Dataset | OMIM.txt

OMIM.txt


chr1	975817	975818	AGRN	GLY	ARG	1709	103320.0001	MYASTHENIA, LIMB-GIRDLE, FAMILIAL
chr1	1948934	1948935	GABRD	GLU	ALA	177	137163.0001	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO
chr1	1949558	1949559	GABRD	ARG	HIS	220	137163.0002	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10, INCLUDED, EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7, INCLUDED
chr1	2327824	2327825	PEX10	HIS	GLN	290	602859.0002	NEONATAL ADRENOLEUKODYSTROPHY
chr1	2329977	2329978	PEX10	ARG	TER	125	602859.0003	NEONATAL ADRENOLEUKODYSTROPHY
chr1	5857592	5857593	NPHP4	PHE	SER	991	607215.0004	NEPHRONOPHTHISIS 4
chr1	5870040	5870041	NPHP4	GLN	TER	793	607215.0002	NEPHRONOPHTHISIS 4
chr1	5870049	5870050	NPHP4	GLU	TER	790	607215.0001	NEPHRONOPHTHISIS 4
chr1	5870082	5870083	NPHP4	GLN	TER	779	607215.0006	SENIOR-LOKEN SYNDROME 4
chr1	5887362	5887363	NPHP4	ARG	TER	682	607215.0003	NEPHRONOPHTHISIS 4
chr1	5887434	5887435	NPHP4	ARG	TER	658	607215.0007	SENIOR-LOKEN SYNDROME 4
chr1	6434572	6434575	ESPN	SER	ARG	719	606351.0003	DEAFNESS, WITHOUT VESTIBULAR INVOLVEMENT, AUTOSOMAL DOMINANT
chr1	6434647	6434648	ESPN	ASP	ASN	744	606351.0004	DEAFNESS, WITHOUT VESTIBULAR INVOLVEMENT, AUTOSOMAL DOMINANT
chr1	6434738	6434739	ESPN	ARG	GLN	774	606351.0005	DEAFNESS, WITHOUT VESTIBULAR INVOLVEMENT, AUTOSOMAL DOMINANT
chr1	6452090	6452091	PLEKHG5	PHE	SER	647	611101.0001	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4
chr1	9246496	9246497	H6PD	ARG	GLN	453	138090.0002	CORTISONE REDUCTASE DEFICIENCY
chr1	10241246	10241247	KIF1B	GLN	LEU	98	605995.0001	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1
chr1	10307482	10307483	KIF1B	THR	ILE	827	605995.0003	NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
chr1	10328587	10328588	KIF1B	PRO	SER	1217	605995.0004	NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
chr1	10348120	10348121	KIF1B	SER	ASN	1481	605995.0005	PHEOCHROMOCYTOMA NEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED
chr1	10607048	10607049	PEX14	GLN	TER	185	601791.0001	ZELLWEGER SYNDROME
chr1	11001479	11001480	TARDBP	ASP	GLY	169	605078.0006	AMYOTROPHIC LATERAL SCLEROSIS 10
chr1	11004921	11004922	TARDBP	GLY	ALA	290	605078.0004	AMYOTROPHIC LATERAL SCLEROSIS 10
chr1	11004933	11004934	TARDBP	GLY	ALA	294	605078.0003	AMYOTROPHIC LATERAL SCLEROSIS 10
chr1	11004935	11004936	TARDBP	GLY	SER	295	605078.0010	AMYOTROPHIC LATERAL SCLEROSIS 10
chr1	11004944	11004945	TARDBP	GLY	SER	298	605078.0005	AMYOTROPHIC LATERAL SCLEROSIS 10
chr1	11004995	11004996	TARDBP	ALA	THR	315	605078.0009	AMYOTROPHIC LATERAL SCLEROSIS 10
chr1	11005043	11005044	TARDBP	GLN	LYS	331	605078.0002	AMYOTROPHIC LATERAL SCLEROSIS 10
chr1	11005061	11005062	TARDBP	MET	VAL	337	605078.0001	AMYOTROPHIC LATERAL SCLEROSIS 10
chr1	11005080	11005081	TARDBP	GLN	ARG	343	605078.0008	AMYOTROPHIC LATERAL SCLEROSIS 10
chr1	11005094	11005095	TARDBP	GLY	CYS	348	605078.0007	AMYOTROPHIC LATERAL SCLEROSIS 10
chr1	11256479	11256480	UBIAD1	ASN	SER	102	611632.0001	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
chr1	11256509	11256510	UBIAD1	ASP	GLY	112	611632.0006	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
chr1	11256529	11256530	UBIAD1	ARG	GLY	119	611632.0003	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
chr1	11256685	11256686	UBIAD1	SER	PRO	171	611632.0007	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
chr1	11256698	11256699	UBIAD1	THR	ILE	175	611632.0004	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
chr1	11256703	11256704	UBIAD1	GLY	ARG	177	611632.0002	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
chr1	11268313	11268314	UBIAD1	GLY	ARG	186	611632.0008	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
chr1	11268452	11268453	UBIAD1	ASN	SER	232	611632.0005	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
chr1	11268465	11268466	UBIAD1	ASP	GLU	236	611632.0009	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
chr1	11773859	11773860	MTHFR	MET	ILE	581	607093.0010	NITROUS OXIDE SENSITIVITY IN MTHFR DEFICIENCY
chr1	11777062	11777063	MTHFR	GLU	ALA	429	607093.0004	MTHFR THERMOLABILE POLYMORPHISM SCHIZOPHRENIA, SUSCEPTIBILITY TO, INCLUDED
chr1	11777409	11777410	MTHFR	ARG	CYS	377	607093.0011	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
chr1	11777757	11777758	MTHFR	TRP	GLY	339	607093.0006	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
chr1	11777801	11777802	MTHFR	ASN	SER	324	607093.0005	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
chr1	11777804	11777805	MTHFR	LEU	PRO	323	607093.0012	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
chr1	11778964	11778965	MTHFR	ALA	VAL	222	607093.0003	MTHFR THERMOLABILE POLYMORPHISM
chr1	11941270	11941271	PLOD1	ARG	TER	319	153454.0001	EHLERS-DANLOS SYNDROME, TYPE VIA NEVO SYNDROME, INCLUDED
chr1	11948185	11948186	PLOD1	TYR	TER	511	153454.0007	EHLERS-DANLOS SYNDROME, TYPE VIA
chr1	11953393	11953394	PLOD1	TRP	CYS	612	153454.0009	EHLERS-DANLOS SYNDROME, TYPE VIA
chr1	11955620	11955621	PLOD1	ARG	TER	670	153454.0010	EHLERS-DANLOS SYNDROME, TYPE VIA
chr1	11957299	11957300	PLOD1	GLY	ARG	678	153454.0003	EHLERS-DANLOS SYNDROME, TYPE VIA
chr1	11975227	11975228	MFN2	VAL	PHE	69	608507.0006	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
chr1	11975249	11975250	MFN2	LEU	PRO	76	608507.0003	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
chr1	11975302	11975303	MFN2	ARG	TRP	94	608507.0009	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI, INCLUDED
chr1	11975303	11975304	MFN2	ARG	GLN	94	608507.0001	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
chr1	11975332	11975333	MFN2	ARG	TRP	104	608507.0014	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, INCLUDED
chr1	11979958	11979959	MFN2	HIS	ASP	165	608507.0008	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
chr1	11981430	11981431	MFN2	THR	ILE	206	608507.0012	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI
chr1	11981673	11981674	MFN2	PRO	ALA	251	608507.0005	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
chr1	11984054	11984055	MFN2	GLN	ARG	276	608507.0010	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI
chr1	11984066	11984067	MFN2	ARG	HIS	280	608507.0004	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
chr1	11984657	11984658	MFN2	LYS	ASN	357	608507.0007	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
chr1	11984676	11984677	MFN2	ARG	TRP	364	608507.0011	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI
chr1	11992284	11992285	MFN2	ARG	TRP	707	608507.0013	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
chr1	11994153	11994154	MFN2	TRP	SER	740	608507.0002	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
chr1	15639605	15639608	CTRC	TRP	TER	55	601405.0003	PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
chr1	15644798	15644799	CTRC	ARG	TRP	254	601405.0001	PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
chr1	16226513	16226514	CLCNKA	GLN	TER	260	602024.0002	BARTTER SYNDROME, TYPE 4B
chr1	16246998	16246999	CLCNKB	PRO	LEU	124	602023.0001	BARTTER SYNDROME, TYPE 3
chr1	16247618	16247619	CLCNKB	ALA	THR	204	602023.0002	BARTTER SYNDROME, TYPE 3
chr1	16249674	16249675	CLCNKB	ALA	ASP	349	602023.0004	BARTTER SYNDROME, TYPE 3
chr1	16250625	16250626	CLCNKB	TYR	HIS	432	602023.0005	BARTTER SYNDROME, TYPE 3
chr1	16250805	16250806	CLCNKB	ARG	CYS	438	602023.0003	BARTTER SYNDROME, TYPE 3
chr1	16254587	16254590	CLCNKB	TRP	TER	610	602023.0009	BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA
chr1	16324385	16324386	EPHA2	GLY	TRP	948	176946.0001	CATARACT, POSTERIOR POLAR, 1
chr1	16328521	16328522	EPHA2	THR	ILE	940	176946.0002	CATARACT, POSTERIOR POLAR, 1
chr1	16331308	16331309	EPHA2	ARG	GLN	721	176946.0005	CATARACT, AGE-RELATED CORTICAL, 2
chr1	17195089	17195090	ATP13A2	GLY	ARG	504	610513.0004	KUFOR-RAKEB SYNDROME
chr1	17221729	17221730	SDHB	ARG	HIS	242	185470.0004	PARAGANGLIOMAS 4 PHEOCHROMOCYTOMA, INCLUDED
chr1	17223106	17223107	SDHB	PRO	ARG	197	185470.0002	PARAGANGLIOMAS 4
chr1	17226883	17226884	SDHB	SER	PRO	163	185470.0015	COWDEN-LIKE SYNDROME
chr1	17227709	17227710	SDHB	HIS	PRO	132	185470.0010	PARAGANGLIOMAS 4
chr1	17227802	17227803	SDHB	CYS	TYR	101	185470.0009	PHEOCHROMOCYTOMA
chr1	17227805	17227806	SDHB	SER	PHE	100	185470.0011	PHEOCHROMOCYTOMA
chr1	17232159	17232160	SDHB	ARG	TER	90	185470.0001	PARAGANGLIOMAS 4
chr1	17243906	17243907	SDHB	ARG	GLY	46	185470.0008	PHEOCHROMOCYTOMA
chr1	17243963	17243964	SDHB	ARG	TER	27	185470.0006	PARAGANGLIOMAS 4 PHEOCHROMOCYTOMA, INCLUDED
chr1	17253093	17253094	SDHB	ALA	GLY	3	185470.0014	COWDEN-LIKE SYNDROME
chr1	19076578	19076579	ALDH4A1	SER	LEU	352	606811.0002	HYPERPROLINEMIA, TYPE II
chr1	20837183	20837184	PINK1	ALA	ASP	217	608309.0011	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
chr1	20839031	20839032	PINK1	ARG	TER	246	608309.0003	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
chr1	20843605	20843606	PINK1	HIS	GLN	271	608309.0004	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
chr1	20843628	20843629	PINK1	ARG	HIS	279	608309.0008	PARKINSON DISEASE 6, EARLY-ONSET
chr1	20843718	20843719	PINK1	GLY	ASP	309	608309.0001	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
chr1	20843730	20843731	PINK1	THR	MET	313	608309.0010	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
chr1	20844719	20844720	PINK1	LEU	PRO	347	608309.0005	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
chr1	20847656	20847657	PINK1	PRO	LEU	399	608309.0014	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1
chr1	20848113	20848114	PINK1	TYR	HIS	431	608309.0013	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
chr1	20848131	20848134	PINK1	TRP	TER	437	608309.0002	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
chr1	20848188	20848189	PINK1	GLN	TER	456	608309.0012	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
chr1	21419087	21419088	ECE1	ARG	CYS	742	600423.0001	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION
chr1	21763173	21763174	ALPL	ALA	THR	176	171760.0022	HYPOPHOSPHATASIA, INFANTILE HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED
chr1	21769405	21769406	ALPL	ARG	CYS	272	171760.0023	HYPOPHOSPHATASIA, INFANTILE HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED
chr1	21774947	21774948	ALPL	ASP	VAL	378	171760.0009	HYPOPHOSPHATASIA, INFANTILE HYPOPHOSPHATASIA, ADULT, INCLUDED
chr1	22063953	22063954	HSPG2	CYS	TYR	1532	142461.0002	SCHWARTZ-JAMPEL SYNDROME, TYPE 1
chr1	22320628	22320629	WNT4	ALA	VAL	114	603490.0002	SERKAL SYNDROME
chr1	22320628	22320629	WNT4	ARG	CYS	83	603490.0003	MULLERIAN APLASIA AND HYPERANDROGENISM
chr1	22341967	22341968	WNT4	LEU	PRO	12	603490.0004	MULLERIAN APLASIA AND HYPERANDROGENISM
chr1	23062139	23062140	EPHB2	ALA	SER	279	600997.0002	PROSTATE CANCER, PROGRESSION AND METASTASIS OF
chr1	23105932	23105933	EPHB2	ASP	ASN	679	600997.0003	PROSTATE CANCER, PROGRESSION AND METASTASIS OF
chr1	23107059	23107060	EPHB2	GLN	TER	723	600997.0001	PROSTATE CANCER, PROGRESSION AND METASTASIS OF
chr1	23892948	23892949	RPL11	ARG	TER	75	604175.0001	DIAMOND-BLACKFAN ANEMIA 7
chr1	23995259	23995260	GALE	GLY	GLU	319	606953.0007	GALACTOSE EPIMERASE DEFICIENCY
chr1	23995278	23995279	GALE	LEU	MET	313	606953.0006	GALACTOSE EPIMERASE DEFICIENCY
chr1	23995798	23995799	GALE	LYS	ARG	257	606953.0005	GALACTOSE EPIMERASE DEFICIENCY
chr1	23996204	23996205	GALE	LEU	PRO	183	606953.0001	GALACTOSE EPIMERASE DEFICIENCY
chr1	23997236	23997237	GALE	ASP	GLY	103	606953.0004	GALACTOSE EPIMERASE DEFICIENCY
chr1	23997264	23997265	GALE	VAL	MET	94	606953.0008	GALACTOSE EPIMERASE DEFICIENCY, SEVERE
chr1	23997275	23997276	GALE	GLY	GLU	90	606953.0003	GALACTOSE EPIMERASE DEFICIENCY
chr1	23997983	23997984	GALE	ASN	SER	34	606953.0002	GALACTOSE EPIMERASE DEFICIENCY
chr1	24003517	24003518	HMGCL	GLU	LYS	279	246450.0005	HMG-CoA LYASE DEFICIENCY
chr1	24016596	24016597	HMGCL	VAL	LEU	70	246450.0002	HMG-CoA LYASE DEFICIENCY
chr1	24019608	24019609	HMGCL	ARG	GLN	41	246450.0004	HMG-CoA LYASE DEFICIENCY
chr1	25483830	25483831	RHD	LEU	PRO	110	111680.0002	RHD CATEGORY D-VII
chr1	25502406	25502407	RHD	VAL	GLY	270	111680.0003	RHD, WEAK D, TYPE I
chr1	25619816	25619817	RHCE	CYS	TRP	16	111700.0002	RH C/c POLYMORPHISM
chr1	25999308	25999309	SEPN1	MET	VAL	1	606210.0003	RIGID SPINE MUSCULAR DYSTROPHY 1
chr1	26008173	26008174	SEPN1	GLY	GLU	273	606210.0001	RIGID SPINE MUSCULAR DYSTROPHY 1
chr1	26008830	26008831	SEPN1	GLY	SER	315	606210.0008	RIGID SPINE MUSCULAR DYSTROPHY 1 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED
chr1	26011840	26011841	SEPN1	TRP	SER	453	606210.0005	RIGID SPINE MUSCULAR DYSTROPHY 1
chr1	26012967	26012968	SEPN1	ARG	GLN	466	606210.0004	RIGID SPINE MUSCULAR DYSTROPHY 1
chr1	27111113	27111114	NR0B2	ALA	SER	195	604630.0002	OBESITY, MILD, EARLY-ONSET
chr1	27112918	27112919	NR0B2	ARG	TER	34	604630.0001	OBESITY, MILD, EARLY-ONSET
chr1	29186537	29186538	EPB41	MET	ARG	1	130500.0005	ELLIPTOCYTOSIS 1 PROTEIN 4.1 MADRID
chr1	29186537	29186538	EPB41	MET	THR	1	130500.0006	ELLIPTOCYTOSIS 1 PROTEIN 4.1 LILLE
chr1	29192588	29192589	EPB41	MET	ARG	1	130500.0005	ELLIPTOCYTOSIS 1 PROTEIN 4.1 MADRID
chr1	29192588	29192589	EPB41	MET	THR	1	130500.0006	ELLIPTOCYTOSIS 1 PROTEIN 4.1 LILLE
chr1	33035955	33035956	YARS	GLU	LYS	196	603623.0002	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
chr1	33049181	33049182	YARS	GLY	ARG	41	603623.0001	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
chr1	33251391	33251392	AK2	LYS	TER	233	103020.0012	RETICULAR DYSGENESIS
chr1	33251532	33251533	AK2	ARG	CYS	186	103020.0009	RETICULAR DYSGENESIS
chr1	33251540	33251541	AK2	LEU	TER	183	103020.0008	RETICULAR DYSGENESIS
chr1	33252713	33252714	AK2	ASP	GLY	165	103020.0007	RETICULAR DYSGENESIS
chr1	33259803	33259804	AK2	ARG	TRP	103	103020.0011	RETICULAR DYSGENESIS
chr1	33274991	33274992	AK2	GLU	TER	9	103020.0013	RETICULAR DYSGENESIS
chr1	33275015	33275016	AK2	MET	VAL	1	103020.0003	RETICULAR DYSGENESIS
chr1	34999476	34999477	GJB4	GLY	ASP	12	605425.0004	ERYTHROKERATODERMIA VARIABILIS
chr1	34999506	34999507	GJB4	ARG	HIS	22	605425.0005	ERYTHROKERATODERMIA VARIABILIS
chr1	34999694	34999695	GJB4	THR	PRO	85	605425.0003	ERYTHROKERATODERMIA VARIABILIS
chr1	34999850	34999853	GJB4	PHE	LEU	137	605425.0001	ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS ERYTHROKERATODERMIA VARIABILIS, INCLUDED
chr1	34999850	34999853	GJB4	PHE	LEU	137	605425.0002	ERYTHROKERATODERMIA VARIABILIS
chr1	35000007	35000008	GJB4	PHE	TYR	189	605425.0006	ERYTHROKERATODERMIA VARIABILIS
chr1	35022983	35022984	GJB3	GLY	ARG	12	603324.0001	ERYTHROKERATODERMIA VARIABILIS
chr1	35022984	35022985	GJB3	GLY	ASP	12	603324.0002	ERYTHROKERATODERMIA VARIABILIS
chr1	35023050	35023051	GJB3	LEU	PRO	34	603324.0010	ERYTHROKERATODERMIA VARIABILIS, AUTOSOMAL RECESSIVE
chr1	35023074	35023075	GJB3	ARG	PRO	42	603324.0008	ERYTHROKERATODERMIA VARIABILIS
chr1	35023205	35023208	GJB3	CYS	SER	86	603324.0003	ERYTHROKERATODERMIA VARIABILIS
chr1	35023370	35023371	GJB3	ILE	VAL	141	603324.0007	DEAFNESS, AUTOSOMAL RECESSIVE
chr1	35023446	35023447	GJB3	ASN	SER	166	603324.0011	DEAFNESS, DIGENIC, GJB2/GJB3
chr1	35023487	35023488	GJB3	ARG	TER	180	603324.0005	DEAFNESS, AUTOSOMAL DOMINANT 2B
chr1	35023496	35023497	GJB3	GLU	LYS	183	603324.0004	DEAFNESS, AUTOSOMAL DOMINANT 2B
chr1	35023529	35023530	GJB3	ALA	THR	194	603324.0012	DEAFNESS, DIGENIC, GJB2/GJB3
chr1	36336505	36336506	COL8A2	GLN	LYS	455	120252.0001	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 CORNEAL DYSTROPHY, POLYMORPHOUS POSTERIOR, 2, INCLUDED
chr1	36336519	36336520	COL8A2	LEU	TRP	450	120252.0003	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 CORNEAL DYSTROPHY, POLYMORPHOUS POSTERIOR, 2, INCLUDED
chr1	36336519	36336520	COL9A2	GLN	TRP	326	120260.0004	INTERVERTEBRAL DISC DISEASE, SUSCEPTIBILITY TO
chr1	40316888	40316889	PPT1	LEU	GLN	219	600722.0004	CEROID LIPOFUSCINOSIS, NEURONAL, 1
chr1	40327753	40327754	PPT1	ARG	TER	151	600722.0006	CEROID LIPOFUSCINOSIS, NEURONAL, 1
chr1	40329656	40329657	PPT1	ARG	TRP	122	600722.0001	CEROID LIPOFUSCINOSIS, NEURONAL, 1
chr1	40330343	40330344	PPT1	GLY	ARG	108	600722.0009	CEROID LIPOFUSCINOSIS, NEURONAL, 1
chr1	40330429	40330430	PPT1	ASP	GLY	79	600722.0003	CEROID LIPOFUSCINOSIS, NEURONAL, 1
chr1	40330667	40330668	PPT1	THR	PRO	75	600722.0002	CEROID LIPOFUSCINOSIS, NEURONAL, 1
chr1	40330756	40330757	PPT1	CYS	TYR	45	600722.0010	CEROID LIPOFUSCINOSIS, NEURONAL, 1
chr1	40335468	40335469	PPT1	LEU	TER	10	600722.0005	CEROID LIPOFUSCINOSIS, NEURONAL, 1
chr1	40496650	40496651	ZMPSTE24	GLN	TER	41	606480.0004	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
chr1	40510239	40510240	ZMPSTE24	GLU	TER	239	606480.0006	RESTRICTIVE DERMOPATHY, LETHAL
chr1	40510267	40510268	ZMPSTE24	PRO	LEU	248	606480.0005	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
chr1	40524246	40524247	ZMPSTE24	TRP	ARG	340	606480.0002	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
chr1	41057717	41057718	KCNQ4	LEU	HIS	274	603537.0007	DEAFNESS, AUTOSOMAL DOMINANT 2A
chr1	41057723	41057724	KCNQ4	TRP	SER	276	603537.0002	DEAFNESS, AUTOSOMAL DOMINANT 2A
chr1	41058140	41058141	KCNQ4	LEU	SER	281	603537.0006	DEAFNESS, AUTOSOMAL DOMINANT 2A
chr1	41058151	41058152	KCNQ4	GLY	SER	285	603537.0001	DEAFNESS, AUTOSOMAL DOMINANT 2A
chr1	41058151	41058152	KCNQ4	GLY	CYS	285	603537.0004	DEAFNESS, AUTOSOMAL DOMINANT 2A
chr1	41058184	41058185	KCNQ4	GLY	SER	296	603537.0009	DEAFNESS, AUTOSOMAL DOMINANT 2A
chr1	41058438	41058439	KCNQ4	GLY	SER	321	603537.0003	DEAFNESS, AUTOSOMAL DOMINANT 2A
chr1	42976797	42976798	CLDN19	LEU	PRO	90	610036.0003	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
chr1	42978152	42978153	CLDN19	GLN	GLU	57	610036.0002	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
chr1	42978262	42978263	CLDN19	GLY	ASP	20	610036.0001	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
chr1	42988507	42988508	LEPRE1	TYR	TER	552	610339.0004	OSTEOGENESIS IMPERFECTA, TYPE VIII
chr1	42993873	42993874	LEPRE1	ARG	TER	368	610339.0006	OSTEOGENESIS IMPERFECTA, TYPE VIII
chr1	43069078	43069079	ERMAP	GLU	LYS	47	609017.0004	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN
chr1	43069108	43069109	ERMAP	GLY	ARG	57	609017.0002	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2
chr1	43069117	43069118	ERMAP	PRO	ALA	60	609017.0003	RADIN BLOOD GROUP ANTIGEN
chr1	43165411	43165412	SLC2A1	LYS	TER	456	138140.0002	GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
chr1	43165430	43165431	SLC2A1	TYR	TER	449	138140.0003	GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
chr1	43165430	43165431	SLC2A1	LYS	VAL	256	138140.0004	GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
chr1	43167499	43167500	SLC2A1	GLY	SER	314	138140.0009	DYSTONIA 18
chr1	43167894	43167895	SLC2A1	ALA	THR	275	138140.0010	DYSTONIA 18
chr1	43169022	43169023	SLC2A1	ARG	LEU	126	138140.0005	GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
chr1	43169022	43169023	SLC2A1	ARG	HIS	126	138140.0007	GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
chr1	43169306	43169307	SLC2A1	GLY	ASP	91	138140.0006	GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
chr1	43576393	43576394	MPL	LYS	ASN	39	159530.0009	THROMBOCYTHEMIA, SUSCEPTIBILITY TO
chr1	43576891	43576892	MPL	ARG	PRO	102	159530.0005	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
chr1	43577692	43577693	MPL	GLN	TER	186	159530.0001	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
chr1	43578299	43578300	MPL	ARG	CYS	257	159530.0003	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
chr1	43578353	43578354	MPL	PRO	THR	275	159530.0008	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
chr1	43587522	43587525	MPL	TRP	TER	491	159530.0006	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
chr1	43587565	43587566	MPL	SER	ASN	505	159530.0010	THROMBOCYTHEMIA, ESSENTIAL, AUTOSOMAL DOMINANT
chr1	43587595	43587596	MPL	TRP	LEU	515	159530.0011	MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC THROMBOCYTHEMIA, ESSENTIAL, SOMATIC, INCLUDED
chr1	43587595	43587596	MPL	TRP	LYS	515	159530.0012	MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC
chr1	43591025	43591026	MPL	PRO	LEU	635	159530.0004	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
chr1	45065875	45065876	PTCH2	ARG	GLN	719	603673.0003	BASAL CELL NEVUS SYNDROME
chr1	45113892	45113893	EIF2B3	ILE	THR	346	606273.0004	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr1	45119980	45119981	EIF2B3	ARG	GLN	225	606273.0001	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr1	45216607	45216608	EIF2B3	ALA	VAL	87	606273.0003	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr1	45251445	45251446	UROD	PRO	LEU	62	176100.0006	PORPHYRIA, HEPATOERYTHROPOIETIC
chr1	45252186	45252187	UROD	MET	ARG	165	176100.0009	PORPHYRIA CUTANEA TARDA
chr1	45252191	45252192	UROD	GLU	LYS	167	176100.0004	PORPHYRIA, HEPATOERYTHROPOIETIC
chr1	45252275	45252276	UROD	LEU	PHE	195	176100.0010	PORPHYRIA CUTANEA TARDA
chr1	45253061	45253062	UROD	GLY	VAL	281	176100.0001	PORPHYRIA CUTANEA TARDA
chr1	45253061	45253062	UROD	GLY	GLU	281	176100.0002	PORPHYRIA, HEPATOERYTHROPOIETIC
chr1	45253093	45253094	UROD	ARG	GLY	292	176100.0005	PORPHYRIA, HEPATOERYTHROPOIETIC
chr1	45253234	45253235	UROD	ASN	LYS	304	176100.0011	PORPHYRIA CUTANEA TARDA
chr1	45253254	45253255	UROD	TYR	CYS	311	176100.0007	PORPHYRIA, HEPATOERYTHROPOIETIC
chr1	45253264	45253265	UROD	GLU	GLU	314	176100.0008	PORPHYRIA CUTANEA TARDA
chr1	45253647	45253648	UROD	ARG	HIS	332	176100.0012	PORPHYRIA CUTANEA TARDA
chr1	45569478	45569479	MUTYH	GLU	TER	466	604933.0005	COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE
chr1	45569760	45569761	MUTYH	GLN	ARG	400	604933.0007	GASTRIC CANCER, SOMATIC
chr1	45569788	45569789	MUTYH	PRO	SER	391	604933.0006	GASTRIC CANCER, SOMATIC
chr1	45569918	45569919	MUTYH	GLY	ASP	382	604933.0002	COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE ENDOMETRIAL CANCER, INCLUDED
chr1	45571061	45571062	MUTYH	TYR	CYS	165	604933.0001	COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE ENDOMETRIAL CANCER, INCLUDED
chr1	45571707	45571708	MUTYH	TYR	TER	90	604933.0004	COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE
chr1	45746524	45746525	MMACHC	ARG	TER	111	609831.0004	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
chr1	45746540	45746541	MMACHC	LEU	PRO	116	609831.0002	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
chr1	45746587	45746588	MMACHC	ARG	TER	132	609831.0003	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
chr1	45747106	45747107	MMACHC	ARG	GLN	161	609831.0005	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
chr1	46428731	46428732	POMGNT1	SER	ASN	550	606822.0003	MUSCLE-EYE-BRAIN DISEASE
chr1	46430417	46430418	POMGNT1	PRO	ARG	493	606822.0005	MUSCLE-EYE-BRAIN DISEASE
chr1	46430655	46430656	POMGNT1	ARG	CYS	442	606822.0007	MUSCLE-EYE-BRAIN DISEASE
chr1	46432131	46432132	POMGNT1	ARG	GLN	311	606822.0008	MUSCLE-EYE-BRAIN DISEASE
chr1	46435276	46435277	POMGNT1	ARG	TER	63	606822.0009	MUSCLE-EYE-BRAIN DISEASE
chr1	46488355	46488356	RAD54L	PRO	HIS	63	603615.0001	ADENOCARCINOMA, COLONIC, SOMATIC
chr1	46505798	46505799	RAD54L	GLY	ARG	325	603615.0003	BREAST CANCER, INVASIVE DUCTAL
chr1	46511016	46511017	RAD54L	VAL	GLU	444	603615.0002	LYMPHOMA, NON-HODGKIN, SOMATIC
chr1	46643347	46643348	FAAH	PRO	THR	129	602935.0001	DRUG ADDICTION, SUSCEPTIBILITY TO
chr1	47489543	47489544	STIL	GLN	TER	1239	181590.0001	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7
chr1	47655293	47655294	FOXE3	CYS	TER	240	601094.0002	APHAKIA, CONGENITAL PRIMARY
chr1	53435351	53435352	CPT2	PRO	HIS	50	600650.0003	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE, INCLUDED
chr1	53440686	53440687	CPT2	SER	LEU	113	600650.0002	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
chr1	53448292	53448293	CPT2	TYR	CYS	120	600650.0017	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
chr1	53448453	53448454	CPT2	GLU	LYS	174	600650.0006	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
chr1	53448571	53448572	CPT2	ASP	GLY	213	600650.0016	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
chr1	53448613	53448614	CPT2	PRO	LEU	227	600650.0013	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
chr1	53449081	53449082	CPT2	PHE	TYR	383	600650.0007	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET, INCLUDED
chr1	53449275	53449278	CPT2	PHE	LEU	448	600650.0009	 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE, INCLUDED
chr1	53449275	53449278	CPT2	PHE	LEU	448	600650.0009	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL, INCLUDED
chr1	53449293	53449294	CPT2	GLU	TER	454	600650.0015	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
chr1	53449440	53449441	CPT2	ARG	CYS	503	600650.0008	MYOPATHY, VARIABLE
chr1	53451534	53451535	CPT2	ASP	ASN	553	600650.0004	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
chr1	53451760	53451761	CPT2	TYR	SER	628	600650.0005	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET, INCLUDED
chr1	53451768	53451769	CPT2	ARG	CYS	631	600650.0001	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET, INCLUDED
chr1	53485314	53485315	LRP8	ARG	GLN	952	602600.0001	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1
chr1	55090632	55090633	DHCR24	TYR	SER	471	606418.0001	DESMOSTEROLOSIS
chr1	55103665	55103666	DHCR24	LYS	ASN	306	606418.0002	DESMOSTEROLOSIS
chr1	55103702	55103703	DHCR24	ASN	THR	294	606418.0002	DESMOSTEROLOSIS
chr1	55113394	55113395	DHCR24	GLU	LYS	191	606418.0003	DESMOSTEROLOSIS
chr1	55237447	55237448	BSND	MET	LEU	1	606412.0001	BARTTER SYNDROME, TYPE 4A
chr1	55237449	55237450	BSND	MET	ILE	1	606412.0005	BARTTER SYNDROME, TYPE 4A
chr1	55237456	55237457	BSND	GLU	TER	4	606412.0010	SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION
chr1	55237468	55237469	BSND	ARG	TRP	8	606412.0002	BARTTER SYNDROME, TYPE 4A
chr1	55237469	55237470	BSND	ARG	LEU	8	606412.0007	BARTTER SYNDROME, TYPE 4A
chr1	55237474	55237475	BSND	GLY	SER	10	606412.0006	BARTTER SYNDROME, TYPE 4A
chr1	55237481	55237482	BSND	ILE	THR	12	606412.0009	SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION
chr1	55237585	55237586	BSND	GLY	ARG	47	606412.0008	BARTTER SYNDROME, TYPE 4A
chr1	55278234	55278235	PCSK9	ARG	LEU	46	607786.0006	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
chr1	55282274	55282277	PCSK9	SER	ARG	127	607786.0001	HYPERCHOLESTEROLEMIA, FAMILIAL, 3
chr1	55284809	55284810	PCSK9	TYR	TER	142	607786.0004	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
chr1	55284809	55284810	PCSK9	TYR	TER	142	607786.0007	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
chr1	55290660	55290663	PCSK9	PHE	LEU	216	607786.0002	HYPERCHOLESTEROLEMIA, FAMILIAL, 3
chr1	55295714	55295715	PCSK9	ASP	TYR	374	607786.0003	HYPERCHOLESTEROLEMIA, FAMILIAL, 3
chr1	55301802	55301803	PCSK9	CYS	TER	679	607786.0005	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
chr1	58814797	58814798	TACSTD2	GLN	TER	207	137290.0002	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY
chr1	58814859	58814860	TACSTD2	LEU	PRO	186	137290.0008	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY
chr1	58814907	58814908	TACSTD2	SER	TER	170	137290.0003	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY
chr1	58815061	58815064	TACSTD2	CYS	SER	119	137290.0006	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY
chr1	58815064	58815065	TACSTD2	GLN	TER	118	137290.0001	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY
chr1	58815414	58815415	TACSTD2	MET	ARG	1	137290.0005	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY
chr1	63657638	63657639	ALG6	ALA	VAL	333	604566.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic
chr1	63675186	63675187	ALG6	SER	PRO	478	604566.0002	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic
chr1	63867779	63867780	PGM1	THR	ALA	115	171900.0001	GLYCOGEN STORAGE DISEASE XIV
chr1	65809028	65809029	LEPR	LYS	ARG	109	601007.0004	LEPTIN RECEPTOR POLYMORPHISM
chr1	65831100	65831101	LEPR	GLN	ARG	223	601007.0003	LEPTIN RECEPTOR POLYMORPHISM
chr1	65848539	65848540	LEPR	LYS	ASN	656	601007.0005	LEPTIN RECEPTOR POLYMORPHISM
chr1	67247383	67247386	SLC35D1	TRP	TER	311	610804.0002	SCHNECKENBECKEN DYSPLASIA
chr1	67478545	67478546	IL23R	ARG	GLN	381	607562.0001	INFLAMMATORY BOWEL DISEASE 17, PROTECTION AGAINST PSORIASIS, PROTECTION AGAINST, INCLUDED
chr1	68668105	68668106	RPE65	ARG	TRP	515	180069.0008	RETINITIS PIGMENTOSA 20 LEBER CONGENITAL AMAUROSIS 2, INCLUDED
chr1	68669430	68669431	RPE65	VAL	GLY	452	180069.0007	RETINITIS PIGMENTOSA 20
chr1	68676498	68676499	RPE65	PRO	THR	363	180069.0003	RETINITIS PIGMENTOSA 20
chr1	68676563	68676564	RPE65	LEU	SER	341	180069.0004	RETINITIS PIGMENTOSA 20
chr1	68677856	68677857	RPE65	ARG	TER	234	180069.0002	LEBER CONGENITAL AMAUROSIS 2
chr1	68682902	68682903	RPE65	ALA	THR	132	180069.0005	RETINITIS PIGMENTOSA 20
chr1	68683128	68683129	RPE65	ARG	TRP	91	180069.0006	RETINITIS PIGMENTOSA 20
chr1	70654257	70654258	CTH	THR	ILE	67	607657.0003	CYSTATHIONINURIA
chr1	70668658	70668659	CTH	GLN	GLU	240	607657.0004	CYSTATHIONINURIA
chr1	70677387	70677388	CTH	SER	ILE	403	607657.0005	HOMOCYSTEINE, TOTAL PLASMA, ELEVATED
chr1	75973122	75973123	ACADM	MET	ILE	149	607008.0006	MCAD DEFICIENCY
chr1	75978279	75978280	ACADM	GLY	ARG	170	607008.0009	MCAD DEFICIENCY
chr1	75987712	75987713	ACADM	CYS	ARG	244	607008.0005	MCAD DEFICIENCY
chr1	75987781	75987782	ACADM	GLY	ARG	267	607008.0003	MCAD DEFICIENCY
chr1	75999572	75999573	ACADM	ILE	THR	375	607008.0004	MCAD DEFICIENCY
chr1	78180904	78180905	NEXN	PRO	THR	611	613121.0003	CARDIOMYOPATHY, DILATED, 1CC
chr1	78181028	78181029	NEXN	TYR	CYS	652	613121.0002	CARDIOMYOPATHY, DILATED, 1CC
chr1	85509062	85509063	BCL10	ARG	GLY	58	603517.0016	GERM CELL TUMOR
chr1	85509062	85509063	BCL10	ARG	TER	58	603517.0017	GERM CELL TUMOR
chr1	92714234	92714235	GFI1	LYS	ARG	403	600871.0002	NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS
chr1	92714297	92714298	GFI1	ASN	SER	382	600871.0001	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2
chr1	93071596	93071597	RPL5	ARG	TER	23	603634.0001	DIAMOND-BLACKFAN ANEMIA 6
chr1	93074427	93074428	RPL5	GLY	SER	140	603634.0002	DIAMOND-BLACKFAN ANEMIA 6
chr1	94236204	94236205	ABCA4	ASP	ASN	2177	601691.0006	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
chr1	94240135	94240136	ABCA4	VAL	LEU	2050	601691.0005	STARGARDT DISEASE 1
chr1	94243643	94243644	ABCA4	ARG	TER	2030	601691.0029	RETINAL DYSTROPHY, EARLY-ONSET SEVERE
chr1	94243652	94243653	ABCA4	LEU	PHE	2027	601691.0004	STARGARDT DISEASE 1 CONE-ROD DYSTROPHY 3, INCLUDED
chr1	94245870	94245871	ABCA4	LEU	ARG	1971	601691.0015	FUNDUS FLAVIMACULATUS
chr1	94245874	94245875	ABCA4	LEU	PHE	1970	601691.0014	FUNDUS FLAVIMACULATUS
chr1	94246394	94246395	ABCA4	GLY	GLU	1961	601691.0007	 CONE-ROD DYSTROPHY 3, INCLUDED
chr1	94246394	94246395	ABCA4	GLY	GLU	1961	601691.0007	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO STARGARDT DISEASE 1, INCLUDED
chr1	94246910	94246911	ABCA4	LEU	PRO	1940	601691.0033	 CONE-ROD DYSTROPHY 3, INCLUDED
chr1	94246910	94246911	ABCA4	LEU	PRO	1940	601691.0033	FUNDUS FLAVIMACULATUS STARGARDT DISEASE 1, INCLUDED
chr1	94252808	94252809	ABCA4	PRO	ALA	1780	601691.0034	STARGARDT DISEASE 1
chr1	94253909	94253910	ABCA4	ALA	ASP	1762	601691.0031	CONE-ROD DYSTROPHY 3 STARGARDT DISEASE 1, INCLUDED
chr1	94269253	94269254	ABCA4	PRO	LEU	1380	601691.0026	STARGARDT DISEASE
chr1	94278191	94278192	ABCA4	LEU	ARG	1201	601691.0025	CONE-ROD DYSTROPHY 3
chr1	94281556	94281557	ABCA4	ALA	VAL	1038	601691.0016	 CONE-ROD DYSTROPHY 3, INCLUDED
chr1	94281556	94281557	ABCA4	ALA	VAL	1038	601691.0016	STARGARDT DISEASE 1 MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO, INCLUDED
chr1	94281556	94281557	ABCA4	ALA	VAL	1038	601691.0023	STARGARDT DISEASE 1 CONE-ROD DYSTROPHY 3, INCLUDED
chr1	94281563	94281564	ABCA4	GLU	LYS	1036	601691.0012	STARGARDT DISEASE 1
chr1	94281586	94281587	ABCA4	ALA	VAL	1028	601691.0003	STARGARDT DISEASE 1
chr1	94285152	94285153	ABCA4	ARG	GLN	943	601691.0035	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO STARGARDT DISEASE 1
chr1	94285189	94285190	ABCA4	VAL	MET	931	601691.0002	STARGARDT DISEASE 1
chr1	94293253	94293254	ABCA4	GLY	ALA	863	601691.0001	STARGARDT DISEASE 1 CONE-ROD DYSTROPHY 3, INCLUDED
chr1	94293278	94293281	ABCA4	TRP	TER	855	601691.0011	STARGARDT DISEASE 1
chr1	94301300	94301301	ABCA4	ARG	GLN	572	601691.0022	STARGARDT DISEASE 1
chr1	94301393	94301394	ABCA4	LEU	PRO	541	601691.0023	STARGARDT DISEASE 1 CONE-ROD DYSTROPHY 3, INCLUDED
chr1	94318702	94318703	ABCA4	TYR	ASP	340	601691.0018	STARGARDT DISEASE 1
chr1	94337071	94337072	ABCA4	ARG	CYS	212	601691.0020	STARGARDT DISEASE 1
chr1	94359137	94359138	ABCA4	ARG	TRP	18	601691.0021	STARGARDT DISEASE 1
chr1	94656671	94656672	ABCD3	GLY	ASP	17	170995.0002	ZELLWEGER SYNDROME 2
chr1	97317276	97317277	DPYD	ASP	VAL	974	612779.0002	5-@FLUOROURACIL TOXICITY
chr1	97336741	97336742	DPYD	ARG	HIS	886	612779.0006	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
chr1	100089201	100089202	AGL	GLN	TER	6	610860.0002	GLYCOGEN STORAGE DISEASE, TYPE IIIb
chr1	100113537	100113538	AGL	ARG	TER	408	610860.0013	GLYCOGEN STORAGE DISEASE, TYPE IIIa
chr1	100119471	100119474	AGL	TRP	TER	680	610860.0003	GLYCOGEN STORAGE DISEASE, TYPE IIIb
chr1	100154635	100154636	AGL	GLY	ARG	1448	610860.0009	GLYCOGEN STORAGE DISEASE, TYPE IIIa
chr1	103200353	103200354	COL11A1	GLY	VAL	988	120280.0003	MARSHALL/STICKLER SYNDROME
chr1	103200857	103200858	COL11A1	GLY	VAL	988	120280.0003	MARSHALL/STICKLER SYNDROME
chr1	103200893	103200894	COL11A1	GLY	VAL	988	120280.0003	MARSHALL/STICKLER SYNDROME
chr1	109954252	109954253	GNAT2	GLN	TER	79	139340.0001	ACHROMATOPSIA 4
chr1	110405694	110405695	ALX3	ASN	SER	203	606014.0002	FRONTORHINY
chr1	110408739	110408740	ALX3	ARG	TRP	196	606014.0007	FRONTORHINY
chr1	110408778	110408779	ALX3	ARG	TRP	183	606014.0004	FRONTORHINY
chr1	110408782	110408783	ALX3	TYR	TER	181	606014.0005	FRONTORHINY
chr1	110408823	110408824	ALX3	LEU	VAL	168	606014.0003	FRONTORHINY
chr1	113258124	113258125	SLC16A1	GLY	ARG	472	600682.0002	ERYTHROCYTE LACTATE TRANSPORTER DEFECT
chr1	113261940	113261941	SLC16A1	LYS	GLU	204	600682.0001	ERYTHROCYTE LACTATE TRANSPORTER DEFECT
chr1	115058051	115058052	NRAS	GLN	ARG	61	164790.0002	THYROID CARCINOMA, FOLLICULAR, SOMATIC
chr1	115058054	115058055	NRAS	GLY	GLU	60	164790.0005	NOONAN SYNDROME 6
chr1	115058084	115058085	NRAS	THR	ILE	50	164790.0004	NOONAN SYNDROME 6
chr1	115060266	115060267	NRAS	GLY	ASP	13	164790.0003	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
chr1	115060267	115060268	NRAS	GLY	ARG	13	164790.0001	RECTAL CANCER, SOMATIC
chr1	116008314	116008315	VANGL1	VAL	ILE	239	610132.0001	CAUDAL REGRESSION SYNDROME
chr1	116026515	116026516	VANGL1	ARG	GLN	274	610132.0002	NEURAL TUBE DEFECTS
chr1	116028123	116028124	VANGL1	MET	THR	328	610132.0003	NEURAL TUBE DEFECTS
chr1	116049355	116049356	CASQ2	ASP	HIS	307	114251.0001	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CPVT2
chr1	116082399	116082400	CASQ2	LEU	HIS	167	114251.0003	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CPVT2
chr1	119759593	119759594	HSD3B2	ALA	GLU	10	201810.0005	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
chr1	119766070	119766071	HSD3B2	GLU	LYS	142	201810.0007	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
chr1	119766157	119766160	HSD3B2	TRP	TER	171	201810.0001	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF ADRENAL HYPERPLASIA II
chr1	119766157	119766160	HSD3B2	VAL	ASN	248	201810.0003	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
chr1	119766310	119766311	HSD3B2	PRO	THR	222	201810.0008	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
chr1	119766391	119766392	HSD3B2	ARG	TER	249	201810.0004	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
chr1	119766422	119766423	HSD3B2	THR	MET	259	201810.0009	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
chr1	119766668	119766669	HSD3B2	PRO	LEU	341	201810.0011	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
chr1	119766765	119766766	HSD3B2	TER	CYS	373	201810.0006	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
chr1	120087015	120087016	PHGDH	VAL	MET	425	606879.0002	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
chr1	120088051	120088052	PHGDH	VAL	MET	490	606879.0001	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
chr1	120094975	120094976	HMGCS2	ARG	HIS	500	600234.0004	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
chr1	120097449	120097450	HMGCS2	ARG	TER	424	600234.0002	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
chr1	120104060	120104061	HMGCS2	GLY	ARG	212	600234.0003	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
chr1	120108356	120108359	HMGCS2	PHE	LEU	174	600234.0001	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
chr1	120108376	120108377	HMGCS2	TYR	CYS	167	600234.0006	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
chr1	120108716	120108717	HMGCS2	VAL	MET	54	600234.0005	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
chr1	120311700	120311701	NOTCH2	CYS	TYR	444	600275.0002	ALAGILLE SYNDROME 2
chr1	145697684	145697685	GJA5	ALA	SER	96	121013.0001	ATRIAL FIBRILLATION
chr1	145697708	145697709	GJA5	PRO	SER	88	121013.0002	ATRIAL FIBRILLATION, SOMATIC
chr1	145846773	145846774	GJA8	ARG	THR	23	600897.0004	CATARACT, NUCLEAR PROGRESSIVE
chr1	145846836	145846837	GJA8	VAL	GLU	44	600897.0005	CATARACT-MICROCORNEA SYNDROME
chr1	145846844	145846845	GJA8	ASP	ASN	47	600897.0007	CATARACT, NUCLEAR PULVERULENT
chr1	145846847	145846848	GJA8	GLU	LYS	48	600897.0002	CATARACT, ZONULAR PULVERULENT 1
chr1	145846967	145846968	GJA8	PRO	SER	88	600897.0001	CATARACT, ZONULAR PULVERULENT 1
chr1	145847298	145847299	GJA8	ARG	GLN	198	600897.0006	CATARACT-MICROCORNEA SYNDROME
chr1	145847446	145847447	GJA8	ILE	MET	247	600897.0003	CATARACT, ZONULAR PULVERULENT 1
chr1	148022403	148022404	FCGR1A	ARG	TER	92	146760.0001	IgG RECEPTOR I, PHAGOCYTIC, FAMILIAL DEFICIENCY OF CD64 DEFICIENCY, FAMILIAL
chr1	148583300	148583301	PRPF3	ALA	ASP	489	607301.0003	RETINITIS PIGMENTOSA 18
chr1	148583311	148583312	PRPF3	PRO	SER	493	607301.0002	RETINITIS PIGMENTOSA 18
chr1	148583315	148583316	PRPF3	THR	MET	494	607301.0001	RETINITIS PIGMENTOSA 18
chr1	148748795	148748796	ECM1	ARG	TER	53	602201.0005	LIPOID PROTEINOSIS OF URBACH AND WIETHE
chr1	148750067	148750070	ECM1	TRP	TER	160	602201.0007	LIPOID PROTEINOSIS OF URBACH AND WIETHE
chr1	148750088	148750089	ECM1	PHE	ILE	167	602201.0006	LIPOID PROTEINOSIS OF URBACH AND WIETHE
chr1	148750883	148750884	ECM1	GLN	TER	346	602201.0002	LIPOID PROTEINOSIS OF URBACH AND WIETHE
chr1	148796073	148796074	ADAMTSL4	TYR	TER	595	610113.0001	ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE
chr1	149035898	149035899	CTSK	TER	TRP	330	601105.0001	PYCNODYSOSTOSIS
chr1	149035962	149035963	CTSK	LEU	PRO	309	601105.0007	PYCNODYSOSTOSIS
chr1	149038327	149038328	CTSK	ALA	VAL	277	601105.0004	PYCNODYSOSTOSIS
chr1	149038706	149038707	CTSK	ARG	TER	241	601105.0003	PYCNODYSOSTOSIS
chr1	149043302	149043303	CTSK	GLY	ARG	146	601105.0002	PYCNODYSOSTOSIS
chr1	149045208	149045209	CTSK	GLY	GLU	79	601105.0005	PYCNODYSOSTOSIS
chr1	149045290	149045291	CTSK	LYS	TER	52	601105.0006	PYCNODYSOSTOSIS
chr1	149583543	149583544	RFX5	ARG	GLN	149	601863.0005	BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E
chr1	150546324	150546325	FLG	SER	TER	2554	135940.0003	ICHTHYOSIS VULGARIS DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO, INCLUDED
chr1	150552484	150552485	FLG	ARG	TER	501	135940.0001	ICHTHYOSIS VULGARIS DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO, INCLUDED
chr1	152407037	152407038	TPM3	TER	SER	286	191030.0002	NEMALINE MYOPATHY 1
chr1	152412070	152412071	TPM3	ARG	HIS	168	191030.0005	 CAP MYOPATHY, TPM3-RELATED, INCLUDED
chr1	152412070	152412071	TPM3	ARG	HIS	168	191030.0005	NEMALINE MYOPATHY 1 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED
chr1	152412071	152412072	TPM3	ARG	GLY	168	191030.0008	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
chr1	152412071	152412072	TPM3	ARG	CYS	168	191030.0009	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION CAP MYOPATHY, TPM3-RELATED, INCLUDED
chr1	152415293	152415294	TPM3	LEU	MET	100	191030.0007	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
chr1	152422125	152422126	TPM3	GLN	TER	32	191030.0004	NEMALINE MYOPATHY 1
chr1	152431024	152431025	TPM3	GLN	TER	32	191030.0004	NEMALINE MYOPATHY 1
chr1	152431092	152431093	TPM3	MET	ARG	9	191030.0001	NEMALINE MYOPATHY 1
chr1	152512637	152512638	HAX1	ARG	TER	86	605998.0005	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3
chr1	152514264	152514265	HAX1	GLN	TER	190	605998.0001	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3
chr1	152693593	152693594	IL6R	ASP	ALA	358	147880.0001	INTERLEUKIN-6 SOLUBLE RECEPTOR, SERUM LEVEL OF
chr1	152810781	152810782	CHRNB2	VAL	LEU	287	118507.0001	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3
chr1	152810781	152810782	CHRNB2	VAL	MET	287	118507.0002	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3
chr1	152824092	152824093	ADAR	PHE	SER	1165	146920.0004	DYSCHROMATOSIS SYMMETRICA HEREDITARIA
chr1	152827681	152827682	ADAR	LYS	TER	952	146920.0003	DYSCHROMATOSIS SYMMETRICA HEREDITARIA
chr1	152827689	152827690	ADAR	LEU	PRO	923	146920.0002	DYSCHROMATOSIS SYMMETRICA HEREDITARIA
chr1	152827767	152827768	ADAR	LEU	PRO	923	146920.0002	DYSCHROMATOSIS SYMMETRICA HEREDITARIA
chr1	152836224	152836225	ADAR	GLN	TER	693	146920.0005	DYSCHROMATOSIS SYMMETRICA HEREDITARIA
chr1	152840321	152840322	ADAR	ARG	TER	474	146920.0001	DYSCHROMATOSIS SYMMETRICA HEREDITARIA
chr1	153379086	153379087	DPM3	LEU	SER	85	605951.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io
chr1	153471640	153471641	GBA	ASP	ASN	443	606463.0048	PARKINSON DISEASE, SUSCEPTIBILITY TO
chr1	153472156	153472157	GBA	VAL	LEU	394	606463.0005	GAUCHER DISEASE, TYPE III GAUCHER DISEASE, TYPE I, INCLUDED
chr1	153472870	153472871	GBA	PRO	LEU	289	606463.0016	GAUCHER DISEASE, TYPE I
chr1	153528259	153528260	PKLR	ARG	GLN	510	609712.0007	PYRUVATE KINASE DEFICIENCY
chr1	153528259	153528260	PKLR	GLY	GLN	37	609712.0008	ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES
chr1	153528332	153528333	PKLR	ARG	TRP	486	609712.0009	PYRUVATE KINASE DEFICIENCY
chr1	153529591	153529592	PKLR	ARG	HIS	479	609712.0006	PYRUVATE KINASE DEFICIENCY, AMISH TYPE
chr1	153529860	153529861	PKLR	GLN	LYS	421	609712.0005	PYRUVATE KINASE DEFICIENCY
chr1	153529860	153529861	PKLR	ARG	HIS	479	609712.0006	PYRUVATE KINASE DEFICIENCY, AMISH TYPE
chr1	153529970	153529971	PKLR	THR	MET	353	609712.0003	PYRUVATE KINASE DEFICIENCY
chr1	153529970	153529971	PKLR	THR	MET	384	609712.0004	PYRUVATE KINASE DEFICIENCY
chr1	153531871	153531872	PKLR	ARG	CYS	132	609712.0002	PYRUVATE KINASE DEFICIENCY
chr1	153531969	153531970	PKLR	SER	TYR	130	609712.0010	PYRUVATE KINASE DEFICIENCY
chr1	154351348	154351349	LMNA	GLN	TER	6	150330.0001	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
chr1	154351501	154351502	LMNA	ALA	PRO	57	150330.0030	HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
chr1	154351510	154351511	LMNA	ARG	GLY	60	150330.0005	CARDIOMYOPATHY, DILATED, 1A LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
chr1	154351586	154351587	LMNA	LEU	ARG	85	150330.0006	CARDIOMYOPATHY, DILATED, 1A
chr1	154367072	154367073	LMNA	ARG	LEU	133	150330.0027	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
chr1	154367072	154367073	LMNA	ARG	PRO	133	150330.0032	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
chr1	154367093	154367094	LMNA	LEU	ARG	140	150330.0031	HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
chr1	154367102	154367103	LMNA	SER	PHE	143	150330.0034	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
chr1	154367107	154367108	LMNA	GLU	LYS	145	150330.0024	HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
chr1	154367155	154367156	LMNA	GLU	LYS	161	150330.0028	CARDIOMYOPATHY, DILATED, 1A
chr1	154370888	154370889	LMNA	ASN	LYS	195	150330.0007	CARDIOMYOPATHY, DILATED, 1A
chr1	154370911	154370912	LMNA	GLU	GLY	203	150330.0008	CARDIOMYOPATHY, DILATED, 1A
chr1	154371243	154371244	LMNA	HIS	TYR	222	150330.0014	EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE
chr1	154371267	154371268	LMNA	ASP	ASN	230	150330.0042	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
chr1	154371324	154371325	LMNA	ARG	TRP	249	150330.0048	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
chr1	154371356	154371357	LMNA	TYR	TER	259	150330.0035	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
chr1	154371682	154371683	LMNA	ARG	CYS	298	150330.0020	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
chr1	154372450	154372451	LMNA	GLU	LYS	358	150330.0049	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED
chr1	154372450	154372451	LMNA	GLU	LYS	358	150330.0049	 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, INCLUDED
chr1	154372508	154372509	LMNA	ARG	HIS	377	150330.0017	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B CARDIOMYOPATHY, DILATED, 1A, INCLUDED
chr1	154372517	154372518	LMNA	LEU	SER	380	150330.0047	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
chr1	154372665	154372666	LMNA	ARG	CYS	399	150330.0043	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
chr1	154372788	154372789	LMNA	VAL	MET	440	150330.0044	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
chr1	154372827	154372828	LMNA	ARG	TRP	453	150330.0002	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
chr1	154373348	154373349	LMNA	GLY	ASP	465	150330.0015	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
chr1	154373365	154373366	LMNA	ARG	CYS	471	150330.0025	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
chr1	154373398	154373399	LMNA	ARG	TRP	482	150330.0011	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
chr1	154373399	154373400	LMNA	ARG	GLN	482	150330.0010	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
chr1	154373399	154373400	LMNA	ARG	LEU	482	150330.0012	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
chr1	154373431	154373432	LMNA	GLN	TER	493	150330.0038	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
chr1	154373617	154373618	LMNA	ARG	CYS	527	150330.0026	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
chr1	154373618	154373619	LMNA	ARG	PRO	527	150330.0003	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
chr1	154373618	154373619	LMNA	ARG	HIS	527	150330.0021	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED
chr1	154373623	154373624	LMNA	ALA	THR	529	150330.0046	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
chr1	154373624	154373625	LMNA	ALA	VAL	529	150330.0037	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
chr1	154373627	154373628	LMNA	LEU	PRO	530	150330.0004	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
chr1	154374085	154374086	LMNA	LYS	ASN	542	150330.0033	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
chr1	154374170	154374171	LMNA	ARG	SER	571	150330.0009	CARDIOMYOPATHY, DILATED, 1A
chr1	154374921	154374922	LMNA	SER	LEU	573	150330.0041	CARDIOMYOPATHY, DILATED, 1A MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED
chr1	154374921	154374922	LMNA	SER	LEU	573	150330.0041	 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
chr1	154374948	154374949	LMNA	ARG	HIS	582	150330.0016	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
chr1	154375011	154375012	LMNA	SER	LEU	573	150330.0041	CARDIOMYOPATHY, DILATED, 1A MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED
chr1	154375011	154375012	LMNA	SER	LEU	573	150330.0041	 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
chr1	154375024	154375025	LMNA	VAL	VAL	607	150330.0040	HUTCHINSON-GILFORD PROGERIA SYNDROME
chr1	154375025	154375026	LMNA	GLY	SER	608	150330.0023	HUTCHINSON-GILFORD PROGERIA SYNDROME
chr1	154375027	154375028	LMNA	GLY	GLY	608	150330.0022	HUTCHINSON-GILFORD PROGERIA SYNDROME RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED
chr1	154375027	154375028	LMNA	GLY	SER	608	150330.0023	HUTCHINSON-GILFORD PROGERIA SYNDROME
chr1	154375117	154375118	LMNA	GLY	GLY	608	150330.0022	HUTCHINSON-GILFORD PROGERIA SYNDROME RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED
chr1	154375133	154375134	LMNA	ARG	CYS	644	150330.0051	VARIANT OF UNKNOWN SIGNIFICANCE
chr1	154399407	154399408	SEMA4A	ASP	HIS	345	607292.0001	RETINITIS PIGMENTOSA 35 CONE-ROD DYSTROPHY 10, INCLUDED
chr1	154399423	154399424	SEMA4A	PHE	CYS	350	607292.0002	RETINITIS PIGMENTOSA 35 CONE-ROD DYSTROPHY 10, INCLUDED
chr1	154413263	154413264	SEMA4A	ARG	GLN	713	607292.0003	RETINITIS PIGMENTOSA 35
chr1	155097374	155097375	NTRK1	GLN	TER	9	191315.0005	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
chr1	155100809	155100810	NTRK1	ARG	SER	85	191315.0006	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
chr1	155110273	155110274	NTRK1	TYR	CYS	359	191315.0012	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
chr1	155112911	155112912	NTRK1	GLY	ARG	571	191315.0003	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
chr1	155112941	155112942	NTRK1	MET	VAL	581	191315.0013	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
chr1	155115541	155115542	NTRK1	HIS	TYR	598	191315.0005	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
chr1	155115569	155115570	NTRK1	GLY	VAL	607	191315.0005	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
chr1	155115649	155115650	NTRK1	TYR	HIS	604	191315.0008	THYROID CARCINOMA, FAMILIAL MEDULLARY
chr1	155115659	155115660	NTRK1	GLY	VAL	607	191315.0005	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
chr1	155116451	155116452	NTRK1	PRO	LEU	689	191315.0011	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
chr1	155118005	155118006	NTRK1	ARG	PRO	774	191315.0004	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
chr1	156891151	156891152	SPTA1	ALA	ASP	970	182860.0009	SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE
chr1	156899206	156899207	SPTA1	ASP	GLU	791	182860.0018	ELLIPTOCYTOSIS 2
chr1	156908548	156908549	SPTA1	GLN	PRO	471	182860.0002	ELLIPTOCYTOSIS 2
chr1	156914845	156914846	SPTA1	SER	PRO	261	182860.0004	ELLIPTOCYTOSIS 2
chr1	156914847	156914848	SPTA1	LEU	PRO	260	182860.0001	ELLIPTOCYTOSIS 2
chr1	156917054	156917055	SPTA1	LEU	PRO	207	182860.0016	PYROPOIKILOCYTOSIS, HEREDITARY ELLIPTOCYTOSIS 2, INCLUDED
chr1	156921642	156921643	SPTA1	LYS	ARG	48	182860.0017	PYROPOIKILOCYTOSIS, HEREDITARY
chr1	156921648	156921649	SPTA1	GLY	VAL	46	182860.0006	ELLIPTOCYTOSIS 2
chr1	156921650	156921651	SPTA1	ARG	SER	45	182860.0005	PYROPOIKILOCYTOSIS, HEREDITARY ELLIPTOCYTOSIS 2, INCLUDED
chr1	156921664	156921665	SPTA1	ARG	TRP	41	182860.0010	ELLIPTOCYTOSIS 2
chr1	156921702	156921703	SPTA1	ARG	LEU	28	182860.0011	ELLIPTOCYTOSIS 2
chr1	156921702	156921703	SPTA1	ARG	HIS	28	182860.0014	ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS, HEREDITARY, INCLUDED
chr1	156921703	156921704	SPTA1	ARG	SER	28	182860.0012	ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS, HEREDITARY, INCLUDED
chr1	156921703	156921704	SPTA1	ARG	CYS	28	182860.0013	ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS, HEREDITARY, INCLUDED
chr1	158277904	158277905	KCNJ10	ARG	CYS	348	602208.0009	ENLARGED VESTIBULAR AQUEDUCT, DIGENIC
chr1	158278057	158278058	KCNJ10	ARG	CYS	297	602208.0006	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
chr1	158278351	158278352	KCNJ10	ARG	TER	199	602208.0002	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
chr1	158278446	158278447	KCNJ10	ALA	VAL	167	602208.0005	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
chr1	158278455	158278456	KCNJ10	THR	ILE	164	602208.0004	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
chr1	158278528	158278529	KCNJ10	CYS	ARG	140	602208.0003	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
chr1	158278717	158278718	KCNJ10	GLY	ARG	77	602208.0007	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
chr1	158278752	158278753	KCNJ10	ARG	PRO	65	602208.0001	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
chr1	158359641	158359642	ATP1A2	ARG	TRP	65	182340.0013	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158364073	158364074	ATP1A2	ILE	THR	286	182340.0011	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158364117	158364118	ATP1A2	GLY	ARG	301	182340.0006	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158365080	158365081	ATP1A2	THR	ALA	345	182340.0007	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158365174	158365175	ATP1A2	THR	MET	376	182340.0014	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158365180	158365181	ATP1A2	THR	ASN	378	182340.0005	ALTERNATING HEMIPLEGIA OF CHILDHOOD
chr1	158365420	158365421	ATP1A2	THR	MET	415	182340.0012	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158366696	158366697	ATP1A2	ARG	HIS	548	182340.0010	MIGRAINE, FAMILIAL BASILAR
chr1	158371659	158371660	ATP1A2	ARG	GLN	689	182340.0004	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158371883	158371884	ATP1A2	ASP	ASN	718	182340.0008	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158371923	158371924	ATP1A2	MET	THR	731	182340.0003	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158372258	158372259	ATP1A2	LEU	PRO	764	182340.0001	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158373078	158373079	ATP1A2	TRP	ARG	887	182340.0002	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	158376148	158376149	ATP1A2	PRO	LEU	979	182340.0009	MIGRAINE, FAMILIAL HEMIPLEGIC, 2
chr1	159403295	159403296	PPOX	ILE	THR	12	600923.0012	VARIEGATE PORPHYRIA, HOMOZYGOUS
chr1	159403319	159403320	PPOX	HIS	PRO	20	600923.0005	VARIEGATE PORPHYRIA
chr1	159403600	159403601	PPOX	ARG	TRP	59	600923.0003	VARIEGATE PORPHYRIA
chr1	159404875	159404876	PPOX	ARG	CYS	168	600923.0004	VARIEGATE PORPHYRIA
chr1	159404876	159404877	PPOX	ARG	HIS	168	600923.0006	VARIEGATE PORPHYRIA
chr1	159405483	159405484	PPOX	GLY	ARG	232	600923.0002	VARIEGATE PORPHYRIA
chr1	159405556	159405557	PPOX	PRO	ARG	256	600923.0013	VARIEGATE PORPHYRIA, HOMOZYGOUS
chr1	159406880	159406881	PPOX	ASP	ALA	349	600923.0007	VARIEGATE PORPHYRIA, HOMOZYGOUS
chr1	159446325	159446326	NDUFS2	ARG	GLN	228	602985.0001	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr1	159446328	159446329	NDUFS2	PRO	GLN	229	602985.0002	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr1	159450086	159450087	NDUFS2	SER	PRO	413	602985.0003	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr1	159543293	159543294	MPZ	VAL	VAL	102	159440.0035	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
chr1	159543333	159543334	MPZ	ILE	ASN	89	159440.0017	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I
chr1	159784906	159784907	FCGR3A	ASP	ASN	82	146740.0001	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2
chr1	159784909	159784910	FCGR3A	ASP	ASN	82	146740.0001	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2
chr1	159785045	159785046	FCGR3A	ARG	SER	36	146740.0001	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2
chr1	159786115	159786116	FCGR3A	LEU	HIS	48	146740.0002	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO
chr1	159910421	159910422	FCGR2B	ILE	THR	232	604590.0002	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO MALARIA, RESISTANCE TO, INCLUDED
chr1	161012638	161012639	DDR2	THR	ILE	713	191311.0003	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
chr1	161012677	161012678	DDR2	ILE	ARG	726	191311.0002	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
chr1	161012754	161012755	DDR2	ARG	CYS	752	191311.0001	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
chr1	165675215	165675216	CD247	GLN	TER	70	186780.0001	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA
chr1	166527074	166527075	TBX19	MET	ARG	86	604614.0003	ACTH DEFICIENCY, ISOLATED
chr1	166527200	166527201	TBX19	SER	PHE	128	604614.0002	ACTH DEFICIENCY, ISOLATED
chr1	166540997	166540998	TBX19	ARG	TER	286	604614.0001	ACTH DEFICIENCY, ISOLATED
chr1	167704656	167704659	SLC19A2	TRP	TER	358	603941.0009	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
chr1	167713075	167713078	SLC19A2	TRP	TER	250	603941.0004	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
chr1	167713308	167713309	SLC19A2	GLY	ASP	172	603941.0003	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
chr1	167713339	167713340	SLC19A2	ARG	TER	162	603941.0001	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
chr1	167831969	167831970	SELP	VAL	LEU	640	173610.0002	ATOPY, SUSCEPTIBILITY TO
chr1	167963569	167963570	SELE	HIS	TYR	468	131210.0001	IgA NEPHROPATHY, SUSCEPTIBILITY TO
chr1	169328516	169328517	FMO3	GLU	LYS	32	136132.0013	TRIMETHYLAMINURIA
chr1	169339570	169339571	FMO3	ALA	THR	52	136132.0008	TRIMETHYLAMINURIA
chr1	169339598	169339599	FMO3	ASN	SER	61	136132.0010	TRIMETHYLAMINURIA
chr1	169339614	169339615	FMO3	MET	ILE	66	136132.0003	TRIMETHYLAMINURIA
chr1	169343559	169343560	FMO3	GLY	TER	148	136132.0006	FMO3 ACTIVITY, DECREASED
chr1	169343575	169343576	FMO3	PRO	LEU	153	136132.0004	TRIMETHYLAMINURIA
chr1	169343589	169343590	FMO3	GLU	LYS	158	136132.0015	TRIMETHYLAMINURIA, MILD
chr1	169346703	169346704	FMO3	VAL	MET	257	136132.0002	TRIMETHYLAMINURIA
chr1	169349855	169349856	FMO3	GLU	TER	305	136132.0001	TRIMETHYLAMINURIA
chr1	169349865	169349866	FMO3	GLU	GLY	308	136132.0015	TRIMETHYLAMINURIA, MILD
chr1	169349882	169349883	FMO3	GLU	TER	314	136132.0009	TRIMETHYLAMINURIA
chr1	169350102	169350103	FMO3	ARG	LEU	387	136132.0007	TRIMETHYLAMINURIA
chr1	169352908	169352909	FMO3	MET	ILE	434	136132.0011	TRIMETHYLAMINURIA
chr1	169353080	169353081	FMO3	ARG	TRP	492	136132.0005	TRIMETHYLAMINURIA
chr1	169871762	169871763	MYOC	ASN	LYS	480	601652.0006	GLAUCOMA 1, OPEN ANGLE, A
chr1	169871772	169871773	MYOC	ILE	SER	477	601652.0005	GLAUCOMA 1, OPEN ANGLE, A
chr1	169871772	169871773	MYOC	ILE	ASN	477	601652.0017	GLAUCOMA 1, OPEN ANGLE, A
chr1	169871893	169871894	MYOC	TYR	HIS	437	601652.0001	GLAUCOMA 1, OPEN ANGLE, A
chr1	169871905	169871906	MYOC	CYS	ARG	433	601652.0012	GLAUCOMA 1, OPEN ANGLE, A
chr1	169871935	169871936	MYOC	LYS	GLU	423	601652.0010	GLAUCOMA 1, OPEN ANGLE, A
chr1	169872006	169872007	MYOC	GLY	VAL	399	601652.0013	GLAUCOMA 1, OPEN ANGLE, A, DIGENIC
chr1	169872064	169872065	MYOC	ASP	HIS	380	601652.0017	GLAUCOMA 1, OPEN ANGLE, A
chr1	169872093	169872094	MYOC	PRO	LEU	370	601652.0004	GLAUCOMA 1, OPEN ANGLE, A
chr1	169872100	169872101	MYOC	GLN	TER	368	601652.0003	GLAUCOMA 1, OPEN ANGLE, A
chr1	169872103	169872104	MYOC	GLY	ARG	367	601652.0008	GLAUCOMA 1, OPEN ANGLE, A
chr1	169872192	169872193	MYOC	GLN	ARG	337	601652.0009	GLAUCOMA 1, OPEN ANGLE, A
chr1	169872448	169872449	MYOC	GLY	ARG	252	601652.0016	GLAUCOMA 1, OPEN ANGLE, A
chr1	169872468	169872469	MYOC	CYS	TYR	245	601652.0015	GLAUCOMA 1, OPEN ANGLE, A
chr1	169888230	169888231	MYOC	GLN	HIS	48	601652.0014	GLAUCOMA 1, OPEN ANGLE, A GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC, INCLUDED
chr1	169888238	169888239	MYOC	ARG	TER	46	601652.0011	GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE
chr1	172062452	172062453	DARS2	SER	GLY	45	610956.0007	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
chr1	172067353	172067354	DARS2	CYS	PHE	152	610956.0005	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
chr1	172069179	172069180	DARS2	ARG	HIS	179	610956.0008	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
chr1	172073966	172073967	DARS2	ARG	TER	263	610956.0003	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
chr1	172073967	172073968	DARS2	ARG	GLN	263	610956.0004	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
chr1	172086168	172086169	DARS2	GLU	TER	425	610956.0009	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
chr1	172093364	172093365	DARS2	LEU	PHE	613	610956.0010	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
chr1	172093403	172093404	DARS2	LEU	VAL	626	610956.0002	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
chr1	172093404	172093405	DARS2	LEU	GLN	626	610956.0011	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
chr1	172139758	172139759	SERPINC1	PRO	LEU	429	107300.0035	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY
chr1	172147624	172147625	SERPINC1	ASN	ASP	187	107300.0046	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY
chr1	172150375	172150376	SERPINC1	SER	PRO	116	107300.0043	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY
chr1	177788362	177788363	NPHS2	ARG	TRP	291	604766.0010	NEPHROTIC SYNDROME, STEROID-RESISTANT
chr1	177792984	177792985	NPHS2	VAL	MET	180	604766.0009	NEPHROTIC SYNDROME, STEROID-RESISTANT
chr1	177795491	177795492	NPHS2	ASP	GLY	160	604766.0008	NEPHROTIC SYNDROME, STEROID-RESISTANT
chr1	177797084	177797085	NPHS2	ARG	GLN	138	604766.0001	NEPHROTIC SYNDROME, STEROID-RESISTANT
chr1	177797085	177797086	NPHS2	ARG	TER	138	604766.0002	NEPHROTIC SYNDROME, STEROID-RESISTANT
chr1	177811348	177811349	NPHS2	GLY	CYS	92	604766.0007	NEPHROTIC SYNDROME, STEROID-RESISTANT
chr1	177811563	177811564	NPHS2	PRO	LEU	20	604766.0006	NEPHROTIC SYNDROME, STEROID-RESISTANT
chr1	178502150	178502151	LHX4	ARG	CYS	84	602146.0003	PITUITARY HORMONE DEFICIENCY, COMBINED, 4
chr1	178507254	178507255	LHX4	LEU	ARG	190	602146.0004	PITUITARY HORMONE DEFICIENCY, COMBINED, 4
chr1	178507613	178507614	LHX4	ALA	PRO	210	602146.0002	PITUITARY HORMONE DEFICIENCY, COMBINED, 4
chr1	180620263	180620264	GLUL	ARG	CYS	341	138290.0002	GLUTAMINE DEFICIENCY, CONGENITAL
chr1	180620314	180620315	GLUL	ARG	CYS	324	138290.0001	GLUTAMINE DEFICIENCY, CONGENITAL
chr1	180821179	180821180	RNASEL	ARG	GLN	462	180435.0003	PROSTATE CANCER, SUSCEPTIBILITY TO
chr1	180821771	180821772	RNASEL	GLU	TER	265	180435.0001	PROSTATE CANCER, HEREDITARY, 1
chr1	180822561	180822562	RNASEL	MET	ILE	1	180435.0002	PROSTATE CANCER, HEREDITARY, 1
chr1	181451224	181451225	LAMC2	ARG	TER	95	150292.0002	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
chr1	181457938	181457939	LAMC2	ARG	TER	245	150292.0006	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
chr1	181461476	181461477	LAMC2	TYR	TER	355	150292.0003	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
chr1	181464321	181464322	LAMC2	CYS	TER	553	150292.0004	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
chr1	181799059	181799060	NCF2	ARG	TRP	395	608515.0010	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II
chr1	181810362	181810363	NCF2	ALA	VAL	128	608515.0007	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II
chr1	181813424	181813425	NCF2	GLN	TER	100	608515.0009	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II
chr1	181822679	181822680	NCF2	ARG	GLN	77	608515.0008	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II
chr1	184414260	184414261	HMCN1	GLN	ARG	5345	608548.0001	MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
chr1	185129918	185129919	PLA2G4A	SER	PRO	111	600522.0001	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF
chr1	185191973	185191974	PLA2G4A	ARG	HIS	485	600522.0002	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF
chr1	194911770	194911771	CFH	ARG	LEU	127	134370.0013	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY
chr1	194913365	194913366	CFH	GLU	TER	189	134370.0006	COMPLEMENT FACTOR H DEFICIENCY
chr1	194925877	194925878	CFH	GLN	TER	408	134370.0019	BASAL LAMINAR DRUSEN
chr1	194925946	194925949	CFH	CYS	SER	431	134370.0010	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY
chr1	194951431	194951432	CFH	CYS	ARG	536	134370.0002	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY
chr1	194973327	194973328	CFH	TYR	TER	899	134370.0012	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
chr1	194976464	194976465	CFH	CYS	TYR	959	134370.0003	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY
chr1	194979304	194979305	CFH	ARG	SER	1078	134370.0020	BASAL LAMINAR DRUSEN
chr1	194982883	194982884	CFH	GLU	TER	1172	134370.0018	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
chr1	194982935	194982936	CFH	LEU	ARG	1189	134370.0007	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
chr1	194982941	194982942	CFH	SER	LEU	1191	134370.0004	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
chr1	194982961	194982962	CFH	GLU	TER	1198	134370.0022	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
chr1	194982997	194982998	CFH	ARG	CYS	1210	134370.0017	GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR H DEFICIENCY HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1, INCLUDED
chr1	194983012	194983013	CFH	ARG	GLY	1215	134370.0001	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
chr1	195328920	195328921	ASPM	GLN	TER	3060	605481.0005	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5
chr1	195338814	195338815	ASPM	TYR	TER	2063	605481.0008	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5
chr1	195353630	195353633	ASPM	TRP	TER	1326	605481.0006	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5
chr1	195379801	195379802	ASPM	ARG	TER	117	605481.0007	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5
chr1	195564587	195564588	CRB1	VAL	MET	162	604210.0010	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
chr1	195663311	195663312	CRB1	THR	MET	745	604210.0005	RETINITIS PIGMENTOSA 12
chr1	195663367	195663368	CRB1	ARG	CYS	764	604210.0004	RETINITIS PIGMENTOSA 12
chr1	195663478	195663479	CRB1	LYS	TER	801	604210.0008	RETINITIS PIGMENTOSA 12
chr1	195670598	195670599	CRB1	GLU	TER	995	604210.0003	RETINITIS PIGMENTOSA 12
chr1	195670737	195670738	CRB1	MET	THR	1041	604210.0002	RETINITIS PIGMENTOSA 12
chr1	195670914	195670915	CRB1	ILE	ARG	1100	604210.0006	LEBER CONGENITAL AMAUROSIS 8
chr1	195670922	195670923	CRB1	GLY	ARG	1103	604210.0011	LEBER CONGENITAL AMAUROSIS 8
chr1	195671156	195671157	CRB1	CYS	ARG	1181	604210.0009	RETINITIS PIGMENTOSA 12
chr1	195678036	195678037	CRB1	GLU	TER	1333	604210.0007	LEBER CONGENITAL AMAUROSIS 8
chr1	199289288	199289289	CACNA1S	ARG	HIS	1239	114208.0001	HYPOKALEMIC PERIODIC PARALYSIS
chr1	199289289	199289290	CACNA1S	ARG	GLY	1239	114208.0002	HYPOKALEMIC PERIODIC PARALYSIS
chr1	199296565	199296566	CACNA1S	ARG	HIS	1086	114208.0004	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
chr1	199302033	199302034	CACNA1S	ARG	SER	897	114208.0008	HYPOKALEMIC PERIODIC PARALYSIS
chr1	199313665	199313666	CACNA1S	ARG	HIS	528	114208.0003	HYPOKALEMIC PERIODIC PARALYSIS
chr1	199553385	199553386	PKP1	GLN	TER	304	601975.0001	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
chr1	199594995	199594996	TNNT2	ARG	CYS	278	191045.0004	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2
chr1	199595386	199595387	TNNT2	ASP	ASN	270	191045.0010	CARDIOMYOPATHY, DILATED, 1D
chr1	199597738	199597739	TNNT2	ARG	LEU	205	191045.0009	CARDIOMYOPATHY, DILATED, 1D
chr1	199600086	199600087	TNNT2	ARG	TRP	141	191045.0007	CARDIOMYOPATHY, DILATED, 1D
chr1	199600116	199600117	TNNT2	ARG	TRP	141	191045.0007	CARDIOMYOPATHY, DILATED, 1D
chr1	199600116	199600117	TNNT2	ARG	TRP	131	191045.0008	CARDIOMYOPATHY, DILATED, 1D
chr1	199600994	199600995	TNNT2	PHE	ILE	110	191045.0005	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2
chr1	199601047	199601048	TNNT2	ARG	GLN	92	191045.0002	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2
chr1	199601388	199601389	TNNT2	ILE	ASN	79	191045.0001	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 CARDIOMYOPATHY, DILATED, 1D, INCLUDED
chr1	199601388	199601389	TNNT2	ILE	ASN	79	191045.0001	 CARDIOMYOPATHY, FAMILIAL, RESTRICTIVE, 3, INCLUDED
chr1	201453492	201453495	CHIT1	LEU	LEU	385	600031.0002	CHITOTRIOSIDASE DEFICIENCY
chr1	201453585	201453586	CHIT1	GLY	ARG	354	600031.0002	CHITOTRIOSIDASE DEFICIENCY
chr1	201460808	201460809	CHIT1	GLY	SER	102	600031.0004	CHITOTRIOSIDASE DEFICIENCY
chr1	201461456	201461457	CHIT1	GLU	LYS	74	600031.0003	CHITOTRIOSIDASE DEFICIENCY
chr1	202390828	202390829	REN	ARG	TER	387	179820.0001	HYPERPRORENINEMIA, FAMILIAL
chr1	202395149	202395150	REN	ARG	LYS	230	179820.0003	RENAL TUBULAR DYSGENESIS
chr1	202397867	202397868	REN	ARG	TER	49	179820.0002	RENAL TUBULAR DYSGENESIS
chr1	202401997	202401998	REN	LEU	ARG	16	179820.0005	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2
chr1	205173100	205173101	PIGR	ALA	VAL	580	173880.0001	IgA NEPHROPATHY, SUSCEPTIBILITY TO
chr1	207858522	207858523	LAMB3	GLN	TER	936	150310.0009	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
chr1	207865688	207865689	LAMB3	ARG	TER	635	150310.0001	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, INCLUDED
chr1	207865763	207865766	LAMB3	TRP	TER	610	150310.0008	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
chr1	207873037	207873038	LAMB3	GLU	LYS	210	150310.0006	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
chr1	207873046	207873047	LAMB3	LYS	GLN	207	150310.0015	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT
chr1	207873069	207873070	LAMB3	GLY	ALA	199	150310.0013	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT
chr1	207874482	207874483	LAMB3	GLN	TER	166	150310.0007	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
chr1	207889990	207889991	LAMB3	ARG	TER	42	150310.0003	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, INCLUDED
chr1	208028593	208028594	IRF6	ARG	TRP	400	607199.0009	VAN DER WOUDE SYNDROME
chr1	208028605	208028606	IRF6	PRO	SER	396	607199.0012	VAN DER WOUDE SYNDROME
chr1	208029636	208029637	IRF6	GLN	TER	393	607199.0003	POPLITEAL PTERYGIUM SYNDROME
chr1	208030506	208030507	IRF6	ARG	ILE	339	607199.0013	VAN DER WOUDE SYNDROME-POPLITEAL PTERYGIUM SYNDROME
chr1	208036420	208036421	IRF6	GLU	TER	92	607199.0001	VAN DER WOUDE SYNDROME
chr1	208036443	208036444	IRF6	ARG	HIS	84	607199.0005	POPLITEAL PTERYGIUM SYNDROME
chr1	208036444	208036445	IRF6	ARG	CYS	84	607199.0004	POPLITEAL PTERYGIUM SYNDROME
chr1	208041247	208041248	IRF6	ARG	GLN	45	607199.0011	VAN DER WOUDE SYNDROME
chr1	208041365	208041366	IRF6	ARG	CYS	6	607199.0007	VAN DER WOUDE SYNDROME
chr1	208041376	208041377	IRF6	ALA	VAL	2	607199.0006	VAN DER WOUDE SYNDROME
chr1	213911049	213911050	USH2A	ARG	GLY	4674	608400.0012	RETINITIS PIGMENTOSA 39
chr1	213968197	213968200	USH2A	TRP	TER	3955	608400.0007	USHER SYNDROME, TYPE IIA
chr1	214487082	214487083	USH2A	CYS	PHE	759	608400.0006	RETINITIS PIGMENTOSA 39
chr1	214487149	214487150	USH2A	ARG	TER	737	608400.0011	USHER SYNDROME, TYPE IIA RETINITIS PIGMENTOSA 39, INCLUDED
chr1	214564204	214564205	USH2A	CYS	PHE	419	608400.0009	USHER SYNDROME, TYPE IIA
chr1	214565456	214565457	USH2A	CYS	TYR	319	608400.0005	USHER SYNDROME, TYPE IIA
chr1	214565463	214565466	USH2A	ARG	ARG	317	608400.0008	USHER SYNDROME, TYPE IIA
chr1	214604922	214604923	USH2A	LEU	TER	260	608400.0004	USHER SYNDROME, TYPE IIA
chr1	221351221	221351222	TLR5	ASN	SER	592	603031.0002	LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO
chr1	221351822	221351823	TLR5	ARG	TER	392	603031.0001	LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED
chr1	223657769	223657770	LBR	PRO	ARG	569	600024.0006	PELGER-HUET ANOMALY
chr1	223676411	223676412	LBR	PRO	LEU	119	600024.0004	PELGER-HUET ANOMALY
chr1	224086255	224086256	EPHX1	TYR	HIS	113	132810.0001	 EMPHYSEMA, SUSCEPTIBILITY TO, INCLUDED
chr1	224086255	224086256	EPHX1	TYR	HIS	113	132810.0001	LYMPHOPROLIFERATIVE DISORDERS, SUSCEPTIBILITY TO PREECLAMPSIA, SUSCEPTIBILITY TO, INCLUDED
chr1	224086255	224086256	EPHX1	TYR	HIS	113	132810.0001	 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SUSCEPTIBILITY TO, INCLUDED
chr1	224093028	224093029	EPHX1	HIS	ARG	139	132810.0002	EPOXIDE HYDROLASE POLYMORPHISM
chr1	224191924	224191925	LEFTY2	ARG	TER	314	601877.0001	LEFT-RIGHT AXIS MALFORMATIONS
chr1	224191924	224191925	LEFTY2	SER	LYS	342	601877.0002	LEFT-RIGHT AXIS MALFORMATIONS
chr1	225138140	225138141	PSEN2	ALA	VAL	85	600759.0009	ALZHEIMER DISEASE, FAMILIAL, 4
chr1	225139868	225139869	PSEN2	THR	PRO	122	600759.0005	ALZHEIMER DISEASE, FAMILIAL, 4
chr1	225139869	225139870	PSEN2	THR	ARG	122	600759.0007	ALZHEIMER DISEASE, FAMILIAL, 4
chr1	225139893	225139894	PSEN2	SER	LEU	130	600759.0008	CARDIOMYOPATHY, DILATED, 1V ALZHEIMER DISEASE, FAMILIAL, 4, INCLUDED
chr1	225139926	225139927	PSEN2	ASN	ILE	141	600759.0001	ALZHEIMER DISEASE, FAMILIAL, 4
chr1	225143300	225143301	PSEN2	MET	VAL	239	600759.0002	ALZHEIMER DISEASE, FAMILIAL, 4
chr1	225143302	225143303	PSEN2	MET	ILE	239	600759.0006	ALZHEIMER DISEASE, FAMILIAL, 4
chr1	225149844	225149845	PSEN2	THR	MET	430	600759.0004	ALZHEIMER DISEASE, FAMILIAL, 4
chr1	225149871	225149872	PSEN2	ASP	ALA	439	600759.0003	ALZHEIMER DISEASE, FAMILIAL, 4
chr1	225220042	225220043	CABC1	ARG	TRP	213	606980.0002	COENZYME Q10 DEFICIENCY
chr1	225236434	225236435	CABC1	GLY	VAL	272	606980.0003	COENZYME Q10 DEFICIENCY
chr1	225236434	225236435	CABC1	GLY	ASP	272	606980.0004	COENZYME Q10 DEFICIENCY
chr1	225239233	225239234	CABC1	TYR	CYS	514	606980.0008	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
chr1	225239649	225239650	CABC1	GLY	SER	549	606980.0011	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
chr1	225239655	225239656	CABC1	GLU	LYS	551	606980.0001	COENZYME Q10 DEFICIENCY
chr1	226412349	226412350	GJC2	PRO	SER	90	608803.0002	LEUKODYSTROPHY, HYPOMYELINATING, 2
chr1	226412799	226412800	GJC2	ARG	TER	240	608803.0004	LEUKODYSTROPHY, HYPOMYELINATING, 2
chr1	226412895	226412896	GJC2	TYR	ASP	272	608803.0005	LEUKODYSTROPHY, HYPOMYELINATING, 2
chr1	226412938	226412939	GJC2	MET	THR	286	608803.0001	LEUKODYSTROPHY, HYPOMYELINATING, 2
chr1	227635156	227635157	ACTA1	HIS	TYR	75	102610.0015	NEMALINE MYOPATHY 3
chr1	227635157	227635158	ACTA1	GLU	ASP	74	102610.0015	NEMALINE MYOPATHY 3
chr1	227635442	227635443	ACTA1	GLY	ARG	15	102610.0003	MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS
chr1	228908301	228908302	AGT	ARG	GLN	375	106150.0003	RENAL TUBULAR DYSGENESIS
chr1	228908301	228908302	SERPINC1	ASP	LYS	309	107300.0032	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY
chr1	229467723	229467724	GNPAT	ARG	CYS	211	602744.0002	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
chr1	229467724	229467725	GNPAT	ARG	HIS	211	602744.0001	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
chr1	229572957	229572958	EGLN1	HIS	ARG	374	606425.0003	ERYTHROCYTOSIS, FAMILIAL, 3
chr1	229572966	229572967	EGLN1	ARG	HIS	371	606425.0002	ERYTHROCYTOSIS, FAMILIAL, 3
chr1	229576409	229576410	EGLN1	PRO	ARG	317	606425.0001	ERYTHROCYTOSIS, FAMILIAL, 3
chr1	233667408	233667409	TBCE	CYS	TER	371	604934.0003	HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
chr1	234712288	234712289	EDARADD	LEU	ARG	112	606603.0002	ECTODERMAL DYSPLASIA, ANHIDROTIC, AUTOSOMAL DOMINANT
chr1	234712377	234712378	EDARADD	GLU	LYS	142	606603.0001	ECTODERMAL DYSPLASIA, ANHIDROTIC, AUTOSOMAL RECESSIVE
chr1	234916621	234916622	ACTN2	GLN	ARG	9	102573.0001	CARDIOMYOPATHY, DILATED, 1AA
chr1	235065508	235065509	MTR	ALA	PRO	410	156570.0011	METHYLCOBALAMIN DEFICIENCY, cblG TYPE
chr1	235082500	235082501	MTR	ARG	TER	585	156570.0009	METHYLCOBALAMIN DEFICIENCY, cblG TYPE
chr1	235115124	235115125	MTR	HIS	ASP	920	156570.0003	METHYLCOBALAMIN DEFICIENCY, cblG TYPE
chr1	235125392	235125393	MTR	PRO	LEU	1173	156570.0001	METHYLCOBALAMIN DEFICIENCY, cblG TYPE
chr1	235684318	235684319	RYR2	LEU	PRO	433	180902.0006	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
chr1	235864859	235864860	RYR2	SER	LEU	2246	180902.0001	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CPVT1
chr1	235868990	235868991	RYR2	PRO	SER	2328	180902.0007	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CPVT1
chr1	235870860	235870861	RYR2	ASN	ILE	2386	180902.0005	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
chr1	235878445	235878446	RYR2	ARG	SER	2474	180902.0002	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CPVT1
chr1	236013946	236013947	RYR2	ASN	LYS	4104	180902.0003	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CPVT1
chr1	236014236	236014237	RYR2	GLN	ARG	4201	180902.0009	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CPVT1
chr1	236021363	236021364	RYR2	ARG	CYS	4497	180902.0004	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CPVT1
chr1	236027959	236027960	RYR2	VAL	PHE	4653	180902.0008	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CPVT1
chr1	236049103	236049104	RYR2	ALA	GLY	4860	180902.0010	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CPVT1
chr1	239736036	239736037	FH	ALA	THR	265	136850.0001	FUMARASE DEFICIENCY
chr1	239747180	239747181	FH	ASN	THR	64	136850.0004	MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA LEIOMYOMATOSIS AND RENAL CELL CANCER, INCLUDED
chr2	1467374	1467375	TPO	ILE	PHE	447	606765.0004	THYROID DYSHORMONOGENESIS 2A
chr2	1467392	1467393	TPO	TYR	ASP	453	606765.0005	THYROID DYSHORMONOGENESIS 2A
chr2	1470619	1470620	TPO	ARG	TER	540	606765.0003	THYROID DYSHORMONOGENESIS 2A
chr2	1470769	1470770	TPO	GLY	SER	590	606765.0006	THYROID DYSHORMONOGENESIS 2A
chr2	1476687	1476688	TPO	TYR	ASP	453	606765.0005	THYROID DYSHORMONOGENESIS 2A
chr2	1476754	1476755	TPO	ARG	GLN	648	606765.0009	THYROID DYSHORMONOGENESIS 2A
chr2	1476789	1476790	TPO	GLN	GLU	660	606765.0014	THYROID DYSHORMONOGENESIS 2A
chr2	1478837	1478838	TPO	ARG	TRP	693	606765.0012	THYROID DYSHORMONOGENESIS 2A
chr2	1486734	1486735	TPO	GLU	LYS	799	606765.0007	THYROID DYSHORMONOGENESIS 2A
chr2	10105573	10105574	KLF11	THR	MET	220	603301.0002	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7
chr2	11831242	11831243	LPIN1	GLU	TER	215	605518.0001	MYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE
chr2	11841410	11841411	LPIN1	ARG	TER	388	605518.0002	MYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE
chr2	11877166	11877167	LPIN1	ARG	TER	801	605518.0003	MYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE
chr2	15999853	15999854	MYCN	GLU	TER	73	164840.0004	FEINGOLD SYNDROME MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE, INCLUDED
chr2	15999865	15999868	MYCN	TRP	TER	77	164840.0007	FEINGOLD SYNDROME
chr2	16003419	16003420	MYCN	ARG	HIS	382	164840.0006	FEINGOLD SYNDROME
chr2	16003451	16003452	MYCN	ARG	SER	393	164840.0002	FEINGOLD SYNDROME
chr2	16003452	16003453	MYCN	ARG	HIS	393	164840.0001	FEINGOLD SYNDROME
chr2	16003455	16003456	MYCN	ARG	HIS	394	164840.0003	FEINGOLD SYNDROME
chr2	20066408	20066411	MATN3	CYS	SER	304	602109.0005	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATED
chr2	20066410	20066411	MATN3	THR	MET	303	602109.0003	OSTEOARTHRITIS SUSCEPTIBILITY 2
chr2	20069119	20069120	MATN3	ALA	ASP	219	602109.0004	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
chr2	20069194	20069195	MATN3	VAL	ASP	194	602109.0001	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
chr2	20069393	20069394	MATN3	ALA	PRO	128	602109.0007	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
chr2	20069414	20069415	MATN3	ARG	TRP	121	602109.0002	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
chr2	20075664	20075665	MATN3	ARG	HIS	70	602109.0006	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
chr2	21088061	21088062	APOB	ASN	THR	1728	107730.0001	HYPOBETALIPOPROTEINEMIA, FAMILIAL
chr2	25237551	25237552	POMC	ARG	GLY	236	176830.0004	OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO
chr2	26286212	26286213	HADHA	LEU	PRO	342	600890.0007	LCHAD DEFICIENCY
chr2	26339823	26339824	HADHB	ARG	HIS	61	143450.0002	TRIFUNCTIONAL PROTEIN DEFICIENCY
chr2	26355615	26355616	HADHB	ARG	HIS	247	143450.0003	TRIFUNCTIONAL PROTEIN DEFICIENCY
chr2	26355663	26355664	HADHB	ASP	GLY	263	143450.0001	TRIFUNCTIONAL PROTEIN DEFICIENCY
chr2	26538127	26538128	OTOF	PRO	ALA	1825	603681.0005	DEAFNESS, AUTOSOMAL RECESSIVE 9
chr2	26542056	26542057	OTOF	GLN	TER	829	603681.0004	DEAFNESS, AUTOSOMAL RECESSIVE 9
chr2	26543094	26543095	OTOF	TYR	TER	730	603681.0001	DEAFNESS, AUTOSOMAL RECESSIVE 9
chr2	26551824	26551825	OTOF	LEU	PRO	1011	603681.0010	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1
chr2	26553581	26553582	OTOF	GLN	TER	829	603681.0004	DEAFNESS, AUTOSOMAL RECESSIVE 9
chr2	26558812	26558813	OTOF	ILE	THR	515	603681.0011	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1
chr2	27168728	27168729	KHK	GLY	ARG	40	229800.0001	FRUCTOSURIA, ESSENTIAL
chr2	27168737	27168738	KHK	ALA	THR	43	229800.0002	FRUCTOSURIA, ESSENTIAL
chr2	27386316	27386317	MPV17	ASN	LYS	166	137960.0002	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
chr2	27388881	27388884	MPV17	TRP	TER	120	137960.0005	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
chr2	27389401	27389402	MPV17	ARG	GLN	50	137960.0001	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM NAVAJO NEUROHEPATOPATHY
chr2	27389402	27389403	MPV17	ARG	TRP	50	137960.0003	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
chr2	27398818	27398819	MPV17	GLY	TRP	24	137960.0006	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
chr2	27440877	27440878	EIF2B4	TYR	HIS	489	606687.0006	OVARIOLEUKODYSTROPHY
chr2	27440949	27440950	EIF2B4	CYS	ARG	465	606687.0005	OVARIOLEUKODYSTROPHY
chr2	27443200	27443201	EIF2B4	ARG	CYS	374	606687.0002	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr2	27443250	27443251	EIF2B4	ARG	GLN	357	606687.0001	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr2	27443250	27443251	EIF2B4	ARG	CYS	374	606687.0002	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr2	27444417	27444418	EIF2B4	ALA	VAL	228	606687.0004	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr2	29286167	29286168	ALK	ARG	GLN	1275	105590.0001	NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
chr2	29297145	29297146	ALK	ARG	PRO	1192	105590.0003	NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
chr2	29298776	29298777	ALK	THR	MET	1151	105590.0004	NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
chr2	29298953	29298954	ALK	GLY	ALA	1128	105590.0002	NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
chr2	31462894	31462895	XDH	ARG	TER	228	607633.0001	XANTHINURIA, TYPE I
chr2	31474087	31474088	XDH	ARG	CYS	149	607633.0003	XANTHINURIA, TYPE I
chr2	31659395	31659396	SRD5A2	TYR	TER	26	607306.0015	MICROPENIS
chr2	38151595	38151596	CYP1B1	ARG	TRP	469	601771.0006	GLAUCOMA 3, PRIMARY CONGENITAL, A
chr2	38151733	38151734	CYP1B1	ASN	TYR	423	601771.0016	GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET GLAUCOMA 3, PRIMARY CONGENITAL, A, INCLUDED
chr2	38151841	38151842	CYP1B1	GLU	LYS	387	601771.0014	GLAUCOMA 3, PRIMARY CONGENITAL, A GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
chr2	38151880	38151881	CYP1B1	ASP	ASN	374	601771.0007	GLAUCOMA 3, PRIMARY CONGENITAL, A
chr2	38151897	38151898	CYP1B1	ARG	HIS	368	601771.0012	GLAUCOMA, EARLY-ONSET, DIGENIC
chr2	38151907	38151908	CYP1B1	GLY	TRP	365	601771.0005	GLAUCOMA, PRIMARY CONGENITAL, A
chr2	38155341	38155342	CYP1B1	GLY	ARG	232	601771.0013	GLAUCOMA 3, PRIMARY CONGENITAL, A GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
chr2	38155794	38155795	CYP1B1	TYR	ASN	81	601771.0017	GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET
chr2	38155853	38155854	CYP1B1	GLY	GLU	61	601771.0003	GLAUCOMA 3, PRIMARY CONGENITAL, A
chr2	38155866	38155869	CYP1B1	TRP	TER	57	601771.0010	PETERS ANOMALY
chr2	38156033	38156034	CYP1B1	MET	THR	1	601771.0009	PETERS ANOMALY
chr2	39103416	39103417	SOS1	ARG	SER	552	182530.0005	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME
chr2	39103418	39103419	SOS1	ARG	GLY	552	182530.0004	NOONAN SYNDROME 4
chr2	39131846	39131847	SOS1	MET	ARG	269	182530.0003	NOONAN SYNDROME 4
chr2	39131855	39131856	SOS1	THR	LYS	266	182530.0002	NOONAN SYNDROME 4
chr2	43904623	43904624	ABCG5	ARG	HIS	419	605459.0003	SITOSTEROLEMIA
chr2	43904623	43904624	ABCG5	ARG	PRO	419	605459.0004	SITOSTEROLEMIA
chr2	43904657	43904658	ABCG5	ARG	TER	408	605459.0001	SITOSTEROLEMIA
chr2	43904713	43904714	ABCG5	ARG	HIS	389	605459.0005	SITOSTEROLEMIA
chr2	43907071	43907072	ABCG5	ARG	TER	243	605459.0002	SITOSTEROLEMIA
chr2	43918512	43918513	ABCG5	GLU	TER	77	605459.0006	SITOSTEROLEMIA
chr2	43919750	43919751	ABCG8	ASP	HIS	19	605460.0009	GALLBLADDER DISEASE 4
chr2	43933125	43933126	ABCG8	PRO	THR	231	605460.0008	SITOSTEROLEMIA
chr2	43933334	43933335	ABCG8	ARG	GLN	263	605460.0004	SITOSTEROLEMIA
chr2	43952734	43952737	ABCG8	TRP	TER	361	605460.0001	SITOSTEROLEMIA
chr2	43954451	43954452	ABCG8	ARG	TER	412	605460.0006	SITOSTEROLEMIA
chr2	43956019	43956020	ABCG8	GLY	ARG	574	605460.0002	SITOSTEROLEMIA
chr2	43958233	43958234	ABCG8	LEU	ARG	596	605460.0007	SITOSTEROLEMIA
chr2	43958507	43958508	ABCG8	TYR	TER	658	605460.0003	SITOSTEROLEMIA
chr2	44054886	44054887	LRPPRC	ALA	VAL	354	607544.0001	LEIGH SYNDROME, FRENCH-CANADIAN TYPE
chr2	44361469	44361470	SLC3A1	ARG	GLN	181	104614.0004	CYSTINURIA
chr2	44381718	44381719	SLC3A1	ARG	HIS	362	104614.0008	CYSTINURIA
chr2	44393295	44393296	SLC3A1	MET	THR	467	104614.0001	CYSTINURIA
chr2	44393295	44393296	SLC3A1	MET	LYS	467	104614.0002	CYSTINURIA
chr2	44401066	44401067	SLC3A1	PRO	THR	615	104614.0006	CYSTINURIA
chr2	44401178	44401179	SLC3A1	THR	ARG	652	104614.0005	CYSTINURIA
chr2	44401256	44401257	SLC3A1	LEU	PRO	678	104614.0003	CYSTINURIA
chr2	45022952	45022953	SIX3	GLY	ASP	69	603714.0006	HOLOPROSENCEPHALY 2
chr2	45023085	45023086	SIX3	TRP	CYS	113	603714.0007	HOLOPROSENCEPHALY 2
chr2	45023422	45023423	SIX3	LEU	VAL	226	603714.0001	HOLOPROSENCEPHALY 2
chr2	45023495	45023496	SIX3	VAL	ALA	250	603714.0003	HOLOPROSENCEPHALY 2
chr2	45023516	45023517	SIX3	ARG	PRO	257	603714.0002	HOLOPROSENCEPHALY 2
chr2	46460917	46460918	EPAS1	MET	VAL	535	603349.0003	ERYTHROCYTOSIS, FAMILIAL, 4
chr2	46460923	46460924	EPAS1	GLY	TRP	537	603349.0001	ERYTHROCYTOSIS, FAMILIAL, 4
chr2	46460923	46460924	EPAS1	GLY	ARG	537	603349.0002	ERYTHROCYTOSIS, FAMILIAL, 4
chr2	46986139	46986140	MCFD2	ILE	THR	136	607788.0007	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
chr2	46986149	46986150	MCFD2	ASP	TYR	81	607788.0008	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
chr2	46986159	46986160	MCFD2	ASP	GLU	129	607788.0006	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
chr2	46988520	46988521	MCFD2	ASP	TYR	81	607788.0008	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
chr2	47454462	47454463	EPCAM	CYS	TYR	66	185535.0003	DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
chr2	47496960	47496961	MSH2	GLY	ASP	322	609309.0010	MSH2 POLYMORPHISM
chr2	47510523	47510524	MSH2	ARG	TER	406	609309.0003	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
chr2	47547360	47547361	MSH2	ARG	PRO	524	609309.0007	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
chr2	47555708	47555709	MSH2	GLN	TER	601	609309.0006	MUIR-TORRE SYNDROME
chr2	47555772	47555773	MSH2	PRO	LEU	622	609309.0001	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
chr2	47555813	47555814	MSH2	ALA	PRO	636	609309.0012	COLORECTAL CANCER, HEREDITARY, NONPOLYPOSIS, TYPE 1
chr2	47555822	47555823	MSH2	HIS	TYR	639	609309.0004	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
chr2	47881258	47881259	MSH6	VAL	ALA	878	600678.0006	COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
chr2	48768565	48768566	LHCGR	ILE	LYS	625	152790.0016	LEYDIG CELL HYPOPLASIA, TYPE II
chr2	48768592	48768593	LHCGR	SER	TYR	616	152790.0009	LEYDIG HYPOPLASIA, TYPE I
chr2	48768662	48768663	LHCGR	ALA	PRO	593	152790.0004	LEYDIG CELL HYPOPLASIA, TYPE I LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
chr2	48768706	48768707	LHCGR	ASP	GLY	578	152790.0001	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48768706	48768707	LHCGR	ASP	GLY	578	152790.0011	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48768707	48768708	LHCGR	ASP	HIS	578	152790.0019	LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY
chr2	48768709	48768710	LHCGR	THR	ILE	577	152790.0005	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48768724	48768725	LHCGR	ALA	VAL	572	152790.0006	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48768736	48768737	LHCGR	ALA	VAL	568	152790.0023	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48768748	48768749	LHCGR	ASP	GLY	564	152790.0029	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48768779	48768780	LHCGR	ARG	TER	554	152790.0008	LEYDIG CELL HYPOPLASIA, TYPE I LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
chr2	48768804	48768805	LHCGR	CYS	TER	545	152790.0007	LEYDIG CELL HYPOPLASIA, TYPE I
chr2	48768812	48768813	LHCGR	CYS	ARG	543	152790.0026	LEYDIG CELL HYPOPLASIA, TYPE I
chr2	48768815	48768816	LHCGR	ILE	LEU	542	152790.0018	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48768934	48768935	LHCGR	LEU	PRO	502	152790.0027	LEYDIG CELL HYPOPLASIA, TYPE I
chr2	48769069	48769070	LHCGR	LEU	ARG	457	152790.0024	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48769246	48769247	LHCGR	MET	THR	398	152790.0010	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48769321	48769322	LHCGR	ALA	VAL	373	152790.0013	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48769336	48769337	LHCGR	LEU	PRO	368	152790.0022	PRECOCIOUS PUBERTY, MALE-LIMITED
chr2	48769379	48769380	LHCGR	GLU	LYS	354	152790.0014	LEYDIG CELL HYPOPLASIA, TYPE I LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
chr2	48769412	48769415	LHCGR	CYS	SER	343	152790.0025	LEYDIG CELL HYPOPLASIA, TYPE I
chr2	48804292	48804293	LHCGR	VAL	PHE	144	152790.0028	LEYDIG CELL HYPOPLASIA, TYPE I
chr2	49043746	49043747	FSHR	ARG	CYS	573	136435.0004	OVARIAN DYSGENESIS 1
chr2	49043764	49043765	FSHR	ASP	ASN	567	136435.0009	OVARIAN HYPERSTIMULATION SYNDROME
chr2	49043829	49043830	FSHR	ILE	THR	545	136435.0012	OVARIAN HYPERSTIMULATION SYNDROME
chr2	49043908	49043909	FSHR	PRO	THR	519	136435.0010	OVARIAN DYSGENESIS 1
chr2	49044117	49044118	FSHR	THR	ILE	449	136435.0008	OVARIAN HYPERSTIMULATION SYNDROME
chr2	49044118	49044119	FSHR	THR	ALA	449	136435.0011	OVARIAN HYPERSTIMULATION SYNDROME
chr2	49063767	49063768	FSHR	ALA	VAL	189	136435.0001	OVARIAN DYSGENESIS 1
chr2	49069664	49069665	FSHR	ILE	THR	160	136435.0003	OVARIAN DYSGENESIS 1
chr2	49071271	49071272	FSHR	SER	TYR	128	136435.0013	OVARIAN HYPERSTIMULATION SYNDROME
chr2	50576680	50576681	NRXN1	SER	TER	979	600565.0002	PITT-HOPKINS-LIKE SYNDROME 2
chr2	55951729	55951730	EFEMP1	ARG	TRP	345	601548.0001	MALATTIA LEVENTINESE DOYNE HONEYCOMB RETINAL DYSTROPHY, INCLUDED
chr2	61112664	61112667	PEX13	TRP	TER	234	601789.0001	ZELLWEGER SYNDROME
chr2	61129173	61129174	PEX13	ILE	THR	326	601789.0002	NEONATAL ADRENOLEUKODYSTROPHY
chr2	69232828	69232829	ANTXR1	ALA	THR	326	606410.0001	HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO
chr2	71016682	71016683	ATP6V1B1	ARG	TER	31	192132.0001	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
chr2	71038740	71038741	ATP6V1B1	GLY	ARG	78	192132.0005	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
chr2	71038750	71038751	ATP6V1B1	LEU	PRO	81	192132.0004	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
chr2	71205082	71205083	MCEE	ARG	TER	47	608419.0001	METHYLMALONYL-CoA EPIMERASE DEFICIENCY
chr2	71597665	71597666	DYSF	GLY	ARG	299	603009.0017	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
chr2	71597665	71597666	DYSF	GLY	TRP	299	603009.0018	MIYOSHI MYOPATHY
chr2	71631710	71631711	DYSF	GLY	ARG	519	603009.0015	MIYOSHI MYOPATHY
chr2	71633708	71633709	DYSF	GLN	TER	605	603009.0001	MIYOSHI MYOPATHY
chr2	71633717	71633718	DYSF	ASP	TYR	625	603009.0013	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
chr2	71633768	71633769	DYSF	ASP	TYR	625	603009.0013	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
chr2	71644711	71644712	DYSF	PRO	ARG	791	603009.0007	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B MIYOSHI MYOPATHY, INCLUDED
chr2	71644711	71644712	DYSF	VAL	ASP	67	603009.0009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
chr2	71650937	71650938	DYSF	TRP	CYS	999	603009.0010	MIYOSHI MYOPATHY
chr2	71651240	71651241	DYSF	TRP	CYS	999	603009.0010	MIYOSHI MYOPATHY
chr2	71651341	71651342	DYSF	ARG	HIS	1046	603009.0011	MIYOSHI MYOPATHY
chr2	71683431	71683432	DYSF	ILE	VAL	1298	603009.0003	MIYOSHI MYOPATHY MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
chr2	71745921	71745922	DYSF	GLU	GLY	1734	603009.0014	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
chr2	71745942	71745943	DYSF	GLU	GLY	1734	603009.0014	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
chr2	71748052	71748053	DYSF	GLU	GLY	1734	603009.0014	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
chr2	71748055	71748056	DYSF	GLU	GLY	1734	603009.0014	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
chr2	71754879	71754880	DYSF	ARG	TER	1905	603009.0012	MIYOSHI MYOPATHY MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, INCLUDED
chr2	71754879	71754880	DYSF	ARG	TER	1905	603009.0012	 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
chr2	71763168	71763169	DYSF	ARG	CYS	2042	603009.0004	MIYOSHI MYOPATHY MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
chr2	71763234	71763235	DYSF	ARG	CYS	2042	603009.0004	MIYOSHI MYOPATHY MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, INCLUDED
chr2	72969000	72969001	SPR	GLN	TER	119	182125.0001	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
chr2	72969093	72969094	SPR	ARG	GLY	150	182125.0003	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
chr2	72969133	72969134	SPR	PRO	LEU	163	182125.0005	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
chr2	72972138	72972139	SPR	LYS	TER	251	182125.0006	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
chr2	74027410	74027411	DGUOK	ARG	TER	105	601465.0002	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM
chr2	74027522	74027523	DGUOK	ARG	LYS	142	601465.0005	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM
chr2	74037846	74037847	DGUOK	GLU	LYS	227	601465.0006	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM
chr2	74038835	74038836	DGUOK	ASP	TYR	255	601465.0007	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM CYSTATHIONINURIA, INCLUDED
chr2	74442224	74442225	DCTN1	THR	ILE	1249	601143.0002	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
chr2	74443971	74443972	DCTN1	ARG	LYS	1101	601143.0005	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
chr2	74447530	74447531	DCTN1	ARG	TRP	785	601143.0004	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
chr2	74449504	74449505	DCTN1	MET	THR	571	601143.0003	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
chr2	74452203	74452204	DCTN1	GLY	ARG	71	601143.0006	PERRY SYNDROME
chr2	74458692	74458693	DCTN1	GLN	PRO	74	601143.0007	PERRY SYNDROME
chr2	74458702	74458703	DCTN1	GLY	ARG	71	601143.0006	PERRY SYNDROME
chr2	74458738	74458739	DCTN1	GLY	SER	59	601143.0001	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
chr2	74611061	74611062	HTRA2	ALA	SER	141	606441.0002	PARKINSON DISEASE, SUSCEPTIBILITY TO
chr2	74613332	74613333	HTRA2	GLY	SER	399	606441.0001	PARKINSON DISEASE 13
chr2	85632181	85632182	GGCX	GLY	ARG	558	137167.0006	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
chr2	85632552	85632553	GGCX	TRP	SER	501	137167.0002	VITAMIN K-DEPENDENT COAGULATION DEFECT
chr2	85632576	85632577	GGCX	TRP	SER	493	137167.0007	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
chr2	85632600	85632601	GGCX	ARG	PRO	485	137167.0003	VITAMIN K-DEPENDENT COAGULATION DEFECT
chr2	85633061	85633062	GGCX	ARG	HIS	476	137167.0011	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
chr2	85633062	85633063	GGCX	ARG	CYS	476	137167.0010	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
chr2	85633136	85633137	GGCX	LEU	ARG	394	137167.0001	VITAMIN K-DEPENDENT COAGULATION DEFECT
chr2	85633678	85633679	GGCX	LEU	ARG	394	137167.0001	VITAMIN K-DEPENDENT COAGULATION DEFECT
chr2	85633900	85633901	GGCX	GLN	TER	374	137167.0008	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
chr2	85633900	85633901	GGCX	GLY	TYR	537	137167.0009	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
chr2	85634121	85634122	GGCX	SER	PHE	300	137167.0013	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
chr2	85634124	85634125	GGCX	PHE	SER	299	137167.0005	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
chr2	85634902	85634903	GGCX	VAL	MET	255	137167.0012	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
chr2	86332670	86332671	REEP1	ARG	TER	113	609139.0005	SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
chr2	86362849	86362850	REEP1	ALA	GLU	20	609139.0004	SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
chr2	96317432	96317433	SNRNP200	SER	LEU	1087	601664.0001	RETINITIS PIGMENTOSA 33
chr2	96791061	96791062	CNNM4	SER	TYR	200	607805.0005	JALILI SYNDROME
chr2	96791169	96791170	CNNM4	ARG	GLN	236	607805.0002	JALILI SYNDROME
chr2	96791433	96791434	CNNM4	LEU	PRO	324	607805.0003	JALILI SYNDROME
chr2	96828528	96828529	CNNM4	GLN	TER	564	607805.0004	JALILI SYNDROME
chr2	96838801	96838802	CNNM4	GLN	TER	717	607805.0006	JALILI SYNDROME
chr2	97720471	97720472	ZAP70	ARG	HIS	465	176947.0005	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO SCID DUE TO ZAP70 DEFICIENCY
chr2	97720720	97720723	ZAP70	SER	ARG	518	176947.0003	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO SCID DUE TO ZAP70 DEFICIENCY
chr2	98372590	98372591	CNGA3	PRO	LEU	163	600053.0001	ROD MONOCHROMACY
chr2	98378893	98378894	CNGA3	ARG	CYS	277	600053.0009	ROD MONOCHROMACY
chr2	98378911	98378912	CNGA3	ARG	TRP	283	600053.0002	ROD MONOCHROMACY
chr2	98378912	98378913	CNGA3	ARG	GLN	283	600053.0003	ROD MONOCHROMACY
chr2	98378936	98378937	CNGA3	THR	ARG	291	600053.0005	ROD MONOCHROMACY
chr2	98379370	98379371	CNGA3	ARG	TRP	436	600053.0010	ROD MONOCHROMACY
chr2	98379649	98379650	CNGA3	VAL	MET	529	600053.0008	ROD MONOCHROMACY
chr2	98379703	98379706	CNGA3	PHE	LEU	547	600053.0006	ROD MONOCHROMACY
chr2	98379733	98379734	CNGA3	GLY	ARG	557	600053.0004	ROD MONOCHROMACY
chr2	108734880	108734881	RANBP2	THR	MET	585	601181.0001	ENCEPHALOPATHY, ACUTE NECROTIZING 1, SUSCEPTIBILITY TO
chr2	108736353	108736354	RANBP2	THR	ILE	653	601181.0002	ENCEPHALOPATHY, ACUTE NECROTIZING 1, SUSCEPTIBILITY TO
chr2	108736361	108736362	RANBP2	ILE	VAL	656	601181.0003	ENCEPHALOPATHY, ACUTE NECROTIZING 1, SUSCEPTIBILITY TO
chr2	108879882	108879883	EDAR	ARG	GLN	420	604095.0006	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT
chr2	108880017	108880018	EDAR	ARG	HIS	375	604095.0008	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE
chr2	108880032	108880033	EDAR	VAL	ALA	370	604095.0011	HAIR MORPHOLOGY 1, HAIR THICKNESS
chr2	108880069	108880070	EDAR	ARG	TER	358	604095.0005	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT
chr2	108880081	108880082	EDAR	GLU	TER	354	604095.0010	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT
chr2	108912112	108912113	EDAR	ASP	ALA	110	604095.0009	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE
chr2	108912175	108912176	EDAR	ARG	HIS	89	604095.0002	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT, INCLUDED
chr2	108912182	108912183	EDAR	CYS	ARG	87	604095.0004	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE
chr2	110277913	110277914	NPHP1	GLY	ARG	343	607100.0004	NEPHRONOPHTHISIS 1
chr2	110316349	110316350	NPHP1	LEU	TER	27	607100.0003	NEPHRONOPHTHISIS 1
chr2	111132500	111132501	BUB1	SER	TYR	492	602452.0002	COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY
chr2	112482513	112482514	MERTK	ARG	TER	651	604705.0003	RETINITIS PIGMENTOSA 38
chr2	113603666	113603667	IL1RN	GLN	TER	54	147679.0003	INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
chr2	113605115	113605116	IL1RN	GLU	TER	77	147679.0002	INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
chr2	113709543	113709546	PAX8	PHE	LEU	329	167415.0001	PAX8 POLYMORPHISM
chr2	113718540	113718541	PAX8	ARG	TER	108	167415.0002	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
chr2	113720806	113720807	PAX8	LEU	ARG	62	167415.0004	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
chr2	113720821	113720822	PAX8	CYS	TYR	57	167415.0005	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
chr2	113720831	113720832	PAX8	SER	GLY	54	167415.0006	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
chr2	113720848	113720849	PAX8	SER	PHE	48	167415.0008	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
chr2	113720872	113720873	PAX8	GLN	PRO	40	167415.0007	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
chr2	113720899	113720900	PAX8	ARG	HIS	31	167415.0003	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
chr2	127522630	127522631	BIN1	LYS	TER	575	601248.0003	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
chr2	127543037	127543038	BIN1	ASP	ASN	151	601248.0002	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
chr2	127550731	127550732	BIN1	LYS	ASN	35	601248.0001	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
chr2	127753315	127753316	ERCC3	GLN	TER	545	133510.0007	XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME
chr2	127760817	127760818	ERCC3	ARG	TER	425	133510.0004	XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME
chr2	127766771	127766772	ERCC3	THR	PRO	119	133510.0003	TRICHOTHIODYSTROPHY
chr2	127766830	127766831	ERCC3	PHE	SER	99	133510.0002	XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME
chr2	130996918	130996919	CFC1	ARG	CYS	112	605194.0001	HETEROTAXY, VISCERAL, 2, AUTOSOMAL
chr2	131071938	131071939	CFC1	ARG	CYS	112	605194.0001	HETEROTAXY, VISCERAL, 2, AUTOSOMAL
chr2	135609780	135609783	RAB3GAP1	TRP	TER	578	602536.0005	WARBURG MICRO SYNDROME
chr2	135624495	135624496	RAB3GAP1	ARG	TER	671	602536.0004	WARBURG MICRO SYNDROME
chr2	136281170	136281171	LCT	TYR	TER	1390	603202.0001	LACTASE DEFICIENCY, CONGENITAL
chr2	136303632	136303633	LCT	GLN	HIS	268	603202.0003	LACTASE DEFICIENCY, CONGENITAL
chr2	136588940	136588941	CXCR4	GLU	TER	343	162643.0003	WHIM SYNDROME
chr2	136588954	136588955	CXCR4	SER	TER	338	162643.0004	WHIM SYNDROME
chr2	136588967	136588968	CXCR4	ARG	TER	334	162643.0001	WHIM SYNDROME MYELOKATHEXIS, ISOLATED, INCLUDED
chr2	138476118	138476119	HNMT	THR	ILE	105	605238.0001	ASTHMA, SUSCEPTIBILITY TO
chr2	144863776	144863777	ZEB2	GLN	ARG	1119	605802.0015	MOWAT-WILSON SYNDROME
chr2	144872668	144872669	ZEB2	SER	TER	852	605802.0009	MOWAT-WILSON SYNDROME
chr2	144873140	144873141	ZEB2	ARG	TER	695	605802.0002	MOWAT-WILSON SYNDROME
chr2	144873578	144873579	ZEB2	ARG	TER	549	605802.0001	MOWAT-WILSON SYNDROME
chr2	152403997	152403998	CACNB4	ARG	TER	482	601949.0001	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
chr2	152445638	152445639	CACNB4	CYS	PHE	104	601949.0002	EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9 EPISODIC ATAXIA, TYPE 5, INCLUDED
chr2	157143866	157143867	GPD2	PHE	SER	635	138430.0001	DIABETES MELLITUS, TYPE II
chr2	158330677	158330678	ACVR1	GLY	ASP	356	102576.0002	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
chr2	158335141	158335142	ACVR1	ARG	SER	258	102576.0003	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
chr2	158338871	158338872	ACVR1	ARG	HIS	206	102576.0001	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
chr2	165873506	165873507	SCN2A	ARG	TRP	188	182390.0001	FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES
chr2	165874169	165874170	SCN2A	ARG	GLN	223	182390.0005	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
chr2	165909421	165909422	SCN2A	VAL	ILE	892	182390.0004	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
chr2	165909421	165909422	SCN2A	ARG	GLN	223	182390.0005	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
chr2	165919034	165919035	SCN2A	LEU	ILE	1003	182390.0007	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
chr2	165938086	165938087	SCN2A	ARG	GLN	1319	182390.0006	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
chr2	165939455	165939456	SCN2A	LEU	PHE	1330	182390.0002	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
chr2	165951636	165951637	SCN2A	LEU	VAL	1563	182390.0003	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
chr2	166314502	166314503	GALNT3	GLN	TER	592	601756.0005	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
chr2	166319770	166319771	GALNT3	GLN	TER	481	601756.0007	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
chr2	166323617	166323618	GALNT3	THR	LYS	359	601756.0009	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
chr2	166324198	166324199	GALNT3	TYR	TER	322	601756.0006	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
chr2	166326683	166326684	GALNT3	THR	LYS	272	601756.0008	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
chr2	166334972	166334973	GALNT3	ARG	TER	162	601756.0002	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
chr2	166556904	166556905	SCN1A	THR	ILE	1709	182389.0013	EPILEPSY, INTRACTABLE CHILDHOOD, WITH GENERALIZED TONIC-CLONIC SEIZURES GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, INCLUDED
chr2	166557062	166557063	SCN1A	ILE	MET	1656	182389.0005	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
chr2	166557087	166557088	SCN1A	ARG	HIS	1648	182389.0001	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
chr2	166558922	166558923	SCN1A	VAL	PHE	1611	182389.0014	EPILEPSY, INTRACTABLE CHILDHOOD, WITH GENERALIZED TONIC-CLONIC SEIZURES GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, INCLUDED
chr2	166560854	166560857	SCN1A	PHE	LEU	1499	182389.0021	MIGRAINE, FAMILIAL HEMIPLEGIC, 3
chr2	166562802	166562803	SCN1A	GLN	HIS	1489	182389.0022	MIGRAINE, FAMILIAL HEMIPLEGIC, 3
chr2	166562804	166562805	SCN1A	GLN	LYS	1489	182389.0012	MIGRAINE, FAMILIAL HEMIPLEGIC, 3
chr2	166567228	166567229	SCN1A	VAL	ALA	1428	182389.0011	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
chr2	166567454	166567455	SCN1A	VAL	LEU	1353	182389.0004	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
chr2	166576934	166576935	SCN1A	LYS	THR	1270	182389.0010	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
chr2	166578594	166578595	SCN1A	TRP	ARG	1204	182389.0006	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
chr2	166601276	166601277	SCN1A	LEU	PHE	986	182389.0009	MYOCLONIC EPILEPSY, SEVERE, OF INFANCY
chr2	166602853	166602854	SCN1A	THR	MET	875	182389.0002	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
chr2	166617637	166617638	SCN1A	ARG	TER	222	182389.0008	MYOCLONIC EPILEPSY, SEVERE, OF INFANCY
chr2	166619432	166619433	SCN1A	ASP	VAL	188	182389.0003	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
chr2	166621205	166621206	SCN1A	MET	THR	145	182389.0015	FEBRILE CONVULSIONS, FAMILIAL, 3A
chr2	166769194	166769195	SCN9A	THR	ILE	1464	603415.0013	PAROXYSMAL EXTREME PAIN DISORDER
chr2	166769203	166769204	SCN9A	ILE	THR	1461	603415.0012	PAROXYSMAL EXTREME PAIN DISORDER
chr2	166791342	166791343	SCN9A	PHE	VAL	1449	603415.0004	ERYTHERMALGIA, PRIMARY
chr2	166793724	166793725	SCN9A	VAL	PHE	1299	603415.0011	PAROXYSMAL EXTREME PAIN DISORDER
chr2	166793726	166793727	SCN9A	VAL	ASP	1298	603415.0009	PAROXYSMAL EXTREME PAIN DISORDER
chr2	166793727	166793728	SCN9A	VAL	PHE	1298	603415.0010	PAROXYSMAL EXTREME PAIN DISORDER
chr2	166837486	166837487	SCN9A	ARG	CYS	996	603415.0008	PAROXYSMAL EXTREME PAIN DISORDER
chr2	166841890	166841893	SCN9A	TRP	TER	897	603415.0007	INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
chr2	166842006	166842007	SCN9A	LEU	HIS	858	603415.0001	ERYTHERMALGIA, PRIMARY
chr2	166842007	166842008	SCN9A	LEU	PHE	858	603415.0016	ERYTHERMALGIA, PRIMARY
chr2	166842036	166842037	SCN9A	ILE	THR	848	603415.0002	ERYTHERMALGIA, PRIMARY
chr2	166846541	166846542	SCN9A	LYS	ARG	655	603415.0019	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7 MYOCLONIC EPILEPSY, SEVERE, OF INFANCY, INCLUDED
chr2	166849261	166849262	SCN9A	ASN	TYR	641	603415.0018	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7
chr2	166851317	166851318	SCN9A	SER	TER	459	603415.0005	INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
chr2	166858109	166858110	SCN9A	TYR	TER	328	603415.0015	INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
chr2	166867917	166867918	SCN9A	ARG	TER	277	603415.0014	INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
chr2	166868025	166868026	SCN9A	SER	THR	241	603415.0003	ERYTHERMALGIA, PRIMARY
chr2	166869034	166869035	SCN9A	PHE	SER	216	603415.0017	ERYTHERMALGIA, PRIMARY
chr2	166871286	166871287	SCN9A	PRO	GLN	149	603415.0021	FEBRILE CONVULSIONS, FAMILIAL, 3B
chr2	166876328	166876329	SCN9A	ILE	VAL	62	603415.0020	FEBRILE CONVULSIONS, FAMILIAL, 3B
chr2	169497176	169497177	ABCB11	ARG	TER	1057	603201.0007	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
chr2	169534886	169534887	ABCB11	ARG	TER	575	603201.0001	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
chr2	169541345	169541346	ABCB11	ARG	THR	432	603201.0006	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2
chr2	169555574	169555575	ABCB11	GLU	GLY	297	603201.0002	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2, INCLUDED
chr2	169742756	169742757	LRP2	ARG	TER	3399	600073.0006	DONNAI-BARROW SYNDROME
chr2	169770385	169770386	LRP2	TYR	HIS	2522	600073.0001	DONNAI-BARROW SYNDROME
chr2	169847706	169847707	LRP2	ARG	TER	365	600073.0008	DONNAI-BARROW SYNDROME
chr2	170051856	170051859	BBS5	TRP	TER	59	603650.0004	BARDET-BIEDL SYNDROME 5
chr2	170052566	170052567	BBS5	GLY	SER	72	603650.0005	BARDET-BIEDL SYNDROME 5
chr2	170057667	170057668	BBS5	LEU	TER	142	603650.0002	BARDET-BIEDL SYNDROME 5
chr2	170058520	170058521	BBS5	THR	ALA	183	603650.0006	BARDET-BIEDL SYNDROME 5
chr2	171383381	171383382	GAD1	SER	CYS	12	605363.0001	CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE
chr2	172352392	172352393	SLC25A12	GLN	ARG	590	603667.0001	HYPOMYELINATION, GLOBAL CEREBRAL
chr2	175326568	175326569	CHRNA1	ARG	LEU	254	100690.0013	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
chr2	175384511	175384512	CHN1	GLU	LYS	313	118423.0007	DUANE RETRACTION SYNDROME 2
chr2	175385413	175385414	CHN1	PRO	GLN	252	118423.0006	DUANE RETRACTION SYNDROME 2
chr2	175397437	175397438	CHN1	GLY	SER	228	118423.0005	DUANE RETRACTION SYNDROME 2
chr2	175397451	175397452	CHN1	ALA	VAL	223	118423.0004	DUANE RETRACTION SYNDROME 2
chr2	175450935	175450936	CHN1	TYR	HIS	143	118423.0003	DUANE RETRACTION SYNDROME 2
chr2	175450984	175450985	CHN1	ILE	MET	126	118423.0002	DUANE RETRACTION SYNDROME 2
chr2	175525135	175525136	CHN1	LEU	PHE	20	118423.0001	DUANE RETRACTION SYNDROME 2
chr2	176692137	176692138	HOXD10	MET	LYS	319	142984.0001	VERTICAL TALUS, CONGENITAL CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, INCLUDED
chr2	176724848	176724849	HOXD4	GLU	VAL	81	142981.0001	LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO
chr2	178034921	178034922	AGPS	THR	ILE	309	603051.0002	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3
chr2	178066143	178066144	AGPS	ARG	HIS	419	603051.0001	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3
chr2	178072634	178072635	AGPS	LEU	PRO	469	603051.0003	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3
chr2	178587426	178587427	PDE11A	ARG	TER	307	604961.0001	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
chr2	179009236	179009237	PRKRA	PRO	LEU	222	603424.0001	DYSTONIA 16
chr2	179026542	179026543	DFNB59	THR	ILE	54	610219.0002	DEAFNESS, AUTOSOMAL RECESSIVE 59
chr2	179029073	179029074	DFNB59	ARG	TER	167	610219.0004	DEAFNESS, AUTOSOMAL RECESSIVE 59
chr2	179029121	179029122	DFNB59	ARG	TRP	183	610219.0001	DEAFNESS, AUTOSOMAL RECESSIVE 59
chr2	179355951	179355952	TTN	TRP	ARG	930	188840.0003	CARDIOMYOPATHY, DILATED, 1G
chr2	179358961	179358962	TTN	ALA	VAL	743	188840.0007	CARDIOMYOPATHY, DILATED, 1G
chr2	179358970	179358971	TTN	ARG	LEU	740	188840.0001	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
chr2	179372537	179372538	TTN	ARG	TRP	279	188840.0011	HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE
chr2	179375244	179375245	TTN	VAL	MET	54	188840.0008	CARDIOMYOPATHY, DILATED, 1G
chr2	182131588	182131589	CERKL	ARG	TER	257	608381.0001	RETINITIS PIGMENTOSA 26
chr2	182251500	182251501	NEUROD1	ARG	LEU	111	601724.0001	DIABETES MELLITUS, TYPE II
chr2	183407828	183407829	FRZB	ARG	GLY	324	605083.0001	OSTEOARTHRITIS SUSCEPTIBILITY 1
chr2	183411580	183411581	FRZB	ARG	TRP	200	605083.0002	OSTEOARTHRITIS SUSCEPTIBILITY 1
chr2	189558689	189558690	COL3A1	GLY	ARG	130	120180.0031	EHLERS-DANLOS SYNDROME, TYPE IV
chr2	189558707	189558708	COL3A1	GLY	ARG	136	120180.0018	EHLERS-DANLOS SYNDROME, TYPE IV
chr2	189558707	189558708	COL3A1	GLY	ASP	82	120180.0028	EHLERS-DANLOS SYNDROME, TYPE IV
chr2	190136988	190136989	SLC40A1	GLY	VAL	323	604653.0006	HEMOCHROMATOSIS, TYPE 4
chr2	190137156	190137157	SLC40A1	GLY	ASP	267	604653.0009	HEMOCHROMATOSIS, TYPE 4
chr2	190138538	190138539	SLC40A1	GLN	HIS	182	604653.0005	HEMOCHROMATOSIS, TYPE 4
chr2	190138542	190138543	SLC40A1	ASP	VAL	181	604653.0007	HEMOCHROMATOSIS, TYPE 4
chr2	190144729	190144730	SLC40A1	ASP	GLY	157	604653.0004	HEMOCHROMATOSIS, TYPE 4
chr2	190144769	190144770	SLC40A1	ASN	HIS	144	604653.0001	HEMOCHROMATOSIS, TYPE 4
chr2	190148163	190148164	SLC40A1	GLY	VAL	80	604653.0008	HEMOCHROMATOSIS, TYPE 4
chr2	190148172	190148173	SLC40A1	ALA	ASP	77	604653.0002	HEMOCHROMATOSIS, TYPE 4
chr2	190417048	190417049	PMS1	GLN	TER	233	600258.0001	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 3
chr2	190863395	190863396	HIBCH	TYR	CYS	122	610690.0002	3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY
chr2	191548800	191548801	STAT1	LEU	SER	706	600555.0001	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
chr2	191551900	191551901	STAT1	LEU	PRO	600	600555.0003	STAT1 DEFICIENCY, COMPLETE
chr2	191556669	191556670	STAT1	GLN	HIS	463	600555.0004	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
chr2	191564277	191564278	STAT1	GLU	GLN	320	600555.0005	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
chr2	198071731	198071732	HSPD1	ASP	GLY	29	118190.0002	LEUKODYSTROPHY, HYPOMYELINATING, 4
chr2	199922126	199922127	SATB2	ARG	TER	239	608148.0001	CLEFT PALATE, ISOLATED, AND MENTAL RETARDATION
chr2	201760765	201760766	CASP10	MET	THR	147	601762.0006	GASTRIC CANCER, SOMATIC
chr2	201778896	201778897	CASP10	GLN	TER	257	601762.0004	NON-HODGKIN LYMPHOMA, SOMATIC GASTRIC CANCER, SOMATIC, INCLUDED
chr2	201781081	201781082	CASP10	LEU	PHE	285	601762.0001	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
chr2	201782330	201782331	CASP10	ILE	LEU	406	601762.0007	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
chr2	201782355	201782356	CASP10	ALA	VAL	414	601762.0003	NON-HODGKIN LYMPHOMA, SOMATIC
chr2	201849875	201849876	CASP8	ARG	TRP	248	601763.0001	CASPASE 8 DEFICIENCY
chr2	201857833	201857834	CASP8	ASP	HIS	302	601763.0003	BREAST CANCER, PROTECTION AGAINST
chr2	202299821	202299822	ALS2	ARG	TER	998	606352.0010	SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
chr2	202317252	202317253	ALS2	GLN	TER	715	606352.0014	SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
chr2	203037819	203037820	BMPR2	TYR	TER	40	600799.0022	PULMONARY VENOOCCLUSIVE DISEASE
chr2	203037917	203037918	BMPR2	SER	TER	73	600799.0003	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203040592	203040593	BMPR2	CYS	TRP	118	600799.0005	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203040605	203040606	BMPR2	CYS	ARG	123	600799.0015	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203040605	203040608	BMPR2	CYS	SER	123	600799.0016	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203086774	203086775	BMPR2	CYS	TER	169	600799.0011	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203087870	203087871	BMPR2	GLY	ASP	182	600799.0020	PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED
chr2	203091798	203091799	BMPR2	ARG	TER	211	600799.0019	PULMONARY HYPERTENSION, PRIMARY, 1 PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED
chr2	203103787	203103788	BMPR2	ARG	TER	332	600799.0017	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203103833	203103834	BMPR2	CYS	TYR	347	600799.0006	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203115298	203115299	BMPR2	GLN	TER	433	600799.0026	PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA
chr2	203125723	203125724	BMPR2	ASP	GLY	485	600799.0007	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203125740	203125741	BMPR2	ARG	TRP	491	600799.0008	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203125741	203125742	BMPR2	ARG	GLN	491	600799.0013	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203129249	203129250	BMPR2	ARG	TER	873	600799.0012	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203129327	203129328	BMPR2	ARG	TER	899	600799.0002	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	203129328	203129329	BMPR2	ARG	PRO	899	600799.0018	PULMONARY HYPERTENSION, PRIMARY, 1
chr2	204440958	204440959	CTLA4	THR	ALA	17	123890.0001	 CELIAC DISEASE, SUSCEPTIBILITY TO, 3, INCLUDED
chr2	204440958	204440959	CTLA4	THR	ALA	17	123890.0001	 DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, INCLUDED
chr2	204440958	204440959	CTLA4	THR	ALA	17	123890.0001	HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO THYROID-ASSOCIATED ORBITOPATHY, SUSCEPTIBILITY TO, INCLUDED
chr2	204440958	204440959	CTLA4	THR	ALA	17	123890.0001	 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, INCLUDED
chr2	206717977	206717978	NDUFS1	ASP	GLY	252	157655.0002	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr2	206719887	206719888	NDUFS1	ARG	TRP	241	157655.0003	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr2	206719917	206719918	NDUFS1	LEU	VAL	231	157655.0004	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr2	208701194	208701195	CRYGC	ARG	TRP	168	123680.0003	CATARACT, CONGENITAL LAMELLAR
chr2	208702648	208702649	CRYGC	THR	PRO	5	123680.0001	CATARACT, COPPOCK-LIKE
chr2	208898741	208898742	PIKFYVE	GLN	TER	988	609414.0002	FLECK CORNEAL DYSTROPHY
chr2	208899087	208899088	PIKFYVE	LYS	ARG	1103	609414.0001	FLECK CORNEAL DYSTROPHY
chr2	211146269	211146270	CPS1	GLN	TER	44	608307.0003	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
chr2	211164861	211164862	CPS1	HIS	ARG	337	608307.0004	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
chr2	211173604	211173605	CPS1	THR	MET	544	608307.0002	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
chr2	211181495	211181496	CPS1	ARG	TER	787	608307.0009	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
chr2	211213013	211213014	CPS1	GLY	ASP	982	608307.0007	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
chr2	215325423	215325426	BARD1	CYS	SER	557	601593.0001	BREAST CANCER, SUSCEPTIBILITY TO
chr2	215551798	215551799	ABCA12	GLY	SER	1651	607800.0003	ICHTHYOSIS, LAMELLAR, 2
chr2	215553576	215553577	ABCA12	GLU	LYS	1539	607800.0005	ICHTHYOSIS, LAMELLAR, 2
chr2	215555193	215555194	ABCA12	ARG	HIS	1514	607800.0004	ICHTHYOSIS, LAMELLAR, 2
chr2	215559531	215559532	ABCA12	GLY	GLU	1381	607800.0001	ICHTHYOSIS, LAMELLAR, 2
chr2	215559534	215559535	ABCA12	ASN	SER	1380	607800.0002	ICHTHYOSIS, LAMELLAR, 2
chr2	215563759	215563760	ABCA12	GLY	ARG	1179	607800.0010	HARLEQUIN ICHTHYOSIS
chr2	215917795	215917796	ATIC	LYS	ARG	426	601731.0001	AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY
chr2	215948652	215948653	FN1	LEU	ARG	1974	135600.0002	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2
chr2	215949579	215949580	FN1	TRP	ARG	1925	135600.0001	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2
chr2	216987720	216987721	SMARCAL1	ARG	TER	17	606622.0002	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
chr2	216987771	216987772	SMARCAL1	GLN	TER	34	606622.0003	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
chr2	217008462	217008463	SMARCAL1	ILE	ASN	548	606622.0004	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
chr2	217020030	217020031	SMARCAL1	ARG	TRP	586	606622.0006	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
chr2	217023894	217023895	SMARCAL1	ARG	CYS	645	606622.0005	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
chr2	217048282	217048283	SMARCAL1	ARG	GLN	764	606622.0008	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
chr2	217051183	217051184	SMARCAL1	GLU	TER	848	606622.0001	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
chr2	218967975	218967976	SLC11A1	ASP	ASN	543	600266.0002	BURULI ULCER, SUSCEPTIBILITY TO
chr2	219234056	219234057	BCS1L	GLY	ARG	35	603647.0010	BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
chr2	219234086	219234087	BCS1L	ARG	CYS	45	603647.0006	MITOCHONDRIAL COMPLEX III DEFICIENCY
chr2	219234101	219234102	BCS1L	THR	ALA	50	603647.0011	MITOCHONDRIAL COMPLEX III DEFICIENCY
chr2	219234119	219234120	BCS1L	ARG	TER	56	603647.0007	MITOCHONDRIAL COMPLEX III DEFICIENCY
chr2	219234185	219234186	BCS1L	SER	GLY	78	603647.0005	GRACILE SYNDROME
chr2	219234249	219234250	BCS1L	PRO	LEU	99	603647.0002	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY
chr2	219234728	219234729	BCS1L	ARG	PRO	155	603647.0003	MITOCHONDRIAL COMPLEX III DEFICIENCY
chr2	219234812	219234813	BCS1L	ARG	HIS	183	603647.0008	BJORNSTAD SYNDROME
chr2	219234814	219234815	BCS1L	ARG	CYS	184	603647.0009	BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
chr2	219235586	219235587	BCS1L	SER	ASN	277	603647.0001	MITOCHONDRIAL COMPLEX III DEFICIENCY
chr2	219236149	219236150	BCS1L	VAL	MET	353	603647.0004	MITOCHONDRIAL COMPLEX III DEFICIENCY
chr2	219386061	219386062	CYP27A1	THR	MET	339	606530.0013	CEREBROTENDINOUS XANTHOMATOSIS
chr2	219387682	219387683	CYP27A1	ARG	GLY	479	606530.0014	CEREBROTENDINOUS XANTHOMATOSIS
chr2	219401527	219401528	PRKAG3	ARG	TRP	225	604976.0001	GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED
chr2	219453985	219453988	WNT10A	TRP	TER	9	606268.0006	ODONTOONYCHODERMAL DYSPLASIA
chr2	219455333	219455334	WNT10A	CYS	TER	107	606268.0002	ODONTOONYCHODERMAL DYSPLASIA SCHOPF-SCHULZ-PASSARGE SYNDROME, INCLUDED
chr2	219462955	219462956	WNT10A	ARG	GLN	128	606268.0004	ODONTOONYCHODERMAL DYSPLASIA
chr2	219463254	219463255	WNT10A	PHE	ILE	228	606268.0003	ODONTOONYCHODERMAL DYSPLASIA
chr2	219463269	219463270	WNT10A	GLU	TER	233	606268.0001	ODONTOONYCHODERMAL DYSPLASIA
chr2	219466110	219466111	WNT10A	CYS	TER	376	606268.0005	ODONTOONYCHODERMAL DYSPLASIA
chr2	219630406	219630407	IHH	VAL	ALA	190	600726.0006	ACROCAPITOFEMORAL DYSPLASIA
chr2	219630514	219630515	IHH	THR	ILE	154	600726.0008	BRACHYDACTYLY, TYPE A1
chr2	219630584	219630585	IHH	GLU	LYS	131	600726.0002	BRACHYDACTYLY, TYPE A1
chr2	219630586	219630587	IHH	THR	ASN	130	600726.0011	BRACHYDACTYLY, TYPE A1
chr2	219630592	219630593	IHH	ARG	GLN	128	600726.0010	BRACHYDACTYLY, TYPE A1
chr2	219633133	219633134	IHH	ASP	GLU	100	600726.0003	BRACHYDACTYLY, TYPE A1
chr2	219633135	219633136	IHH	ASP	ASN	100	600726.0004	BRACHYDACTYLY, TYPE A1
chr2	219633149	219633150	IHH	GLU	GLY	95	600726.0007	BRACHYDACTYLY, TYPE A1
chr2	219633150	219633151	IHH	GLU	LYS	95	600726.0001	BRACHYDACTYLY, TYPE A1
chr2	219633296	219633297	IHH	PRO	LEU	46	600726.0005	ACROCAPITOFEMORAL DYSPLASIA
chr2	219719701	219719702	NHEJ1	ARG	TER	178	611290.0003	SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION
chr2	219730460	219730461	NHEJ1	CYS	ARG	123	611290.0002	SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION
chr2	219731159	219731160	NHEJ1	ARG	GLY	57	611290.0001	SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION
chr2	219993904	219993905	DES	ALA	PRO	337	125660.0001	MYOPATHY, DESMIN-RELATED
chr2	219994315	219994316	DES	LEU	PRO	345	125660.0006	MYOPATHY, DESMIN-RELATED
chr2	219994330	219994331	DES	ARG	PRO	350	125660.0016	SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE
chr2	219994359	219994360	DES	ALA	PRO	360	125660.0002	MYOPATHY, DESMIN-RELATED
chr2	219994435	219994436	DES	LEU	PRO	385	125660.0010	MYOPATHY, DESMIN-RELATED
chr2	219994447	219994448	DES	GLN	PRO	389	125660.0011	MYOPATHY, DESMIN-RELATED
chr2	219994459	219994460	DES	ASN	ILE	393	125660.0003	MYOPATHY, DESMIN-RELATED
chr2	219994497	219994498	DES	ARG	TRP	406	125660.0007	MYOPATHY, DESMIN-RELATED
chr2	219998664	219998665	DES	THR	ILE	442	125660.0015	MYOPATHY, DESMIN-RELATED
chr2	219998692	219998693	DES	ILE	MET	451	125660.0005	CARDIOMYOPATHY, DILATED, 1I
chr2	220140752	220140753	OBSL1	ARG	TER	489	610991.0005	THREE M SYNDROME 2
chr2	220141153	220141154	OBSL1	CYS	TER	383	610991.0002	THREE M SYNDROME 2
chr2	222869993	222869994	PAX3	TYR	HIS	90	606597.0013	WAARDENBURG SYNDROME, TYPE III
chr2	222870010	222870011	PAX3	SER	PHE	84	606597.0009	WAARDENBURG SYNDROME, TYPE III WAARDENBURG SYNDROME, TYPE I, INCLUDED
chr2	222870112	222870113	PAX3	PRO	LEU	50	606597.0002	WAARDENBURG SYNDROME, TYPE I
chr2	222870118	222870119	PAX3	GLY	ALA	48	606597.0006	WAARDENBURG SYNDROME, TYPE II
chr2	222870120	222870121	PAX3	ASN	LYS	47	606597.0010	CRANIOFACIAL-DEAFNESS-HAND SYNDROME
chr2	222870122	222870123	PAX3	ASN	HIS	47	606597.0011	WAARDENBURG SYNDROME, TYPE III
chr2	227369875	227369876	IRS1	THR	ARG	608	147545.0003	DIABETES MELLITUS, TYPE II
chr2	227580434	227580435	COL4A4	CYS	TER	1641	120131.0005	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
chr2	227581071	227581072	COL4A4	PRO	LEU	1572	120131.0006	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
chr2	227581071	227581072	COL3A1	GLY	GLU	847	120180.0014	EHLERS-DANLOS SYNDROME, TYPE IV
chr2	227595094	227595095	COL4A4	ARG	TER	1377	120131.0004	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
chr2	227605008	227605009	COL4A4	SER	TER	1238	120131.0002	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
chr2	227605212	227605213	COL4A4	GLY	SER	1201	120131.0001	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
chr2	227628930	227628931	COL4A4	GLY	GLU	897	120131.0003	HEMATURIA, BENIGN FAMILIAL
chr2	227862181	227862182	COL4A3	GLY	VAL	985	120070.0008	HEMATURIA, BENIGN FAMILIAL
chr2	227863021	227863022	COL4A3	GLY	GLU	1015	120070.0007	HEMATURIA, BENIGN FAMILIAL
chr2	227880857	227880858	COL4A3	ARG	TER	1481	120070.0002	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
chr2	227881966	227881967	COL4A3	SER	TER	1524	120070.0003	ALPORT SYNDROME, AUTOSOMAL RECESSIVE
chr2	228261175	228261176	SLC19A3	THR	ALA	422	606152.0002	BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE
chr2	228271716	228271717	SLC19A3	GLU	GLN	320	606152.0004	ENCEPHALOPATHY, THIAMINE-RESPONSIVE
chr2	228275148	228275149	SLC19A3	LYS	GLU	44	606152.0003	ENCEPHALOPATHY, THIAMINE-RESPONSIVE
chr2	228275210	228275211	SLC19A3	GLY	VAL	23	606152.0001	BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE
chr2	230758958	230758959	SP110	LEU	SER	425	604457.0003	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
chr2	233099554	233099555	CHRND	LEU	PRO	42	100720.0008	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
chr2	233113025	233113026	CHRNG	ARG	TER	46	100730.0006	ESCOBAR SYNDROME
chr2	233113634	233113635	CHRNG	VAL	GLY	107	100730.0005	ESCOBAR SYNDROME MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, INCLUDED
chr2	233320693	233320694	GIGYF2	ASN	SER	56	612003.0001	PARKINSON DISEASE 11
chr2	233341743	233341744	KCNJ13	ARG	TRP	162	603208.0001	SNOWFLAKE VITREORETINAL DEGENERATION
chr2	233363770	233363771	GIGYF2	ILE	VAL	278	612003.0004	PARKINSON DISEASE 11
chr2	233367788	233367789	GIGYF2	ASN	THR	457	612003.0002	PARKINSON DISEASE 11
chr2	233382684	233382685	GIGYF2	ASP	GLU	606	612003.0003	PARKINSON DISEASE 11
chr2	233848106	233848107	ATG16L1	THR	ALA	300	610767.0001	INFLAMMATORY BOWEL DISEASE 10, SUSCEPTIBILITY TO
chr2	234333715	234333716	UGT1A1	LEU	ARG	15	191740.0023	CRIGLER-NAJJAR SYNDROME, TYPE II
chr2	234333882	234333883	UGT1A1	GLY	ARG	71	191740.0016	GILBERT SYNDROME HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL, INCLUDED
chr2	234334195	234334196	UGT1A1	LEU	GLN	175	191740.0021	CRIGLER-NAJJAR SYNDROME, TYPE II
chr2	234334357	234334358	UGT1A1	PRO	GLN	229	191740.0010	GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME, TYPE II, INCLUDED
chr2	234340544	234340545	UGT1A1	GLN	TER	331	191740.0003	CRIGLER-NAJJAR SYNDROME, TYPE I
chr2	234340545	234340546	UGT1A1	GLN	ARG	331	191740.0005	CRIGLER-NAJJAR SYNDROME, TYPE II
chr2	234341257	234341258	UGT1A1	ARG	TER	341	191740.0004	CRIGLER-NAJJAR SYNDROME, TYPE I GILBERT SYNDROME, INCLUDED
chr2	234341306	234341307	UGT1A1	GLN	ARG	357	191740.0019	CRIGLER-NAJJAR SYNDROME, TYPE I
chr2	234341717	234341718	UGT1A1	ASN	ASP	400	191740.0022	CRIGLER-NAJJAR SYNDROME, TYPE II GILBERT SYNDROME, INCLUDED
chr2	234345797	234345798	UGT1A1	TYR	ASP	486	191740.0017	HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME, TYPE II, INCLUDED
chr2	237940391	237940392	COL6A3	LEU	ARG	1726	120250.0006	BETHLEM MYOPATHY
chr2	237940532	237940533	COL6A3	GLY	GLU	1679	120250.0001	BETHLEM MYOPATHY
chr2	237954800	237954801	COL6A3	ARG	TER	465	120250.0003	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
chr2	238066910	238066911	MLPH	ARG	TRP	35	606526.0001	GRISCELLI SYNDROME, TYPE 3
chr2	238830382	238830383	PER2	SER	GLY	662	603426.0001	ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL
chr2	241456986	241456987	AGXT	PRO	LEU	11	604285.0002	HYPEROXALURIA, PRIMARY, TYPE I
chr2	241457075	241457076	AGXT	GLY	ARG	41	604285.0005	HYPEROXALURIA, PRIMARY, TYPE I
chr2	241457291	241457292	AGXT	TYR	TER	66	604285.0003	HYPEROXALURIA, PRIMARY, TYPE I
chr2	241457291	241457292	AGXT	GLY	GLN	82	604285.0004	HYPEROXALURIA, PRIMARY, TYPE I
chr2	241459468	241459469	AGXT	PHE	ILE	152	604285.0006	HYPEROXALURIA, PRIMARY, TYPE I
chr2	241459522	241459523	AGXT	GLY	ARG	170	604285.0002	HYPEROXALURIA, PRIMARY, TYPE I
chr2	241462084	241462085	AGXT	SER	PRO	205	604285.0001	HYPEROXALURIA, PRIMARY, TYPE I
chr2	241463214	241463215	AGXT	ARG	CYS	233	604285.0008	HYPEROXALURIA, PRIMARY, TYPE I
chr2	241463215	241463216	AGXT	ARG	HIS	233	604285.0009	HYPEROXALURIA, PRIMARY, TYPE I
chr2	241463248	241463249	AGXT	ILE	THR	244	604285.0007	HYPEROXALURIA, PRIMARY, TYPE I
chr2	241463253	241463256	AGXT	TRP	TER	246	604285.0010	HYPEROXALURIA, PRIMARY, TYPE I
chr2	242330611	242330612	D2HGDH	ILE	SER	147	609186.0002	D-2-HYDROXYGLUTARIC ACIDURIA, SEVERE
chr2	242355805	242355806	D2HGDH	ASN	ASP	439	609186.0005	D-2-HYDROXYGLUTARIC ACIDURIA, MILD
chr2	242355821	242355822	D2HGDH	VAL	ALA	444	609186.0001	D-2-HYDROXYGLUTARIC ACIDURIA, SEVERE
chr2_random	159082	159083	D2HGDH	ILE	SER	147	609186.0002	D-2-HYDROXYGLUTARIC ACIDURIA, SEVERE
chr2_random	182630	182631	D2HGDH	ASN	ASP	439	609186.0005	D-2-HYDROXYGLUTARIC ACIDURIA, MILD
chr2_random	182646	182647	D2HGDH	VAL	ALA	444	609186.0001	D-2-HYDROXYGLUTARIC ACIDURIA, SEVERE
chr3	3167622	3167623	CRBN	ARG	TER	419	609262.0001	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2
chr3	4378876	4378877	SUMF1	SER	TER	359	607939.0002	MULTIPLE SULFATASE DEFICIENCY
chr3	4378906	4378907	SUMF1	ARG	GLN	349	607939.0005	MULTIPLE SULFATASE DEFICIENCY
chr3	4378907	4378908	SUMF1	ARG	TRP	349	607939.0004	MULTIPLE SULFATASE DEFICIENCY
chr3	4378907	4378908	SUMF1	ARG	GLN	349	607939.0005	MULTIPLE SULFATASE DEFICIENCY
chr3	4378910	4378911	SUMF1	ALA	PRO	348	607939.0014	MULTIPLE SULFATASE DEFICIENCY
chr3	4378919	4378920	SUMF1	ARG	CYS	345	607939.0013	MULTIPLE SULFATASE DEFICIENCY
chr3	4393021	4393022	SUMF1	CYS	ARG	336	607939.0006	MULTIPLE SULFATASE DEFICIENCY
chr3	4393048	4393049	SUMF1	ARG	TER	327	607939.0003	MULTIPLE SULFATASE DEFICIENCY
chr3	4393048	4393049	SUMF1	ARG	TRP	349	607939.0004	MULTIPLE SULFATASE DEFICIENCY
chr3	4433815	4433816	SUMF1	ALA	VAL	279	607939.0007	MULTIPLE SULFATASE DEFICIENCY
chr3	4434765	4434766	SUMF1	CYS	TYR	218	607939.0015	MULTIPLE SULFATASE DEFICIENCY
chr3	4466005	4466006	SUMF1	SER	PRO	155	607939.0010	MULTIPLE SULFATASE DEFICIENCY
chr3	4483927	4483928	SUMF1	MET	ARG	1	607939.0011	MULTIPLE SULFATASE DEFICIENCY
chr3	4483928	4483929	SUMF1	MET	VAL	1	607939.0017	MULTIPLE SULFATASE DEFICIENCY
chr3	4700155	4700156	ITPR1	PRO	LEU	1059	147265.0002	SPINOCEREBELLAR ATAXIA 15
chr3	8750601	8750602	CAV3	VAL	LEU	14	601253.0020	LONG QT SYNDROME 9
chr3	8750641	8750642	CAV3	ARG	GLN	27	601253.0007	 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, INCLUDED
chr3	8750641	8750642	CAV3	ARG	GLN	27	601253.0007	 MYOPATHY, DISTAL, WITH DECREASED CAVEOLIN 3, INCLUDED
chr3	8750641	8750642	CAV3	ARG	GLN	27	601253.0007	RIPPLING MUSCLE DISEASE 2 CREATINE PHOSPHOKINASE, ELEVATED SERUM, INCLUDED
chr3	8750645	8750646	CAV3	ASP	GLU	28	601253.0008	RIPPLING MUSCLE DISEASE 2 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, INCLUDED
chr3	8750647	8750648	CAV3	PRO	LEU	29	601253.0012	CREATINE PHOSPHOKINASE, ELEVATED SERUM
chr3	8750660	8750661	CAV3	ASN	LYS	33	601253.0014	MYOPATHY, DISTAL, WITH DECREASED CAVEOLIN 3
chr3	8762232	8762233	CAV3	ALA	THR	46	601253.0005	 CREATINE PHOSPHOKINASE, ELEVATED SERUM, INCLUDED
chr3	8762232	8762233	CAV3	ALA	THR	46	601253.0005	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C RIPPLING MUSCLE DISEASE 2, INCLUDED
chr3	8762233	8762234	CAV3	ALA	VAL	46	601253.0006	RIPPLING MUSCLE DISEASE 2
chr3	8762235	8762236	CAV3	GLU	LYS	47	601253.0015	RIPPLING MUSCLE DISEASE 2
chr3	8762262	8762263	CAV3	GLY	SER	56	601253.0003	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, AUTOSOMAL RECESSIVE
chr3	8762286	8762289	CAV3	THR	SER	64	601253.0013	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC
chr3	8762312	8762313	CAV3	CYS	TRP	72	601253.0004	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
chr3	8762329	8762330	CAV3	THR	MET	78	601253.0018	LONG QT SYNDROME 9 LONG QT SYNDROME 2/9, DIGENIC, INCLUDED
chr3	8762332	8762333	CAV3	LEU	ARG	79	601253.0021	LONG QT SYNDROME 9
chr3	8762349	8762350	CAV3	ALA	THR	85	601253.0019	LONG QT SYNDROME 9
chr3	8762356	8762357	CAV3	LEU	PRO	87	601253.0009	RIPPLING MUSCLE DISEASE 2
chr3	8762373	8762374	CAV3	ALA	THR	93	601253.0010	RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
chr3	8762386	8762387	CAV3	PHE	CYS	97	601253.0017	LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO
chr3	8762410	8762411	CAV3	PRO	LEU	105	601253.0001	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C RIPPLING MUSCLE DISEASE 2, INCLUDED
chr3	8762517	8762520	CAV3	SER	ARG	141	601253.0016	LONG QT SYNDROME 9
chr3	9701310	9701311	MTMR14	ARG	GLN	336	611089.0001	CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF
chr3	9705717	9705718	MTMR14	TYR	CYS	462	611089.0002	CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF
chr3	9767106	9767107	OGG1	ARG	GLN	46	601982.0001	RENAL CELL CARCINOMA, CLEAR CELL, SOMATIC
chr3	9954307	9954308	CRELD1	ARG	HIS	107	607170.0003	ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME
chr3	9957556	9957557	CRELD1	PRO	ALA	162	607170.0004	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
chr3	9960082	9960083	CRELD1	THR	ILE	311	607170.0002	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
chr3	9960135	9960136	CRELD1	ARG	CYS	329	607170.0001	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
chr3	9961239	9961240	CRELD1	GLU	LYS	414	607170.0005	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
chr3	10051480	10051481	FANCD2	SER	GLY	126	227646.0002	FANCONI ANEMIA, COMPLEMENTATION GROUP D2
chr3	10059748	10059749	FANCD2	ARG	TRP	302	227646.0003	FANCONI ANEMIA, COMPLEMENTATION GROUP D2
chr3	10059802	10059803	FANCD2	GLN	TER	320	227646.0004	FANCONI ANEMIA, COMPLEMENTATION GROUP D2
chr3	10106998	10106999	FANCD2	ARG	HIS	1236	227646.0001	FANCONI ANEMIA, COMPLEMENTATION GROUP D2
chr3	10158718	10158719	VHL	LEU	PRO	63	608537.0016	PHEOCHROMOCYTOMA
chr3	10158721	10158722	VHL	ARG	PRO	64	608537.0015	PHEOCHROMOCYTOMA
chr3	10158771	10158772	VHL	PRO	SER	81	608537.0020	VON HIPPEL-LINDAU SYNDROME
chr3	10158780	10158781	VHL	VAL	LEU	84	608537.0025	VON HIPPEL-LINDAU SYNDROME
chr3	10158793	10158794	VHL	TRP	SER	88	608537.0007	HEMANGIOBLASTOMA, SPORADIC CEREBELLAR VON HIPPEL-LINDAU SYNDROME, INCLUDED
chr3	10158807	10158808	VHL	GLY	SER	93	608537.0026	PHEOCHROMOCYTOMA
chr3	10158822	10158823	VHL	TYR	HIS	98	608537.0009	VON HIPPEL-LINDAU SYNDROME
chr3	10158864	10158865	VHL	TYR	HIS	112	608537.0012	VON HIPPEL-LINDAU SYNDROME
chr3	10158864	10158865	VHL	TYR	ASN	112	608537.0017	VON HIPPEL-LINDAU SYNDROME
chr3	10163232	10163233	VHL	ASP	TYR	126	608537.0022	ERYTHROCYTOSIS, FAMILIAL, 2
chr3	10163244	10163245	VHL	VAL	LEU	130	608537.0021	ERYTHROCYTOSIS, FAMILIAL, 2
chr3	10163261	10163262	VHL	LEU	PHE	135	608537.0008	HEMANGIOBLASTOMA, SPORADIC CEREBELLAR
chr3	10166487	10166488	VHL	ARG	TER	161	608537.0006	VON HIPPEL-LINDAU SYNDROME
chr3	10166494	10166495	VHL	LEU	PRO	163	608537.0018	RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
chr3	10166502	10166503	VHL	VAL	PHE	166	608537.0013	VON HIPPEL-LINDAU SYNDROME
chr3	10166505	10166506	VHL	ARG	TRP	167	608537.0003	VON HIPPEL-LINDAU SYNDROME PHEOCHROMOCYTOMA, INCLUDED
chr3	10166505	10166506	VHL	ARG	GLY	167	608537.0004	VON HIPPEL-LINDAU SYNDROME
chr3	10166506	10166507	VHL	ARG	GLN	167	608537.0005	VON HIPPEL-LINDAU SYNDROME
chr3	10166554	10166555	VHL	SER	TER	183	608537.0002	RENAL CELL CARCINOMA
chr3	10166568	10166569	VHL	LEU	VAL	188	608537.0014	 PHEOCHROMOCYTOMA, INCLUDED
chr3	10166568	10166569	VHL	LEU	VAL	188	608537.0014	VON HIPPEL-LINDAU SYNDROME ERYTHROCYTOSIS, FAMILIAL, 2, INCLUDED
chr3	10166577	10166578	VHL	HIS	ASP	191	608537.0024	ERYTHROCYTOSIS, FAMILIAL, 2
chr3	10166580	10166581	VHL	PRO	SER	192	608537.0023	ERYTHROCYTOSIS, FAMILIAL, 2
chr3	10166604	10166605	VHL	ARG	TRP	200	608537.0019	POLYCYTHEMIA, CHUVASH TYPE
chr3	10303413	10303414	GHRL	GLN	LEU	90	605353.0003	OBESITY, SUSCEPTIBILITY TO
chr3	10303452	10303453	GHRL	GLN	LEU	90	605353.0003	OBESITY, SUSCEPTIBILITY TO
chr3	10306456	10306457	GHRL	LEU	MET	72	605353.0002	OBESITY, AGE AT ONSET OF METABOLIC SYNDROME, SUSCEPTIBILITY TO, INCLUDED
chr3	10306518	10306519	GHRL	ARG	GLN	51	605353.0001	OBESITY, SUSCEPTIBILITY TO METABOLIC SYNDROME, SUSCEPTIBILITY TO, INCLUDED
chr3	10376575	10376576	ATP2B2	VAL	MET	586	108733.0001	DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF
chr3	12409199	12409202	PPARG	CYS	SER	190	601487.0014	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
chr3	12409211	12409212	PPARG	ARG	TRP	194	601487.0015	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
chr3	12433323	12433324	PPARG	GLN	PRO	286	601487.0004	COLON CANCER, SOMATIC
chr3	12433329	12433330	PPARG	ARG	HIS	288	601487.0006	COLON CANCER, SOMATIC
chr3	12433334	12433335	PPARG	VAL	MET	290	601487.0008	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
chr3	12433421	12433422	PPARG	LYS	TER	319	601487.0005	COLON CANCER, SOMATIC
chr3	12433544	12433547	PPARG	PHE	LEU	388	601487.0012	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
chr3	12450398	12450399	PPARG	ARG	CYS	425	601487.0013	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
chr3	12450556	12450557	PPARG	HIS	HIS	449	601487.0010	GLIOMA SUSCEPTIBILITY 1
chr3	12450609	12450610	PPARG	PRO	LEU	467	601487.0007	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
chr3	12533125	12533126	TSEN2	TYR	CYS	309	608753.0001	PONTOCEREBELLAR HYPOPLASIA TYPE 2B
chr3	12601122	12601123	RAF1	LEU	VAL	613	164760.0004	LEOPARD SYNDROME 2 NOONAN SYNDROME 5, INCLUDED
chr3	12602243	12602244	RAF1	THR	ARG	491	164760.0003	NOONAN SYNDROME 5
chr3	12620687	12620688	RAF1	PRO	SER	261	164760.0002	NOONAN SYNDROME 5
chr3	12620698	12620699	RAF1	SER	LEU	257	164760.0001	NOONAN SYNDROME 5 LEOPARD SYNDROME 2, INCLUDED
chr3	13835617	13835618	WNT7A	ARG	CYS	292	601570.0001	ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
chr3	13871274	13871275	WNT7A	ALA	THR	109	601570.0002	FUHRMANN SYNDROME
chr3	14158165	14158166	TMEM43	SER	LEU	358	612048.0001	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5
chr3	15474707	15474708	COLQ	ARG	TER	315	603033.0008	ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
chr3	15474806	15474807	COLQ	ARG	TER	282	603033.0004	ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
chr3	15482947	15482948	COLQ	GLY	TER	240	603033.0010	ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
chr3	15487123	15487124	COLQ	GLU	TER	214	603033.0002	ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
chr3	15491957	15491958	COLQ	SER	TER	169	603033.0003	ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
chr3	15651989	15651990	BTD	GLY	SER	34	609019.0004	BIOTINIDASE DEFICIENCY
chr3	15652124	15652125	BTD	ARG	CYS	79	609019.0010	BIOTINIDASE DEFICIENCY
chr3	15660877	15660878	BTD	ALA	THR	171	609019.0005	BIOTINIDASE DEFICIENCY
chr3	15661121	15661122	BTD	ASP	GLY	252	609019.0006	BIOTINIDASE DEFICIENCY
chr3	15661573	15661574	BTD	PHE	VAL	403	609019.0009	BIOTINIDASE DEFICIENCY
chr3	15661696	15661697	BTD	ASP	HIS	444	609019.0005	BIOTINIDASE DEFICIENCY
chr3	15661696	15661697	BTD	ASP	HIS	444	609019.0009	BIOTINIDASE DEFICIENCY
chr3	15661734	15661735	BTD	GLN	HIS	456	609019.0007	BIOTINIDASE DEFICIENCY
chr3	15661832	15661833	BTD	ASN	THR	489	609019.0008	BIOTINIDASE DEFICIENCY
chr3	15661961	15661962	BTD	THR	MET	532	609019.0011	BIOTINIDASE DEFICIENCY
chr3	15661978	15661979	BTD	ARG	CYS	538	609019.0003	BIOTINIDASE DEFICIENCY
chr3	16614679	16614680	DAZL	THR	ALA	54	601486.0001	SPERMATOGENIC FAILURE, SUSCEPTIBILITY TO
chr3	24139388	24139389	THRB	PHE	CYS	459	190160.0032	THYROID HORMONE RESISTANCE, GENERALIZED
chr3	24139391	24139392	THRB	VAL	ALA	458	190160.0035	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
chr3	24139406	24139407	THRB	PRO	HIS	453	190160.0002	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24139407	24139408	THRB	PRO	THR	453	190160.0012	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24139415	24139416	THRB	LEU	HIS	450	190160.0030	THYROID HORMONE RESISTANCE, GENERALIZED
chr3	24139428	24139429	THRB	CYS	ARG	446	190160.0034	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24139437	24139438	THRB	LYS	GLU	443	190160.0013	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24139440	24139441	THRB	MET	VAL	442	190160.0010	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24139451	24139452	THRB	ARG	HIS	438	190160.0024	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24139462	24139463	THRB	CYS	TER	434	190160.0036	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24139616	24139617	THRB	ARG	HIS	383	190160.0039	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24144097	24144098	THRB	GLY	GLU	347	190160.0009	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24144103	24144104	THRB	GLY	VAL	345	190160.0008	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24144103	24144104	THRB	GLY	ASP	345	190160.0029	THYROID HORMONE RESISTANCE, GENERALIZED
chr3	24144104	24144105	THRB	GLY	ARG	345	190160.0001	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24144104	24144105	THRB	GLY	SER	345	190160.0014	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24144117	24144118	THRB	GLN	HIS	340	190160.0004	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24144125	24144126	THRB	ARG	TRP	338	190160.0023	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, INCLUDED
chr3	24144128	24144129	THRB	THR	ALA	337	190160.0040	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
chr3	24144143	24144144	THRB	GLY	ARG	332	190160.0007	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24144173	24144174	THRB	ASP	HIS	322	190160.0027	THYROID HORMONE RESISTANCE, GENERALIZED
chr3	24144178	24144179	THRB	ARG	HIS	320	190160.0015	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24144178	24144179	THRB	ARG	LEU	320	190160.0033	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
chr3	24144179	24144180	THRB	ARG	CYS	320	190160.0021	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24144188	24144189	THRB	ALA	THR	317	190160.0006	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24144190	24144191	THRB	ARG	HIS	316	190160.0018	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
chr3	24144208	24144209	THRB	MET	THR	310	190160.0026	THYROID HORMONE RESISTANCE, GENERALIZED
chr3	24160005	24160006	THRB	ARG	GLN	243	190160.0037	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24160006	24160007	THRB	ARG	TRP	243	190160.0038	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	24160033	24160034	THRB	ALA	THR	234	190160.0017	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
chr3	30688601	30688602	TGFBR2	LEU	PRO	308	190182.0005	LOEYS-DIETZ SYNDROME, TYPE 2B
chr3	30688622	30688623	TGFBR2	THR	MET	315	190182.0002	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
chr3	30688684	30688685	TGFBR2	TYR	ASN	336	190182.0008	LOEYS-DIETZ SYNDROME, TYPE 1B
chr3	30688741	30688742	TGFBR2	ALA	PRO	355	190182.0009	LOEYS-DIETZ SYNDROME, TYPE 1B
chr3	30688747	30688748	TGFBR2	GLY	TRP	357	190182.0010	LOEYS-DIETZ SYNDROME, TYPE 1B
chr3	30690618	30690619	TGFBR2	MET	VAL	425	190182.0017	LOEYS-DIETZ SYNDROME, TYPE 2B
chr3	30690625	30690626	TGFBR2	PRO	LEU	427	190182.0018	LOEYS-DIETZ SYNDROME, TYPE 2B
chr3	30690691	30690692	TGFBR2	SER	PHE	449	190182.0006	LOEYS-DIETZ SYNDROME, TYPE 2B
chr3	30690723	30690724	TGFBR2	ARG	CYS	460	190182.0014	LOEYS-DIETZ SYNDROME, TYPE 2B
chr3	30690724	30690725	TGFBR2	ARG	HIS	460	190182.0015	LOEYS-DIETZ SYNDROME, TYPE 2B
chr3	30704965	30704966	TGFBR2	ARG	TER	495	190182.0019	LOEYS-DIETZ SYNDROME, TYPE 1B
chr3	30705006	30705007	TGFBR2	GLN	GLN	508	190182.0004	LOEYS-DIETZ SYNDROME, TYPE 2B
chr3	30707966	30707967	TGFBR2	GLU	GLN	526	190182.0003	ESOPHAGEAL CANCER, SOMATIC
chr3	30707972	30707973	TGFBR2	ARG	CYS	528	190182.0012	LOEYS-DIETZ SYNDROME, TYPE 1B
chr3	30707973	30707974	TGFBR2	ARG	HIS	528	190182.0011	LOEYS-DIETZ SYNDROME, TYPE 1B COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, SOMATIC, INCLUDED
chr3	30707999	30708000	TGFBR2	ARG	CYS	537	190182.0007	LOEYS-DIETZ SYNDROME, TYPE 2B
chr3	32155103	32155104	GPD1L	GLU	LYS	83	611778.0002	BRUGADA SYNDROME 2
chr3	32156726	32156727	GPD1L	ILE	VAL	124	611778.0003	BRUGADA SYNDROME 2
chr3	32175569	32175570	GPD1L	ARG	CYS	273	611778.0004	BRUGADA SYNDROME 2
chr3	32175591	32175592	GPD1L	ALA	VAL	280	611778.0001	BRUGADA SYNDROME 2
chr3	33013802	33013803	GLB1	TYR	CYS	591	611458.0026	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
chr3	33013803	33013804	GLB1	TYR	ASN	591	611458.0025	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
chr3	33030668	33030669	GLB1	TRP	CYS	509	611458.0011	MORQUIO SYNDROME B
chr3	33030758	33030759	GLB1	TRP	CYS	509	611458.0011	MORQUIO SYNDROME B
chr3	33030787	33030788	GLB1	THR	ALA	500	611458.0020	MORQUIO SYNDROME B
chr3	33033238	33033239	GLB1	ARG	HIS	482	611458.0010	MORQUIO SYNDROME B GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
chr3	33033239	33033240	GLB1	ARG	CYS	482	611458.0016	MORQUIO SYNDROME B
chr3	33033313	33033314	GLB1	ARG	GLN	457	611458.0008	GM1-GANGLIOSIDOSIS, TYPE III
chr3	33033314	33033315	GLB1	ARG	TER	457	611458.0002	GM1-GANGLIOSIDOSIS, TYPE I
chr3	33034977	33034978	GLB1	GLY	GLU	438	611458.0018	MORQUIO SYNDROME B
chr3	33038071	33038072	GLB1	GLN	PRO	408	611458.0021	MORQUIO SYNDROME B
chr3	33062632	33062633	GLB1	ARG	TER	351	611458.0019	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
chr3	33068261	33068262	GLB1	TYR	CYS	316	611458.0007	GM1-GANGLIOSIDOSIS, TYPE I
chr3	33068474	33068475	GLB1	TRP	LEU	273	611458.0009	MORQUIO SYNDROME B
chr3	33074695	33074696	GLB1	ARG	CYS	208	611458.0017	GM1-GANGLIOSIDOSIS, TYPE I
chr3	33074716	33074717	GLB1	ARG	CYS	201	611458.0003	GM1-GANGLIOSIDOSIS, TYPE II
chr3	33085344	33085345	GLB1	GLY	ARG	123	611458.0006	GM1-GANGLIOSIDOSIS, TYPE I
chr3	33085464	33085465	GLB1	TYR	HIS	83	611458.0015	MORQUIO SYNDROME B
chr3	33089039	33089040	GLB1	THR	MET	82	611458.0013	GM1-GANGLIOSIDOSIS, TYPE III
chr3	33089082	33089083	GLB1	ARG	TRP	68	611458.0022	GM1-GANGLIOSIDOSIS, TYPE II
chr3	33089108	33089109	GLB1	ARG	HIS	59	611458.0023	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
chr3	33089132	33089133	GLB1	ILE	THR	51	611458.0004	GM1-GANGLIOSIDOSIS, TYPE III
chr3	33089139	33089140	GLB1	ARG	CYS	49	611458.0001	GM1-GANGLIOSIDOSIS, TYPE I
chr3	33130575	33130576	CRTAP	MET	ILE	1	605497.0005	OSTEOGENESIS IMPERFECTA, TYPE IIB
chr3	33146466	33146467	CRTAP	GLN	TER	276	605497.0004	OSTEOGENESIS IMPERFECTA, TYPE IIB
chr3	37013127	37013128	MLH1	SER	PHE	44	120436.0002	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
chr3	37013195	37013196	MLH1	GLY	TRP	67	120436.0011	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 MISMATCH REPAIR CANCER SYNDROME, INCLUDED
chr3	37013195	37013196	MLH1	LYS	ALA	618	120436.0012	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
chr3	37013196	37013197	MLH1	GLY	GLU	67	120436.0029	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
chr3	37020938	37020939	MLH1	THR	MET	117	120436.0017	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
chr3	37023498	37023499	MLH1	ASP	HIS	132	120436.0019	COLORECTAL CANCER, SPORADIC, SUSCEPTIBILITY TO
chr3	37028592	37028593	MLH1	ARG	TER	226	120436.0010	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 MISMATCH REPAIR CANCER SYNDROME, INCLUDED
chr3	37031003	37031004	MLH1	SER	TER	252	120436.0001	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
chr3	37034015	37034016	MLH1	SER	TER	269	120436.0021	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
chr3	37036905	37036906	MLH1	HIS	PRO	329	120436.0008	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
chr3	37064014	37064015	MLH1	GLU	GLY	578	120436.0013	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
chr3	37065056	37065057	MLH1	PRO	SER	648	120436.0020	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 MISMATCH REPAIR CANCER SYNDROME, INCLUDED
chr3	37065449	37065450	MLH1	ALA	THR	681	120436.0022	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
chr3	37065449	37065450	MLH1	MET	ASN	35	120436.0028	MISMATCH REPAIR CANCER SYNDROME COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2, INCLUDED
chr3	38493847	38493848	ACVR2B	ARG	HIS	40	602730.0001	HETEROTAXY, VISCERAL, 4, AUTOSOMAL
chr3	38499767	38499768	ACVR2B	VAL	ILE	494	602730.0002	HETEROTAXY, VISCERAL, 4, AUTOSOMAL
chr3	38567096	38567097	SCN5A	ALA	THR	1924	600163.0012	BRUGADA SYNDROME 1
chr3	38567312	38567313	SCN5A	ASP	ASN	1819	600163.0035	LONG QT SYNDROME 2/3, DIGENIC
chr3	38567389	38567390	SCN5A	ARG	HIS	1826	600163.0020	LONG QT SYNDROME 3
chr3	38567411	38567412	SCN5A	ASP	ASN	1819	600163.0035	LONG QT SYNDROME 2/3, DIGENIC
chr3	38567482	38567483	SCN5A	TYR	CYS	1795	600163.0029	LONG QT SYNDROME 3
chr3	38567483	38567484	SCN5A	TYR	HIS	1795	600163.0030	BRUGADA SYNDROME 1
chr3	38567516	38567517	SCN5A	GLU	LYS	1784	600163.0008	LONG QT SYNDROME 3 BRUGADA SYNDROME 1, INCLUDED
chr3	38567516	38567517	SCN5A	GLU	LYS	1784	600163.0008	 SINUS NODE DISEASE, INCLUDED
chr3	38567737	38567738	SCN5A	SER	LEU	1710	600163.0014	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL
chr3	38567737	38567738	SCN5A	SER	ASN	941	600163.0015	LONG QT SYNDROME 3
chr3	38567935	38567936	SCN5A	ARG	HIS	1644	600163.0002	LONG QT SYNDROME 3
chr3	38567998	38567999	SCN5A	ARG	GLN	1623	600163.0007	LONG QT SYNDROME 3 LONG QT SYNDROME 3/6, DIGENIC, INCLUDED
chr3	38567999	38568000	SCN5A	ARG	TER	1623	600163.0028	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
chr3	38568007	38568008	SCN5A	THR	MET	1620	600163.0004	BRUGADA SYNDROME 1
chr3	38568007	38568008	SCN5A	VAL	TER	1398	600163.0006	BRUGADA SYNDROME 1
chr3	38570803	38570804	SCN5A	ASP	ASN	1595	600163.0017	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
chr3	38570803	38570804	SCN5A	ASP	HIS	1595	600163.0039	CARDIOMYOPATHY, DILATED, 1E
chr3	38572158	38572159	SCN5A	ARG	TRP	1512	600163.0011	BRUGADA SYNDROME 1
chr3	38573763	38573766	SCN5A	TRP	TER	1421	600163.0036	BRUGADA SYNDROME 1
chr3	38576664	38576665	SCN5A	GLY	ARG	1408	600163.0026	 CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED
chr3	38576664	38576665	SCN5A	GLY	ARG	1408	600163.0026	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE BRUGADA SYNDROME 1, INCLUDED
chr3	38576750	38576751	SCN5A	ASN	SER	1325	600163.0003	LONG QT SYNDROME 3
chr3	38576912	38576913	SCN5A	ASN	SER	1325	600163.0003	LONG QT SYNDROME 3
chr3	38578950	38578951	SCN5A	LEU	PHE	1308	600163.0040	BRUGADA SYNDROME
chr3	38578979	38578980	SCN5A	PRO	LEU	1298	600163.0025	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
chr3	38582920	38582921	SCN5A	ASP	ASN	1275	600163.0034	CARDIOMYOPATHY, DILATED, 1E ATRIAL STANDSTILL, INCLUDED
chr3	38582959	38582960	SCN5A	GLY	SER	1262	600163.0032	BRUGADA SYNDROME 1
chr3	38583049	38583050	SCN5A	ARG	TRP	1232	600163.0004	BRUGADA SYNDROME 1
chr3	38591879	38591880	SCN5A	ARG	GLN	1193	600163.0023	BRUGADA SYNDROME 1 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
chr3	38595907	38595908	SCN5A	SER	TYR	1103	600163.0024	LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO SUDDEN INFANT DEATH SYNDROME, INCLUDED
chr3	38595910	38595911	SCN5A	SER	TYR	1103	600163.0024	LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO SUDDEN INFANT DEATH SYNDROME, INCLUDED
chr3	38597496	38597497	SCN5A	GLU	LYS	1053	600163.0033	BRUGADA SYNDROME 1
chr3	38597664	38597665	SCN5A	ALA	SER	997	600163.0019	LONG QT SYNDROME 3
chr3	38614281	38614282	SCN5A	ALA	VAL	735	600163.0022	BRUGADA SYNDROME 1
chr3	38620423	38620424	SCN5A	HIS	ARG	558	600163.0031	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
chr3	38620556	38620557	SCN5A	GLY	CYS	514	600163.0016	CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE
chr3	38620561	38620562	SCN5A	THR	ILE	512	600163.0031	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
chr3	38623203	38623204	SCN5A	ARG	HIS	367	600163.0021	BRUGADA SYNDROME 1
chr3	38630246	38630247	SCN5A	VAL	ILE	232	600163.0040	BRUGADA SYNDROME
chr3	38630281	38630282	SCN5A	THR	ILE	220	600163.0027	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
chr3	38630281	38630282	SCN5A	THR	ILE	220	600163.0037	CARDIOMYOPATHY, DILATED, 1E
chr3	38630478	38630479	SCN5A	VAL	ILE	232	600163.0040	BRUGADA SYNDROME
chr3	38630513	38630514	SCN5A	THR	ILE	220	600163.0027	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
chr3	38630513	38630514	SCN5A	THR	ILE	220	600163.0037	CARDIOMYOPATHY, DILATED, 1E
chr3	39282165	39282166	CX3CR1	THR	MET	280	601470.0001	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS CORONARY ARTERY DISEASE, RESISTANCE TO, INCLUDED
chr3	39282165	39282166	CX3CR1	THR	MET	280	601470.0001	 MACULAR DEGENERATION, AGE-RELATED, SUSCEPTIBILITY TO, INCLUDED
chr3	39282259	39282260	CX3CR1	VAL	ILE	249	601470.0001	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS CORONARY ARTERY DISEASE, RESISTANCE TO, INCLUDED
chr3	39282259	39282260	CX3CR1	VAL	ILE	249	601470.0001	 MACULAR DEGENERATION, AGE-RELATED, SUSCEPTIBILITY TO, INCLUDED
chr3	39408007	39408008	SLC25A38	ARG	TER	117	610819.0001	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
chr3	39408450	39408451	SLC25A38	ARG	PRO	187	610819.0003	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
chr3	39411068	39411069	SLC25A38	LYS	TER	264	610819.0005	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
chr3	41241100	41241101	CTNNB1	ASP	TYR	32	116806.0004	HEPATOBLASTOMA, SOMATIC PILOMATRICOMA, SOMATIC, INCLUDED
chr3	41241100	41241101	CTNNB1	ASP	TYR	32	116806.0016	PILOMATRICOMA, SOMATIC
chr3	41241101	41241102	CTNNB1	ASP	GLY	32	116806.0006	PILOMATRICOMA, SOMATIC
chr3	41241104	41241105	CTNNB1	SER	TYR	33	116806.0002	COLORECTAL CANCER, SOMATIC PILOMATRICOMA, SOMATIC, INCLUDED
chr3	41241104	41241105	CTNNB1	SER	PHE	33	116806.0007	PILOMATRICOMA, SOMATIC MEDULLOBLASTOMA, SOMATIC, INCLUDED
chr3	41241107	41241108	CTNNB1	GLY	VAL	34	116806.0005	HEPATOBLASTOMA, SOMATIC
chr3	41241107	41241108	CTNNB1	GLY	GLU	34	116806.0008	PILOMATRICOMA, SOMATIC
chr3	41241116	41241117	CTNNB1	SER	CYS	37	116806.0009	PILOMATRICOMA, SOMATIC
chr3	41241116	41241117	CTNNB1	SER	PHE	37	116806.0010	PILOMATRICOMA, SOMATIC
chr3	41241116	41241117	CTNNB1	SER	CYS	37	116806.0012	OVARIAN CANCER, SOMATIC
chr3	41241127	41241128	CTNNB1	THR	ALA	41	116806.0003	HEPATOBLASTOMA, SOMATIC DESMOID TUMOR, SOMATIC, INCLUDED
chr3	41241128	41241129	CTNNB1	THR	ILE	41	116806.0011	PILOMATRICOMA, SOMATIC
chr3	41241139	41241140	CTNNB1	SER	PRO	45	116806.0014	HEPATOCELLULAR CARCINOMA, SOMATIC
chr3	41241140	41241141	CTNNB1	SER	PHE	45	116806.0013	HEPATOCELLULAR CARCINOMA, SOMATIC
chr3	43707506	43707507	ABHD5	GLU	LYS	7	604780.0005	CHANARIN-DORFMAN SYNDROME
chr3	43715821	43715822	ABHD5	SER	TER	33	604780.0002	CHANARIN-DORFMAN SYNDROME
chr3	43718965	43718966	ABHD5	GLN	PRO	130	604780.0004	CHANARIN-DORFMAN SYNDROME
chr3	43734170	43734171	ABHD5	GLU	LYS	260	604780.0007	CHANARIN-DORFMAN SYNDROME
chr3	46374211	46374212	CCR2	VAL	ILE	64	601267.0001	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
chr3	46389576	46389577	CCR5	ARG	SER	60	601373.0008	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
chr3	46389699	46389700	CCR5	CYS	TER	101	601373.0005	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
chr3	46390064	46390065	CCR5	ARG	GLN	223	601373.0003	CCR5 POLYMORPHISM, ORIENTAL 2
chr3	46390400	46390401	CCR5	ALA	VAL	335	601373.0004	CCR5 POLYMORPHISM, AFRICAN-AMERICAN
chr3	46596479	46596480	TDGF1	PRO	LEU	125	187395.0001	FOREBRAIN DEFECTS
chr3	46725648	46725649	TMIE	ARG	CYS	81	607237.0002	DEAFNESS, AUTOSOMAL RECESSIVE 6
chr3	46725657	46725658	TMIE	ARG	TRP	84	607237.0003	DEAFNESS, AUTOSOMAL RECESSIVE 6
chr3	46725681	46725682	TMIE	ARG	TRP	92	607237.0004	DEAFNESS, AUTOSOMAL RECESSIVE 6
chr3	46875988	46875989	MYL3	ARG	HIS	154	160790.0002	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
chr3	46876004	46876005	MYL3	MET	VAL	149	160790.0001	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
chr3	46876022	46876023	MYL3	GLU	LYS	143	160790.0003	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
chr3	48483109	48483110	TREX1	ASP	ASN	18	606609.0007	CHILBLAIN LUPUS
chr3	48483398	48483399	TREX1	ARG	HIS	114	606609.0001	AICARDI-GOUTIERES SYNDROME 1 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, INCLUDED
chr3	48483547	48483548	TREX1	ARG	TER	164	606609.0002	AICARDI-GOUTIERES SYNDROME 1, AGS1
chr3	48483655	48483656	TREX1	ASP	ASN	200	606609.0006	AICARDI-GOUTIERES SYNDROME 1
chr3	48483659	48483660	TREX1	VAL	ASP	201	606609.0004	AICARDI-GOUTIERES SYNDROME 1
chr3	48578717	48578718	COL7A1	MET	LYS	2798	120120.0001	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
chr3	48579155	48579156	COL7A1	GLY	ARG	2749	120120.0038	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
chr3	48580172	48580173	COL7A1	GLY	ARG	2653	120120.0036	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
chr3	48580534	48580535	COL7A1	GLY	CYS	2623	120120.0007	EPIDERMOLYSIS BULLOSA, PRETIBIAL
chr3	48582740	48582741	COL7A1	ARG	TER	2471	120120.0037	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
chr3	48585148	48585149	COL7A1	GLY	ARG	2287	120120.0023	TOENAIL DYSTROPHY, ISOLATED
chr3	48585377	48585378	COL7A1	GLY	GLU	2251	120120.0014	 EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT, INCLUDED
chr3	48585377	48585378	COL7A1	GLY	GLU	2251	120120.0014	TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN TOENAIL DYSTROPHY, ISOLATED, INCLUDED
chr3	48585483	48585484	COL7A1	GLY	ARG	2242	120120.0017	EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
chr3	48587552	48587553	COL7A1	GLY	ASP	2076	120120.0035	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
chr3	48587561	48587562	COL7A1	GLY	VAL	2073	120120.0033	EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
chr3	48587654	48587655	COL7A1	ARG	CYS	2069	120120.0041	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE
chr3	48587672	48587673	COL7A1	ARG	TRP	2063	120120.0034	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
chr3	48587828	48587829	COL7A1	GLY	ARG	2043	120120.0016	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
chr3	48587837	48587838	COL7A1	GLY	SER	2040	120120.0002	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
chr3	48587845	48587846	COL7A1	GLY	GLU	2037	120120.0031	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
chr3	48587855	48587856	COL7A1	GLY	ARG	2034	120120.0028	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
chr3	48587864	48587865	COL7A1	GLY	SER	2031	120120.0022	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
chr3	48587911	48587912	COL7A1	GLY	GLU	2015	120120.0027	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
chr3	48587938	48587939	COL7A1	GLY	ASP	2006	120120.0026	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
chr3	48587948	48587949	COL7A1	GLY	ARG	2003	120120.0008	EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
chr3	48590933	48590934	COL7A1	GLY	ARG	1815	120120.0025	TOENAIL DYSTROPHY, ISOLATED
chr3	48592737	48592738	COL7A1	PRO	LEU	1699	120120.0029	EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
chr3	48593707	48593708	COL7A1	ARG	TER	1630	120120.0032	EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
chr3	48593919	48593920	COL7A1	GLY	ARG	1595	120120.0024	TOENAIL DYSTROPHY, ISOLATED
chr3	48595052	48595053	COL7A1	GLY	ASP	1519	120120.0015	TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
chr3	48597178	48597179	COL7A1	GLY	ARG	1347	120120.0011	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT
chr3	48605049	48605050	COL7A1	TYR	TER	311	120120.0005	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
chr3	48605974	48605975	COL7A1	LYS	ARG	142	120120.0041	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE
chr3	48871533	48871534	SLC25A20	GLN	ARG	238	212138.0007	CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
chr3	48875017	48875018	SLC25A20	ARG	TER	166	212138.0004	CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
chr3	49034582	49034583	NDUFAF3	MET	THR	1	612911.0003	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr3	49034877	49034878	NDUFAF3	MET	THR	1	612911.0003	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr3	49034933	49034934	NDUFAF3	GLY	ARG	77	612911.0001	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr3	49035339	49035340	NDUFAF3	ARG	PRO	122	612911.0002	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr3	49039155	49039156	IMPDH2	LEU	PHE	263	146691.0001	IMPDH2 ENZYME ACTIVITY, VARIATION IN
chr3	49135615	49135616	LAMB2	LEU	PHE	1393	150325.0007	NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES
chr3	49135652	49135653	LAMB2	ASN	LYS	1380	150325.0007	NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES
chr3	49138885	49138886	LAMB2	TYR	TER	689	150325.0004	PIERSON SYNDROME
chr3	49142770	49142771	LAMB2	CYS	TER	374	150325.0005	PIERSON SYNDROME
chr3	49143251	49143252	LAMB2	CYS	ARG	321	150325.0008	NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES
chr3	49143564	49143565	LAMB2	ARG	GLN	246	150325.0006	NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES
chr3	49143565	49143566	LAMB2	ARG	TRP	246	150325.0002	PIERSON SYNDROME
chr3	49430328	49430329	AMT	ARG	HIS	320	238310.0006	GLYCINE ENCEPHALOPATHY
chr3	49431458	49431459	AMT	ASP	HIS	276	238310.0005	GLYCINE ENCEPHALOPATHY
chr3	49431478	49431479	AMT	GLY	ASP	269	238310.0001	GLYCINE ENCEPHALOPATHY
chr3	49431818	49431819	AMT	GLN	TER	192	238310.0007	GLYCINE ENCEPHALOPATHY
chr3	49434659	49434660	AMT	GLY	ARG	47	238310.0002	GLYCINE ENCEPHALOPATHY
chr3	49434673	49434674	AMT	HIS	ARG	42	238310.0003	GLYCINE ENCEPHALOPATHY
chr3	50205575	50205576	GNAT1	GLY	ASP	38	139330.0001	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3
chr3	50268697	50268698	GNAI2	ARG	CYS	179	139360.0001	ADRENAL CORTICAL TUMOR, SOMATIC GRANULOSA CELL TUMOR, SOMATIC, INCLUDED
chr3	50268697	50268698	GNAI2	ARG	CYS	179	139360.0001	 THECOMA, SOMATIC, INCLUDED
chr3	50268697	50268698	GNAI2	ARG	GLY	179	139360.0003	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC
chr3	50268698	50268699	GNAI2	ARG	HIS	179	139360.0002	ADRENAL CORTICAL TUMOR, SOMATIC GRANULOSA CELL TUMOR, SOMATIC, INCLUDED
chr3	50268698	50268699	GNAI2	ARG	HIS	179	139360.0002	 THECOMA, SOMATIC, INCLUDED
chr3	50269162	50269165	GNAI2	PHE	LEU	200	139360.0004	VENTRICULAR TACHYCARDIA, SOMATIC
chr3	50314589	50314590	HYAL1	GLU	LYS	268	607071.0001	MUCOPOLYSACCHARIDOSIS TYPE IX
chr3	51996048	51996049	ACY1	ARG	TRP	197	104620.0005	AMINOACYLASE 1 DEFICIENCY
chr3	51996243	51996244	ACY1	GLU	ASP	233	104620.0003	AMINOACYLASE 1 DEFICIENCY
chr3	51997876	51997877	ACY1	ARG	CYS	353	104620.0002	AMINOACYLASE 1 DEFICIENCY
chr3	51998081	51998082	ACY1	ARG	HIS	393	104620.0006	AMINOACYLASE 1 DEFICIENCY
chr3	52460340	52460341	TNNC1	GLY	ASP	159	191040.0001	CARDIOMYOPATHY, DILATED, 1Z
chr3	52460465	52460466	TNNC1	ASP	GLU	145	191040.0005	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
chr3	52460865	52460866	TNNC1	CYS	TYR	84	191040.0004	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
chr3	52461277	52461278	TNNC1	LEU	GLN	29	191040.0002	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
chr3	52463048	52463049	TNNC1	ALA	VAL	8	191040.0003	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
chr3	53132846	53132847	RFT1	ARG	CYS	67	611908.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In
chr3	57207281	57207282	HESX1	THR	ALA	181	601802.0003	GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
chr3	57207313	57207314	HESX1	SER	LEU	170	601802.0002	SEPTOOPTIC DYSPLASIA, MILD
chr3	57207344	57207345	HESX1	ARG	CYS	160	601802.0001	SEPTOOPTIC DYSPLASIA
chr3	57207472	57207473	HESX1	GLU	LYS	149	601802.0009	GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
chr3	57208909	57208910	HESX1	ILE	THR	26	601802.0005	PITUITARY HORMONE DEFICIENCY, COMBINED, 5
chr3	57208968	57208969	HESX1	GLN	HIS	6	601802.0010	PITUITARY HORMONE DEFICIENCY, COMBINED, 5
chr3	58038001	58038002	FLNB	PHE	CYS	161	603381.0004	LARSEN SYNDROME, AUTOSOMAL DOMINANT
chr3	58038037	58038038	FLNB	ALA	VAL	173	603381.0006	ATELOSTEOGENESIS, TYPE I
chr3	58039545	58039546	FLNB	MET	VAL	202	603381.0007	ATELOSTEOGENESIS, TYPE I ATELOSTEOGENESIS, TYPE III, INCLUDED
chr3	58042434	58042435	FLNB	GLU	LYS	227	603381.0011	LARSEN SYNDROME, AUTOSOMAL DOMINANT
chr3	58042458	58042459	FLNB	SER	PRO	235	603381.0010	BOOMERANG DYSPLASIA
chr3	58070393	58070394	FLNB	GLY	ARG	751	603381.0008	ATELOSTEOGENESIS, TYPE III
chr3	58070904	58070905	FLNB	ARG	TER	818	603381.0002	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
chr3	58096829	58096830	FLNB	GLY	ARG	1586	603381.0005	LARSEN SYNDROME, AUTOSOMAL DOMINANT
chr3	58096892	58096893	FLNB	ARG	TER	1607	603381.0003	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
chr3	58099257	58099258	FLNB	GLY	SER	1691	603381.0012	LARSEN SYNDROME, AUTOSOMAL DOMINANT
chr3	58106809	58106810	FLNB	GLY	TER	1850	603381.0014	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
chr3	58109537	58109538	FLNB	ARG	TER	2004	603381.0013	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
chr3	58388850	58388851	PDHB	PRO	SER	344	179060.0002	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY
chr3	58391617	58391618	PDHB	TYR	CYS	132	179060.0001	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY
chr3	70083722	70083723	MITF	ASN	LYS	210	156845.0006	TIETZ ALBINISM-DEAFNESS SYNDROME
chr3	70088300	70088301	MITF	ARG	TER	214	156845.0007	WAARDENBURG SYNDROME, TYPE IIA
chr3	70091150	70091151	MITF	SER	PRO	250	156845.0004	WAARDENBURG SYNDROME, TYPE IIA
chr3	70096720	70096721	MITF	SER	PRO	298	156845.0008	WAARDENBURG SYNDROME, TYPE IIA
chr3	71913312	71913313	PROK2	ARG	CYS	73	607002.0004	KALLMANN SYNDROME 4
chr3	71916799	71916800	PROK2	GLY	ARG	32	607002.0001	KALLMANN SYNDROME 4
chr3	77728570	77728571	ROBO2	ILE	THR	945	602431.0001	VESICOURETERAL REFLUX 2
chr3	77754218	77754219	ROBO2	ALA	THR	1236	602431.0002	VESICOURETERAL REFLUX 2
chr3	81667086	81667087	GBE1	HIS	ARG	628	607839.0013	GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR
chr3	81668780	81668781	GBE1	GLU	TER	592	607839.0011	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR
chr3	81668912	81668915	GBE1	TRP	TER	548	607839.0018	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR
chr3	81668920	81668921	GBE1	HIS	ARG	545	607839.0010	GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
chr3	81709812	81709813	GBE1	ARG	GLN	524	607839.0007	GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC ADULT POLYGLUCOSAN BODY DISEASE, INCLUDED
chr3	81709813	81709814	GBE1	ARG	TER	524	607839.0006	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR, INCLUDED
chr3	81709840	81709841	GBE1	ARG	CYS	515	607839.0004	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC ADULT POLYGLUCOSAN BODY DISEASE, INCLUDED
chr3	81774627	81774628	GBE1	TYR	SER	329	607839.0002	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC ADULT POLYGLUCOSAN BODY DISEASE, INCLUDED
chr3	81774829	81774830	GBE1	ARG	CYS	262	607839.0016	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR
chr3	81778245	81778248	GBE1	PHE	LEU	257	607839.0005	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC
chr3	81778306	81778307	GBE1	GLN	HIS	236	607839.0015	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR
chr3	87385260	87385261	CHMP2B	ASP	TYR	148	609512.0002	FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
chr3	87385311	87385312	CHMP2B	GLN	TER	165	609512.0004	FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
chr3	87385637	87385638	CHMP2B	GLN	HIS	206	609512.0003	AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED
chr3	87391798	87391799	POU1F1	ARG	TRP	271	173110.0002	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87391861	87391862	POU1F1	GLU	TER	250	173110.0006	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87391894	87391895	POU1F1	PRO	SER	239	173110.0008	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87391921	87391922	POU1F1	GLU	LYS	230	173110.0012	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87393937	87393938	POU1F1	TRP	ARG	193	173110.0010	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87393979	87393982	POU1F1	SER	ARG	179	173110.0015	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87393999	87394000	POU1F1	ARG	GLN	172	173110.0013	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87394000	87394001	POU1F1	ARG	TER	172	173110.0001	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87394042	87394043	POU1F1	ALA	PRO	158	173110.0003	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87396133	87396134	POU1F1	LYS	TER	145	173110.0011	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87396138	87396139	POU1F1	ARG	GLN	143	173110.0005	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87396162	87396163	POU1F1	PHE	CYS	135	173110.0007	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	87408231	87408232	POU1F1	PRO	LEU	24	173110.0004	PITUITARY HORMONE DEFICIENCY, COMBINED, 1
chr3	95205297	95205298	ARL13B	ARG	GLN	79	608922.0001	JOUBERT SYNDROME 8
chr3	95205305	95205308	ARL13B	TRP	TER	82	608922.0002	JOUBERT SYNDROME 8
chr3	95238196	95238197	ARL13B	ARG	CYS	200	608922.0003	JOUBERT SYNDROME 8
chr3	98969732	98969733	ARL6	THR	MET	31	608845.0003	BARDET-BIEDL SYNDROME 3
chr3	98969732	98969733	ARL6	THR	ARG	31	608845.0005	BARDET-BIEDL SYNDROME 3
chr3	98989537	98989538	ARL6	ARG	TER	122	608845.0001	BARDET-BIEDL SYNDROME 3
chr3	98993330	98993331	ARL6	GLY	ALA	169	608845.0002	BARDET-BIEDL SYNDROME 3 BARDET-BIEDL SYNDROME 1, MODIFIER OF, INCLUDED
chr3	98993333	98993334	ARL6	LEU	TRP	170	608845.0004	BARDET-BIEDL SYNDROME 3
chr3	99782242	99782243	CPOX	ARG	CYS	447	612732.0009	COPROPORPHYRIA
chr3	99783007	99783008	CPOX	LYS	GLU	404	612732.0003	HARDEROPORPHYRIA
chr3	99787155	99787156	CPOX	ARG	TRP	331	612732.0001	COPROPORPHYRIA
chr3	99787164	99787165	CPOX	ARG	CYS	328	612732.0011	COPROPORPHYRIA
chr3	99790316	99790317	CPOX	HIS	ASP	295	612732.0006	COPROPORPHYRIA
chr3	99790364	99790365	CPOX	GLY	ARG	279	612732.0013	COPROPORPHYRIA, DIGENIC
chr3	99792622	99792623	CPOX	SER	PHE	208	612732.0010	COPROPORPHYRIA
chr3	99794953	99794954	CPOX	GLN	TER	29	612732.0008	COPROPORPHYRIA
chr3	112786898	112786899	CD96	THR	MET	280	606037.0002	C-LIKE SYNDROME
chr3	121834759	121834760	HGD	HIS	ARG	371	607474.0008	ALKAPTONURIA
chr3	121834769	121834770	HGD	MET	VAL	368	607474.0009	ALKAPTONURIA
chr3	121840007	121840008	HGD	ARG	SER	330	607474.0007	ALKAPTONURIA
chr3	121840098	121840099	HGD	VAL	GLY	300	607474.0002	ALKAPTONURIA
chr3	121843196	121843197	HGD	GLY	ARG	270	607474.0011	ALKAPTONURIA
chr3	121845941	121845942	HGD	PRO	SER	230	607474.0001	ALKAPTONURIA
chr3	121848577	121848578	HGD	GLY	ARG	161	607474.0003	ALKAPTONURIA
chr3	122983308	122983309	IQCB1	ARG	TER	461	609237.0001	SENIOR-LOKEN SYNDROME 5
chr3	122991669	122991670	IQCB1	GLN	TER	357	609237.0005	SENIOR-LOKEN SYNDROME 5
chr3	123455763	123455764	CASR	LEU	PRO	13	601199.0044	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL
chr3	123455866	123455867	CASR	LYS	ASN	47	601199.0028	HYPOCALCEMIA, AUTOSOMAL DOMINANT
chr3	123458711	123458712	CASR	GLY	TER	94	601199.0042	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
chr3	123458777	123458778	CASR	ALA	THR	116	601199.0010	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123458785	123458786	CASR	ASN	LYS	118	601199.0013	HYPOPARATHYROIDISM, FAMILIAL ISOLATED HYPOPARATHYROIDISM, SPORADIC, INCLUDED
chr3	123458805	123458806	CASR	LEU	PRO	125	601199.0037	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL
chr3	123458813	123458816	CASR	PHE	LEU	128	601199.0014	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123458883	123458884	CASR	THR	MET	151	601199.0012	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123463110	123463111	CASR	PHE	CYS	180	601199.0046	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL
chr3	123463124	123463125	CASR	ARG	TER	185	601199.0036	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
chr3	123463125	123463126	CASR	ARG	GLN	185	601199.0003	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL HYPERPARATHYROIDISM, NEONATAL SEVERE, INCLUDED
chr3	123463142	123463143	CASR	GLU	LYS	191	601199.0016	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123463251	123463252	CASR	ARG	LEU	227	601199.0006	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
chr3	123463251	123463252	CASR	ARG	GLN	227	601199.0049	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL
chr3	123477364	123477365	CASR	ARG	GLN	465	601199.0043	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL
chr3	123483697	123483698	CASR	GLY	ARG	553	601199.0048	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL
chr3	123485235	123485236	CASR	CYS	TYR	582	601199.0007	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
chr3	123485235	123485236	CASR	CYS	PHE	582	601199.0047	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL
chr3	123485300	123485301	CASR	GLU	LYS	604	601199.0041	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123485325	123485326	CASR	PHE	SER	612	601199.0017	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123485336	123485337	CASR	LEU	VAL	616	601199.0029	HYPOPARATHYROIDISM, FAMILIAL
chr3	123485432	123485433	CASR	ARG	TER	648	601199.0032	HYPOCALCIURIC HYPERCALCEMIA HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY, INCLUDED
chr3	123485499	123485500	CASR	GLY	GLU	670	601199.0020	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
chr3	123485670	123485671	CASR	LEU	GLN	727	601199.0045	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123485808	123485809	CASR	LEU	ARG	773	601199.0019	HYPOPARATHYROIDISM, SPORADIC
chr3	123485852	123485855	CASR	PHE	LEU	788	601199.0039	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123485853	123485854	CASR	PHE	CYS	788	601199.0027	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123485907	123485908	CASR	PHE	SER	806	601199.0011	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123485949	123485950	CASR	SER	PHE	820	601199.0038	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr3	123486018	123486019	CASR	ALA	GLU	843	601199.0034	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME HYPOPARATHYROIDISM, FAMILIAL ISOLATED, INCLUDED
chr3	123486131	123486134	CASR	PHE	LEU	881	601199.0031	HYPERCALCIURIC HYPERCALCEMIA
chr3	123486183	123486184	CASR	ARG	GLN	898	601199.0050	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
chr3	123486446	123486447	CASR	ALA	SER	986	601199.0040	CALCIUM, SERUM LEVEL OF
chr3	125936758	125936759	UMPS	ARG	GLY	96	258900.0001	OROTIC ACIDURIA
chr3	125939119	125939120	UMPS	VAL	GLY	109	258900.0002	OROTIC ACIDURIA
chr3	125945462	125945463	UMPS	GLY	ARG	429	258900.0001	OROTIC ACIDURIA
chr3	127699673	127699674	UROC1	ARG	CYS	450	613012.0001	UROCANASE DEFICIENCY
chr3	127712244	127712245	UROC1	LEU	PRO	70	613012.0002	UROCANASE DEFICIENCY
chr3	130263291	130263292	GP9	LEU	PRO	7	173515.0006	BERNARD-SOULIER SYNDROME, TYPE C
chr3	130730309	130730310	RHO	ASN	SER	15	180380.0029	RETINITIS PIGMENTOSA 4
chr3	130730315	130730316	RHO	THR	MET	17	180380.0006	RETINITIS PIGMENTOSA 4
chr3	130730332	130730333	RHO	PRO	ALA	23	180380.0043	RETINITIS PIGMENTOSA 4
chr3	130730333	130730334	RHO	PRO	HIS	23	180380.0001	RETINITIS PIGMENTOSA 4
chr3	130730398	130730401	RHO	PHE	LEU	45	180380.0007	RETINITIS PIGMENTOSA 4
chr3	130730416	130730417	RHO	GLY	ARG	51	180380.0034	RETINITIS PIGMENTOSA 4
chr3	130730423	130730424	RHO	PRO	ARG	53	180380.0024	RETINITIS PIGMENTOSA 4
chr3	130730438	130730439	RHO	THR	ARG	58	180380.0004	RETINITIS PIGMENTOSA 4
chr3	130730525	130730526	RHO	VAL	ASP	87	180380.0008	RETINITIS PIGMENTOSA 4
chr3	130730531	130730532	RHO	GLY	ASP	89	180380.0009	RETINITIS PIGMENTOSA 4
chr3	130730534	130730535	RHO	GLY	ASP	90	180380.0032	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
chr3	130730546	130730547	RHO	THR	ILE	94	180380.0042	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
chr3	130730581	130730582	RHO	GLY	TRP	106	180380.0010	RETINITIS PIGMENTOSA 4
chr3	130730581	130730582	RHO	GLY	ARG	106	180380.0025	RETINITIS PIGMENTOSA 4
chr3	130730594	130730595	RHO	CYS	TYR	110	180380.0035	RETINITIS PIGMENTOSA 4
chr3	130730606	130730607	RHO	GLY	ASP	114	180380.0036	RETINITIS PIGMENTOSA 4
chr3	130732449	130732450	RHO	ARG	TRP	135	180380.0012	RETINITIS PIGMENTOSA 4 RETINITIS PUNCTATA ALBESCENS, INCLUDED
chr3	130732450	130732451	RHO	ARG	LEU	135	180380.0011	RETINITIS PIGMENTOSA 4
chr3	130732494	130732495	RHO	GLU	LYS	150	180380.0033	RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE
chr3	130732537	130732538	RHO	ALA	GLU	164	180380.0037	RETINITIS PIGMENTOSA 4
chr3	130732557	130732558	RHO	PRO	SER	171	180380.0038	RETINITIS PIGMENTOSA 4
chr3	130733785	130733786	RHO	TYR	CYS	178	180380.0013	RETINITIS PIGMENTOSA 4
chr3	130733796	130733797	RHO	GLY	SER	182	180380.0021	RETINITIS PIGMENTOSA 4
chr3	130733820	130733821	RHO	ASP	ASN	190	180380.0017	RETINITIS PIGMENTOSA 4
chr3	130733820	130733821	RHO	ASP	TYR	190	180380.0027	RETINITIS PIGMENTOSA 4
chr3	130733821	130733822	RHO	ASP	GLY	190	180380.0014	RETINITIS PIGMENTOSA 4
chr3	130733872	130733873	RHO	MET	ARG	207	180380.0030	RETINITIS PIGMENTOSA 4
chr3	130733884	130733885	RHO	HIS	PRO	211	180380.0018	RETINITIS PIGMENTOSA 4
chr3	130734113	130734114	RHO	GLU	TER	249	180380.0023	RETINITIS PIGMENTOSA 4
chr3	130734168	130734169	RHO	PRO	LEU	267	180380.0022	RETINITIS PIGMENTOSA 4
chr3	130734243	130734244	RHO	ALA	GLU	292	180380.0031	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
chr3	130734254	130734255	RHO	LYS	GLU	296	180380.0016	RETINITIS PIGMENTOSA 4
chr3	130735233	130735234	RHO	GLN	TER	344	180380.0015	RETINITIS PIGMENTOSA 4
chr3	130735236	130735237	RHO	VAL	LEU	345	180380.0040	RETINITIS PIGMENTOSA 4
chr3	130735236	130735237	RHO	VAL	MET	345	180380.0044	RETINITIS PIGMENTOSA 4
chr3	130735242	130735243	RHO	PRO	SER	347	180380.0003	RETINITIS PIGMENTOSA 4
chr3	130735243	130735244	RHO	PRO	LEU	347	180380.0002	RETINITIS PIGMENTOSA 4
chr3	130735243	130735244	RHO	PRO	ARG	347	180380.0020	RETINITIS PIGMENTOSA 4
chr3	130735243	130735244	RHO	PRO	GLN	347	180380.0041	RETINITIS PIGMENTOSA 4
chr3	132165514	132165515	ATP2C1	ALA	THR	304	604384.0002	HAILEY-HAILEY DISEASE
chr3	132170918	132170919	ATP2C1	ARG	TER	468	604384.0003	HAILEY-HAILEY DISEASE
chr3	132176920	132176921	ATP2C1	CYS	PHE	490	604384.0006	HAILEY-HAILEY DISEASE
chr3	132182124	132182125	ATP2C1	LEU	PRO	584	604384.0008	HAILEY-HAILEY DISEASE
chr3	133886317	133886318	NPHP3	GLN	TER	1114	608002.0007	RENAL-HEPATIC-PANCREATIC DYSPLASIA
chr3	133890390	133890391	NPHP3	ARG	GLN	973	608002.0006	RENAL-HEPATIC-PANCREATIC DYSPLASIA
chr3	133901881	133901882	NPHP3	ARG	TER	577	608002.0005	RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST
chr3	133905874	133905875	NPHP3	GLU	TER	461	608002.0003	NEPHRONOPHTHISIS 3
chr3	133914698	133914699	NPHP3	SER	THR	360	608002.0002	NEPHRONOPHTHISIS 3
chr3	134651965	134651966	BFSP2	ARG	TRP	287	603212.0001	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1
chr3	134955140	134955141	TF	ASP	ASN	77	190000.0010	ATRANSFERRINEMIA
chr3	134958501	134958502	TF	GLY	SER	277	190000.0008	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
chr3	134958502	134958503	TF	GLY	ASP	277	190000.0001	TRANSFERRIN VARIANT D1
chr3	134967909	134967910	TF	ALA	PRO	477	190000.0007	ATRANSFERRINEMIA
chr3	137463555	137463556	PCCB	GLU	LYS	168	232050.0005	PROPIONIC ACIDEMIA
chr3	137528770	137528771	PCCB	THR	ILE	428	232050.0006	PROPIONIC ACIDEMIA
chr3	137529169	137529170	PCCB	TYR	CYS	435	232050.0008	PROPIONIC ACIDEMIA
chr3	140147432	140147433	FOXL2	TYR	TER	274	605597.0009	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II, INCLUDED
chr3	140147482	140147483	FOXL2	TYR	ASN	258	605597.0017	PREMATURE OVARIAN FAILURE 3
chr3	140147599	140147600	FOXL2	GLN	TER	219	605597.0001	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
chr3	140147668	140147669	FOXL2	GLN	TER	196	605597.0013	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
chr3	140147694	140147695	FOXL2	GLY	ASP	187	605597.0019	PREMATURE OVARIAN FAILURE 3
chr3	140148003	140148004	FOXL2	ILE	SER	84	605597.0011	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
chr3	140148097	140148098	FOXL2	GLN	TER	53	605597.0008	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
chr3	140551714	140551715	MRPS22	ARG	HIS	170	605810.0001	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
chr3	144695232	144695233	SLC9A9	ARG	TER	423	608396.0001	AUTISM AND EPILEPSY
chr3	147271862	147271863	PLOD2	THR	ILE	608	601865.0001	BRUCK SYNDROME 2
chr3	147271883	147271884	PLOD2	GLY	VAL	601	601865.0002	BRUCK SYNDROME 2
chr3	147271892	147271893	PLOD2	ARG	HIS	598	601865.0003	BRUCK SYNDROME 2
chr3	149942356	149942357	AGTR1	THR	MET	282	106165.0004	RENAL TUBULAR DYSGENESIS
chr3	152538530	152538531	P2RY12	ARG	TRP	265	600515.0003	BLEEDING DISORDER DUE TO P2RY12 DEFECT
chr3	152538556	152538557	P2RY12	ARG	GLN	256	600515.0002	BLEEDING DISORDER DUE TO P2RY12 DEFECT
chr3	157054143	157054146	SLC33A1	SER	ARG	113	603690.0001	SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT
chr3	159846168	159846169	GFM1	ARG	TER	47	606639.0002	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
chr3	159847378	159847379	GFM1	ASN	SER	174	606639.0001	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
chr3	159865925	159865926	GFM1	MET	ARG	496	606639.0003	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
chr3	161469016	161469017	IFT80	ALA	PRO	701	611177.0003	ASPHYXIATING THORACIC DYSTROPHY 2
chr3	161577966	161577967	IFT80	HIS	GLN	105	611177.0001	ASPHYXIATING THORACIC DYSTROPHY 2
chr3	166183496	166183497	SI	PHE	CYS	1745	609845.0006	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
chr3	166218102	166218103	SI	CYS	TYR	1229	609845.0005	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
chr3	166220213	166220214	SI	GLN	PRO	1098	609845.0001	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
chr3	166221746	166221747	SI	GLY	ASP	1073	609845.0008	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
chr3	166247350	166247351	SI	LEU	PRO	620	609845.0004	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
chr3	166247479	166247480	SI	VAL	GLY	577	609845.0007	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
chr3	166269582	166269583	SI	GLN	ARG	117	609845.0003	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
chr3	167030511	167030512	BCHE	LEU	PRO	335	177400.0014	BUTYRYLCHOLINESTERASE DEFICIENCY
chr3	172198781	172198782	SLC2A2	VAL	GLU	423	138160.0012	FANCONI-BICKEL SYNDROME
chr3	172198791	172198794	SLC2A2	TRP	TER	420	138160.0006	FANCONI-BICKEL SYNDROME
chr3	172198799	172198800	SLC2A2	PRO	LEU	417	138160.0005	FANCONI-BICKEL SYNDROME
chr3	172199551	172199552	SLC2A2	LEU	PRO	389	138160.0015	FANCONI-BICKEL SYNDROME
chr3	172199624	172199625	SLC2A2	ARG	TER	365	138160.0003	FANCONI-BICKEL SYNDROME
chr3	172205829	172205830	SLC2A2	ARG	TER	301	138160.0004	FANCONI-BICKEL SYNDROME
chr3	172205871	172205872	SLC2A2	GLN	TER	287	138160.0014	FANCONI-BICKEL SYNDROME
chr3	172207653	172207654	SLC2A2	VAL	ILE	197	138160.0001	DIABETES MELLITUS, NONINSULIN-DEPENDENT
chr3	173648188	173648189	GHSR	ARG	TRP	237	601898.0003	SHORT STATURE, IDIOPATHIC, AUTOSOMAL
chr3	173648286	173648287	GHSR	ALA	GLU	204	601898.0001	SHORT STATURE, IDIOPATHIC, AUTOSOMAL
chr3	173648893	173648896	GHSR	TRP	TER	2	601898.0002	SHORT STATURE, IDIOPATHIC, AUTOSOMAL
chr3	174219969	174219970	SPATA16	ARG	GLN	283	609856.0001	GLOBOZOOSPERMIA
chr3	180418784	180418785	PIK3CA	GLU	LYS	545	171834.0003	BREAST CANCER, SOMATIC OVARIAN CANCER, EPITHELIAL, SOMATIC, INCLUDED
chr3	180418784	180418785	PIK3CA	GLU	LYS	545	171834.0003	 COLORECTAL CANCER, SOMATIC, INCLUDED
chr3	180418784	180418785	PIK3CA	GLU	LYS	545	171834.0003	 GASTRIC CANCER, SOMATIC, INCLUDED
chr3	180418784	180418785	PIK3CA	GLU	LYS	545	171834.0003	 KERATOSIS, SEBORRHEIC, SOMATIC, INCLUDED
chr3	180418784	180418785	PIK3CA	GLU	LYS	545	171834.0003	 NONSMALL CELL LUNG CANCER, SOMATIC, INCLUDED
chr3	180418785	180418786	PIK3CA	GLU	GLY	545	171834.0004	COLORECTAL CANCER, SOMATIC NEVUS, EPIDERMAL, SOMATIC, INCLUDED
chr3	180418785	180418786	PIK3CA	GLU	ALA	545	171834.0008	HEPATOCELLULAR CARCINOMA, SOMATIC
chr3	180418787	180418788	PIK3CA	GLN	LYS	546	171834.0005	OVARIAN CANCER, EPITHELIAL, SOMATIC COLORECTAL CANCER, SOMATIC, INCLUDED
chr3	180418787	180418788	PIK3CA	GLN	GLU	546	171834.0006	BREAST CANCER, SOMATIC
chr3	180434778	180434779	PIK3CA	HIS	ARG	1047	171834.0001	BREAST CANCER, SOMATIC OVARIAN CANCER, EPITHELIAL, SOMATIC, INCLUDED
chr3	180434778	180434779	PIK3CA	HIS	ARG	1047	171834.0001	 COLORECTAL CANCER, SOMATIC, INCLUDED
chr3	180434778	180434779	PIK3CA	HIS	ARG	1047	171834.0001	 GASTRIC CANCER, SOMATIC, INCLUDED
chr3	180434778	180434779	PIK3CA	HIS	ARG	1047	171834.0001	 HEPATOCELLULAR CARCINOMA, SOMATIC, INCLUDED
chr3	180434778	180434779	PIK3CA	HIS	ARG	1047	171834.0001	 KERATOSIS, SEBORRHEIC, SOMATIC, INCLUDED
chr3	180434778	180434779	PIK3CA	HIS	ARG	1047	171834.0001	 NONSMALL CELL LUNG CANCER, SOMATIC, INCLUDED
chr3	180434778	180434779	PIK3CA	HIS	LEU	1047	171834.0002	BREAST CANCER, SOMATIC
chr3	182912979	182912980	SOX2	ASN	LYS	46	184429.0009	MICROPHTHALMIA, SYNDROMIC 3
chr3	182913004	182913005	SOX2	GLN	TER	55	184429.0007	MICROPHTHALMIA, SYNDROMIC 3
chr3	182913062	182913063	SOX2	ARG	PRO	74	184429.0008	MICROPHTHALMIA, SYNDROMIC 3
chr3	182913089	182913090	SOX2	SER	TER	83	184429.0003	MICROPHTHALMIA, SYNDROMIC 3
chr3	182913118	182913119	SOX2	GLU	TER	93	184429.0002	MICROPHTHALMIA, SYNDROMIC 3
chr3	182913131	182913132	SOX2	LEU	PRO	97	184429.0004	MICROPHTHALMIA, SYNDROMIC 3
chr3	182913230	182913231	SOX2	GLY	ALA	130	184429.0012	OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM
chr3	182913304	182913305	SOX2	GLN	TER	155	184429.0005	MICROPHTHALMIA, SYNDROMIC 3
chr3	182913370	182913371	SOX2	GLN	TER	177	184429.0001	MICROPHTHALMIA, SYNDROMIC 3
chr3	182913412	182913413	SOX2	ALA	THR	191	184429.0013	OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM
chr3	184234549	184234550	MCCC1	SER	PHE	535	609010.0005	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
chr3	184234549	184234550	MCCC1	VAL	TER	694	609010.0006	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
chr3	184237699	184237700	MCCC1	ASP	HIS	532	609010.0003	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
chr3	184237913	184237914	MCCC1	ILE	MET	460	609010.0007	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
chr3	184239574	184239575	MCCC1	LEU	PRO	437	609010.0004	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
chr3	184242160	184242161	MCCC1	ARG	SER	385	609010.0002	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
chr3	184246003	184246004	MCCC1	MET	ARG	325	609010.0001	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
chr3	185336032	185336033	EIF2B5	PHE	VAL	56	603945.0010	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr3	185336033	185336034	EIF2B5	PHE	CYS	56	603945.0011	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr3	185337168	185337169	EIF2B5	THR	ALA	91	603945.0001	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr3	185338118	185338119	EIF2B5	ARG	HIS	113	603945.0004	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER OVARIOLEUKODYSTROPHY, INCLUDED
chr3	185338417	185338418	EIF2B5	THR	MET	182	603945.0008	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr3	185338455	185338456	EIF2B5	ARG	CYS	195	603945.0007	OVARIOLEUKODYSTROPHY
chr3	185338456	185338457	EIF2B5	ARG	HIS	195	603945.0005	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr3	185340999	185341000	EIF2B5	ARG	HIS	315	603945.0009	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr3	185341212	185341213	EIF2B5	GLY	VAL	386	603945.0003	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr3	185344592	185344593	EIF2B5	TRP	ARG	628	603945.0002	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr3	185445772	185445773	ALG3	ARG	GLN	171	608750.0003	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
chr3	185445814	185445815	ALG3	MET	LYS	157	608750.0005	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
chr3	185446040	185446041	ALG3	GLY	ASP	118	608750.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
chr3	185446279	185446280	ALG3	TRP	ARG	71	608750.0004	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
chr3	185553513	185553514	CLCN2	GLY	GLU	715	600570.0003	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
chr3	185554268	185554269	CLCN2	ARG	GLN	577	600570.0005	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
chr3	185558169	185558170	CLCN2	ARG	GLN	235	600570.0004	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
chr3	187740048	187740049	CRYGS	GLY	VAL	18	123730.0001	CATARACT, PROGRESSIVE POLYMORPHIC CORTICAL
chr3	187927740	187927741	KNG1	ARG	TER	196	612358.0001	KININOGEN DEFICIENCY, TOTAL
chr3	188054785	188054786	ADIPOQ	ARG	CYS	112	605441.0001	ADIPONECTIN DEFICIENCY
chr3	190939221	190939222	TP63	ARG	CYS	97	603273.0023	SPLIT-HAND/FOOT MALFORMATION 4
chr3	190939221	190939222	FLNB	SER	TER	2137	603381.0001	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
chr3	190990298	190990299	TP63	ASN	HIS	6	603273.0011	ADULT SYNDROME
chr3	191588813	191588814	CLDN16	MET	ARG	71	603959.0005	HYPOMAGNESEMIA, PRIMARY
chr3	191602843	191602846	CLDN16	TRP	TER	117	603959.0013	HYPOMAGNESEMIA, PRIMARY
chr3	191602843	191602846	CLDN16	LEU	PRO	151	603959.0014	HYPOMAGNESEMIA, PRIMARY
chr3	191605250	191605251	CLDN16	LEU	PRO	145	603959.0012	HYPOMAGNESEMIA, PRIMARY
chr3	191605261	191605262	CLDN16	ARG	TER	149	603959.0001	HYPOMAGNESEMIA, PRIMARY
chr3	191605268	191605269	CLDN16	LEU	TRP	151	603959.0011	HYPOMAGNESEMIA, PRIMARY
chr3	191605269	191605270	CLDN16	LEU	PHE	151	603959.0010	HYPOMAGNESEMIA, PRIMARY
chr3	191605316	191605317	CLDN16	LEU	PRO	167	603959.0006	HYPOMAGNESEMIA, PRIMARY
chr3	191605387	191605388	CLDN16	GLY	ARG	191	603959.0003	HYPOMAGNESEMIA, PRIMARY
chr3	191605409	191605410	CLDN16	GLY	ASP	198	603959.0004	HYPOMAGNESEMIA, PRIMARY
chr3	191608898	191608899	CLDN16	PHE	CYS	232	603959.0007	HYPOMAGNESEMIA, PRIMARY
chr3	191608901	191608902	CLDN16	GLY	ASP	233	603959.0008	HYPOMAGNESEMIA, PRIMARY
chr3	191608907	191608908	CLDN16	SER	PHE	235	603959.0009	HYPOMAGNESEMIA, PRIMARY
chr3	191608918	191608919	CLDN16	GLY	ARG	239	603959.0002	HYPOMAGNESEMIA, PRIMARY
chr3	194835925	194835926	OPA1	ARG	GLN	290	605290.0005	OPTIC ATROPHY 1
chr3	194837762	194837763	OPA1	ARG	GLN	290	605290.0005	OPTIC ATROPHY 1
chr3	194838462	194838463	OPA1	GLY	GLU	300	605290.0001	OPTIC ATROPHY 1
chr3	194843487	194843488	OPA1	ARG	TER	366	605290.0006	OPTIC ATROPHY 1
chr3	194844478	194844479	OPA1	ARG	HIS	445	605290.0011	OPTIC ATROPHY 1 WITH DEAFNESS OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY, INCLUDED
chr3	194848591	194848592	OPA1	TYR	CYS	582	605290.0013	OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY
chr3	199162511	199162512	RPL35A	VAL	ILE	33	180468.0001	DIAMOND-BLACKFAN ANEMIA 5
chr3	199165409	199165410	RPL35A	ARG	TER	102	180468.0003	DIAMOND-BLACKFAN ANEMIA 5
chr3_random	54427	54428	HGD	GLY	ARG	161	607474.0003	ALKAPTONURIA
chr3_random	57063	57064	HGD	PRO	SER	230	607474.0001	ALKAPTONURIA
chr3_random	59808	59809	HGD	GLY	ARG	270	607474.0011	ALKAPTONURIA
chr3_random	62906	62907	HGD	VAL	GLY	300	607474.0002	ALKAPTONURIA
chr3_random	62997	62998	HGD	ARG	SER	330	607474.0007	ALKAPTONURIA
chr3_random	68234	68235	HGD	MET	VAL	368	607474.0009	ALKAPTONURIA
chr3_random	68244	68245	HGD	HIS	ARG	371	607474.0008	ALKAPTONURIA
chr3_random	652482	652483	CCR2	VAL	ILE	64	601267.0001	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
chr3_random	667849	667850	CCR5	ARG	SER	60	601373.0008	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
chr3_random	667972	667973	CCR5	CYS	TER	101	601373.0005	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
chr3_random	668337	668338	CCR5	ARG	GLN	223	601373.0003	CCR5 POLYMORPHISM, ORIENTAL 2
chr3_random	668673	668674	CCR5	ALA	VAL	335	601373.0004	CCR5 POLYMORPHISM, AFRICAN-AMERICAN
chr4	637700	637701	PDE6B	HIS	ASN	258	180072.0005	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
chr4	637907	637908	PDE6B	GLN	TER	298	180072.0001	RETINITIS PIGMENTOSA 40
chr4	644378	644379	PDE6B	ARG	TER	531	180072.0002	RETINITIS PIGMENTOSA 40
chr4	645976	645977	PDE6B	HIS	TYR	557	180072.0004	RETINITIS PIGMENTOSA 40
chr4	651710	651711	PDE6B	TRP	ARG	807	180072.0007	RETINITIS PIGMENTOSA 40
chr4	971629	971630	IDUA	TYR	TER	64	252800.0006	HURLER SYNDROME
chr4	971645	971646	IDUA	GLN	TER	70	252800.0002	HURLER SYNDROME
chr4	971703	971704	IDUA	ARG	GLN	89	252800.0015	HURLER-SCHEIE SYNDROME
chr4	985874	985875	IDUA	ALA	THR	300	252800.0016	IDUA PSEUDODEFICIENCY
chr4	985904	985905	IDUA	GLN	TER	310	252800.0007	HURLER SYNDROME
chr4	986120	986121	IDUA	LEU	ARG	346	252800.0020	HURLER-SCHEIE SYNDROME HURLER SYNDROME, INCLUDED
chr4	986174	986175	IDUA	THR	MET	364	252800.0018	HURLER-SCHEIE SYNDROME
chr4	986179	986180	IDUA	THR	PRO	366	252800.0008	HURLER SYNDROME
chr4	986533	986536	IDUA	TRP	TER	402	252800.0001	HURLER SYNDROME
chr4	986554	986555	IDUA	GLY	ARG	409	252800.0005	HURLER SYNDROME
chr4	986889	986890	IDUA	LEU	PRO	490	252800.0012	HURLER-SCHEIE SYNDROME
chr4	986895	986896	IDUA	ARG	PRO	492	252800.0011	SCHEIE SYNDROME
chr4	987205	987206	IDUA	PRO	ARG	533	252800.0003	HURLER SYNDROME
chr4	988073	988074	IDUA	ARG	GLY	619	252800.0017	HURLER-SCHEIE SYNDROME
chr4	988079	988080	IDUA	ARG	TER	621	252800.0010	HURLER SYNDROME
chr4	988178	988179	IDUA	TER	GLY	654	252800.0013	HURLER-SCHEIE SYNDROME
chr4	988180	988181	IDUA	TER	CYS	654	252800.0005	HURLER SYNDROME
chr4	1770919	1770920	FGFR3	SER	LEU	84	134934.0032	HYPOCHONDROPLASIA
chr4	1773361	1773362	FGFR3	ARG	CYS	248	134934.0005	 NEVUS, EPIDERMAL, INCLUDED
chr4	1773361	1773362	FGFR3	ARG	CYS	248	134934.0005	 SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS, INCLUDED
chr4	1773361	1773362	FGFR3	ARG	CYS	248	134934.0005	THANATOPHORIC DYSPLASIA, TYPE I MULTIPLE MYELOMA, SOMATIC, INCLUDED
chr4	1773365	1773366	FGFR3	SER	CYS	249	134934.0013	 BLADDER CANCER, SOMATIC, INCLUDED
chr4	1773365	1773366	FGFR3	SER	CYS	249	134934.0013	THANATOPHORIC DYSPLASIA, TYPE I CERVICAL CANCER, SOMATIC, INCLUDED
chr4	1773368	1773369	FGFR3	PRO	ARG	250	134934.0014	 BEARE-STEVENSON SYNDROME-LIKE ANOMALIES, INCLUDED
chr4	1773368	1773369	FGFR3	PRO	ARG	250	134934.0014	MUENKE SYNDROME SAETHRE-CHOTZEN SYNDROME, INCLUDED
chr4	1773452	1773453	FGFR3	TYR	CYS	278	134934.0031	HYPOCHONDROPLASIA
chr4	1773454	1773455	FGFR3	SER	CYS	279	134934.0030	ACHONDROPLASIA HYPOCHONDROPLASIA, INCLUDED
chr4	1775249	1775250	FGFR3	GLU	LYS	322	134934.0025	COLORECTAL CANCER, SOMATIC
chr4	1775886	1775887	FGFR3	GLY	CYS	370	134934.0033	THANATOPHORIC DYSPLASIA, TYPE I NEVUS, EPIDERMAL, INCLUDED
chr4	1775889	1775890	FGFR3	SER	CYS	371	134934.0006	THANATOPHORIC DYSPLASIA, TYPE I
chr4	1775896	1775897	FGFR3	TYR	CYS	373	134934.0016	THANATOPHORIC DYSPLASIA, TYPE I
chr4	1775901	1775902	FGFR3	GLY	CYS	375	134934.0003	ACHONDROPLASIA
chr4	1775908	1775909	FGFR3	LEU	ARG	377	134934.0027	ACHONDROPLASIA
chr4	1775916	1775917	FGFR3	GLY	ARG	380	134934.0001	ACHONDROPLASIA NEVUS, EPIDERMAL, INCLUDED
chr4	1775916	1775917	FGFR3	GLY	ARG	380	134934.0002	ACHONDROPLASIA
chr4	1775916	1775917	FGFR3	GLY	ARG	380	134934.0027	ACHONDROPLASIA
chr4	1775950	1775951	FGFR3	ALA	GLU	391	134934.0011	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
chr4	1777085	1777086	FGFR3	ASP	ASN	513	134934.0028	LADD SYNDROME
chr4	1777160	1777161	FGFR3	ILE	VAL	538	134934.0019	HYPOCHONDROPLASIA
chr4	1777167	1777168	FGFR3	ASN	THR	540	134934.0018	HYPOCHONDROPLASIA
chr4	1777167	1777168	FGFR3	ASN	SER	540	134934.0023	HYPOCHONDROPLASIA
chr4	1777168	1777169	FGFR3	ASN	LYS	540	134934.0010	HYPOCHONDROPLASIA
chr4	1777168	1777169	FGFR3	ASN	LYS	540	134934.0012	HYPOCHONDROPLASIA
chr4	1777600	1777601	FGFR3	ARG	HIS	621	134934.0029	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
chr4	1777686	1777687	FGFR3	LYS	GLU	650	134934.0004	 SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED
chr4	1777686	1777687	FGFR3	LYS	GLU	650	134934.0004	THANATOPHORIC DYSPLASIA, TYPE II MULTIPLE MYELOMA, SOMATIC, INCLUDED
chr4	1777686	1777687	FGFR3	LYS	GLN	650	134934.0022	HYPOCHONDROPLASIA
chr4	1777686	1777687	FGFR3	LYS	GLN	652	134934.0024	HYPOCHONDROPLASIA BLADDER CANCER, SOMATIC, INCLUDED
chr4	1777687	1777688	FGFR3	LYS	MET	650	134934.0015	SADDAN DYSPLASIA THANATOPHORIC DYSPLASIA, TYPE I, INCLUDED
chr4	1777688	1777689	FGFR3	LYS	ASN	650	134934.0020	HYPOCHONDROPLASIA
chr4	1777688	1777689	FGFR3	LYS	ASN	650	134934.0021	HYPOCHONDROPLASIA
chr4	1778784	1778785	FGFR3	TER	GLY	807	134934.0007	THANATOPHORIC DYSPLASIA, TYPE I
chr4	1778784	1778785	FGFR3	TER	ARG	807	134934.0008	THANATOPHORIC DYSPLASIA, TYPE I
chr4	1778786	1778787	FGFR3	TER	CYS	807	134934.0009	THANATOPHORIC DYSPLASIA, TYPE I
chr4	2803097	2803098	SH3BP2	ARG	PRO	415	602104.0004	CHERUBISM
chr4	2803097	2803098	SH3BP2	ARG	GLN	415	602104.0005	CHERUBISM
chr4	2803106	2803107	SH3BP2	PRO	LEU	418	602104.0001	CHERUBISM
chr4	2803106	2803107	SH3BP2	PRO	ARG	418	602104.0002	CHERUBISM
chr4	2803106	2803107	SH3BP2	PRO	HIS	418	602104.0003	CHERUBISM
chr4	2803111	2803112	SH3BP2	GLY	ARG	420	602104.0006	CHERUBISM
chr4	2803112	2803113	SH3BP2	GLY	GLU	420	602104.0007	CHERUBISM
chr4	2876504	2876505	ADD1	GLY	TRP	460	102680.0001	HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO
chr4	3457069	3457070	DOK7	GLY	ALA	180	610285.0006	MYASTHENIA, LIMB-GIRDLE, FAMILIAL
chr4	3457131	3457132	DOK7	ARG	TER	201	610285.0007	MYASTHENIA, LIMB-GIRDLE, FAMILIAL
chr4	5628874	5628875	EVC2	GLN	TER	1009	607261.0007	ELLIS-VAN CREVELD SYNDROME
chr4	5637459	5637460	EVC2	ARG	TRP	870	607261.0008	ELLIS-VAN CREVELD SYNDROME
chr4	5681217	5681218	EVC2	GLN	TER	619	607261.0005	ELLIS-VAN CREVELD SYNDROME
chr4	5693416	5693417	EVC2	ARG	TER	399	607261.0004	ELLIS-VAN CREVELD SYNDROME
chr4	5733909	5733910	EVC2	ILE	ARG	283	607261.0006	ELLIS-VAN CREVELD SYNDROME
chr4	5797948	5797949	EVC	SER	PRO	307	604831.0006	WEYERS ACRODENTAL DYSOSTOSIS ELLIS-VAN CREVELD SYNDROME
chr4	5800853	5800854	EVC	ARG	TER	340	604831.0003	ELLIS-VAN CREVELD SYNDROME
chr4	5806424	5806425	EVC	ARG	GLN	443	604831.0005	ELLIS-VAN CREVELD SYNDROME
chr4	5860901	5860902	EVC	GLN	TER	879	604831.0002	ELLIS-VAN CREVELD SYNDROME
chr4	6344588	6344589	WFS1	GLN	TER	226	606201.0010	WOLFRAM SYNDROME
chr4	6353933	6353934	WFS1	PRO	LEU	504	606201.0006	WOLFRAM SYNDROME
chr4	6354323	6354324	WFS1	LYS	THR	634	606201.0018	DEAFNESS, AUTOSOMAL DOMINANT 6
chr4	6354364	6354367	WFS1	TRP	TER	648	606201.0005	WOLFRAM SYNDROME
chr4	6354506	6354507	WFS1	GLY	VAL	695	606201.0004	WOLFRAM SYNDROME
chr4	6354518	6354519	WFS1	THR	MET	699	606201.0016	DEAFNESS, AUTOSOMAL DOMINANT 6
chr4	6354568	6354569	WFS1	ALA	THR	716	606201.0014	DEAFNESS, AUTOSOMAL DOMINANT 6
chr4	6354593	6354594	WFS1	PRO	LEU	724	606201.0003	WOLFRAM SYNDROME
chr4	6354877	6354878	WFS1	GLN	TER	819	606201.0011	WOLFRAM SYNDROME
chr4	6354908	6354909	WFS1	LEU	PRO	829	606201.0015	DEAFNESS, AUTOSOMAL DOMINANT 6
chr4	6354914	6354915	WFS1	GLY	ASP	831	606201.0017	DEAFNESS, AUTOSOMAL DOMINANT 6
chr4	6354998	6354999	WFS1	ARG	GLN	859	606201.0023	DEAFNESS, AUTOSOMAL DOMINANT 6
chr4	6355012	6355013	WFS1	GLU	LYS	864	606201.0020	WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT
chr4	9498344	9498345	SLC2A9	PRO	ARG	412	606142.0006	HYPOURICEMIA, RENAL, 2
chr4	9501408	9501409	SLC2A9	ARG	TRP	380	606142.0004	HYPOURICEMIA, RENAL, 2
chr4	9591402	9591403	SLC2A9	ARG	CYS	198	606142.0005	HYPOURICEMIA, RENAL, 2
chr4	15169903	15169904	CC2D2A	ARG	TER	950	612013.0005	JOUBERT SYNDROME 9
chr4	15178472	15178473	CC2D2A	PRO	SER	1122	612013.0003	JOUBERT SYNDROME 9
chr4	15210334	15210335	CC2D2A	ARG	CYS	1528	612013.0004	JOUBERT SYNDROME 9
chr4	15210334	15210335	CC2D2A	ARG	CYS	1528	612013.0007	JOUBERT SYNDROME 9
chr4	15604748	15604749	PROM1	GLN	TER	576	604365.0002	RETINITIS PIGMENTOSA 41
chr4	15624019	15624020	PROM1	ARG	CYS	373	604365.0003	 CONE-ROD DYSTROPHY 12, INCLUDED
chr4	15624019	15624020	PROM1	ARG	CYS	373	604365.0003	STARGARDT DISEASE 4 MACULAR DYSTROPHY, RETINAL, 2, INCLUDED
chr4	17103048	17103049	QDPR	TYR	CYS	150	612676.0006	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
chr4	17112553	17112554	QDPR	TRP	GLY	108	612676.0003	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
chr4	17115126	17115129	QDPR	TRP	TER	90	612676.0007	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
chr4	17120083	17120084	QDPR	TRP	ARG	36	612676.0004	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
chr4	17122707	17122708	QDPR	GLY	ASP	23	612676.0002	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
chr4	25273537	25273538	SLC34A2	GLN	TER	76	604217.0003	PULMONARY ALVEOLAR MICROLITHIASIS
chr4	25274986	25274987	SLC34A2	GLY	ARG	106	604217.0004	PULMONARY ALVEOLAR MICROLITHIASIS
chr4	26092551	26092552	CCKAR	VAL	ILE	365	118444.0002	CHOLECYSTOKININ A RECEPTOR POLYMORPHISM
chr4	26100926	26100927	CCKAR	GLY	ARG	21	118444.0001	CHOLECYSTOKININ A RECEPTOR POLYMORPHISM
chr4	38476104	38476105	TLR1	ASN	SER	248	601194.0002	LEPROSY, SUSCEPTIBILITY TO, 5
chr4	40954389	40954390	UCHL1	SER	TYR	18	191342.0002	PARKINSON DISEASE, RESISTANCE TO
chr4	40957524	40957525	UCHL1	ILE	MET	93	191342.0001	PARKINSON DISEASE
chr4	41442935	41442936	PHOX2B	GLY	ASP	197	603851.0008	NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
chr4	41444130	41444131	PHOX2B	ARG	GLY	141	603851.0006	NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE
chr4	41444252	41444253	PHOX2B	ARG	LEU	100	603851.0005	NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
chr4	42590268	42590269	GRXCR1	GLN	TER	77	613283.0003	DEAFNESS, AUTOSOMAL RECESSIVE 25
chr4	42659692	42659693	GRXCR1	ARG	CYS	138	613283.0003	DEAFNESS, AUTOSOMAL RECESSIVE 25
chr4	47639988	47639989	CNGA1	LYS	TER	139	123825.0002	RETINITIS PIGMENTOSA 49
chr4	52589721	52589722	SGCB	TYR	TER	184	600900.0002	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
chr4	52589821	52589822	SGCB	THR	ARG	151	600900.0001	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
chr4	52590706	52590707	SGCB	LEU	ARG	108	600900.0006	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
chr4	52590730	52590731	SGCB	MET	LYS	100	600900.0007	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
chr4	52590757	52590758	SGCB	ARG	PRO	91	600900.0005	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
chr4	52590757	52590758	SGCB	ARG	LEU	91	600900.0008	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
chr4	54835774	54835775	PDGFRA	TYR	CYS	555	173490.0010	GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
chr4	54835792	54835793	PDGFRA	VAL	ASP	561	173490.0004	GASTROINTESTINAL STROMAL TUMOR, SOMATIC GASTROINTESTINAL STROMAL TUMOR, FAMILIAL, INCLUDED
chr4	54839303	54839304	PDGFRA	THR	ILE	674	173490.0008	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB
chr4	54846849	54846850	PDGFRA	ASP	VAL	842	173490.0001	GASTROINTESTINAL STROMAL TUMOR, SOMATIC
chr4	54846860	54846861	PDGFRA	ASP	TYR	846	173490.0009	GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
chr4	55288366	55288367	KIT	VAL	ASP	559	164920.0014	GASTROINTESTINAL STROMAL TUMOR, SOMATIC
chr4	55288366	55288367	KIT	VAL	ALA	559	164920.0023	GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
chr4	55288437	55288438	KIT	GLU	LYS	583	164920.0006	PIEBALDISM
chr4	55288440	55288443	KIT	PHE	LEU	584	164920.0003	PIEBALDISM
chr4	55288441	55288442	KIT	PHE	CYS	584	164920.0022	PIEBALDISM
chr4	55288977	55288978	KIT	LYS	GLU	642	164920.0024	GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
chr4	55289043	55289044	KIT	GLY	ARG	664	164920.0001	PIEBALDISM
chr4	55294016	55294017	KIT	ARG	GLY	796	164920.0016	PIEBALDISM WITH SENSORINEURAL DEAFNESS
chr4	55294076	55294077	KIT	ASP	TYR	816	164920.0018	LEUKEMIA, ACUTE MYELOID
chr4	55294076	55294077	KIT	ASP	HIS	816	164920.0021	GERM CELL TUMOR
chr4	55294077	55294078	KIT	ASP	VAL	816	164920.0009	MAST CELL LEUKEMIA MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, INCLUDED
chr4	55294077	55294078	KIT	ASP	VAL	816	164920.0009	 MASTOCYTOSIS, ADULT SPORADIC, INCLUDED
chr4	55294088	55294089	KIT	ASP	TYR	816	164920.0018	LEUKEMIA, ACUTE MYELOID
chr4	55294088	55294089	KIT	ASP	HIS	816	164920.0021	GERM CELL TUMOR
chr4	55294089	55294090	KIT	ASP	VAL	816	164920.0009	MAST CELL LEUKEMIA MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, INCLUDED
chr4	55294089	55294090	KIT	ASP	VAL	816	164920.0009	 MASTOCYTOSIS, ADULT SPORADIC, INCLUDED
chr4	55294089	55294090	KIT	ASP	GLY	820	164920.0010	MAST CELL DISEASE, SYSTEMIC
chr4	55297450	55297451	KIT	GLU	LYS	839	164920.0020	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET
chr4	55297474	55297475	KIT	THR	PRO	847	164920.0019	PIEBALDISM
chr4	55649862	55649863	KDR	PRO	SER	1147	191306.0001	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC
chr4	55667702	55667703	KDR	CYS	ARG	482	191306.0002	HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO
chr4	68288820	68288821	GNRHR	PRO	LEU	320	138850.0014	HYPOGONADOTROPIC HYPOGONADISM
chr4	68288820	68288821	MSX1	GLY	GLU	116	142983.0005	OROFACIAL CLEFT 5
chr4	68288838	68288839	GNRHR	LEU	TER	314	138850.0007	HYPOGONADOTROPIC HYPOGONADISM
chr4	68288928	68288929	GNRHR	TYR	CYS	284	138850.0003	HYPOGONADOTROPIC HYPOGONADISM
chr4	68288994	68288995	GNRHR	ARG	GLN	262	138850.0002	HYPOGONADOTROPIC HYPOGONADISM
chr4	68292973	68292976	GNRHR	SER	ARG	217	138850.0005	HYPOGONADOTROPIC HYPOGONADISM
chr4	68302137	68302138	GNRHR	ALA	THR	171	138850.0012	HYPOGONADOTROPIC HYPOGONADISM
chr4	68302146	68302149	GNRHR	SER	ARG	168	138850.0006	HYPOGONADOTROPIC HYPOGONADISM
chr4	68302232	68302233	GNRHR	ARG	HIS	139	138850.0008	HYPOGONADOTROPIC HYPOGONADISM
chr4	68302262	68302263	GNRHR	ALA	ASP	129	138850.0004	HYPOGONADOTROPIC HYPOGONADISM
chr4	68302331	68302332	GNRHR	GLN	ARG	106	138850.0001	HYPOGONADOTROPIC HYPOGONADISM FERTILE EUNUCH SYNDROME, INCLUDED
chr4	68302380	68302381	GNRHR	GLU	LYS	90	138850.0010	HYPOGONADOTROPIC HYPOGONADISM
chr4	68302617	68302618	GNRHR	GLN	LYS	11	138850.0013	HYPOGONADOTROPIC HYPOGONADISM
chr4	68302618	68302619	GNRHR	ASN	LYS	10	138850.0009	HYPOGONADOTROPIC HYPOGONADISM
chr4	68302618	68302619	GNRHR	ASN	LYS	10	138850.0013	HYPOGONADOTROPIC HYPOGONADISM
chr4	71716462	71716463	ENAM	LYS	TER	53	606585.0002	AMELOGENESIS IMPERFECTA, TYPE IB
chr4	72423913	72423914	SLC4A4	GLN	TER	29	603345.0003	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
chr4	72532286	72532287	SLC4A4	ARG	SER	298	603345.0001	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
chr4	72557308	72557309	SLC4A4	ARG	HIS	510	603345.0002	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
chr4	74493258	74493259	ALB	GLU	LYS	119	103600.0007	ALBUMIN NAGOYA
chr4	74498117	74498118	ALB	GLU	LYS	321	103600.0011	ALBUMIN ROMA
chr4	74499700	74499701	ALB	GLU	LYS	382	103600.0018	ALBUMIN HIROSHIMA 2
chr4	74499700	74499701	ALB	LEU	PRO	66	103600.0056	DYSALBUMINEMIC HYPERTHYROXINEMIA
chr4	74526934	74526937	AFP	TRP	TER	181	104150.0003	ALPHA-FETOPROTEIN DEFICIENCY
chr4	77314452	77314453	SCARB2	GLN	TER	288	602257.0003	ACTION MYOCLONUS-RENAL FAILURE SYNDROME
chr4	77319773	77319776	SCARB2	TRP	TER	178	602257.0004	ACTION MYOCLONUS-RENAL FAILURE SYNDROME
chr4	81124092	81124093	ANTXR2	TYR	CYS	381	608041.0002	JUVENILE HYALINE FIBROMATOSIS
chr4	81148753	81148754	ANTXR2	LEU	ARG	329	608041.0004	JUVENILE HYALINE FIBROMATOSIS
chr4	81176188	81176189	ANTXR2	GLU	TER	220	608041.0005	INFANTILE SYSTEMIC HYALINOSIS
chr4	81194519	81194520	ANTXR2	ILE	THR	189	608041.0006	INFANTILE SYSTEMIC HYALINOSIS
chr4	81196173	81196174	ANTXR2	GLY	ASP	105	608041.0003	JUVENILE HYALINE FIBROMATOSIS
chr4	84410058	84410059	COQ2	TYR	CYS	297	609825.0001	COENZYME Q10 DEFICIENCY
chr4	84413681	84413682	COQ2	ASN	SER	228	609825.0004	COENZYME Q10 DEFICIENCY
chr4	84413774	84413775	COQ2	ARG	HIS	197	609825.0003	COENZYME Q10 DEFICIENCY
chr4	84419257	84419258	COQ2	SER	ASN	146	609825.0005	COENZYME Q10 DEFICIENCY
chr4	88751127	88751128	DSPP	ALA	VAL	15	125485.0007	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
chr4	88751132	88751133	DSPP	PRO	THR	17	125485.0003	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1
chr4	88752280	88752281	DSPP	VAL	PHE	18	125485.0004	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, INCLUDED
chr4	88752280	88752281	DSPP	VAL	PHE	18	125485.0004	 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, INCLUDED
chr4	88752361	88752362	DSPP	GLN	TER	45	125485.0001	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
chr4	88752563	88752564	DSPP	ARG	TRP	68	125485.0006	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
chr4	88796668	88796669	DMP1	MET	VAL	1	600980.0003	HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
chr4	89183451	89183454	PKD2	TRP	TER	380	173910.0001	POLYCYSTIC KIDNEY DISEASE 2
chr4	89183526	89183527	PKD2	GLN	TER	405	173910.0003	POLYCYSTIC KIDNEY DISEASE 2
chr4	89186887	89186888	PKD2	ARG	TER	464	173910.0005	POLYCYSTIC KIDNEY DISEASE 2
chr4	89187029	89187030	PKD2	ASP	VAL	511	173910.0008	POLYCYSTIC KIDNEY DISEASE 2
chr4	89205654	89205655	PKD2	ARG	TER	742	173910.0002	POLYCYSTIC KIDNEY DISEASE 2
chr4	90968322	90968323	SNCA	ALA	THR	53	163890.0001	PARKINSON DISEASE 1
chr4	90968343	90968344	SNCA	GLU	LYS	46	163890.0004	DEMENTIA, LEWY BODY
chr4	90975753	90975754	SNCA	ALA	PRO	30	163890.0002	PARKINSON DISEASE 1
chr4	96270048	96270049	BMPR1B	ILE	LYS	200	603248.0001	BRACHYDACTYLY, TYPE A2
chr4	96294793	96294794	BMPR1B	ARG	TRP	486	603248.0002	BRACHYDACTYLY, TYPE A2
chr4	96294794	96294795	BMPR1B	ARG	GLN	486	603248.0004	BRACHYDACTYLY, TYPE 2A
chr4	100448039	100448040	ADH1B	ARG	CYS	370	103720.0002	ALCOHOL DEPENDENCE, PROTECTION AGAINST
chr4	100479811	100479812	ADH1C	ILE	VAL	350	103730.0002	ALCOHOL DEPENDENCE, PROTECTION AGAINST
chr4	100482987	100482988	ADH1C	ARG	GLN	272	103730.0001	ALCOHOL DEPENDENCE, PROTECTION AGAINST
chr4	102970098	102970099	BANK1	ARG	HIS	61	610292.0001	SYSTEMIC LUPUS ERYTHMATOSUS, ASSOCIATION WITH
chr4	103798077	103798078	MANBA	SER	PRO	505	609489.0005	BETA-MANNOSIDOSIS
chr4	103809208	103809209	MANBA	GLN	TER	426	609489.0008	BETA-MANNOSIDOSIS
chr4	103866814	103866815	MANBA	GLU	TER	83	609489.0007	BETA-MANNOSIDOSIS
chr4	104025812	104025813	CISD2	GLU	GLN	37	611507.0001	WOLFRAM SYNDROME 2
chr4	104732120	104732121	TACR3	PRO	SER	353	162332.0002	HYPOGONADOTROPIC HYPOGONADISM
chr4	104860003	104860004	TACR3	GLY	ASP	93	162332.0001	HYPOGONADOTROPIC HYPOGONADISM
chr4	109173843	109173844	HADH	PRO	LEU	258	601609.0003	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4
chr4	109173843	109173844	HADH	PRO	LEU	258	601609.0004	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4
chr4	109308191	109308192	LEF1	SER	PRO	61	153245.0001	SEBACEOUS TUMORS, SOMATIC
chr4	109308239	109308240	LEF1	GLU	LYS	45	153245.0001	SEBACEOUS TUMORS, SOMATIC
chr4	110881694	110881695	CFI	ASP	ASN	519	217030.0009	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
chr4	110890198	110890199	CFI	ARG	TRP	317	217030.0008	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
chr4	110901171	110901172	CFI	GLY	ASP	243	217030.0007	GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR I DEFICIENCY
chr4	111145144	111145145	EGF	PRO	LEU	1070	131530.0001	HYPOMAGNESEMIA 4, RENAL
chr4	111759148	111759151	PITX2	TRP	TER	133	601542.0006	AXENFELD-RIEGER SYNDROME, TYPE 1
chr4	111759273	111759274	PITX2	ARG	PRO	91	601542.0005	AXENFELD-RIEGER SYNDROME, TYPE 1
chr4	111761818	111761819	PITX2	THR	PRO	68	601542.0003	AXENFELD-RIEGER SYNDROME, TYPE 1
chr4	111761835	111761836	PITX2	ARG	HIS	62	601542.0012	RING DERMOID OF CORNEA
chr4	111761859	111761860	PITX2	LEU	GLN	54	601542.0001	AXENFELD-RIEGER SYNDROME, TYPE 1
chr4	111761907	111761908	PITX2	ARG	PRO	91	601542.0005	AXENFELD-RIEGER SYNDROME, TYPE 1
chr4	111762904	111762905	PITX2	LEU	GLN	54	601542.0001	AXENFELD-RIEGER SYNDROME, TYPE 1
chr4	122988077	122988078	BBS7	HIS	ARG	323	607590.0001	BARDET-BIEDL SYNDROME 7
chr4	122995394	122995395	BBS7	THR	ILE	211	607590.0002	BARDET-BIEDL SYNDROME 7
chr4	123883361	123883362	BBS12	ALA	PRO	289	610683.0004	BARDET-BIEDL SYNDROME 12
chr4	123883559	123883560	BBS12	ARG	TER	355	610683.0001	BARDET-BIEDL SYNDROME 12
chr4	129062192	129062193	MFSD8	GLY	ASP	429	611124.0002	CEROID LIPOFUSCINOSIS, NEURONAL, 7
chr4	129062243	129062244	MFSD8	PRO	LEU	412	611124.0005	CEROID LIPOFUSCINOSIS, NEURONAL, 7
chr4	129071356	129071357	MFSD8	GLY	ASP	310	611124.0001	CEROID LIPOFUSCINOSIS, NEURONAL, 7
chr4	129071391	129071392	MFSD8	TYR	TER	298	611124.0003	CEROID LIPOFUSCINOSIS, NEURONAL, 7
chr4	129084433	129084434	MFSD8	TYR	CYS	121	611124.0004	CEROID LIPOFUSCINOSIS, NEURONAL, 7
chr4	146780023	146780024	MMAA	GLN	TER	95	607481.0003	METHYLMALONIC ACIDURIA, cblA TYPE
chr4	146780173	146780174	MMAA	ARG	TER	145	607481.0005	METHYLMALONIC ACIDURIA, cblA TYPE
chr4	146786644	146786645	MMAA	TYR	CYS	207	607481.0004	METHYLMALONIC ACIDURIA, cblA TYPE
chr4	149221963	149221964	NR3C2	LEU	PRO	979	600983.0013	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
chr4	149222060	149222061	NR3C2	ARG	TER	947	600983.0015	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
chr4	149254732	149254733	NR3C2	LEU	PRO	924	600983.0007	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
chr4	149293150	149293151	NR3C2	SER	LEU	810	600983.0005	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY
chr4	149295189	149295190	NR3C2	GLN	ARG	776	600983.0011	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
chr4	149335425	149335426	NR3C2	CYS	TER	645	600983.0010	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
chr4	149400579	149400580	NR3C2	GLY	ARG	633	600983.0012	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
chr4	149575853	149575854	NR3C2	ARG	TER	537	600983.0003	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
chr4	149576974	149576975	NR3C2	SER	TER	163	600983.0014	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
chr4	154845537	154845538	TLR2	ARG	TRP	677	603028.0001	LEPROSY, SUSCEPTIBILITY TO, 3
chr4	155706424	155706425	FGB	ARG	CYS	44	134830.0006	FIBRINOGEN NIJMEGEN
chr4	155747509	155747510	FGG	GLY	ASP	309	134850.0019	FIBRINOGEN HILLSBOROUGH
chr4	155885450	155885453	LRAT	SER	ARG	175	604863.0001	RETINAL DYSTROPHY, EARLY-ONSET SEVERE
chr4	159813059	159813060	ETFDH	MET	THR	1	231675.0001	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
chr4	159822870	159822871	ETFDH	ALA	THR	84	231675.0003	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
chr4	159823000	159823001	ETFDH	LEU	HIS	127	231675.0005	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
chr4	159825738	159825739	ETFDH	ARG	LEU	175	231675.0004	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
chr4	167135691	167135692	TLL1	MET	LEU	182	606742.0001	ATRIAL SEPTAL DEFECT 6
chr4	167144072	167144073	TLL1	VAL	ALA	238	606742.0002	ATRIAL SEPTAL DEFECT 6
chr4	167200667	167200668	TLL1	ILE	VAL	629	606742.0003	ATRIAL SEPTAL DEFECT 6
chr4	170052379	170052380	PALLD	PRO	SER	239	608092.0001	PANCREATIC CANCER, SUSCEPTIBILITY TO, 1
chr4	175650961	175650962	HPGD	SER	PRO	193	601688.0004	DIGITAL CLUBBING, ISOLATED CONGENITAL
chr4	175666424	175666425	HPGD	ALA	PRO	140	601688.0001	CRANIOOSTEOARTHROPATHY
chr4	178591385	178591386	AGA	CYS	ARG	306	613228.0003	ASPARTYLGLUCOSAMINURIA
chr4	178591397	178591398	AGA	GLY	ARG	302	613228.0002	ASPARTYLGLUCOSAMINURIA
chr4	178596912	178596915	AGA	CYS	SER	163	613228.0001	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE
chr4	178597815	178597816	AGA	ALA	VAL	101	613228.0005	ASPARTYLGLUCOSAMINURIA
chr4	178598487	178598488	AGA	SER	PRO	72	613228.0012	ASPARTYLGLUCOSAMINURIA
chr4	178598522	178598523	AGA	GLY	ASP	60	613228.0004	ASPARTYLGLUCOSAMINURIA
chr4	186303092	186303093	SLC25A4	LEU	PRO	98	103220.0003	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2
chr4	186303110	186303111	SLC25A4	ASP	GLY	104	103220.0004	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2
chr4	186303139	186303140	SLC25A4	ALA	PRO	114	103220.0001	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2
chr4	186303167	186303168	SLC25A4	ALA	ASP	123	103220.0005	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC
chr4	186305086	186305087	SLC25A4	VAL	MET	289	103220.0002	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2
chr4	187241493	187241494	TLR3	PRO	SER	554	603029.0001	HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
chr4	187350100	187350101	CYP4V2	TRP	ARG	44	608614.0001	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
chr4	187350151	187350152	CYP4V2	GLY	SER	61	608614.0004	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
chr4	187354154	187354155	CYP4V2	ILE	THR	111	608614.0002	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
chr4	187368733	187368734	CYP4V2	ARG	HIS	508	608614.0003	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
chr5	271470	271471	SDHA	MET	LEU	1	600857.0003	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
chr5	304125	304126	SDHA	ALA	VAL	524	600857.0002	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
chr5	304214	304215	SDHA	ARG	TRP	554	600857.0001	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
chr5	304218	304219	SDHA	GLY	GLU	555	600857.0004	MITOCHONDRIAL COMPLEX II DEFICIENCY
chr5	1265452	1265453	SLC6A19	ASP	ASN	173	608893.0003	HARTNUP DISORDER
chr5	1307509	1307510	TERT	VAL	MET	1090	187270.0005	APLASTIC ANEMIA, SUSCEPTIBILITY TO
chr5	1317655	1317656	TERT	LYS	ASN	902	187270.0007	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
chr5	1319638	1319639	TERT	ARG	HIS	865	187270.0008	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO
chr5	1325366	1325367	TERT	TYR	CYS	772	187270.0004	APLASTIC ANEMIA, SUSCEPTIBILITY TO
chr5	1332455	1332456	TERT	VAL	MET	694	187270.0003	APLASTIC ANEMIA, SUSCEPTIBILITY TO
chr5	1346766	1346767	TERT	HIS	TYR	412	187270.0002	APLASTIC ANEMIA, SUSCEPTIBILITY TO
chr5	1347396	1347397	TERT	ALA	THR	202	187270.0001	APLASTIC ANEMIA, SUSCEPTIBILITY TO
chr5	1464442	1464443	SLC6A3	PRO	LEU	395	126455.0003	PARKINSONISM-DYSTONIA, INFANTILE
chr5	1467858	1467859	SLC6A3	LEU	GLN	368	126455.0002	PARKINSONISM-DYSTONIA, INFANTILE
chr5	1868998	1868999	NDUFS6	CYS	TYR	115	603848.0003	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr5	7923972	7923973	MTRR	ILE	MET	22	602568.0003	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO DOWN SYNDROME, SUSCEPTIBILITY TO, INCLUDED
chr5	7944517	7944518	MTRR	SER	LEU	454	602568.0007	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE
chr5	7945927	7945928	MTRR	GLY	ARG	487	602568.0004	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE
chr5	10309174	10309175	CCT5	HIS	ARG	147	610150.0001	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
chr5	13807311	13807312	DNAH5	GLY	ARG	3519	603335.0002	CILIARY DYSKINESIA, PRIMARY, 3
chr5	13954584	13954585	DNAH5	GLN	TER	610	603335.0004	CILIARY DYSKINESIA, PRIMARY, 3
chr5	14766752	14766753	ANKH	GLY	ARG	389	605145.0002	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
chr5	14822253	14822254	ANKH	MET	THR	48	605145.0006	CHONDROCALCINOSIS 2
chr5	14924542	14924543	ANKH	PRO	LEU	5	605145.0009	CHONDROCALCINOSIS 2
chr5	14924543	14924544	ANKH	PRO	THR	5	605145.0010	CHONDROCALCINOSIS 2
chr5	16530844	16530845	FAM134B	SER	TER	309	613114.0001	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
chr5	16618896	16618897	FAM134B	GLN	TER	145	613114.0003	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
chr5	33980645	33980646	SLC45A2	ALA	VAL	486	606202.0005	OCULOCUTANEOUS ALBINISM, TYPE IV
chr5	33987489	33987490	SLC45A2	LEU	PRO	361	606202.0002	OCULOCUTANEOUS ALBINISM, TYPE IV
chr5	33999626	33999627	SLC45A2	GLU	LYS	272	606202.0007	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN, INCLUDED
chr5	33999626	33999627	SLC45A2	GLU	LYS	272	606202.0007	 SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES, INCLUDED
chr5	34018190	34018191	SLC45A2	ASP	ASN	157	606202.0006	OCULOCUTANEOUS ALBINISM, TYPE IV
chr5	34041688	34041689	AMACR	LEU	PRO	107	604489.0002	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
chr5	34043727	34043728	AMACR	SER	PRO	52	604489.0001	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, INCLUDED
chr5	35906928	35906929	IL7R	PRO	SER	132	146661.0005	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
chr5	35909449	35909452	IL7R	TRP	TER	217	146661.0004	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
chr5	36709938	36709941	SLC1A3	CYS	SER	186	600111.0002	EPISODIC ATAXIA, TYPE 6
chr5	36715493	36715494	SLC1A3	PRO	ARG	290	600111.0001	EPISODIC ATAXIA, TYPE 6
chr5	36989556	36989557	NIPBL	MET	LYS	1	608667.0001	CORNELIA DE LANGE SYNDROME 1
chr5	37038592	37038593	NIPBL	ALA	GLY	1246	608667.0009	CORNELIA DE LANGE SYNDROME 1
chr5	37050586	37050587	NIPBL	ARG	TER	1536	608667.0012	CORNELIA DE LANGE SYNDROME 1
chr5	37056473	37056474	NIPBL	ARG	TER	1723	608667.0008	CORNELIA DE LANGE SYNDROME 1
chr5	37093069	37093070	NIPBL	TYR	CYS	2430	608667.0002	CORNELIA DE LANGE SYNDROME 1
chr5	37851512	37851513	GDNF	ILE	MET	211	600837.0004	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
chr5	37851685	37851686	GDNF	THR	SER	154	600837.0003	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
chr5	37851697	37851698	GDNF	ASP	ASN	150	600837.0002	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
chr5	37851868	37851869	GDNF	ARG	TRP	93	600837.0001	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, INCLUDED
chr5	37851868	37851869	GDNF	ARG	TRP	93	600837.0001	 PHEOCHROMOCYTOMA, MODIFIER OF, INCLUDED
chr5	38532336	38532337	LIFR	ARG	TER	597	151443.0002	STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME
chr5	38959095	38959096	OSMR	GLY	ALA	618	601743.0002	PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS
chr5	38961089	38961090	OSMR	ILE	THR	691	601743.0001	PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS
chr5	41015601	41015602	C7	CYS	TER	728	217070.0001	C7 DEFICIENCY
chr5	41237423	41237424	C6	GLU	ALA	98	217050.0001	C6 A/B POLYMORPHISM
chr5	41785437	41785438	OXCT1	CYS	PHE	456	601424.0002	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
chr5	41839006	41839007	OXCT1	GLY	GLU	324	601424.0004	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
chr5	41841532	41841533	OXCT1	SER	TER	283	601424.0001	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
chr5	41878543	41878544	OXCT1	VAL	MET	221	601424.0006	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
chr5	41878548	41878549	OXCT1	GLY	GLU	219	601424.0005	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
chr5	41889293	41889294	OXCT1	VAL	GLU	133	601424.0003	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
chr5	41898514	41898515	OXCT1	THR	MET	58	601424.0003	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
chr5	42735700	42735701	GHR	ILE	THR	153	600946.0022	LARON SYNDROME
chr5	44340903	44340904	FGF10	ARG	TER	193	602115.0001	APLASIA OF LACRIMAL AND SALIVARY GLANDS
chr5	44341013	44341014	FGF10	ILE	ARG	156	602115.0004	LADD SYNDROME
chr5	44346301	44346302	FGF10	GLY	GLU	138	602115.0007	APLASIA OF LACRIMAL AND SALIVARY GLANDS
chr5	44346305	44346306	FGF10	LYS	TER	137	602115.0005	APLASIA OF LACRIMAL AND SALIVARY GLANDS LADD SYNDROME, INCLUDED
chr5	44424224	44424225	FGF10	CYS	PHE	106	602115.0003	LADD SYNDROME
chr5	44424301	44424302	FGF10	ARG	SER	80	602115.0006	APLASIA OF LACRIMAL AND SALIVARY GLANDS
chr5	52430253	52430254	MOCS2	GLU	LYS	168	603708.0002	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
chr5	52438758	52438759	MOCS2	MET	ILE	1	603708.0005	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
chr5	52441300	52441301	MOCS2	GLN	TER	6	603708.0006	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
chr5	52441313	52441314	MOCS2	MET	ILE	1	603708.0005	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
chr5	52892291	52892294	NDUFS4	TRP	TER	15	602694.0004	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr5	52977957	52977958	NDUFS4	ARG	TER	106	602694.0003	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
chr5	60222547	60222548	ERCC8	TYR	TER	322	609412.0002	COCKAYNE SYNDROME, TYPE A
chr5	60234029	60234030	ERCC8	ALA	PRO	205	609412.0005	COCKAYNE SYNDROME, TYPE A
chr5	60236377	60236378	ERCC8	ALA	VAL	160	609412.0004	COCKAYNE SYNDROME, TYPE A
chr5	60276555	60276556	ERCC8	GLU	TER	13	609412.0003	COCKAYNE SYNDROME, TYPE A
chr5	68764670	68764671	MARVELD2	ARG	TER	500	610572.0004	DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49
chr5	68764670	68764671	F12	ARG	PRO	353	610619.0002	FACTOR XII (LOCARNO)
chr5	69381272	69381273	SMN1	ALA	GLY	2	600354.0006	SPINAL MUSCULAR ATROPHY, TYPE II SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
chr5	69395003	69395004	SMN1	ASP	ASN	30	600354.0012	SPINAL MUSCULAR ATROPHY, TYPE II
chr5	69395046	69395047	SMN1	ASP	VAL	44	600354.0013	SPINAL MUSCULAR ATROPHY, TYPE III
chr5	69398525	69398526	SMN1	GLY	ARG	95	600354.0014	SPINAL MUSCULAR ATROPHY, TYPE III
chr5	69398546	69398549	SMN1	TRP	TER	102	600354.0010	SPINAL MUSCULAR ATROPHY, TYPE II SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
chr5	69398574	69398575	SMN1	ALA	GLY	111	600354.0015	SPINAL MUSCULAR ATROPHY, TYPE I SPINAL MUSCULAR ATROPHY, TYPE II, INCLUDED
chr5	69398588	69398589	SMN1	ILE	PHE	116	600354.0017	SPINAL MUSCULAR ATROPHY, TYPE I
chr5	69398648	69398649	SMN1	GLN	GLU	136	600354.0018	SPINAL MUSCULAR ATROPHY, TYPE I
chr5	69402283	69402284	SMN1	SER	GLY	262	600354.0016	SPINAL MUSCULAR ATROPHY, TYPE III
chr5	69402284	69402285	SMN1	SER	ILE	262	600354.0003	SPINAL MUSCULAR ATROPHY, TYPE III
chr5	69402314	69402315	SMN1	TYR	CYS	272	600354.0004	SPINAL MUSCULAR ATROPHY, TYPE I
chr5	69402320	69402321	SMN1	THR	ILE	274	600354.0002	SPINAL MUSCULAR ATROPHY, TYPE II SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
chr5	69408104	69408105	SMN1	GLY	VAL	279	600354.0005	SPINAL MUSCULAR ATROPHY, TYPE I
chr5	69408127	69408128	SMN2	GLY	ARG	287	601627.0001	SPINAL MUSCULAR ATROPHY, MODIFIER OF
chr5	70256690	70256691	SMN1	ALA	GLY	2	600354.0006	SPINAL MUSCULAR ATROPHY, TYPE II SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
chr5	70270427	70270428	SMN1	ASP	ASN	30	600354.0012	SPINAL MUSCULAR ATROPHY, TYPE II
chr5	70270470	70270471	SMN1	ASP	VAL	44	600354.0013	SPINAL MUSCULAR ATROPHY, TYPE III
chr5	70273949	70273950	SMN1	GLY	ARG	95	600354.0014	SPINAL MUSCULAR ATROPHY, TYPE III
chr5	70273970	70273973	SMN1	TRP	TER	102	600354.0010	SPINAL MUSCULAR ATROPHY, TYPE II SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
chr5	70273998	70273999	SMN1	ALA	GLY	111	600354.0015	SPINAL MUSCULAR ATROPHY, TYPE I SPINAL MUSCULAR ATROPHY, TYPE II, INCLUDED
chr5	70274012	70274013	SMN1	ILE	PHE	116	600354.0017	SPINAL MUSCULAR ATROPHY, TYPE I
chr5	70274072	70274073	SMN1	GLN	GLU	136	600354.0018	SPINAL MUSCULAR ATROPHY, TYPE I
chr5	70277708	70277709	SMN1	SER	GLY	262	600354.0016	SPINAL MUSCULAR ATROPHY, TYPE III
chr5	70277709	70277710	SMN1	SER	ILE	262	600354.0003	SPINAL MUSCULAR ATROPHY, TYPE III
chr5	70277739	70277740	SMN1	TYR	CYS	272	600354.0004	SPINAL MUSCULAR ATROPHY, TYPE I
chr5	70277745	70277746	SMN1	THR	ILE	274	600354.0002	SPINAL MUSCULAR ATROPHY, TYPE II SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
chr5	70283524	70283525	SMN1	GLY	VAL	279	600354.0005	SPINAL MUSCULAR ATROPHY, TYPE I
chr5	70283547	70283548	SMN2	GLY	ARG	287	601627.0001	SPINAL MUSCULAR ATROPHY, MODIFIER OF
chr5	70931254	70931255	MCCC2	GLU	GLN	99	609014.0002	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5	70934168	70934169	MCCC2	ARG	GLN	155	609014.0003	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5	70934203	70934204	MCCC2	CYS	ARG	167	609014.0005	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5	70935995	70935996	MCCC2	HIS	ARG	190	609014.0008	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5	70963767	70963768	MCCC2	ARG	THR	268	609014.0006	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5	70966559	70966560	MCCC2	ASP	TYR	280	609014.0009	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5	70966758	70966759	MCCC2	PRO	ARG	310	609014.0004	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5	70980771	70980772	MCCC2	ILE	VAL	437	609014.0007	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5	74020970	74020971	HEXB	LYS	ARG	121	606873.0008	HEXB POLYMORPHISM
chr5	74045164	74045165	HEXB	ARG	TER	284	606873.0017	SANDHOFF DISEASE, INFANTILE
chr5	74050384	74050385	HEXB	PRO	LEU	417	606873.0007	SANDHOFF DISEASE, JUVENILE TYPE
chr5	74050501	74050502	HEXB	TYR	SER	456	606873.0006	SANDHOFF DISEASE, JUVENILE TYPE
chr5	74052224	74052225	HEXB	PRO	SER	504	606873.0014	SANDHOFF DISEASE, CHRONIC
chr5	74052228	74052229	HEXB	ARG	GLN	505	606873.0009	SANDHOFF DISEASE, ADULT TYPE
chr5	74052711	74052712	HEXB	ALA	THR	543	606873.0011	HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM
chr5	76681036	76681037	PDE8B	HIS	PRO	305	603390.0001	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
chr5	77447807	77447808	AP3B1	GLU	TER	659	603401.0008	HERMANSKY-PUDLAK SYNDROME 2
chr5	77472847	77472848	AP3B1	ARG	TER	509	603401.0007	HERMANSKY-PUDLAK SYNDROME 2
chr5	77513124	77513125	AP3B1	ARG	TER	302	603401.0006	HERMANSKY-PUDLAK SYNDROME 2
chr5	78170933	78170934	ARSB	CYS	TYR	405	611542.0004	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE
chr5	78170969	78170970	ARSB	HIS	PRO	393	611542.0010	MUCOPOLYSACCHARIDOSIS TYPE VI
chr5	78287064	78287065	ARSB	LEU	PRO	236	611542.0003	MUCOPOLYSACCHARIDOSIS TYPE VI, MILD
chr5	78296055	78296056	ARSB	TYR	CYS	210	611542.0009	MUCOPOLYSACCHARIDOSIS TYPE VI
chr5	78300673	78300674	ARSB	GLY	VAL	137	611542.0001	MUCOPOLYSACCHARIDOSIS TYPE VI, INTERMEDIATE
chr5	78300734	78300735	ARSB	CYS	ARG	117	611542.0002	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE
chr5	78316543	78316544	ARSB	ARG	GLN	95	611542.0008	MUCOPOLYSACCHARIDOSIS TYPE VI
chr5	78316612	78316613	ARSB	LEU	GLN	72	611542.0007	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE
chr5	86664863	86664864	RASA1	ARG	TER	285	139150.0006	CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION
chr5	86680876	86680877	RASA1	ARG	LEU	398	139150.0001	BASAL CELL CARCINOMA, SOMATIC
chr5	86680876	86680877	RASA1	LYS	GLY	400	139150.0002	BASAL CELL CARCINOMA, SOMATIC
chr5	86680884	86680885	RASA1	ILE	VAL	401	139150.0003	BASAL CELL CARCINOMA, SOMATIC
chr5	86701393	86701394	RASA1	CYS	TYR	540	139150.0005	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
chr5	90022563	90022564	GPR98	GLN	TER	2301	602851.0002	USHER SYNDROME, TYPE IIC
chr5	90317073	90317074	GPR98	TYR	CYS	6044	602851.0006	USHER SYNDROME, TYPE IIC
chr5	95760479	95760480	PCSK1	GLY	ARG	483	162150.0001	PROPROTEIN CONVERTASE 1/3 DEFICIENCY
chr5	95772408	95772409	PCSK1	SER	LEU	307	162150.0006	PROPROTEIN CONVERTASE 1/3 DEFICIENCY
chr5	95773911	95773912	PCSK1	GLU	TER	250	162150.0003	PROPROTEIN CONVERTASE 1/3 DEFICIENCY
chr5	95777540	95777541	PCSK1	ASN	ASP	221	162150.0005	OBESITY, SUSCEPTIBILITY TO
chr5	112139270	112139273	APC	TRP	TER	157	611731.0021	ADENOMATOUS POLYPOSIS COLI, ATTENUATED
chr5	112144475	112144476	APC	GLN	TER	208	611731.0047	GARDNER SYNDROME
chr5	112144496	112144497	APC	GLN	TER	215	611731.0022	ADENOMATOUS POLYPOSIS COLI BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
chr5	112179094	112179095	APC	SER	TER	280	611731.0007	GARDNER SYNDROME
chr5	112179159	112179160	APC	ARG	TER	302	611731.0006	ADENOMATOUS POLYPOSIS COLI GARDNER SYNDROME, INCLUDED
chr5	112182867	112182868	APC	ARG	CYS	414	611731.0005	GARNDER SYNDROME
chr5	112190752	112190753	APC	TYR	TER	486	611731.0032	ADENOMATOUS POLYPOSIS COLI
chr5	112190789	112190790	APC	ARG	TER	499	611731.0031	GARDNER SYNDROME
chr5	112191596	112191597	APC	GLN	TER	541	611731.0014	ADENOMATOUS POLYPOSIS COLI BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
chr5	112192484	112192485	APC	ARG	TER	554	611731.0015	ADENOMATOUS POLYPOSIS COLI
chr5	112192514	112192515	APC	ARG	TER	564	611731.0016	ADENOMATOUS POLYPOSIS COLI
chr5	112201282	112201283	APC	LEU	TER	698	611731.0039	GARDNER SYNDROME
chr5	112201327	112201328	APC	SER	TER	713	611731.0008	GARDNER SYNDROME
chr5	112201994	112201995	APC	TYR	TER	935	611731.0018	ADENOMATOUS POLYPOSIS COLI
chr5	112202388	112202389	APC	GLN	TER	1067	611731.0011	GASTRIC CANCER, SOMATIC
chr5	112202548	112202549	APC	GLY	GLU	1120	611731.0010	GASTRIC CANCER, SOMATIC
chr5	112203109	112203110	APC	ILE	LYS	1307	611731.0029	ADENOMATOUS POLYPOSIS COLI, SUSCEPTIBILITY TO BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
chr5	112203138	112203139	APC	GLU	GLN	1317	611731.0036	ADENOMATOUS POLYPOSIS COLI, ATTENUATED
chr5	112203201	112203202	APC	GLN	TER	1338	611731.0009	COLORECTAL CANCER, SOMATIC
chr5	112203372	112203373	APC	SER	CYS	1395	611731.0024	HEPATOBLASTOMA, SOMATIC
chr5	112407218	112407219	MCC	ALA	VAL	698	159350.0001	COLORECTAL CANCER, SOMATIC
chr5	112427705	112427706	MCC	ARG	GLN	506	159350.0002	COLORECTAL CANCER, SOMATIC
chr5	118816214	118816215	HSD17B4	GLY	SER	16	601860.0003	D-BIFUNCTIONAL PROTEIN DEFICIENCY
chr5	118839431	118839432	HSD17B4	ARG	PRO	106	601860.0005	D-BIFUNCTIONAL PROTEIN DEFICIENCY
chr5	118872769	118872770	HSD17B4	ASN	TYR	457	601860.0004	D-BIFUNCTIONAL PROTEIN DEFICIENCY
chr5	121441106	121441107	LOX	ARG	GLN	158	153455.0001	LYSYL OXIDASE POLYMORPHISM
chr5	121814301	121814302	SNCAIP	ARG	CYS	621	603779.0001	VARIANT OF UNKNOWN SIGNIFICANCE
chr5	131704218	131704219	SLC22A4	LEU	PHE	503	604190.0002	SLC22A4 POLYMORPHISM
chr5	131733565	131733566	SLC22A5	MET	ILE	1	603377.0018	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131741968	131741971	SLC22A5	TRP	TER	132	603377.0003	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131747744	131747745	SLC22A5	ARG	TRP	169	603377.0014	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131747745	131747746	SLC22A5	ARG	GLN	169	603377.0013	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131747871	131747872	SLC22A5	TYR	CYS	211	603377.0012	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131749025	131749026	SLC22A5	ARG	TER	254	603377.0019	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131750634	131750635	SLC22A5	ARG	TER	282	603377.0008	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131752610	131752611	SLC22A5	TRP	ARG	351	603377.0015	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131754423	131754424	SLC22A5	ARG	GLN	399	603377.0016	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131754430	131754431	SLC22A5	TYR	TER	401	603377.0009	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131756188	131756189	SLC22A5	PRO	LEU	478	603377.0011	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
chr5	131853038	131853039	IRF1	TRP	ARG	11	147575.0002	NONSMALL CELL LUNG CANCER
chr5	131853047	131853048	IRF1	MET	LEU	8	147575.0001	GASTRIC CANCER, SOMATIC
chr5	131981772	131981773	RAD50	ARG	TER	1093	604040.0001	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
chr5	132005954	132005955	RAD50	TER	TYR	1313	604040.0002	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
chr5	132230605	132230606	UQCRQ	SER	PHE	45	612080.0001	MITOCHONDRIAL COMPLEX III DEFICIENCY
chr5	133970581	133970582	SAR1B	GLY	VAL	185	607690.0008	CHYLOMICRON RETENTION DISEASE
chr5	133970600	133970603	SAR1B	SER	ARG	179	607690.0004	CHYLOMICRON RETENTION DISEASE
chr5	133972031	133972032	SAR1B	ASP	ASN	137	607690.0002	CHYLOMICRON RETENTION DISEASE
chr5	133972076	133972077	SAR1B	GLU	TER	122	607690.0007	CHYLOMICRON RETENTION DISEASE
chr5	133984590	133984591	SAR1B	GLY	ARG	37	607690.0001	CHYLOMICRON RETENTION DISEASE
chr5	135409993	135409994	TGFBI	ARG	CYS	124	601692.0003	CORNEAL DYSTROPHY, LATTICE TYPE I
chr5	135409994	135409995	TGFBI	ARG	HIS	124	601692.0004	CORNEAL DYSTROPHY, AVELLINO TYPE
chr5	135409994	135409995	TGFBI	ARG	LEU	124	601692.0007	CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
chr5	135419357	135419358	TGFBI	PRO	THR	501	601692.0005	CORNEAL DYSTROPHY, LATTICE TYPE IIIA
chr5	135419382	135419383	TGFBI	LEU	ARG	509	601692.0012	CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
chr5	135420323	135420324	TGFBI	PHE	SER	540	601692.0010	CORNEAL DYSTROPHY, LATTICE TYPE IIIA
chr5	135420341	135420342	TGFBI	ALA	ASP	546	601692.0009	CORNEAL DYSTROPHY, LATTICE TYPE I
chr5	135420356	135420357	TGFBI	PRO	GLN	551	601692.0009	CORNEAL DYSTROPHY, LATTICE TYPE I
chr5	135420367	135420368	TGFBI	ARG	TRP	555	601692.0001	CORNEAL DYSTROPHY, GROENOUW TYPE I
chr5	135420368	135420369	TGFBI	ARG	GLN	555	601692.0002	CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
chr5	135424485	135424486	TGFBI	GLY	ASP	623	601692.0011	CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
chr5	135426261	135426262	TGFBI	ARG	SER	666	601692.0013	CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
chr5	138310720	138310721	SIL1	LEU	PRO	457	608005.0007	MARINESCO-SJOGREN SYNDROME
chr5	138310720	138310721	SH3TC2	ARG	GLN	529	608206.0001	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
chr5	138310778	138310779	SIL1	GLN	TER	438	608005.0006	MARINESCO-SJOGREN SYNDROME
chr5	138414547	138414548	SIL1	ARG	TER	111	608005.0004	MARINESCO-SJOGREN SYNDROME
chr5	138671256	138671257	MATR3	SER	CYS	85	164015.0001	MYOPATHY, DISTAL 2
chr5	142401612	142401613	ARHGAP26	ASN	SER	417	605370.0001	LEUKEMIA, JUVENILE MYELOMONOCYTIC
chr5	142641662	142641663	NR3C1	LEU	PRO	773	138040.0012	GLUCOCORTICOID RESISTANCE, GENERALIZED
chr5	142641665	142641666	NR3C1	LEU	PRO	773	138040.0012	GLUCOCORTICOID RESISTANCE, GENERALIZED
chr5	142641721	142641722	NR3C1	LEU	PHE	753	138040.0003	GLUCOCORTICOID RESISTANCE, CELLULAR
chr5	142641739	142641740	NR3C1	ILE	MET	747	138040.0009	GLUCOCORTICOID RESISTANCE, FAMILIAL
chr5	142641771	142641774	NR3C1	PHE	LEU	737	138040.0015	GLUCOCORTICOID RESISTANCE, GENERALIZED
chr5	142641771	142641774	GLRA1	SER	TER	296	138491.0014	HYPEREKPLEXIA, AUTOSOMAL DOMINANT
chr5	142642471	142642472	NR3C1	GLY	SER	679	138040.0014	GLUCOCORTICOID RESISTANCE, GENERALIZED
chr5	142655219	142655220	NR3C1	SER	TER	675	600983.0018	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
chr5	142655318	142655319	NR3C1	ASP	VAL	641	138040.0001	GLUCOCORTICOID RESISTANCE, FAMILIAL
chr5	142660277	142660278	NR3C1	VAL	ALA	571	138040.0010	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE
chr5	142660313	142660314	NR3C1	ILE	ASN	559	138040.0008	GLUCOCORTICOID RESISTANCE, GENERALIZED
chr5	142669892	142669893	NR3C1	ARG	HIS	477	138040.0013	GLUCOCORTICOID RESISTANCE, GENERALIZED
chr5	142759509	142759510	NR3C1	ASN	SER	363	138040.0007	GLUCOCORTICOID RECEPTOR POLYMORPHISM
chr5	145699850	145699851	POU4F3	LEU	PRO	223	602460.0003	DEAFNESS, AUTOSOMAL DOMINANT 15
chr5	147187870	147187871	SPINK1	ASN	SER	34	167790.0001	 FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO, INCLUDED
chr5	147187870	147187871	SPINK1	ASN	SER	34	167790.0001	PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO TROPICAL CALCIFIC PANCREATITIS, INCLUDED
chr5	147191292	147191293	SPINK1	LEU	PRO	14	167790.0005	PANCREATITIS, CHRONIC
chr5	147191292	147191293	SPINK1	LEU	ARG	14	167790.0006	PANCREATITIS, CHRONIC
chr5	147191331	147191332	SPINK1	MET	THR	1	167790.0002	PANCREATITIS, CHRONIC
chr5	147479818	147479819	SPINK5	ARG	TER	790	605010.0001	NETHERTON SYNDROME
chr5	148187077	148187078	ADRB2	THR	ILE	164	109690.0003	BETA-2-ADRENORECEPTOR AGONIST, REDUCED RESPONSE TO
chr5	148370027	148370028	SH3TC2	ARG	TER	1109	608206.0006	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
chr5	148386627	148386628	SH3TC2	ARG	TER	954	608206.0005	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
chr5	148386658	148386659	SH3TC2	TYR	TER	943	608206.0004	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
chr5	148387518	148387519	SH3TC2	GLU	LYS	657	608206.0007	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
chr5	149246109	149246110	PDE6A	TYR	TER	583	180071.0001	RETINITIS PIGMENTOSA 43
chr5	149254985	149254988	PDE6A	TRP	TER	561	180071.0003	RETINITIS PIGMENTOSA 43
chr5	149254985	149254988	SLC34A1	ALA	PHE	48	182309.0001	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1
chr5	149267102	149267105	PDE6A	SER	ARG	344	180071.0002	RETINITIS PIGMENTOSA 43
chr5	149337939	149337940	SLC26A2	ARG	TER	178	606718.0005	ACHONDROGENESIS, TYPE IB DIASTROPHIC DYSPLASIA, INCLUDED
chr5	149340112	149340113	SLC26A2	GLY	GLU	255	606718.0003	ATELOSTEOGENESIS, TYPE II
chr5	149340183	149340184	SLC26A2	ARG	TRP	279	606718.0002	ATELOSTEOGENESIS, TYPE II DIASTROPHIC DYSPLASIA, INCLUDED
chr5	149340183	149340184	SLC26A2	ARG	TRP	279	606718.0002	 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, INCLUDED
chr5	149340621	149340622	SLC26A2	ASN	ASP	425	606718.0006	ACHONDROGENESIS, TYPE IB
chr5	149340709	149340710	SLC26A2	GLN	PRO	454	606718.0009	DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT
chr5	149340883	149340884	SLC26A2	THR	LYS	512	606718.0013	DE LA CHAPELLE DYSPLASIA DIASTROPHIC DYSPLASIA, INCLUDED
chr5	149341305	149341308	SLC26A2	CYS	SER	653	606718.0011	EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
chr5	149341381	149341382	SLC26A2	GLY	VAL	678	606718.0007	ACHONDROGENESIS, TYPE IB
chr5	149341492	149341493	SLC26A2	ALA	VAL	715	606718.0004	ATELOSTEOGENESIS, TYPE II
chr5	149413837	149413838	CSF1R	TYR	CYS	969	164770.0001	MYELOID MALIGNANCY, PREDISPOSITION TO
chr5	149720951	149720952	TCOF1	TYR	CYS	50	606847.0005	TREACHER COLLINS SYNDROME
chr5	149734043	149734044	TCOF1	GLN	TER	252	606847.0001	TREACHER COLLINS SYNDROME
chr5	149747759	149747760	TCOF1	ARG	TER	911	606847.0007	TREACHER COLLINS SYNDROME
chr5	150619586	150619587	GM2A	GLU	TER	54	613109.0005	GM2-GANGLIOSIDOSIS, AB VARIANT
chr5	150627128	150627129	GM2A	ARG	PRO	169	613109.0002	GM2-GANGLIOSIDOSIS, AB VARIANT
chr5	155704160	155704163	SGCD	TRP	TER	30	601411.0003	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F
chr5	155954527	155954528	SGCD	ALA	PRO	131	601411.0007	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F
chr5	155954587	155954588	SGCD	SER	ALA	151	601411.0006	CARDIOMYOPATHY, DILATED, 1L MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, DIGENIC, INCLUDED
chr5	155954629	155954630	SGCD	ARG	TER	165	601411.0002	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F
chr5	156118889	156118890	SGCD	GLU	LYS	262	601411.0004	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F
chr5	156601250	156601251	ITK	ARG	TRP	335	186973.0001	LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1
chr5	161255357	161255358	GABRA1	ALA	ASP	322	137160.0001	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
chr5	169467828	169467829	FOXI1	GLY	GLU	258	601093.0001	ENLARGED VESTIBULAR AQUEDUCT, DIGENIC
chr5	169467855	169467856	FOXI1	ARG	GLN	267	601093.0002	ENLARGED VESTIBULAR AQUEDUCT PENDRED SYNDROME, INCLUDED
chr5	169743373	169743374	KCNMB1	GLU	LYS	65	603951.0001	HYPERTENSION, DIASTOLIC, RESISTANCE TO
chr5	172592256	172592257	NKX2-5	ASP	GLY	299	600584.0011	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, SOMATIC ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC, INCLUDED
chr5	172592384	172592385	NKX2-5	TYR	TER	256	600584.0014	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
chr5	172592496	172592497	NKX2-5	ALA	VAL	219	600584.0008	TETRALOGY OF FALLOT
chr5	172592506	172592507	NKX2-5	ARG	CYS	216	600584.0007	TETRALOGY OF FALLOT
chr5	172592584	172592585	NKX2-5	ARG	CYS	190	600584.0013	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
chr5	172592605	172592606	NKX2-5	LYS	GLU	183	600584.0017	ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC
chr5	172592670	172592671	NKX2-5	ARG	PRO	161	600584.0016	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
chr5	172592797	172592798	NKX2-5	ALA	SER	119	600584.0015	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
chr5	172594631	172594632	NKX2-5	GLU	GLN	21	600584.0006	TETRALOGY OF FALLOT
chr5	174084610	174084613	MSX2	TRP	TER	115	123101.0006	PARIETAL FORAMINA 1
chr5	174088830	174088831	MSX2	PRO	HIS	148	123101.0001	CRANIOSYNOSTOSIS, TYPE 2
chr5	174088902	174088903	MSX2	ARG	HIS	172	123101.0003	PARIETAL FORAMINA 1
chr5	174088902	174088903	MSX2	ALA	TER	89	123101.0005	PARIETAL FORAMINA 1
chr5	175980824	175980825	SNCB	PRO	HIS	123	602569.0002	DEMENTIA, LEWY BODY
chr5	175986078	175986079	SNCB	VAL	MET	70	602569.0001	DEMENTIA, LEWY BODY
chr5	176452848	176452849	FGFR4	GLY	ARG	388	134935.0001	CANCER PROGRESSION AND TUMOR CELL MOTILITY
chr5	176569315	176569316	NSD1	SER	TER	437	606681.0002	SOTOS SYNDROME, SPORADIC
chr5	176569315	176569316	NSD1	HIS	GLU	2143	606681.0006	WEAVER SYNDROME
chr5	176597879	176597880	NSD1	ARG	TER	1320	606681.0010	SOTOS SYNDROME, SPORADIC
chr5	176653521	176653524	NSD1	CYS	SER	2183	606681.0007	WEAVER SYNDROME
chr5	176653579	176653580	NSD1	CYS	TYR	2202	606681.0013	SOTOS SYNDROME
chr5	176746079	176746080	SLC34A1	VAL	MET	147	182309.0002	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1
chr5	176967051	176967052	B4GALT7	ALA	ASP	186	604327.0001	EHLERS-DANLOS SYNDROME, PROGEROID FORM
chr5	176967111	176967112	B4GALT7	LEU	PRO	206	604327.0002	EHLERS-DANLOS SYNDROME, PROGEROID FORM
chr5	176968600	176968601	B4GALT7	ARG	CYS	270	604327.0003	EHLERS-DANLOS SYNDROME, PROGEROID FORM
chr5	177352416	177352419	PROP1	TRP	TER	194	601538.0013	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
chr5	177352638	177352639	PROP1	ARG	CYS	120	601538.0001	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
chr5	177352647	177352648	PROP1	PHE	ILE	117	601538.0003	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
chr5	177353759	177353760	PROP1	ARG	TER	99	601538.0011	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
chr5	177353759	177353760	PROP1	ARG	GLU	99	601538.0012	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
chr5	177353791	177353792	PROP1	PHE	SER	88	601538.0006	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
chr5	177353836	177353837	PROP1	ARG	HIS	73	601538.0009	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
chr5	177353837	177353838	PROP1	ARG	CYS	73	601538.0010	PITUITARY HORMONE DEFICIENCY, COMBINED, 2
chr5	178342611	178342612	GRM6	GLU	LYS	781	604096.0002	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
chr5	178345738	178345739	GRM6	GLN	TER	708	604096.0003	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
chr5	178345999	178346000	GRM6	ARG	TER	621	604096.0001	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
chr5	178346295	178346296	GRM6	CYS	TYR	522	604096.0007	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
chr5	178348681	178348682	GRM6	ILE	THR	405	604096.0008	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
chr5	178354103	178354104	GRM6	GLY	SER	150	604096.0004	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
chr5	178354414	178354415	GRM6	PRO	LEU	46	604096.0005	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
chr5	178489612	178489615	ADAMTS2	TRP	TER	795	604539.0002	EHLERS-DANLOS SYNDROME, TYPE VIIC
chr5	178632532	178632533	ADAMTS2	GLN	TER	225	604539.0001	EHLERS-DANLOS SYNDROME, TYPE VIIC
chr5	179196050	179196051	SQSTM1	PRO	LEU	392	601530.0001	PAGET DISEASE OF BONE
chr5	179972706	179972707	FLT4	PRO	LEU	1114	136352.0005	LYMPHEDEMA, HEREDITARY, IA
chr5	179973688	179973689	FLT4	GLU	LYS	1106	136352.0010	LYMPHEDEMA, HEREDITARY, IA
chr5	179973747	179973748	FLT4	ILE	THR	1086	136352.0009	LYMPHEDEMA, HEREDITARY, IA
chr5	179976060	179976061	FLT4	LEU	PRO	1044	136352.0004	LYMPHEDEMA, HEREDITARY, IA
chr5	179976069	179976070	FLT4	ARG	PRO	1041	136352.0003	LYMPHEDEMA, HEREDITARY, IA
chr5	179976087	179976088	FLT4	HIS	ARG	1035	136352.0006	LYMPHEDEMA, HEREDITARY, I
chr5	179978516	179978517	FLT4	PRO	SER	954	136352.0007	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC
chr5	179979285	179979286	FLT4	VAL	MET	878	136352.0008	LYMPHEDEMA, HEREDITARY, IA
chr5	179979348	179979349	FLT4	GLY	ARG	857	136352.0002	LYMPHEDEMA, HEREDITARY, IA
chr5	179979354	179979355	FLT4	ALA	THR	855	136352.0012	LYMPHEDEMA, HEREDITARY, IA
chr5_h2_hap1	223464	223465	MARVELD2	ARG	TER	500	610572.0004	DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49
chr5_h2_hap1	466221	466222	SMN2	GLY	ARG	287	601627.0001	SPINAL MUSCULAR ATROPHY, MODIFIER OF
chr5_h2_hap1	466244	466245	SMN1	GLY	VAL	279	600354.0005	SPINAL MUSCULAR ATROPHY, TYPE I
chr5_h2_hap1	472022	472023	SMN1	THR	ILE	274	600354.0002	SPINAL MUSCULAR ATROPHY, TYPE II SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
chr5_h2_hap1	472028	472029	SMN1	TYR	CYS	272	600354.0004	SPINAL MUSCULAR ATROPHY, TYPE I
chr5_h2_hap1	472058	472059	SMN1	SER	ILE	262	600354.0003	SPINAL MUSCULAR ATROPHY, TYPE III
chr5_h2_hap1	472059	472060	SMN1	SER	GLY	262	600354.0016	SPINAL MUSCULAR ATROPHY, TYPE III
chr5_h2_hap1	475693	475694	SMN1	GLN	GLU	136	600354.0018	SPINAL MUSCULAR ATROPHY, TYPE I
chr5_h2_hap1	475753	475754	SMN1	ILE	PHE	116	600354.0017	SPINAL MUSCULAR ATROPHY, TYPE I
chr5_h2_hap1	475767	475768	SMN1	ALA	GLY	111	600354.0015	SPINAL MUSCULAR ATROPHY, TYPE I SPINAL MUSCULAR ATROPHY, TYPE II, INCLUDED
chr5_h2_hap1	475795	475798	SMN1	TRP	TER	102	600354.0010	SPINAL MUSCULAR ATROPHY, TYPE II SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
chr5_h2_hap1	475816	475817	SMN1	GLY	ARG	95	600354.0014	SPINAL MUSCULAR ATROPHY, TYPE III
chr5_h2_hap1	479295	479296	SMN1	ASP	VAL	44	600354.0013	SPINAL MUSCULAR ATROPHY, TYPE III
chr5_h2_hap1	479338	479339	SMN1	ASP	ASN	30	600354.0012	SPINAL MUSCULAR ATROPHY, TYPE II
chr5_h2_hap1	493074	493075	SMN1	ALA	GLY	2	600354.0006	SPINAL MUSCULAR ATROPHY, TYPE II SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED
chr5_h2_hap1	1556317	1556318	MCCC2	GLU	GLN	99	609014.0002	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5_h2_hap1	1559231	1559232	MCCC2	ARG	GLN	155	609014.0003	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5_h2_hap1	1559266	1559267	MCCC2	CYS	ARG	167	609014.0005	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5_h2_hap1	1561058	1561059	MCCC2	HIS	ARG	190	609014.0008	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5_h2_hap1	1588830	1588831	MCCC2	ARG	THR	268	609014.0006	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5_h2_hap1	1591622	1591623	MCCC2	ASP	TYR	280	609014.0009	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5_h2_hap1	1591821	1591822	MCCC2	PRO	ARG	310	609014.0004	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr5_h2_hap1	1605834	1605835	MCCC2	ILE	VAL	437	609014.0007	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
chr6	1555745	1555746	FOXC1	GLN	TER	23	601090.0005	AXENFELD-RIEGER SYNDROME, TYPE 3
chr6	1555923	1555924	FOXC1	SER	THR	82	601090.0008	AXENFELD-RIEGER SYNDROME, TYPE 3
chr6	1555939	1555940	FOXC1	ILE	MET	87	601090.0009	AXENFELD-RIEGER ANOMALY
chr6	1556013	1556014	FOXC1	PHE	SER	112	601090.0004	 AXENFELD-RIEGER SYNDROME, TYPE 3, INCLUDED
chr6	1556013	1556014	FOXC1	PHE	SER	112	601090.0004	 PETERS ANOMALY, INCLUDED
chr6	1556013	1556014	FOXC1	PHE	SER	112	601090.0004	RIEGER ANOMALY AXENFELD ANOMALY, INCLUDED
chr6	1556036	1556037	FOXC1	GLN	TER	120	601090.0011	AXENFELD-RIEGER SYNDROME, TYPE 3 PETERS ANOMALY, INCLUDED
chr6	1556036	1556037	TFAP2B	ARG	GLN	274	601601.0005	CHAR SYNDROME
chr6	1556056	1556057	FOXC1	ILE	MET	126	601090.0003	AXENFELD ANOMALY
chr6	1556066	1556067	FOXC1	LEU	PHE	130	601090.0010	AXENFELD-RIEGER SYNDROME, TYPE 3
chr6	1556070	1556071	FOXC1	SER	LEU	131	601090.0002	RIEGER ANOMALY
chr6	3170528	3170531	TUBB2B	PHE	LEU	265	612850.0003	POLYMICROGYRIA, ASYMMETRIC
chr6	3170638	3170639	TUBB2B	LEU	PRO	228	612850.0002	POLYMICROGYRIA, ASYMMETRIC
chr6	3170807	3170808	TUBB2B	SER	PRO	172	612850.0001	POLYMICROGYRIA, ASYMMETRIC
chr6	7487234	7487235	DSP	VAL	MET	30	125647.0011	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
chr6	7510673	7510674	DSP	ASN	LYS	287	125647.0004	SKIN FRAGILITY-WOOLLY HAIR SYNDROME
chr6	7510707	7510710	DSP	SER	ARG	299	125647.0003	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
chr6	7511659	7511660	DSP	GLN	TER	331	125647.0001	KERATOSIS PALMOPLANTARIS STRIATA II
chr6	7517159	7517160	DSP	GLN	TER	664	125647.0007	SKIN FRAGILITY-WOOLLY HAIR SYNDROME
chr6	7520017	7520018	DSP	CYS	TER	809	125647.0005	SKIN FRAGILITY-WOOLLY HAIR SYNDROME
chr6	7525220	7525221	DSP	ARG	TER	1267	125647.0010	DILATED CARDIOMYOPATHY WITH WOOLLY HAIR AND KERATODERMA
chr6	7528293	7528294	DSP	ARG	TER	1934	125647.0008	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
chr6	7529589	7529590	DSP	ARG	CYS	2366	125647.0006	SKIN FRAGILITY-WOOLLY HAIR SYNDROME
chr6	7530994	7530995	DSP	ARG	HIS	2834	125647.0012	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
chr6	10510808	10510809	TFAP2A	GLY	GLU	262	107580.0002	BRANCHIOOCULOFACIAL SYNDROME
chr6	10512727	10512728	TFAP2A	ARG	GLY	255	107580.0001	BRANCHIOOCULOFACIAL SYNDROME
chr6	10637634	10637635	GCNT2	ALA	THR	169	600429.0004	ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT
chr6	10637812	10637813	GCNT2	ARG	GLN	228	600429.0005	ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT
chr6	10694712	10694713	GCNT2	ALA	THR	169	600429.0004	ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT
chr6	10694890	10694891	GCNT2	ARG	GLN	228	600429.0005	ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT
chr6	10734665	10734666	GCNT2	GLY	GLU	348	600429.0001	ADULT i BLOOD GROUP WITH CONGENITAL CATARACT
chr6	10734665	10734666	GCNT2	ARG	HIS	383	600429.0002	ADULT i BLOOD GROUP WITH CONGENITAL CATARACT
chr6	10734770	10734771	GCNT2	ARG	HIS	383	600429.0002	ADULT i BLOOD GROUP WITH CONGENITAL CATARACT
chr6	10985514	10985515	GCM2	GLY	SER	63	603716.0003	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr6	10985561	10985562	GCM2	ARG	LEU	47	603716.0002	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr6	12404240	12404241	EDN1	LYS	ASN	198	131240.0001	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7
chr6	12404240	12404241	ESR1	CYS	ALA	447	133430.0001	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
chr6	15735600	15735601	DTNBP1	GLN	TER	103	607145.0001	HERMANSKY-PUDLAK SYNDROME 7
chr6	16398739	16398740	GMPR	PHE	ILE	256	139265.0001	GMP REDUCTASE POLYMORPHISM
chr6	18229893	18229894	NHLRC1	ASP	ALA	308	608072.0007	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
chr6	18230023	18230024	NHLRC1	ARG	TER	265	608072.0005	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
chr6	18230223	18230224	NHLRC1	ILE	ASN	198	608072.0006	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
chr6	18230611	18230612	NHLRC1	PRO	ALA	69	608072.0002	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
chr6	18230740	18230743	NHLRC1	CYS	SER	26	608072.0001	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
chr6	18238896	18238897	TPMT	TYR	CYS	240	187680.0002	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
chr6	18238896	18238897	TPMT	TYR	CYS	240	187680.0005	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
chr6	18238971	18238972	TPMT	ARG	HIS	215	187680.0006	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
chr6	18242093	18242094	TPMT	ALA	GLY	167	187680.0007	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
chr6	18247206	18247207	TPMT	ALA	THR	154	187680.0002	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
chr6	18247206	18247207	TPMT	ALA	THR	154	187680.0004	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
chr6	18251933	18251934	TPMT	ALA	PRO	80	187680.0001	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
chr6	24613075	24613078	ALDH5A1	TRP	TER	204	610045.0003	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
chr6	24636255	24636256	ALDH5A1	GLY	ASP	409	610045.0005	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
chr6	24636263	24636264	ALDH5A1	ARG	TER	412	610045.0004	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
chr6	26199127	26199128	HFE	VAL	MET	53	235200.0005	HFE POLYMORPHISM
chr6	26199145	26199146	HFE	VAL	MET	59	235200.0006	HFE POLYMORPHISM
chr6	26199157	26199158	HFE	HIS	ASP	63	235200.0002	HEMOCHROMATOSIS MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7, INCLUDED
chr6	26199163	26199164	HFE	SER	CYS	65	235200.0003	HEMOCHROMATOSIS
chr6	26199232	26199233	HFE	SER	CYS	65	235200.0003	HEMOCHROMATOSIS
chr6	26199247	26199248	HFE	GLY	ARG	93	235200.0010	HEMOCHROMATOSIS
chr6	26199284	26199285	HFE	ILE	THR	105	235200.0009	HEMOCHROMATOSIS
chr6	26199560	26199561	HFE	GLN	HIS	127	235200.0007	HEMOCHROMATOSIS
chr6	26200973	26200974	HFE	GLN	HIS	127	235200.0007	HEMOCHROMATOSIS
chr6	26201119	26201120	HFE	CYS	TYR	282	235200.0001	 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, INCLUDED
chr6	26201119	26201120	HFE	CYS	TYR	282	235200.0001	 HEMOCHROMATOSIS, JUVENILE, DIGENIC, INCLUDED
chr6	26201119	26201120	HFE	CYS	TYR	282	235200.0001	HEMOCHROMATOSIS PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO, INCLUDED
chr6	26201119	26201120	HFE	CYS	TYR	282	235200.0001	 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7, INCLUDED
chr6	26201119	26201120	HFE	CYS	TYR	282	235200.0001	 PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO, INCLUDED
chr6	26201119	26201120	HFE	CYS	TYR	282	235200.0001	 TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS, INCLUDED
chr6	26201122	26201123	HFE	GLN	PRO	283	235200.0011	HEMOCHROMATOSIS
chr6	26201421	26201422	HFE	ARG	MET	330	235200.0008	HEMOCHROMATOSIS
chr6	29749143	29749144	ZFP57	CYS	TER	241	612192.0001	DIABETES MELLITUS, TRANSIENT NEONATAL, 1
chr6	31192727	31192728	CDSN	GLN	TER	215	602593.0001	HYPOTRICHOSIS SIMPLEX OF SCALP
chr6	31192772	31192773	CDSN	GLN	TER	200	602593.0002	HYPOTRICHOSIS SIMPLEX OF SCALP
chr6	31935593	31935594	NEU1	GLU	TER	377	608272.0001	SIALIDOSIS, TYPE I
chr6	31935872	31935873	NEU1	PRO	SER	316	608272.0012	SIALIDOSIS, TYPE I
chr6	31935925	31935926	NEU1	ALA	VAL	298	608272.0015	SIALIDOSIS, TYPE II
chr6	31936213	31936214	NEU1	PHE	TYR	260	608272.0004	SIALIDOSIS, TYPE II
chr6	31936265	31936266	NEU1	GLY	ARG	243	608272.0008	SIALIDOSIS, TYPE I
chr6	31936274	31936275	NEU1	TRP	ARG	240	608272.0011	SIALIDOSIS, TYPE II
chr6	31936318	31936319	NEU1	ARG	PRO	225	608272.0014	SIALIDOSIS, TYPE II
chr6	31936343	31936344	NEU1	VAL	MET	217	608272.0007	SIALIDOSIS, TYPE I
chr6	31937834	31937835	NEU1	LEU	ARG	91	608272.0002	SIALIDOSIS, TYPE II
chr6	31937867	31937868	NEU1	PRO	LEU	80	608272.0010	SIALIDOSIS, TYPE II
chr6	31938447	31938450	NEU1	TRP	TER	29	608272.0009	SIALIDOSIS, TYPE II
chr6	31938465	31938468	NEU1	TRP	TER	23	608272.0016	SIALIDOSIS, TYPE II
chr6	32011782	32011783	C2	GLU	ASP	318	217000.0004	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6	32018844	32018845	C2	GLU	ASP	318	217000.0004	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6	32022002	32022003	CFB	LEU	HIS	9	138470.0003	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6	32022158	32022159	CFB	ARG	GLN	32	138470.0004	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6	32023795	32023798	CFB	PHE	LEU	286	138470.0005	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
chr6	32024198	32024199	CFB	LYS	GLU	323	138470.0006	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
chr6	32115178	32115179	CYP21A2	ILE	ASN	172	201910.0001	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE
chr6	32115895	32115896	CYP21A2	GLY	SER	292	201910.0007	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE
chr6	32116520	32116523	CYP21A2	TRP	TER	406	201910.0022	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE
chr6	32116520	32116523	C2	SER	PHE	189	217000.0002	C2 DEFICIENCY, TYPE II
chr6	32116848	32116849	CYP21A2	PRO	SER	453	201910.0009	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LATE-ONSET FORM
chr6	32116848	32116849	CYP21A2	PRO	SER	453	201910.0010	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE
chr6	33248318	33248319	COL11A2	GLY	GLU	955	120290.0004	WEISSENBACHER-ZWEYMULLER SYNDROME OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROZYGOUS, INCLUDED
chr6	33252237	33252238	COL11A2	PRO	THR	621	120290.0010	DEAFNESS, AUTOSOMAL RECESSIVE 53
chr6	33253897	33253898	COL11A2	PRO	THR	621	120290.0010	DEAFNESS, AUTOSOMAL RECESSIVE 53
chr6	33508463	33508464	SYNGAP1	LYS	TER	138	603384.0001	MENTAL RETARDATION, AUTOSOMAL DOMINANT 5
chr6	33516541	33516542	SYNGAP1	ARG	TER	579	603384.0002	MENTAL RETARDATION, AUTOSOMAL DOMINANT 5
chr6	35531607	35531608	FANCE	GLN	TER	119	600901.0001	FANCONI ANEMIA, COMPLEMENTATION GROUP E
chr6	35531673	35531674	FANCE	ARG	TER	141	600901.0002	FANCONI ANEMIA, COMPLEMENTATION GROUP E
chr6	35575759	35575762	TULP1	PHE	LEU	491	602280.0002	RETINITIS PIGMENTOSA 14
chr6	35575786	35575787	TULP1	ARG	TRP	482	602280.0007	RETINITIS PIGMENTOSA 14
chr6	35575854	35575855	TULP1	ILE	LYS	459	602280.0003	RETINITIS PIGMENTOSA 14
chr6	35579377	35579378	TULP1	ARG	PRO	420	602280.0001	RETINITIS PIGMENTOSA 14
chr6	35579570	35579571	TULP1	PHE	SER	382	602280.0006	RETINITIS PIGMENTOSA 14
chr6	35881804	35881805	LHFPL5	TYR	CYS	127	609427.0002	DEAFNESS, AUTOSOMAL RECESSIVE 67
chr6	35890381	35890382	LHFPL5	THR	MET	165	609427.0004	DEAFNESS, AUTOSOMAL RECESSIVE 67
chr6	36759946	36759949	CDKN1A	SER	ARG	31	116899.0001	CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1
chr6	39988010	39988011	MOCS1	ARG	GLN	319	603707.0003	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
chr6	40003078	40003079	MOCS1	ARG	TRP	73	603707.0005	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
chr6	41234706	41234707	TREM2	LYS	ASN	186	605086.0002	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
chr6	41235588	41235589	TREM2	ASP	GLY	134	605086.0003	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
chr6	41236992	41236993	TREM2	VAL	GLY	126	605086.0006	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
chr6	41237137	41237140	TREM2	TRP	TER	78	605086.0001	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
chr6	41237239	41237242	TREM2	TRP	TER	44	605086.0005	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
chr6	41237272	41237273	TREM2	GLN	TER	33	605086.0007	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
chr6	42249477	42249478	GUCA1A	PRO	LEU	50	600364.0002	CONE DYSTROPHY 3
chr6	42254089	42254090	GUCA1A	TYR	CYS	99	600364.0001	CONE DYSTROPHY 3 CONE-ROD DYSTROPHY, AUTOSOMAL DOMINANT, INCLUDED
chr6	42254963	42254964	GUCA1A	LEU	PHE	151	600364.0003	CONE-ROD DYSTROPHY, AUTOSOMAL DOMINANT CONE DYSTROPHY 3, INCLUDED
chr6	42261401	42261402	GUCA1B	GLY	ARG	157	602275.0001	RETINITIS PIGMENTOSA 48
chr6	42774105	42774108	PRPH2	TRP	TER	316	179605.0015	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
chr6	42780134	42780135	PRPH2	TYR	TER	258	179605.0008	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
chr6	42780176	42780177	PRPH2	ASN	LYS	244	179605.0011	RETINITIS PIGMENTOSA 7, WITH BULL'S-EYE MACULOPATHY
chr6	42780261	42780262	PRPH2	PRO	LEU	216	179605.0003	RETINITIS PIGMENTOSA 7
chr6	42780279	42780280	PRPH2	PRO	ARG	210	179605.0012	FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION
chr6	42780324	42780325	PRPH2	ARG	LEU	195	179605.0021	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
chr6	42797496	42797497	PRPH2	LEU	PRO	185	179605.0004	RETINITIS PIGMENTOSA 7, DIGENIC
chr6	42797532	42797533	PRPH2	ASP	VAL	173	179605.0020	RETINITIS PIGMENTOSA 7
chr6	42797535	42797536	PRPH2	ARG	GLN	172	179605.0006	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
chr6	42797536	42797537	PRPH2	ARG	TRP	172	179605.0007	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
chr6	42797550	42797551	PRPH2	GLY	ASP	167	179605.0009	MACULAR DYSTROPHY, PATTERNED
chr6	42797626	42797627	PRPH2	ARG	TRP	142	179605.0022	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
chr6	42797914	42797915	PRPH2	ARG	TER	46	179605.0018	FUNDUS FLAVIMACULATUS
chr6	42798048	42798049	PRPH2	MET	THR	1	179605.0014	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
chr6	43036628	43036629	GNMT	LEU	PRO	49	606628.0001	GLYCINE N-METHYLTRANSFERASE DEFICIENCY
chr6	43114606	43114607	CUL7	HIS	PRO	1464	609577.0002	3@M SYNDROME
chr6	43114664	43114665	CUL7	ARG	TER	1445	609577.0001	3@M SYNDROME
chr6	43680333	43680336	POLH	TRP	TER	297	603968.0005	XERODERMA PIGMENTOSUM, VARIANT TYPE
chr6	43680333	43680336	POLH	VAL	TER	125	603968.0006	XERODERMA PIGMENTOSUM, VARIANT TYPE
chr6	43680333	43680336	POLH	VAL	TER	372	603968.0007	XERODERMA PIGMENTOSUM, VARIANT TYPE
chr6	43680360	43680361	POLH	GLU	TER	306	603968.0004	XERODERMA PIGMENTOSUM, VARIANT TYPE
chr6	43689732	43689733	POLH	LYS	GLU	535	603968.0012	XERODERMA PIGMENTOSUM, VARIANT TYPE
chr6	43689895	43689896	POLH	LYS	THR	589	603968.0013	XERODERMA PIGMENTOSUM, VARIANT TYPE
chr6	45507659	45507660	RUNX2	ARG	PRO	169	600211.0012	CLEIDOCRANIAL DYSPLASIA
chr6	45507677	45507678	RUNX2	MET	ARG	175	600211.0004	CLEIDOCRANIAL DYSPLASIA
chr6	45507725	45507726	RUNX2	SER	ASN	191	600211.0005	CLEIDOCRANIAL DYSPLASIA
chr6	45513678	45513679	RUNX2	THR	ALA	200	600211.0010	CLEIDOCRANIAL DYSPLASIA CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED
chr6	45513753	45513754	RUNX2	ARG	TRP	225	600211.0009	CLEIDOCRANIAL DYSPLASIA
chr6	45513754	45513755	RUNX2	ARG	GLN	225	600211.0008	CLEIDOCRANIAL DYSPLASIA
chr6	45587989	45587992	RUNX2	TRP	TER	283	600211.0002	CLEIDOCRANIAL DYSPLASIA
chr6	45623018	45623019	RUNX2	TER	SER	522	600211.0011	CLEIDOCRANIAL DYSPLASIA
chr6	46785056	46785057	PLA2G7	VAL	PHE	279	601690.0001	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
chr6	46787261	46787262	PLA2G7	ILE	THR	198	601690.0002	ASTHMA AND ATOPY, SUSCEPTIBILITY TO
chr6	49507502	49507503	MUT	GLY	VAL	717	609058.0005	METHYLMALONIC ACIDURIA, mut(-) TYPE
chr6	49511144	49511145	MUT	GLY	ARG	703	609058.0009	METHYLMALONIC ACIDURIA, mut(0) TYPE
chr6	49515966	49515967	MUT	GLY	ARG	623	609058.0008	METHYLMALONIC ACIDURIA, mut(0) TYPE
chr6	49533460	49533461	MUT	ASN	TYR	219	609058.0010	METHYLMALONIC ACIDURIA, mut(0) TYPE
chr6	49533472	49533473	MUT	GLY	SER	215	609058.0012	METHYLMALONIC ACIDURIA, mut(0) TYPE
chr6	49534789	49534790	MUT	GLU	TER	117	609058.0006	METHYLMALONIC ACIDURIA, mut(-) TYPE
chr6	49534816	49534817	MUT	ARG	CYS	108	609058.0011	METHYLMALONIC ACIDURIA, mut(0) TYPE
chr6	49534825	49534826	MUT	TRP	ARG	105	609058.0002	METHYLMALONIC ACIDURIA, mut(0) TYPE
chr6	49534860	49534861	MUT	ARG	HIS	93	609058.0004	METHYLMALONIC ACIDURIA, mut(0) TYPE
chr6	49682820	49682821	RHAG	GLY	VAL	380	180297.0010	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE
chr6	49688175	49688176	RHAG	GLY	ARG	280	180297.0009	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE
chr6	49688177	49688178	RHAG	GLY	GLU	279	180297.0004	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE
chr6	49688205	49688206	RHAG	VAL	ILE	270	180297.0009	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE
chr6	49694955	49694956	RHAG	SER	ASN	79	180297.0003	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE
chr6	49712481	49712482	RHAG	MET	ILE	1	180297.0007	RH-MOD SYNDROME
chr6	51632224	51632225	PKHD1	ILE	THR	3553	606702.0006	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
chr6	51632470	51632471	PKHD1	VAL	GLY	3471	606702.0008	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
chr6	51721319	51721320	PKHD1	SER	PHE	3018	606702.0003	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
chr6	51820627	51820628	PKHD1	ARG	TER	2671	606702.0005	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
chr6	51997345	51997346	PKHD1	VAL	MET	1741	606702.0004	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
chr6	51997575	51997576	PKHD1	SER	PHE	1664	606702.0002	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
chr6	52031105	52031106	PKHD1	ARG	TER	496	606702.0007	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
chr6	52055957	52055958	PKHD1	THR	MET	36	606702.0001	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
chr6	52396867	52396868	EFHC1	PRO	THR	77	608815.0005	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
chr6	52411294	52411295	EFHC1	ILE	VAL	174	608815.0006	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
chr6	52411319	52411320	EFHC1	ARG	HIS	182	608815.0001	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
chr6	52425498	52425499	EFHC1	ASP	ASN	210	608815.0003	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
chr6	52425532	52425533	EFHC1	ARG	HIS	221	608815.0005	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
chr6	52425555	52425558	EFHC1	PHE	LEU	229	608815.0002	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
chr6	52426884	52426885	EFHC1	ASP	TYR	253	608815.0004	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
chr6	52426903	52426904	EFHC1	CYS	TYR	259	608815.0007	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
chr6	52988855	52988856	ICK	ARG	GLN	272	612325.0001	ENDOCRINE-CEREBROOSTEODYSPLASIA
chr6	53479757	53479758	GCLC	HIS	LEU	370	606857.0001	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
chr6	57167573	57167574	RAB23	LEU	TER	145	606144.0001	CARPENTER SYNDROME
chr6	65202857	65202858	EYS	GLU	TER	1953	612424.0004	RETINITIS PIGMENTOSA 25
chr6	71047456	71047457	COL9A1	ARG	TER	295	120210.0002	STICKLER SYNDROME, AUTOSOMAL RECESSIVE, COL9A1-RELATED
chr6	73017430	73017431	RIMS1	ARG	HIS	820	606629.0001	CONE-ROD DYSTROPHY 7
chr6	74381868	74381869	SLC17A5	PRO	ARG	334	604322.0005	INFANTILE SIALIC ACID STORAGE DISORDER
chr6	74404920	74404921	SLC17A5	HIS	ARG	183	604322.0004	INFANTILE SIALIC ACID STORAGE DISORDER
chr6	74408253	74408254	SLC17A5	LYS	GLU	136	604322.0009	SALLA DISEASE
chr6	74411026	74411027	SLC17A5	ARG	CYS	39	604322.0001	SALLA DISEASE
chr6	76607114	76607115	MYO6	GLU	VAL	216	600970.0004	DEAFNESS, AUTOSOMAL RECESSIVE 37
chr6	76607735	76607736	MYO6	HIS	ARG	246	600970.0005	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY
chr6	76623634	76623635	MYO6	CYS	TYR	442	600970.0001	DEAFNESS, AUTOSOMAL DOMINANT 22
chr6	76653317	76653318	MYO6	ARG	TER	849	600970.0006	DEAFNESS, AUTOSOMAL DOMINANT 22
chr6	76680555	76680556	MYO6	ARG	TER	1166	600970.0003	DEAFNESS, AUTOSOMAL RECESSIVE 37
chr6	80260071	80260072	LCA5	GLN	TER	279	611408.0003	LEBER CONGENITAL AMAUROSIS 5
chr6	80683178	80683179	ELOVL4	TYR	TER	270	605512.0004	STARGARDT DISEASE 3
chr6	80935380	80935381	BCKDHB	ARG	PRO	183	248611.0002	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
chr6	107582570	107582571	PDSS2	SER	LEU	382	610564.0002	COENZYME Q10 DEFICIENCY
chr6	107638379	107638380	PDSS2	GLN	TER	322	610564.0001	COENZYME Q10 DEFICIENCY
chr6	108357363	108357366	SEC63	TRP	TER	58	608648.0001	POLYCYSTIC LIVER DISEASE
chr6	108502512	108502513	OSTM1	CYS	TER	12	607649.0003	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
chr6	110143028	110143029	FIG4	ILE	THR	41	609390.0001	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
chr6	110143063	110143064	FIG4	ASP	TYR	53	609390.0008	AMYOTROPHIC LATERAL SCLEROSIS 11
chr6	110163094	110163095	FIG4	ARG	TER	183	609390.0003	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
chr6	110163094	110163095	FIG4	ARG	TER	183	609390.0006	AMYOTROPHIC LATERAL SCLEROSIS 11
chr6	112488993	112488994	WISP3	CYS	TER	52	603400.0003	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
chr6	112489069	112489070	WISP3	CYS	ARG	78	603400.0004	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
chr6	112492737	112492738	WISP3	CYS	TYR	145	603400.0001	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
chr6	112497441	112497444	WISP3	TRP	TER	331	603400.0002	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
chr6	112497450	112497451	WISP3	SER	PRO	334	603400.0010	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY
chr6	116547960	116547961	COL10A1	SER	PRO	671	120110.0014	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548020	116548023	COL10A1	TRP	TER	651	120110.0010	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548020	116548021	COL10A1	TRP	ARG	651	120110.0011	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548075	116548076	COL10A1	TYR	TER	632	120110.0015	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548087	116548088	COL10A1	TYR	TER	628	120110.0009	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548130	116548131	COL10A1	LEU	PRO	614	120110.0003	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548140	116548143	COL10A1	TRP	TER	611	120110.0019	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548173	116548174	COL10A1	SER	PRO	600	120110.0018	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548179	116548180	COL10A1	TYR	ASP	598	120110.0002	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548181	116548182	COL10A1	TYR	CYS	597	120110.0017	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548187	116548188	COL10A1	GLY	GLU	595	120110.0016	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116548200	116548201	COL10A1	CYS	ARG	591	120110.0004	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116553295	116553296	COL10A1	GLY	GLU	18	120110.0013	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	116553296	116553297	COL10A1	GLY	ARG	18	120110.0012	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
chr6	117044803	117044804	RSPH4A	GLN	TER	109	612647.0002	CILIARY DYSKINESIA, PRIMARY, 11
chr6	117044938	117044939	RSPH4A	GLN	TER	154	612647.0001	CILIARY DYSKINESIA, PRIMARY, 11
chr6	117056030	117056031	RSPH4A	ARG	TER	490	612647.0003	CILIARY DYSKINESIA, PRIMARY, 11
chr6	117310259	117310260	RFX6	ARG	GLN	181	612659.0005	DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA
chr6	117323039	117323040	RFX6	SER	PRO	217	612659.0004	DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA
chr6	118986801	118986802	PLN	ARG	CYS	9	172405.0001	CARDIOMYOPATHY, DILATED, 1P
chr6	118986892	118986893	PLN	LEU	TER	39	172405.0002	CARDIOMYOPATHY, DILATED, 1P
chr6	121809723	121809724	GJA1	LEU	PRO	11	121014.0014	OCULODENTODIGITAL DYSPLASIA
chr6	121809741	121809742	GJA1	TYR	SER	17	121014.0003	OCULODENTODIGITAL DYSPLASIA
chr6	121809743	121809744	GJA1	SER	PRO	18	121014.0004	OCULODENTODIGITAL DYSPLASIA
chr6	121809752	121809753	GJA1	GLY	ARG	21	121014.0005	OCULODENTODIGITAL DYSPLASIA
chr6	121809756	121809757	GJA1	GLY	GLU	22	121014.0006	OCULODENTODIGITAL DYSPLASIA
chr6	121809788	121809789	GJA1	ARG	TER	33	121014.0016	OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
chr6	121809917	121809918	GJA1	ARG	SER	76	121014.0018	OCULODENTODIGITAL DYSPLASIA
chr6	121809918	121809919	GJA1	ARG	HIS	76	121014.0017	HALLERMANN-STREIFF SYNDROME
chr6	121809977	121809978	GJA1	VAL	MET	96	121014.0009	OCULODENTODIGITAL DYSPLASIA
chr6	121810118	121810119	GJA1	GLY	SER	143	121014.0008	SYNDACTYLY, TYPE III
chr6	121810272	121810273	GJA1	HIS	PRO	194	121014.0013	OCULODENTODIGITAL DYSPLASIA
chr6	121810776	121810777	GJA1	ARG	GLN	362	121014.0011	HYPOPLASTIC LEFT HEART SYNDROME ATRIOVENTRICULAR SEPTAL DEFECT, INCLUDED
chr6	121810818	121810819	GJA1	ARG	GLN	376	121014.0012	HYPOPLASTIC LEFT HEART SYNDROME ATRIOVENTRICULAR SEPTAL DEFECT, INCLUDED
chr6	129553154	129553155	LAMA2	CYS	TYR	527	156225.0010	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
chr6	129650730	129650731	LAMA2	CYS	ARG	862	156225.0009	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
chr6	129660566	129660567	LAMA2	CYS	TER	967	156225.0013	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
chr6	129716122	129716123	LAMA2	ARG	TER	1549	156225.0011	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
chr6	129827281	129827282	LAMA2	ARG	TER	2383	156225.0012	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
chr6	129844218	129844219	LAMA2	LEU	PRO	2564	156225.0004	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
chr6	129844259	129844260	LAMA2	ARG	TER	2578	156225.0008	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
chr6	129879068	129879069	LAMA2	ARG	TER	3085	156225.0005	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
chr6	129879080	129879081	LAMA2	ARG	TER	3085	156225.0005	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
chr6	131936146	131936147	ARG1	ILE	THR	11	608313.0008	ARGININEMIA
chr6	131939498	131939499	ARG1	ARG	TER	21	608313.0012	ARGININEMIA
chr6	131944109	131944112	ARG1	TRP	TER	122	608313.0005	ARGININEMIA
chr6	131944158	131944159	ARG1	GLY	VAL	138	608313.0009	ARGININEMIA
chr6	131946224	131946225	ARG1	GLY	ARG	235	608313.0006	ARGININEMIA
chr6	131946639	131946642	ARG1	THR	SER	290	608313.0004	ARGININEMIA
chr6	131946642	131946643	ARG1	ARG	TER	291	608313.0003	ARGININEMIA
chr6	132224536	132224537	ENPP1	GLY	VAL	342	173335.0008	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
chr6	132227718	132227719	ENPP1	TYR	PHE	371	173335.0009	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
chr6	132239837	132239838	ENPP1	LEU	PHE	579	173335.0005	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
chr6	132247771	132247772	ENPP1	ARG	CYS	774	173335.0003	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
chr6	132253242	132253243	ENPP1	GLU	TER	893	173335.0002	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
chr6	135795955	135795956	AHI1	ARG	GLN	723	608894.0006	JOUBERT SYNDROME 3
chr6	135809852	135809853	AHI1	ARG	TER	589	608894.0005	JOUBERT SYNDROME 3
chr6	135818580	135818581	AHI1	VAL	ASP	443	608894.0003	JOUBERT SYNDROME 3
chr6	135818605	135818606	AHI1	ARG	TER	435	608894.0002	JOUBERT SYNDROME 3
chr6	135820424	135820425	AHI1	ARG	TER	351	608894.0001	JOUBERT SYNDROME 3
chr6	137185535	137185536	PEX7	THR	PRO	14	601757.0011	REFSUM DISEASE, ADULT, 2
chr6	137185615	137185616	PEX7	TYR	TER	40	601757.0009	REFSUM DISEASE, ADULT, 2 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, INCLUDED
chr6	137208450	137208451	PEX7	TYR	TER	115	601757.0007	REFSUM DISEASE, ADULT, 2
chr6	137232735	137232736	PEX7	GLY	ARG	217	601757.0003	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
chr6	137232739	137232740	PEX7	ALA	VAL	218	601757.0002	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
chr6	137232780	137232781	PEX7	ARG	TER	232	601757.0004	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
chr6	137261043	137261044	PEX7	LEU	TER	292	601757.0001	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
chr6	137569078	137569079	IFNGR1	ILE	THR	87	107470.0003	BCG INFECTION, TUBERCULOID, ANTIBIOTIC-RESPONSIVE MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY
chr6	137569108	137569109	IFNGR1	CYS	TYR	77	107470.0008	ATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED FAMILIAL
chr6	137569108	137569109	IFNGR1	VAL	GLN	61	107470.0009	ATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED
chr6	144550258	144550259	STX11	GLN	TER	268	605014.0003	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4
chr6	145990519	145990520	EPM2A	ARG	TER	241	607566.0008	EPILEPSY, PROGRESSIVE MYOCLONIC 2A
chr6	146098233	146098234	EPM2A	TRP	GLY	32	607566.0010	EPILEPSY, PROGRESSIVE MYOCLONIC 2A
chr6	150752302	150752303	IYD	ARG	TRP	101	612025.0001	THYROID DYSHORMONOGENESIS 4
chr6	150752348	150752349	IYD	ILE	THR	116	612025.0003	THYROID DYSHORMONOGENESIS 4
chr6	150752348	150752349	IYD	ALA	TYR	220	612025.0004	THYROID DYSHORMONOGENESIS 4
chr6	152205440	152205441	ESR1	ARG	TER	157	133430.0002	ESTROGEN RESISTANCE
chr6	152307330	152307331	ESR1	VAL	GLU	364	133430.0003	ESTROGEN RESISTANCE
chr6	152502854	152502855	SYNE1	GLU	LYS	646	608441.0010	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4
chr6	152504117	152504118	SYNE1	VAL	LEU	572	608441.0009	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4
chr6	152514814	152514815	SYNE1	ARG	HIS	257	608441.0008	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4
chr6	152564665	152564666	SYNE1	GLN	TER	7640	608441.0005	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
chr6	152576564	152576565	SYNE1	GLN	TER	7386	608441.0006	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
chr6	152744147	152744148	SYNE1	ARG	TER	2906	608441.0003	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
chr6	154402489	154402490	OPRM1	ASN	ASP	40	600018.0001	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
chr6	158533022	158533023	GTF2H5	LEU	PRO	21	608780.0002	TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A
chr6	158533126	158533127	GTF2H5	ARG	TER	56	608780.0001	TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A
chr6	160410982	160410983	IGF2R	GLY	VAL	1449	147280.0001	HEPATOCELLULAR CARCINOMA, SOMATIC
chr6	160411027	160411028	IGF2R	GLY	GLU	1464	147280.0002	HEPATOCELLULAR CARCINOMA, SOMATIC
chr6	161691161	161691164	PARK2	TRP	TER	453	602544.0007	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
chr6	161910378	161910379	PARK2	GLN	TER	311	602544.0004	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
chr6	162126841	162126842	PARK2	ARG	TRP	275	602544.0017	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
chr6	162314338	162314339	PARK2	THR	ARG	240	602544.0003	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
chr6	162314338	162314339	PARK2	THR	MET	240	602544.0021	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
chr6	162314422	162314423	PARK2	CYS	TYR	212	602544.0012	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
chr6	162314424	162314425	PARK2	LYS	ASN	211	602544.0018	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
chr6	162542203	162542204	PARK2	LYS	ASN	161	602544.0008	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
chr6	162603713	162603714	PARK2	ALA	GLU	82	602544.0011	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
chr6	162784335	162784336	PARK2	VAL	GLU	56	602544.0013	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
chr6	167264538	167264539	RNASET2	CYS	ARG	184	612944.0001	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
chr6_cox_hap1	1096473	1096474	ZFP57	CYS	TER	241	612192.0001	DIABETES MELLITUS, TRANSIENT NEONATAL, 1
chr6_cox_hap1	3273868	3273869	NEU1	GLU	TER	377	608272.0001	SIALIDOSIS, TYPE I
chr6_cox_hap1	3274147	3274148	NEU1	PRO	SER	316	608272.0012	SIALIDOSIS, TYPE I
chr6_cox_hap1	3274200	3274201	NEU1	ALA	VAL	298	608272.0015	SIALIDOSIS, TYPE II
chr6_cox_hap1	3274488	3274489	NEU1	PHE	TYR	260	608272.0004	SIALIDOSIS, TYPE II
chr6_cox_hap1	3274540	3274541	NEU1	GLY	ARG	243	608272.0008	SIALIDOSIS, TYPE I
chr6_cox_hap1	3274549	3274550	NEU1	TRP	ARG	240	608272.0011	SIALIDOSIS, TYPE II
chr6_cox_hap1	3274593	3274594	NEU1	ARG	PRO	225	608272.0014	SIALIDOSIS, TYPE II
chr6_cox_hap1	3274618	3274619	NEU1	VAL	MET	217	608272.0007	SIALIDOSIS, TYPE I
chr6_cox_hap1	3276109	3276110	NEU1	LEU	ARG	91	608272.0002	SIALIDOSIS, TYPE II
chr6_cox_hap1	3276142	3276143	NEU1	PRO	LEU	80	608272.0010	SIALIDOSIS, TYPE II
chr6_cox_hap1	3276722	3276725	NEU1	TRP	TER	29	608272.0009	SIALIDOSIS, TYPE II
chr6_cox_hap1	3276740	3276743	NEU1	TRP	TER	23	608272.0016	SIALIDOSIS, TYPE II
chr6_cox_hap1	3350066	3350067	C2	GLU	ASP	318	217000.0004	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6_cox_hap1	3357128	3357129	C2	GLU	ASP	318	217000.0004	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6_cox_hap1	3360286	3360287	CFB	LEU	HIS	9	138470.0003	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6_cox_hap1	3360442	3360443	CFB	ARG	GLN	32	138470.0004	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6_cox_hap1	3362079	3362082	CFB	PHE	LEU	286	138470.0005	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
chr6_cox_hap1	3362482	3362483	CFB	LYS	GLU	323	138470.0006	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
chr6_cox_hap1	3414357	3414358	CYP21A2	ILE	ASN	172	201910.0001	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE
chr6_cox_hap1	3415074	3415075	CYP21A2	GLY	SER	292	201910.0007	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE
chr6_cox_hap1	3415699	3415702	CYP21A2	TRP	TER	406	201910.0022	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE
chr6_cox_hap1	3415699	3415702	C2	SER	PHE	189	217000.0002	C2 DEFICIENCY, TYPE II
chr6_cox_hap1	3416027	3416028	CYP21A2	PRO	SER	453	201910.0009	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LATE-ONSET FORM
chr6_cox_hap1	3416027	3416028	CYP21A2	PRO	SER	453	201910.0010	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE
chr6_cox_hap1	4520504	4520505	COL11A2	GLY	GLU	955	120290.0004	WEISSENBACHER-ZWEYMULLER SYNDROME OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROZYGOUS, INCLUDED
chr6_cox_hap1	4524422	4524423	COL11A2	PRO	THR	621	120290.0010	DEAFNESS, AUTOSOMAL RECESSIVE 53
chr6_cox_hap1	4526082	4526083	COL11A2	PRO	THR	621	120290.0010	DEAFNESS, AUTOSOMAL RECESSIVE 53
chr6_qbl_hap2	898431	898432	ZFP57	CYS	TER	241	612192.0001	DIABETES MELLITUS, TRANSIENT NEONATAL, 1
chr6_qbl_hap2	2334510	2334511	CDSN	GLN	TER	215	602593.0001	HYPOTRICHOSIS SIMPLEX OF SCALP
chr6_qbl_hap2	2334555	2334556	CDSN	GLN	TER	200	602593.0002	HYPOTRICHOSIS SIMPLEX OF SCALP
chr6_qbl_hap2	3075352	3075353	NEU1	GLU	TER	377	608272.0001	SIALIDOSIS, TYPE I
chr6_qbl_hap2	3075631	3075632	NEU1	PRO	SER	316	608272.0012	SIALIDOSIS, TYPE I
chr6_qbl_hap2	3075684	3075685	NEU1	ALA	VAL	298	608272.0015	SIALIDOSIS, TYPE II
chr6_qbl_hap2	3075972	3075973	NEU1	PHE	TYR	260	608272.0004	SIALIDOSIS, TYPE II
chr6_qbl_hap2	3076024	3076025	NEU1	GLY	ARG	243	608272.0008	SIALIDOSIS, TYPE I
chr6_qbl_hap2	3076033	3076034	NEU1	TRP	ARG	240	608272.0011	SIALIDOSIS, TYPE II
chr6_qbl_hap2	3076077	3076078	NEU1	ARG	PRO	225	608272.0014	SIALIDOSIS, TYPE II
chr6_qbl_hap2	3076102	3076103	NEU1	VAL	MET	217	608272.0007	SIALIDOSIS, TYPE I
chr6_qbl_hap2	3077593	3077594	NEU1	LEU	ARG	91	608272.0002	SIALIDOSIS, TYPE II
chr6_qbl_hap2	3077626	3077627	NEU1	PRO	LEU	80	608272.0010	SIALIDOSIS, TYPE II
chr6_qbl_hap2	3078206	3078209	NEU1	TRP	TER	29	608272.0009	SIALIDOSIS, TYPE II
chr6_qbl_hap2	3078224	3078227	NEU1	TRP	TER	23	608272.0016	SIALIDOSIS, TYPE II
chr6_qbl_hap2	3151543	3151544	C2	GLU	ASP	318	217000.0004	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6_qbl_hap2	3158606	3158607	C2	GLU	ASP	318	217000.0004	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6_qbl_hap2	3161764	3161765	CFB	LEU	HIS	9	138470.0003	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6_qbl_hap2	3161920	3161921	CFB	ARG	GLN	32	138470.0004	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
chr6_qbl_hap2	3163557	3163560	CFB	PHE	LEU	286	138470.0005	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
chr6_qbl_hap2	3163960	3163961	CFB	LYS	GLU	323	138470.0006	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
chr6_qbl_hap2	3222200	3222201	CYP21A2	ILE	ASN	172	201910.0001	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE
chr6_qbl_hap2	3222917	3222918	CYP21A2	GLY	SER	292	201910.0007	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE
chr6_qbl_hap2	3223542	3223545	CYP21A2	TRP	TER	406	201910.0022	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE
chr6_qbl_hap2	3223542	3223545	C2	SER	PHE	189	217000.0002	C2 DEFICIENCY, TYPE II
chr6_qbl_hap2	3223870	3223871	CYP21A2	PRO	SER	453	201910.0009	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LATE-ONSET FORM
chr6_qbl_hap2	3223870	3223871	CYP21A2	PRO	SER	453	201910.0010	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE
chr6_qbl_hap2	4326510	4326511	COL11A2	GLY	GLU	955	120290.0004	WEISSENBACHER-ZWEYMULLER SYNDROME OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROZYGOUS, INCLUDED
chr6_qbl_hap2	4330429	4330430	COL11A2	PRO	THR	621	120290.0010	DEAFNESS, AUTOSOMAL RECESSIVE 53
chr6_qbl_hap2	4332089	4332090	COL11A2	PRO	THR	621	120290.0010	DEAFNESS, AUTOSOMAL RECESSIVE 53
chr7	1904412	1904413	MAD1L1	TYR	TER	649	602686.0001	LYMPHOMA, SOMATIC
chr7	2231686	2231687	MAD1L1	ARG	CYS	59	602686.0002	PROSTATE CANCER, SOMATIC
chr7	2531458	2531461	LFNG	PHE	LEU	188	602576.0001	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
chr7	2531883	2531886	LFNG	PHE	LEU	188	602576.0001	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
chr7	5534692	5534693	ACTB	ARG	TRP	183	102630.0001	DYSTONIA, JUVENILE-ONSET
chr7	5983785	5983786	PMS2	ARG	TER	802	600259.0004	MISMATCH REPAIR CANCER SYNDROME
chr7	5993039	5993040	PMS2	ARG	TER	628	600259.0009	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
chr7	6008746	6008747	PMS2	ARG	TER	134	600259.0001	MISMATCH REPAIR CANCER SYNDROME
chr7	6010159	6010160	PMS2	CYS	TER	73	600259.0016	MISMATCH REPAIR CANCER SYNDROME
chr7	6012074	6012075	PMS2	SER	ILE	46	600259.0012	MISMATCH REPAIR CANCER SYNDROME
chr7	19122906	19122907	TWIST1	SER	LEU	188	601622.0014	CRANIOSYNOSTOSIS, TYPE 1
chr7	19122913	19122914	TWIST1	ALA	THR	186	601622.0013	CRANIOSYNOSTOSIS, TYPE 1
chr7	19122928	19122929	TWIST1	GLU	TER	181	601622.0008	SAETHRE-CHOTZEN SYNDROME
chr7	19123003	19123004	TWIST1	ILE	VAL	156	601622.0010	SAETHRE-CHOTZEN SYNDROME
chr7	19123113	19123114	TWIST1	GLN	PRO	119	601622.0002	SAETHRE-CHOTZEN SYNDROME
chr7	19123160	19123161	TWIST1	TYR	TER	103	601622.0001	SAETHRE-CHOTZEN SYNDROME
chr7	19123258	19123259	TWIST1	GLN	TER	71	601622.0012	SAETHRE-CHOTZEN SYNDROME
chr7	19123387	19123388	TWIST1	GLN	TER	28	601622.0011	SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES
chr7	22984587	22984588	FAM126A	LEU	PRO	53	610531.0003	LEUKODYSTROPHY, HYPOMYELINATING, 5
chr7	23146918	23146919	KLHL7	SER	ASN	150	611119.0001	RETINITIS PIGMENTOSA 42
chr7	24291403	24291404	NPY	LEU	PRO	7	162640.0001	NEUROPEPTIDE Y POLYMORPHISM
chr7	25130139	25130140	CYCS	GLY	SER	42	123970.0001	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4
chr7	27101972	27101973	HOXA1	TYR	TER	28	142955.0002	BOSLEY-SALIH-ALORAINY SYNDROME
chr7	27101980	27101981	HOXA1	ARG	TER	26	142955.0003	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
chr7	27107444	27107445	HOXA2	GLN	LYS	186	604685.0001	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE
chr7	27204403	27204406	HOXA13	TRP	TER	369	142959.0001	HAND-FOOT-GENITAL SYNDROME
chr7	30918161	30918162	AQP1	PRO	LEU	38	107776.0002	AQUAPORIN 1 DEFICIENCY COLTON-NULL, INCLUDED
chr7	30918182	30918183	AQP1	ALA	VAL	45	107776.0001	COLTON BLOOD GROUP POLYMORPHISM
chr7	30975255	30975256	GHRHR	GLU	TER	72	139191.0001	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
chr7	30977322	30977323	GHRHR	LEU	HIS	144	139191.0003	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
chr7	30980191	30980192	GHRHR	ALA	GLU	222	139191.0005	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
chr7	30980251	30980252	GHRHR	PHE	CYS	242	139191.0004	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
chr7	30982578	30982579	GHRHR	LYS	GLU	329	139191.0006	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB
chr7	33021877	33021878	NT5C3	GLY	ARG	241	606224.0010	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
chr7	33021994	33021995	NT5C3	GLY	ARG	241	606224.0010	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
chr7	33023597	33023598	NT5C3	ASN	SER	190	606224.0008	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
chr7	33023623	33023624	NT5C3	TYR	TER	181	606224.0005	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
chr7	33023637	33023638	NT5C3	GLN	TER	177	606224.0002	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
chr7	33027453	33027454	NT5C3	ASP	VAL	98	606224.0001	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
chr7	33101527	33101528	RP9	ASP	GLY	170	607331.0002	RETINITIS PIGMENTOSA 9
chr7	33102686	33102687	RP9	HIS	LEU	137	607331.0001	RETINITIS PIGMENTOSA 9
chr7	34784637	34784638	NPSR1	ASN	ILE	107	608595.0001	ASTHMA SUSCEPTIBILITY 2
chr7	35251156	35251157	TBX20	GLN	TER	195	606061.0002	ATRIAL SEPTAL DEFECT 4
chr7	35254902	35254903	TBX20	ILE	MET	152	606061.0001	ATRIAL SEPTAL DEFECT 4
chr7	37894432	37894433	TXNDC3	LEU	TER	426	607421.0001	CILIARY DYSKINESIA, PRIMARY, 6
chr7	40194692	40194693	C7ORF10	ARG	TER	108	609187.0003	GLUTARIC ACIDURIA III
chr7	40243787	40243788	C7ORF10	ARG	TER	142	609187.0002	GLUTARIC ACIDURIA III
chr7	40465320	40465321	C7ORF10	ARG	TRP	299	609187.0001	GLUTARIC ACIDURIA III
chr7	41971756	41971757	GLI3	GLU	TER	1147	165240.0006	PALLISTER-HALL SYNDROME
chr7	41972395	41972396	GLI3	ALA	PRO	934	165240.0013	ACROCALLOSAL SYNDROME
chr7	41973775	41973776	GLI3	ARG	TER	792	165240.0016	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
chr7	41973970	41973971	GLI3	GLY	ARG	727	165240.0009	POSTAXIAL POLYDACTYLY, TYPE A1/B
chr7	41974030	41974031	GLI3	PRO	SER	707	165240.0019	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
chr7	41978636	41978637	GLI3	ARG	TER	643	165240.0008	POSTAXIAL POLYDACTYLY, TYPE A1/B
chr7	41978690	41978691	GLI3	ARG	TRP	625	165240.0012	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
chr7	41984742	41984743	GLI3	GLU	TER	543	165240.0010	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
chr7	42029602	42029603	GLI3	GLN	TER	496	165240.0018	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
chr7	42046321	42046322	GLI3	ARG	TER	290	165240.0014	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME PREAXIAL POLYDACTYLY, TYPE IV, INCLUDED
chr7	44071363	44071364	PGAM2	GLY	ASP	97	612931.0004	GLYCOGEN STORAGE DISEASE X
chr7	44071385	44071386	PGAM2	ARG	TRP	90	612931.0003	GLYCOGEN STORAGE DISEASE X
chr7	44071387	44071388	PGAM2	GLU	ALA	89	612931.0002	GLYCOGEN STORAGE DISEASE X
chr7	44071421	44071424	PGAM2	TRP	TER	78	612931.0001	GLYCOGEN STORAGE DISEASE X
chr7	44151290	44151291	GCK	ALA	VAL	456	138079.0012	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
chr7	44151294	44151295	GCK	VAL	MET	455	138079.0009	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
chr7	44151738	44151739	GCK	ALA	THR	378	138079.0014	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
chr7	44151741	44151742	GCK	ALA	THR	378	138079.0014	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
chr7	44152710	44152711	GCK	GLY	ARG	299	138079.0005	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
chr7	44153801	44153802	GCK	GLU	TER	279	138079.0001	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
chr7	44153843	44153844	GCK	GLU	TER	265	138079.0008	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
chr7	44153855	44153856	GCK	GLY	ARG	261	138079.0004	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
chr7	44153953	44153954	GCK	THR	MET	228	138079.0003	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
chr7	44153953	44153954	GCK	THR	MET	228	138079.0011	DIABETES MELLITUS, PERMANENT NEONATAL MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II, INCLUDED
chr7	44155918	44155919	GCK	TYR	CYS	214	138079.0013	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
chr7	44155921	44155922	GCK	TYR	CYS	214	138079.0013	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
chr7	44155933	44155934	GCK	MET	LYS	210	138079.0010	DIABETES MELLITUS, PERMANENT NEONATAL MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II, INCLUDED
chr7	44156115	44156116	GCK	ARG	TER	186	138079.0002	DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE-ONSET
chr7	44157171	44157172	GCK	SER	PRO	131	138079.0007	DIABETES MELLITUS, GESTATIONAL
chr7	44522223	44522224	NPC1L1	ILE	ASN	1233	608010.0002	EZETIMIBE, NONRESPONSE TO
chr7	44546357	44546358	NPC1L1	VAL	LEU	55	608010.0001	EZETIMIBE, NONRESPONSE TO
chr7	45006457	45006458	CCM2	MET	VAL	1	607929.0005	CEREBRAL CAVERNOUS MALFORMATIONS 2
chr7	45033828	45033829	CCM2	MET	VAL	1	607929.0005	CEREBRAL CAVERNOUS MALFORMATIONS 2
chr7	45070616	45070617	CCM2	GLN	TER	107	607929.0002	CEREBRAL CAVERNOUS MALFORMATIONS 2
chr7	45074623	45074624	CCM2	LEU	ARG	198	607929.0007	CEREBRAL CAVERNOUS MALFORMATIONS 2
chr7	45074686	45074687	CCM2	LEU	ARG	198	607929.0007	CEREBRAL CAVERNOUS MALFORMATIONS 2
chr7	50530560	50530563	DDC	PHE	LEU	309	107930.0003	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
chr7	50534392	50534393	DDC	ALA	THR	275	107930.0006	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
chr7	50539216	50539217	DDC	SER	PHE	250	107930.0002	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
chr7	50564530	50564533	DDC	SER	ARG	147	107930.0004	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
chr7	50575117	50575118	DDC	GLY	SER	102	107930.0001	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
chr7	50575149	50575150	DDC	ALA	VAL	91	107930.0005	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
chr7	55209200	55209201	EGFR	GLY	CYS	719	131550.0004	NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN, SOMATIC
chr7	55209200	55209201	EGFR	GLY	SER	719	131550.0005	NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN, SOMATIC
chr7	55216564	55216565	EGFR	THR	MET	790	131550.0006	NONSMALL CELL LUNG CANCER, RESISTANCE TO TYROSINE KINASE INHIBITOR IN
chr7	55227008	55227009	EGFR	LEU	ARG	858	131550.0002	NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN, SOMATIC ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN, SOMATIC, INCLUDED
chr7	56054906	56054907	PSPH	MET	THR	52	172480.0002	PHOSPHOSERINE PHOSPHATASE DEFICIENCY
chr7	56056305	56056306	PSPH	ASP	ASN	32	172480.0001	PHOSPHOSERINE PHOSPHATASE DEFICIENCY
chr7	65063393	65063394	GUSB	TRP	CYS	627	611499.0015	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65063418	65063419	GUSB	ALA	VAL	619	611499.0001	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65063443	65063444	GUSB	ARG	TRP	611	611499.0005	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65066803	65066804	GUSB	ARG	LEU	577	611499.0014	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65070286	65070289	GUSB	TRP	TER	507	611499.0008	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65070321	65070322	GUSB	TYR	CYS	495	611499.0007	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65076771	65076774	GUSB	TRP	TER	446	611499.0011	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65077047	65077048	GUSB	ARG	CYS	382	611499.0002	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65077344	65077345	GUSB	ALA	VAL	354	611499.0004	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65077355	65077356	GUSB	LYS	ASN	350	611499.0013	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65081898	65081899	GUSB	ARG	TRP	216	611499.0003	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65082203	65082204	GUSB	LEU	PHE	176	611499.0012	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65082287	65082288	GUSB	PRO	SER	148	611499.0006	MUCOPOLYSACCHARIDOSIS TYPE VII
chr7	65184864	65184865	ASL	ARG	CYS	95	608310.0001	ARGININOSUCCINIC ACIDURIA
chr7	65189172	65189173	ASL	VAL	MET	178	608310.0005	ARGININOSUCCINIC ACIDURIA
chr7	65191535	65191536	ASL	GLN	ARG	286	608310.0002	ARGININOSUCCINIC ACIDURIA
chr7	65194499	65194500	ASL	ARG	CYS	379	608310.0006	ARGININOSUCCINIC ACIDURIA
chr7	65194987	65194988	ASL	ARG	CYS	385	608310.0004	ARGININOSUCCINIC ACIDURIA
chr7	65735846	65735847	KCTD7	ARG	TER	99	611725.0001	EPILEPSY, PROGRESSIVE MYOCLONIC 3
chr7	66096707	66096708	SBDS	LYS	TER	62	607444.0001	SHWACHMAN-DIAMOND SYNDROME
chr7	66097815	66097816	SBDS	ASN	LYS	8	607444.0003	SHWACHMAN-DIAMOND SYNDROME
chr7	73096166	73096167	ELN	TYR	TER	150	130160.0013	SUPRAVALVULAR AORTIC STENOSIS
chr7	73097543	73097544	ELN	LYS	TER	176	130160.0014	SUPRAVALVULAR AORTIC STENOSIS
chr7	73108945	73108946	ELN	GLN	TER	442	130160.0003	SUPRAVALVULAR AORTIC STENOSIS
chr7	73829600	73829601	NCF1	ARG	GLN	42	608512.0003	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I
chr7	73831579	73831580	NCF1	GLN	TER	91	608512.0005	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I
chr7	73831641	73831642	NCF1	CYS	TER	111	608512.0006	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I
chr7	73835339	73835340	NCF1	GLY	SER	192	608512.0007	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I
chr7	75450801	75450802	POR	ALA	PRO	287	124015.0002	POR DEFICIENCY
chr7	75452432	75452433	POR	ARG	HIS	457	124015.0005	POR DEFICIENCY DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY, INCLUDED
chr7	75452908	75452909	POR	VAL	GLU	492	124015.0001	POR DEFICIENCY
chr7	75453048	75453049	POR	GLY	ARG	539	124015.0016	POR DEFICIENCY DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY, INCLUDED
chr7	75453212	75453213	POR	CYS	TYR	569	124015.0003	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
chr7	75453239	75453240	POR	TYR	CYS	578	124015.0012	POR DEFICIENCY
chr7	75453418	75453419	POR	VAL	PHE	608	124015.0004	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
chr7	75770259	75770260	HSPB1	LEU	MET	99	602195.0008	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE
chr7	75771068	75771069	HSPB1	ARG	TRP	127	602195.0002	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, INCLUDED
chr7	75771093	75771094	HSPB1	SER	PHE	135	602195.0001	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
chr7	75771095	75771096	HSPB1	ARG	TRP	136	602195.0005	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
chr7	75771107	75771108	HSPB1	ARG	GLY	140	602195.0007	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
chr7	75771259	75771260	HSPB1	THR	ILE	151	602195.0003	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
chr7	75771351	75771352	HSPB1	PRO	SER	182	602195.0006	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
chr7	75771352	75771353	HSPB1	PRO	LEU	182	602195.0004	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
chr7	80123938	80123939	CD36	PRO	SER	90	173510.0001	PLATELET GLYCOPROTEIN IV DEFICIENCY
chr7	80140643	80140644	CD36	ILE	LEU	413	173510.0007	PLATELET GLYCOPROTEIN IV DEFICIENCY
chr7	81219501	81219502	HGF	SER	SER	165	142409.0001	DEAFNESS, AUTOSOMAL RECESSIVE 39
chr7	82835057	82835058	SEMA3E	SER	LEU	703	608166.0001	CHARGE SYNDROME
chr7	86873544	86873545	ABCB4	PRO	SER	1161	171060.0007	GALLBLADDER DISEASE 1
chr7	86879199	86879200	ABCB4	ARG	TER	957	171060.0002	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, INCLUDED
chr7	86898779	86898780	ABCB4	ARG	GLN	590	171060.0012	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY
chr7	86907012	86907013	ABCB4	ALA	ASP	546	171060.0004	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY
chr7	86910937	86910938	ABCB4	TYR	HIS	403	171060.0010	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
chr7	86914331	86914332	ABCB4	SER	PHE	320	171060.0005	GALLBLADDER DISEASE 1 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, INCLUDED
chr7	86914331	86914332	ABCB4	THR	VAL	175	171060.0006	GALLBLADDER DISEASE 1
chr7	86920301	86920302	ABCB4	ARG	TER	144	171060.0011	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY
chr7	87033469	87033470	ABCB1	GLY	VAL	185	171050.0001	COLCHICINE RESISTANCE
chr7	91702780	91702781	KRIT1	GLN	GLU	201	604214.0009	CEREBRAL CAVERNOUS MALFORMATIONS 1
chr7	91703737	91703738	KRIT1	ASP	GLY	137	604214.0008	CEREBRAL CAVERNOUS MALFORMATIONS 1
chr7	91968811	91968812	PEX1	GLY	ASP	843	602136.0001	REFSUM DISEASE, INFANTILE FORM NEONATAL ADRENOLEUKODYSTROPHY, INCLUDED
chr7	91968811	91968812	PEX1	GLY	ASP	843	602136.0001	 ZELLWEGER SYNDROME, INCLUDED
chr7	91972061	91972062	PEX1	LEU	PRO	664	602136.0002	ZELLWEGER SYNDROME NEONATAL ADRENOLEUKODYSTROPHY, INCLUDED
chr7	92568863	92568864	SAMD9	LYS	GLU	1495	610456.0001	TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC
chr7	93876053	93876054	COL1A2	GLY	CYS	259	120160.0017	OSTEOGENESIS IMPERFECTA, TYPE II
chr7	93877713	93877714	COL1A2	GLY	ALA	379	120160.0050	OSTEOGENESIS IMPERFECTA, TYPE IV
chr7	93879840	93879841	COL1A2	GLY	CYS	472	120160.0019	OSTEOGENESIS IMPERFECTA, TYPE II
chr7	93880330	93880331	COL1A2	GLY	SER	502	120160.0034	OSTEOGENESIS IMPERFECTA, TYPE II
chr7	93881169	93881170	COL1A2	GLY	ASP	547	120160.0010	OSTEOGENESIS IMPERFECTA, TYPE II
chr7	93882492	93882493	COL1A2	GLY	ASP	580	120160.0029	OSTEOGENESIS IMPERFECTA, TYPE II
chr7	93882510	93882511	COL1A2	GLY	VAL	586	120160.0023	OSTEOGENESIS IMPERFECTA, TYPE IV OSTEOGENESIS IMPERFECTA, TYPE III, INCLUDED
chr7	93882510	93882511	COL1A2	GLY	VAL	586	120160.0038	OSTEOGENESIS IMPERFECTA, TYPE III
chr7	93885043	93885044	COL1A2	GLY	CYS	646	120160.0013	OSTEOGENESIS IMPERFECTA, TYPE IV
chr7	93885043	93885044	COL1A2	GLY	ASP	976	120160.0015	OSTEOGENESIS IMPERFECTA, TYPE II
chr7	93885755	93885756	COL1A2	GLY	SER	661	120160.0030	OSTEOPOROSIS, POSTMENOPAUSAL
chr7	93887480	93887481	COL1A2	GLY	ARG	694	120160.0025	OSTEOGENESIS IMPERFECTA, TYPE II
chr7	93887851	93887852	COL1A2	GLY	SER	751	120160.0039	OSTEOGENESIS IMPERFECTA, TYPE III, AUTOSOMAL RECESSIVE
chr7	93887851	93887852	COL1A2	GLY	TYR	277	120160.0044	OSTEOGENESIS IMPERFECTA, TYPE III
chr7	93890214	93890215	COL1A2	GLY	ASP	805	120160.0016	OSTEOGENESIS IMPERFECTA, TYPE II
chr7	93891592	93891593	COL1A2	GLY	SER	859	120160.0033	OSTEOGENESIS IMPERFECTA, TYPE III
chr7	93891610	93891611	COL1A2	GLY	SER	865	120160.0011	OSTEOGENESIS IMPERFECTA, TYPE II
chr7	93892410	93892411	COL1A2	GLY	ASP	907	120160.0008	OSTEOGENESIS IMPERFECTA, TYPE II
chr7	93893689	93893690	COL1A2	GLY	ALA	1006	120160.0037	OSTEOGENESIS IMPERFECTA, TYPE III
chr7	93893706	93893707	COL1A2	GLY	ARG	1012	120160.0004	OSTEOGENESIS IMPERFECTA, TYPE IV-B
chr7	93895614	93895615	COL1A2	GLU	TER	1201	120160.0051	EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM
chr7	94066161	94066162	SGCE	ARG	TER	372	604149.0009	MYOCLONUS-DYSTONIA SYNDROME
chr7	94086080	94086081	SGCE	LEU	ARG	196	604149.0006	MYOCLONUS-DYSTONIA SYNDROME
chr7	94095535	94095536	SGCE	ARG	TER	102	604149.0002	MYOCLONUS-DYSTONIA SYNDROME
chr7	94095550	94095551	SGCE	ARG	TER	97	604149.0001	MYOCLONUS-DYSTONIA SYNDROME
chr7	94775381	94775382	PON1	GLN	ARG	192	168820.0001	 CORONARY ARTERY SPASM, SUSCEPTIBILITY TO, INCLUDED
chr7	94775381	94775382	PON1	GLN	ARG	192	168820.0001	PON1 ENZYME ACTIVITY, VARIATION IN CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED
chr7	94784019	94784020	PON1	LEU	MET	55	168820.0002	 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5, INCLUDED
chr7	94784019	94784020	PON1	LEU	MET	55	168820.0002	PON1 ENZYME ACTIVITY, VARIATION IN CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED
chr7	94878951	94878952	PON2	ALA	GLY	148	602447.0002	PARAOXONASE 2 POLYMORPHISM
chr7	95588980	95588981	SLC25A13	ARG	GLN	588	603859.0007	CITRULLINEMIA, TYPE II, ADULT-ONSET
chr7	95658436	95658437	SLC25A13	SER	TER	225	603859.0004	CITRULLINEMIA, TYPE II, ADULT-ONSET
chr7	100062388	100062389	TFR2	GLN	PRO	690	604720.0005	HEMOCHROMATOSIS, TYPE 3
chr7	100064837	100064838	TFR2	ARG	GLN	455	604720.0004	HEMOCHROMATOSIS, TYPE 1, MODIFIER OF
chr7	100068658	100068659	TFR2	TYR	TER	250	604720.0001	HEMOCHROMATOSIS, TYPE 3
chr7	100069073	100069074	TFR2	MET	LYS	172	604720.0003	HEMOCHROMATOSIS, TYPE 3
chr7	100645100	100645101	PLOD3	ASN	SER	223	603066.0001	LYSYL HYDROXYLASE 3 DEFICIENCY
chr7	107089406	107089407	SLC26A4	GLU	GLN	29	605646.0028	ENLARGED VESTIBULAR AQUEDUCT
chr7	107099910	107099911	SLC26A4	SER	THR	133	605646.0023	PENDRED SYNDROME
chr7	107099925	107099926	SLC26A4	VAL	PHE	138	605646.0024	PENDRED SYNDROME
chr7	107102006	107102007	SLC26A4	THR	ILE	193	605646.0019	PENDRED SYNDROME
chr7	107102650	107102651	SLC26A4	GLY	VAL	209	605646.0009	ENLARGED VESTIBULAR AQUEDUCT
chr7	107102731	107102732	SLC26A4	LEU	PRO	236	605646.0005	PENDRED SYNDROME
chr7	107116734	107116737	SLC26A4	PHE	LEU	335	605646.0031	ENLARGED VESTIBULAR AQUEDUCT, DIGENIC
chr7	107116836	107116837	SLC26A4	LYS	GLU	369	605646.0010	ENLARGED VESTIBULAR AQUEDUCT
chr7	107116846	107116847	SLC26A4	ALA	VAL	372	605646.0014	ENLARGED VESTIBULAR AQUEDUCT
chr7	107117805	107117806	SLC26A4	GLU	GLY	384	605646.0008	PENDRED SYNDROME
chr7	107117805	107117806	SLC26A4	GLU	GLY	384	605646.0026	PENDRED SYNDROME
chr7	107117900	107117901	SLC26A4	THR	PRO	416	605646.0006	PENDRED SYNDROME
chr7	107122153	107122154	SLC26A4	LEU	TRP	445	605646.0018	PENDRED SYNDROME
chr7	107123643	107123644	SLC26A4	ILE	LEU	490	605646.0004	ENLARGED VESTIBULAR AQUEDUCT
chr7	107123664	107123665	SLC26A4	GLY	SER	497	605646.0004	ENLARGED VESTIBULAR AQUEDUCT
chr7	107123715	107123716	SLC26A4	GLN	LYS	514	605646.0030	ENLARGED VESTIBULAR AQUEDUCT
chr7	107125765	107125766	SLC26A4	TYR	HIS	530	605646.0025	PENDRED SYNDROME
chr7	107129703	107129704	SLC26A4	PHE	CYS	667	605646.0001	PENDRED SYNDROME
chr7	107137806	107137807	SLC26A4	THR	MET	721	605646.0012	ENLARGED VESTIBULAR AQUEDUCT PENDRED SYNDROME, INCLUDED
chr7	107137812	107137813	SLC26A4	HIS	ARG	723	605646.0011	ENLARGED VESTIBULAR AQUEDUCT PENDRED SYNDROME, INCLUDED
chr7	107207371	107207374	SLC26A3	TRP	TER	462	126650.0008	CHLORIDE DIARRHEA, CONGENITAL
chr7	107218739	107218740	SLC26A3	GLY	TER	187	126650.0006	CHLORIDE DIARRHEA, CONGENITAL
chr7	107219521	107219522	SLC26A3	HIS	LEU	124	126650.0002	CHLORIDE DIARRHEA, CONGENITAL
chr7	107343186	107343187	DLD	GLY	CYS	229	238331.0006	MAPLE SYRUP URINE DISEASE, TYPE III
chr7	107344987	107344988	DLD	MET	VAL	361	238331.0010	MAPLE SYRUP URINE DISEASE, TYPE III
chr7	107345029	107345030	DLD	GLU	LYS	375	238331.0009	MAPLE SYRUP URINE DISEASE, TYPE III
chr7	107345084	107345085	DLD	ILE	THR	393	238331.0007	MAPLE SYRUP URINE DISEASE, TYPE III LEIGH SYNDROME, INCLUDED
chr7	114069906	114069907	FOXP2	ARG	TER	328	605317.0002	DEVELOPMENTAL VERBAL DYSPRAXIA
chr7	114089365	114089366	FOXP2	ARG	HIS	553	605317.0001	DEVELOPMENTAL VERBAL DYSPRAXIA
chr7	115953895	115953896	CAV1	GLU	TER	38	601047.0001	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3
chr7	115986244	115986245	CAV1	GLU	TER	38	601047.0001	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3
chr7	116204699	116204700	MET	HIS	ARG	1112	164860.0007	RENAL CELL CARCINOMA, PAPILLARY, 2
chr7	116206116	116206117	MET	MET	THR	1149	164860.0001	RENAL CELL CARCINOMA, PAPILLARY, 2
chr7	116206242	116206243	MET	THR	ILE	1191	164860.0008	HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC
chr7	116209316	116209317	MET	VAL	LEU	1206	164860.0002	RENAL CELL CARCINOMA, PAPILLARY, 2
chr7	116209337	116209338	MET	LEU	VAL	1213	164860.0006	RENAL CELL CARCINOMA, PAPILLARY, SPORADIC
chr7	116210618	116210619	MET	VAL	ILE	1238	164860.0003	RENAL CELL CARCINOMA, PAPILLARY, 2
chr7	116210642	116210643	MET	ASP	ASN	1246	164860.0004	RENAL CELL CARCINOMA, PAPILLARY, 2
chr7	116210649	116210650	MET	TYR	CYS	1248	164860.0005	RENAL CELL CARCINOMA, PAPILLARY, 2
chr7	116210691	116210692	MET	LYS	ARG	1262	164860.0010	HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC
chr7	116210710	116210711	MET	MET	ILE	1268	164860.0009	HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC
chr7	116907402	116907403	CFTR	GLU	TER	7	602421.0131	CYSTIC FIBROSIS
chr7	116936327	116936330	CFTR	TRP	TER	57	602421.0075	CYSTIC FIBROSIS
chr7	116936412	116936413	CFTR	GLY	GLU	85	602421.0038	CYSTIC FIBROSIS
chr7	116936429	116936430	CFTR	GLY	ARG	91	602421.0079	CYSTIC FIBROSIS
chr7	116958188	116958189	CFTR	GLU	LYS	92	602421.0077	CYSTIC FIBROSIS
chr7	116958188	116958189	CFTR	GLU	TER	92	602421.0082	CYSTIC FIBROSIS
chr7	116958240	116958241	CFTR	TYR	CYS	109	602421.0091	CYSTIC FIBROSIS
chr7	116958242	116958243	CFTR	ASP	HIS	110	602421.0004	CYSTIC FIBROSIS
chr7	116958264	116958265	CFTR	ARG	HIS	117	602421.0005	CYSTIC FIBROSIS VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF, INCLUDED
chr7	116962574	116962575	CFTR	LEU	TRP	206	602421.0084	CYSTIC FIBROSIS
chr7	116962607	116962608	CFTR	GLU	GLY	217	602421.0134	CYSTIC FIBROSIS
chr7	116967450	116967453	CFTR	PHE	LEU	311	602421.0049	CYSTIC FIBROSIS
chr7	116967519	116967520	CFTR	ARG	TRP	334	602421.0034	CYSTIC FIBROSIS
chr7	116967532	116967533	CFTR	THR	ILE	338	602421.0087	CYSTIC FIBROSIS
chr7	116967559	116967560	CFTR	ARG	PRO	347	602421.0006	CYSTIC FIBROSIS
chr7	116967559	116967560	CFTR	ARG	LEU	347	602421.0067	CYSTIC FIBROSIS
chr7	116967559	116967560	CFTR	ARG	HIS	347	602421.0078	CYSTIC FIBROSIS
chr7	116967565	116967566	CFTR	ALA	VAL	349	602421.0068	CYSTIC FIBROSIS
chr7	116967574	116967575	CFTR	ARG	GLN	352	602421.0092	CYSTIC FIBROSIS
chr7	116967594	116967595	CFTR	GLN	LYS	359	602421.0065	CYSTIC FIBROSIS
chr7	116967598	116967599	CFTR	THR	LYS	360	602421.0065	CYSTIC FIBROSIS
chr7	116976084	116976085	CFTR	ALA	GLU	455	602421.0007	CYSTIC FIBROSIS
chr7	116976093	116976094	CFTR	GLY	VAL	458	602421.0028	CYSTIC FIBROSIS
chr7	116986798	116986799	CFTR	GLY	CYS	480	602421.0083	CYSTIC FIBROSIS
chr7	116986835	116986836	CFTR	SER	PHE	492	602421.0051	CYSTIC FIBROSIS
chr7	116986837	116986838	CFTR	GLN	TER	493	602421.0003	CYSTIC FIBROSIS
chr7	116986876	116986877	CFTR	ILE	VAL	506	602421.0024	CYSTIC FIBROSIS
chr7	116986883	116986884	CFTR	PHE	CYS	508	602421.0025	CYSTIC FIBROSIS
chr7	116986918	116986919	CFTR	VAL	PHE	520	602421.0046	CYSTIC FIBROSIS
chr7	116986932	116986933	CFTR	CYS	TER	524	602421.0047	CYSTIC FIBROSIS
chr7	117015067	117015068	CFTR	GLY	TER	542	602421.0009	CYSTIC FIBROSIS
chr7	117015067	117015068	CFTR	GLY	TER	542	602421.0095	CYSTIC FIBROSIS
chr7	117015088	117015091	CFTR	SER	ARG	549	602421.0012	CYSTIC FIBROSIS
chr7	117015089	117015090	CFTR	SER	ASN	549	602421.0010	CYSTIC FIBROSIS
chr7	117015089	117015090	CFTR	SER	ILE	549	602421.0011	CYSTIC FIBROSIS
chr7	117015094	117015095	CFTR	GLY	SER	551	602421.0037	CYSTIC FIBROSIS
chr7	117015095	117015096	CFTR	GLY	ASP	551	602421.0013	CYSTIC FIBROSIS
chr7	117015097	117015098	CFTR	GLN	TER	552	602421.0096	CYSTIC FIBROSIS
chr7	117015100	117015101	CFTR	ARG	TER	553	602421.0014	CYSTIC FIBROSIS
chr7	117015101	117015102	CFTR	ARG	GLN	553	602421.0121	CYSTIC FIBROSIS
chr7	117015104	117015105	CFTR	ALA	GLU	554	602421.0069	CYSTIC FIBROSIS
chr7	117015109	117015110	CFTR	ILE	VAL	556	602421.0090	CYSTIC FIBROSIS
chr7	117015118	117015119	CFTR	ALA	THR	559	602421.0015	CYSTIC FIBROSIS
chr7	117015122	117015123	CFTR	ARG	THR	560	602421.0016	CYSTIC FIBROSIS
chr7	117015122	117015123	CFTR	ARG	LYS	560	602421.0052	CYSTIC FIBROSIS
chr7	117017644	117017645	CFTR	ALA	GLU	561	602421.0136	CYSTIC FIBROSIS
chr7	117017649	117017650	CFTR	TYR	ASN	563	602421.0017	CYSTIC FIBROSIS
chr7	117017683	117017684	CFTR	PRO	HIS	574	602421.0018	CYSTIC FIBROSIS
chr7	117017689	117017690	CFTR	GLY	ALA	576	602421.0061	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
chr7	117019399	117019400	CFTR	ASP	VAL	648	602421.0097	CYSTIC FIBROSIS
chr7	117019584	117019585	CFTR	LYS	TER	710	602421.0098	CYSTIC FIBROSIS
chr7	117019602	117019603	CFTR	LYS	TER	716	602421.0070	CYSTIC FIBROSIS
chr7	117019935	117019936	CFTR	GLU	TER	827	602421.0053	CYSTIC FIBROSIS
chr7	117022264	117022267	CFTR	TRP	TER	846	602421.0026	CYSTIC FIBROSIS
chr7	117022279	117022280	CFTR	ARG	TER	851	602421.0036	CYSTIC FIBROSIS
chr7	117030831	117030832	CFTR	GLN	TER	890	602421.0099	CYSTIC FIBROSIS
chr7	117030898	117030899	CFTR	SER	LEU	912	602421.0100	CFTR POLYMORPHISM
chr7	117030898	117030899	CFTR	SER	LEU	912	602421.0135	CYSTIC FIBROSIS
chr7	117030901	117030902	CFTR	TYR	CYS	913	602421.0027	CYSTIC FIBROSIS
chr7	117031008	117031009	CFTR	HIS	TYR	949	602421.0102	CYSTIC FIBROSIS
chr7	117037810	117037811	CFTR	LEU	PHE	997	602421.0124	PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO, INCLUDED
chr7	117038924	117038925	CFTR	LEU	PRO	1065	602421.0103	CYSTIC FIBROSIS
chr7	117038926	117038927	CFTR	ARG	CYS	1066	602421.0058	CYSTIC FIBROSIS
chr7	117038927	117038928	CFTR	ARG	HIS	1066	602421.0054	CYSTIC FIBROSIS
chr7	117038929	117038930	CFTR	ALA	THR	1067	602421.0055	CYSTIC FIBROSIS
chr7	117038942	117038943	CFTR	GLN	PRO	1071	602421.0104	CYSTIC FIBROSIS
chr7	117038984	117038985	CFTR	HIS	ARG	1085	602421.0105	CYSTIC FIBROSIS
chr7	117038995	117038998	CFTR	TRP	TER	1089	602421.0088	CYSTIC FIBROSIS
chr7	117039006	117039007	CFTR	TYR	TER	1092	602421.0106	CYSTIC FIBROSIS
chr7	117054814	117054815	CFTR	ARG	TER	1158	602421.0039	CYSTIC FIBROSIS
chr7	117054826	117054827	CFTR	ARG	TER	1162	602421.0033	CYSTIC FIBROSIS
chr7	117054952	117054955	CFTR	TRP	TER	1204	602421.0107	CYSTIC FIBROSIS
chr7	117055001	117055002	CFTR	THR	ILE	1220	602421.0109	CYSTIC FIBROSIS
chr7	117055042	117055043	CFTR	ILE	VAL	1234	602421.0110	CYSTIC FIBROSIS
chr7	117055054	117055055	CFTR	GLN	TER	1238	602421.0072	CYSTIC FIBROSIS
chr7	117069740	117069741	CFTR	GLY	VAL	1244	602421.0135	CYSTIC FIBROSIS
chr7	117069755	117069756	CFTR	GLY	GLU	1249	602421.0111	CYSTIC FIBROSIS
chr7	117069761	117069762	CFTR	SER	ASN	1251	602421.0112	CYSTIC FIBROSIS
chr7	117069772	117069773	CFTR	SER	PRO	1255	602421.0113	CYSTIC FIBROSIS
chr7	117069773	117069774	CFTR	SER	TER	1255	602421.0021	CYSTIC FIBROSIS
chr7	117069817	117069818	CFTR	ASP	ASN	1270	602421.0060	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
chr7	117069853	117069856	CFTR	TRP	TER	1282	602421.0022	CYSTIC FIBROSIS
chr7	117069857	117069858	CFTR	ARG	MET	1283	602421.0063	CYSTIC FIBROSIS
chr7	117069866	117069867	CFTR	PHE	SER	1286	602421.0080	CYSTIC FIBROSIS
chr7	117069882	117069883	CFTR	GLN	HIS	1291	602421.0048	CYSTIC FIBROSIS
chr7	117080164	117080165	CFTR	ASN	HIS	1303	602421.0114	CYSTIC FIBROSIS
chr7	117080166	117080167	CFTR	ASN	LYS	1303	602421.0032	CYSTIC FIBROSIS
chr7	117080194	117080195	CFTR	GLN	TER	1313	602421.0076	CYSTIC FIBROSIS
chr7	117080203	117080206	CFTR	TRP	TER	1316	602421.0029	CYSTIC FIBROSIS
chr7	117092069	117092070	CFTR	GLN	HIS	1352	602421.0133	CYSTIC FIBROSIS
chr7	117094318	117094319	CFTR	SER	TER	1455	602421.0119	SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
chr7	127041786	127041787	PAX4	ARG	TRP	133	167413.0002	DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO
chr7	127041822	127041823	PAX4	ARG	TRP	121	167413.0001	DIABETES MELLITUS, TYPE 2
chr7	127042701	127042702	PAX4	ARG	TRP	37	167413.0003	DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO
chr7	127681860	127681861	LEP	ARG	TRP	105	164160.0002	OBESITY, MORBID, WITH HYPOGONADISM
chr7	127758184	127758185	RBM28	LEU	PRO	351	612074.0001	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME
chr7	127825720	127825721	IMPDH1	VAL	ILE	268	146690.0002	RETINITIS PIGMENTOSA 10
chr7	127825846	127825847	IMPDH1	ASP	ASN	226	146690.0001	RETINITIS PIGMENTOSA 10
chr7	127825846	127825847	IMPDH1	VAL	ILE	268	146690.0002	RETINITIS PIGMENTOSA 10
chr7	127825851	127825852	IMPDH1	ARG	PRO	224	146690.0003	RETINITIS PIGMENTOSA 10
chr7	127827409	127827410	IMPDH1	ASN	LYS	198	146690.0005	LEBER CONGENITAL AMAUROSIS 11
chr7	127828117	127828118	IMPDH1	ARG	TRP	105	146690.0004	LEBER CONGENITAL AMAUROSIS 11
chr7	128285762	128285765	FLNC	TRP	TER	2710	102565.0001	FILAMINOPATHY, AUTOSOMAL DOMINANT
chr7	137427107	137427108	AKR1D1	LEU	PHE	106	604741.0003	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
chr7	137441906	137441907	AKR1D1	PRO	LEU	198	604741.0001	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
chr7	138041973	138041974	ATP6V0A4	GLY	ARG	820	605239.0002	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
chr7	138044917	138044918	ATP6V0A4	ARG	GLN	807	605239.0010	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS
chr7	138068330	138068331	ATP6V0A4	MET	THR	580	605239.0005	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
chr7	138074825	138074826	ATP6V0A4	PRO	LEU	524	605239.0008	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
chr7	138074890	138074891	ATP6V0A4	TYR	TER	502	605239.0009	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS
chr7	139257500	139257501	TBXAS1	LEU	PRO	83	274180.0002	GHOSAL HEMATODIAPHYSEAL SYNDROME
chr7	139364015	139364016	TBXAS1	GLY	TRP	482	274180.0003	GHOSAL HEMATODIAPHYSEAL SYNDROME
chr7	139364015	139364016	TBXAS1	ARG	GLU	413	274180.0004	GHOSAL HEMATODIAPHYSEAL SYNDROME
chr7	139364034	139364035	TBXAS1	LEU	PRO	488	274180.0001	GHOSAL HEMATODIAPHYSEAL SYNDROME
chr7	140095633	140095634	BRAF	ASP	GLU	638	164757.0021	CARDIOFACIOCUTANEOUS SYNDROME
chr7	140099602	140099603	BRAF	LYS	GLU	601	164757.0005	COLORECTAL CANCER, SOMATIC THYROID CARCINOMA, FOLLICULAR, SOMATIC, INCLUDED
chr7	140099604	140099605	BRAF	VAL	GLU	600	164757.0001	 ASTROCYTOMA, LOW-GRADE, SOMATIC, INCLUDED
chr7	140099604	140099605	BRAF	VAL	GLU	600	164757.0001	MELANOMA, MALIGNANT, SOMATIC COLORECTAL CANCER, SOMATIC, INCLUDED
chr7	140099604	140099605	BRAF	VAL	GLU	600	164757.0001	 THYROID CARCINOMA, PAPILLARY, SOMATIC, INCLUDED
chr7	140099613	140099614	BRAF	LEU	ARG	597	164757.0007	ADENOCARCINOMA OF LUNG, SOMATIC
chr7	140099614	140099615	BRAF	LEU	VAL	597	164757.0008	NONSMALL CELL LUNG CANCER, SOMATIC
chr7	140099622	140099623	BRAF	ASP	GLY	594	164757.0011	LYMPHOMA, NON-HODGKIN
chr7	140100455	140100456	BRAF	ASN	ASP	581	164757.0019	CARDIOFACIOCUTANEOUS SYNDROME
chr7	140123274	140123275	BRAF	GLY	ARG	534	164757.0020	CARDIOFACIOCUTANEOUS SYNDROME
chr7	140124274	140124275	BRAF	GLU	GLY	501	164757.0018	CARDIOFACIOCUTANEOUS SYNDROME
chr7	140124275	140124276	BRAF	GLU	LYS	501	164757.0017	CARDIOFACIOCUTANEOUS SYNDROME
chr7	140124281	140124282	BRAF	LYS	GLU	499	164757.0016	CARDIOFACIOCUTANEOUS SYNDROME
chr7	140124321	140124322	BRAF	LEU	PHE	485	164757.0015	CARDIOFACIOCUTANEOUS SYNDROME
chr7	140127870	140127871	BRAF	GLY	ALA	469	164757.0010	LYMPHOMA, NON-HODGKIN
chr7	140127870	140127871	BRAF	GLY	GLU	469	164757.0014	CARDIOFACIOCUTANEOUS SYNDROME
chr7	140127871	140127872	BRAF	GLY	ARG	469	164757.0009	LYMPHOMA, NON-HODGKIN
chr7	140127879	140127880	BRAF	GLY	VAL	466	164757.0006	ADENOCARCINOMA OF LUNG, SOMATIC
chr7	140127885	140127886	BRAF	GLY	GLU	464	164757.0004	COLORECTAL CANCER, SOMATIC
chr7	140127888	140127889	BRAF	ILE	SER	463	164757.0003	COLORECTAL CANCER, SOMATIC
chr7	140127891	140127892	BRAF	ARG	ILE	462	164757.0002	COLON CANCER, SOMATIC
chr7	140147770	140147771	BRAF	GLN	ARG	257	164757.0013	CARDIOFACIOCUTANEOUS SYNDROME
chr7	140147804	140147805	BRAF	ALA	PRO	246	164757.0012	CARDIOFACIOCUTANEOUS SYNDROME
chr7	141319072	141319073	TAS2R38	ILE	VAL	296	607751.0003	PHENYLTHIOCARBAMIDE TASTING
chr7	141319813	141319814	TAS2R38	ALA	PRO	49	607751.0001	PHENYLTHIOCARBAMIDE TASTING
chr7	142138006	142138007	PRSS1	LYS	ARG	23	276000.0003	PANCREATITIS, HEREDITARY
chr7	142138024	142138025	PRSS1	ASN	ILE	29	276000.0002	PANCREATITIS, HEREDITARY
chr7	142138099	142138100	PRSS1	ASN	SER	54	276000.0007	PANCREATITIS, HEREDITARY
chr7	142139232	142139233	PRSS1	GLU	LYS	79	276000.0006	PANCREATITIS, HEREDITARY
chr7	142139358	142139359	PRSS1	ALA	THR	121	276000.0011	PANCREATITIS, HEREDITARY
chr7	142139361	142139362	PRSS1	ARG	CYS	122	276000.0009	PANCREATITIS, HEREDITARY
chr7	142139362	142139363	PRSS1	ARG	HIS	122	276000.0001	PANCREATITIS, HEREDITARY
chr7	142139362	142139363	PRSS1	ARG	HIS	122	276000.0008	PANCREATITIS, HEREDITARY
chr7	142181837	142181838	PRSS2	GLY	ARG	191	601564.0001	PANCREATITIS, CHRONIC, PROTECTION AGAINST
chr7	142365129	142365130	KEL	THR	MET	193	110900.0001	KELL K/k BLOOD GROUP POLYMORPHISM
chr7	142727958	142727959	CLCN1	MET	VAL	128	118425.0016	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
chr7	142727958	142727959	CLCN1	ARG	TER	300	118425.0017	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
chr7	142728932	142728933	CLCN1	SER	PHE	189	118425.0018	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
chr7	142729055	142729056	CLCN1	GLY	GLU	230	118425.0002	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
chr7	142738002	142738003	CLCN1	ILE	MET	290	118425.0008	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
chr7	142738003	142738004	CLCN1	GLU	LYS	291	118425.0010	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
chr7	142738082	142738083	CLCN1	ARG	GLN	317	118425.0011	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE MYOTONIA CONGENITA, AUTOSOMAL DOMINANT, INCLUDED
chr7	142739704	142739705	CLCN1	PHE	CYS	413	118425.0001	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
chr7	142739983	142739984	CLCN1	TRP	ARG	433	118425.0019	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE, INCLUDED
chr7	142746504	142746505	CLCN1	PRO	LEU	480	118425.0006	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
chr7	142746509	142746510	CLCN1	GLY	ARG	482	118425.0005	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
chr7	142746741	142746742	CLCN1	ARG	SER	496	118425.0004	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
chr7	142746748	142746749	CLCN1	GLY	ARG	499	118425.0012	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
chr7	142749215	142749216	CLCN1	GLN	ARG	552	118425.0007	MYOTONIA LEVIOR
chr7	142758892	142758893	CLCN1	ARG	TER	894	118425.0015	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE MYOTONIA CONGENITA, AUTOSOMAL DOMINANT, INCLUDED
chr7	142759007	142759008	CLCN1	PRO	LEU	932	118425.0014	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
chr7	147475566	147475567	CNTNAP2	ILE	THR	869	604569.0004	AUTISM, SUSCEPTIBILITY TO, 15
chr7	150275499	150275502	KCNH2	TRP	TER	1001	152427.0012	LONG QT SYNDROME 2
chr7	150275749	150275750	KCNH2	ARG	CYS	948	152427.0022	LONG QT SYNDROME 1/2, DIGENIC
chr7	150276886	150276887	KCNH2	ASN	ILE	861	152427.0021	LONG QT SYNDROME 2 LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
chr7	150277004	150277005	KCNH2	VAL	MET	822	152427.0005	LONG QT SYNDROME 2
chr7	150277015	150277016	KCNH2	SER	LEU	818	152427.0013	LONG QT SYNDROME 2
chr7	150277040	150277041	KCNH2	ASN	ASP	470	152427.0002	LONG QT SYNDROME 2
chr7	150278236	150278237	KCNH2	ARG	TRP	784	152427.0014	LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
chr7	150278331	150278332	KCNH2	ARG	GLN	752	152427.0016	LONG QT SYNDROME 2
chr7	150279531	150279532	KCNH2	GLY	SER	628	152427.0008	LONG QT SYNDROME 2
chr7	150279635	150279636	KCNH2	ILE	ARG	593	152427.0004	LONG QT SYNDROME 2
chr7	150279649	150279650	KCNH2	ASN	LYS	588	152427.0017	SHORT QT SYNDROME 1
chr7	150279649	150279650	KCNH2	ASN	LYS	588	152427.0018	SHORT QT SYNDROME 1
chr7	150279669	150279670	KCNH2	ARG	CYS	582	152427.0009	LONG QT SYNDROME 2
chr7	150279699	150279700	KCNH2	GLY	ARG	572	152427.0010	LONG QT SYNDROME 2
chr7	150279731	150279732	KCNH2	ALA	VAL	561	152427.0001	LONG QT SYNDROME 2
chr7	150279741	150279742	KCNH2	ALA	PRO	558	152427.0025	LONG QT SYNDROME 2
chr7	150280534	150280535	KCNH2	ALA	THR	490	152427.0011	LONG QT SYNDROME, BRADYCARDIA-INDUCED
chr7	150280594	150280595	KCNH2	ASN	ASP	470	152427.0002	LONG QT SYNDROME 2
chr7	150302740	150302741	KCNH2	ARG	GLY	100	152427.0023	LONG QT SYNDROME 2/3, DIGENIC
chr7	150302845	150302846	KCNH2	THR	PRO	65	152427.0015	LONG QT SYNDROME 2
chr7	150888628	150888629	PRKAG2	ARG	GLN	531	602743.0007	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
chr7	150888629	150888630	PRKAG2	ARG	GLY	531	602743.0006	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET
chr7	150892217	150892218	PRKAG2	ASN	ILE	488	602743.0005	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME
chr7	150896768	150896769	PRKAG2	THR	ASN	400	602743.0004	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME
chr7	150896819	150896820	PRKAG2	HIS	ARG	142	602743.0002	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME
chr7	150904430	150904431	PRKAG2	ARG	GLN	302	602743.0001	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME WOLFF-PARKINSON-WHITE SYNDROME, INCLUDED
chr7	155288473	155288474	SHH	PRO	ALA	424	600725.0012	HOLOPROSENCEPHALY 3
chr7	155288748	155288749	SHH	VAL	ALA	332	600725.0018	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
chr7	155288874	155288875	SHH	GLY	ASP	290	600725.0011	HOLOPROSENCEPHALY 3
chr7	155288893	155288894	SHH	GLU	TER	284	600725.0009	HOLOPROSENCEPHALY 3
chr7	155288977	155288978	SHH	GLU	TER	256	600725.0017	HOLOPROSENCEPHALY 3
chr7	155289067	155289068	SHH	ALA	THR	226	600725.0007	HOLOPROSENCEPHALY 3
chr7	155289072	155289073	SHH	VAL	GLU	224	600725.0006	HOLOPROSENCEPHALY 3
chr7	155291930	155291933	SHH	TRP	TER	128	600725.0019	HOLOPROSENCEPHALY 3 SINGLE CENTRAL MAXILLARY INCISOR, INCLUDED
chr7	155291963	155291964	SHH	TRP	GLY	117	600725.0004	HOLOPROSENCEPHALY 3
chr7	155291963	155291964	SHH	TRP	ARG	117	600725.0005	HOLOPROSENCEPHALY 3
chr7	155291981	155291982	SHH	ILE	PHE	111	600725.0014	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
chr7	155291999	155292000	SHH	LYS	TER	105	600725.0003	HOLOPROSENCEPHALY 3
chr7	155297279	155297280	SHH	GLN	TER	100	600725.0002	HOLOPROSENCEPHALY 3
chr7	155297314	155297315	SHH	ASP	VAL	88	600725.0015	HOLOPROSENCEPHALY 3
chr7	155297486	155297487	SHH	GLY	ARG	31	600725.0001	HOLOPROSENCEPHALY 3
chr7	156495307	156495308	MNX1	TYR	TER	166	142994.0004	CURRARINO SYNDROME
chr8	1706696	1706697	CLN8	ARG	GLY	24	607837.0001	CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
chr8	1706714	1706715	CLN8	ALA	PRO	30	607837.0005	CEROID LIPOFUSCINOSIS, NEURONAL, 8
chr8	1715888	1715889	CLN8	ARG	CYS	204	607837.0003	CEROID LIPOFUSCINOSIS, NEURONAL, 8
chr8	1716067	1716068	CLN8	TRP	CYS	263	607837.0002	CEROID LIPOFUSCINOSIS, NEURONAL, 8
chr8	6254258	6254259	MCPH1	SER	TER	25	607117.0001	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
chr8	11603384	11603385	GATA4	SER	PHE	52	600576.0003	ATRIAL SEPTAL DEFECT 2
chr8	11645130	11645131	GATA4	GLY	SER	296	600576.0001	ATRIAL SEPTAL DEFECT 2
chr8	11649999	11650000	GATA4	GLN	GLU	316	600576.0004	ATRIAL SEPTAL DEFECT 2
chr8	11653336	11653337	GATA4	ASP	ASN	425	600576.0005	ATRIAL SEPTAL DEFECT 2 TETRALOGY OF FALLOT, INCLUDED
chr8	13001341	13001342	DLC1	THR	ALA	522	604258.0001	COLORECTAL CANCER, SOMATIC
chr8	16056964	16056965	MSR1	ARG	TER	293	153622.0001	PROSTATE CANCER
chr8	16070447	16070448	MSR1	ASP	TYR	174	153622.0002	PROSTATE CANCER
chr8	18124280	18124281	NAT1	VAL	ILE	149	108345.0002	NAT1*17 ALLELE
chr8	18302133	18302134	NAT2	ILE	THR	114	612182.0002	ACETYLATION, SLOW
chr8	18302382	18302383	NAT2	ARG	GLN	197	612182.0001	ACETYLATION, SLOW
chr8	18302649	18302650	NAT2	GLY	GLU	286	612182.0004	ACETYLATION, SLOW
chr8	19855980	19855981	LPL	ASP	GLU	204	609708.0018	LIPOPROTEIN LIPASE DEFICIENCY
chr8	20155366	20155367	LZTS1	LYS	GLU	119	606551.0002	ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
chr8	20156887	20156888	LZTS1	SER	PRO	29	606551.0001	ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
chr8	22029201	22029202	HR	GLN	TER	1176	602302.0011	ATRICHIA WITH PAPULAR LESIONS
chr8	22029857	22029858	HR	VAL	ASP	1136	602302.0002	ALOPECIA UNIVERSALIS CONGENITA
chr8	22032654	22032655	HR	THR	ALA	1022	602302.0001	ALOPECIA UNIVERSALIS CONGENITA
chr8	22032684	22032685	HR	ASP	ASN	1012	602302.0012	ALOPECIA UNIVERSALIS CONGENITA
chr8	22037184	22037185	HR	ARG	TER	613	602302.0007	ATRICHIA WITH PAPULAR LESIONS
chr8	22076184	22076185	SFTPC	GLU	LYS	66	178620.0007	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
chr8	22076553	22076554	SFTPC	ILE	THR	73	178620.0002	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
chr8	22076915	22076916	SFTPC	ALA	ASP	116	178620.0006	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
chr8	22077404	22077405	SFTPC	ARG	GLN	167	178620.0003	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
chr8	22077467	22077468	SFTPC	LEU	GLN	188	178620.0004	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
chr8	22077485	22077486	SFTPC	LEU	PRO	194	178620.0008	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
chr8	24869528	24869529	NEFL	GLU	TER	140	162280.0007	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F
chr8	24869665	24869666	NEFL	LEU	PRO	94	162280.0006	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
chr8	24869882	24869883	NEFL	PRO	SER	22	162280.0002	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
chr8	24869923	24869924	NEFL	PRO	ARG	8	162280.0003	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, INCLUDED
chr8	27377040	27377041	CHRNA2	ILE	ASN	279	118502.0001	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4
chr8	27429781	27429782	EPHX2	ARG	GLN	287	132811.0001	HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF
chr8	27690248	27690249	ESCO2	ARG	TER	169	609353.0002	ROBERTS SYNDROME
chr8	27690347	27690348	ESCO2	GLN	TER	202	609353.0006	SC PHOCOMELIA SYNDROME
chr8	27705401	27705404	ESCO2	TRP	TER	423	609353.0005	SC PHOCOMELIA SYNDROME
chr8	27713093	27713094	ESCO2	TRP	GLY	539	609353.0001	ROBERTS SYNDROME
chr8	37942954	37942955	ADRB3	TRP	ARG	64	109691.0001	OBESITY, SUSCEPTIBILITY TO
chr8	38121033	38121034	STAR	GLN	TER	258	600617.0002	LIPOID CONGENITAL ADRENAL HYPERPLASIA
chr8	38121057	38121060	STAR	TRP	TER	250	600617.0006	LIPOID CONGENITAL ADRENAL HYPERPLASIA
chr8	38122637	38122638	STAR	ARG	THR	217	600617.0007	LIPOID CONGENITAL ADRENAL HYPERPLASIA
chr8	38122725	38122726	STAR	ARG	CYS	188	600617.0012	LIPOID CONGENITAL ADRENAL HYPERPLASIA
chr8	38122728	38122729	STAR	VAL	MET	187	600617.0011	LIPOID CONGENITAL ADRENAL HYPERPLASIA
chr8	38122742	38122743	STAR	ARG	LEU	182	600617.0003	LIPOID CONGENITAL ADRENAL HYPERPLASIA
chr8	38122742	38122743	STAR	ARG	HIS	182	600617.0010	LIPOID CONGENITAL ADRENAL HYPERPLASIA
chr8	38390340	38390341	FGFR1	PRO	SER	722	136350.0022	KALLMANN SYNDROME 2
chr8	38390469	38390470	FGFR1	ASP	TYR	768	136350.0024	HYPOGONADOTROPIC HYPOGONADISM
chr8	38390592	38390593	FGFR1	GLN	HIS	764	136350.0023	HYPOGONADOTROPIC HYPOGONADISM
chr8	38390840	38390841	FGFR1	ASN	LYS	724	136350.0014	HYPOGONADOTROPIC HYPOGONADISM
chr8	38390847	38390848	FGFR1	PRO	HIS	722	136350.0014	HYPOGONADOTROPIC HYPOGONADISM
chr8	38390848	38390849	FGFR1	PRO	SER	722	136350.0022	KALLMANN SYNDROME 2
chr8	38391243	38391244	FGFR1	GLN	TER	680	136350.0015	HYPOGONADOTROPIC HYPOGONADISM
chr8	38391285	38391286	FGFR1	TRP	ARG	666	136350.0003	KALLMANN SYNDROME 2 WITH CLEFT PALATE
chr8	38391566	38391567	FGFR1	ARG	TER	622	136350.0004	KALLMANN SYNDROME 2 WITH CLEFT LIP OR PALATE HYPOGONADOTROPIC HYPOGONADISM, INCLUDED
chr8	38392573	38392574	FGFR1	ARG	TER	609	136350.0018	KALLMANN SYNDROME 2 WITH CLEFT LIP OR PALATE
chr8	38392579	38392580	FGFR1	VAL	MET	607	136350.0005	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA
chr8	38394923	38394924	FGFR1	ARG	LEU	470	136350.0016	HYPOGONADOTROPIC HYPOGONADISM
chr8	38394944	38394945	FGFR1	TYR	CYS	372	136350.0008	OSTEOGLOPHONIC DYSPLASIA
chr8	38394968	38394969	FGFR1	PRO	LEU	366	136350.0021	KALLMANN SYNDROME 2
chr8	38396350	38396351	FGFR1	CYS	ARG	379	136350.0010	OSTEOGLOPHONIC DYSPLASIA
chr8	38396350	38396351	FGFR1	CYS	ARG	381	136350.0012	OSTEOGLOPHONIC DYSPLASIA
chr8	38396370	38396371	FGFR1	TYR	CYS	372	136350.0008	OSTEOGLOPHONIC DYSPLASIA
chr8	38396394	38396395	FGFR1	PRO	LEU	366	136350.0021	KALLMANN SYNDROME 2
chr8	38398527	38398528	FGFR1	LEU	SER	342	136350.0017	KALLMANN SYNDROME 2
chr8	38398563	38398564	FGFR1	ASN	ILE	330	136350.0009	OSTEOGLOPHONIC DYSPLASIA
chr8	38401091	38401092	FGFR1	PRO	ARG	252	136350.0001	PFEIFFER SYNDROME JACKSON-WEISS SYNDROME, INCLUDED
chr8	38401220	38401221	FGFR1	ILE	THR	300	136350.0011	TRIGONOCEPHALY
chr8	38401364	38401365	FGFR1	PRO	ARG	252	136350.0001	PFEIFFER SYNDROME JACKSON-WEISS SYNDROME, INCLUDED
chr8	38401370	38401371	FGFR1	ARG	GLN	250	136350.0025	HYPOGONADOTROPIC HYPOGONADISM
chr8	38402832	38402833	FGFR1	GLY	SER	237	136350.0013	HYPOGONADOTROPIC HYPOGONADISM KALLMANN SYNDROME 2, INCLUDED
chr8	38404717	38404718	FGFR1	ALA	SER	167	136350.0007	KALLMANN SYNDROME 2
chr8	38406572	38406573	FGFR1	GLY	SER	48	136350.0020	KALLMANN SYNDROME 2
chr8	38999852	38999853	ADAM9	ARG	TER	256	602713.0002	CONE-ROD DYSTROPHY 9
chr8	41638597	41638598	ANK1	ARG	TER	1833	612641.0004	SPHEROCYTOSIS, TYPE 1, DUE TO ANKYRIN SAINT-ETIENNE 2
chr8	41645174	41645177	ANK1	TRP	TER	1721	612641.0003	SPHEROCYTOSIS, TYPE 1, DUE TO ANKYRIN SAINT-ETIENNE 1
chr8	41649119	41649120	ANK1	GLU	TER	1669	612641.0001	SPHEROCYTOSIS, TYPE 1, DUE TO ANKYRIN-RAKOVNIK
chr8	42813511	42813514	THAP1	PHE	LEU	81	609520.0002	DYSTONIA 6, TORSION
chr8	43156461	43156462	HGSNAT	ARG	CYS	344	610453.0008	MUCOPOLYSACCHARIDOSIS TYPE IIIC
chr8	43171981	43171982	HGSNAT	SER	PHE	518	610453.0009	MUCOPOLYSACCHARIDOSIS TYPE IIIC
chr8	55700112	55700113	RP1	THR	ILE	373	603937.0006	RETINITIS PIGMENTOSA 1
chr8	55701023	55701024	RP1	ARG	TER	677	603937.0001	RETINITIS PIGMENTOSA 1
chr8	55701029	55701030	RP1	GLN	TER	679	603937.0004	RETINITIS PIGMENTOSA 1
chr8	55701947	55701948	RP1	ASN	TYR	985	603937.0005	HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
chr8	61341156	61341157	CA8	SER	PRO	100	114815.0001	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3
chr8	61816708	61816709	CHD7	HIS	ARG	55	608892.0015	KALLMANN SYNDROME 5
chr8	61891501	61891502	CHD7	SER	PHE	834	608892.0012	CHARGE SYNDROME HYPOGONADOTROPIC HYPOGONADISM, INCLUDED
chr8	61897739	61897740	CHD7	ILE	VAL	1028	608892.0001	CHARGE SYNDROME
chr8	61905681	61905682	CHD7	LEU	ARG	1257	608892.0002	CHARGE SYNDROME
chr8	61911217	61911218	CHD7	GLU	TER	1271	608892.0007	CHARGE SYNDROME
chr8	61925618	61925619	CHD7	TYR	TER	1806	608892.0003	CHARGE SYNDROME
chr8	61928159	61928160	CHD7	GLY	ARG	2108	608892.0011	CHARGE SYNDROME
chr8	61931105	61931106	CHD7	ARG	SER	2319	608892.0006	CHARGE SYNDROME
chr8	61931144	61931147	CHD7	TRP	TER	2332	608892.0005	CHARGE SYNDROME
chr8	64139406	64139407	TTPA	ARG	HIS	192	600415.0005	ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
chr8	64141168	64141169	TTPA	ARG	TER	134	600415.0006	ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
chr8	64148102	64148103	TTPA	HIS	GLN	101	600415.0002	ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
chr8	65672023	65672024	CYP7B1	ARG	HIS	417	603711.0004	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
chr8	65679863	65679864	CYP7B1	ARG	TER	388	603711.0001	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, INCLUDED
chr8	65679937	65679938	CYP7B1	SER	PHE	363	603711.0002	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
chr8	65690826	65690827	CYP7B1	TYR	TER	275	603711.0006	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
chr8	65691004	65691005	CYP7B1	PHE	SER	216	603711.0005	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
chr8	65699603	65699604	CYP7B1	GLY	ARG	57	603711.0007	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
chr8	72286003	72286004	EYA1	ARG	GLY	514	601653.0008	ANTERIOR SEGMENT ANOMALIES AND CATARACT
chr8	72290258	72290259	EYA1	LEU	ARG	472	601653.0013	BRANCHIOOTORENAL SYNDROME 1
chr8	72290418	72290419	EYA1	SER	PRO	454	601653.0012	BRANCHIOOTORENAL SYNDROME 1
chr8	72291521	72291522	EYA1	ARG	GLN	407	601653.0007	BRANCHIOOTORENAL SYNDROME 1
chr8	72291564	72291565	EYA1	GLY	SER	393	601653.0010	BRANCHIOOTORENAL SYNDROME WITH CATARACT
chr8	72319444	72319445	EYA1	GLU	LYS	330	601653.0009	ANTERIOR SEGMENT ANOMALIES
chr8	72319450	72319451	EYA1	ARG	TER	328	601653.0015	BRANCHIOOTIC SYNDROME 1 BRANCHIOOTORENAL SYNDROME 1, INCLUDED
chr8	72346590	72346591	EYA1	ARG	TER	275	601653.0001	BRANCHIOOTORENAL SYNDROME 1
chr8	75425341	75425344	GDAP1	TRP	TER	31	606598.0001	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A
chr8	75434973	75434974	GDAP1	ARG	TRP	120	606598.0009	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K
chr8	75435084	75435085	GDAP1	THR	PRO	157	606598.0010	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K
chr8	75435097	75435098	GDAP1	ARG	HIS	161	606598.0003	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A
chr8	75436675	75436676	GDAP1	GLN	TER	163	606598.0004	NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
chr8	75437729	75437730	GDAP1	SER	TER	194	606598.0002	 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K, INCLUDED
chr8	75437729	75437730	GDAP1	SER	TER	194	606598.0002	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE, INCLUDED
chr8	75437800	75437801	GDAP1	GLN	GLU	218	606598.0012	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K
chr8	75437840	75437841	GDAP1	PRO	LEU	231	606598.0013	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K
chr8	75438794	75438795	GDAP1	LEU	PHE	239	606598.0011	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
chr8	75438798	75438799	GDAP1	CYS	TYR	240	606598.0014	CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K
chr8	75438923	75438924	GDAP1	ARG	CYS	282	606598.0006	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
chr8	86564837	86564838	CA2	TYR	TER	40	611492.0007	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
chr8	86573259	86573260	CA2	HIS	TYR	107	611492.0004	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
chr8	86580240	86580241	CA2	ASN	ASP	252	611492.0001	CARBONIC ANHYDRASE II VARIANT
chr8	87710337	87710338	CNGB3	TYR	ASP	469	605080.0006	STARGARDT DISEASE 1
chr8	87714111	87714112	CNGB3	SER	PHE	435	605080.0001	ACHROMATOPSIA 3
chr8	87749398	87749399	CNGB3	ARG	TER	203	605080.0004	ACHROMATOPSIA 3
chr8	91040163	91040164	NBN	TYR	TER	363	602667.0008	NIJMEGEN BREAKAGE SYNDROME
chr8	91045831	91045832	NBN	GLN	TER	326	602667.0006	NIJMEGEN BREAKAGE SYNDROME
chr8	91052635	91052636	NBN	ARG	TRP	215	602667.0009	NIJMEGEN BREAKAGE SYNDROME
chr8	91059696	91059697	NBN	ILE	VAL	171	602667.0007	APLASTIC ANEMIA LYMPHOBLASTIC LEUKEMIA, ACUTE, SUSCEPTIBILITY TO, INCLUDED
chr8	94847020	94847021	TMEM67	ARG	TER	208	609884.0011	MECKEL SYNDROME, TYPE 3
chr8	94862365	94862366	TMEM67	SER	CYS	320	609884.0012	BARDET-BIEDL SYNDROME 14, MODIFIER OF
chr8	94862365	94862366	HGSNAT	LEU	TER	349	610453.0004	MUCOPOLYSACCHARIDOSIS TYPE IIIC
chr8	94863859	94863860	TMEM67	GLN	PRO	376	609884.0004	MECKEL SYNDROME, TYPE 3
chr8	94872685	94872686	TMEM67	TYR	CYS	513	609884.0006	JOUBERT SYNDROME 6
chr8	94874659	94874660	TMEM67	GLY	GLU	545	609884.0010	JOUBERT SYNDROME 6
chr8	95003739	95003740	PDP1	GLU	TER	93	605993.0002	PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
chr8	95473043	95473044	RAD54B	ASN	SER	593	604289.0001	LYMPHOMA, NON-HODGKIN
chr8	95480943	95480944	RAD54B	ASP	TYR	418	604289.0002	COLON CANCER
chr8	96113496	96113497	C8ORF38	GLN	ARG	99	612392.0001	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
chr8	97226354	97226355	GDF6	PRO	HIS	327	601147.0006	MICROPHTHALMIA, ISOLATED 4
chr8	97226468	97226469	GDF6	LEU	PRO	289	601147.0002	KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
chr8	97226576	97226577	GDF6	GLN	LEU	253	601147.0005	MICROPHTHALMIA, ISOLATED 4
chr8	97226588	97226589	GDF6	ALA	GLU	249	601147.0001	KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT MICROPHTHALMIA, ISOLATED 4, INCLUDED
chr8	97241971	97241972	GDF6	GLY	VAL	42	601147.0004	SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL DOMINANT
chr8	103289613	103289614	RRM2B	ARG	TER	327	604712.0006	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 5
chr8	103294232	103294233	RRM2B	GLN	TER	284	604712.0001	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY
chr8	103295539	103295540	RRM2B	CYS	PHE	236	604712.0005	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY
chr8	103295560	103295561	RRM2B	GLY	VAL	229	604712.0007	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY
chr8	103300321	103300322	RRM2B	GLU	LYS	194	604712.0003	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY
chr8	103306381	103306382	RRM2B	ARG	HIS	121	604712.0009	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED
chr8	103306414	103306415	RRM2B	ARG	HIS	110	604712.0008	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED
chr8	105474327	105474328	DPYS	GLY	ARG	435	222748.0002	DIHYDROPYRIMIDINURIA
chr8	105509397	105509398	DPYS	TRP	ARG	360	222748.0003	DIHYDROPYRIMIDINURIA
chr8	105509474	105509475	DPYS	GLN	ARG	334	222748.0001	DIHYDROPYRIMIDINURIA
chr8	106500595	106500596	ZFPM2	GLU	GLY	30	603693.0002	TETRALOGY OF FALLOT
chr8	106642798	106642799	ZFPM2	ARG	TER	112	603693.0003	DIAPHRAGMATIC HERNIA 3
chr8	106883454	106883455	ZFPM2	SER	GLY	657	603693.0001	TETRALOGY OF FALLOT
chr8	106883592	106883593	ZFPM2	MET	LEU	703	603693.0004	DIAPHRAGMATIC HERNIA 3
chr8	106884012	106884013	ZFPM2	THR	ALA	843	603693.0005	DIAPHRAGMATIC HERNIA 3
chr8	110168965	110168966	TRHR	ARG	TER	17	188545.0002	THYROTROPIN-RELEASING HORMONE RESISTANCE, GENERALIZED
chr8	110168965	110168966	TRHR	ARG	TER	17	188545.0003	THYROTROPIN-RELEASING HORMONE RESISTANCE, GENERALIZED
chr8	110169268	110169269	TRHR	ALA	THR	118	188545.0001	THYROTROPIN-RELEASING HORMONE RESISTANCE, GENERALIZED
chr8	118253963	118253964	SLC30A8	ARG	TRP	325	611145.0001	DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO
chr8	118918564	118918565	EXT1	ARG	LEU	340	608177.0004	EXOSTOSES, MULTIPLE, TYPE I
chr8	118918565	118918566	EXT1	ARG	CYS	340	608177.0009	EXOSTOSES, MULTIPLE, TYPE I
chr8	118918567	118918568	EXT1	GLY	ASP	339	608177.0007	EXOSTOSES, MULTIPLE, TYPE I
chr8	119192109	119192110	EXT1	TYR	TER	119	608177.0008	EXOSTOSES, MULTIPLE, TYPE I
chr8	120014401	120014404	TNFRSF11B	PHE	LEU	117	602643.0004	PAGET DISEASE, JUVENILE
chr8	120014490	120014491	TNFRSF11B	CYS	TYR	87	602643.0003	PAGET DISEASE, JUVENILE
chr8	126138240	126138241	KIAA0196	VAL	PHE	626	610657.0001	SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
chr8	126138997	126138998	KIAA0196	LEU	PHE	619	610657.0002	SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
chr8	126142615	126142616	KIAA0196	ASN	ASP	471	610657.0003	SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
chr8	128819813	128819814	MYC	PRO	SER	57	190080.0001	BURKITT LYMPHOMA
chr8	133969433	133969434	TG	SER	ALA	734	188450.0009	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
chr8	133969843	133969844	TG	GLN	HIS	870	188450.0002	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
chr8	133988212	133988213	TG	CYS	ARG	1245	188450.0005	THYROID DYSHORMONOGENESIS 3
chr8	134049223	134049224	TG	CYS	TYR	1897	188450.0016	THYROID DYSHORMONOGENESIS 3
chr8	134103547	134103548	TG	ARG	GLN	2336	188450.0017	THYROID DYSHORMONOGENESIS 3
chr8	134339798	134339799	NDRG1	ARG	TER	148	605262.0001	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
chr8	140700101	140700102	KCNK9	GLY	ARG	236	605874.0001	BIRK-BAREL SYNDROME
chr8	141439411	141439412	TRAPPC9	ARG	TER	570	611966.0002	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
chr8	141476905	141476906	TRAPPC9	ARG	TER	475	611966.0001	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
chr8	143819578	143819579	SLURP1	CYS	TYR	99	606119.0009	MAL DE MELEDA
chr8	143819588	143819589	SLURP1	ARG	TER	96	606119.0003	MAL DE MELEDA
chr8	143819618	143819619	SLURP1	GLY	ARG	86	606119.0004	MAL DE MELEDA
chr8	143819618	143819619	SLURP1	GLY	ARG	86	606119.0005	MAL DE MELEDA
chr8	143820762	143820763	SLURP1	TRP	ARG	15	606119.0007	MAL DE MELEDA
chr8	143820762	143820763	SLURP1	CYS	ALA	77	606119.0008	MAL DE MELEDA
chr8	143820804	143820805	SLURP1	MET	LEU	1	606119.0006	MAL DE MELEDA
chr8	143953429	143953430	CYP11B1	ARG	HIS	448	610613.0001	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
chr8	143953503	143953504	CYP11B1	TYR	TER	423	610613.0015	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
chr8	143954129	143954130	CYP11B1	ARG	GLN	374	610613.0004	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
chr8	143954147	143954148	CYP11B1	ALA	ASP	368	610613.0017	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
chr8	143954294	143954295	CYP11B1	THR	MET	319	610613.0008	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
chr8	143954659	143954660	CYP11B1	THR	MET	318	610613.0003	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
chr8	143955638	143955639	CYP11B1	ASN	HIS	133	610613.0007	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
chr8	143957498	143957501	CYP11B1	TRP	TER	116	610613.0006	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
chr8	143957563	143957564	CYP11B1	PRO	LEU	94	610613.0016	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
chr8	143958107	143958108	CYP11B1	PRO	SER	42	610613.0009	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
chr8	143990417	143990418	CYP11B2	THR	ALA	498	124080.0012	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
chr8	143990963	143990964	CYP11B2	LEU	PRO	461	124080.0005	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
chr8	143991267	143991268	CYP11B2	VAL	ALA	386	124080.0001	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
chr8	143991267	143991268	CYP11B2	VAL	ALA	386	124080.0002	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
chr8	143993158	143993159	CYP11B2	GLU	TER	255	124080.0006	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
chr8	143993464	143993465	CYP11B2	GLU	ASP	198	124080.0002	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
chr8	143993504	143993505	CYP11B2	THR	ILE	185	124080.0007	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
chr8	143993517	143993518	CYP11B2	ARG	TRP	181	124080.0001	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
chr8	144881538	144881539	FAM83H	GLU	TER	694	611927.0009	AMELOGENESIS IMPERFECTA, TYPE III, LOCALIZED
chr8	144881589	144881590	FAM83H	GLN	TER	677	611927.0006	AMELOGENESIS IMPERFECTA, TYPE III
chr8	144882210	144882211	FAM83H	GLN	TER	470	611927.0007	AMELOGENESIS IMPERFECTA, TYPE III
chr8	144882240	144882243	FAM83H	TRP	TER	460	611927.0005	AMELOGENESIS IMPERFECTA, TYPE III
chr8	144882240	144882243	FAM83H	TRP	TER	460	611927.0012	AMELOGENESIS IMPERFECTA, TYPE III
chr8	144882375	144882376	FAM83H	GLU	TER	415	611927.0003	AMELOGENESIS IMPERFECTA, TYPE III
chr8	144882426	144882427	FAM83H	GLN	TER	398	611927.0002	AMELOGENESIS IMPERFECTA, TYPE III
chr8	144882645	144882646	FAM83H	ARG	TER	325	611927.0001	AMELOGENESIS IMPERFECTA, TYPE III
chr8	144882727	144882728	FAM83H	TYR	TER	297	611927.0004	AMELOGENESIS IMPERFECTA, TYPE III
chr8	144882758	144882759	FAM83H	SER	TER	287	611927.0008	AMELOGENESIS IMPERFECTA, TYPE III
chr8	145609479	145609480	SLC39A4	GLY	ARG	526	607059.0005	ACRODERMATITIS ENTEROPATHICA
chr8	145610482	145610483	SLC39A4	GLY	ARG	374	607059.0006	ACRODERMATITIS ENTEROPATHICA
chr8	145610613	145610614	SLC39A4	GLY	ASP	330	607059.0009	ACRODERMATITIS ENTEROPATHICA
chr8	145610983	145610984	SLC39A4	GLN	HIS	303	607059.0012	ACRODERMATITIS ENTEROPATHICA
chr8	145611486	145611487	SLC39A4	PRO	LEU	200	607059.0004	ACRODERMATITIS ENTEROPATHICA
chr8	145612157	145612158	SLC39A4	ASN	LYS	106	607059.0007	ACRODERMATITIS ENTEROPATHICA
chr8	145612157	145612158	SLC39A4	GLY	ASP	330	607059.0009	ACRODERMATITIS ENTEROPATHICA
chr8	145612192	145612193	SLC39A4	ARG	CYS	95	607059.0011	ACRODERMATITIS ENTEROPATHICA
chr8	145700534	145700535	GPT	HIS	ASP	14	138200.0001	GLUTAMIC-PYRUVATE TRANSAMINASE POLYMORPHISM
chr8	145709603	145709604	RECQL4	GLN	TER	757	603780.0002	ROTHMUND-THOMSON SYNDROME
chr8	145712505	145712508	RECQL4	TRP	TER	269	603780.0011	RAPADILINO SYNDROME
chr9	2633479	2633480	VLDLR	ARG	TER	257	192977.0002	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1
chr9	2635602	2635603	VLDLR	ARG	TER	448	192977.0004	CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE
chr9	2708165	2708166	KCNV2	GLU	TER	143	607604.0001	RETINAL CONE DYSTROPHY 3B
chr9	2708505	2708506	KCNV2	SER	TRP	256	607604.0005	RETINAL CONE DYSTROPHY 3B
chr9	2708654	2708655	KCNV2	GLU	TER	306	607604.0002	RETINAL CONE DYSTROPHY 3B
chr9	2719464	2719465	KCNV2	GLY	ASP	459	607604.0003	RETINAL CONE DYSTROPHY 3B
chr9	5063741	5063742	JAK2	LYS	ASN	607	147796.0002	LEUKEMIA, ACUTE MYELOGENOUS, SOMATIC
chr9	5063741	5063742	JAK2	LYS	LEU	539	147796.0003	MYELOPROLIFERATIVE DISORDER WITH ERYTHROCYTOSIS, INCLUDED
chr9	5063741	5063742	NR5A1	GLY	GLU	35	184757.0001	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE
chr9	5063769	5063770	JAK2	VAL	PHE	617	147796.0001	 BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC, INCLUDED
chr9	5063769	5063770	JAK2	VAL	PHE	617	147796.0001	 LEUKEMIA, ACUTE MYELOGENOUS, SOMATIC, INCLUDED
chr9	5063769	5063770	JAK2	VAL	PHE	617	147796.0001	 MYELOFIBROSIS, SOMATIC, INCLUDED
chr9	5063769	5063770	JAK2	VAL	PHE	617	147796.0001	POLYCYTHEMIA VERA, SOMATIC THROMBOCYTHEMIA, ESSENTIAL, SOMATIC, INCLUDED
chr9	5063769	5063770	JAK2	VAL	PHE	617	147796.0001	 PREGNANCY LOSS, SUSCEPTIBILITY TO, SOMATIC, INCLUDED
chr9	6543419	6543420	GLDC	ALA	VAL	802	238300.0006	GLYCINE ENCEPHALOPATHY
chr9	6544702	6544703	GLDC	GLY	ARG	761	238300.0005	GLYCINE ENCEPHALOPATHY
chr9	6544767	6544768	GLDC	ARG	HIS	739	238300.0009	GLYCINE ENCEPHALOPATHY
chr9	6578416	6578417	GLDC	SER	ILE	564	238300.0001	GLYCINE ENCEPHALOPATHY
chr9	6579229	6579230	GLDC	ARG	SER	515	238300.0004	GLYCINE ENCEPHALOPATHY
chr9	6585108	6585109	GLDC	ALA	VAL	389	238300.0008	GLYCINE ENCEPHALOPATHY
chr9	6635497	6635498	GLDC	MET	THR	1	238300.0007	GLYCINE ENCEPHALOPATHY
chr9	12685625	12685626	TYRP1	SER	TER	166	115501.0002	ALBINISM, OCULOCUTANEOUS, TYPE III ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF, INCLUDED
chr9	12685625	12685626	TYRP1	ARG	GLU	356	115501.0004	ALBINISM, OCULOCUTANEOUS, TYPE III
chr9	14774491	14774492	FREM1	GLY	SER	1440	608944.0003	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
chr9	14814926	14814927	FREM1	ARG	TRP	649	608944.0002	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
chr9	21960980	21960981	CDKN2A	VAL	ASP	126	600160.0013	MELANOMA, CUTANEOUS MALIGNANT, 2
chr9	21960993	21960994	CDKN2A	GLY	ARG	122	600160.0015	MELANOMA, CUTANEOUS MALIGNANT, 2
chr9	21961017	21961018	CDKN2A	PRO	SER	114	600160.0017	MELANOMA, CUTANEOUS MALIGNANT, 2
chr9	21961020	21961023	CDKN2A	LEU	LEU	113	600160.0017	MELANOMA, CUTANEOUS MALIGNANT, 2
chr9	21961056	21961057	CDKN2A	GLY	TRP	101	600160.0005	MELANOMA, CUTANEOUS MALIGNANT, 2 MELANOMA-PANCREATIC CANCER SYNDROME, INCLUDED
chr9	21961091	21961092	CDKN2A	GLY	ASP	89	600160.0019	MELANOMA, CUTANEOUS MALIGNANT, 2, SUSCEPTIBILITY TO
chr9	21961181	21961182	CDKN2A	VAL	GLY	59	600160.0016	MELANOMA, CUTANEOUS MALIGNANT, 2
chr9	21961190	21961191	CDKN2A	SER	ILE	56	600160.0018	MELANOMA, CUTANEOUS MALIGNANT, 2
chr9	21961198	21961199	CDKN2A	MET	ILE	53	600160.0007	MELANOMA, CUTANEOUS MALIGNANT, 2
chr9	21964755	21964756	CDKN2A	ARG	PRO	24	600160.0008	MELANOMA, CUTANEOUS MALIGNANT, 2
chr9	27196759	27196760	TEK	ARG	TRP	849	600221.0001	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
chr9	27202707	27202708	TEK	TYR	SER	897	600221.0002	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
chr9	32964494	32964497	APTX	TRP	TER	279	606350.0006	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA COENZYME Q10 DEFICIENCY, INCLUDED
chr9	32964541	32964542	APTX	VAL	GLY	89	606350.0004	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
chr9	32974730	32974731	APTX	LEU	PRO	223	606350.0009	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
chr9	32974781	32974782	APTX	PRO	LEU	32	606350.0002	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
chr9	32974796	32974797	APTX	HIS	ARG	27	606350.0005	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
chr9	34503162	34503163	DNAI1	GLY	SER	515	604366.0003	CILIARY DYSKINESIA, PRIMARY, 1
chr9	34637132	34637133	GALT	VAL	MET	44	606999.0003	GALACTOSEMIA
chr9	34637186	34637187	GALT	LEU	MET	62	606999.0004	GALT POLYMORPHISM
chr9	34637223	34637224	GALT	LEU	PRO	74	606999.0007	GALACTOSEMIA
chr9	34637854	34637855	GALT	SER	LEU	135	606999.0010	GALACTOSEMIA
chr9	34637875	34637876	GALT	MET	LYS	142	606999.0001	GALACTOSEMIA
chr9	34638115	34638116	GALT	PHE	SER	171	606999.0008	GALACTOSEMIA
chr9	34638150	34638151	GALT	PRO	THR	183	606999.0011	GALACTOSEMIA
chr9	34638166	34638167	GALT	GLN	ARG	188	606999.0006	GALACTOSEMIA
chr9	34638345	34638348	GALT	PHE	LEU	194	606999.0016	GALACTOSEMIA
chr9	34638372	34638373	GALT	GLU	LYS	203	606999.0014	GALACTOSEMIA
chr9	34638417	34638420	GALT	LEU	LEU	218	606999.0012	LOS ANGELES VARIANT
chr9	34639028	34639029	GALT	LYS	ASN	285	606999.0013	GALACTOSEMIA
chr9	34639441	34639442	GALT	ASN	ASP	314	606999.0005	DUARTE VARIANT
chr9	34639441	34639442	GALT	ASN	ASP	314	606999.0012	LOS ANGELES VARIANT
chr9	34639458	34639459	GALT	HIS	GLN	319	606999.0009	GALACTOSEMIA
chr9	34639498	34639499	GALT	ARG	TRP	333	606999.0002	GALACTOSEMIA
chr9	34639498	34639499	GALT	ARG	GLY	333	606999.0015	GALACTOSEMIA
chr9	35054163	35054164	VCP	ALA	GLU	232	601023.0003	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
chr9	35055251	35055252	VCP	ARG	GLN	191	601023.0006	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
chr9	35055347	35055348	VCP	ARG	HIS	159	601023.0007	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
chr9	35055359	35055360	VCP	ARG	HIS	155	601023.0001	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
chr9	35055359	35055360	VCP	ARG	PRO	155	601023.0005	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
chr9	35055360	35055361	VCP	ARG	CYS	155	601023.0002	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
chr9	35057906	35057907	VCP	ARG	GLY	95	601023.0004	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
chr9	35066438	35066439	FANCG	GLN	TER	356	602956.0004	FANCONI ANEMIA, COMPLEMENTATION GROUP G
chr9	35068334	35068335	FANCG	GLU	TER	105	602956.0001	FANCONI ANEMIA, COMPLEMENTATION GROUP G
chr9	35674761	35674762	TPM2	ASN	LYS	202	190990.0008	CAP MYOPATHY, TPM2-RELATED
chr9	35675482	35675483	TPM2	GLN	PRO	147	190990.0002	NEMALINE MYOPATHY 4
chr9	35675525	35675526	TPM2	ARG	TRP	133	190990.0004	ARTHROGRYPOSIS, DISTAL, TYPE 2B
chr9	35675668	35675669	TPM2	GLU	LYS	117	190990.0003	NEMALINE MYOPATHY 4
chr9	35675746	35675747	TPM2	ARG	GLY	91	190990.0001	ARTHROGRYPOSIS, DISTAL, TYPE 1
chr9	35679261	35679262	TPM2	GLU	LYS	41	190990.0005	NEMALINE MYOPATHY 4
chr9	35782498	35782499	NPR2	PRO	THR	32	108961.0001	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
chr9	35782747	35782748	NPR2	TRP	GLY	115	108961.0002	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
chr9	35782932	35782933	NPR2	ASP	GLU	176	108961.0003	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
chr9	35790423	35790424	NPR2	ARG	TER	388	108961.0004	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
chr9	36207395	36207396	GNE	MET	THR	712	603824.0005	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE NONAKA MYOPATHY, INCLUDED
chr9	36207444	36207445	GNE	VAL	MET	696	603824.0008	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
chr9	36207537	36207538	GNE	VAL	MET	696	603824.0008	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
chr9	36208220	36208221	GNE	ALA	VAL	631	603824.0015	NONAKA MYOPATHY
chr9	36208221	36208222	GNE	ALA	THR	631	603824.0007	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
chr9	36209851	36209852	GNE	ALA	VAL	631	603824.0015	NONAKA MYOPATHY
chr9	36209852	36209853	GNE	ALA	THR	631	603824.0007	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
chr9	36209923	36209924	GNE	GLY	GLU	576	603824.0006	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
chr9	36209936	36209937	GNE	VAL	LEU	572	603824.0013	NONAKA MYOPATHY
chr9	36209936	36209937	GNE	CYS	VAL	303	603824.0014	NONAKA MYOPATHY
chr9	36212772	36212773	GNE	GLY	GLU	576	603824.0006	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
chr9	36213401	36213402	GNE	ALA	VAL	460	603824.0012	NONAKA MYOPATHY
chr9	36223989	36223990	GNE	CYS	TER	303	603824.0009	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
chr9	36224101	36224102	GNE	ARG	GLN	266	603824.0002	SIALURIA
chr9	36224101	36224102	GNE	ARG	GLN	266	603824.0004	SIALURIA
chr9	36224102	36224103	GNE	ARG	TRP	266	603824.0001	SIALURIA
chr9	36224110	36224111	GNE	ARG	LEU	263	603824.0003	SIALURIA
chr9	36226860	36226861	GNE	ARG	GLN	246	603824.0010	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
chr9	36226924	36226925	GNE	ASP	ASN	225	603824.0011	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
chr9	36236132	36236133	GNE	MET	VAL	171	603824.0016	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
chr9	37416541	37416542	GRHPR	ARG	TER	99	604296.0002	HYPEROXALURIA, PRIMARY, TYPE II
chr9	70840520	70840521	FXN	MET	ILE	1	606829.0006	FRIEDREICH ATAXIA
chr9	70857928	70857929	FXN	LEU	TER	106	606829.0002	FRIEDREICH ATAXIA
chr9	70869677	70869678	FXN	GLY	VAL	130	606829.0005	FRIEDREICH ATAXIA
chr9	70869748	70869749	FXN	ILE	PHE	154	606829.0004	FRIEDREICH ATAXIA
chr9	70877381	70877382	FXN	TRP	GLY	173	606829.0007	FRIEDREICH ATAXIA
chr9	71021102	71021103	TJP2	VAL	ALA	48	607709.0001	HYPERCHOLANEMIA, FAMILIAL
chr9	74499313	74499314	TMC1	ARG	TER	34	606706.0002	DEAFNESS, AUTOSOMAL RECESSIVE 7
chr9	74597064	74597065	TMC1	CYS	ARG	515	606706.0006	DEAFNESS, AUTOSOMAL RECESSIVE 7
chr9	74620896	74620897	TMC1	ASP	ASN	572	606706.0001	DEAFNESS, AUTOSOMAL DOMINANT 36
chr9	74620896	74620897	TMC1	ASP	HIS	572	606706.0004	DEAFNESS, AUTOSOMAL DOMINANT 36
chr9	74625773	74625774	TMC1	MET	VAL	654	606706.0003	DEAFNESS, AUTOSOMAL RECESSIVE 7
chr9	76606873	76606874	TRPM6	SER	TER	590	607009.0001	HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
chr9	76644881	76644882	TRPM6	SER	LEU	141	607009.0011	HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
chr9	76647065	76647066	TRPM6	ARG	TER	56	607009.0008	HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
chr9	79010129	79010130	VPS13A	ILE	LYS	90	605978.0001	CHOREOACANTHOCYTOSIS
chr9	79017975	79017976	VPS13A	ARG	TER	208	605978.0004	CHOREOACANTHOCYTOSIS
chr9	80109577	80109578	PSAT1	ASP	ALA	100	610936.0002	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
chr9	91146090	91146091	SECISBP2	LYS	TER	438	607693.0002	THYROID HORMONE METABOLISM, ABNORMAL
chr9	91152829	91152830	SECISBP2	ARG	GLN	540	607693.0001	THYROID HORMONE METABOLISM, ABNORMAL
chr9	93100095	93100096	AUH	ARG	TER	197	600529.0001	3-@METHYLGLUTACONIC ACIDURIA, TYPE I
chr9	93526331	93526332	ROR2	TYR	TER	755	602337.0001	BRACHYDACTYLY, TYPE B1
chr9	93526351	93526354	ROR2	TRP	TER	749	602337.0002	BRACHYDACTYLY, TYPE B1
chr9	93526351	93526354	ROR2	TRP	TER	749	602337.0009	BRACHYDACTYLY WITH NAIL DYSPLASIA, HEREDITARY
chr9	93526438	93526441	ROR2	TRP	TER	720	602337.0006	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
chr9	93527092	93527093	ROR2	GLN	TER	502	602337.0004	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
chr9	93539502	93539503	ROR2	ARG	TER	205	602337.0007	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
chr9	93539565	93539566	ROR2	ARG	CYS	184	602337.0005	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
chr9	93559482	93559483	ROR2	ARG	TER	119	602337.0011	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
chr9	93840444	93840445	SPTLC1	GLY	ALA	387	605712.0004	NEUROPATHY, HEREDITARY SENSORY, TYPE I
chr9	93870197	93870198	SPTLC1	VAL	ASP	144	605712.0003	NEUROPATHY, HEREDITARY SENSORY, TYPE I
chr9	93882146	93882147	SPTLC1	CYS	TRP	133	605712.0002	NEUROPATHY, HEREDITARY SENSORY, TYPE I
chr9	93882147	93882148	SPTLC1	CYS	TYR	133	605712.0001	NEUROPATHY, HEREDITARY SENSORY, TYPE I
chr9	96405649	96405650	FBP1	PRO	ARG	284	611570.0006	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
chr9	96409041	96409042	FBP1	PHE	SER	194	611570.0005	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
chr9	96412060	96412061	FBP1	ALA	ASP	177	611570.0003	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
chr9	96412100	96412101	FBP1	GLY	SER	164	611570.0002	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
chr9	96441325	96441326	FBP1	GLU	TER	30	611570.0004	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
chr9	96903825	96903826	FANCC	LEU	PRO	554	227645.0001	FANCONI ANEMIA, COMPLEMENTATION GROUP C
chr9	96903844	96903845	FANCC	ARG	TER	548	227645.0005	FANCONI ANEMIA, COMPLEMENTATION GROUP C
chr9	96909214	96909215	FANCC	LEU	ARG	496	227645.0008	FANCONI ANEMIA, COMPLEMEMENTATION GROUP C
chr9	96952158	96952159	FANCC	ARG	TER	185	227645.0002	FANCONI ANEMIA, COMPLEMENTATION GROUP C
chr9	97051357	97051358	FANCC	GLN	TER	13	227645.0004	FANCONI ANEMIA, COMPLEMENTATION GROUP C
chr9	97258508	97258509	PTCH1	VAL	GLY	908	601309.0015	HOLOPROSENCEPHALY 7
chr9	97260128	97260129	PTCH1	THR	MET	1052	601309.0014	HOLOPROSENCEPHALY 7
chr9	97261866	97261867	PTCH1	VAL	GLY	908	601309.0015	HOLOPROSENCEPHALY 7
chr9	97269299	97269300	PTCH1	SER	GLY	827	601309.0013	HOLOPROSENCEPHALY 7
chr9	97270920	97270921	PTCH1	THR	MET	728	601309.0012	HOLOPROSENCEPHALY 7
chr9	97281137	97281138	PTCH1	ALA	THR	393	601309.0011	HOLOPROSENCEPHALY 7
chr9	97281140	97281141	PTCH1	ALA	THR	393	601309.0011	HOLOPROSENCEPHALY 7
chr9	97281236	97281237	PTCH1	GLN	TER	210	601309.0003	BASAL CELL NEVUS SYNDROME
chr9	98042879	98042880	HSD17B3	CYS	TYR	268	605573.0010	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
chr9	98042979	98042980	HSD17B3	MET	VAL	235	605573.0002	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
chr9	98042987	98042988	HSD17B3	SER	LEU	232	605573.0001	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
chr9	98046495	98046496	HSD17B3	ALA	VAL	203	605573.0004	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
chr9	98053584	98053585	HSD17B3	ASN	SER	130	605573.0009	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
chr9	98057008	98057009	HSD17B3	ARG	GLN	80	605573.0003	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
chr9	98057009	98057010	HSD17B3	ARG	TRP	80	605573.0007	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
chr9	98100553	98100554	HSD17B3	ALA	THR	56	605573.0008	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
chr9	99477681	99477682	XPA	ARG	TER	228	611153.0004	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
chr9	99487079	99487080	XPA	ARG	TER	207	611153.0005	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
chr9	99491677	99491678	XPA	TYR	TER	116	611153.0006	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
chr9	99491702	99491703	XPA	CYS	PHE	108	611153.0002	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
chr9	99656186	99656187	FOXE1	SER	ASN	57	602617.0002	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
chr9	99656210	99656211	FOXE1	ALA	VAL	65	602617.0001	BAMFORTH-LAZARUS SYNDROME
chr9	99656320	99656321	FOXE1	ARG	CYS	102	602617.0003	HYPOTHYROIDISM, THYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
chr9	100934788	100934789	TGFBR1	GLY	VAL	174	190181.0008	LOEYS-DIETZ SYNDROME, TYPE 2A
chr9	100939985	100939986	TGFBR1	THR	ILE	200	190181.0003	LOEYS-DIETZ SYNDROME, TYPE 1A
chr9	100940108	100940109	TGFBR1	SER	LEU	241	190181.0005	LOEYS-DIETZ SYNDROME, TYPE 1A
chr9	100944785	100944786	TGFBR1	MET	ARG	318	190181.0001	LOEYS-DIETZ SYNDROME, TYPE 1A
chr9	100948655	100948656	TGFBR1	ASP	GLY	400	190181.0002	LOEYS-DIETZ SYNDROME, TYPE 1A
chr9	100951354	100951355	TGFBR1	ARG	TRP	487	190181.0007	LOEYS-DIETZ SYNDROME, TYPE 2A
chr9	100951355	100951356	TGFBR1	ARG	PRO	487	190181.0004	LOEYS-DIETZ SYNDROME, TYPE 1A LOEYS-DIETZ SYNDROME, TYPE 2A, INCLUDED
chr9	100951355	100951356	TGFBR1	ARG	GLN	487	190181.0006	LOEYS-DIETZ SYNDROME, TYPE 2A
chr9	102066937	102066938	INVS	LEU	SER	493	243305.0002	NEPHRONOPHTHISIS 2
chr9	102086444	102086445	INVS	ARG	TER	603	243305.0001	NEPHRONOPHTHISIS 2
chr9	103173281	103173282	BAAT	MET	VAL	76	602938.0001	HYPERCHOLANEMIA, FAMILIAL
chr9	103227634	103227635	ALDOB	CYS	TER	240	612724.0005	FRUCTOSE INTOLERANCE
chr9	106590570	106590571	ABCA1	PHE	SER	2009	600046.0019	HIGH DENSITY LIPOPROTEIN DEFICIENCY
chr9	106600605	106600606	ABCA1	ARG	TRP	1680	600046.0017	TANGIER DISEASE, VARIANT
chr9	106620931	106620932	ABCA1	ASP	TYR	1099	600046.0018	HIGH DENSITY LIPOPROTEIN DEFICIENCY
chr9	106624621	106624622	ABCA1	ASN	SER	935	600046.0014	TANGIER DISEASE
chr9	106624622	106624623	ABCA1	ASN	HIS	935	600046.0015	TANGIER DISEASE
chr9	106633199	106633200	ABCA1	TYR	TER	573	600046.0023	TANGIER DISEASE
chr9	106660687	106660688	ABCA1	ARG	LYS	219	600046.0024	CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST
chr9	107398732	107398733	FKTN	ARG	TER	47	607440.0002	FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY
chr9	107403420	107403421	FKTN	ALA	THR	114	607440.0014	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
chr9	107403426	107403427	FKTN	GLN	TER	116	607440.0007	WALKER-WARBURG SYNDROME
chr9	107406319	107406320	FKTN	GLY	SER	125	607440.0012	WALKER-WARBURG SYNDROME
chr9	107406455	107406456	FKTN	ALA	GLU	170	607440.0016	FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY
chr9	107406473	107406474	FKTN	PHE	SER	176	607440.0015	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
chr9	107406482	107406483	FKTN	ARG	THR	179	607440.0011	CARDIOMYOPATHY, DILATED, 1X
chr9	107420069	107420070	FKTN	ARG	GLN	307	607440.0009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
chr9	107422063	107422064	FKTN	GLN	PRO	358	607440.0010	CARDIOMYOPATHY, DILATED, 1X
chr9	107422102	107422103	FKTN	TYR	CYS	371	607440.0017	FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY
chr9	110696162	110696163	IKBKAP	PRO	LEU	914	603722.0003	FAMILIAL DYSAUTONOMIA
chr9	110702403	110702404	IKBKAP	ARG	PRO	696	603722.0002	FAMILIAL DYSAUTONOMIA
chr9	112602846	112602847	MUSK	VAL	MET	790	601296.0001	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
chr9	115191185	115191186	ALAD	VAL	MET	275	125270.0002	PORPHYRIA, ACUTE HEPATIC
chr9	115191188	115191189	ALAD	ALA	THR	274	125270.0005	PORPHYRIA, ACUTE HEPATIC
chr9	115191621	115191622	ALAD	ARG	TRP	240	125270.0004	PORPHYRIA, ACUTE HEPATIC
chr9	115192898	115192899	ALAD	GLY	ARG	133	125270.0001	PORPHYRIA, ACUTE HEPATIC
chr9	115193711	115193712	ALAD	LYS	ASN	59	125270.0003	AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM
chr9	115195626	115195629	ALAD	PHE	LEU	12	125270.0006	PORPHYRIA, ACUTE HEPATIC, DIGENIC
chr9	118500229	118500230	TRIM32	PRO	SER	130	602290.0002	BARDET-BIEDL SYNDROME 11
chr9	118501022	118501023	TRIM32	ARG	HIS	394	602290.0004	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H
chr9	118501300	118501301	TRIM32	ASP	ASN	487	602290.0001	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H
chr9	119515122	119515123	TLR4	ASP	GLY	299	603030.0001	 COLORECTAL CANCER, SUSCEPTIBILITY TO, INCLUDED
chr9	119515122	119515123	TLR4	ASP	GLY	299	603030.0001	ENDOTOXIN HYPORESPONSIVENESS MACULAR DEGENERATION, AGE-RELATED, 10, SUSCEPTIBILITY TO, INCLUDED
chr9	119515422	119515423	TLR4	THR	ILE	399	603030.0002	ENDOTOXIN HYPORESPONSIVENESS
chr9	122825503	122825504	C5	LYS	ARG	372	120900.0004	COMPLEMENT COMPONENT 5 DEFICIENCY
chr9	126284933	126284934	NR5A1	LEU	GLN	437	184757.0010	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE
chr9	126295242	126295243	NR5A1	ASP	ASN	293	184757.0012	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE PREMATURE OVARIAN FAILURE 7, INCLUDED
chr9	126302295	126302296	NR5A1	ARG	LEU	255	184757.0002	ADRENOCORTICAL INSUFFICIENCY
chr9	126302673	126302674	NR5A1	PRO	LEU	129	184757.0016	PREMATURE OVARIAN FAILURE 7
chr9	126302691	126302692	NR5A1	GLY	ALA	123	184757.0016	PREMATURE OVARIAN FAILURE 7
chr9	126302784	126302785	NR5A1	ARG	GLN	92	184757.0003	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE
chr9	126302788	126302789	NR5A1	GLY	SER	91	184757.0009	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE
chr9	126305188	126305189	NR5A1	MET	ILE	78	184757.0008	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE
chr9	126305447	126305448	NR5A1	CYS	TER	16	184757.0005	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE
chr9	126305452	126305453	NR5A1	VAL	MET	15	184757.0007	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE
chr9	126305492	126305493	NR5A1	MET	ILE	1	184757.0013	46,XY GONADAL DYSGENESIS, PARTIAL, WITHOUT ADRENAL FAILURE PREMATURE OVARIAN FAILURE 7, INCLUDED
chr9	128417586	128417587	LMX1B	GLN	TER	59	602575.0006	NAIL-PATELLA SYNDROME
chr9	128492961	128492962	LMX1B	CYS	PHE	95	602575.0004	NAIL-PATELLA SYNDROME
chr9	128495342	128495343	LMX1B	ARG	TER	198	602575.0002	NAIL-PATELLA SYNDROME
chr9	128495349	128495350	LMX1B	ARG	GLN	200	602575.0008	NAIL-PATELLA SYNDROME
chr9	128495372	128495373	LMX1B	ARG	TER	208	602575.0007	NAIL-PATELLA SYNDROME
chr9	128495626	128495627	LMX1B	ARG	TER	226	602575.0011	NAIL-PATELLA SYNDROME
chr9	128495688	128495689	LMX1B	ASN	LYS	246	602575.0001	NAIL-PATELLA SYNDROME
chr9	129462133	129462134	STXBP1	VAL	ASP	84	602926.0004	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
chr9	129465413	129465414	STXBP1	CYS	TYR	180	602926.0002	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
chr9	129477954	129477955	STXBP1	ARG	TER	388	602926.0005	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
chr9	129478821	129478822	STXBP1	MET	ARG	443	602926.0003	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
chr9	129484588	129484589	STXBP1	GLY	ASP	544	602926.0001	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
chr9	129622033	129622034	ENG	GLY	VAL	413	131195.0007	HEREDITARY HEMORRHAGIC TELANGIECTASIA
chr9	129627059	129627060	ENG	TYR	TER	277	131195.0001	HEREDITARY HEMORRHAGIC TELANGIECTASIA
chr9	129631786	129631787	ENG	TYR	TER	120	131195.0009	HEREDITARY HEMORRHAGIC TELANGIECTASIA
chr9	129656453	129656454	ENG	MET	THR	1	131195.0006	HEREDITARY HEMORRHAGIC TELANGIECTASIA
chr9	129670445	129670446	AK1	TYR	CYS	164	103000.0003	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
chr9	129670554	129670555	AK1	ARG	TRP	128	103000.0001	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
chr9	129673927	129673928	AK1	ARG	TER	107	103000.0002	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
chr9	129674806	129674807	AK1	GLY	ARG	64	103000.0005	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
chr9	129674878	129674879	AK1	GLY	ARG	40	103000.0004	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
chr9	130147366	130147367	SLC27A4	ALA	THR	92	604194.0003	ICHTHYOSIS PREMATURITY SYNDROME
chr9	130147596	130147597	SLC27A4	CYS	TER	168	604194.0001	ICHTHYOSIS PREMATURITY SYNDROME
chr9	130152434	130152435	SLC27A4	SER	PRO	247	604194.0004	ICHTHYOSIS PREMATURITY SYNDROME
chr9	130154758	130154759	SLC27A4	GLN	ARG	300	604194.0005	ICHTHYOSIS PREMATURITY SYNDROME
chr9	130157869	130157870	SLC27A4	ARG	HIS	583	604194.0007	ICHTHYOSIS PREMATURITY SYNDROME
chr9	130338513	130338514	GLE1	ARG	HIS	569	603371.0002	LETHAL CONGENITAL CONTRACTURE SYNDROME 1
chr9	130340157	130340158	GLE1	VAL	MET	617	603371.0003	LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE
chr9	130343223	130343224	GLE1	ILE	THR	684	603371.0004	LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE
chr9	132728126	132728127	ABL1	GLU	LYS	255	189980.0003	LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
chr9	132728127	132728128	ABL1	GLU	VAL	255	189980.0002	LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
chr9	132728177	132728178	ABL1	TYR	HIS	253	189980.0004	LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
chr9	132728183	132728184	ABL1	GLU	LYS	255	189980.0003	LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
chr9	132728184	132728185	ABL1	GLU	VAL	255	189980.0002	LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
chr9	132738090	132738093	ABL1	PHE	LEU	311	189980.0005	CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB
chr9	132738103	132738104	ABL1	THR	ILE	315	189980.0001	LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
chr9	132738211	132738212	ABL1	MET	THR	351	189980.0006	CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB
chr9	133371391	133371392	POMT1	GLY	ARG	65	607423.0006	MUSCULAR DYSTROPHY, CONGENITAL, PLUS MENTAL RETARDATION
chr9	133371391	133371392	POMT1	GLY	ARG	65	607423.0010	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
chr9	133371424	133371425	POMT1	GLY	ARG	76	607423.0001	WALKER-WARBURG SYNDROME
chr9	133375008	133375009	POMT1	ALA	PRO	200	607423.0005	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
chr9	133375608	133375609	POMT1	GLN	TER	303	607423.0002	WALKER-WARBURG SYNDROME
chr9	133384152	133384153	POMT1	ARG	TER	514	607423.0008	MUSCULAR DYSTROPHY, CONGENITAL, PLUS MENTAL RETARDATION
chr9	133385382	133385383	POMT1	TRP	CYS	582	607423.0007	MUSCULAR DYSTROPHY, CONGENITAL, PLUS MENTAL RETARDATION
chr9	133386558	133386559	POMT1	GLN	HIS	590	607423.0009	MUSCULAR DYSTROPHY, CONGENITAL, PLUS MENTAL RETARDATION
chr9	133386558	133386559	POMT1	GLN	HIS	590	607423.0012	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
chr9	133387367	133387368	POMT1	ALA	THR	669	607423.0013	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
chr9	134146690	134146691	SETX	PRO	LEU	2213	608465.0003	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134148610	134148611	SETX	ARG	HIS	2136	608465.0008	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
chr9	134162114	134162115	SETX	LEU	PHE	1977	608465.0012	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134162116	134162117	SETX	LEU	ARG	1976	608465.0009	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134192718	134192719	SETX	ARG	TER	1363	608465.0001	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134192925	134192926	SETX	ARG	CYS	1294	608465.0011	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134194203	134194204	SETX	GLN	TER	868	608465.0002	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134194848	134194849	SETX	GLN	LYS	653	608465.0010	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134194998	134194999	SETX	ASN	ASP	603	608465.0010	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134195639	134195640	SETX	LEU	SER	389	608465.0006	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
chr9	134196330	134196331	SETX	GLU	TER	343	608465.0013	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134196500	134196501	SETX	ARG	TRP	332	608465.0005	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134199831	134199832	SETX	MET	ILE	274	608465.0011	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
chr9	134214628	134214629	SETX	THR	ILE	3	608465.0007	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
chr9	134768872	134768873	TSC1	HIS	TYR	732	605284.0007	FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB TUBEROUS SCLEROSIS 1, INCLUDED
chr9	134777653	134777654	TSC1	LEU	TER	250	605284.0002	TUBEROUS SCLEROSIS 1
chr9	134786636	134786637	TSC1	MET	ARG	224	605284.0008	TUBEROUS SCLEROSIS 1
chr9	134787150	134787151	TSC1	LEU	PRO	180	605284.0009	TUBEROUS SCLEROSIS 1
chr9	134788568	134788569	TSC1	CYS	TER	165	605284.0006	LYMPHANGIOLEIOMYOMATOSIS
chr9	135121134	135121135	ABO	GLY	ALA	268	110300.0004	BLOOD GROUP CIS-AB
chr9	135121237	135121238	ABO	PRO	ALA	234	110300.0005	BLOOD GROUP B(A)
chr9	135208749	135208750	SURF1	TYR	ASP	274	185620.0010	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
chr9	135209121	135209122	SURF1	GLN	TER	251	185620.0006	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
chr9	135210568	135210569	SURF1	GLY	GLU	124	185620.0012	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
chr9	135279374	135279375	ADAMTS13	HIS	ASP	96	604134.0001	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135279392	135279393	ADAMTS13	ARG	CYS	102	604134.0003	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135281186	135281187	ADAMTS13	THR	ILE	196	604134.0004	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135283636	135283637	ADAMTS13	ALA	VAL	250	604134.0020	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135283690	135283691	ADAMTS13	ARG	PRO	268	604134.0014	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135288418	135288419	ADAMTS13	ARG	HIS	398	604134.0005	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135291802	135291803	ADAMTS13	GLN	GLU	448	604134.0015	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135291805	135291806	ADAMTS13	GLN	TER	449	604134.0013	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135291883	135291884	ADAMTS13	PRO	SER	475	604134.0016	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135292776	135292777	ADAMTS13	CYS	TYR	508	604134.0015	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135292835	135292836	ADAMTS13	ARG	GLY	528	604134.0007	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135297445	135297446	ADAMTS13	ARG	CYS	692	604134.0011	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135303659	135303660	ADAMTS13	CYS	GLY	951	604134.0002	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135309382	135309383	ADAMTS13	CYS	GLY	1024	604134.0006	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135309475	135309476	ADAMTS13	CYS	GLY	1024	604134.0006	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135311080	135311081	ADAMTS13	CYS	TYR	1213	604134.0010	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
chr9	135394741	135394742	ADAMTSL2	ARG	HIS	113	612277.0002	GELEOPHYSIC DYSPLASIA
chr9	135394743	135394744	ADAMTSL2	GLU	LYS	114	612277.0003	GELEOPHYSIC DYSPLASIA
chr9	135395567	135395568	ADAMTSL2	PRO	LEU	147	612277.0001	GELEOPHYSIC DYSPLASIA
chr9	135425441	135425444	ADAMTSL2	TRP	TER	862	612277.0005	GELEOPHYSIC DYSPLASIA
chr9	136806567	136806568	COL5A1	ARG	TER	792	120215.0009	EHLERS-DANLOS SYNDROME, TYPE I
chr9	136851801	136851802	COL5A1	GLY	GLU	1489	120215.0007	EHLERS-DANLOS SYNDROME, TYPE I
chr9	138230423	138230426	LHX3	TRP	TER	224	600577.0007	PITUITARY HORMONE DEFICIENCY, COMBINED, 3
chr9	138230464	138230465	LHX3	ALA	VAL	210	600577.0004	PITUITARY HORMONE DEFICIENCY, COMBINED, 3
chr9	138231466	138231467	LHX3	TYR	CYS	116	600577.0001	PITUITARY HORMONE DEFICIENCY, COMBINED, 3
chr9	138232366	138232367	LHX3	LYS	TER	50	600577.0009	PITUITARY HORMONE DEFICIENCY, COMBINED, 3
chr9	138384634	138384635	CARD9	GLN	TER	295	607212.0001	CANDIDIASIS, FAMILIAL, 2
chr9	138444003	138444004	INPP5E	GLN	TER	627	613037.0001	MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS
chr9	138444663	138444664	INPP5E	ARG	HIS	563	613037.0003	JOUBERT SYNDROME 1
chr9	138446102	138446103	INPP5E	ARG	TRP	515	613037.0002	JOUBERT SYNDROME 1
chr9	138446834	138446835	INPP5E	ARG	GLN	435	613037.0004	JOUBERT SYNDROME 1
chr9	138447454	138447455	INPP5E	ARG	CYS	378	613037.0005	JOUBERT SYNDROME 1
chr9	138688178	138688179	AGPAT2	LEU	PRO	228	603100.0004	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
chr9	138689025	138689026	AGPAT2	LYS	TER	215	603100.0006	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
chr9	138689025	138689026	AGPAT2	PHE	TER	189	603100.0008	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
chr9	138691809	138691810	AGPAT2	ARG	TER	68	603100.0001	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
chr9	139247506	139247507	SLC34A3	GLY	ARG	196	609826.0006	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
chr9	139247676	139247677	SLC34A3	GLN	GLN	252	609826.0009	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
chr9	139247994	139247995	SLC34A3	PRO	PRO	282	609826.0004	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
chr9	139248513	139248514	SLC34A3	ARG	LEU	353	609826.0002	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
chr9	139248906	139248907	SLC34A3	ALA	GLU	413	609826.0003	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
chr9	139250290	139250291	SLC34A3	ARG	TRP	468	609826.0007	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
chr9	139463746	139463747	NELF	THR	ALA	480	608137.0001	HYPOGONADOTROPIC HYPOGONADISM
chr9	139463928	139463929	NELF	THR	ALA	480	608137.0001	HYPOGONADOTROPIC HYPOGONADISM
chr10	3814002	3814003	KLF6	LEU	PRO	169	602053.0005	PROSTATE CANCER, SOMATIC
chr10	3814045	3814048	KLF6	SER	ARG	155	602053.0006	GASTRIC CANCER, SOMATIC
chr10	3814098	3814099	KLF6	SER	TER	137	602053.0002	PROSTATE CANCER, SOMATIC
chr10	3814140	3814141	KLF6	ALA	ASP	123	602053.0003	PROSTATE CANCER, SOMATIC
chr10	3814162	3814163	KLF6	SER	PRO	116	602053.0001	PROSTATE CANCER, SOMATIC
chr10	3814318	3814319	KLF6	TRP	ARG	64	602053.0004	PROSTATE CANCER, SOMATIC
chr10	8146005	8146006	GATA3	TRP	ARG	275	131320.0006	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
chr10	8146011	8146012	GATA3	ARG	TER	277	131320.0005	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
chr10	8155715	8155716	GATA3	ARG	SER	353	131320.0012	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
chr10	8155755	8155756	GATA3	ARG	TER	367	131320.0008	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
chr10	13191275	13191276	OPTN	GLU	LYS	50	602432.0001	GLAUCOMA 1, OPEN ANGLE, E
chr10	13192405	13192406	OPTN	MET	LYS	98	602432.0004	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO GLAUCOMA 1, OPEN ANGLE, E, INCLUDED
chr10	13218771	13218772	OPTN	ARG	GLN	545	602432.0003	GLAUCOMA 1, OPEN ANGLE, E
chr10	13365699	13365700	PHYH	ARG	GLN	275	602026.0009	REFSUM DISEASE, ADULT, 1
chr10	13365700	13365701	PHYH	ARG	TRP	275	602026.0001	REFSUM DISEASE, ADULT, 1
chr10	13365718	13365719	PHYH	ASN	HIS	269	602026.0004	REFSUM DISEASE, ADULT, 1
chr10	13370433	13370434	PHYH	GLY	SER	204	602026.0008	REFSUM DISEASE, ADULT, 1
chr10	13370517	13370518	PHYH	GLN	LYS	176	602026.0007	REFSUM DISEASE, ADULT, 1
chr10	13380241	13380242	PHYH	PRO	SER	29	602026.0006	REFSUM DISEASE, ADULT, 1
chr10	15008883	15008884	DCLRE1C	TYR	TER	192	605988.0009	SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN-TYPE
chr10	15018542	15018543	DCLRE1C	MET	THR	1	605988.0012	OMENN SYNDROME
chr10	15021829	15021830	DCLRE1C	MET	THR	1	605988.0012	OMENN SYNDROME
chr10	15035912	15035913	DCLRE1C	HIS	ASP	35	605988.0013	OMENN SYNDROME
chr10	15036013	15036014	DCLRE1C	MET	THR	1	605988.0012	OMENN SYNDROME
chr10	17123164	17123165	CUBN	PRO	LEU	1297	602997.0001	MEGALOBLASTIC ANEMIA 1, FINNISH TYPE
chr10	17311877	17311878	VIM	GLU	LYS	151	193060.0001	CATARACT, PULVERULENT, AUTOSOMAL DOMINANT
chr10	18868279	18868280	CACNB2	SER	LEU	481	600003.0001	BRUGADA SYNDROME 4
chr10	23522739	23522740	PTF1A	ARG	TER	296	607194.0001	DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
chr10	26497663	26497664	MYO3A	TYR	TER	1043	606808.0001	DEAFNESS, AUTOSOMAL RECESSIVE 30
chr10	27064411	27064412	PDSS1	ASP	GLU	308	607429.0001	COENZYME Q10 DEFICIENCY
chr10	27490064	27490065	MASTL	GLU	ASP	167	608221.0001	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2
chr10	31790145	31790146	ZEB1	ASN	THR	78	189909.0003	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
chr10	31850787	31850788	ZEB1	GLN	PRO	840	189909.0004	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
chr10	42915933	42915934	RET	SER	LEU	32	164761.0018	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42915973	42915974	RET	ALA	ALA	45	164761.0038	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42916029	42916030	RET	PRO	LEU	64	164761.0019	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42917798	42917799	RET	ARG	HIS	114	164761.0045	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
chr10	42917863	42917864	RET	GLU	TER	136	164761.0020	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42917995	42917996	RET	ARG	TER	180	164761.0021	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42918049	42918050	RET	PRO	THR	198	164761.0054	RENAL AGENESIS
chr10	42920471	42920472	RET	ARG	HIS	231	164761.0035	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42921899	42921900	RET	ARG	GLN	313	164761.0028	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42921950	42921951	RET	ARG	GLN	330	164761.0022	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42924597	42924600	RET	PHE	LEU	393	164761.0023	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42927626	42927627	RET	GLY	CYS	533	164761.0048	THYROID CARCINOMA, FAMILIAL MEDULLARY
chr10	42929074	42929075	RET	CYS	ARG	609	164761.0042	THYROID CARCINOMA, FAMILIAL MEDULLARY
chr10	42929075	42929076	RET	CYS	TYR	609	164761.0029	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
chr10	42929082	42929083	RET	CYS	TRP	611	164761.0007	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
chr10	42929101	42929102	RET	CYS	GLY	618	164761.0001	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
chr10	42929101	42929104	RET	CYS	SER	618	164761.0008	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
chr10	42929101	42929102	RET	CYS	ARG	618	164761.0025	THYROID CARCINOMA, FAMILIAL MEDULLARY
chr10	42929107	42929108	RET	CYS	ARG	620	164761.0009	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
chr10	42929107	42929110	RET	CYS	SER	620	164761.0041	THYROID CARCINOMA, FAMILIAL MEDULLARY
chr10	42929108	42929109	RET	CYS	TYR	620	164761.0010	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
chr10	42929108	42929109	RET	CYS	PHE	620	164761.0024	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
chr10	42929109	42929110	RET	CYS	TRP	620	164761.0032	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
chr10	42929953	42929954	RET	CYS	GLY	634	164761.0003	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH CUTANEOUS LICHEN AMYLOIDOSIS PHEOCHROMOCYTOMA, INCLUDED
chr10	42929953	42929956	RET	CYS	SER	634	164761.0005	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED
chr10	42929953	42929954	RET	CYS	ARG	634	164761.0011	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED
chr10	42929954	42929955	RET	CYS	TYR	634	164761.0004	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED
chr10	42929954	42929955	RET	CYS	PHE	634	164761.0006	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
chr10	42929954	42929955	RET	CYS	PHE	634	164761.0006	 PHEOCHROMOCYTOMA, INCLUDED
chr10	42929955	42929956	RET	CYS	TRP	634	164761.0012	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PHEOCHROMOCYTOMA, INCLUDED
chr10	42929972	42929973	RET	ALA	GLY	640	164761.0040	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
chr10	42929994	42929995	RET	ILE	ILE	647	164761.0037	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42929995	42929996	RET	VAL	ILE	648	164761.0047	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
chr10	42933834	42933835	RET	SER	PRO	765	164761.0015	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42933845	42933846	RET	GLU	ASP	768	164761.0027	THYROID CARCINOMA, FAMILIAL MEDULLARY
chr10	42933873	42933874	RET	VAL	ILE	778	164761.0053	RENAL AGENESIS
chr10	42933911	42933912	RET	LEU	PHE	790	164761.0033	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
chr10	42933913	42933914	RET	TYR	PHE	791	164761.0034	THYROID CARCINOMA, FAMILIAL MEDULLARY PHEOCHROMOCYTOMA, INCLUDED
chr10	42935001	42935002	RET	VAL	MET	804	164761.0043	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
chr10	42935001	42935002	RET	VAL	LEU	804	164761.0044	THYROID CARCINOMA, FAMILIAL MEDULLARY
chr10	42935597	42935598	RET	SER	ALA	891	164761.0049	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
chr10	42935616	42935617	RET	ARG	GLN	897	164761.0016	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42935637	42935638	RET	SER	CYS	904	164761.0043	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
chr10	42937421	42937422	RET	MET	THR	918	164761.0013	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB THYROID CARCINOMA, SPORADIC MEDULLARY, INCLUDED
chr10	42937421	42937422	RET	MET	THR	918	164761.0013	 PHEOCHROMOCYTOMA, SOMATIC, INCLUDED
chr10	42937421	42937422	RET	MET	THR	918	164761.0013	 RENAL AGENESIS, INCLUDED
chr10	42939236	42939237	RET	ARG	GLY	972	164761.0017	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42940340	42940341	RET	ARG	CYS	982	164761.0036	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
chr10	42942104	42942105	RET	PRO	LEU	1039	164761.0046	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE
chr10	50348727	50348728	ERCC6	PRO	ARG	1095	609413.0008	COCKAYNE SYNDROME, TYPE B
chr10	50349136	50349137	ERCC6	LEU	PRO	987	609413.0013	CEREBROOCULOFACIOSKELETAL SYNDROME
chr10	50356488	50356489	ERCC6	ARG	TER	735	609413.0002	COCKAYNE SYNDROME, TYPE B DE SANCTIS-CACCHIONE SYNDROME, INCLUDED
chr10	50360860	50360861	ERCC6	ARG	TER	683	609413.0012	CEREBROOCULOFACIOSKELETAL SYNDROME
chr10	50378725	50378728	ERCC6	TRP	TER	517	609413.0001	COCKAYNE SYNDROME, TYPE B
chr10	50402124	50402125	ERCC6	ARG	TER	453	609413.0004	COCKAYNE SYNDROME, TYPE B
chr10	50410787	50410788	ERCC6	ARG	TER	77	609413.0009	UV-SENSITIVE SYNDROME
chr10	50498595	50498596	CHAT	LEU	PRO	210	118490.0007	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
chr10	50498597	50498598	CHAT	PRO	ALA	211	118490.0002	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
chr10	50503685	50503686	CHAT	ILE	THR	305	118490.0009	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
chr10	50524702	50524703	CHAT	ARG	CYS	420	118490.0010	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
chr10	50526597	50526598	CHAT	GLU	LYS	441	118490.0003	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
chr10	50527620	50527621	CHAT	ARG	GLY	482	118490.0005	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
chr10	50527669	50527670	CHAT	SER	LEU	498	118490.0008	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
chr10	50529939	50529940	CHAT	VAL	LEU	506	118490.0004	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
chr10	50533190	50533191	CHAT	ARG	HIS	560	118490.0006	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
chr10	54201231	54201232	MBL2	GLY	GLU	57	154545.0002	MANNOSE-BINDING PROTEIN DEFICIENCY
chr10	54201240	54201241	MBL2	GLY	ASP	54	154545.0001	MANNOSE-BINDING PROTEIN DEFICIENCY GESTATIONAL DIABETES MELLITUS, SUSCEPTIBILITY TO, INCLUDED
chr10	54201247	54201248	MBL2	ARG	CYS	52	154545.0003	MANNOSE-BINDING PROTEIN DEFICIENCY PRETERM DELIVERY, SUSCEPTIBILITY TO, INCLUDED
chr10	55519806	55519807	PCDH15	SER	TER	647	605514.0009	USHER SYNDROME, TYPE IF
chr10	55747127	55747128	PCDH15	GLY	ASP	262	605514.0006	DEAFNESS, AUTOSOMAL RECESSIVE 23
chr10	55747179	55747180	PCDH15	ARG	TER	245	605514.0004	USHER SYNDROME, TYPE IF
chr10	55798959	55798960	PCDH15	ARG	GLY	134	605514.0007	DEAFNESS, AUTOSOMAL RECESSIVE 23
chr10	56094021	56094022	PCDH15	ARG	TER	3	605514.0002	USHER SYNDROME, TYPE IF
chr10	64243169	64243170	EGR2	GLU	LYS	412	129010.0005	DEJERINE-SOTTAS NEUROPATHY
chr10	64243178	64243179	EGR2	ARG	TRP	409	129010.0002	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D
chr10	64243178	64243179	EGR2	SER	ARG	382	129010.0003	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
chr10	64243178	64243179	EGR2	ARG	TRP	359	129010.0004	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, INCLUDED
chr10	64243256	64243257	EGR2	ASP	TYR	383	129010.0003	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
chr10	64243259	64243262	EGR2	SER	ARG	382	129010.0003	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
chr10	64243328	64243329	EGR2	ARG	TRP	359	129010.0004	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, INCLUDED
chr10	64243600	64243601	EGR2	ILE	ASN	268	129010.0001	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE
chr10	70311865	70311866	STOX1	TYR	HIS	153	609397.0001	PREECLAMPSIA/ECLAMPSIA 4
chr10	70315381	70315382	STOX1	GLU	ASP	608	609397.0002	PREECLAMPSIA/ECLAMPSIA 4
chr10	70418843	70418844	KIAA1279	GLU	TER	84	609367.0002	GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
chr10	70418861	70418862	KIAA1279	ARG	TER	90	609367.0001	GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
chr10	70814109	70814110	HK1	LEU	SER	529	142600.0002	HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA
chr10	71002486	71002487	NEUROG3	ARG	SER	107	604882.0001	DIARRHEA 4, MALABSORPTIVE, CONGENITAL
chr10	71002527	71002528	NEUROG3	ARG	LEU	93	604882.0002	DIARRHEA 4, MALABSORPTIVE, CONGENITAL
chr10	71865160	71865161	NODAL	GLY	ARG	260	601265.0002	HETEROTAXY, VISCERAL, 5, AUTOSOMAL
chr10	71865390	71865391	NODAL	ARG	GLN	183	601265.0001	HETEROTAXY, VISCERAL, 5, AUTOSOMAL
chr10	72028178	72028179	PRF1	THR	MET	435	170280.0010	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
chr10	72028196	72028197	PRF1	GLY	GLU	429	170280.0005	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
chr10	72028236	72028237	PRF1	GLN	TER	416	170280.0016	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
chr10	72028319	72028320	PRF1	SER	ILE	388	170280.0012	APLASTIC ANEMIA
chr10	72028362	72028365	PRF1	TRP	TER	374	170280.0002	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 LYMPHOMA, NON-HODGKIN, INCLUDED
chr10	72028448	72028449	PRF1	PRO	LEU	345	170280.0006	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
chr10	72028646	72028647	PRF1	CYS	TYR	279	170280.0007	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
chr10	72028727	72028728	PRF1	ASN	SER	252	170280.0009	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 LYMPHOMA, NON-HODGKIN, INCLUDED
chr10	72028809	72028810	PRF1	ARG	TRP	225	170280.0004	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
chr10	72028934	72028935	PRF1	VAL	GLY	183	170280.0008	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
chr10	72030392	72030393	PRF1	ALA	VAL	91	170280.0011	 APLASTIC ANEMIA, SUSCEPTIBILITY TO, INCLUDED
chr10	72030392	72030393	PRF1	ALA	VAL	91	170280.0011	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, SUSCEPTIBILITY TO LYMPHOMA, NON-HODGKIN, SUSCEPTIBILITY TO, INCLUDED
chr10	72030474	72030475	PRF1	GLN	TER	64	170280.0003	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
chr10	72030653	72030654	PRF1	ARG	HIS	4	170280.0013	APLASTIC ANEMIA
chr10	72313768	72313769	PCBD1	GLU	TER	87	126090.0001	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
chr10	72313783	72313784	PCBD1	CYS	ARG	82	126090.0002	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
chr10	72792221	72792222	SLC29A3	GLY	SER	427	612373.0001	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, HEARING LOSS, AND HYPOGONADISM
chr10	72792251	72792252	SLC29A3	GLY	ARG	437	612373.0002	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, HEARING LOSS, AND HYPOGONADISM
chr10	73000646	73000647	CDH23	PRO	LEU	240	605516.0014	DEAFNESS, AUTOSOMAL RECESSIVE 12
chr10	73045335	73045336	CDH23	ARG	GLN	301	605516.0015	DEAFNESS, AUTOSOMAL RECESSIVE 12
chr10	73160276	73160277	CDH23	THR	ALA	1209	605516.0013	USHER SYNDROME, TYPE ID USHER SYNDROME, DIGENIC, TYPE ID/F, INCLUDED
chr10	73162054	73162055	CDH23	ASP	ASN	1341	605516.0009	DEAFNESS, AUTOSOMAL RECESSIVE 12
chr10	73169534	73169535	CDH23	GLN	HIS	1496	605516.0001	USHER SYNDROME, TYPE ID
chr10	73209078	73209079	CDH23	ARG	GLN	1746	605516.0002	USHER SYNDROME, TYPE ID
chr10	73214813	73214814	CDH23	PHE	SER	1888	605516.0010	DEAFNESS, AUTOSOMAL RECESSIVE 12
chr10	73223132	73223133	CDH23	ASP	ASN	2148	605516.0008	DEAFNESS, AUTOSOMAL RECESSIVE 12
chr10	73242584	73242585	CDH23	ARG	TRP	3189	605516.0012	USHER SYNDROME, DIGENIC, TYPE ID/F
chr10	73249289	73249290	PSAP	GLN	TER	430	176801.0011	GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
chr10	73249523	73249524	PSAP	CYS	PHE	385	176801.0004	GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
chr10	73249524	73249525	PSAP	CYS	GLY	382	176801.0010	GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
chr10	73249622	73249623	PSAP	LEU	PRO	349	176801.0012	GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
chr10	73255655	73255658	PSAP	CYS	SER	241	176801.0003	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
chr10	73257846	73257847	PSAP	THR	ILE	217	176801.0001	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
chr10	73257853	73257854	PSAP	ASN	HIS	215	176801.0007	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
chr10	73280983	73280984	PSAP	MET	LEU	1	176801.0005	COMBINED SAP DEFICIENCY GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY, INCLUDED
chr10	73437397	73437398	CHST3	TYR	TER	201	603799.0006	HUMEROSPINAL DYSTOSIS
chr10	73437458	73437459	CHST3	ARG	TRP	222	603799.0003	SPONDYLOEPIPHYSEAL DYSPLASIA, CHST3-RELATED
chr10	73437570	73437571	CHST3	LEU	PRO	259	603799.0002	SPONDYLOEPIPHYSEAL DYSPLASIA, CHST3-RELATED
chr10	73437651	73437652	CHST3	LEU	PRO	286	603799.0007	SPONDYLOEPIPHYSEAL DYSPLASIA, CHST3-RELATED
chr10	73437705	73437706	CHST3	ARG	GLN	304	603799.0001	SPONDYLOEPIPHYSEAL DYSPLASIA, CHST3-RELATED
chr10	73437714	73437715	CHST3	LEU	PRO	307	603799.0004	HUMEROSPINAL DYSTOSIS
chr10	74680698	74680699	MRPS16	ARG	TER	111	609204.0001	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2
chr10	75512262	75512263	VCL	LEU	MET	277	193065.0003	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
chr10	75541849	75541850	VCL	ARG	TRP	975	193065.0002	CARDIOMYOPATHY, DILATED, 1W CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
chr10	78520196	78520197	KCNMA1	ASP	GLY	434	600150.0001	GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA
chr10	79465157	79465158	RPS24	ARG	TER	16	602412.0002	DIAMOND-BLACKFAN ANEMIA 3
chr10	79466993	79466994	RPS24	GLN	TER	106	602412.0001	DIAMOND-BLACKFAN ANEMIA 3
chr10	80987025	80987026	SFTPA2	GLY	VAL	231	178642.0001	PULMONARY FIBROSIS, IDIOPATHIC
chr10	80987124	80987125	SFTPA2	PHE	SER	198	178642.0002	PULMONARY FIBROSIS, IDIOPATHIC
chr10	81306970	81306971	SFTPA2	GLY	VAL	231	178642.0001	PULMONARY FIBROSIS, IDIOPATHIC
chr10	81307069	81307070	SFTPA2	PHE	SER	198	178642.0002	PULMONARY FIBROSIS, IDIOPATHIC
chr10	81363728	81363729	SFTPA1	ARG	TRP	219	178630.0001	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO
chr10	82024270	82024271	MAT1A	PRO	LEU	357	610550.0003	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
chr10	82024334	82024335	MAT1A	GLY	ARG	336	610550.0010	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
chr10	82024374	82024375	MAT1A	ILE	MET	322	610550.0001	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
chr10	82024789	82024790	MAT1A	LEU	PRO	305	610550.0004	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
chr10	82024912	82024913	MAT1A	ARG	HIS	264	610550.0007	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL DOMINANT
chr10	82024913	82024914	MAT1A	ARG	CYS	264	610550.0009	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
chr10	82035252	82035253	MAT1A	ALA	ASP	55	610550.0002	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE
chr10	85997442	85997445	RGR	SER	ARG	66	600342.0001	RETINITIS PIGMENTOSA 44
chr10	88436809	88436810	LDB3	ASP	ASN	117	605906.0007	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION
chr10	88436867	88436868	LDB3	LYS	MET	136	605906.0008	CARDIOMYOPATHY, DILATED, 1C
chr10	88436899	88436900	LDB3	ALA	THR	147	605906.0001	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED
chr10	88436954	88436955	LDB3	ALA	VAL	165	605906.0002	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED
chr10	88449060	88449061	LDB3	ARG	CYS	268	605906.0003	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED
chr10	88449060	88449061	LDB3	SER	LEU	196	605906.0005	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION
chr10	88649566	88649567	BMPR1A	CYS	ARG	124	601299.0006	JUVENILE POLYPOSIS SYNDROME
chr10	88666909	88666910	BMPR1A	GLN	TER	239	601299.0002	JUVENILE POLYPOSIS SYNDROME
chr10	88667005	88667008	BMPR1A	TRP	TER	271	601299.0003	JUVENILE POLYPOSIS SYNDROME
chr10	88669052	88669053	BMPR1A	ALA	ASP	338	601299.0005	JUVENILE POLYPOSIS SYNDROME
chr10	88669166	88669167	BMPR1A	CYS	TYR	376	601299.0007	JUVENILE POLYPOSIS SYNDROME
chr10	88673178	88673179	BMPR1A	MET	THR	470	601299.0008	JUVENILE POLYPOSIS SYNDROME
chr10	89254773	89254774	MINPP1	SER	LEU	41	605391.0001	THYROID CARCINOMA, FOLLICULAR
chr10	89258243	89258244	MINPP1	GLN	ARG	270	605391.0002	THYROID CARCINOMA, FOLLICULAR
chr10	89459047	89459048	PAPSS2	THR	ARG	48	603005.0002	SPONDYLODYSPLASIA AND PREMATURE PUBARCHE
chr10	89477139	89477140	PAPSS2	ARG	TER	329	603005.0003	SPONDYLODYSPLASIA AND PREMATURE PUBARCHE
chr10	89614260	89614261	PTEN	ASP	ASN	19	601728.0025	MALIGNANT MELANOMA, SOMATIC
chr10	89643785	89643786	PTEN	MET	ARG	35	601728.0011	COWDEN SYNDROME
chr10	89675293	89675294	PTEN	LEU	PRO	70	601728.0012	COWDEN SYNDROME-LIKE PHENOTYPE
chr10	89682773	89682774	PTEN	HIS	ARG	93	601728.0037	MACROCEPHALY/AUTISM SYNDROME
chr10	89682830	89682831	PTEN	LEU	PRO	112	601728.0020	LHERMITTE-DUCLOS DISEASE
chr10	89682857	89682858	PTEN	ALA	GLY	121	601728.0031	SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC
chr10	89682863	89682864	PTEN	HIS	ARG	123	601728.0005	COWDEN DISEASE
chr10	89682865	89682866	PTEN	CYS	ARG	124	601728.0006	COWDEN DISEASE
chr10	89682865	89682868	PTEN	CYS	SER	124	601728.0023	COWDEN DISEASE
chr10	89682881	89682882	PTEN	GLY	GLU	129	601728.0001	COWDEN DISEASE
chr10	89682883	89682884	PTEN	ARG	TER	130	601728.0007	COWDEN DISEASE BANNAYAN-RILEY-RUVALCABA SYNDROME, INCLUDED
chr10	89682883	89682884	PTEN	ARG	TER	130	601728.0007	 MACROCEPHALY/AUTISM SYNDROME, INCLUDED
chr10	89682884	89682885	PTEN	ARG	GLN	130	601728.0017	COWDEN DISEASE
chr10	89682890	89682891	PTEN	GLY	VAL	132	601728.0041	PTEN HAMARTOMA TUMOR SYNDROME
chr10	89682964	89682965	PTEN	GLU	TER	157	601728.0003	LHERMITTE-DUCLOS DISEASE
chr10	89701869	89701872	PTEN	SER	ARG	170	601728.0004	BANNAYAN-RILEY-RUVALCABA SYNDROME
chr10	89701895	89701896	PTEN	TYR	TER	178	601728.0014	BANNAYAN-RILEY-RUVALCABA SYNDROME
chr10	89701994	89701995	PTEN	CYS	TER	211	601728.0024	MALIGNANT MELANOMA, SOMATIC
chr10	89707594	89707595	PTEN	GLN	TER	214	601728.0015	BANNAYAN-RILEY-RUVALCABA SYNDROME
chr10	89707603	89707604	PTEN	VAL	ILE	217	601728.0026	MALIGNANT MELANOMA, SOMATIC
chr10	89707651	89707652	PTEN	ARG	TER	233	601728.0002	COWDEN DISEASE BANNAYAN-RILEY-RUVALCABA SYNDROME, INCLUDED
chr10	89707655	89707656	PTEN	ARG	GLN	234	601728.0029	GLIOMA SUSCEPTIBILITY 2 MENINGIOMA, INCLUDED
chr10	89707676	89707677	PTEN	PHE	SER	241	601728.0039	MACROCEPHALY/AUTISM SYNDROME
chr10	89707709	89707710	PTEN	ASP	GLY	252	601728.0038	MACROCEPHALY/AUTISM SYNDROME
chr10	89707720	89707721	PTEN	GLU	TER	256	601728.0016	BANNAYAN-RILEY-RUVALCABA SYNDROME
chr10	89710831	89710832	PTEN	ARG	TER	335	601728.0021	BANNAYAN-RILEY-RUVALCABA SYNDROME COWDEN DISEASE, INCLUDED
chr10	89710831	89710832	PTEN	ARG	TER	335	601728.0021	 PROTEUS-LIKE SYNDROME, INCLUDED
chr10	90689278	90689279	ACTA2	ARG	HIS	258	102620.0002	AORTIC ANEURYSM, FAMILIAL THORACIC 6
chr10	90689279	90689280	ACTA2	ARG	CYS	258	102620.0003	AORTIC ANEURYSM, FAMILIAL THORACIC 6
chr10	90691530	90691531	ACTA2	ARG	CYS	149	102620.0001	AORTIC ANEURYSM, FAMILIAL THORACIC 6
chr10	91188635	91188636	SLC16A12	GLN	TER	215	611910.0001	CATARACT, JUVENILE, WITH MICROCORNEA AND RENAL GLUCOSURIA
chr10	95362556	95362557	PDE6C	ARG	TRP	29	600827.0001	CONE DYSTROPHY 4
chr10	95376413	95376414	PDE6C	TYR	ASN	323	600827.0002	CONE DYSTROPHY 4
chr10	95385336	95385337	PDE6C	MET	VAL	455	600827.0005	CONE DYSTROPHY 4
chr10	95508026	95508027	LGI1	CYS	ARG	46	604619.0004	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
chr10	95527297	95527298	LGI1	ILE	LYS	122	604619.0011	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
chr10	95527338	95527339	LGI1	ARG	TRP	136	604619.0010	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
chr10	95542953	95542954	LGI1	LEU	PRO	232	604619.0009	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
chr10	95546828	95546829	LGI1	PHE	CYS	318	604619.0007	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
chr10	95547023	95547024	LGI1	GLU	ALA	383	604619.0001	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
chr10	95882190	95882191	PLCE1	ARG	TER	493	608414.0002	NEPHROTIC SYNDROME, TYPE 3
chr10	96004002	96004003	PLCE1	ARG	TER	1116	608414.0003	NEPHROTIC SYNDROME, TYPE 3
chr10	96020293	96020294	PLCE1	SER	LEU	1484	608414.0007	NEPHROTIC SYNDROME, TYPE 3
chr10	96033586	96033587	PLCE1	GLN	TER	1616	608414.0005	NEPHROTIC SYNDROME, TYPE 3
chr10	96054329	96054330	PLCE1	GLN	TER	1854	608414.0006	NEPHROTIC SYNDROME, TYPE 3
chr10	96071788	96071789	PLCE1	GLN	TER	1854	608414.0006	NEPHROTIC SYNDROME, TYPE 3
chr10	96512452	96512453	CYP2C19	MET	VAL	1	124020.0004	MEPHENYTOIN, POOR METABOLISM OF
chr10	96530397	96530400	CYP2C19	TRP	TER	212	124020.0003	MEPHENYTOIN, POOR METABOLISM OF PROGUANIL, POOR METABOLISM OF, INCLUDED
chr10	96602484	96602485	CYP2C19	ARG	TRP	433	124020.0002	MEPHENYTOIN, POOR METABOLISM OF
chr10	96692036	96692037	CYP2C9	ARG	CYS	144	601130.0002	WARFARIN SENSITIVITY
chr10	96697665	96697666	CYP2C9	LEU	VAL	208	601130.0003	WARFARIN SENSITIVITY
chr10	96731042	96731043	CYP2C9	ILE	LEU	359	601130.0001	 GLIPIZIDE POOR METABOLIZER, INCLUDED
chr10	96731042	96731043	CYP2C9	ILE	LEU	359	601130.0001	 PHENYTOIN POOR METABOLIZER, INCLUDED
chr10	96731042	96731043	CYP2C9	ILE	LEU	359	601130.0001	TOLBUTAMIDE POOR METABOLIZER WARFARIN SENSITIVITY, INCLUDED
chr10	97356546	97356547	ALDH18A1	HIS	TYR	784	138250.0002	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITHOUT METABOLIC ABNORMALITIES
chr10	97356546	97356547	HK1	LEU	SER	529	142600.0002	HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA
chr10	97392790	97392791	ALDH18A1	ARG	GLN	84	138250.0001	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES
chr10	99499240	99499241	ZFYVE27	GLY	VAL	191	610243.0001	SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT
chr10	100167417	100167418	HPS1	GLU	TER	666	604982.0003	HERMANSKY-PUDLAK SYNDROME 1
chr10	100185019	100185020	HPS1	GLU	TER	133	604982.0005	HERMANSKY-PUDLAK SYNDROME 1
chr10	101473803	101473804	COX15	ARG	TRP	217	603646.0001	CARDIOMYOPATHY, HYPERTROPHIC, EARLY-ONSET FATAL LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY DEFICIENCY, INCLUDED
chr10	101568566	101568567	ABCC2	ARG	TRP	768	601107.0001	DUBIN-JOHNSON SYNDROME
chr10	101585871	101585872	ABCC2	ARG	HIS	1150	601107.0008	DUBIN-JOHNSON SYNDROME
chr10	101585939	101585940	ABCC2	ILE	PHE	1173	601107.0007	DUBIN-JOHNSON SYNDROME
chr10	101595527	101595528	ABCC2	GLN	ARG	1382	601107.0005	DUBIN-JOHNSON SYNDROME
chr10	101819503	101819504	CPN1	GLY	ASP	178	603103.0002	CARBOXYPEPTIDASE N DEFICIENCY
chr10	102499660	102499661	PAX2	ARG	THR	71	167409.0012	RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES
chr10	102738864	102738865	C10ORF2	ARG	GLN	303	606075.0013	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3
chr10	102738900	102738901	C10ORF2	TRP	LEU	315	606075.0005	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3
chr10	102738911	102738912	C10ORF2	LYS	GLU	319	606075.0010	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
chr10	102738957	102738958	C10ORF2	ARG	GLN	334	606075.0008	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
chr10	102739017	102739018	C10ORF2	ARG	PRO	354	606075.0006	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3
chr10	102739031	102739032	C10ORF2	ALA	THR	359	606075.0003	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3
chr10	102739062	102739063	C10ORF2	SER	TYR	369	606075.0009	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3
chr10	102739076	102739077	C10ORF2	ARG	TRP	374	606075.0014	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3
chr10	102739098	102739099	C10ORF2	LEU	PRO	381	606075.0007	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3
chr10	102739516	102739517	C10ORF2	THR	ILE	457	606075.0011	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
chr10	102739568	102739569	C10ORF2	TRP	CYS	474	606075.0004	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3
chr10	102739569	102739570	C10ORF2	ALA	PRO	475	606075.0002	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3
chr10	103520124	103520125	FGF8	THR	MET	229	600483.0006	HYPOGONADOTROPIC HYPOGONADISM
chr10	103521274	103521275	FGF8	ARG	GLY	127	600483.0005	KALLMANN SYNDROME 6 HYPOGONADOTROPIC HYPOGONADISM, INCLUDED
chr10	103524517	103524518	FGF8	LYS	GLU	100	600483.0004	HYPOGONADOTROPIC HYPOGONADISM
chr10	103524914	103524917	FGF8	PHE	LEU	40	600483.0003	HYPOGONADOTROPIC HYPOGONADISM
chr10	103524955	103524956	FGF8	PRO	LEU	26	600483.0002	KALLMANN SYNDROME 6
chr10	103525515	103525516	FGF8	HIS	ASN	14	600483.0001	HYPOGONADOTROPIC HYPOGONADISM
chr10	103981789	103981790	PITX3	SER	ASN	13	602669.0002	CATARACT, CONGENITAL
chr10	104253942	104253943	SUFU	PRO	LEU	15	607035.0001	MEDULLOBLASTOMA, SOMATIC
chr10	104580617	104580618	CYP17A1	PHE	SER	453	609300.0033	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
chr10	104580692	104580693	CYP17A1	PRO	LEU	428	609300.0026	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104580728	104580729	CYP17A1	ARG	HIS	416	609300.0031	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104581281	104581282	CYP17A1	TRP	ARG	406	609300.0024	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104582312	104582313	CYP17A1	ARG	CYS	362	609300.0023	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104582323	104582324	CYP17A1	ARG	GLN	358	609300.0013	17,20-@LYASE DEFICIENCY, ISOLATED
chr10	104582356	104582357	CYP17A1	ARG	HIS	347	609300.0012	17,20-@LYASE DEFICIENCY, ISOLATED
chr10	104582357	104582358	CYP17A1	ARG	CYS	347	609300.0021	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
chr10	104582372	104582373	CYP17A1	PRO	THR	342	609300.0007	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
chr10	104582411	104582412	CYP17A1	TYR	ASP	329	609300.0025	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104583820	104583821	CYP17A1	ARG	TER	239	609300.0006	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
chr10	104584596	104584597	CYP17A1	TYR	ASN	201	609300.0027	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
chr10	104585062	104585063	CYP17A1	ARG	GLN	125	609300.0030	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104585089	104585090	CYP17A1	ASP	VAL	116	609300.0020	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
chr10	104585096	104585097	CYP17A1	PHE	VAL	114	609300.0019	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104585120	104585121	CYP17A1	SER	PRO	106	609300.0004	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104586821	104586822	CYP17A1	ARG	GLN	96	609300.0029	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104586822	104586823	CYP17A1	ARG	TRP	96	609300.0009	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104586830	104586831	CYP17A1	PHE	CYS	93	609300.0018	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104587027	104587028	CYP17A1	TYR	TER	27	609300.0028	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	104587059	104587062	CYP17A1	TRP	TER	17	609300.0016	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
chr10	105783940	105783941	COL17A1	ARG	GLN	1303	113811.0006	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
chr10	105784458	105784459	COL17A1	ARG	TER	1226	113811.0001	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, INCLUDED
chr10	105788156	105788157	COL17A1	GLN	TER	1023	113811.0004	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
chr10	105791273	105791274	COL17A1	LEU	TER	855	113811.0012	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
chr10	105802819	105802820	COL17A1	GLY	ASP	633	113811.0013	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
chr10	105821809	105821810	COL17A1	ARG	TER	145	113811.0014	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
chr10	111978023	111978024	MXI1	ALA	VAL	54	600020.0004	NEUROFIBROSARCOMA
chr10	112029764	112029765	MXI1	GLU	ALA	152	600020.0003	PROSTATE CANCER
chr10	112562045	112562046	RBM20	ARG	GLN	634	613171.0002	CARDIOMYOPATHY, DILATED, 1DD
chr10	112562050	112562051	RBM20	ARG	SER	636	613171.0003	CARDIOMYOPATHY, DILATED, 1DD
chr10	112562051	112562052	RBM20	ARG	HIS	636	613171.0004	CARDIOMYOPATHY, DILATED, 1DD
chr10	112562053	112562054	RBM20	SER	GLY	637	613171.0005	CARDIOMYOPATHY, DILATED, 1DD
chr10	112562057	112562058	RBM20	PRO	LEU	638	613171.0001	CARDIOMYOPATHY, DILATED, 1DD
chr10	112714109	112714110	SHOC2	SER	GLY	2	602775.0001	NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
chr10	115338035	115338036	HABP2	GLY	GLU	534	603924.0001	FACTOR VII-ACTIVATING PROTEASE MARBURG I CAROTID STENOSIS, SUSCEPTIBILITY TO, INCLUDED
chr10	115338035	115338036	HABP2	GLY	GLU	534	603924.0001	 VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO, INCLUDED
chr10	115794025	115794026	ADRB1	SER	GLY	49	109630.0002	RESTING HEART RATE
chr10	121421874	121421875	BAG3	PRO	LEU	209	603883.0001	MYOPATHY, MYOFIBRILLAR, BAG3-RELATED
chr10	123237538	123237539	FGFR2	ALA	THR	648	176943.0035	LADD SYNDROME
chr10	123237559	123237560	FGFR2	LYS	GLU	526	176943.0034	CROUZON SYNDROME SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, INCLUDED
chr10	123237598	123237599	FGFR2	ALA	THR	628	176943.0037	LADD SYNDROME
chr10	123246204	123246205	FGFR2	GLU	ALA	565	176943.0033	PFEIFFER SYNDROME
chr10	123248094	123248095	FGFR2	LYS	GLU	526	176943.0034	CROUZON SYNDROME SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, INCLUDED
chr10	123253341	123253342	FGFR2	SER	CYS	347	176943.0009	CROUZON SYNDROME
chr10	123253349	123253350	FGFR2	ALA	ALA	344	176943.0006	CROUZON SYNDROME CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED
chr10	123253349	123253350	FGFR2	ALA	ALA	344	176943.0006	 SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY, INCLUDED
chr10	123253350	123253351	FGFR2	ALA	GLY	344	176943.0007	JACKSON-WEISS SYNDROME CROUZON SYNDROME, INCLUDED
chr10	123253363	123253364	FGFR2	THR	PRO	341	176943.0012	PFEIFFER SYNDROME
chr10	123253413	123253414	FGFR2	SER	CYS	351	176943.0024	PFEIFFER SYNDROME, TYPE III ANTLEY-BIXLER SYNDROME, INCLUDED
chr10	123253425	123253426	FGFR2	SER	CYS	347	176943.0009	CROUZON SYNDROME
chr10	123253429	123253430	FGFR2	SER	CYS	347	176943.0009	CROUZON SYNDROME
chr10	123253436	123253437	FGFR2	ALA	ALA	344	176943.0006	CROUZON SYNDROME CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED
chr10	123253436	123253437	FGFR2	ALA	ALA	344	176943.0006	 SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY, INCLUDED
chr10	123253437	123253438	FGFR2	ALA	GLY	344	176943.0007	JACKSON-WEISS SYNDROME CROUZON SYNDROME, INCLUDED
chr10	123253438	123253439	FGFR2	ALA	SER	315	176943.0028	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
chr10	123264622	123264623	FGFR2	THR	PRO	341	176943.0012	PFEIFFER SYNDROME
chr10	123264783	123264784	FGFR2	TYR	CYS	375	176943.0015	BEARE-STEVENSON CUTIS GYRATA SYNDROME ENDOMETRIAL CANCER, SOMATIC, INCLUDED
chr10	123264792	123264793	FGFR2	SER	CYS	372	176943.0016	BEARE-STEVENSON CUTIS GYRATA SYNDROME
chr10	123264792	123264793	FGFR2	SER	PHE	252	176943.0017	APERT SYNDROME
chr10	123264792	123264793	FGFR2	SER	PHE	252	176943.0018	PFEIFFER SYNDROME VARIANT
chr10	123266845	123266846	FGFR2	SER	CYS	354	176943.0005	CROUZON SYNDROME
chr10	123266854	123266855	FGFR2	SER	CYS	351	176943.0024	PFEIFFER SYNDROME, TYPE III ANTLEY-BIXLER SYNDROME, INCLUDED
chr10	123266866	123266867	FGFR2	SER	CYS	347	176943.0009	CROUZON SYNDROME
chr10	123266874	123266875	FGFR2	ALA	ALA	344	176943.0006	CROUZON SYNDROME CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED
chr10	123266874	123266875	FGFR2	ALA	ALA	344	176943.0006	 SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY, INCLUDED
chr10	123266875	123266876	FGFR2	ALA	GLY	344	176943.0007	JACKSON-WEISS SYNDROME CROUZON SYNDROME, INCLUDED
chr10	123266880	123266881	FGFR2	CYS	TRP	342	176943.0013	CROUZON SYNDROME
chr10	123266881	123266882	FGFR2	CYS	TYR	342	176943.0001	CROUZON SYNDROME PFEIFFER SYNDROME, INCLUDED
chr10	123266882	123266883	FGFR2	CYS	ARG	342	176943.0002	 ANTLEY-BIXLER SYNDROME, INCLUDED
chr10	123266882	123266883	FGFR2	CYS	ARG	342	176943.0002	CROUZON SYNDROME PFEIFFER SYNDROME, INCLUDED
chr10	123266882	123266883	FGFR2	CYS	ARG	342	176943.0002	 JACKSON-WEISS SYNDROME, INCLUDED
chr10	123266882	123266885	FGFR2	CYS	SER	342	176943.0003	 ANTLEY-BIXLER SYNDROME, INCLUDED
chr10	123266882	123266885	FGFR2	CYS	SER	342	176943.0003	CROUZON SYNDROME JACKSON-WEISS SYNDROME, INCLUDED
chr10	123266885	123266886	FGFR2	THR	PRO	341	176943.0012	PFEIFFER SYNDROME
chr10	123266888	123266889	FGFR2	TYR	HIS	340	176943.0004	CROUZON SYNDROME
chr10	123266923	123266924	FGFR2	TYR	CYS	328	176943.0008	CROUZON SYNDROME
chr10	123266944	123266945	FGFR2	ASP	ALA	321	176943.0039	PFEIFFER SYNDROME
chr10	123266963	123266964	FGFR2	ALA	SER	315	176943.0028	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
chr10	123269547	123269548	FGFR2	LYS	GLU	292	176943.0020	CROUZON SYNDROME
chr10	123269551	123269552	FGFR2	TRP	CYS	290	176943.0019	PFEIFFER SYNDROME
chr10	123269551	123269552	FGFR2	TRP	CYS	290	176943.0032	PFEIFFER SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED
chr10	123269553	123269554	FGFR2	TRP	ARG	290	176943.0021	CROUZON SYNDROME
chr10	123269553	123269554	FGFR2	TRP	GLY	290	176943.0022	CROUZON SYNDROME
chr10	123269555	123269556	FGFR2	GLN	PRO	289	176943.0014	CROUZON SYNDROME
chr10	123269622	123269623	FGFR2	SER	PRO	267	176943.0029	PFEIFFER SYNDROME GASTRIC CANCER, SOMATIC, INCLUDED
chr10	123269663	123269664	FGFR2	PRO	ARG	253	176943.0011	APERT SYNDROME
chr10	123269664	123269665	FGFR2	PRO	SER	253	176943.0018	PFEIFFER SYNDROME VARIANT
chr10	123269666	123269667	FGFR2	SER	TRP	252	176943.0010	APERT SYNDROME ENDOMETRIAL CANCER, SOMATIC, INCLUDED
chr10	124239108	124239109	HTRA1	ALA	THR	252	602194.0005	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr10	124256307	124256308	HTRA1	VAL	MET	297	602194.0004	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr10	124256322	124256323	HTRA1	ARG	TER	302	602194.0003	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr10	124258263	124258264	HTRA1	ARG	TER	370	602194.0002	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr10	126076509	126076510	OAT	LEU	PHE	437	258870.0013	OAT POLYMORPHISM
chr10	126076544	126076545	OAT	ARG	TER	426	258870.0034	GYRATE ATROPHY
chr10	126076570	126076571	OAT	PRO	LEU	417	258870.0012	GYRATE ATROPHY
chr10	126076615	126076616	OAT	LEU	PRO	402	258870.0011	GYRATE ATROPHY
chr10	126076619	126076620	OAT	GLY	TER	401	258870.0030	GYRATE ATROPHY
chr10	126076634	126076635	OAT	ARG	TER	396	258870.0004	GYRATE ATROPHY
chr10	126076640	126076641	OAT	CYS	ARG	394	258870.0029	GYRATE ATROPHY
chr10	126076649	126076652	OAT	TRP	TER	391	258870.0028	GYRATE ATROPHY
chr10	126079423	126079424	OAT	ASN	ASN	378	258870.0017	OAT POLYMORPHISM
chr10	126079433	126079434	OAT	GLY	ALA	375	258870.0014	GYRATE ATROPHY
chr10	126079499	126079500	OAT	GLY	ASP	353	258870.0027	GYRATE ATROPHY
chr10	126080304	126080305	OAT	VAL	MET	332	258870.0018	GYRATE ATROPHY WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
chr10	126080343	126080344	OAT	HIS	TYR	319	258870.0020	GYRATE ATROPHY
chr10	126081488	126081489	OAT	TYR	TER	299	258870.0033	GYRATE ATROPHY
chr10	126081562	126081565	OAT	TRP	TER	275	258870.0037	GYRATE ATROPHY
chr10	126081573	126081574	OAT	ARG	LYS	271	258870.0010	GYRATE ATROPHY
chr10	126082378	126082379	OAT	ARG	PRO	250	258870.0026	GYRATE ATROPHY
chr10	126082393	126082394	OAT	TYR	CYS	245	258870.0016	GYRATE ATROPHY
chr10	126082405	126082406	OAT	PRO	LEU	241	258870.0025	GYRATE ATROPHY
chr10	126082450	126082451	OAT	ALA	VAL	226	258870.0038	GYRATE ATROPHY WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
chr10	126084015	126084016	OAT	TYR	TER	209	258870.0032	GYRATE ATROPHY
chr10	126084103	126084104	OAT	ARG	THR	180	258870.0008	GYRATE ATROPHY
chr10	126084110	126084113	OAT	TRP	TER	178	258870.0036	GYRATE ATROPHY
chr10	126087159	126087160	OAT	ARG	LEU	154	258870.0007	GYRATE ATROPHY
chr10	126087306	126087307	OAT	MET	ILE	1	258870.0001	GYRATE ATROPHY
chr10	126087445	126087446	OAT	CYS	PHE	93	258870.0006	GYRATE ATROPHY
chr10	126087455	126087456	OAT	GLN	GLU	90	258870.0039	GYRATE ATROPHY
chr10	126090567	126090568	OAT	TYR	HIS	55	258870.0005	GYRATE ATROPHY
chr10	126090568	126090569	OAT	ASN	LYS	54	258870.0019	GYRATE ATROPHY
chr10	126090727	126090728	OAT	MET	ILE	1	258870.0001	GYRATE ATROPHY
chr10	127467481	127467482	UROS	PRO	GLN	248	606938.0020	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127467541	127467542	UROS	THR	MET	228	606938.0005	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127467551	127467552	UROS	GLY	SER	225	606938.0017	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127473536	127473537	UROS	GLY	ARG	188	606938.0010	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127473536	127473537	UROS	GLY	TRP	188	606938.0012	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127493592	127493593	UROS	VAL	PHE	82	606938.0009	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127493593	127493594	UROS	GLU	ASP	81	606938.0011	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127493619	127493620	UROS	CYS	ARG	73	606938.0001	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127493639	127493640	UROS	ALA	VAL	66	606938.0003	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127493652	127493653	UROS	THR	ALA	62	606938.0004	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127493678	127493679	UROS	PRO	LEU	53	606938.0002	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr10	127495048	127495049	UROS	LEU	PHE	4	606938.0006	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
chr11	523465	523466	HRAS	ALA	VAL	146	190020.0012	COSTELLO SYNDROME
chr11	523466	523467	HRAS	ALA	THR	146	190020.0008	COSTELLO SYNDROME
chr11	523552	523553	HRAS	LYS	ARG	117	190020.0006	COSTELLO SYNDROME
chr11	523868	523869	HRAS	GLU	LYS	63	190020.0009	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
chr11	523874	523875	HRAS	GLN	LYS	61	190020.0002	THYROID CARCINOMA, FOLLICULAR, SOMATIC
chr11	523882	523883	HRAS	THR	ILE	58	190020.0011	COSTELLO SYNDROME
chr11	524258	524259	HRAS	GLN	LYS	22	190020.0010	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
chr11	524284	524285	HRAS	GLY	ASP	13	190020.0005	COSTELLO SYNDROME
chr11	524285	524286	HRAS	GLY	CYS	13	190020.0007	COSTELLO SYNDROME
chr11	524287	524288	HRAS	GLY	VAL	12	190020.0001	BLADDER CANCER, SOMATIC COSTELLO SYNDROME, INCLUDED
chr11	524287	524288	HRAS	GLY	VAL	12	190020.0001	 MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED
chr11	524287	524288	HRAS	GLY	ALA	12	190020.0004	COSTELLO SYNDROME
chr11	524287	524288	HRAS	GLY	ASP	12	190020.0013	COSTELLO SYNDROME
chr11	524288	524289	HRAS	GLY	SER	12	190020.0003	COSTELLO SYNDROME MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED
chr11	524288	524289	HRAS	GLY	CYS	12	190020.0014	COSTELLO SYNDROME
chr11	629829	629830	DRD4	VAL	GLY	194	126452.0002	DOPAMINE RECEPTOR D4 POLYMORPHISM
chr11	782339	782340	SLC25A22	GLY	TRP	236	609302.0002	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
chr11	782428	782429	SLC25A22	PRO	LEU	206	609302.0001	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
chr11	812493	812494	PNPLA2	PRO	LEU	195	609059.0002	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY
chr11	813800	813801	PNPLA2	GLN	TER	289	609059.0004	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY
chr11	1731398	1731399	CTSD	TRP	CYS	383	116840.0002	CEROID LIPOFUSCINOSIS, NEURONAL, 10
chr11	1735148	1735149	CTSD	PHE	ILE	229	116840.0001	CEROID LIPOFUSCINOSIS, NEURONAL, 10
chr11	1819273	1819274	TNNI2	ARG	TER	156	191043.0002	ARTHROGRYPOSIS, DISTAL, TYPE 2B
chr11	1819328	1819329	TNNI2	ARG	GLN	174	191043.0001	ARTHROGRYPOSIS, DISTAL, TYPE 2B
chr11	1911542	1911543	TNNT3	ARG	HIS	63	600692.0001	ARTHROGRYPOSIS, DISTAL, TYPE 2B
chr11	2138704	2138707	INS	PHE	LEU	25	176730.0001	INSULIN CHICAGO
chr11	2142144	2142145	TH	THR	MET	494	191290.0005	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
chr11	2143532	2143533	TH	GLN	LYS	412	191290.0001	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
chr11	2144349	2144350	TH	CYS	PHE	359	191290.0011	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
chr11	2144498	2144499	TH	ARG	HIS	337	191290.0004	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
chr11	2144567	2144568	TH	THR	MET	314	191290.0007	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
chr11	2144800	2144801	TH	THR	PRO	276	191290.0006	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
chr11	2145701	2145702	TH	LEU	PRO	236	191290.0002	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
chr11	2145710	2145711	TH	ARG	HIS	233	191290.0003	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
chr11	2423253	2423254	KCNQ1	PRO	LEU	117	607542.0030	LONG QT SYNDROME 1
chr11	2505764	2505765	KCNQ1	SER	GLY	140	607542.0032	ATRIAL FIBRILLATION, FAMILIAL, 3
chr11	2548487	2548488	KCNQ1	ALA	PRO	178	607542.0002	LONG QT SYNDROME 1
chr11	2548520	2548521	KCNQ1	GLY	ARG	189	607542.0003	LONG QT SYNDROME 1
chr11	2548524	2548525	KCNQ1	ARG	GLN	190	607542.0004	LONG QT SYNDROME 1
chr11	2549862	2549863	KCNQ1	ARG	PRO	243	607542.0039	LONG QT SYNDROME 1/2, DIGENIC
chr11	2549894	2549895	KCNQ1	VAL	MET	254	607542.0005	LONG QT SYNDROME 1
chr11	2549894	2549895	KCNQ1	VAL	MET	254	607542.0035	LONG QT SYNDROME 1
chr11	2550675	2550676	KCNQ1	GLY	SER	269	607542.0033	LONG QT SYNDROME 1
chr11	2550676	2550677	KCNQ1	GLY	ASP	269	607542.0034	LONG QT SYNDROME 1
chr11	2550687	2550688	KCNQ1	LEU	PHE	273	607542.0006	LONG QT SYNDROME 1
chr11	2550768	2550769	KCNQ1	ALA	THR	300	607542.0017	LONG QT SYNDROME 1
chr11	2550784	2550785	KCNQ1	TRP	SER	305	607542.0016	JERVELL AND LANGE-NIELSEN SYNDROME 1
chr11	2550786	2550787	KCNQ1	GLY	ARG	306	607542.0007	LONG QT SYNDROME 1
chr11	2550789	2550790	KCNQ1	VAL	LEU	307	607542.0037	SHORT QT SYNDROME 2
chr11	2561253	2561254	KCNQ1	THR	ILE	312	607542.0008	LONG QT SYNDROME 1
chr11	2561258	2561259	KCNQ1	GLY	SER	314	607542.0012	LONG QT SYNDROME 1
chr11	2561264	2561265	KCNQ1	GLY	ARG	189	607542.0003	LONG QT SYNDROME 1
chr11	2561340	2561341	KCNQ1	ALA	GLU	341	607542.0009	LONG QT SYNDROME 1 LONG QT SYNDROME 1/2, DIGENIC, INCLUDED
chr11	2561340	2561341	KCNQ1	ALA	VAL	341	607542.0010	LONG QT SYNDROME 1
chr11	2563018	2563019	KCNQ1	GLY	GLU	345	607542.0011	LONG QT SYNDROME 1
chr11	2565495	2565496	KCNQ1	VAL	MET	417	607542.0035	LONG QT SYNDROME 1
chr11	2566582	2566583	KCNQ1	THR	ILE	312	607542.0008	LONG QT SYNDROME 1
chr11	2746686	2746687	KCNQ1	ARG	TER	518	607542.0020	LONG QT SYNDROME 1, RECESSIVE
chr11	2746707	2746708	KCNQ1	ALA	THR	525	607542.0021	LONG QT SYNDROME 1, RECESSIVE
chr11	2753837	2753838	KCNQ1	ARG	CYS	555	607542.0015	LONG QT SYNDROME 1
chr11	2755795	2755796	KCNQ1	ARG	CYS	583	607542.0031	LONG QT SYNDROME 1 LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
chr11	2755808	2755809	KCNQ1	THR	MET	587	607542.0027	JERVELL AND LANGE-NIELSEN SYNDROME 1
chr11	2755814	2755815	KCNQ1	GLY	ASP	589	607542.0029	LONG QT SYNDROME 1 JERVELL AND LANGE-NIELSEN SYNDROME 1, INCLUDED
chr11	2862555	2862556	CDKN1C	SER	TER	247	600856.0004	BECKWITH-WIEDEMANN SYNDROME
chr11	5203446	5203447	HBB	VAL	GLU	134	141900.0200	HEMOGLOBIN NORTH SHORE HEMOGLOBIN NORTH SHORE-CARACAS
chr11	5203446	5203447	HBB	VAL	ALA	134	141900.0498	HEMOGLOBIN YAOUNDE
chr11	5203446	5203447	HBB	VAL	ASP	34	141900.0516	HEMOGLOBIN SANTANDER
chr11	5203461	5203462	HBB	ALA	ASP	129	141900.0138	HEMOGLOBIN J (TAICHUNG)
chr11	5203461	5203462	HBB	ALA	ASP	129	141900.0141	HEMOGLOBIN K (CAMEROON)
chr11	5203461	5203462	HBB	ALA	GLU	129	141900.0141	HEMOGLOBIN K (CAMEROON)
chr11	5203461	5203462	HBB	ALA	VAL	129	141900.0154	HEMOGLOBIN LA DESIRADE
chr11	5203462	5203463	HBB	ALA	PRO	129	141900.0058	HEMOGLOBIN CRETE
chr11	5203497	5203498	HBB	HIS	ARG	117	141900.0213	HEMOGLOBIN P HEMOGLOBIN P (GALVESTON)
chr11	5203497	5203498	HBB	HIS	PRO	117	141900.0250	HEMOGLOBIN SAITAMA
chr11	5203498	5203499	HBB	HIS	TYR	117	141900.0494	HEMOGLOBIN TSUKUMI
chr11	5203530	5203531	HBB	LEU	PRO	106	141900.0265	HEMOGLOBIN SOUTHAMPTON HEMOGLOBIN CASPER
chr11	5203530	5203531	HBB	LEU	GLN	106	141900.0287	HEMOGLOBIN TUBINGEN
chr11	5203530	5203531	HBB	LEU	ARG	106	141900.0398	HEMOGLOBIN TERRE HAUTE BETA-PLUS-THALASSEMIA
chr11	5204500	5204501	HBB	LYS	THR	66	141900.0048	HEMOGLOBIN CHICO
chr11	5204501	5204502	HBB	LYS	GLU	66	141900.0116	HEMOGLOBIN I (TOULOUSE) HEMOGLOBIN TOULOUSE
chr11	5204572	5204573	HBB	PHE	SER	42	141900.0100	 HEINZ BODY HEMOLYTIC ANEMIA
chr11	5204572	5204573	HBB	PHE	SER	42	141900.0100	HEMOGLOBIN HAMMERSMITH HEMOGLOBIN CHIBA
chr11	5204573	5204576	HBB	PHE	LEU	42	141900.0160	HEMOGLOBIN LOUISVILLE HEMOGLOBIN BUCURESTI
chr11	5204573	5204574	HBB	PHE	VAL	42	141900.0257	HEMOGLOBIN SENDAGI HEMOGLOBIN WARSAW
chr11	5204597	5204598	HBB	VAL	MET	34	141900.0478	HEMOGLOBIN RIO CLARO
chr11	5204602	5204603	HBB	LEU	ARG	32	141900.0044	HEMOGLOBIN CASTILLA
chr11	5204602	5204603	HBB	LEU	PRO	32	141900.0218	 HEMOGLOBIN KOBE
chr11	5204602	5204603	HBB	LEU	PRO	32	141900.0218	HEMOGLOBIN PERTH HEMOGLOBIN ABRAHAM LINCOLN
chr11	5204602	5204603	HBB	VAL	PHE	34	141900.0222	HEMOGLOBIN PITIE-SALPETRIERE
chr11	5204602	5204603	HBB	LEU	GLN	32	141900.0444	HEMOGLOBIN MEDICINE LAKE
chr11	5204602	5204603	HBB	LEU	GLN	32	141900.0452	HEMOGLOBIN MEDICINE LAKE
chr11	5204603	5204604	HBB	LEU	VAL	32	141900.0420	HEMOGLOBIN MUSCAT
chr11	5204753	5204754	HBB	GLY	ASP	25	141900.0122	HEMOGLOBIN J (AUCKLAND)
chr11	5204754	5204755	HBB	GLY	ARG	25	141900.0089	HEMOGLOBIN G (TAIWAN-AMI)
chr11	5204807	5204808	HBB	GLU	GLY	7	141900.0086	HEMOGLOBIN G (SAN JOSE)
chr11	5204808	5204809	HBB	GLU	LYS	7	141900.0263	HEMOGLOBIN SIRIRAJ HEMOGLOBIN G (HONAN)
chr11	5204824	5204825	HBB	MET	ILE	1	141900.0430	BETA-ZERO-THALASSEMIA
chr11	5204825	5204826	HBB	MET	ARG	1	141900.0344	BETA-ZERO-THALASSEMIA
chr11	5204825	5204826	HBB	MET	THR	1	141900.0345	BETA-ZERO-THALASSEMIA BETA-THALASSEMIA, LERMONTOV TYPE
chr11	5211796	5211797	HBD	ARG	SER	105	142000.0042	HEMOGLOBIN A(2) CAPRI
chr11	5211846	5211847	HBD	LEU	VAL	89	142000.0041	HEMOGLOBIN A(2) LUCANIA
chr11	5211937	5211938	HBD	ASN	LYS	58	142000.0040	HEMOGLOBIN A(2) CAMPANIA
chr11	5212001	5212002	HBD	PRO	HIS	37	142000.0039	HEMOGLOBIN A(2) METAPONTO
chr11	5212165	5212166	HBD	GLY	ASP	25	142000.0017	HEMOGLOBIN A(2) YOKOSHIMA
chr11	5227250	5227251	HBG1	ASP	TYR	80	142200.0021	HEMOGLOBIN F (VICTORIA JUBILEE)
chr11	5227250	5227251	HBG1	ASP	ASN	80	142200.0024	HEMOGLOBIN F (YAMAGUCHI)
chr11	5227537	5227538	HBG1	GLY	ARG	25	142200.0022	HEMOGLOBIN F (XINJIANG)
chr11	5227593	5227594	HBG1	GLU	GLY	6	142200.0012	HEMOGLOBIN F (IZUMI)
chr11	5227593	5227594	HBG1	GLU	GLY	6	142200.0014	HEMOGLOBIN F (KOTOBUKI)
chr11	5227594	5227595	HBG1	GLU	GLN	6	142200.0017	HEMOGLOBIN F (PORDENONE)
chr11	5232174	5232175	HBG2	ASP	ASN	80	142250.0015	HEMOGLOBIN F (MARIETTA)
chr11	5232215	5232216	HBG2	LYS	ARG	66	142250.0022	HEMOGLOBIN F (SHANGHAI)
chr11	5232216	5232217	HBG2	LYS	GLN	66	142250.0031	HEMOGLOBIN F (BROOKLYN)
chr11	5232312	5232313	HBG2	VAL	ILE	34	142250.0023	HEMOGLOBIN F (TOKYO)
chr11	5232460	5232461	HBG2	GLY	GLU	25	142250.0037	HEMOGLOBIN F (COSENZA)
chr11	6369594	6369595	SMPD1	GLY	ARG	242	607608.0008	NIEMANN-PICK DISEASE, TYPE B
chr11	6369744	6369745	SMPD1	GLN	LYS	292	607608.0015	NIEMANN-PICK DISEASE, TYPE B NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED
chr11	6371077	6371078	SMPD1	ASN	SER	383	607608.0009	NIEMANN-PICK DISEASE, TYPE B
chr11	6371464	6371467	SMPD1	SER	ARG	436	607608.0004	NIEMANN-PICK DISEASE, TYPE B
chr11	6372093	6372094	SMPD1	ALA	GLU	482	607608.0016	NIEMANN-PICK DISEASE, TYPE A
chr11	6593062	6593063	TPP1	ARG	HIS	447	607998.0005	CEROID LIPOFUSCINOSIS, NEURONAL, 2
chr11	6593862	6593863	TPP1	CYS	TYR	365	607998.0002	CEROID LIPOFUSCINOSIS, NEURONAL, 2
chr11	6593863	6593864	TPP1	CYS	ARG	365	607998.0001	CEROID LIPOFUSCINOSIS, NEURONAL, 2
chr11	6594496	6594497	TPP1	ASN	SER	286	607998.0008	CEROID LIPOFUSCINOSIS, NEURONAL, 2
chr11	6594502	6594503	TPP1	GLY	VAL	284	607998.0007	CEROID LIPOFUSCINOSIS, NEURONAL, 2
chr11	6594846	6594847	TPP1	ARG	TER	208	607998.0003	CEROID LIPOFUSCINOSIS, NEURONAL, 2
chr11	6594852	6594853	TPP1	ARG	CYS	206	607998.0006	CEROID LIPOFUSCINOSIS, NEURONAL, 2
chr11	9810412	9810413	SBF2	ARG	TER	1196	607697.0003	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
chr11	9946604	9946605	SBF2	ARG	TER	487	607697.0004	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
chr11	10478367	10478368	AMPD3	ARG	CYS	573	102772.0001	ERYTHROCYTE AMP DEAMINASE DEFICIENCY
chr11	13470628	13470629	PTH	ARG	TER	83	168450.0004	HYPOPARATHYROIDISM, PRIMARY
chr11	13470911	13470912	PTH	SER	PRO	23	168450.0003	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr11	13470926	13470927	PTH	CYS	ARG	18	168450.0001	HYPOPARATHYROIDISM, FAMILIAL ISOLATED
chr11	14863968	14863969	CYP2R1	LEU	PRO	99	608713.0001	25-@HYDROXYVITAMIN D3 DEFICIENCY
chr11	17365312	17365313	KCNJ11	ARG	HIS	301	600937.0019	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
chr11	17365438	17365439	KCNJ11	HIS	ARG	259	600937.0013	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
chr11	17365453	17365454	KCNJ11	PRO	LEU	254	600937.0011	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
chr11	17365487	17365488	KCNJ11	GLY	ARG	156	600937.0020	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
chr11	17365612	17365613	KCNJ11	ARG	HIS	201	600937.0002	DIABETES MELLITUS, PERMANENT NEONATAL DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED
chr11	17365612	17365613	KCNJ11	ARG	HIS	201	600937.0002	 DIABETES MELLITUS, TRANSIENT NEONATAL, 3, INCLUDED
chr11	17365613	17365614	KCNJ11	ARG	CYS	201	600937.0004	DIABETES MELLITUS, PERMANENT NEONATAL DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED
chr11	17365704	17365705	KCNJ11	LYS	ASN	170	600937.0008	DIABETES MELLITUS, PERMANENT NEONATAL
chr11	17365705	17365706	KCNJ11	LYS	ARG	170	600937.0007	DIABETES MELLITUS, PERMANENT NEONATAL
chr11	17365715	17365716	KCNJ11	ILE	LEU	167	600937.0016	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
chr11	17365717	17365718	KCNJ11	CYS	PHE	166	600937.0015	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
chr11	17365748	17365749	KCNJ11	GLY	ARG	156	600937.0020	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
chr11	17365774	17365775	KCNJ11	LEU	PRO	147	600937.0001	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
chr11	17366038	17366039	KCNJ11	VAL	GLY	59	600937.0005	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
chr11	17366039	17366040	KCNJ11	VAL	MET	59	600937.0003	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES DIABETES MELLITUS, PERMANENT NEONATAL, INCLUDED
chr11	17366056	17366057	KCNJ11	GLY	ASP	53	600937.0021	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
chr11	17366057	17366058	KCNJ11	GLY	SER	53	600937.0017	DIABETES MELLITUS, TRANSIENT NEONATAL, 3
chr11	17366057	17366058	KCNJ11	GLY	ARG	53	600937.0018	DIABETES MELLITUS, TRANSIENT NEONATAL, 3
chr11	17366065	17366066	KCNJ11	ARG	PRO	50	600937.0006	DIABETES MELLITUS, PERMANENT NEONATAL
chr11	17366090	17366091	KCNJ11	CYS	ARG	42	600937.0012	DIABETES MELLITUS, TRANSIENT NEONATAL, 3 DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT, INCLUDED
chr11	17366178	17366179	KCNJ11	TYR	TER	12	600937.0009	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
chr11	17372417	17372418	ABCC8	GLU	LYS	1506	600509.0011	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1
chr11	17373769	17373770	ABCC8	ILE	VAL	1424	600509.0018	DIABETES MELLITUS, PERMANENT NEONATAL
chr11	17374037	17374038	ABCC8	ARG	CYS	1379	600509.0019	DIABETES MELLITUS, TRANSIENT NEONATAL, 2 DIABETES MELLITUS, NONINSULIN-DEPENDENT, INCLUDED
chr11	17405246	17405247	ABCC8	GLY	VAL	716	600509.0003	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1
chr11	17409009	17409010	ABCC8	LEU	VAL	582	600509.0020	DIABETES MELLITUS, TRANSIENT NEONATAL, 2 DIABETES MELLITUS, NONINSULIN-DEPENDENT, INCLUDED
chr11	17431273	17431274	ABCC8	GLU	LYS	382	600509.0022	DIABETES MELLITUS, PERMANENT NEONATAL
chr11	17439889	17439890	ABCC8	LEU	ARG	213	600509.0017	DIABETES MELLITUS, PERMANENT NEONATAL
chr11	17441579	17441580	ABCC8	VAL	ASP	187	600509.0013	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1
chr11	17448241	17448244	ABCC8	PHE	LEU	132	600509.0016	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
chr11	17453041	17453042	ABCC8	VAL	GLY	86	600509.0026	DIABETES MELLITUS, PERMANENT NEONATAL
chr11	17453083	17453084	ABCC8	ASN	SER	72	600509.0021	DIABETES MELLITUS, PERMANENT NEONATAL
chr11	17454765	17454766	ABCC8	PRO	LEU	45	600509.0024	DIABETES MELLITUS, PERMANENT NEONATAL
chr11	17505453	17505454	USH1C	VAL	ILE	130	605242.0010	USHER SYNDROME, TYPE IC
chr11	17511390	17511391	USH1C	ARG	TER	31	605242.0007	USHER SYNDROME, TYPE IC
chr11	19166333	19166334	CSRP3	LYS	ARG	69	600824.0005	CARDIOMYOPATHY, DILATED, 1M
chr11	19166367	19166368	CSRP3	CYS	GLY	58	600824.0002	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
chr11	19166375	19166376	CSRP3	GLU	GLY	55	600824.0004	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
chr11	19166403	19166406	CSRP3	SER	ARG	46	600824.0006	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
chr11	19166408	19166409	CSRP3	LEU	PRO	44	600824.0003	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
chr11	19166408	19166409	CSRP3	SER	ARG	54	600824.0004	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
chr11	19170561	19170562	CSRP3	TRP	ARG	4	600824.0001	CARDIOMYOPATHY, DILATED, 1M
chr11	20585704	20585705	SLC6A5	LEU	VAL	306	604159.0005	HYPEREKPLEXIA
chr11	20595876	20595877	SLC6A5	TYR	TER	377	604159.0001	HYPEREKPLEXIA
chr11	20595876	20595877	SLC6A5	VAL	PHE	432	604159.0002	HYPEREKPLEXIA
chr11	20604842	20604843	SLC6A5	THR	MET	425	604159.0007	HYPEREKPLEXIA
chr11	20606177	20606178	SLC6A5	TYR	CYS	491	604159.0003	HYPEREKPLEXIA
chr11	20608838	20608839	SLC6A5	ASN	SER	509	604159.0006	HYPEREKPLEXIA
chr11	22603605	22603606	FANCF	TYR	TER	109	603467.0005	FANCONI ANEMIA, COMPLEMENTATION GROUP F
chr11	22603916	22603917	FANCF	GLN	TER	6	603467.0003	FANCONI ANEMIA, COMPLEMENTATION GROUP F
chr11	27636491	27636492	BDNF	VAL	MET	66	113505.0002	 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2, INCLUDED
chr11	27636491	27636492	BDNF	VAL	MET	66	113505.0002	 BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO, INCLUDED
chr11	27636491	27636492	BDNF	VAL	MET	66	113505.0002	 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2, INCLUDED
chr11	27636491	27636492	BDNF	VAL	MET	66	113505.0002	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST, INCLUDED
chr11	27636491	27636492	BDNF	VAL	MET	66	113505.0002	 PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO, INCLUDED
chr11	27636578	27636579	BDNF	VAL	MET	66	113505.0002	 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2, INCLUDED
chr11	27636578	27636579	BDNF	VAL	MET	66	113505.0002	 BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO, INCLUDED
chr11	27636578	27636579	BDNF	VAL	MET	66	113505.0002	 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2, INCLUDED
chr11	27636578	27636579	BDNF	VAL	MET	66	113505.0002	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST, INCLUDED
chr11	27636578	27636579	BDNF	VAL	MET	66	113505.0002	 PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO, INCLUDED
chr11	27636682	27636683	BDNF	THR	ILE	2	113505.0001	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
chr11	30211760	30211761	FSHB	TYR	TER	76	136530.0003	FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED
chr11	31768058	31768059	PAX6	TER	LEU	423	607108.0016	ANIRIDIA
chr11	31768845	31768846	PAX6	THR	ALA	391	607108.0020	OPTIC NERVE APLASIA, BILATERAL
chr11	31768958	31768959	PAX6	SER	TER	353	607108.0006	CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
chr11	31771918	31771919	PAX6	PHE	SER	258	607108.0019	COLOBOMA OF OPTIC NERVE COLOBOMA, OCULAR, INCLUDED
chr11	31771922	31771925	PAX6	TRP	TER	257	607108.0025	ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY
chr11	31772202	31772203	PAX6	ARG	TER	240	607108.0009	ANIRIDIA
chr11	31772202	31772203	PAX6	ARG	CYS	125	607108.0012	FOVEAL HYPOPLASIA, ISOLATED
chr11	31772822	31772823	PAX6	GLN	TER	205	607108.0018	OPTIC NERVE HYPOPLASIA, BILATERAL
chr11	31772828	31772829	PAX6	ARG	TER	203	607108.0008	ANIRIDIA
chr11	31778960	31778961	PAX6	VAL	ASP	126	607108.0013	ECTOPIA PUPILLAE
chr11	31779686	31779689	PAX6	SER	ARG	119	607108.0023	ANIRIDIA
chr11	31779734	31779735	PAX6	ARG	TER	103	607108.0005	ANIRIDIA
chr11	31779839	31779840	PAX6	PRO	SER	68	607108.0017	MORNING GLORY DISC ANOMALY
chr11	31779850	31779851	PAX6	GLY	VAL	64	607108.0014	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
chr11	31780016	31780017	PAX6	VAL	ASP	54	607108.0015	 FOVEAL HYPOPLASIA, INCLUDED
chr11	31780016	31780017	PAX6	VAL	ASP	54	607108.0015	 FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES, INCLUDED
chr11	31780016	31780017	PAX6	VAL	ASP	54	607108.0015	PETERS ANOMALY CATARACT, AUTOSOMAL DOMINANT, INCLUDED
chr11	31780892	31780893	PAX6	ARG	GLY	26	607108.0004	PETERS ANOMALY ANIRIDIA, INCLUDED
chr11	34944862	34944863	PDHX	GLN	TER	248	608769.0008	PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
chr11	35154765	35154766	CD44	ARG	GLY	46	107269.0001	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM
chr11	36551896	36551897	RAG1	ALA	VAL	156	179615.0004	RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM
chr11	36552369	36552370	RAG1	ARG	TRP	314	179615.0018	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
chr11	36552412	36552413	RAG1	CYS	TYR	328	179615.0022	OMENN SYNDROME
chr11	36552615	36552616	RAG1	ARG	CYS	396	179615.0006	OMENN SYNDROME
chr11	36552616	36552617	RAG1	ARG	HIS	396	179615.0008	OMENN SYNDROME
chr11	36552715	36552716	RAG1	ASP	GLY	429	179615.0009	OMENN SYNDROME
chr11	36552948	36552949	RAG1	ARG	TRP	507	179615.0019	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
chr11	36553110	36553111	RAG1	ARG	CYS	561	179615.0010	OMENN SYNDROME SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, INCLUDED
chr11	36553111	36553112	RAG1	ARG	HIS	561	179615.0005	OMENN SYNDROME
chr11	36553593	36553594	RAG1	GLU	LYS	722	179615.0001	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
chr11	36553639	36553640	RAG1	ARG	HIS	737	179615.0011	OMENN SYNDROME
chr11	36553639	36553640	RAG1	ARG	HIS	737	179615.0019	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
chr11	36553749	36553750	RAG1	GLU	TER	774	179615.0002	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
chr11	36553755	36553756	RAG1	ARG	TRP	776	179615.0023	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
chr11	36553762	36553763	RAG1	ARG	GLN	778	179615.0020	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
chr11	36553950	36553951	RAG1	ARG	TRP	841	179615.0016	ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
chr11	36554164	36554165	RAG1	TYR	CYS	912	179615.0007	OMENN SYNDROME
chr11	36554243	36554244	RAG1	TYR	TER	938	179615.0003	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
chr11	36554352	36554353	RAG1	ARG	TRP	975	179615.0021	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
chr11	36554371	36554372	RAG1	GLN	PRO	981	179615.0017	ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
chr11	36570942	36570943	RAG2	GLY	ALA	451	179616.0010	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
chr11	36571440	36571441	RAG2	MET	ARG	285	179616.0004	OMENN SYNDROME
chr11	36571608	36571609	RAG2	ARG	GLN	229	179616.0002	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE OMENN SYNDROME, INCLUDED
chr11	36572011	36572012	RAG2	GLY	ARG	95	179616.0005	OMENN SYNDROME
chr11	36572064	36572065	RAG2	THR	ASN	77	179616.0009	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
chr11	36572171	36572172	RAG2	CYS	TRP	41	179616.0003	OMENN SYNDROME
chr11	36572179	36572180	RAG2	ARG	GLY	39	179616.0008	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE OMENN SYNDROME, INCLUDED
chr11	44086351	44086352	EXT2	GLN	TER	172	608210.0002	EXOSTOSES, MULTIPLE, TYPE II
chr11	44092349	44092350	EXT2	TYR	TER	222	608210.0005	EXOSTOSES, MULTIPLE, TYPE II
chr11	44092362	44092363	EXT2	ASP	ASN	227	608210.0004	EXOSTOSES, MULTIPLE, TYPE II
chr11	44102942	44102943	EXT2	GLN	TER	258	608210.0006	EXOSTOSES, MULTIPLE, TYPE II
chr11	44245710	44245711	ALX4	ARG	PRO	272	605420.0005	PARIETAL FORAMINA 2
chr11	44253514	44253515	ALX4	GLN	TER	246	605420.0002	PARIETAL FORAMINA 2
chr11	44253597	44253598	ALX4	ARG	GLN	218	605420.0003	PARIETAL FORAMINA 2
chr11	44253630	44253631	ALX4	SER	TER	207	605420.0006	PARIETAL FORAMINA 2
chr11	44287770	44287771	ALX4	GLN	TER	140	605420.0001	PARIETAL FORAMINA 2
chr11	45784366	45784367	SLC35C1	ARG	CYS	147	605881.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
chr11	45789289	45789290	SLC35C1	THR	ARG	308	605881.0002	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
chr11	45876285	45876286	MAPK8IP1	SER	ASN	59	604641.0001	DIABETES MELLITUS, NONINSULIN-DEPENDENT
chr11	45892745	45892746	PEX16	ARG	TER	176	603360.0001	ZELLWEGER SYNDROME, COMPLEMENTATION GROUP D ZELLWEGER SYNDROME, COMPLEMENTATION GROUP 9
chr11	46717191	46717192	F2	GLY	VAL	558	176930.0005	PROTHROMBIN QUICK II
chr11	47212910	47212911	DDB2	LYS	GLU	244	600811.0001	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM
chr11	47212998	47212999	DDB2	ARG	HIS	273	600811.0002	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM
chr11	47213434	47213435	DDB2	ASP	TYR	307	600811.0004	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM
chr11	47213452	47213453	DDB2	ARG	TER	313	600811.0003	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM
chr11	47329482	47329483	MYBPC3	THR	ALA	59	600958.0012	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4
chr11	47388441	47388442	SLC39A13	GLY	ASP	74	608735.0002	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE
chr11	47419802	47419803	RAPSN	LEU	PRO	283	601592.0007	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
chr11	47419843	47419844	RAPSN	TYR	TER	269	601592.0005	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
chr11	47420907	47420908	RAPSN	ALA	VAL	189	601592.0014	FETAL AKINESIA DEFORMATION SEQUENCE
chr11	47425980	47425981	RAPSN	ARG	CYS	164	601592.0009	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
chr11	47425986	47425987	RAPSN	GLU	LYS	162	601592.0011	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
chr11	47426054	47426055	RAPSN	PHE	SER	139	601592.0013	FETAL AKINESIA DEFORMATION SEQUENCE
chr11	47426206	47426207	RAPSN	ASN	LYS	88	601592.0001	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
chr11	47426959	47426960	RAPSN	VAL	MET	45	601592.0010	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
chr11	47427051	47427052	RAPSN	LEU	PRO	14	601592.0002	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
chr11	47560267	47560268	NDUFS3	THR	ILE	145	603846.0001	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
chr11	47560563	47560564	NDUFS3	ARG	TRP	199	603846.0002	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
chr11	48101763	48101764	PTPRJ	ARG	CYS	214	600925.0001	COLON CANCER, SOMATIC
chr11	48101950	48101951	PTPRJ	GLN	PRO	276	600925.0002	COLON CANCER, SOMATIC
chr11	59368046	59368047	GIF	SER	LEU	46	609342.0005	INTRINSIC FACTOR DEFICIENCY
chr11	59619679	59619680	MS4A2	GLU	GLY	237	147138.0001	ATOPIC ASTHMA, SUSCEPTIBILITY TO
chr11	60918012	60918013	TMEM216	ARG	LEU	12	613277.0001	JOUBERT SYNDROME 2
chr11	60961867	60961868	SDHAF2	GLY	ARG	78	613019.0001	PARAGANGLIOMAS 2
chr11	61475869	61475870	BEST1	THR	PRO	6	607854.0005	BEST MACULAR DYSTROPHY VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED
chr11	61475869	61475870	BEST1	THR	PRO	6	607854.0005	 BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL, INCLUDED
chr11	61475878	61475879	BEST1	VAL	MET	9	607854.0007	BEST MACULAR DYSTROPHY
chr11	61475940	61475941	BEST1	TYR	TER	29	607854.0014	BEST MACULAR DYSTROPHY
chr11	61475975	61475976	BEST1	LEU	PRO	41	607854.0018	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
chr11	61475993	61475994	BEST1	ARG	HIS	47	607854.0011	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
chr11	61479197	61479198	BEST1	THR	PRO	6	607854.0005	BEST MACULAR DYSTROPHY VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED
chr11	61479197	61479198	BEST1	THR	PRO	6	607854.0005	 BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL, INCLUDED
chr11	61479770	61479771	BEST1	TYR	HIS	85	607854.0002	BEST MACULAR DYSTROPHY
chr11	61479773	61479774	BEST1	VAL	MET	86	607854.0019	VITREORETINOCHOROIDOPATHY
chr11	61479796	61479797	BEST1	TRP	CYS	93	607854.0001	BEST MACULAR DYSTROPHY
chr11	61479872	61479873	BEST1	GLU	GLN	119	607854.0008	MACULOPATHY, BULL'S-EYE
chr11	61479872	61479873	BEST1	ALA	LYS	146	607854.0009	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
chr11	61479935	61479936	BEST1	LEU	VAL	140	607854.0025	RETINITIS PIGMENTOSA 50
chr11	61479939	61479940	BEST1	ARG	HIS	141	607854.0013	BEST MACULAR DYSTROPHY BESTROPHINOPATHY, AUTOSOMAL RECESSIVE, INCLUDED
chr11	61481007	61481008	BEST1	ARG	TER	200	607854.0015	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
chr11	61481023	61481024	BEST1	ILE	THR	205	607854.0022	RETINITIS PIGMENTOSA 50
chr11	61481476	61481477	BEST1	TYR	ASN	227	607854.0004	BEST MACULAR DYSTROPHY
chr11	61481477	61481478	BEST1	TYR	CYS	227	607854.0024	BEST MACULAR DYSTROPHY RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
chr11	61481479	61481480	BEST1	ASP	ASN	228	607854.0023	RETINITIS PIGMENTOSA 50 RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
chr11	61481501	61481502	BEST1	VAL	ALA	235	607854.0026	VITREORETINOCHOROIDOPATHY
chr11	61481504	61481505	BEST1	TYR	CYS	236	607854.0021	VITREORETINOCHOROIDOPATHY
chr11	61482193	61482194	BEST1	VAL	MET	239	607854.0020	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA
chr11	61482206	61482207	BEST1	ALA	VAL	243	607854.0010	BEST MACULAR DYSTROPHY VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED
chr11	61483573	61483574	BEST1	GLY	GLU	299	607854.0003	BEST MACULAR DYSTROPHY
chr11	61483939	61483940	BEST1	VAL	MET	317	607854.0017	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
chr11	62215179	62215180	BSCL2	ARG	TER	275	606158.0015	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
chr11	62216460	62216461	BSCL2	ALA	PRO	212	606158.0009	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
chr11	62216718	62216719	BSCL2	GLU	TER	189	606158.0016	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
chr11	62218641	62218642	BSCL2	ARG	TER	138	606158.0007	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
chr11	62226540	62226541	BSCL2	SER	LEU	90	606158.0014	SILVER SPASTIC PARAPLEGIA SYNDROME
chr11	62226546	62226547	BSCL2	ASN	SER	88	606158.0013	SILVER SPASTIC PARAPLEGIA SYNDROME SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V, INCLUDED
chr11	63731457	63731460	FERMT3	TRP	TER	16	607901.0003	LEUKOCYTE ADHESION DEFICIENCY, TYPE III
chr11	63735693	63735696	FERMT3	TRP	TER	229	607901.0005	LEUKOCYTE ADHESION DEFICIENCY, TYPE III
chr11	63744696	63744697	FERMT3	ARG	TER	509	607901.0001	LEUKOCYTE ADHESION DEFICIENCY, TYPE III
chr11	63744696	63744697	FERMT3	ARG	TER	513	607901.0006	LEUKOCYTE ADHESION DEFICIENCY, TYPE III
chr11	63747141	63747142	FERMT3	ARG	TER	573	607901.0004	LEUKOCYTE ADHESION DEFICIENCY, TYPE III
chr11	64115872	64115873	SLC22A12	ARG	HIS	90	607096.0005	HYPOURICEMIA, RENAL, 1
chr11	64117595	64117596	SLC22A12	THR	MET	217	607096.0002	HYPOURICEMIA, RENAL, 1
chr11	64117792	64117795	SLC22A12	TRP	TER	258	607096.0001	HYPOURICEMIA, RENAL, 1
chr11	64122626	64122627	SLC22A12	GLU	ASP	298	607096.0003	HYPOURICEMIA, RENAL, 1
chr11	64123734	64123735	SLC22A12	GLY	VAL	361	607096.0006	HYPOURICEMIA, RENAL, 1
chr11	64123905	64123906	SLC22A12	LEU	ARG	418	607096.0004	HYPOURICEMIA, RENAL, 1
chr11	64277978	64277979	PYGM	LEU	PRO	396	608455.0006	MCARDLE DISEASE
chr11	64283798	64283799	PYGM	ARG	TER	50	608455.0001	MCARDLE DISEASE
chr11	64328560	64328563	MEN1	THR	SER	552	131100.0022	ADRENAL ADENOMA, SOMATIC
chr11	64328635	64328636	MEN1	ARG	TER	527	131100.0012	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
chr11	64328836	64328837	MEN1	ARG	TER	460	131100.0016	PROLACTINOMA, HYPERPARATHYROIDISM, CARCINOID SYNDROME
chr11	64328836	64328837	MEN1	LYS	ILE	135	131100.0018	ANGIOFIBROMA, SOMATIC
chr11	64329125	64329126	MEN1	TRP	ARG	436	131100.0010	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
chr11	64329125	64329128	MEN1	TRP	TER	436	131100.0011	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
chr11	64329179	64329180	MEN1	ASP	ASN	418	131100.0027	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
chr11	64329792	64329793	MEN1	GLU	LYS	359	131100.0019	ANGIOFIBROMA, SOMATIC
chr11	64329805	64329806	MEN1	CYS	TER	354	131100.0029	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
chr11	64331604	64331605	MEN1	GLN	TER	260	131100.0014	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
chr11	64331619	64331620	MEN1	GLU	LYS	255	131100.0020	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY
chr11	64332000	64332003	MEN1	TRP	TER	198	131100.0006	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
chr11	64332041	64332042	MEN1	VAL	GLU	184	131100.0021	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY
chr11	64333742	64333743	MEN1	HIS	ASP	139	131100.0023	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
chr11	64334081	64334082	MEN1	GLU	LYS	26	131100.0013	PARATHYROID ADENOMA, SOMATIC
chr11	64334092	64334093	MEN1	LEU	ARG	22	131100.0001	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
chr11	65244131	65244132	RNASEH2C	LYS	ILE	143	610330.0002	AICARDI-GOUTIERES SYNDROME 3
chr11	65244431	65244432	RNASEH2C	ARG	TRP	69	610330.0001	AICARDI-GOUTIERES SYNDROME 3
chr11	65392568	65392569	EFEMP2	ARG	CYS	279	604633.0002	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
chr11	65395401	65395402	EFEMP2	GLU	LYS	57	604633.0001	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
chr11	66043771	66043772	BBS1	GLU	LYS	234	209901.0006	BARDET-BIEDL SYNDROME 7
chr11	66050227	66050228	BBS1	MET	ARG	390	209901.0001	BARDET-BIEDL SYNDROME 1
chr11	66055019	66055020	BBS1	LEU	PRO	518	209901.0005	BARDET-BIEDL SYNDROME 1
chr11	66055738	66055739	BBS1	GLU	TER	549	209901.0002	BARDET-BIEDL SYNDROME 1
chr11	66237691	66237692	SPTBN2	LEU	PRO	253	604985.0003	SPINOCEREBELLAR ATAXIA 5
chr11	66374964	66374965	PC	MET	ILE	743	608786.0002	PYRUVATE CARBOXYLASE DEFICIENCY
chr11	66375990	66375991	PC	ALA	THR	610	608786.0001	PYRUVATE CARBOXYLASE DEFICIENCY
chr11	66376562	66376563	PC	ARG	LEU	583	608786.0008	PYRUVATE CARBOXYLASE DEFICIENCY
chr11	66387837	66387838	PC	ARG	CYS	451	608786.0004	PYRUVATE CARBOXYLASE DEFICIENCY
chr11	66395381	66395382	PC	ARG	GLN	156	608786.0007	PYRUVATE CARBOXYLASE DEFICIENCY
chr11	66395414	66395415	PC	VAL	ALA	145	608786.0003	PYRUVATE CARBOXYLASE DEFICIENCY
chr11	66889270	66889271	CLCF1	ARG	LEU	197	607672.0002	COLD-INDUCED SWEATING SYNDROME 2
chr11	66889539	66889540	CLCF1	TYR	TER	107	607672.0001	COLD-INDUCED SWEATING SYNDROME 2
chr11	66980237	66980238	CABP4	ARG	CYS	124	608965.0002	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B
chr11	67007244	67007245	AIP	GLN	TER	14	605555.0001	PITUITARY ADENOMA, GROWTH HORMONE-SECRETING PITUITARY ADENOMA, PROLACTIN-SECRETING, INCLUDED
chr11	67007268	67007269	AIP	ARG	TER	22	605555.0009	PITUITARY ADENOMA, GROWTH HORMONE-SECRETING
chr11	67014850	67014851	AIP	TYR	TER	268	605555.0007	PITUITARY ADENOMA PREDISPOSITION
chr11	67014956	67014957	AIP	ARG	TER	304	605555.0003	PITUITARY ADENOMA, GROWTH HORMONE-SECRETING
chr11	67014957	67014958	AIP	ARG	GLN	304	605555.0008	PITUITARY ADENOMA, ACTH-SECRETING
chr11	67134556	67134557	NDUFV1	GLU	LYS	214	161015.0004	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr11	67135557	67135558	NDUFV1	ALA	VAL	341	161015.0003	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr11	67136271	67136272	NDUFV1	THR	MET	423	161015.0001	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr11	67557189	67557190	NDUFS8	PRO	LEU	79	602141.0001	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
chr11	67557207	67557208	NDUFS8	PRO	LEU	85	602141.0003	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
chr11	67557258	67557259	NDUFS8	ARG	HIS	102	602141.0002	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
chr11	67560335	67560336	NDUFS8	ARG	HIS	138	602141.0004	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
chr11	67571522	67571523	TCIRG1	GLY	ARG	405	604592.0005	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
chr11	67571714	67571715	TCIRG1	ARG	LEU	444	604592.0006	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
chr11	67571775	67571776	TCIRG1	CYS	TER	464	604592.0002	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
chr11	67573796	67573797	TCIRG1	ARG	LEU	444	604592.0006	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
chr11	67836785	67836788	LRP5	TRP	TER	10	603506.0001	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
chr11	67872231	67872232	LRP5	LEU	PHE	145	603506.0025	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT
chr11	67881715	67881716	LRP5	GLY	ARG	171	603506.0014	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
chr11	67881716	67881717	LRP5	GLY	VAL	171	603506.0013	HIGH BONE MASS
chr11	67881844	67881845	LRP5	ALA	THR	214	603506.0016	ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
chr11	67881845	67881846	LRP5	ALA	VAL	214	603506.0017	OSTEOSCLEROSIS, AUTOSOMAL DOMINANT
chr11	67887827	67887828	LRP5	ALA	THR	242	603506.0015	ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, INCLUDED
chr11	67887827	67887828	LRP5	ALA	THR	242	603506.0015	 VAN BUCHEM DISEASE, TYPE 2, INCLUDED
chr11	67887861	67887862	LRP5	THR	ILE	253	603506.0018	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
chr11	67910625	67910626	LRP5	ARG	TER	428	603506.0002	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
chr11	67910625	67910626	LRP5	ASP	TER	718	603506.0004	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
chr11	67910673	67910674	LRP5	ARG	CYS	444	603506.0026	EXUDATIVE VITREORETINOPATHY 4, DIGENIC
chr11	67913964	67913965	LRP5	GLU	TER	485	603506.0010	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
chr11	67913992	67913993	LRP5	ARG	GLN	494	603506.0007	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
chr11	67927649	67927650	LRP5	ARG	TRP	570	603506.0008	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
chr11	67927650	67927651	LRP5	ARG	GLN	570	603506.0022	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
chr11	67930593	67930594	LRP5	GLY	ARG	610	603506.0027	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
chr11	67930764	67930765	LRP5	VAL	MET	667	603506.0009	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
chr11	67934065	67934068	LRP5	TRP	TER	734	603506.0011	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
chr11	67934119	67934120	LRP5	ARG	GLY	752	603506.0023	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
chr11	67937785	67937786	LRP5	GLN	TER	853	603506.0005	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
chr11	67961030	67961031	LRP5	GLU	LYS	1367	603506.0024	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
chr11	68284281	68284282	CPT1A	GLY	GLU	710	600528.0011	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
chr11	68284284	68284285	CPT1A	GLY	GLU	709	600528.0009	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
chr11	68299441	68299442	CPT1A	TYR	CYS	498	600528.0005	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
chr11	68304780	68304781	CPT1A	ASP	GLY	454	600528.0001	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
chr11	68305925	68305926	CPT1A	ALA	VAL	414	600528.0004	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
chr11	68308942	68308943	CPT1A	GLU	GLY	360	600528.0002	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
chr11	68331665	68331666	CPT1A	GLN	TER	100	600528.0003	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY
chr11	68430146	68430147	IGHMBP2	GLN	TER	41	600502.0004	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1
chr11	68435573	68435574	IGHMBP2	HIS	ARG	213	600502.0002	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1
chr11	68435642	68435643	IGHMBP2	LEU	TER	236	600502.0006	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1
chr11	68453270	68453273	IGHMBP2	PHE	LEU	369	600502.0008	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1
chr11	68458509	68458510	IGHMBP2	GLU	LYS	514	600502.0001	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1
chr11	68459447	68459448	IGHMBP2	VAL	ILE	580	600502.0003	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1
chr11	68602974	68602975	TPCN2	MET	LEU	484	612163.0001	SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR
chr11	68611938	68611939	TPCN2	GLY	GLU	734	612163.0002	SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR
chr11	69334507	69334508	FGF3	SER	PRO	156	164950.0001	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
chr11	69340038	69340039	FGF3	ARG	TER	104	164950.0002	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
chr11	69342442	69342443	FGF3	GLY	CYS	66	164950.0004	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
chr11	69342621	69342622	FGF3	LEU	PRO	6	164950.0005	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
chr11	70824154	70824155	DHCR7	GLU	LYS	448	602858.0018	SMITH-LEMLI-OPITZ SYNDROME, MILD
chr11	70824286	70824287	DHCR7	ARG	CYS	404	602858.0014	SMITH-LEMLI-OPITZ SYNDROME
chr11	70824441	70824442	DHCR7	ARG	GLN	352	602858.0021	SMITH-LEMLI-OPITZ SYNDROME
chr11	70824442	70824443	DHCR7	ARG	TRP	352	602858.0013	SMITH-LEMLI-OPITZ SYNDROME
chr11	70824520	70824521	DHCR7	VAL	LEU	326	602858.0011	SMITH-LEMLI-OPITZ SYNDROME
chr11	70826602	70826603	DHCR7	THR	ILE	289	602858.0015	SMITH-LEMLI-OPITZ SYNDROME
chr11	70826618	70826621	DHCR7	PHE	LEU	284	602858.0019	SMITH-LEMLI-OPITZ SYNDROME, MILD
chr11	70826629	70826630	DHCR7	TYR	CYS	280	602858.0016	SMITH-LEMLI-OPITZ SYNDROME
chr11	70827659	70827660	DHCR7	TRP	CYS	248	602858.0008	SMITH-LEMLI-OPITZ SYNDROME
chr11	70827673	70827674	DHCR7	GLY	ARG	244	602858.0006	SMITH-LEMLI-OPITZ SYNDROME
chr11	70830095	70830098	DHCR7	TRP	TER	151	602858.0010	SMITH-LEMLI-OPITZ SYNDROME
chr11	70831012	70831013	DHCR7	HIS	LEU	119	602858.0005	SMITH-LEMLI-OPITZ SYNDROME
chr11	70832729	70832730	DHCR7	THR	MET	93	602858.0009	SMITH-LEMLI-OPITZ SYNDROME
chr11	70833645	70833646	DHCR7	MET	LEU	1	602858.0017	SMITH-LEMLI-OPITZ SYNDROME, MILD
chr11	70833645	70833646	DHCR7	MET	VAL	1	602858.0020	SMITH-LEMLI-OPITZ SYNDROME, MILD
chr11	71494787	71494788	LRTOMT	ARG	GLN	81	612414.0002	DEAFNESS, AUTOSOMAL RECESSIVE 63
chr11	71494858	71494859	LRTOMT	TRP	ARG	105	612414.0003	DEAFNESS, AUTOSOMAL RECESSIVE 63
chr11	71494873	71494874	LRTOMT	GLU	LYS	110	612414.0004	DEAFNESS, AUTOSOMAL RECESSIVE 63
chr11	71494878	71494879	LRTOMT	TYR	TER	71	612414.0005	DEAFNESS, AUTOSOMAL RECESSIVE 63
chr11	71584145	71584146	FOLR1	GLN	TER	118	136430.0001	NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
chr11	71584619	71584620	FOLR1	CYS	TER	175	136430.0002	NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
chr11	73394536	73394537	UCP3	ARG	TER	143	602044.0002	OBESITY, SEVERE, AND TYPE II DIABETES
chr11	73394894	73394895	UCP3	VAL	ILE	102	602044.0001	UCP3 POLYMORPHISM G/A OBESITY, SEVERE, AND TYPE II DIABETES
chr11	73394990	73394991	UCP3	ARG	TRP	70	602044.0004	OBESITY, SEVERE, AND TYPE II DIABETES
chr11	73845960	73845961	KCNE3	ARG	HIS	99	604433.0002	BRUGADA SYNDROME 6
chr11	73846008	73846009	KCNE3	ARG	HIS	83	604433.0001	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
chr11	76531476	76531477	MYO7A	CYS	TER	31	276903.0013	USHER SYNDROME, TYPE IB
chr11	76544762	76544763	MYO7A	ARG	TER	150	276903.0001	USHER SYNDROME, TYPE IB
chr11	76545596	76545597	MYO7A	ARG	CYS	212	276903.0005	USHER SYNDROME, TYPE IB
chr11	76545597	76545598	MYO7A	ARG	HIS	212	276903.0004	USHER SYNDROME, TYPE IB
chr11	76545662	76545663	MYO7A	GLN	TER	234	276903.0002	USHER SYNDROME, TYPE IB
chr11	76545693	76545694	MYO7A	ARG	PRO	244	276903.0007	DEAFNESS, AUTOSOMAL RECESSIVE 2
chr11	76547025	76547026	MYO7A	ARG	HIS	302	276903.0006	USHER SYNDROME, TYPE IB
chr11	76550842	76550843	MYO7A	ASN	ILE	458	276903.0015	DEAFNESS, AUTOSOMAL DOMINANT 11
chr11	76554855	76554856	MYO7A	MET	ILE	599	276903.0010	DEAFNESS, AUTOSOMAL RECESSIVE 2 USHER SYNDROME, TYPE IB, INCLUDED
chr11	76561527	76561528	MYO7A	CYS	TER	628	276903.0012	USHER SYNDROME, TYPE IB
chr11	76563509	76563510	MYO7A	ARG	TER	666	276903.0016	USHER SYNDROME, TYPE IB
chr11	76563509	76563510	RRAS2	LEU	GLN	72	600098.0001	OVARIAN CANCER, SOMATIC
chr11	76571267	76571268	MYO7A	LEU	PRO	1087	276903.0014	USHER SYNDROME, TYPE IB
chr11	77501417	77501418	ALG8	GLY	ASP	275	608103.0006	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
chr11	77516086	77516087	ALG8	THR	PRO	47	608103.0004	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
chr11	85042830	85042831	TMEM126A	ARG	TER	55	612988.0001	OPTIC ATROPHY 7
chr11	86340195	86340196	FZD4	ARG	GLN	417	604579.0003	EXUDATIVE VITREORETINOPATHY 1 EXUDATIVE VITREORETINOPATHY, DIGENIC, INCLUDED
chr11	86340421	86340422	FZD4	MET	VAL	342	604579.0004	EXUDATIVE VITREORETINOPATHY 1
chr11	86340440	86340441	FZD4	TRP	CYS	335	604579.0005	EXUDATIVE VITREORETINOPATHY 1
chr11	86340679	86340680	FZD4	ILE	VAL	256	604579.0006	RETINOPATHY OF PREMATURITY
chr11	87666926	87666927	CTSC	TRP	CYS	429	602365.0010	PAPILLON-LEFEVRE SYNDROME
chr11	87666978	87666979	CTSC	TYR	CYS	412	602365.0012	PERIODONTITIS, AGGRESSIVE, 1
chr11	87667173	87667174	CTSC	TYR	CYS	347	602365.0013	PERIODONTITIS, AGGRESSIVE, 1
chr11	87667173	87667174	TECTA	LEU	THR	1820	602574.0001	DEAFNESS, AUTOSOMAL DOMINANT 12
chr11	87667312	87667313	CTSC	GLY	SER	301	602365.0009	PAPILLON-LEFEVRE SYNDROME
chr11	87668980	87668981	CTSC	GLN	ARG	286	602365.0006	HAIM-MUNK SYNDROME
chr11	87668981	87668982	CTSC	GLN	TER	286	602365.0007	PAPILLON-LEFEVRE SYNDROME
chr11	87673347	87673348	CTSC	GLN	LEU	252	602365.0003	PAPILLON-LEFEVRE SYNDROME
chr11	87681991	87681992	CTSC	ARG	TER	210	602365.0001	PAPILLON-LEFEVRE SYNDROME
chr11	87685308	87685309	CTSC	HIS	PRO	127	602365.0011	PAPILLON-LEFEVRE SYNDROME
chr11	87710372	87710373	CTSC	TRP	SER	39	602365.0008	PAPILLON-LEFEVRE SYNDROME
chr11	88550769	88550770	TYR	MET	VAL	1	606933.0037	ALBINISM, OCULOCUTANEOUS, TYPE IB
chr11	88550829	88550830	TYR	PRO	SER	21	606933.0023	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88550893	88550894	TYR	ASP	GLY	42	606933.0019	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88550908	88550909	TYR	GLY	ASP	47	606933.0024	ALBINISM, OCULOCUTANEOUS, TYPE IA ALBINISM, OCULOCUTANEOUS, TYPE IB, INCLUDED
chr11	88550932	88550933	TYR	CYS	TYR	55	606933.0020	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88550998	88550999	TYR	ARG	GLN	77	606933.0005	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88551010	88551011	TYR	PRO	LEU	81	606933.0002	ALBINISM, OCULOCUTANEOUS, TYPE IA ALBINISM, OCULOCUTANEOUS, TYPE IB, INCLUDED
chr11	88551033	88551034	TYR	CYS	ARG	89	606933.0011	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88551300	88551303	TYR	TRP	TER	178	606933.0014	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88551300	88551303	TYR	GLY	ASP	191	606933.0015	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88551343	88551344	TYR	SER	TYR	192	606933.0008	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING, INCLUDED
chr11	88551384	88551385	TYR	ALA	THR	206	606933.0021	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88551414	88551415	TYR	LEU	MET	216	606933.0036	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88551417	88551418	TYR	ARG	TRP	217	606933.0025	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88551474	88551477	TYR	TRP	TER	236	606933.0035	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88564020	88564021	TYR	VAL	PHE	275	606933.0007	ALBINISM, OCULOCUTANEOUS, TYPE IB
chr11	88564093	88564094	TYR	ARG	HIS	299	606933.0026	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88600713	88600714	TYR	ASN	THR	371	606933.0028	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88600747	88600748	TYR	ASN	LYS	382	606933.0016	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88600747	88600748	TYR	MET	ASN	96	606933.0018	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88657608	88657609	TYR	ARG	GLN	402	606933.0009	ALBINISM, OCULOCUTANEOUS, TYPE IB WAARDENBURG SYNDROME AND OCULAR ALBINISM, DIGENIC, INCLUDED
chr11	88657608	88657609	TYR	ARG	GLN	402	606933.0009	 ALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE, INCLUDED
chr11	88657608	88657609	TYR	ARG	GLN	402	606933.0009	 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8, INCLUDED
chr11	88657612	88657613	TYR	ARG	SER	403	606933.0030	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88657620	88657621	TYR	PRO	LEU	406	606933.0006	ALBINISM, OCULOCUTANEOUS, TYPE IB
chr11	88657658	88657659	TYR	GLY	ARG	419	606933.0022	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88657668	88657669	TYR	ARG	GLN	422	606933.0012	ALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE
chr11	88657739	88657740	TYR	GLY	SER	446	606933.0031	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	88657745	88657746	TYR	ASP	ASN	448	606933.0032	ALBINISM, OCULOCUTANEOUS, TYPE IA
chr11	93810019	93810020	MRE11A	ARG	TER	633	600814.0001	ATAXIA-TELANGIECTASIA-LIKE DISORDER
chr11	93832279	93832280	MRE11A	THR	LYS	481	600814.0004	ATAXIA-TELANGIECTASIA-LIKE DISORDER
chr11	93849131	93849132	MRE11A	TRP	CYS	210	600814.0005	ATAXIA-TELANGIECTASIA-LIKE DISORDER
chr11	93852539	93852540	MRE11A	ASN	SER	117	600814.0002	ATAXIA-TELANGIECTASIA-LIKE DISORDER
chr11	95214463	95214464	MTMR2	GLN	TER	482	603557.0004	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
chr11	95217874	95217875	MTMR2	GLN	TER	426	603557.0001	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
chr11	95222652	95222653	MTMR2	GLU	TER	276	603557.0003	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
chr11	100829002	100829003	TRPC6	GLU	LYS	897	603652.0006	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
chr11	100829008	100829009	TRPC6	ARG	CYS	895	603652.0005	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
chr11	100829614	100829615	TRPC6	LYS	TER	874	603652.0004	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
chr11	100880101	100880102	TRPC6	SER	THR	270	603652.0003	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
chr11	100880481	100880482	TRPC6	ASN	SER	143	603652.0002	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
chr11	100880574	100880575	TRPC6	PRO	GLN	112	603652.0001	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
chr11	102501135	102501136	DYNC2H1	ARG	CYS	587	603297.0007	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
chr11	102531414	102531415	DYNC2H1	ILE	THR	1240	603297.0005	ASPHYXIATING THORACIC DYSTROPHY 3
chr11	102539084	102539085	DYNC2H1	GLN	ARG	1537	603297.0012	SHORT RIB-POLYDACTYLY, TYPE III
chr11	102553578	102553579	DYNC2H1	THR	ALA	1987	603297.0014	SHORT RIB-POLYDACTYLY, TYPE III
chr11	102553590	102553591	DYNC2H1	MET	LEU	1991	603297.0001	ASPHYXIATING THORACIC DYSTROPHY 3
chr11	102560970	102560971	DYNC2H1	ARG	HIS	2205	603297.0008	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
chr11	102565699	102565700	DYNC2H1	GLY	VAL	2461	603297.0013	SHORT RIB-POLYDACTYLY, TYPE III
chr11	102585871	102585872	DYNC2H1	ARG	TER	2838	603297.0009	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
chr11	102596658	102596659	DYNC2H1	ASP	GLY	3015	603297.0004	ASPHYXIATING THORACIC DYSTROPHY 3
chr11	102621312	102621313	DYNC2H1	GLY	TER	3355	603297.0006	ASPHYXIATING THORACIC DYSTROPHY 3
chr11	102680539	102680540	DYNC2H1	MET	VAL	3762	603297.0002	ASPHYXIATING THORACIC DYSTROPHY 3
chr11	107497544	107497545	ACAT1	MET	LYS	1	607809.0007	3-@KETOTHIOLASE DEFICIENCY
chr11	107510196	107510197	ACAT1	ASN	SER	93	607809.0012	3-@KETOTHIOLASE DEFICIENCY
chr11	107511176	107511177	ACAT1	GLN	GLU	145	607809.0015	3-@KETOTHIOLASE DEFICIENCY
chr11	107517624	107517625	ACAT1	GLN	TER	272	607809.0009	3-@KETOTHIOLASE DEFICIENCY
chr11	107518481	107518482	ACAT1	ILE	THR	312	607809.0013	3-@KETOTHIOLASE DEFICIENCY
chr11	107519975	107519976	ACAT1	ALA	PRO	333	607809.0014	3-@KETOTHIOLASE DEFICIENCY
chr11	107522268	107522269	ACAT1	GLY	VAL	379	607809.0008	3-@KETOTHIOLASE DEFICIENCY
chr11	107603742	107603743	ATM	ARG	TER	35	607585.0008	ATAXIA-TELANGIECTASIA
chr11	107603785	107603786	ATM	SER	CYS	49	607585.0032	BREAST CANCER, SUSCEPTIBILITY TO
chr11	107603785	107603786	SMPD1	ARG	LEU	496	607608.0001	NIEMANN-PICK DISEASE, TYPE A
chr11	107648508	107648509	ATM	MET	VAL	1040	607585.0010	B-CELL NON-HODGKIN LYMPHOMA, SOMATIC
chr11	107663623	107663624	ATM	GLN	TER	1361	607585.0024	MANTLE CELL LYMPHOMA, SOMATIC
chr11	107675688	107675689	ATM	ASP	HIS	1682	607585.0009	T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC
chr11	107677715	107677716	ATM	SER	TER	1770	607585.0025	T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC
chr11	107705135	107705136	ATM	GLU	GLY	2423	607585.0022	MANTLE CELL LYMPHOMA
chr11	107705138	107705139	ATM	VAL	GLY	2424	607585.0005	ATAXIA-TELANGIECTASIA VARIANT T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC, INCLUDED
chr11	107705138	107705139	ATM	VAL	GLY	2424	607585.0005	 BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
chr11	107706169	107706170	ATM	ARG	TER	2443	607585.0019	ATAXIA-TELANGIECTASIA
chr11	107708784	107708785	ATM	ASP	GLU	2625	607585.0013	ATAXIA-TELANGIECTASIA
chr11	107708785	107708786	ATM	ALA	PRO	2626	607585.0013	ATAXIA-TELANGIECTASIA
chr11	107709861	107709862	ATM	LEU	PRO	2656	607585.0011	ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
chr11	107710924	107710925	ATM	TYR	CYS	2677	607585.0028	ATAXIA-TELANGIECTASIA VARIANT
chr11	107710924	107710925	ATM	TYR	CYS	2677	607585.0029	ATAXIA-TELANGIECTASIA VARIANT
chr11	107721740	107721741	ATM	PHE	CYS	2827	607585.0006	ATAXIA-TELANGIECTASIA VARIANT
chr11	107741412	107741413	ATM	ARG	TER	3047	607585.0012	ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
chr11	109607823	109607824	RDX	ASP	ASN	578	179410.0001	DEAFNESS, AUTOSOMAL RECESSIVE, 24
chr11	109639898	109639899	RDX	GLN	TER	155	179410.0003	DEAFNESS, AUTOSOMAL RECESSIVE, 24
chr11	111140775	111140776	PPP2R1B	GLY	ASP	90	603113.0001	LUNG CANCER
chr11	111284774	111284775	CRYAB	GLN	TER	151	123590.0004	ALPHA-B CRYSTALLINOPATHY
chr11	111284867	111284868	CRYAB	ARG	GLY	120	123590.0001	ALPHA-B CRYSTALLINOPATHY WITH CATARACT
chr11	111437019	111437022	DLAT	PHE	LEU	576	608770.0002	PYRUVATE DEHYDROGENASE E2 DEFICIENCY
chr11	111462841	111462842	SDHD	MET	VAL	1	602690.0021	PARAGANGLIOMA, CAROTID BODY, SOMATIC
chr11	111462843	111462844	SDHD	MET	ILE	1	602690.0015	PARAGANGLIOMAS 1
chr11	111462853	111462856	SDHD	TRP	TER	5	602690.0026	PHEOCHROMOCYTOMA
chr11	111462873	111462874	SDHD	CYS	TER	11	602690.0025	PHEOCHROMOCYTOMA
chr11	111462874	111462875	SDHD	GLY	SER	12	602690.0011	 CARCINOID TUMORS, INTESTINAL, INCLUDED
chr11	111462874	111462875	SDHD	GLY	SER	12	602690.0011	COWDEN-LIKE SYNDROME PARAGANGLIOMAS 1, INCLUDED
chr11	111462874	111462875	SDHD	GLY	SER	12	602690.0011	 PHEOCHROMOCYTOMA, INCLUDED
chr11	111463801	111463802	SDHD	ARG	TER	22	602690.0012	PARAGANGLIOMAS 1
chr11	111463832	111463833	SDHD	SER	TER	32	602690.0008	PARAGANGLIOMAS 1
chr11	111463843	111463844	SDHD	GLN	TER	36	602690.0001	PARAGANGLIOMAS 1
chr11	111463849	111463850	SDHD	ARG	TER	38	602690.0002	PARAGANGLIOMAS 1 PHEOCHROMOCYTOMA, INCLUDED
chr11	111463864	111463867	SDHD	TRP	TER	43	602690.0023	PARAGANGLIOMAS 1
chr11	111463886	111463887	SDHD	HIS	ARG	50	602690.0019	CARCINOID TUMORS, INTESTINAL PHEOCHROMOCYTOMA, INCLUDED, MERKEL CELL CARCINOMA, SOMATIC, INCLUDED, COWDEN-LIKE SYNDROME, INCLUDED
chr11	111464872	111464873	SDHD	PRO	LEU	81	602690.0003	PARAGANGLIOMAS 1 PHEOCHROMOCYTOMA, SOMATIC, INCLUDED
chr11	111464872	111464873	SDHD	PRO	LEU	81	602690.0003	 PARAGANGLIOMAS, FAMILIAL, WITH SENSORINEURAL HEARING LOSS, INCLUDED
chr11	111464904	111464905	SDHD	ASP	TYR	92	602690.0004	PARAGANGLIOMAS 1 PHEOCHROMOCYTOMA, INCLUDED
chr11	111464935	111464936	SDHD	HIS	LEU	102	602690.0005	PARAGANGLIOMAS 1
chr11	111470764	111470765	SDHD	TYR	CYS	114	602690.0007	PARAGANGLIOMAS 1
chr11	111470839	111470840	SDHD	LEU	PRO	139	602690.0016	PARAGANGLIOMAS 1
chr11	111470856	111470857	SDHD	HIS	ASN	145	602690.0028	COWDEN-LIKE SYNDROME
chr11	111602421	111602422	PTS	ARG	CYS	16	612719.0002	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
chr11	111602449	111602450	PTS	ARG	GLN	25	612719.0001	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
chr11	111604581	111604582	PTS	ASN	ASP	47	612719.0007	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
chr11	111604597	111604598	PTS	ASN	SER	52	612719.0004	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
chr11	111606142	111606143	PTS	VAL	MET	56	612719.0006	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
chr11	111609110	111609111	PTS	PRO	SER	87	612719.0005	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
chr11	111609137	111609138	PTS	ASP	ASN	96	612719.0009	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
chr11	111609396	111609397	PTS	ASP	GLY	116	612719.0008	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
chr11	112776037	112776038	ANKK1	GLU	LYS	713	608774.0001	DOPAMINE RECEPTOR D2, REDUCED BRAIN DENSITY OF
chr11	112792866	112792867	DRD2	VAL	ILE	154	126450.0001	MYOCLONUS-DYSTONIA SYNDROME
chr11	113626313	113626314	ZBTB16	MET	VAL	617	176797.0001	SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
chr11	116166601	116166602	APOA5	GLY	CYS	185	606368.0001	HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
chr11	116166739	116166740	APOA5	GLN	TER	139	606368.0003	HYPERLIPOPROTEINEMIA, TYPE V
chr11	116167616	116167617	APOA5	SER	TRP	19	606368.0002	HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
chr11	116206562	116206563	APOC3	ARG	TER	19	107720.0003	APOLIPOPROTEIN C-III DEFICIENCY
chr11	116212019	116212020	APOA1	ARG	PRO	173	107680.0025	AMYLOIDOSIS, CARDIAC AND CUTANEOUS
chr11	116212020	116212021	APOA1	ARG	CYS	173	107680.0001	APOLIPOPROTEIN A-I (MILANO)
chr11	117198348	117198349	FXYD2	GLY	ARG	41	601814.0001	HYPOMAGNESEMIA 2, RENAL
chr11	117365428	117365429	IL10RA	THR	ILE	84	146933.0002	INFLAMMATORY BOWEL DISEASE 28
chr11	117369218	117369219	IL10RA	GLY	ARG	141	146933.0001	INFLAMMATORY BOWEL DISEASE 28
chr11	117517189	117517190	SCN4B	LEU	PHE	179	608256.0001	LONG QT SYNDROME 10
chr11	117688613	117688616	CD3E	TRP	TER	59	186830.0002	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON
chr11	117715826	117715827	CD3D	CYS	TER	93	186790.0002	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
chr11	117716371	117716372	CD3D	ARG	TER	68	186790.0001	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
chr11	117720348	117720349	CD3G	MET	VAL	1	186740.0001	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA
chr11	118404142	118404143	SLC37A4	TRP	ARG	118	602671.0003	GLYCOGEN STORAGE DISEASE Ib
chr11	118404208	118404211	SLC37A4	TRP	TER	96	602671.0008	GLYCOGEN STORAGE DISEASE Ic
chr11	118405206	118405207	SLC37A4	ARG	HIS	28	602671.0013	GLYCOGEN STORAGE DISEASE Ib
chr11	118460953	118460954	HMBS	MET	VAL	1	609806.0044	PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT
chr11	118464192	118464193	HMBS	MET	VAL	1	609806.0044	PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT
chr11	118464217	118464218	HMBS	ARG	HIS	26	609806.0015	PORPHYRIA, ACUTE INTERMITTENT
chr11	118464557	118464558	HMBS	ALA	THR	31	609806.0016	PORPHYRIA, ACUTE INTERMITTENT
chr11	118464566	118464567	HMBS	GLN	LYS	34	609806.0017	PORPHYRIA, ACUTE INTERMITTENT
chr11	118465003	118465004	HMBS	ALA	SER	55	609806.0018	PORPHYRIA, ACUTE INTERMITTENT
chr11	118465167	118465168	HMBS	LEU	PRO	81	609806.0045	PORPHYRIA, ACUTE INTERMITTENT
chr11	118465666	118465667	HMBS	GLY	ARG	111	609806.0023	PORPHYRIA, ACUTE INTERMITTENT
chr11	118465910	118465911	HMBS	ARG	TRP	116	609806.0004	PORPHYRIA, ACUTE INTERMITTENT
chr11	118466131	118466132	HMBS	ARG	TER	149	609806.0046	PORPHYRIA, ACUTE INTERMITTENT
chr11	118466132	118466133	HMBS	ARG	GLN	149	609806.0008	PORPHYRIA, ACUTE INTERMITTENT
chr11	118466149	118466150	HMBS	GLN	TER	155	609806.0007	PORPHYRIA, ACUTE INTERMITTENT
chr11	118467332	118467333	HMBS	ARG	TRP	167	609806.0013	PORPHYRIA, ACUTE INTERMITTENT
chr11	118467333	118467334	HMBS	ARG	GLN	167	609806.0005	PORPHYRIA, ACUTE INTERMITTENT
chr11	118467333	118467334	HMBS	ARG	LEU	167	609806.0014	PORPHYRIA, ACUTE INTERMITTENT
chr11	118467351	118467352	HMBS	ARG	GLN	173	609806.0006	PORPHYRIA, ACUTE INTERMITTENT
chr11	118467363	118467364	HMBS	LEU	ARG	177	609806.0025	PORPHYRIA, ACUTE INTERMITTENT
chr11	118467425	118467428	HMBS	TRP	TER	198	609806.0012	PORPHYRIA, ACUTE INTERMITTENT
chr11	118467434	118467435	HMBS	ARG	TRP	201	609806.0026	PORPHYRIA, ACUTE INTERMITTENT
chr11	118468078	118468079	HMBS	GLY	ASP	216	609806.0038	PORPHYRIA, ACUTE INTERMITTENT
chr11	118468338	118468339	HMBS	GLU	LYS	223	609806.0027	PORPHYRIA, ACUTE INTERMITTENT
chr11	118468405	118468406	HMBS	LEU	ARG	245	609806.0009	PORPHYRIA, ACUTE INTERMITTENT
chr11	118468410	118468411	HMBS	CYS	ARG	247	609806.0029	PORPHYRIA, ACUTE INTERMITTENT
chr11	118468419	118468420	HMBS	GLU	LYS	250	609806.0031	PORPHYRIA, ACUTE INTERMITTENT
chr11	118468425	118468426	HMBS	ALA	THR	252	609806.0032	PORPHYRIA, ACUTE INTERMITTENT
chr11	118468426	118468427	HMBS	ALA	VAL	252	609806.0033	PORPHYRIA, ACUTE INTERMITTENT
chr11	118468437	118468438	HMBS	HIS	ASN	256	609806.0034	PORPHYRIA, ACUTE INTERMITTENT
chr11	118468875	118468878	HMBS	TRP	TER	283	609806.0043	PORPHYRIA, ACUTE INTERMITTENT
chr11	118476315	118476316	DPAGT1	TYR	CYS	170	191350.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
chr11	118715495	118715498	C1QTNF5	SER	ARG	163	608752.0001	RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
chr11	118721435	118721436	MFRP	ILE	THR	182	606227.0004	NANOPHTHALMOS 2
chr11	118721457	118721458	MFRP	GLN	TER	175	606227.0002	NANOPHTHALMOS 2
chr11	119053654	119053657	PVRL1	TRP	TER	185	600644.0001	CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME OROFACIAL CLEFT 7, INCLUDED
chr11	120513566	120513569	TECTA	CYS	SER	1057	602574.0004	DEAFNESS, AUTOSOMAL DOMINANT 12
chr11	120536218	120536221	TECTA	CYS	SER	1619	602574.0005	DEAFNESS, AUTOSOMAL DOMINANT 12
chr11	120542583	120542584	TECTA	GLY	ASP	1824	602574.0001	DEAFNESS, AUTOSOMAL DOMINANT 12
chr11	120542621	120542622	TECTA	CYS	GLY	1837	602574.0008	DEAFNESS, AUTOSOMAL DOMINANT 12
chr11	120542621	120542622	TECTA	CYS	ARG	1837	602574.0011	DEAFNESS, AUTOSOMAL DOMINANT 12
chr11	120543994	120543995	TECTA	TYR	CYS	1870	602574.0002	DEAFNESS, AUTOSOMAL DOMINANT 8
chr11	120544053	120544054	TECTA	ARG	CYS	1890	602574.0010	DEAFNESS, AUTOSOMAL DOMINANT 12
chr11	120563812	120563813	TECTA	ARG	HIS	2021	602574.0009	DEAFNESS, AUTOSOMAL DOMINANT 12
chr11	120679379	120679380	SC5DL	ARG	GLN	29	602286.0001	LATHOSTEROLOSIS
chr11	120679430	120679431	SC5DL	TYR	SER	46	602286.0003	LATHOSTEROLOSIS
chr11	120683162	120683163	SC5DL	GLY	ASP	211	602286.0002	LATHOSTEROLOSIS
chr11	123029690	123029691	SCN3B	LEU	PRO	10	608214.0001	BRUGADA SYNDROME 7
chr11	124240696	124240697	ROBO3	LEU	PRO	5	608630.0008	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
chr11	124243942	124243943	ROBO3	ILE	LEU	66	608630.0009	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
chr11	124245140	124245141	ROBO3	ARG	TRP	245	608630.0013	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
chr11	124245755	124245756	ROBO3	GLU	LYS	319	608630.0006	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
chr11	124246167	124246168	ROBO3	GLY	GLU	361	608630.0001	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
chr11	124248024	124248025	ROBO3	GLY	TER	456	608630.0005	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
chr11	124250250	124250251	ROBO3	ARG	PRO	703	608630.0003	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
chr11	124250255	124250256	ROBO3	SER	PRO	705	608630.0004	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
chr11	124250686	124250687	ROBO3	GLN	TER	773	608630.0014	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
chr11	125275104	125275105	HYLS1	ASP	GLY	211	610693.0001	HYDROLETHALUS SYNDROME
chr11	125668052	125668053	TIRAP	SER	LEU	180	606252.0001	INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST BACTEREMIA, PROTECTION AGAINST, INCLUDED
chr11	125668052	125668053	TIRAP	SER	LEU	180	606252.0001	 MALARIA, RESISTANCE TO, INCLUDED
chr11	125668052	125668053	TIRAP	SER	LEU	180	606252.0001	 MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED
chr11	125799830	125799831	KIRREL3	VAL	PHE	731	607761.0003	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4
chr11	125821981	125821982	KIRREL3	ARG	GLN	336	607761.0002	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4
chr11	125937954	125937955	KIRREL3	ARG	TRP	40	607761.0001	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4
chr11	128214335	128214336	KCNJ1	MET	THR	338	600359.0006	BARTTER SYNDROME, ANTENATAL, TYPE 2
chr11	128214750	128214753	KCNJ1	SER	ARG	200	600359.0003	BARTTER SYNDROME, ANTENATAL, TYPE 2
chr11	128214764	128214765	KCNJ1	ALA	VAL	195	600359.0005	BARTTER SYNDROME, ANTENATAL, TYPE 2
chr11	128214813	128214814	KCNJ1	ALA	THR	198	600359.0007	BARTTER SYNDROME, ANTENATAL, TYPE 2
chr11	128214905	128214906	KCNJ1	GLY	GLU	167	600359.0008	BARTTER SYNDROME, ANTENATAL, TYPE 2
chr11	128215083	128215084	KCNJ1	ASP	HIS	108	600359.0009	BARTTER SYNDROME, ANTENATAL, TYPE 2
chr11	128215168	128215169	KCNJ1	TYR	TER	60	600359.0001	BARTTER SYNDROME, ANTENATAL, TYPE 2
chr11	128215176	128215179	KCNJ1	TRP	TER	58	600359.0004	BARTTER SYNDROME, ANTENATAL, TYPE 2
chr11	129535086	129535087	ST14	MET	ILE	1	606797.0002	ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
chr11	129584838	129584839	ST14	GLY	ARG	827	606797.0001	ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
chr11	132032307	132032308	OPCML	PRO	ARG	95	600632.0001	OVARIAN CANCER, SOMATIC
chr11	133636441	133636442	ACAD8	ARG	GLN	302	604773.0005	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
chr12	1823892	1823893	CACNA2D4	TYR	TER	802	608171.0001	RETINAL CONE DYSTROPHY 4
chr12	1823892	1823893	KIF21A	ARG	TRP	954	608283.0001	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
chr12	2094716	2094717	CACNA1C	ALA	VAL	39	114205.0004	BRUGADA SYNDROME 3
chr12	2094716	2094717	COL2A1	THR	MET	1370	120140.0035	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
chr12	2483952	2483953	CACNA1C	GLY	SER	402	114205.0002	TIMOTHY SYNDROME
chr12	2483964	2483965	CACNA1C	GLY	ARG	406	114205.0001	TIMOTHY SYNDROME
chr12	2484358	2484359	CACNA1C	GLY	SER	402	114205.0002	TIMOTHY SYNDROME
chr12	2484370	2484371	CACNA1C	GLY	ARG	406	114205.0001	TIMOTHY SYNDROME
chr12	2529446	2529447	CACNA1C	GLY	ARG	490	114205.0003	BRUGADA SYNDROME 3
chr12	4349990	4349991	FGF23	ARG	TRP	179	605380.0002	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
chr12	4349998	4349999	FGF23	ARG	GLN	176	605380.0001	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
chr12	4350139	4350140	FGF23	SER	PHE	129	605380.0005	TUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC
chr12	4352048	4352049	FGF23	MET	THR	96	605380.0004	TUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC
chr12	4358798	4358799	FGF23	SER	GLY	71	605380.0003	TUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC
chr12	4891324	4891325	KCNA1	VAL	PHE	174	176260.0003	EPISODIC ATAXIA, TYPE 1
chr12	4891355	4891356	KCNA1	PHE	CYS	184	176260.0005	EPISODIC ATAXIA, TYPE 1
chr12	4891480	4891481	KCNA1	THR	ALA	226	176260.0007	EPISODIC ATAXIA, TYPE 1
chr12	4891481	4891482	KCNA1	THR	ARG	226	176260.0013	EPISODIC ATAXIA, TYPE 1
chr12	4891481	4891482	KCNA1	THR	LYS	226	176260.0014	MYOKYMIA 1
chr12	4891519	4891520	KCNA1	ARG	SER	239	176260.0002	EPISODIC ATAXIA, TYPE 1
chr12	4891528	4891529	KCNA1	ALA	PRO	242	176260.0010	MYOKYMIA 1
chr12	4891535	4891536	KCNA1	PRO	HIS	244	176260.0011	MYOKYMIA 1
chr12	4891549	4891550	KCNA1	PHE	ILE	249	176260.0004	EPISODIC ATAXIA, TYPE 1
chr12	4891567	4891568	KCNA1	ASN	ASP	255	176260.0015	MYOKYMIA 1 WITH HYPOMAGNESEMIA
chr12	4891779	4891780	KCNA1	GLU	ASP	325	176260.0006	EPISODIC ATAXIA, TYPE 1
chr12	4892014	4892015	KCNA1	VAL	ILE	404	176260.0008	EPISODIC ATAXIA, TYPE 1
chr12	4892027	4892028	KCNA1	VAL	ALA	408	176260.0001	EPISODIC ATAXIA, TYPE 1
chr12	4892053	4892054	KCNA1	ARG	TER	417	176260.0012	EPISODIC ATAXIA, TYPE 1
chr12	5024696	5024697	KCNA5	GLU	TER	375	176267.0001	ATRIAL FIBRILLATION, FAMILIAL, 7
chr12	5025153	5025154	KCNA5	THR	MET	527	176267.0002	ATRIAL FIBRILLATION, FAMILIAL, 7
chr12	5025300	5025301	KCNA5	ALA	VAL	576	176267.0003	ATRIAL FIBRILLATION, FAMILIAL, 7
chr12	5025401	5025402	KCNA5	GLU	LYS	610	176267.0004	ATRIAL FIBRILLATION, FAMILIAL, 7
chr12	5997869	5997870	VWF	ARG	TER	1659	193400.0015	VON WILLEBRAND DISEASE, TYPE III
chr12	5998093	5998094	VWF	TYR	CYS	1584	193400.0029	VON WILLEBRAND DISEASE, TYPE I
chr12	5998922	5998923	VWF	ARG	CYS	1308	193400.0025	VON WILLEBRAND DISEASE, TYPE IIB
chr12	6001386	6001387	VWF	ARG	HIS	1205	193400.0027	VON WILLEBRAND DISEASE, TYPE IIM VON WILLEBRAND FACTOR VICENZA
chr12	6002259	6002260	VWF	CYS	ARG	1149	193400.0028	VON WILLEBRAND DISEASE, TYPE I
chr12	6014238	6014239	VWF	ARG	GLN	854	193400.0014	VON WILLEBRAND DISEASE, TYPE I
chr12	6037356	6037357	VWF	GLY	ARG	550	193400.0023	VON WILLEBRAND DISEASE, TYPE IIC
chr12	6327624	6327625	SCNN1A	SER	LEU	562	600228.0005	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
chr12	6328407	6328408	SCNN1A	ARG	TER	508	600228.0002	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
chr12	6328610	6328611	SCNN1A	TRP	ARG	493	600228.0007	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
chr12	6353870	6353871	SCNN1A	VAL	ILE	114	600228.0006	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
chr12	6353969	6353970	SCNN1A	ARG	CYS	81	600228.0008	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
chr12	6848605	6848606	TPI1	GLU	TER	145	190450.0006	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
chr12	7252416	7252417	PEX5	ARG	TER	390	600414.0002	ZELLWEGER SYNDROME
chr12	7253562	7253563	PEX5	ASN	LYS	489	600414.0001	ADRENOLEUKODYSTROPHY, NEONATAL
chr12	8648760	8648761	AICDA	PHE	SER	151	605257.0007	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
chr12	8648771	8648772	AICDA	CYS	TER	147	605257.0006	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
chr12	8649089	8649090	AICDA	MET	VAL	139	605257.0005	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
chr12	8649187	8649188	AICDA	LEU	PRO	106	605257.0004	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
chr12	8649266	8649267	AICDA	TRP	ARG	80	605257.0003	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
chr12	8649302	8649305	AICDA	TRP	TER	68	605257.0002	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
chr12	8650813	8650814	AICDA	ARG	TRP	24	605257.0001	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
chr12	9123617	9123618	A2M	CYS	TYR	972	103950.0002	ALPHA-2-MACROGLOBULIN POLYMORPHISM
chr12	10162353	10162354	CLEC7A	TYR	TER	238	606264.0001	CANDIDIASIS, FAMILIAL 4
chr12	11883402	11883403	ETV6	GLU	TER	76	600618.0001	LEUKEMIA, ACUTE MYELOID, SOMATIC
chr12	12208694	12208695	LRP6	ARG	CYS	611	603507.0001	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2
chr12	12762265	12762268	CDKN1B	TRP	TER	76	600778.0001	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
chr12	14885056	14885057	ART4	GLN	TER	148	110600.0005	DOMBROCK-NULL PHENOTYPE
chr12	21590621	21590622	GYS2	MET	ARG	491	138571.0005	GLYCOGEN STORAGE DISEASE 0, LIVER
chr12	21590646	21590647	GYS2	SER	PRO	483	138571.0007	GLYCOGEN STORAGE DISEASE 0, LIVER
chr12	21590657	21590658	GYS2	PRO	GLN	479	138571.0003	GLYCOGEN STORAGE DISEASE 0, LIVER
chr12	21602486	21602487	GYS2	HIS	ASP	446	138571.0008	GLYCOGEN STORAGE DISEASE 0, LIVER
chr12	21607165	21607166	GYS2	ALA	PRO	339	138571.0004	GLYCOGEN STORAGE DISEASE 0, LIVER
chr12	21613152	21613153	GYS2	ARG	TER	246	138571.0001	GLYCOGEN STORAGE DISEASE 0, LIVER
chr12	21648677	21648678	GYS2	ASN	SER	39	138571.0006	GLYCOGEN STORAGE DISEASE 0, LIVER
chr12	21845357	21845358	ABCC9	ALA	THR	1513	601439.0002	CARDIOMYOPATHY, DILATED, 1O
chr12	21849487	21849488	ABCC9	ALA	THR	1513	601439.0002	CARDIOMYOPATHY, DILATED, 1O
chr12	25254096	25254099	KRAS	PHE	LEU	156	190070.0018	CARDIOFACIOCUTANEOUS SYNDROME
chr12	25254104	25254105	KRAS	ASP	VAL	153	190070.0010	CARDIOFACIOCUTANEOUS SYNDROME NOONAN SYNDROME 3, INCLUDED
chr12	25254104	25254105	KRAS	ASP	VAL	153	190070.0015	NOONAN SYNDROME 3
chr12	25254107	25254108	KRAS	VAL	GLY	152	190070.0014	NOONAN SYNDROME 3
chr12	25259745	25259748	KRAS	PHE	LEU	156	190070.0018	CARDIOFACIOCUTANEOUS SYNDROME
chr12	25259756	25259757	KRAS	VAL	GLY	152	190070.0014	NOONAN SYNDROME 3
chr12	25271546	25271547	KRAS	GLY	ARG	60	190070.0009	CARDIOFACIOCUTANEOUS SYNDROME
chr12	25271546	25271547	KRAS	GLY	SER	60	190070.0020	NOONAN SYNDROME 3
chr12	25271549	25271550	KRAS	ALA	THR	59	190070.0004	BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
chr12	25271551	25271552	KRAS	THR	ILE	58	190070.0011	NOONAN SYNDROME 3
chr12	25289484	25289485	KRAS	PRO	ARG	34	190070.0013	CARDIOFACIOCUTANEOUS SYNDROME
chr12	25289545	25289546	KRAS	VAL	ILE	14	190070.0012	NOONAN SYNDROME 3
chr12	25289547	25289548	KRAS	GLY	ASP	13	190070.0003	BREAST ADENOCARCINOMA, SOMATIC
chr12	25289548	25289549	KRAS	GLY	ARG	13	190070.0016	PILOCYTIC ASTROCYTOMA, SOMATIC
chr12	25289550	25289551	KRAS	GLY	ASP	12	190070.0005	PANCREATIC CARCINOMA, SOMATIC GASTRIC CANCER, SOMATIC, INCLUDED
chr12	25289550	25289551	KRAS	GLY	VAL	12	190070.0006	PANCREATIC CARCINOMA, SOMATIC
chr12	25289551	25289552	KRAS	GLY	CYS	12	190070.0001	LUNG CANCER, SOMATIC
chr12	25289551	25289552	KRAS	GLY	ARG	12	190070.0002	LUNG CANCER, SQUAMOUS CELL, SOMATIC BLADDER CANCER, SOMATIC, INCLUDED
chr12	25289551	25289552	KRAS	GLY	SER	12	190070.0007	GASTRIC CANCER, SOMATIC
chr12	25289570	25289571	KRAS	LYS	ASN	5	190070.0017	CARDIOFACIOCUTANEOUS SYNDROME
chr12	25289572	25289573	KRAS	LYS	GLU	5	190070.0019	NOONAN SYNDROME 3
chr12	32642766	32642767	FGD4	ARG	TER	224	611104.0001	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
chr12	32645610	32645611	FGD4	ARG	TER	275	611104.0006	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
chr12	32646417	32646418	FGD4	MET	THR	298	611104.0005	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
chr12	32669974	32669975	FGD4	GLY	TER	586	611104.0004	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
chr12	32775318	32775319	DNM1L	ALA	ASP	395	603850.0001	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION
chr12	32846699	32846700	PKP2	ARG	TER	735	602861.0002	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
chr12	32923221	32923222	PKP2	ARG	TER	79	602861.0001	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
chr12	38012304	38012305	KIF21A	ILE	THR	1010	608283.0003	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
chr12	38012472	38012473	KIF21A	ARG	GLN	954	608283.0002	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
chr12	38012473	38012474	KIF21A	ARG	TRP	954	608283.0001	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
chr12	38012473	38012474	KIF21A	ARG	GLN	954	608283.0002	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED
chr12	38012674	38012675	KIF21A	MET	ILE	947	608283.0007	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B
chr12	38012675	38012676	KIF21A	MET	ARG	947	608283.0006	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
chr12	38012676	38012677	KIF21A	MET	VAL	947	608283.0005	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
chr12	38038394	38038395	KIF21A	MET	THR	356	608283.0004	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
chr12	38979193	38979194	LRRK2	ILE	VAL	1122	609007.0005	PARKINSON DISEASE 8
chr12	38990502	38990503	LRRK2	ARG	GLY	1441	609007.0001	PARKINSON DISEASE 8
chr12	38990502	38990503	LRRK2	ARG	CYS	1441	609007.0003	PARKINSON DISEASE 8
chr12	38990503	38990504	LRRK2	ARG	HIS	1441	609007.0008	PARKINSON DISEASE 8
chr12	39001182	39001183	LRRK2	TYR	CYS	1699	609007.0002	PARKINSON DISEASE 8
chr12	39020468	39020469	LRRK2	GLY	SER	2019	609007.0006	PARKINSON DISEASE 8
chr12	39020472	39020473	LRRK2	ILE	THR	2020	609007.0007	PARKINSON DISEASE 8
chr12	39043594	39043595	LRRK2	GLY	ARG	2385	609007.0009	PARKINSON DISEASE, SUSCEPTIBILITY TO
chr12	41149591	41149592	PRICKLE1	ARG	GLN	104	608500.0001	EPILEPSY, PROGRESSIVE MYOCLONIC 1B, EPM1B
chr12	42458307	42458308	IRAK4	GLN	TER	293	606883.0002	IRAK4 DEFICIENCY
chr12	46524908	46524909	VDR	ARG	CYS	391	601769.0011	VITAMIN D-DEPENDENT RICKETS, TYPE II
chr12	46526423	46526424	VDR	GLU	LYS	329	601769.0014	VITAMIN D-DEPENDENT RICKETS, TYPE II
chr12	46526467	46526468	VDR	ILE	SER	314	601769.0010	VITAMIN D-DEPENDENT RICKETS, TYPE II
chr12	46526493	46526494	VDR	HIS	GLN	305	601769.0009	VITAMIN D-DEPENDENT RICKETS, TYPE II
chr12	46545155	46545156	VDR	ARG	GLN	73	601769.0002	VITAMIN D-DEPENDENT RICKETS, TYPE II
chr12	46559026	46559027	VDR	GLY	ASP	46	601769.0008	VITAMIN D-DEPENDENT RICKETS, TYPE II
chr12	46559065	46559066	VDR	GLY	ASP	33	601769.0001	VITAMIN D-DEPENDENT RICKETS, TYPE II
chr12	46559075	46559076	VDR	ARG	TER	30	601769.0012	VITAMIN D-DEPENDENT RICKETS, TYPE II
chr12	46654139	46654140	COL2A1	THR	MET	1370	120140.0035	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
chr12	46654141	46654142	COL2A1	CYS	TER	1438	120140.0042	SPONDYLOPERIPHERAL DYSPLASIA
chr12	46654283	46654284	COL2A1	TYR	CYS	1391	120140.0039	PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE
chr12	46656101	46656102	COL2A1	GLY	SER	1170	120140.0043	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY LEGG-CALVE-PERTHES DISEASE, INCLUDED
chr12	46661878	46661879	COL2A1	GLY	SER	717	120140.0044	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
chr12	46662941	46662942	COL2A1	GLY	SER	717	120140.0044	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
chr12	46680068	46680069	COL2A1	CYS	TER	64	120140.0051	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
chr12	46680090	46680091	COL2A1	CYS	TYR	57	120140.0052	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
chr12	46680090	46680091	C1S	ARG	TER	534	120580.0002	C1S DEFICIENCY
chr12	46680121	46680124	COL2A1	TRP	TER	47	120140.0050	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
chr12	46810442	46810443	PFKM	ARG	PRO	39	610681.0003	GLYCOGEN STORAGE DISEASE VII
chr12	46810442	46810443	PFKM	ARG	LEU	39	610681.0006	GLYCOGEN STORAGE DISEASE VII
chr12	46812962	46812963	PFKM	ARG	TER	95	610681.0007	GLYCOGEN STORAGE DISEASE VII
chr12	46822090	46822091	PFKM	ASP	ALA	543	610681.0004	GLYCOGEN STORAGE DISEASE VII
chr12	46825145	46825146	PFKM	TRP	CYS	686	610681.0008	GLYCOGEN STORAGE DISEASE VII
chr12	47646320	47646321	WNT10B	ARG	TRP	332	601906.0001	SPLIT-HAND/FOOT MALFORMATION 6
chr12	47771257	47771258	DHH	LEU	PRO	162	605423.0002	46,XY GONADAL DYSGENESIS, COMPLETE, DHH-RELATED
chr12	47774560	47774561	DHH	MET	THR	1	605423.0001	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY
chr12	47865150	47865151	TUBA1A	ARG	HIS	422	602529.0008	LISSENCEPHALY 3
chr12	47865151	47865152	TUBA1A	ARG	CYS	422	602529.0007	LISSENCEPHALY 3
chr12	47865159	47865160	TUBA1A	SER	LEU	419	602529.0005	LISSENCEPHALY 3
chr12	47865210	47865211	TUBA1A	ARG	HIS	402	602529.0002	LISSENCEPHALY 3
chr12	47865225	47865226	TUBA1A	LEU	PRO	397	602529.0006	LISSENCEPHALY 3
chr12	47865625	47865626	TUBA1A	ARG	CYS	264	602529.0001	LISSENCEPHALY 3
chr12	47865628	47865629	TUBA1A	PRO	THR	263	602529.0004	LISSENCEPHALY 3
chr12	47865853	47865854	TUBA1A	ILE	LEU	188	602529.0003	LISSENCEPHALY 3
chr12	47975670	47975671	PRPH	ASP	TYR	141	170710.0002	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
chr12	48630943	48630944	AQP2	LEU	VAL	22	107777.0012	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48631049	48631050	AQP2	GLN	PRO	57	107777.0016	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48631069	48631070	AQP2	GLY	ARG	64	107777.0004	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48631082	48631083	AQP2	ASN	SER	68	107777.0008	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48631178	48631179	AQP2	GLY	VAL	100	107777.0017	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48634217	48634218	AQP2	THR	MET	125	107777.0010	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48634220	48634221	AQP2	THR	MET	126	107777.0007	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48634282	48634283	AQP2	ALA	THR	147	107777.0006	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48634366	48634367	AQP2	GLY	ARG	175	107777.0011	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48634696	48634697	AQP2	CYS	TRP	181	107777.0013	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48634712	48634713	AQP2	ARG	CYS	187	107777.0001	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48634721	48634722	AQP2	ALA	THR	190	107777.0019	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48635487	48635488	AQP2	SER	PRO	216	107777.0002	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	48635613	48635614	AQP2	GLU	LYS	258	107777.0009	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
chr12	48635626	48635627	AQP2	PRO	LEU	262	107777.0018	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
chr12	49672340	49672341	SLC11A2	ARG	CYS	416	600523.0003	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD
chr12	49672859	49672860	SLC11A2	GLU	ASP	399	600523.0001	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD
chr12	49679263	49679264	SLC11A2	GLY	VAL	212	600523.0005	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD
chr12	50593230	50593231	ACVRL1	GLY	GLU	48	601284.0005	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
chr12	50593232	50593233	ACVRL1	ALA	PRO	49	601284.0005	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
chr12	50594495	50594496	ACVRL1	GLY	ASP	211	601284.0011	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
chr12	50595533	50595534	ACVRL1	CYS	TYR	344	601284.0012	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED
chr12	50596157	50596158	ACVRL1	ARG	TRP	374	601284.0007	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED
chr12	50596164	50596165	ACVRL1	MET	ARG	376	601284.0002	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
chr12	50596230	50596231	ACVRL1	ILE	ASN	398	601284.0006	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
chr12	50596233	50596234	ACVRL1	TRP	SER	399	601284.0013	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
chr12	50596268	50596269	ACVRL1	ARG	TRP	411	601284.0009	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED
chr12	50596269	50596270	ACVRL1	ARG	GLN	411	601284.0001	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED
chr12	50596269	50596270	ACVRL1	ARG	PRO	411	601284.0015	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II
chr12	50600881	50600882	ACVRL1	ARG	TRP	484	601284.0010	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED
chr12	50967162	50967163	KRT81	GLU	LYS	413	602153.0001	MONILETHRIX
chr12	50967195	50967196	KRT81	GLU	LYS	402	602153.0002	MONILETHRIX
chr12	50982306	50982307	KRT86	ASN	ASP	114	601928.0004	MONILETHRIX
chr12	50982319	50982320	KRT86	ALA	GLU	118	601928.0006	MONILETHRIX
chr12	50986287	50986288	KRT86	GLU	LYS	402	601928.0003	MONILETHRIX
chr12	50986287	50986288	KRT86	GLU	GLN	402	601928.0005	MONILETHRIX
chr12	50986320	50986321	KRT86	GLU	LYS	413	601928.0001	MONILETHRIX
chr12	50986322	50986323	KRT86	GLU	ASP	413	601928.0002	MONILETHRIX
chr12	51047223	51047224	KRT85	ARG	HIS	78	602767.0001	ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE
chr12	51127838	51127839	KRT6B	GLU	LYS	472	148042.0001	PACHYONYCHIA CONGENITA, TYPE 2
chr12	51168388	51168389	KRT6A	GLU	LYS	472	148041.0003	PACHYONYCHIA CONGENITA, TYPE 1
chr12	51168396	51168397	KRT6A	LEU	ARG	469	148041.0004	PACHYONYCHIA CONGENITA, TYPE 1
chr12	51172719	51172720	KRT6A	PHE	VAL	174	148041.0002	PACHYONYCHIA CONGENITA, TYPE 1
chr12	51196697	51196698	KRT5	GLU	TER	477	148040.0015	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR KERATODERMA
chr12	51196702	51196703	KRT5	GLU	GLY	475	148040.0001	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
chr12	51196712	51196713	KRT5	LYS	TER	472	148040.0016	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR KERATOSIS
chr12	51196874	51196875	KRT5	GLU	LYS	418	148040.0021	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, AUTOSOMAL RECESSIVE
chr12	51197745	51197746	KRT5	ASN	LYS	329	148040.0005	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
chr12	51197752	51197753	KRT5	MET	THR	327	148040.0004	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
chr12	51199187	51199188	KRT5	ASN	LYS	193	148040.0007	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
chr12	51199210	51199211	KRT5	VAL	LEU	186	148040.0014	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
chr12	51199806	51199807	KRT5	SER	PRO	181	148040.0012	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
chr12	51199828	51199829	KRT5	LYS	ASN	173	148040.0006	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
chr12	51199839	51199840	KRT5	GLU	LYS	170	148040.0020	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED, INCLUDED
chr12	51199865	51199866	KRT5	ILE	SER	161	148040.0003	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
chr12	51200273	51200274	KRT5	PRO	LEU	25	148040.0009	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
chr12	51200327	51200328	KRT5	VAL	ALA	7	148040.0010	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
chr12	51200333	51200334	KRT5	SER	TER	5	148040.0019	DOWLING-DEGOS DISEASE
chr12	51356364	51356365	KRT1	ILE	THR	479	139350.0005	ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
chr12	51356365	51356366	KRT1	ILE	PHE	479	139350.0006	ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
chr12	51356376	51356377	KRT1	LEU	PRO	475	139350.0009	EPIDERMOLYTIC HYPERKERATOSIS
chr12	51359935	51359936	KRT1	VAL	ASP	155	139350.0007	EPIDERMOLYTIC HYPERKERATOSIS
chr12	51471266	51471267	KRT3	GLU	LYS	509	148043.0001	MEESMANN CORNEAL DYSTROPHY
chr12	51471266	51471267	KRT8	GLY	CYS	61	148060.0001	CIRRHOSIS, CRYPTOGENIC CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED
chr12	51987748	51987749	AAAS	ARG	TER	478	605378.0002	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
chr12	51988145	51988146	AAAS	LEU	PHE	430	605378.0009	ACHALASIA-ALACRIMA SYNDROME
chr12	51989208	51989209	AAAS	ARG	TER	312	605378.0001	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
chr12	51989256	51989257	AAAS	SER	PRO	263	605378.0007	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
chr12	51989674	51989675	AAAS	SER	PRO	263	605378.0007	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
chr12	52001473	52001474	AAAS	GLN	LYS	15	605378.0006	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
chr12	52109957	52109958	AMHR2	ARG	GLN	406	600956.0004	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II
chr12	54401452	54401453	RDH5	SER	PHE	73	601617.0002	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
chr12	54401897	54401898	RDH5	ARG	TRP	157	601617.0008	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
chr12	54401958	54401959	RDH5	VAL	GLY	177	601617.0005	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
chr12	54404078	54404079	RDH5	GLY	TRP	238	601617.0001	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
chr12	54404477	54404478	RDH5	ARG	HIS	280	601617.0003	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
chr12	54404479	54404480	RDH5	TYR	HIS	281	601617.0006	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
chr12	54404479	54404480	RDH5	LEU	GLY	310	601617.0007	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
chr12	54404518	54404519	RDH5	ALA	PRO	294	601617.0004	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
chr12	55133753	55133754	MIP	THR	ARG	138	154050.0001	CATARACT, POLYMORPHIC AND LAMELLAR
chr12	55133765	55133766	MIP	GLU	GLY	134	154050.0002	CATARACT, POLYMORPHIC AND LAMELLAR
chr12	55692895	55692896	TAC3	MET	THR	90	162330.0001	HYPOGONADOTROPIC HYPOGONADISM
chr12	55709634	55709635	MYO1A	SER	PRO	910	601478.0006	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A
chr12	55717668	55717669	MYO1A	GLY	GLU	662	601478.0005	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A
chr12	55721491	55721492	MYO1A	GLU	ASP	385	601478.0004	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A
chr12	55723385	55723386	MYO1A	VAL	MET	306	601478.0003	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A
chr12	55727725	55727726	MYO1A	ARG	TER	93	601478.0001	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A
chr12	56249064	56249065	KIF5A	ASN	SER	256	602821.0001	SPASTIC PARAPLEGIA 10
chr12	56249312	56249313	KIF5A	TYR	CYS	276	602821.0003	SPASTIC PARAPLEGIA 10
chr12	56249323	56249324	KIF5A	ARG	CYS	280	602821.0002	SPASTIC PARAPLEGIA 10
chr12	56249697	56249698	KIF5A	ALA	VAL	361	602821.0004	SPASTIC PARAPLEGIA 10
chr12	56431696	56431697	CDK4	ARG	HIS	24	123829.0002	MELANOMA, CUTANEOUS MALIGNANT, 3
chr12	56431697	56431698	CDK4	ARG	CYS	24	123829.0001	MELANOMA, CUTANEOUS MALIGNANT, 3
chr12	56443847	56443848	CYP27B1	THR	ILE	409	609506.0011	VITAMIN D-DEPENDENT RICKETS, TYPE I
chr12	56444196	56444197	CYP27B1	ARG	HIS	389	609506.0012	VITAMIN D-DEPENDENT RICKETS, TYPE I
chr12	56444197	56444198	CYP27B1	ARG	GLY	389	609506.0015	VITAMIN D-DEPENDENT RICKETS, TYPE I
chr12	56444218	56444219	CYP27B1	PRO	SER	382	609506.0004	VITAMIN D-DEPENDENT RICKETS, TYPE I
chr12	56444536	56444537	CYP27B1	LEU	PHE	343	609506.0016	VITAMIN D-DEPENDENT RICKETS, TYPE I
chr12	56444559	56444560	CYP27B1	ARG	PRO	335	609506.0003	VITAMIN D-DEPENDENT RICKETS, TYPE I
chr12	56444804	56444805	CYP27B1	THR	ARG	321	609506.0009	VITAMIN D-DEPENDENT RICKETS, TYPE I
chr12	56445369	56445370	CYP27B1	GLU	GLY	189	609506.0017	VITAMIN D-DEPENDENT RICKETS, TYPE I
chr12	56446068	56446069	CYP27B1	GLY	GLU	125	609506.0002	VITAMIN D-DEPENDENT RICKETS, TYPE I
chr12	56446122	56446123	CYP27B1	ARG	HIS	107	609506.0001	VITAMIN D-DEPENDENT RICKETS, TYPE I
chr12	56476588	56476589	TSFM	ARG	TRP	333	604723.0001	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
chr12	63409034	63409035	GNS	GLN	TER	390	607664.0003	MUCOPOLYSACCHARIDOSIS TYPE IIID
chr12	63417085	63417086	GNS	ARG	TER	355	607664.0001	MUCOPOLYSACCHARIDOSIS TYPE IIID
chr12	64883849	64883852	IRAK3	TRP	TER	76	604459.0001	ASTHMA SUSCEPTIBILITY 5
chr12	68030216	68030217	LYZ	ASP	HIS	67	153450.0002	AMYLOIDOSIS, FAMILIAL VISCERAL
chr12	70652572	70652573	TPH2	PRO	SER	206	607478.0003	BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO
chr12	70659099	70659100	TPH2	ARG	TRP	303	607478.0002	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7
chr12	70711590	70711591	TPH2	ARG	HIS	441	607478.0001	UNIPOLAR DEPRESSION, SUSCEPTIBILITY TO
chr12	79625962	79625963	MYF6	ALA	SER	112	159991.0001	MYOPATHY, CENTRONUCLEAR, MILD BECKER MUSCULAR DYSTROPHY, INCLUDED
chr12	86995170	86995171	CEP290	GLY	TER	1890	610142.0001	JOUBERT SYNDROME 5
chr12	87001843	87001844	CEP290	LYS	TER	1575	610142.0007	JOUBERT SYNDROME 5 LEBER CONGENITAL AMAUROSIS 10, INCLUDED
chr12	87029227	87029228	CEP290	LEU	TER	750	610142.0006	LEBER CONGENITAL AMAUROSIS 10
chr12	87048231	87048232	CEP290	ARG	TER	205	610142.0010	MECKEL SYNDROME TYPE 4
chr12	87059194	87059195	CEP290	TRP	CYS	7	610142.0003	JOUBERT SYNDROME 5
chr12	87463681	87463682	KITLG	ASN	SER	36	184745.0003	HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
chr12	89969375	89969376	KERA	ARG	TER	313	603288.0004	CORNEA PLANA 2
chr12	89973449	89973450	KERA	ASN	SER	247	603288.0001	CORNEA PLANA 2
chr12	89973545	89973546	KERA	THR	LYS	215	603288.0003	CORNEA PLANA 2
chr12	89973669	89973670	KERA	GLN	TER	174	603288.0002	CORNEA PLANA 2
chr12	94905061	94905062	HAL	ARG	PRO	322	609457.0004	HISTIDINEMIA
chr12	94908380	94908381	HAL	PRO	LEU	259	609457.0003	HISTIDINEMIA
chr12	94910680	94910681	HAL	ARG	LEU	208	609457.0002	HISTIDINEMIA
chr12	94910686	94910687	HAL	ARG	THR	206	609457.0001	HISTIDINEMIA
chr12	97452233	97452234	TMPO	ARG	CYS	690	188380.0001	CARDIOMYOPATHY, DILATED, 1T
chr12	97513398	97513399	SLC25A3	GLY	GLU	72	600370.0001	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
chr12	99314281	99314282	SLC17A8	ALA	VAL	211	607557.0001	DEAFNESS, AUTOSOMAL DOMINANT 25
chr12	100671317	100671318	GNPTAB	ARG	TER	1189	607840.0004	MUCOLIPIDOSIS II ALPHA/BETA MUCOLIPIDOSIS III ALPHA/BETA, INCLUDED
chr12	100678014	100678015	GNPTAB	SER	TER	1058	607840.0005	MUCOLIPIDOSIS II ALPHA/BETA
chr12	100682145	100682148	GNPTAB	TRP	TER	894	607840.0007	MUCOLIPIDOSIS II ALPHA/BETA
chr12	100687993	100687994	GNPTAB	ASP	GLY	407	607840.0002	MUCOLIPIDOSIS III ALPHA/BETA
chr12	100688093	100688096	GNPTAB	PHE	LEU	374	607840.0015	MUCOLIPIDOSIS III ALPHA/BETA MUCOLIPIDOSIS II ALPHA/BETA, INCLUDED
chr12	100707859	100707860	GNPTAB	GLN	TER	104	607840.0003	MUCOLIPIDOSIS II ALPHA/BETA
chr12	100748574	100748575	GNPTAB	LYS	GLN	4	607840.0014	MUCOLIPIDOSIS III ALPHA/BETA
chr12	101758379	101758380	PAH	ASP	ASN	415	612349.0043	HYPERPHENYLALANINEMIA, NON-PKU
chr12	101758381	101758382	PAH	TYR	CYS	414	612349.0017	HYPERPHENYLALANINEMIA, NON-PKU
chr12	101758384	101758385	PAH	ARG	PRO	413	612349.0016	PHENYLKETONURIA
chr12	101758399	101758400	PAH	ARG	GLN	408	612349.0038	PHENYLKETONURIA
chr12	101758400	101758401	PAH	ARG	TRP	408	612349.0002	PHENYLKETONURIA
chr12	101758402	101758403	PAH	PRO	LEU	407	612349.0062	PHENYLKETONURIA
chr12	101761583	101761584	PAH	GLU	GLY	390	612349.0051	HYPERPHENYLALANINEMIA, NON-PKU PHENYLKETONURIA, INCLUDED
chr12	101761590	101761591	PAH	VAL	MET	388	612349.0045	PHENYLKETONURIA
chr12	101761613	101761614	PAH	THR	MET	380	612349.0054	HYPERPHENYLALANINEMIA, NON-PKU
chr12	101761676	101761677	PAH	SER	TER	359	612349.0052	PHENYLKETONURIA
chr12	101761684	101761685	PAH	TYR	TER	356	612349.0019	PHENYLKETONURIA
chr12	101762263	101762264	PAH	SER	PRO	349	612349.0041	PHENYLKETONURIA
chr12	101762311	101762312	PAH	LEU	PHE	333	612349.0050	HYPERPHENYLALANINEMIA, NON-PKU
chr12	101762332	101762335	PAH	TRP	TER	326	612349.0015	PHENYLKETONURIA
chr12	101764806	101764807	PAH	ALA	GLY	322	612349.0042	HYPERPHENYLALANINEMIA, NON-PKU MILD
chr12	101764839	101764840	PAH	LEU	PRO	311	612349.0003	PHENYLKETONURIA
chr12	101764855	101764856	PAH	ILE	VAL	306	612349.0044	HYPERPHENYLALANINEMIA, NON-PKU
chr12	101769610	101769611	PAH	PHE	CYS	299	612349.0039	PHENYLKETONURIA
chr12	101770722	101770723	PAH	PRO	LEU	281	612349.0012	PHENYLKETONURIA
chr12	101770726	101770727	PAH	GLU	LYS	280	612349.0004	PHENYLKETONURIA
chr12	101770735	101770736	PAH	TYR	ASP	277	612349.0029	PHENYLKETONURIA
chr12	101770746	101770747	PAH	SER	PHE	273	612349.0023	PHENYLKETONURIA
chr12	101770750	101770751	PAH	GLY	TER	272	612349.0020	PHENYLKETONURIA
chr12	101770782	101770783	PAH	ARG	GLN	261	612349.0006	PHENYLKETONURIA
chr12	101770783	101770784	PAH	ARG	TER	261	612349.0036	PHENYLKETONURIA
chr12	101770788	101770789	PAH	ALA	VAL	259	612349.0028	PHENYLKETONURIA
chr12	101770800	101770801	PAH	LEU	SER	255	612349.0026	PHENYLKETONURIA
chr12	101770810	101770811	PAH	ARG	TRP	252	612349.0007	PHENYLKETONURIA
chr12	101770830	101770831	PAH	VAL	ALA	245	612349.0059	HYPERPHENYLALANINEMIA, NON-PKU
chr12	101770833	101770834	PAH	PRO	LEU	244	612349.0047	PHENYLKETONURIA
chr12	101770836	101770837	PAH	ARG	GLN	243	612349.0014	PHENYLKETONURIA
chr12	101770837	101770838	PAH	ARG	TER	243	612349.0011	PHENYLKETONURIA
chr12	101773087	101773088	PAH	GLU	GLY	221	612349.0035	PHENYLKETONURIA
chr12	101773138	101773139	PAH	TYR	CYS	204	612349.0013	PHENYLKETONURIA
chr12	101773222	101773223	PAH	ARG	LEU	176	612349.0058	HYPERPHENYLALANINEMIA, NON-PKU
chr12	101784539	101784540	PAH	ARG	GLN	158	612349.0010	PHENYLKETONURIA
chr12	101812663	101812664	PAH	ARG	TER	111	612349.0005	PHENYLKETONURIA
chr12	101812701	101812702	PAH	LEU	SER	98	612349.0053	HYPERPHENYLALANINEMIA, NON-PKU MILD
chr12	101812735	101812738	PAH	SER	ARG	87	612349.0057	HYPERPHENYLALANINEMIA, NON-PKU
chr12	101812767	101812768	PAH	GLU	GLY	76	612349.0067	HYPERPHENYLALANINEMIA, NON-PKU
chr12	101812800	101812801	PAH	ILE	THR	65	612349.0063	PHENYLKETONURIA
chr12	101830723	101830724	PAH	LEU	SER	48	612349.0034	PHENYLKETONURIA
chr12	101830726	101830727	PAH	ALA	VAL	47	612349.0056	HYPERPHENYLALANINEMIA, NON-PKU
chr12	101830730	101830731	PAH	GLY	SER	46	612349.0055	PHENYLKETONURIA
chr12	101830751	101830754	PAH	PHE	LEU	39	612349.0031	PHENYLKETONURIA
chr12	101830751	101830754	PAH	SER	ARG	349	612349.0032	PHENYLKETONURIA
chr12	101835035	101835036	PAH	MET	ILE	1	612349.0048	PHENYLKETONURIA
chr12	101835037	101835038	PAH	MET	VAL	1	612349.0009	PHENYLKETONURIA HYPERPHENYLALANINEMIA, NON-PKU, INCLUDED
chr12	101876203	101876204	ASCL1	PRO	THR	18	100790.0001	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
chr12	107448192	107448193	SART3	VAL	MET	591	611684.0001	POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
chr12	108025749	108025750	UNG	PHE	SER	251	191525.0003	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
chr12	108025749	108025750	VWF	ARG	CYS	545	193400.0006	VON WILLEBRAND DISEASE, TYPE IIB
chr12	108025749	108025750	VWF	ARG	GLN	578	193400.0008	VON WILLEBRAND DISEASE, TYPE IIB
chr12	108025749	108025750	VWF	ARG	HIS	636	193400.0010	VON WILLEBRAND FACTOR POLYMORPHISM
chr12	108483255	108483256	MMAB	ARG	TRP	186	607568.0001	METHYLMALONIC ACIDURIA, cblB TYPE
chr12	108497068	108497069	MVK	HIS	PRO	20	251170.0003	HYPER-IgD SYNDROME MEVALONIC ACIDURIA, INCLUDED
chr12	108503704	108503705	MVK	PRO	LEU	165	251170.0005	HYPER-IgD SYNDROME
chr12	108513462	108513463	MVK	ILE	THR	268	251170.0004	HYPER-IgD SYNDROME MEVALONIC ACIDURIA, INCLUDED
chr12	108517231	108517232	MVK	ASN	THR	301	251170.0001	MEVALONIC ACIDURIA
chr12	108517257	108517258	MVK	VAL	MET	310	251170.0007	MEVALONIC ACIDURIA
chr12	108517329	108517330	MVK	ALA	THR	334	251170.0006	MEVALONIC ACIDURIA
chr12	108518702	108518703	MVK	VAL	ILE	377	251170.0002	HYPER-IgD SYNDROME
chr12	108706565	108706566	TRPV4	PRO	LEU	799	605427.0007	METATROPIC DYSPLASIA
chr12	108710649	108710650	TRPV4	ALA	SER	716	605427.0005	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
chr12	108714583	108714584	TRPV4	VAL	ILE	620	605427.0002	BRACHYOLMIA TYPE 3
chr12	108714594	108714595	TRPV4	ARG	GLN	616	605427.0001	BRACHYOLMIA TYPE 3
chr12	108714882	108714883	TRPV4	ARG	HIS	594	605427.0003	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
chr12	108720955	108720956	TRPV4	ASP	GLY	333	605427.0004	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
chr12	108720962	108720963	TRPV4	ILE	PHE	331	605427.0006	METATROPIC DYSPLASIA
chr12	108721007	108721008	TRPV4	ARG	CYS	316	605427.0010	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED
chr12	108721010	108721011	TRPV4	ARG	TRP	315	605427.0008	 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCLUDED
chr12	108721010	108721011	TRPV4	ARG	TRP	315	605427.0008	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED
chr12	108722852	108722853	TRPV4	ARG	HIS	269	605427.0009	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCLUDED
chr12	108722853	108722854	TRPV4	ARG	CYS	269	605427.0011	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
chr12	109204044	109204045	ATP2A2	GLY	GLU	23	108740.0001	DARIER DISEASE
chr12	109214309	109214310	ATP2A2	GLN	TER	108	108740.0002	DARIER DISEASE
chr12	109218853	109218854	ATP2A2	ARG	GLN	131	108740.0012	DARIER DISEASE
chr12	109249912	109249913	ATP2A2	CYS	PHE	268	108740.0005	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE
chr12	109261825	109261826	ATP2A2	CYS	ARG	560	108740.0006	DARIER DISEASE
chr12	109262889	109262890	ATP2A2	PRO	LEU	602	108740.0011	ACROKERATOSIS VERRUCIFORMIS
chr12	109264617	109264618	ATP2A2	ASN	SER	767	108740.0004	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE
chr12	109264622	109264623	ATP2A2	GLY	ARG	769	108740.0010	DARIER DISEASE, SEGMENTAL
chr12	109267510	109267511	ATP2A2	TYR	TER	894	108740.0009	DARIER DISEASE, SEGMENTAL
chr12	109836473	109836474	MYL2	ARG	GLN	58	160781.0004	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
chr12	109841319	109841320	MYL2	GLU	LYS	22	160781.0002	CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10, INCLUDED
chr12	109841331	109841334	MYL2	PHE	LEU	18	160781.0005	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
chr12	109841346	109841347	MYL2	ALA	THR	13	160781.0001	CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2
chr12	110726148	110726149	ALDH2	GLU	LYS	504	100650.0001	ALCOHOL SENSITIVITY, ACUTE ALCOHOL DEPENDENCE, PROTECTION AGAINST, INCLUDED
chr12	110726148	110726149	ALDH2	GLU	LYS	504	100650.0001	 HANGOVER, SUSCEPTIBILITY TO, INCLUDED
chr12	110726148	110726149	ALDH2	GLU	LYS	504	100650.0001	 SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO, INCLUDED
chr12	111372548	111372549	PTPN11	ASP	GLY	61	176876.0010	NOONAN SYNDROME 1
chr12	111372550	111372551	PTPN11	TYR	ASP	62	176876.0009	NOONAN SYNDROME 1
chr12	111372554	111372555	PTPN11	TYR	CYS	63	176876.0008	NOONAN SYNDROME 1
chr12	111372580	111372581	PTPN11	ALA	SER	72	176876.0001	NOONAN SYNDROME 1
chr12	111372581	111372582	PTPN11	ALA	GLY	72	176876.0002	NOONAN SYNDROME 1
chr12	111372584	111372585	PTPN11	THR	ILE	73	176876.0011	NOONAN SYNDROME 1 LEUKEMIA, JUVENILE MYELOMONOCYTIC, INCLUDED
chr12	111372592	111372593	PTPN11	GLU	LYS	76	176876.0014	LEUKEMIA, JUVENILE MYELOMONOCYTIC
chr12	111372593	111372594	PTPN11	GLU	VAL	76	176876.0015	LEUKEMIA, JUVENILE MYELOMONOCYTIC
chr12	111372593	111372594	PTPN11	GLU	GLY	76	176876.0016	LEUKEMIA, JUVENILE MYELOMONOCYTIC
chr12	111372593	111372594	PTPN11	GLU	ALA	76	176876.0017	LEUKEMIA, JUVENILE MYELOMONOCYTIC
chr12	111372602	111372603	PTPN11	GLN	ARG	79	176876.0018	NOONAN SYNDROME
chr12	111395209	111395210	PTPN11	TYR	CYS	279	176876.0005	LEOPARD SYNDROME
chr12	111395227	111395228	PTPN11	PHE	SER	285	176876.0012	NOONAN SYNDROME 1
chr12	111399905	111399906	PTPN11	ASN	ASP	308	176876.0003	NOONAN SYNDROME 1
chr12	111399906	111399907	PTPN11	ASN	SER	308	176876.0004	NOONAN SYNDROME 1 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME, INCLUDED
chr12	111408668	111408669	PTPN11	THR	MET	411	176876.0019	NOONAN SYNDROME
chr12	111410630	111410631	PTPN11	ALA	THR	461	176876.0020	LEOPARD SYNDROME
chr12	111410640	111410641	PTPN11	GLY	ALA	464	176876.0021	LEOPARD SYNDROME
chr12	111410652	111410653	PTPN11	THR	MET	468	176876.0006	LEOPARD SYNDROME
chr12	111411266	111411267	PTPN11	SER	THR	502	176876.0007	NOONAN SYNDROME 1
chr12	111411291	111411292	PTPN11	GLN	PRO	510	176876.0022	LEOPARD SYNDROME
chr12	111411291	111411292	PTPN11	GLN	ARG	510	176876.0023	NOONAN SYNDROME
chr12	113307708	113307709	TBX5	ARG	GLN	237	601620.0003	HOLT-ORAM SYNDROME
chr12	113307709	113307710	TBX5	ARG	TRP	237	601620.0005	HOLT-ORAM SYNDROME
chr12	113320862	113320863	TBX5	TYR	TER	136	601620.0009	HOLT-ORAM SYNDROME
chr12	113324017	113324018	TBX5	GLY	ARG	80	601620.0004	HOLT-ORAM SYNDROME
chr12	113324050	113324051	TBX5	GLU	TER	69	601620.0002	HOLT-ORAM SYNDROME
chr12	113324094	113324095	TBX5	ILE	THR	54	601620.0008	HOLT-ORAM SYNDROME
chr12	113325941	113325942	TBX5	GLN	LYS	49	601620.0007	HOLT-ORAM SYNDROME
chr12	113599831	113599832	TBX3	LYS	TER	273	601621.0003	ULNAR-MAMMARY SYNDROME
chr12	118109265	118109266	HSPB8	LYS	GLU	141	608014.0002	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
chr12	118109267	118109268	HSPB8	LYS	ASN	141	608014.0001	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
chr12	118109267	118109268	HSPB8	LYS	ASN	141	608014.0003	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L
chr12	119649300	119649301	ACADS	ARG	TRP	46	606885.0001	SCAD DEFICIENCY
chr12	119659279	119659280	ACADS	ARG	CYS	107	606885.0002	SCAD DEFICIENCY
chr12	119901032	119901033	HNF1A	ILE	LEU	27	142410.0011	INSULIN RESISTANCE, SUSCEPTIBILITY TO SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF, INCLUDED
chr12	119911026	119911027	HNF1A	PRO	LEU	112	142410.0015	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
chr12	119911056	119911057	HNF1A	TYR	CYS	122	142410.0004	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
chr12	119911082	119911083	HNF1A	ARG	TRP	131	142410.0016	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
chr12	119916450	119916451	HNF1A	ARG	HIS	272	142410.0005	INSULIN-DEPENDENT DIABETES MELLITUS
chr12	119916462	119916463	HNF1A	ALA	ASP	276	142410.0019	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
chr12	119916590	119916591	HNF1A	GLY	SER	319	142410.0008	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
chr12	119919689	119919690	HNF1A	PRO	LEU	447	142410.0002	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
chr12	119921543	119921544	HNF1A	SER	THR	531	142410.0021	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
chr12	119921791	119921792	HNF1A	ARG	GLY	583	142410.0006	INSULIN-DEPENDENT DIABETES MELLITUS
chr12	119921792	119921793	HNF1A	ARG	GLN	583	142410.0014	HEPATIC ADENOMA
chr12	119923340	119923341	HNF1A	THR	ILE	620	142410.0009	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
chr12	120762286	120762287	HPD	ILE	MET	335	609695.0004	TYROSINEMIA, TYPE III
chr12	120769207	120769208	HPD	TYR	TER	258	609695.0002	TYROSINEMIA, TYPE III
chr12	120769499	120769500	HPD	TYR	TER	200	609695.0003	TYROSINEMIA, TYPE III
chr12	120772014	120772015	HPD	TYR	CYS	160	609695.0001	TYROSINEMIA, TYPE III
chr12	122675291	122675292	EIF2B1	ASN	TYR	208	606686.0002	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr12	122769191	122769192	ATP6V0A2	ARG	TER	63	611716.0002	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II
chr12	122805036	122805037	ATP6V0A2	GLN	TER	765	611716.0001	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II
chr12	130982798	130982799	PUS1	ARG	TRP	116	608109.0001	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
chr12	130991902	130991903	PUS1	GLU	TER	220	608109.0002	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
chr13	19614867	19614868	GJA3	PRO	LEU	187	121015.0003	CATARACT, ZONULAR PULVERULENT, 3
chr13	19615200	19615201	GJA3	ARG	HIS	76	121015.0004	CATARACT, ZONULAR PULVERULENT, 3
chr13	19615239	19615240	GJA3	ASN	SER	63	121015.0001	CATARACT, ZONULAR PULVERULENT, 3
chr13	19661115	19661116	GJB2	CYS	PHE	202	121011.0018	DEAFNESS, AUTOSOMAL DOMINANT 3A
chr13	19661169	19661170	GJB2	ARG	PRO	184	121011.0008	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661185	19661186	GJB2	ASP	ASN	179	121011.0028	DEAFNESS, AUTOSOMAL DOMINANT 3A
chr13	19661244	19661245	GJB2	ASP	VAL	159	121011.0024	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661292	19661293	GJB2	ARG	GLN	143	121011.0017	DEAFNESS, AUTOSOMAL DOMINANT 3A DEAFNESS, AUTOSOMAL RECESSIVE 1A, INCLUDED
chr13	19661293	19661294	GJB2	ARG	TRP	143	121011.0009	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661451	19661452	GJB2	LEU	PRO	90	121011.0016	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661470	19661471	GJB2	VAL	LEU	84	121011.0032	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661470	19661471	GJB2	VAL	MET	84	121011.0037	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661491	19661494	GJB2	TRP	TER	77	121011.0002	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661491	19661492	GJB2	TRP	ARG	77	121011.0004	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661496	19661497	GJB2	ARG	GLN	75	121011.0026	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS DEAFNESS, AUTOSOMAL DOMINANT 3A, INCLUDED
chr13	19661497	19661498	GJB2	ARG	TRP	75	121011.0011	DEAFNESS, AUTOSOMAL DOMINANT 3A
chr13	19661502	19661503	GJB2	HIS	ARG	73	121011.0038	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
chr13	19661524	19661525	GJB2	ASP	HIS	66	121011.0012	VOHWINKEL SYNDROME
chr13	19661544	19661545	GJB2	GLY	ALA	59	121011.0015	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
chr13	19661545	19661546	GJB2	GLY	SER	59	121011.0035	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
chr13	19661558	19661559	GJB2	ASN	LYS	54	121011.0030	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
chr13	19661572	19661573	GJB2	ASP	ASN	50	121011.0020	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, INCLUDED
chr13	19661572	19661573	GJB2	ASP	TYR	50	121011.0027	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME
chr13	19661581	19661582	GJB2	GLU	TER	47	121011.0006	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661586	19661587	GJB2	GLY	GLU	45	121011.0033	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME
chr13	19661588	19661589	GJB2	TRP	CYS	44	121011.0019	DEAFNESS, AUTOSOMAL DOMINANT 3A
chr13	19661589	19661590	GJB2	TRP	SER	44	121011.0031	DEAFNESS, AUTOSOMAL DOMINANT 3A
chr13	19661611	19661612	GJB2	VAL	ILE	37	121011.0023	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661619	19661620	GJB2	MET	THR	34	121011.0001	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661650	19661653	GJB2	TRP	TER	24	121011.0003	DEAFNESS, AUTOSOMAL RECESSIVE 1A
chr13	19661670	19661671	GJB2	SER	PHE	17	121011.0022	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME
chr13	19661686	19661687	GJB2	GLY	ARG	12	121011.0021	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME
chr13	19695356	19695357	GJB6	ALA	VAL	88	604418.0003	ECTODERMAL DYSPLASIA, HIDROTIC
chr13	19695509	19695510	GJB6	VAL	GLU	37	604418.0005	ECTODERMAL DYSPLASIA, HIDROTIC
chr13	19695588	19695589	GJB6	GLY	ARG	11	604418.0002	ECTODERMAL DYSPLASIA, HIDROTIC
chr13	19695605	19695606	GJB6	THR	MET	5	604418.0001	DEAFNESS, AUTOSOMAL DOMINANT 3B
chr13	21153198	21153199	FGF9	SER	ASN	99	600921.0001	MULTIPLE SYNOSTOSES SYNDROME 3
chr13	22796590	22796591	SGCG	GLU	LYS	263	608896.0008	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C
chr13	22796651	22796652	SGCG	CYS	TYR	283	608896.0002	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C
chr13	24356297	24356298	CENPJ	GLU	VAL	1235	609279.0002	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6
chr13	25687287	25687288	RNF6	GLY	ASP	244	604242.0003	ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
chr13	25687294	25687295	RNF6	ALA	THR	242	604242.0002	ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
chr13	25687713	25687714	RNF6	ARG	LYS	102	604242.0001	ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
chr13	27490639	27490640	FLT3	ASP	GLU	835	136351.0006	LEUKEMIA, ACUTE MYELOID, SOMATIC
chr13	27490640	27490641	FLT3	ASP	VAL	835	136351.0003	LEUKEMIA, ACUTE MYELOID, SOMATIC LEUKEMIA, ACUTE LYMPHOBLASTIC, SOMATIC, INCLUDED
chr13	27490641	27490642	FLT3	ASP	HIS	835	136351.0004	LEUKEMIA, ACUTE MYELOID, SOMATIC
chr13	27490641	27490642	FLT3	ASP	ASN	835	136351.0005	LEUKEMIA, ACUTE MYELOID, SOMATIC
chr13	27490641	27490642	FLT3	ASP	TYR	835	136351.0007	LEUKEMIA, ACUTE MYELOID, SOMATIC LEUKEMIA, ACUTE LYMPHOBLASTIC, SOMATIC, INCLUDED
chr13	30789815	30789816	B3GALTL	GLY	GLU	393	610308.0005	PETERS-PLUS SYNDROME
chr13	31804728	31804729	BRCA2	ASN	HIS	372	600185.0013	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
chr13	31811139	31811140	BRCA2	GLU	TER	1550	600185.0029	FANCONI ANEMIA, COMPLEMENTATION GROUP D1
chr13	31812136	31812137	BRCA2	SER	TER	1882	600185.0031	 MEDULLOBLASTOMA, INCLUDED
chr13	31812136	31812137	BRCA2	SER	TER	1882	600185.0031	 PRE-B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA, INCLUDED
chr13	31812136	31812137	BRCA2	SER	TER	1882	600185.0031	WILMS TUMOR GLIOMA SUSCEPTIBILITY 3, INCLUDED
chr13	31828657	31828658	BRCA2	LEU	PRO	2510	600185.0030	FANCONI ANEMIA, COMPLEMENTATION GROUP D1
chr13	31835503	31835504	BRCA2	THR	ARG	2722	600185.0025	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
chr13	31835557	31835558	BRCA2	LEU	TER	2740	600185.0028	FANCONI ANEMIA, COMPLEMENTATION GROUP D1
chr13	31852221	31852222	BRCA2	GLN	TER	3066	600185.0032	FANCONI ANEMIA, COMPLEMENTATION GROUP D1
chr13	32489155	32489156	KL	HIS	ARG	193	604824.0002	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC
chr13	36344858	36344859	SMAD9	CYS	TER	202	603295.0001	PULMONARY HYPERTENSION, PRIMARY
chr13	38256839	38256840	FREM2	GLU	LYS	1972	608945.0003	FRASER SYNDROME
chr13	38256845	38256846	FREM2	GLU	LYS	1974	608945.0001	FRASER SYNDROME
chr13	40271215	40271216	SLC25A15	GLY	ARG	27	603861.0004	HHH SYNDROME
chr13	40271231	40271232	SLC25A15	THR	ARG	32	603861.0009	HHH SYNDROME
chr13	40271246	40271247	SLC25A15	MET	ARG	37	603861.0006	HHH SYNDROME
chr13	40271348	40271349	SLC25A15	LEU	GLN	71	603861.0007	HHH SYNDROME
chr13	40279511	40279512	SLC25A15	ARG	TER	179	603861.0003	HHH SYNDROME
chr13	40279514	40279515	SLC25A15	GLU	LYS	180	603861.0002	HHH SYNDROME
chr13	40281711	40281712	SLC25A15	THR	ILE	272	603861.0008	HHH SYNDROME
chr13	40281720	40281721	SLC25A15	ARG	GLN	275	603861.0005	HHH SYNDROME
chr13	42078695	42078696	TNFSF11	MET	LYS	199	602642.0002	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
chr13	47426645	47426646	SUCLA2	ARG	CYS	284	603921.0004	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA
chr13	47461036	47461037	SUCLA2	GLY	ARG	118	603921.0003	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA
chr13	47733358	47733359	ITM2B	TER	ARG	267	603904.0001	DEMENTIA, FAMILIAL BRITISH
chr13	47840685	47840686	RB1	ARG	TER	358	180200.0008	RETINOBLASTOMA
chr13	47851730	47851731	RB1	ARG	TER	445	180200.0003	RETINOBLASTOMA
chr13	47853550	47853551	RB1	ARG	TER	556	180200.0022	PINEOBLASTOMA RETINOBLASTOMA, TRILATERAL
chr13	47925133	47925134	RB1	SER	LEU	567	180200.0004	RETINOBLASTOMA
chr13	47928343	47928344	RB1	TYR	TER	606	180200.0026	RETINOBLASTOMA
chr13	47931844	47931845	RB1	ARG	TRP	661	180200.0019	RETINOBLASTOMA, INCOMPLETE PENETRANCE TYPE
chr13	47935894	47935895	RB1	CYS	ARG	712	180200.0024	RETINOBLASTOMA, INCOMPLETE PENETRANCE TYPE
chr13	47937164	47937165	RB1	GLU	TER	748	180200.0010	SMALL CELL CANCER OF THE LUNG
chr13	47937374	47937375	RB1	ARG	TER	787	180200.0005	RETINOBLASTOMA
chr13	50417581	50417582	RNASEH2B	ALA	THR	177	610326.0001	AICARDI-GOUTIERES SYNDROME 2
chr13	50417606	50417607	RNASEH2B	VAL	GLY	185	610326.0002	AICARDI-GOUTIERES SYNDROME 2
chr13	51409706	51409707	ATP7B	ASN	SER	1270	606882.0017	WILSON DISEASE
chr13	51413247	51413248	ATP7B	GLY	ARG	1176	606882.0021	WILSON DISEASE
chr13	51413330	51413331	ATP7B	ILE	THR	1148	606882.0021	WILSON DISEASE
chr13	51416281	51416282	ATP7B	HIS	GLN	1069	606882.0006	WILSON DISEASE
chr13	51418574	51418575	ATP7B	ARG	GLN	969	606882.0018	WILSON DISEASE
chr13	51421836	51421837	ATP7B	GLY	SER	943	606882.0013	WILSON DISEASE
chr13	51421908	51421909	ATP7B	ARG	GLY	919	606882.0014	WILSON DISEASE
chr13	51422252	51422253	ATP7B	ALA	VAL	874	606882.0016	WILSON DISEASE
chr13	51430469	51430470	ATP7B	ARG	LEU	778	606882.0009	WILSON DISEASE
chr13	51430505	51430506	ATP7B	THR	ARG	766	606882.0019	WILSON DISEASE
chr13	51430509	51430510	ATP7B	ASP	ASN	765	606882.0012	WILSON DISEASE
chr13	51430679	51430680	ATP7B	LEU	PRO	708	606882.0023	WILSON DISEASE
chr13	51432334	51432335	ATP7B	GLY	ARG	691	606882.0024	WILSON DISEASE
chr13	51433985	51433986	ATP7B	MET	ARG	645	606882.0020	WILSON DISEASE
chr13	51446491	51446492	ATP7B	GLN	TER	289	606882.0022	WILSON DISEASE
chr13	76464309	76464312	CLN5	TRP	TER	75	608102.0002	CEROID LIPOFUSCINOSIS, NEURONAL, 5
chr13	76467212	76467213	CLN5	ARG	HIS	112	608102.0004	CEROID LIPOFUSCINOSIS, NEURONAL, 5
chr13	76472715	76472716	CLN5	ASP	ASN	279	608102.0003	CEROID LIPOFUSCINOSIS, NEURONAL, 5
chr13	76472934	76472935	CLN5	GLU	TER	352	608102.0005	CEROID LIPOFUSCINOSIS, NEURONAL, 5
chr13	77373230	77373231	EDNRB	SER	ASN	305	131244.0006	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
chr13	77373316	77373317	EDNRB	TRP	CYS	276	131244.0001	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 WAARDENBURG-SHAH SYNDROME, INCLUDED
chr13	77373321	77373324	EDNRB	TRP	TER	275	131244.0003	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
chr13	77375335	77375336	EDNRB	ARG	TER	253	131244.0007	WAARDENBURG-SHAH SYNDROME
chr13	77375491	77375492	EDNRB	ARG	TER	201	131244.0008	ABCD SYNDROME
chr13	77375678	77375679	EDNRB	ALA	GLY	183	131244.0002	WAARDENBURG-SHAH SYNDROME
chr13	77390540	77390541	EDNRB	GLY	SER	57	131244.0005	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
chr13	93280787	93280788	GPC6	ARG	TER	234	604404.0004	OMODYSPLASIA 1
chr13	99718985	99718986	PCCA	ARG	TER	288	232000.0004	PROPIONIC ACIDEMIA
chr13	99723475	99723476	PCCA	ARG	TER	288	232000.0004	PROPIONIC ACIDEMIA
chr13	101177135	101177136	FGF14	PHE	SER	145	601515.0001	SPINOCEREBELLAR ATAXIA 27
chr13	102302594	102302595	ERCC5	PRO	HIS	72	133530.0007	XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME
chr13	102304663	102304664	ERCC5	GLN	TER	136	133530.0013	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
chr13	102306460	102306461	ERCC5	GLN	TER	176	133530.0006	XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME
chr13	102311971	102311972	ERCC5	ARG	TER	263	133530.0005	XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME
chr13	102317037	102317038	ERCC5	ALA	VAL	792	133530.0002	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
chr13	102318502	102318503	ERCC5	LEU	PRO	858	133530.0008	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
chr13	102318549	102318550	ERCC5	ALA	THR	874	133530.0012	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
chr13	102322747	102322748	ERCC5	GLU	TER	960	133530.0001	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
chr13	102499773	102499774	SLC10A2	THR	MET	262	601295.0001	BILE ACID MALABSORPTION, PRIMARY
chr13	102501640	102501641	SLC10A2	LEU	PRO	243	601295.0001	BILE ACID MALABSORPTION, PRIMARY
chr13	107659177	107659178	LIG4	ARG	TER	814	601837.0002	LIG4 SYNDROME
chr13	107659879	107659880	LIG4	ARG	TER	580	601837.0001	LIG4 SYNDROME
chr13	107660211	107660212	LIG4	GLY	GLU	469	601837.0003	LIG4 SYNDROME
chr13	107660784	107660785	LIG4	ARG	HIS	278	601837.0004	LIG4 SYNDROME
chr13	107661591	107661592	LIG4	THR	ILE	9	601837.0006	MULTIPLE MYELOMA, RESISTANCE TO
chr13	107661609	107661610	LIG4	ALA	VAL	3	601837.0005	MULTIPLE MYELOMA, RESISTANCE TO
chr13	109233231	109233232	IRS2	GLY	ASP	1057	600797.0001	DIABETES, TYPE II, SUSCEPTIBILITY TO
chr13	109234462	109234463	IRS2	LEU	VAL	647	600797.0002	DIABETES, TYPE II, SUSCEPTIBILITY TO
chr13	109605647	109605648	COL4A1	GLY	ARG	1580	120130.0011	PORENCEPHALY
chr13	109612772	109612773	COL4A1	GLY	ARG	1423	120130.0006	PORENCEPHALY, FAMILIAL
chr13	109620930	109620931	COL4A1	GLY	ARG	1236	120130.0001	PORENCEPHALY, FAMILIAL
chr13	109624810	109624811	COL4A1	GLY	ASP	1130	120130.0005	PORENCEPHALY, FAMILIAL
chr13	109629717	109629718	COL4A1	GLY	SER	749	120130.0002	PORENCEPHALY, FAMILIAL
chr13	109631673	109631674	COL4A1	GLY	ASP	720	120130.0010	BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY
chr13	109637528	109637529	COL4A1	GLY	GLU	562	120130.0003	BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
chr13	109637630	109637631	COL4A1	GLY	GLU	528	120130.0009	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
chr13	109637658	109637659	COL4A1	GLY	ARG	519	120130.0008	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
chr13	109642604	109642605	COL4A1	GLY	VAL	498	120130.0007	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
chr13	109757374	109757375	COL4A1	MET	LEU	1	120130.0004	PORENCEPHALY, FAMILIAL
chr13	110170014	110170015	ING1	ALA	ASP	192	601566.0003	SQUAMOUS CELL CARCINOMA, HEAD AND NECK
chr13	110170082	110170085	ING1	CYS	SER	215	601566.0001	SQUAMOUS CELL CARCINOMA, HEAD AND NECK
chr13	110170086	110170087	ING1	ASN	SER	216	601566.0002	SQUAMOUS CELL CARCINOMA, HEAD AND NECK
chr13	110170218	110170219	ING1	ASN	SER	216	601566.0002	SQUAMOUS CELL CARCINOMA, HEAD AND NECK
chr13	112819902	112819903	F7	ALA	VAL	244	227500.0006	FACTOR VII DEFICIENCY
chr13	112820898	112820899	F7	ARG	GLN	304	227500.0001	FACTOR VII HARROW FACTOR VII PADUA
chr13	112820904	112820905	F7	PHE	SER	328	227500.0024	FACTOR VII DEFICIENCY
chr13	112821045	112821046	F7	ARG	GLN	353	227500.0014	MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO
chr13	112849804	112849805	F10	ARG	TRP	287	227600.0014	FACTOR X DEFICIENCY
chr13	112851460	112851461	F10	ARG	CYS	366	227600.0001	FACTOR X SAN ANTONIO-1
chr14	20010364	20010365	PNP	ARG	TER	24	164050.0008	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
chr14	20010466	20010467	PNP	ARG	TER	58	164050.0009	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
chr14	20012553	20012554	PNP	GLU	LYS	89	164050.0001	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
chr14	20012868	20012869	PNP	ASP	GLY	128	164050.0003	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
chr14	20013118	20013119	PNP	ALA	PRO	174	164050.0002	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
chr14	20013173	20013174	PNP	TYR	CYS	192	164050.0006	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
chr14	20014430	20014431	PNP	ARG	PRO	234	164050.0004	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
chr14	20231897	20231898	ANG	PRO	LEU	112	105850.0009	AMYOTROPHIC LATERAL SCLEROSIS 9
chr14	20832782	20832785	RPGRIP1	TRP	TER	65	605446.0002	LEBER CONGENITAL AMAUROSIS 6
chr14	20859879	20859880	RPGRIP1	ALA	SER	547	605446.0006	CONE-ROD DYSTROPHY 13
chr14	20863941	20863942	RPGRIP1	ARG	LEU	827	605446.0005	CONE-ROD DYSTROPHY 13
chr14	20881035	20881036	RPGRIP1	ASP	GLY	1114	605446.0007	LEBER CONGENITAL AMAUROSIS 6
chr14	22313419	22313420	SLC7A7	ARG	TER	410	603593.0008	LYSINURIC PROTEIN INTOLERANCE
chr14	22314586	22314587	SLC7A7	LEU	ARG	334	603593.0005	LYSINURIC PROTEIN INTOLERANCE
chr14	22317887	22317890	SLC7A7	TRP	TER	242	603593.0010	LYSINURIC PROTEIN INTOLERANCE
chr14	22352286	22352287	SLC7A7	GLY	VAL	54	603593.0007	LYSINURIC PROTEIN INTOLERANCE
chr14	22352446	22352447	SLC7A7	MET	LEU	1	603593.0004	LYSINURIC PROTEIN INTOLERANCE
chr14	22860552	22860553	PABPN1	GLY	ALA	12	602279.0003	OCULOPHARYNGEAL MUSCULAR DYSTROPHY
chr14	22926962	22926963	MYH6	GLU	LYS	1457	160710.0007	CARDIOMYOPATHY, DILATED, 1EE
chr14	22932016	22932017	MYH6	GLN	HIS	1065	160710.0004	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
chr14	22932485	22932486	MYH6	ALA	SER	1004	160710.0006	CARDIOMYOPATHY, DILATED, 1EE
chr14	22933312	22933313	MYH6	PRO	LEU	830	160710.0005	CARDIOMYOPATHY, DILATED, 1EE
chr14	22933342	22933343	MYH6	ILE	ASN	820	160710.0003	ATRIAL SEPTAL DEFECT 3
chr14	22935377	22935378	MYH6	ARG	GLN	795	160710.0002	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
chr14	22953063	22953064	MYH7	GLU	LYS	1883	160760.0035	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 MYOSIN STORAGE MYOPATHY, INCLUDED
chr14	22954069	22954070	MYH7	ARG	TRP	1845	160760.0028	MYOPATHY, MYOSIN STORAGE SCAPULOPERONEAL MYOPATHY, MYH7-RELATED, INCLUDED
chr14	22954224	22954225	MYH7	LEU	PRO	1793	160760.0037	MYOPATHY, MYOSIN STORAGE
chr14	22954700	22954701	MYH7	ARG	TRP	1712	160760.0032	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22956221	22956222	MYH7	ARG	PRO	1500	160760.0029	LAING DISTAL MYOPATHY
chr14	22963032	22963033	MYH7	GLU	LYS	949	160760.0007	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22963074	22963075	MYH7	GLU	LYS	935	160760.0019	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22963107	22963108	MYH7	GLU	LYS	924	160760.0006	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22963155	22963156	MYH7	LEU	VAL	908	160760.0010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22963887	22963888	MYH7	ARG	HIS	870	160760.0034	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22964420	22964421	MYH7	ASP	GLY	778	160760.0013	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22964463	22964466	MYH7	PHE	LEU	764	160760.0023	CARDIOMYOPATHY, DILATED, 1S
chr14	22964800	22964801	MYH7	GLU	ASP	743	160760.0024	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
chr14	22964808	22964809	MYH7	GLY	ARG	741	160760.0011	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22964846	22964847	MYH7	ALA	VAL	728	160760.0025	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22964862	22964863	MYH7	ARG	CYS	723	160760.0008	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22965018	22965019	MYH7	ARG	GLN	719	160760.0021	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22965019	22965020	MYH7	ARG	TRP	719	160760.0017	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22965028	22965029	MYH7	GLY	ARG	716	160760.0018	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22966319	22966320	MYH7	SER	LEU	642	160760.0027	CARDIOMYOPATHY, DILATED, 1S
chr14	22966705	22966706	MYH7	VAL	MET	606	160760.0005	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22966771	22966772	MYH7	GLY	ARG	584	160760.0004	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22966927	22966928	MYH7	SER	PRO	532	160760.0022	CARDIOMYOPATHY, DILATED, 1S
chr14	22967588	22967589	MYH7	PHE	CYS	513	160760.0016	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22967679	22967680	MYH7	GLU	LYS	483	160760.0033	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22968053	22968054	MYH7	ARG	CYS	453	160760.0003	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22968088	22968089	MYH7	THR	MET	441	160760.0036	LAING DISTAL MYOPATHY
chr14	22968326	22968327	MYH7	ARG	GLN	403	160760.0001	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22968326	22968327	MYH7	ARG	LEU	403	160760.0014	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22968327	22968328	MYH7	ARG	TRP	403	160760.0015	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22968915	22968916	MYH7	MET	THR	349	160760.0020	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22970495	22970496	MYH7	GLY	GLU	256	160760.0012	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22970516	22970517	MYH7	ARG	GLN	249	160760.0002	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
chr14	22970698	22970699	MYH7	ALA	THR	223	160760.0026	CARDIOMYOPATHY, DILATED, 1S
chr14	23620519	23620520	NRL	LEU	PRO	160	162080.0003	RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, CLUMPED PIGMENT TYPE
chr14	23621749	23621750	NRL	SER	THR	50	162080.0001	RETINITIS PIGMENTOSA 27
chr14	23779680	23779681	TINF2	ARG	HIS	282	604319.0002	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT REVESZ SYNDROME, INCLUDED
chr14	23779681	23779682	TINF2	ARG	SER	282	604319.0003	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
chr14	23779681	23779682	TINF2	ARG	CYS	282	604319.0004	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
chr14	23779687	23779688	TINF2	LYS	GLU	280	604319.0001	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
chr14	23794502	23794503	TGM1	VAL	MET	518	190195.0018	ICHTHYOSIS, LAMELLAR, 1
chr14	23795056	23795057	TGM1	ASP	GLY	490	190195.0013	SELF-HEALING COLLODION BABY
chr14	23797703	23797704	TGM1	GLY	ASP	392	190195.0015	ICHTHYOSIS, LAMELLAR, 1
chr14	23798765	23798766	TGM1	ARG	GLN	323	190195.0005	ICHTHYOSIS, LAMELLAR, 1
chr14	23799004	23799005	TGM1	ARG	GLN	286	190195.0017	ICHTHYOSIS, LAMELLAR, 1
chr14	23799029	23799030	TGM1	GLY	ARG	278	190195.0014	SELF-HEALING COLLODION BABY ICHTHYOSIS, LAMELLAR, 1, INCLUDED
chr14	23800769	23800770	TGM1	SER	CYS	160	190195.0019	ICHTHYOSIS, LAMELLAR, 1
chr14	23800823	23800824	TGM1	ARG	HIS	142	190195.0007	ICHTHYOSIS, LAMELLAR, 1
chr14	23800824	23800825	TGM1	ARG	CYS	142	190195.0004	ICHTHYOSIS, LAMELLAR, 1 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1, INCLUDED
chr14	23801117	23801118	TGM1	GLY	ASP	94	190195.0020	ICHTHYOSIS, LAMELLAR, 1
chr14	23801117	23801118	PYGL	VAL	ILE	221	232700.0003	GLYCOGEN STORAGE DISEASE VI HERS DISEASE
chr14	23801273	23801274	TGM1	SER	TYR	42	190195.0003	ICHTHYOSIS, LAMELLAR, 1
chr14	28306998	28307001	FOXG1	TRP	TER	255	164874.0001	RETT SYNDROME, CONGENITAL VARIANT
chr14	30416596	30416597	COCH	PRO	SER	51	603196.0004	DEAFNESS, AUTOSOMAL DOMINANT 9
chr14	30416642	30416643	COCH	VAL	GLY	66	603196.0001	DEAFNESS, AUTOSOMAL DOMINANT 9
chr14	30417790	30417791	COCH	GLY	GLU	88	603196.0002	DEAFNESS, AUTOSOMAL DOMINANT 9
chr14	30417853	30417854	COCH	ILE	ASN	109	603196.0005	DEAFNESS, AUTOSOMAL DOMINANT 9
chr14	30417876	30417877	COCH	TRP	ARG	117	603196.0003	DEAFNESS, AUTOSOMAL DOMINANT 9
chr14	30417882	30417883	COCH	ALA	THR	119	603196.0006	DEAFNESS, AUTOSOMAL DOMINANT 9
chr14	30428629	30428630	COCH	MET	THR	512	603196.0009	DEAFNESS, AUTOSOMAL DOMINANT 9
chr14	30428719	30428720	COCH	CYS	PHE	542	603196.0007	DEAFNESS, AUTOSOMAL DOMINANT 9
chr14	30428719	30428720	COCH	CYS	TYR	542	603196.0008	DEAFNESS, AUTOSOMAL DOMINANT 9
chr14	34252418	34252419	CFL2	ALA	THR	35	601443.0001	NEMALINE MYOPATHY 7
chr14	34943506	34943507	NFKBIA	SER	ILE	32	164008.0001	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
chr14	34943561	34943562	NFKBIA	GLU	TER	14	164008.0003	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
chr14	34943570	34943573	NFKBIA	TRP	TER	11	164008.0002	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
chr14	36056604	36056605	NKX2-1	GLN	TER	249	600635.0009	CHOREA, BENIGN HEREDITARY
chr14	36056694	36056695	NKX2-1	GLN	TER	249	600635.0009	CHOREA, BENIGN HEREDITARY
chr14	36056712	36056713	NKX2-1	ARG	SER	243	600635.0002	CHOREA, BENIGN HEREDITARY
chr14	36056726	36056727	NKX2-1	TRP	LEU	238	600635.0003	CHOREA, BENIGN HEREDITARY
chr14	36056826	36056827	NKX2-1	GLU	TER	175	600635.0008	CHOREOATHETOSIS, CONGENITAL HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS
chr14	36201909	36201910	PAX9	LEU	PRO	21	167416.0005	TOOTH AGENESIS, SELECTIVE, 3
chr14	36201923	36201924	PAX9	ARG	TRP	26	167416.0008	TOOTH AGENESIS, SELECTIVE, 3
chr14	36201930	36201931	PAX9	ARG	PRO	28	167416.0007	TOOTH AGENESIS, SELECTIVE, 3
chr14	36201986	36201987	PAX9	ARG	TRP	47	167416.0016	TOOTH AGENESIS, SELECTIVE, 3
chr14	36201998	36201999	PAX9	GLY	SER	51	167416.0013	TOOTH AGENESIS, SELECTIVE, 3
chr14	36202106	36202107	PAX9	ILE	PHE	87	167416.0009	TOOTH AGENESIS, SELECTIVE, 3
chr14	36202118	36202119	PAX9	LYS	GLU	91	167416.0004	TOOTH AGENESIS, SELECTIVE, 3
chr14	36202187	36202188	PAX9	LYS	TER	114	167416.0002	TOOTH AGENESIS, SELECTIVE, 3
chr14	38606210	38606213	SEC23A	PHE	LEU	382	610511.0001	CRANIOLENTICULOSUTURAL DYSPLASIA
chr14	44712017	44712018	FANCM	SER	TER	724	609644.0001	FANCONI ANEMIA, COMPLEMENTATION GROUP M
chr14	49158520	49158521	MGAT2	HIS	ARG	262	602616.0002	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
chr14	49158604	49158605	MGAT2	SER	PHE	290	602616.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
chr14	49158687	49158688	MGAT2	ASN	ASP	318	602616.0003	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
chr14	49158752	49158753	MGAT2	CYS	TER	339	602616.0004	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
chr14	49805631	49805632	L2HGDH	PRO	LEU	302	609584.0001	L-2-HYDROXYGLUTARIC ACIDURIA
chr14	49839461	49839462	L2HGDH	GLY	ASP	55	609584.0004	L-2-HYDROXYGLUTARIC ACIDURIA
chr14	53486689	53486690	BMP4	ALA	VAL	346	112262.0003	OROFACIAL CLEFT 11, OFC11
chr14	53486866	53486867	BMP4	ARG	HIS	287	112262.0005	OROFACIAL CLEFT 11, OFC11
chr14	53486866	53486867	SERPINA6	LEU	HIS	93	122500.0001	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
chr14	53488412	53488413	BMP4	GLU	GLY	93	112262.0002	MICROPHTHALMIA, SYNDROMIC 6
chr14	53488418	53488419	BMP4	SER	CYS	91	112262.0004	OROFACIAL CLEFT 11, OFC11
chr14	54380490	54380491	GCH1	ARG	SER	249	600225.0016	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE
chr14	54380566	54380567	GCH1	LYS	ARG	224	600225.0013	DYSTONIA, DOPA-RESPONSIVE DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED
chr14	54380575	54380576	GCH1	MET	THR	221	600225.0011	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE
chr14	54380604	54380605	GCH1	MET	ILE	211	600225.0017	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
chr14	54382259	54382260	GCH1	GLY	GLU	201	600225.0004	DYSTONIA, DOPA-RESPONSIVE
chr14	54382266	54382267	GCH1	PRO	ALA	199	600225.0022	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE
chr14	54382275	54382276	GCH1	ALA	SER	196	600225.0014	DYSTONIA, DOPA-RESPONSIVE
chr14	54382310	54382311	GCH1	ARG	HIS	184	600225.0020	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
chr14	54401816	54401817	GCH1	HIS	PRO	144	600225.0008	DYSTONIA, DOPA-RESPONSIVE
chr14	54401843	54401844	GCH1	ILE	LYS	135	600225.0015	DYSTONIA, DOPA-RESPONSIVE
chr14	54401846	54401847	GCH1	ASP	VAL	134	600225.0002	DYSTONIA, DOPA-RESPONSIVE
chr14	54438808	54438809	GCH1	GLY	ASP	108	600225.0012	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE
chr14	54438869	54438870	GCH1	ARG	TRP	88	600225.0001	DYSTONIA, DOPA-RESPONSIVE
chr14	54438989	54438990	GCH1	GLN	TER	48	600225.0018	DYSTONIA, DOPA-RESPONSIVE
chr14	54439128	54439129	GCH1	MET	ILE	1	600225.0007	DYSTONIA, DOPA-RESPONSIVE
chr14	56338538	56338539	OTX2	TYR	TER	179	600037.0004	MICROPHTHALMIA, SYNDROMIC 5
chr14	56338810	56338811	OTX2	ARG	GLY	89	600037.0002	MICROPHTHALMIA, SYNDROMIC 5
chr14	56340666	56340667	OTX2	ARG	GLY	89	600037.0002	MICROPHTHALMIA, SYNDROMIC 5
chr14	60046361	60046362	SIX6	THR	ALA	165	606326.0001	MICROPHTHALMIA, ISOLATED, WITH CATARACT 2
chr14	60185274	60185275	SIX1	TYR	CYS	129	601205.0001	BRANCHIOOTIC SYNDROME 3
chr14	60185296	60185297	SIX1	TRP	ARG	122	601205.0004	BRANCHIOOTIC SYNDROME 3
chr14	60185332	60185333	SIX1	ARG	TRP	110	601205.0002	BRANCHIOOTIC SYNDROME 3
chr14	60993991	60993992	PRKCH	VAL	ILE	374	605437.0001	CEREBRAL INFARCTION, SUSCEPTIBILITY TO
chr14	63962222	63962223	MTHFD1	ARG	HIS	293	172460.0001	SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO
chr14	63978597	63978598	MTHFD1	ARG	GLN	653	172460.0002	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO ABRUPTIO PLACENTAE, SUSCEPTIBILITY TO, INCLUDED
chr14	64304161	64304162	SPTB	ARG	PRO	2064	182870.0012	ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA
chr14	64304195	64304196	SPTB	ALA	PRO	2053	182870.0003	ELLIPTOCYTOSIS 3
chr14	64304278	64304279	SPTB	LEU	ARG	2025	182870.0011	ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL
chr14	64304297	64304298	SPTB	SER	PRO	2019	182870.0009	SPECTRIN PROVIDENCE
chr14	64304299	64304300	SPTB	ALA	GLY	2018	182870.0008	PYROPOIKILOCYTOSIS, HEREDITARY ELLIPTOCYTOSIS 3, INCLUDED
chr14	64309337	64309338	SPTB	ARG	TER	1756	182870.0015	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT
chr14	64338267	64338268	SPTB	TRP	ARG	202	182870.0007	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT SPECTRIN KISSIMMEE
chr14	64359564	64359565	SPTB	MET	VAL	1	182870.0013	ELLIPTOCYTOSIS 3 DUE TO SPECTRIN PROMISSAO
chr14	66045025	66045026	GPHN	ASN	TYR	10	603930.0002	HYPEREKPLEXIA
chr14	67261019	67261020	RDH12	THR	MET	49	608830.0004	LEBER CONGENITAL AMAUROSIS 13
chr14	67261025	67261026	RDH12	ILE	ASN	51	608830.0012	LEBER CONGENITAL AMAUROSIS 13
chr14	67261057	67261058	RDH12	ARG	TER	62	608830.0005	LEBER CONGENITAL AMAUROSIS 13
chr14	67261675	67261676	RDH12	LEU	ILE	99	608830.0010	LEBER CONGENITAL AMAUROSIS 13
chr14	67262555	67262556	RDH12	GLY	TER	127	608830.0006	LEBER CONGENITAL AMAUROSIS 13
chr14	67263452	67263453	RDH12	HIS	ASN	151	608830.0007	LEBER CONGENITAL AMAUROSIS 13
chr14	67263452	67263453	RDH12	HIS	ASP	151	608830.0009	LEBER CONGENITAL AMAUROSIS 13
chr14	67263465	67263466	RDH12	THR	ILE	155	608830.0014	LEBER CONGENITAL AMAUROSIS 13
chr14	67263524	67263525	RDH12	SER	PRO	175	608830.0011	LEBER CONGENITAL AMAUROSIS 13
chr14	67263566	67263567	RDH12	GLN	TER	189	608830.0003	LEBER CONGENITAL AMAUROSIS 13
chr14	67265678	67265679	RDH12	TYR	CYS	226	608830.0001	LEBER CONGENITAL AMAUROSIS 13
chr14	67265689	67265690	RDH12	PRO	ALA	230	608830.0008	LEBER CONGENITAL AMAUROSIS 13
chr14	67319309	67319310	ZFYVE26	ARG	TER	1438	612012.0001	SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
chr14	67338710	67338711	ZFYVE26	GLN	TER	493	612012.0004	SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
chr14	72707405	72707406	PSEN1	ALA	VAL	79	104311.0035	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72707423	72707424	PSEN1	LEU	PRO	85	104311.0031	ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA
chr14	72707443	72707446	PSEN1	CYS	SER	92	104311.0020	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72707507	72707508	PSEN1	LEU	PRO	113	104311.0023	DEMENTIA, FRONTOTEMPORAL
chr14	72710047	72710048	PSEN1	GLU	ASP	120	104311.0013	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72710102	72710103	PSEN1	MET	VAL	139	104311.0006	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72710123	72710124	PSEN1	MET	LEU	146	104311.0001	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72710123	72710124	PSEN1	MET	VAL	146	104311.0007	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72710125	72710126	PSEN1	MET	ILE	146	104311.0015	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72723319	72723320	PSEN1	HIS	TYR	163	104311.0008	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72723320	72723321	PSEN1	HIS	ARG	163	104311.0002	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72723329	72723330	PSEN1	LEU	PRO	166	104311.0024	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72723341	72723342	PSEN1	SER	PHE	170	104311.0036	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72723352	72723353	PSEN1	LEU	MET	174	104311.0025	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72723380	72723381	PSEN1	GLY	VAL	183	104311.0027	PICK DISEASE OF BRAIN
chr14	72729172	72729173	PSEN1	GLY	ALA	206	104311.0021	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72729204	72729205	PSEN1	GLY	ARG	217	104311.0037	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
chr14	72729204	72729205	ANG	SER	ASN	28	105850.0008	AMYOTROPHIC LATERAL SCLEROSIS 9
chr14	72729292	72729293	PSEN1	ALA	GLU	246	104311.0003	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72729304	72729305	PSEN1	LEU	SER	250	104311.0016	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72734517	72734518	PSEN1	GLY	SER	266	104311.0022	ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA
chr14	72734520	72734521	PSEN1	PRO	SER	267	104311.0011	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72734532	72734533	PSEN1	LEU	VAL	271	104311.0026	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
chr14	72734554	72734555	PSEN1	ARG	THR	278	104311.0017	ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
chr14	72734554	72734555	PSEN1	ARG	ILE	278	104311.0030	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72734560	72734561	PSEN1	GLU	ALA	280	104311.0009	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72734560	72734561	PSEN1	GLU	GLY	280	104311.0010	ALZHEIMER DISEASE, FAMILIAL, 3 ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, INCLUDED
chr14	72734577	72734578	PSEN1	LEU	VAL	286	104311.0004	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72748271	72748272	PSEN1	ASP	GLY	333	104311.0034	CARDIOMYOPATHY, DILATED, 1U
chr14	72753685	72753686	PSEN1	CYS	TYR	410	104311.0005	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72755621	72755622	PSEN1	ALA	PRO	426	104311.0014	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72755637	72755638	PSEN1	ALA	GLU	431	104311.0033	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	72755652	72755653	PSEN1	PRO	GLN	436	104311.0028	ALZHEIMER DISEASE, FAMILIAL, 3
chr14	73601704	73601705	ALDH6A1	GLY	ARG	446	603178.0001	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
chr14	74017162	74017163	NPC2	GLN	TER	146	601015.0009	NIEMANN-PICK DISEASE, TYPE C2
chr14	74020875	74020876	NPC2	PRO	SER	120	601015.0010	NIEMANN-PICK DISEASE, TYPE C2
chr14	74020881	74020882	NPC2	GLU	TER	118	601015.0004	NIEMANN-PICK DISEASE, TYPE C2
chr14	74021034	74021035	NPC2	SER	PRO	67	601015.0006	NIEMANN-PICK DISEASE, TYPE C2
chr14	74022859	74022860	NPC2	VAL	MET	39	601015.0007	NIEMANN-PICK DISEASE, TYPE C2
chr14	74029672	74029673	NPC2	GLU	TER	20	601015.0001	NIEMANN-PICK DISEASE, TYPE C2
chr14	74092084	74092085	LTBP2	ARG	TER	299	602091.0001	GLAUCOMA 3, PRIMARY CONGENITAL, D
chr14	74148069	74148070	LTBP2	GLN	TER	111	602091.0004	GLAUCOMA 3, PRIMARY CONGENITAL, D
chr14	74541270	74541271	EIF2B2	SER	PHE	171	606454.0004	OVARIOLEUKODYSTROPHY
chr14	74541305	74541306	EIF2B2	ARG	TER	183	606454.0003	OVARIOLEUKODYSTROPHY
chr14	74542361	74542362	EIF2B2	GLU	GLY	213	606454.0001	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER OVARIOLEUKODYSTROPHY, INCLUDED
chr14	74545534	74545535	EIF2B2	VAL	ASP	316	606454.0002	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
chr14	74553548	74553549	MLH3	GLU	LYS	1451	604395.0005	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
chr14	74568524	74568525	MLH3	TRP	ARG	1276	604395.0008	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7
chr14	74583890	74583891	MLH3	VAL	PHE	741	604395.0007	ENDOMETRIAL CANCER COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7
chr14	74584241	74584242	MLH3	GLU	GLN	624	604395.0004	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
chr14	74584615	74584616	MLH3	ASN	SER	499	604395.0003	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
chr14	74586041	74586042	MLH3	GLN	GLU	24	604395.0002	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
chr14	75975777	75975778	ESRRB	ALA	VAL	110	602167.0002	DEAFNESS, AUTOSOMAL RECESSIVE 35
chr14	76027778	76027779	ESRRB	VAL	LEU	342	602167.0003	DEAFNESS, AUTOSOMAL RECESSIVE 35
chr14	76814944	76814945	POMT2	ARG	TER	638	607439.0001	WALKER-WARBURG SYNDROME
chr14	80491882	80491883	TSHR	ASP	HIS	36	603372.0001	THYROTROPIN RECEPTOR POLYMORPHISM
chr14	80491897	80491900	TSHR	CYS	SER	41	603372.0013	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80624058	80624059	TSHR	ARG	GLN	109	603372.0009	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80628643	80628644	TSHR	PRO	ALA	162	603372.0006	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80628659	80628660	TSHR	ILE	ASN	167	603372.0005	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80632737	80632738	TSHR	LYS	ARG	183	603372.0024	HYPERTHYROIDISM, FAMILIAL GESTATIONAL
chr14	80675924	80675925	TSHR	SER	ILE	281	603372.0017	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC
chr14	80675924	80675925	TSHR	SER	ASN	281	603372.0023	HYPERTHYROIDISM, NONAUTOIMMUNE
chr14	80679082	80679083	TSHR	ARG	CYS	310	603372.0027	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80679124	80679125	TSHR	GLN	TER	324	603372.0011	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80679324	80679325	TSHR	CYS	TRP	390	603372.0015	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80679382	80679383	TSHR	ASP	ASN	410	603372.0012	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80679445	80679446	TSHR	GLY	SER	431	603372.0028	HYPERTHYROIDISM, NONAUTOIMMUNE
chr14	80679512	80679513	TSHR	MET	THR	453	603372.0007	HYPERTHYROIDISM, NONAUTOIMMUNE
chr14	80679554	80679555	TSHR	LEU	PRO	467	603372.0030	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80679584	80679585	TSHR	THR	ILE	477	603372.0026	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80679668	80679669	TSHR	SER	ASN	505	603372.0021	HYPERTHYROIDISM, NONAUTOIMMUNE
chr14	80679680	80679681	TSHR	VAL	ALA	509	603372.0019	HYPERTHYROIDISM, NONAUTOIMMUNE
chr14	80679727	80679730	TSHR	PHE	LEU	525	603372.0014	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80679790	80679793	TSHR	TRP	TER	546	603372.0010	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80679811	80679812	TSHR	ALA	THR	553	603372.0016	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80679952	80679953	TSHR	CYS	ARG	600	603372.0029	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
chr14	80680010	80680011	TSHR	ASP	GLY	619	603372.0002	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC
chr14	80680010	80680011	TSHR	ALA	ILE	623	603372.0003	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC
chr14	80680041	80680042	TSHR	LEU	PHE	629	603372.0022	HYPERTHYROIDISM, NONAUTOIMMUNE THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC, INCLUDED
chr14	80680045	80680048	TSHR	PHE	LEU	631	603372.0004	HYPERTHYROIDISM, NONAUTOIMMUNE THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC, INCLUDED
chr14	80680051	80680052	TSHR	ASP	HIS	633	603372.0008	THYROID CARCINOMA WITH THYROTOXICOSIS
chr14	80680069	80680070	TSHR	PRO	SER	639	603372.0025	HYPERTHYROIDISM, NONAUTOIMMUNE
chr14	80680169	80680170	TSHR	CYS	TYR	672	603372.0020	HYPERTHYROIDISM, NONAUTOIMMUNE
chr14	87952890	87952891	SPATA7	ARG	TER	108	609868.0001	LEBER CONGENITAL AMAUROSIS 3
chr14	87973661	87973662	SPATA7	ARG	TER	395	609868.0003	RETINITIS PIGMENTOSA, JUVENILE, AUTOSOMAL RECESSIVE
chr14	88377292	88377293	TTC8	THR	THR	153	608132.0003	BARDET-BIEDL SYNDROME 8
chr14	89529516	89529517	TDP1	HIS	ARG	493	607198.0001	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
chr14	91406432	91406433	FBLN5	GLY	GLU	412	604580.0009	MACULAR DEGENERATION, AGE-RELATED, 3
chr14	91413681	91413682	FBLN5	ALA	THR	363	604580.0008	MACULAR DEGENERATION, AGE-RELATED, 3
chr14	91413717	91413718	FBLN5	ARG	TRP	351	604580.0007	MACULAR DEGENERATION, AGE-RELATED, 3
chr14	91423349	91423350	FBLN5	SER	PRO	227	604580.0001	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
chr14	91427430	91427431	FBLN5	ILE	THR	169	604580.0006	MACULAR DEGENERATION, AGE-RELATED, 3
chr14	91473163	91473164	FBLN5	PRO	SER	87	604580.0005	MACULAR DEGENERATION, AGE-RELATED, 3
chr14	91473210	91473211	FBLN5	ARG	GLN	71	604580.0004	MACULAR DEGENERATION, AGE-RELATED, 3
chr14	91473244	91473245	FBLN5	VAL	LEU	60	604580.0003	MACULAR DEGENERATION, AGE-RELATED, 3
chr14	91540402	91540405	TRIP11	TRP	TER	1224	604505.0002	ACHONDROGENESIS, TYPE IA
chr14	91541970	91541971	TRIP11	ASN	SER	701	604505.0004	ACHONDROGENESIS, TYPE IA
chr14	91551825	91551826	TRIP11	ARG	TER	264	604505.0001	ACHONDROGENESIS, TYPE IA
chr14	94632261	94632262	DICER1	LEU	ARG	1583	606241.0001	PLEUROPULMONARY BLASTOMA
chr14	95071472	95071473	GLRX5	GLN	GLN	98	609588.0001	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
chr14	96412122	96412123	VRK1	ARG	TER	358	602168.0001	PONTOCEREBELLAR HYPOPLASIA TYPE 1
chr14	102459878	102459879	AMN	THR	ILE	41	605799.0002	MEGALOBLASTIC ANEMIA 1, NORWEGIAN TYPE
chr14	103235505	103235506	XRCC3	THR	MET	241	600675.0001	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6
chr14	104238871	104238872	INF2	LEU	PRO	42	610982.0005	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
chr14	104240724	104240725	INF2	SER	PRO	186	610982.0001	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
chr14	104240809	104240810	INF2	ARG	HIS	214	610982.0004	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
chr14	104240820	104240821	INF2	ARG	TRP	218	610982.0003	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
chr14	104240821	104240822	INF2	ARG	GLN	218	610982.0002	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
chr14	104317595	104317596	AKT1	GLU	LYS	17	164730.0001	BREAST CANCER, SOMATIC COLORECTAL CANCER, SOMATIC, INCLUDED
chr14	104317595	104317596	AKT1	GLU	LYS	17	164730.0001	 OVARIAN CANCER, SOMATIC, INCLUDED
chr15	20612256	20612257	NIPA1	GLY	ARG	106	608145.0002	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
chr15	20612256	20612257	NIPA1	GLY	ARG	106	608145.0003	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
chr15	20612256	20612257	NIPA1	GLY	ARG	106	608145.0004	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
chr15	20637718	20637719	NIPA1	THR	ARG	45	608145.0001	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
chr15	23136460	23136463	UBE3A	TRP	TER	768	601623.0005	ANGELMAN SYNDROME
chr15	23167104	23167105	UBE3A	ARG	TER	417	601623.0004	ANGELMAN SYNDROME
chr15	23167173	23167174	UBE3A	ARG	TER	417	601623.0004	ANGELMAN SYNDROME
chr15	23167964	23167965	UBE3A	ILE	THR	130	601623.0007	ANGELMAN SYNDROME
chr15	23168037	23168038	UBE3A	THR	PRO	106	601623.0006	ANGELMAN SYNDROME
chr15	24568998	24568999	GABRB3	GLY	ARG	32	137192.0004	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
chr15	24569920	24569921	GABRB3	SER	PHE	15	137192.0003	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
chr15	24569933	24569934	GABRB3	PRO	SER	11	137192.0002	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
chr15	25789910	25789911	OCA2	PRO	LEU	743	611409.0005	ALBINISM, OCULOCUTANEOUS, TYPE II
chr15	25844909	25844910	OCA2	TRP	CYS	679	611409.0009	ALBINISM, OCULOCUTANEOUS, TYPE II
chr15	25902123	25902124	OCA2	ASN	ASP	489	611409.0010	ALBINISM, OCULOCUTANEOUS, TYPE II
chr15	25902147	25902148	OCA2	ALA	THR	481	611409.0003	ALBINISM, OCULOCUTANEOUS, TYPE II
chr15	25903841	25903842	OCA2	VAL	ILE	443	611409.0004	ALBINISM, OCULOCUTANEOUS, TYPE II
chr15	25903912	25903913	OCA2	ARG	GLN	419	611409.0012	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
chr15	25908341	25908342	OCA2	MET	ILE	394	611409.0014	ALBINISM, OCULOCUTANEOUS, TYPE II
chr15	25933559	25933560	OCA2	ALA	VAL	334	611409.0007	ALBINISM, OCULOCUTANEOUS, TYPE II
chr15	25933647	25933648	OCA2	ARG	TRP	305	611409.0011	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES, INCLUDED
chr15	29107948	29107949	TRPM1	TYR	TER	1035	603576.0003	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
chr15	29121634	29121635	TRPM1	PRO	HIS	611	603576.0006	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
chr15	29147504	29147505	TRPM1	LEU	PRO	99	603576.0005	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
chr15	29149707	29149708	TRPM1	GLN	TER	11	603576.0004	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
chr15	32315658	32315659	SLC12A6	ARG	TER	1011	604878.0003	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
chr15	32316211	32316212	SLC12A6	ARG	TER	1011	604878.0003	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
chr15	32323485	32323486	SLC12A6	ARG	TER	675	604878.0004	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
chr15	32337205	32337206	SLC12A6	ARG	CYS	207	604878.0008	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
chr15	32872923	32872924	ACTC1	HIS	TYR	90	102540.0004	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11
chr15	36378902	36378903	SPRED1	ARG	TER	24	609291.0002	LEGIUS SYNDROME
chr15	36378963	36378964	SPRED1	VAL	ASP	44	609291.0008	LEGIUS SYNDROME
chr15	36379022	36379023	SPRED1	ARG	TER	64	609291.0005	LEGIUS SYNDROME
chr15	36401874	36401875	SPRED1	ARG	TER	117	609291.0001	LEGIUS SYNDROME
chr15	36428968	36428969	SPRED1	GLN	TER	213	609291.0006	LEGIUS SYNDROME
chr15	36428974	36428975	SPRED1	GLN	TER	215	609291.0004	LEGIUS SYNDROME
chr15	36430605	36430606	SPRED1	ARG	TER	262	609291.0007	LEGIUS SYNDROME
chr15	38244628	38244629	BUB1B	THR	MET	40	602860.0001	COLORECTAL CANCER
chr15	38256164	38256165	BUB1B	ARG	TER	194	602860.0003	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED
chr15	38282101	38282102	BUB1B	ARG	GLN	550	602860.0009	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED
chr15	38292046	38292047	BUB1B	ARG	HIS	814	602860.0007	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED
chr15	38292135	38292136	BUB1B	LEU	PHE	844	602860.0004	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED
chr15	38297072	38297073	BUB1B	GLN	HIS	921	602860.0005	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED
chr15	38300133	38300134	BUB1B	LEU	PRO	1012	602860.0008	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED
chr15	38551106	38551107	CHST14	ARG	GLY	135	608429.0003	ADDUCTED THUMB-CLUBFOOT SYNDROME
chr15	38551113	38551114	CHST14	LEU	GLN	137	608429.0003	ADDUCTED THUMB-CLUBFOOT SYNDROME
chr15	38551341	38551342	CHST14	ARG	PRO	213	608429.0002	ADDUCTED THUMB-CLUBFOOT SYNDROME
chr15	38551581	38551582	CHST14	TYR	CYS	293	608429.0004	ADDUCTED THUMB-CLUBFOOT SYNDROME
chr15	38798307	38798308	RAD51	ARG	GLN	150	179617.0001	BREAST CANCER, FAMILIAL
chr15	40439551	40439552	CAPN3	SER	PHE	86	114240.0004	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
chr15	40463990	40463991	CAPN3	ARG	TER	110	114240.0003	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
chr15	40472138	40472139	CAPN3	PRO	LEU	319	114240.0005	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
chr15	40473793	40473794	CAPN3	TRP	ARG	360	114240.0007	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
chr15	40481244	40481245	CAPN3	ARG	GLN	490	114240.0010	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
chr15	40482461	40482462	CAPN3	ARG	GLN	572	114240.0002	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A
chr15	40490415	40490416	CAPN3	ARG	GLN	769	114240.0001	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH
chr15	40810249	40810250	CDAN1	PRO	LEU	671	607465.0004	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
chr15	41127883	41127884	UBR1	GLN	TER	513	605981.0003	JOHANSON-BLIZZARD SYNDROME
chr15	41162137	41162138	UBR1	HIS	ARG	136	605981.0001	JOHANSON-BLIZZARD SYNDROME
chr15	41288258	41288259	EPB42	ARG	GLN	310	177070.0003	SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-TOZEUR
chr15	41294680	41294681	EPB42	ALA	THR	142	177070.0001	SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-NIPPON
chr15	41339640	41339641	TGM5	GLY	CYS	113	603805.0001	PEELING SKIN SYNDROME, ACRAL TYPE
chr15	42653141	42653142	SPG11	ARG	TER	2034	610844.0001	SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
chr15	42663546	42663547	SPG11	GLN	TER	1875	610844.0008	SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
chr15	42743019	42743020	SPG11	GLN	TER	40	610844.0003	SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
chr15	42791066	42791067	B2M	ALA	PRO	11	109700.0001	HYPOPROTEINEMIA, HYPERCATABOLIC
chr15	43183665	43183666	DUOX2	ARG	TER	842	606759.0003	THYROID DYSHORMONOGENESIS 6
chr15	43185706	43185707	DUOX2	GLN	TER	686	606759.0002	THYROID DYSHORMONOGENESIS 6
chr15	43188376	43188377	DUOX2	ARG	TER	434	606759.0001	THYROID DYSHORMONOGENESIS 6
chr15	43189384	43189385	DUOX2	ARG	TRP	376	606759.0004	THYROID DYSHORMONOGENESIS 6
chr15	43196763	43196764	DUOXA2	TYR	TER	246	612772.0001	THYROID DYSHORMONOGENESIS 5
chr15	43448854	43448857	GATM	TRP	TER	149	602360.0001	ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY
chr15	46308766	46308767	SLC12A1	VAL	PHE	272	600839.0002	BARTTER SYNDROME, ANTENATAL, TYPE 1
chr15	46331189	46331192	SLC12A1	TRP	TER	625	600839.0003	BARTTER SYNDROME, ANTENATAL, TYPE 1
chr15	46331258	46331259	SLC12A1	ASP	ASN	648	600839.0001	BARTTER SYNDROME, ANTENATAL, TYPE 1
chr15	46490768	46490769	FBN1	ARG	TER	2776	134797.0017	MARFAN SYNDROME
chr15	46490828	46490831	FBN1	TRP	TER	2756	134797.0004	MARFAN SYNDROME
chr15	46492107	46492108	FBN1	ARG	TRP	2726	134797.0023	MARFANOID SKELETAL SYNDROME
chr15	46504971	46504972	FBN1	GLU	LYS	2447	134797.0015	ECTOPIA LENTIS, ISOLATED, 1
chr15	46507912	46507915	FBN1	CYS	SER	2307	134797.0002	MARFAN SYNDROME, MILD VARIABLE
chr15	46512432	46512435	FBN1	CYS	SER	2221	134797.0007	MARFAN SYNDROME
chr15	46516514	46516515	FBN1	ASN	SER	2144	134797.0009	MARFAN SYNDROME
chr15	46516835	46516836	FBN1	ILE	ILE	2118	134797.0030	MARFAN SYNDROME
chr15	46516850	46516851	FBN1	TYR	TER	2113	134797.0008	MARFAN SYNDROME
chr15	46543465	46543466	FBN1	CYS	ARG	1663	134797.0006	MARFAN SYNDROME
chr15	46563351	46563352	FBN1	CYS	ARG	1265	134797.0031	MARFAN SYNDROME, CLASSIC
chr15	46563399	46563402	FBN1	CYS	SER	1249	134797.0005	MARFAN SYNDROME
chr15	46563419	46563420	FBN1	CYS	TYR	1242	134797.0026	MARFAN SYNDROME
chr15	46564906	46564907	FBN1	CYS	TYR	1223	134797.0022	MARFAN SYNDROME SHPRINTZEN-GOLDBERG SYNDROME, INCLUDED
chr15	46564912	46564913	FBN1	CYS	TYR	1221	134797.0045	SHPRINTZEN-GOLDBERG SYNDROME
chr15	46566643	46566644	FBN1	ARG	HIS	1170	134797.0032	MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF
chr15	46566853	46566854	FBN1	ARG	PRO	1137	134797.0001	MARFAN SYNDROME, SEVERE CLASSIC
chr15	46566872	46566873	FBN1	ASN	TYR	1131	134797.0028	MARFAN SYNDROME, NEONATAL
chr15	46566877	46566878	FBN1	CYS	TYR	1129	134797.0044	MARFAN SYNDROME
chr15	46566884	46566885	FBN1	GLY	SER	1127	134797.0021	MARFAN SYNDROME, MILD
chr15	46566913	46566914	FBN1	CYS	TYR	1117	134797.0025	MARFAN SYNDROME
chr15	46567681	46567682	FBN1	CYS	TYR	1086	134797.0046	MARFAN SYNDROME, NEONATAL
chr15	46567718	46567719	FBN1	CYS	ARG	1074	134797.0016	MARFAN SYNDROME, NEONATAL
chr15	46567721	46567722	FBN1	GLU	LYS	1073	134797.0038	MARFAN SYNDROME, NEONATAL
chr15	46567936	46567937	FBN1	LYS	ARG	1043	134797.0027	MARFAN SYNDROME, NEONATAL
chr15	46567969	46567970	FBN1	CYS	TYR	1032	134797.0043	MARFAN SYNDROME, NEONATAL
chr15	46569384	46569385	FBN1	GLY	ARG	1013	134797.0036	MARFAN SYNDROME
chr15	46569467	46569468	FBN1	GLY	GLU	985	134797.0034	MARFAN SYNDROME, ATYPICAL
chr15	46576786	46576787	FBN1	TYR	CYS	754	134797.0041	MARFAN SYNDROME
chr15	46578472	46578473	FBN1	ASP	ALA	723	134797.0011	MARFAN SYNDROME
chr15	46589603	46589604	FBN1	ASN	ILE	548	134797.0010	MARFAN SYNDROME
chr15	46593040	46593041	FBN1	ARG	TER	529	134797.0033	MARFAN SYNDROME
chr15	46594890	46594891	FBN1	ARG	CYS	485	134797.0047	MARFAN SYNDROME, AUTOSOMAL RECESSIVE
chr15	46617117	46617118	FBN1	ARG	CYS	240	134797.0042	MARFAN SYNDROME ECTOPIA LENTIS, ISOLATED, 1, INCLUDED
chr15	46679705	46679706	FBN1	ARG	CYS	122	134797.0018	MARFAN SYNDROME, ATYPICAL
chr15	48665921	48665922	TRPM7	THR	ILE	1482	605692.0001	AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1, SUSCEPTIBILITY TO
chr15	49290498	49290499	CYP19A1	CYS	TYR	437	107910.0002	AROMATASE DEFICIENCY
chr15	49290505	49290506	CYP19A1	ARG	CYS	435	107910.0001	AROMATASE DEFICIENCY
chr15	49291948	49291949	CYP19A1	ARG	CYS	375	107910.0004	AROMATASE DEFICIENCY, PLACENTAL
chr15	49291977	49291978	CYP19A1	ARG	GLN	365	107910.0007	AROMATASE DEFICIENCY
chr15	49301837	49301838	CYP19A1	GLU	LYS	210	107910.0012	AROMATASE DEFICIENCY
chr15	51689021	51689024	WDR72	TRP	TER	978	613214.0002	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3
chr15	51695346	51695347	WDR72	SER	TER	783	613214.0001	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3
chr15	53303391	53303392	RAB27A	ALA	PRO	152	603868.0006	GRISCELLI SYNDROME, TYPE 2
chr15	53303456	53303457	RAB27A	LEU	PRO	130	603868.0005	GRISCELLI SYNDROME, TYPE 2
chr15	53303493	53303494	RAB27A	GLN	TER	118	603868.0009	GRISCELLI SYNDROME, TYPE 2
chr15	53308182	53308183	RAB27A	ALA	PRO	87	603868.0010	GRISCELLI SYNDROME, TYPE 2
chr15	53309912	53309913	RAB27A	TRP	GLY	73	603868.0001	GRISCELLI SYNDROME, TYPE 2
chr15	53510173	53510174	DYX1C1	GLU	TER	417	608706.0002	DYSLEXIA, SUSCEPTIBILITY TO, 1
chr15	61122960	61122961	TPM1	GLU	LYS	40	191010.0005	CARDIOMYOPATHY, DILATED, 1Y
chr15	61123002	61123003	TPM1	GLU	LYS	54	191010.0004	CARDIOMYOPATHY, DILATED, 1Y
chr15	61123281	61123282	TPM1	GLU	LYS	40	191010.0005	CARDIOMYOPATHY, DILATED, 1Y
chr15	61123323	61123324	TPM1	GLU	LYS	54	191010.0004	CARDIOMYOPATHY, DILATED, 1Y
chr15	61136279	61136280	TPM1	VAL	ALA	95	191010.0003	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3
chr15	61140150	61140151	TPM1	ASP	ASN	175	191010.0002	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3
chr15	61140166	61140167	TPM1	GLU	GLY	180	191010.0001	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3
chr15	62236053	62236054	PPIB	GLN	TER	151	123841.0002	OSTEOGENESIS IMPERFECTA, TYPE IX
chr15	63281264	63281265	CILP	ILE	THR	395	603489.0001	LUMBAR DISC DISEASE, SUSCEPTIBILITY TO
chr15	64514495	64514496	MAP2K1	PHE	SER	53	176872.0001	CARDIOFACIOCUTANEOUS SYNDROME
chr15	64516228	64516229	MAP2K1	GLY	VAL	128	176872.0003	CARDIOFACIOCUTANEOUS SYNDROME
chr15	64516234	64516235	MAP2K1	TYR	CYS	130	176872.0002	CARDIOFACIOCUTANEOUS SYNDROME
chr15	66289030	66289031	CLN6	TYR	TER	221	606725.0008	CEROID LIPOFUSCINOSIS, NEURONAL, 6
chr15	66291184	66291185	CLN6	GLY	ASP	123	606725.0003	CEROID LIPOFUSCINOSIS, NEURONAL, 6
chr15	66293764	66293765	CLN6	GLU	TER	72	606725.0001	CEROID LIPOFUSCINOSIS, NEURONAL, 6
chr15	69890923	69890924	NR2E3	GLY	ARG	56	604485.0006	RETINITIS PIGMENTOSA 37
chr15	69890983	69890984	NR2E3	ARG	TRP	76	604485.0002	ENHANCED S-CONE SYNDROME
chr15	69890984	69890985	NR2E3	ARG	GLN	76	604485.0003	ENHANCED S-CONE SYNDROME
chr15	69892966	69892967	NR2E3	ARG	GLN	311	604485.0005	ENHANCED S-CONE SYNDROME GOLDMANN-FAVRE SYNDROME, INCLUDED
chr15	70424855	70424856	HEXA	ARG	HIS	504	606869.0009	GM2-GANGLIOSIDOSIS, JUVENILE
chr15	70424856	70424857	HEXA	ARG	CYS	504	606869.0015	GM2-GANGLIOSIDOSIS, CHRONIC
chr15	70424870	70424871	HEXA	ARG	HIS	499	606869.0010	GM2-GANGLIOSIDOSIS, JUVENILE
chr15	70424871	70424872	HEXA	ARG	CYS	499	606869.0028	GM2-GANGLIOSIDOSIS, ADULT-ONSET
chr15	70424913	70424914	HEXA	TRP	ARG	485	606869.0030	TAY-SACHS DISEASE
chr15	70424922	70424923	HEXA	GLU	LYS	482	606869.0004	TAY-SACHS DISEASE
chr15	70425628	70425629	HEXA	TRP	CYS	474	606869.0055	GM2-GANGLIOSIDOSIS, SUBACUTE
chr15	70425690	70425691	HEXA	GLY	SER	454	606869.0048	TAY-SACHS DISEASE
chr15	70425699	70425700	HEXA	LEU	VAL	451	606869.0056	TAY-SACHS DISEASE
chr15	70425991	70425992	HEXA	TRP	CYS	420	606869.0012	TAY-SACHS DISEASE
chr15	70426074	70426075	HEXA	ARG	TER	393	606869.0020	TAY-SACHS DISEASE
chr15	70426077	70426080	HEXA	TRP	TER	392	606869.0050	TAY-SACHS DISEASE
chr15	70428474	70428477	HEXA	TRP	TER	329	606869.0029	GM2-GANGLIOSIDOSIS, B1 VARIANT
chr15	70428487	70428488	HEXA	VAL	VAL	324	606869.0057	GM2-GANGLIOSIDOSIS, SUBACUTE
chr15	70428487	70428488	IVD	ARG	CYS	21	607036.0006	ISOVALERIC ACIDEMIA
chr15	70428557	70428558	HEXA	MET	ARG	301	606869.0047	TAY-SACHS DISEASE
chr15	70429912	70429913	HEXA	GLY	SER	269	606869.0008	GM2-GANGLIOSIDOSIS, ADULT
chr15	70429945	70429946	HEXA	ASP	HIS	258	606869.0038	TAY-SACHS DISEASE, B1 VARIANT
chr15	70429968	70429969	HEXA	GLY	ASP	250	606869.0013	TAY-SACHS DISEASE, JUVENILE
chr15	70429978	70429979	HEXA	ARG	TRP	247	606869.0035	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
chr15	70430567	70430568	HEXA	PHE	SER	211	606869.0043	TAY-SACHS DISEASE
chr15	70430570	70430571	HEXA	SER	PHE	210	606869.0017	TAY-SACHS DISEASE
chr15	70430588	70430589	HEXA	HIS	ARG	204	606869.0045	TAY-SACHS DISEASE
chr15	70430601	70430602	HEXA	VAL	MET	200	606869.0036	TAY-SACHS DISEASE, B1 VARIANT
chr15	70430609	70430610	HEXA	LYS	THR	197	606869.0041	GM2-GANGLIOSIDOSIS, LATE ONSET
chr15	70430625	70430626	HEXA	VAL	LEU	192	606869.0036	TAY-SACHS DISEASE, B1 VARIANT
chr15	70432492	70432493	HEXA	TYR	TER	180	606869.0032	TAY-SACHS DISEASE
chr15	70432494	70432495	HEXA	TYR	HIS	180	606869.0053	GM2-GANGLIOSIDOSIS, LATE ONSET
chr15	70432499	70432500	HEXA	ARG	HIS	178	606869.0006	TAY-SACHS DISEASE, B1 VARIANT HEXA, DN ALLELE
chr15	70432499	70432500	HEXA	ARG	LEU	178	606869.0024	TAY-SACHS DISEASE
chr15	70432500	70432501	HEXA	ARG	CYS	178	606869.0007	TAY-SACHS DISEASE, B1 VARIANT HEXA, CZECHOSLOVAKIAN ALLELE
chr15	70432523	70432524	HEXA	ARG	GLN	170	606869.0011	TAY-SACHS DISEASE
chr15	70432524	70432525	HEXA	ARG	TRP	170	606869.0039	TAY-SACHS DISEASE
chr15	70434956	70434957	HEXA	ARG	TER	137	606869.0019	TAY-SACHS DISEASE
chr15	70434985	70434986	HEXA	LEU	ARG	127	606869.0044	TAY-SACHS DISEASE
chr15	70455251	70455252	HEXA	LEU	ARG	39	606869.0049	TAY-SACHS DISEASE
chr15	70455291	70455294	HEXA	TRP	TER	26	606869.0023	TAY-SACHS DISEASE
chr15	70455366	70455367	HEXA	MET	VAL	1	606869.0027	TAY-SACHS DISEASE
chr15	70810967	70810968	BBS4	ARG	PRO	295	600374.0001	BARDET-BIEDL SYNDROME 4
chr15	70814560	70814561	BBS4	ALA	GLU	364	600374.0004	BARDET-BIEDL SYNDROME 4
chr15	71403611	71403614	HCN4	SER	ARG	672	605206.0001	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT
chr15	71404771	71404772	HCN4	ASP	ASN	553	605206.0003	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT
chr15	71409118	71409119	HCN4	GLY	ARG	480	605206.0004	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT
chr15	72006598	72006599	LOXL1	ARG	LEU	141	153456.0001	EXFOLIATION SYNDROME, SUSCEPTIBILITY TO
chr15	72006634	72006635	LOXL1	GLY	ASP	153	153456.0002	EXFOLIATION SYNDROME, SUSCEPTIBILITY TO
chr15	72259514	72259515	STRA6	ARG	CYS	655	610745.0003	MICROPHTHALMIA, SYNDROMIC 9
chr15	72259546	72259547	STRA6	THR	MET	644	610745.0004	MICROPHTHALMIA, SYNDROMIC 9
chr15	72268610	72268611	STRA6	THR	PRO	321	610745.0006	MICROPHTHALMIA, SYNDROMIC 9
chr15	72268637	72268638	STRA6	THR	PRO	321	610745.0006	MICROPHTHALMIA, SYNDROMIC 9
chr15	72270282	72270283	STRA6	PRO	LEU	293	610745.0001	MICROPHTHALMIA, SYNDROMIC 9
chr15	72275511	72275512	STRA6	PRO	LEU	90	610745.0005	MICROPHTHALMIA, SYNDROMIC 9
chr15	72275538	72275539	STRA6	PRO	LEU	90	610745.0005	MICROPHTHALMIA, SYNDROMIC 9
chr15	72418154	72418155	CYP11A1	VAL	GLU	415	118485.0008	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL
chr15	72419061	72419062	CYP11A1	ALA	VAL	359	118485.0005	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL
chr15	72419080	72419081	CYP11A1	ARG	TRP	353	118485.0002	ADRENAL INSUFFICIENCY, CONGENITAL
chr15	72424496	72424497	CYP11A1	ALA	VAL	189	118485.0003	ADRENAL INSUFFICIENCY, CONGENITAL
chr15	72427296	72427297	CYP11A1	LEU	TRP	141	118485.0007	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL
chr15	72970932	72970933	MPI	SER	LEU	102	154550.0002	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
chr15	72972121	72972122	MPI	MET	THR	138	154550.0003	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
chr15	72972699	72972700	MPI	ARG	GLN	219	154550.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
chr15	72976443	72976444	MPI	ARG	HIS	295	154550.0005	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
chr15	74353826	74353827	ETFA	THR	MET	266	608053.0002	GLUTARIC ACIDURIA IIA
chr15	74365858	74365859	ETFA	VAL	GLY	157	608053.0001	GLUTARIC ACIDURIA IIA
chr15	74371831	74371832	ETFA	GLY	ARG	116	608053.0003	GLUTARIC ACIDURIA IIA
chr15	75110620	75110621	PSTPIP1	ALA	THR	230	606347.0002	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
chr15	75111699	75111700	PSTPIP1	GLU	GLN	250	606347.0001	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
chr15	76669979	76669980	CHRNA5	ASP	ASN	398	118505.0001	LUNG CANCER SUSCEPTIBILITY 2
chr15	78232497	78232498	FAH	ASN	ILE	16	276700.0001	TYROSINEMIA, TYPE I
chr15	78241678	78241679	FAH	ALA	ASP	134	276700.0002	TYROSINEMIA, TYPE I
chr15	78252487	78252490	FAH	TRP	TER	262	276700.0009	TYROSINEMIA, TYPE I
chr15	78252539	78252540	FAH	GLN	ARG	279	276700.0011	TYROSINEMIA, TYPE I
chr15	78259580	78259581	FAH	ARG	TRP	341	276700.0006	FUMARYLACETOACETASE PSEUDODEFICIENCY
chr15	78260444	78260445	FAH	GLU	TER	357	276700.0004	TYROSINEMIA, TYPE I
chr15	78260465	78260466	FAH	GLU	TER	364	276700.0005	TYROSINEMIA, TYPE I
chr15	78260516	78260517	FAH	ARG	GLY	381	276700.0008	TYROSINEMIA, TYPE I
chr15	80611889	80611890	RPS17	MET	ARG	1	180472.0001	DIAMOND-BLACKFAN ANEMIA 4
chr15	81006232	81006233	RPS17	MET	ARG	1	180472.0001	DIAMOND-BLACKFAN ANEMIA 4
chr15	87555028	87555029	RLBP1	ARG	TRP	234	180090.0004	BOTHNIA RETINAL DYSTROPHY RETINITIS PUNCTATA ALBESCENS, INCLUDED
chr15	87659552	87659553	FANCI	ARG	TER	1285	611360.0003	FANCONI ANEMIA, COMPLEMENTATION GROUP I
chr15	87659553	87659554	FANCI	ARG	GLN	1285	611360.0002	FANCONI ANEMIA, COMPLEMENTATION GROUP I
chr15	87663287	87663288	POLG	GLY	ARG	1051	174763.0010	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
chr15	87665112	87665113	POLG	ALA	SER	957	174763.0014	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1
chr15	87665117	87665118	POLG	TYR	CYS	955	174763.0001	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM, INCLUDED
chr15	87665187	87665188	POLG	HIS	TYR	932	174763.0009	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
chr15	87665476	87665477	POLG	GLU	TER	873	174763.0008	ALPERS SYNDROME
chr15	87665977	87665978	POLG	ASN	SER	864	174763.0012	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY
chr15	87666011	87666012	POLG	ARG	TRP	853	174763.0018	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
chr15	87666026	87666027	POLG	GLY	SER	848	174763.0006	 ALPERS SYNDROME, INCLUDED
chr15	87666026	87666027	POLG	GLY	SER	848	174763.0006	 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY, INCLUDED
chr15	87666026	87666027	POLG	GLY	SER	848	174763.0006	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC, INCLUDED
chr15	87666076	87666077	POLG	TYR	CYS	831	174763.0015	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1
chr15	87667660	87667661	POLG	TRP	SER	748	174763.0013	 ALPERS SYNDROME, INCLUDED
chr15	87667660	87667661	POLG	TRP	SER	748	174763.0013	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED
chr15	87667694	87667695	POLG	GLY	ARG	737	174763.0019	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
chr15	87669754	87669755	POLG	ARG	TRP	627	174763.0005	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
chr15	87669873	87669874	POLG	PRO	LEU	587	174763.0011	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE, INCLUDED
chr15	87669873	87669874	POLG	PRO	LEU	587	174763.0011	 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM, INCLUDED
chr15	87671199	87671200	POLG	SER	ASN	511	174763.0020	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1
chr15	87671240	87671241	POLG	GLN	HIS	497	174763.0016	SPINOCEREBELLAR ATAXIA WITH EPILEPSY
chr15	87671435	87671436	POLG	ALA	THR	467	174763.0002	 ALPERS SYNDROME, INCLUDED
chr15	87671435	87671436	POLG	ALA	THR	467	174763.0002	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, INCLUDED
chr15	87671435	87671436	POLG	ALA	THR	467	174763.0002	 SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED
chr15	87673289	87673290	POLG	LEU	ARG	304	174763.0003	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
chr15	87674418	87674419	POLG	THR	ILE	251	174763.0007	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY, INCLUDED
chr15	87674491	87674492	POLG	ARG	TRP	227	174763.0021	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY
chr15	87677981	87677982	POLG	ARG	PRO	3	174763.0004	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
chr15	88120898	88120899	MESP2	GLU	TER	103	605195.0002	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
chr15	88120964	88120965	MESP2	LEU	VAL	125	605195.0003	SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE
chr15	89344196	89344197	VPS33B	ARG	TER	532	608552.0001	ARC SYNDROME
chr15	89346376	89346377	VPS33B	ARG	TER	438	608552.0002	ARC SYNDROME
chr15	89366394	89366395	VPS33B	LEU	PRO	30	608552.0003	ARC SYNDROME
chr15	98048079	98048080	MEF2A	ASN	SER	263	600660.0003	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION
chr15	98048127	98048128	MEF2A	PRO	LEU	279	600660.0002	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION
chr15	98048139	98048140	MEF2A	GLY	ASP	283	600660.0004	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION
chr15	98638985	98638986	ADAMTS17	GLN	TER	254	607511.0002	WEILL-MARCHESANI-LIKE SYNDROME
chr16	162911	162912	HBA2	MET	VAL	1	141850.0022	HEMOGLOBIN H DISEASE
chr16	162912	162913	HBA2	MET	THR	1	141850.0020	ALPHA-THALASSEMIA
chr16	163210	163211	HBA2	LYS	ASN	61	141850.0008	HEMOGLOBIN J (BUDA) ERYTHROCYTOSIS
chr16	163251	163252	HBA2	ASP	VAL	75	141850.0070	HEMOGLOBIN AL-HAMMADI RIYADH
chr16	163501	163502	HBA2	ALA	VAL	111	141850.0029	HEMOGLOBIN ANAMOSA
chr16	167013	167014	HBA1	LYS	THR	61	141800.0059	HEMOGLOBIN J (ANATOLIA)
chr16	167054	167055	HBA1	ASP	ASN	75	141800.0095	HEMOGLOBIN MATSUE-OKI
chr16	167054	167055	HBA1	ASP	HIS	75	141800.0122	HEMOGLOBIN Q (IRAN)
chr16	167054	167055	HBA1	ASP	TYR	75	141800.0157	HEMOGLOBIN WINNIPEG
chr16	167055	167056	HBA1	ASP	ALA	75	141800.0028	HEMOGLOBIN DUAN
chr16	167055	167056	HBA1	ASP	GLY	75	141800.0100	HEMOGLOBIN MIZUSHI
chr16	167311	167312	HBA1	ALA	THR	111	141800.0195	HEMOGLOBIN MOSELLA
chr16	859982	859983	LMF1	TYR	TER	439	611761.0001	LIPASE DEFICIENCY, COMBINED
chr16	1069586	1069587	SSTR5	ARG	TRP	240	182455.0001	SOMATOSTATIN ANALOG, RESISTANCE TO
chr16	1185501	1185504	CACNA1H	PHE	LEU	161	607904.0001	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
chr16	1190296	1190297	CACNA1H	GLU	LYS	282	607904.0002	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
chr16	1192303	1192304	CACNA1H	PRO	LEU	618	607904.0005	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
chr16	1194325	1194326	CACNA1H	GLY	ASP	773	607904.0004	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
chr16	1194369	1194370	CACNA1H	ARG	CYS	788	607904.0004	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
chr16	1195153	1195154	CACNA1H	VAL	MET	831	607904.0003	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
chr16	1196126	1196127	CACNA1H	ALA	THR	876	607904.0006	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
chr16	1351955	1351956	GNPTG	GLY	SER	106	607838.0006	MUCOLIPIDOSIS III GAMMA
chr16	1352052	1352055	GNPTG	TRP	TER	111	607838.0004	MUCOLIPIDOSIS III GAMMA
chr16	1437039	1437040	CLCN7	ARG	TRP	767	602727.0004	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
chr16	1437041	1437042	CLCN7	LEU	PRO	766	602727.0003	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
chr16	1437041	1437042	CLCN7	ARG	TRP	767	602727.0004	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
chr16	1437053	1437054	CLCN7	ARG	GLN	762	602727.0002	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
chr16	1439283	1439284	CLCN7	GLN	TER	555	602727.0001	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
chr16	1447296	1447297	CLCN7	ILE	PHE	261	602727.0006	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
chr16	1780801	1780802	IGFALS	CYS	ARG	540	601489.0002	ACID-LABILE SUBUNIT DEFICIENCY
chr16	1975992	1975993	GFER	ARG	HIS	194	600924.0001	MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY
chr16	2038650	2038651	TSC2	LYS	TER	12	191092.0003	TUBEROUS SCLEROSIS 2
chr16	2050791	2050792	TSC2	GLU	TER	366	191092.0010	LYMPHANGIOLEIOMYOMATOSIS, SOMATIC
chr16	2052561	2052564	TSC2	TRP	TER	441	191092.0017	TUBEROUS SCLEROSIS 2
chr16	2053043	2053044	TSC2	GLN	TER	478	191092.0008	TUBEROUS SCLEROSIS 2
chr16	2054342	2054343	TSC2	ARG	TER	505	191092.0005	TUBEROUS SCLEROSIS 2
chr16	2060572	2060573	TSC2	ARG	GLN	611	191092.0006	TUBEROUS SCLEROSIS 2 LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, INCLUDED
chr16	2062294	2062295	TSC2	LEU	ARG	717	191092.0007	TUBEROUS SCLEROSIS 2
chr16	2066142	2066143	TSC2	ARG	TRP	905	191092.0014	TUBEROUS SCLEROSIS 2
chr16	2066142	2066143	TSC2	ARG	GLY	905	191092.0015	TUBEROUS SCLEROSIS 2
chr16	2066143	2066144	TSC2	ARG	GLN	905	191092.0013	TUBEROUS SCLEROSIS 2
chr16	2074966	2074967	TSC2	GLN	PRO	1503	191092.0011	TUBEROUS SCLEROSIS 2
chr16	2077898	2077899	TSC2	PRO	LEU	1675	191092.0009	TUBEROUS SCLEROSIS 2
chr16	2079958	2079959	PKD1	ARG	TER	4227	601313.0004	POLYCYSTIC KIDNEY DISEASE 1
chr16	2080312	2080315	PKD1	TRP	TER	4139	601313.0015	POLYCYSTIC KIDNEY DISEASE 1, SEVERE
chr16	2080469	2080470	PKD1	CYS	TER	4086	601313.0006	POLYCYSTIC KIDNEY DISEASE 1
chr16	2081807	2081808	PKD1	GLN	TER	3837	601313.0005	POLYCYSTIC KIDNEY DISEASE 1
chr16	2081862	2081863	PKD1	TYR	TER	3818	601313.0007	POLYCYSTIC KIDNEY DISEASE 1
chr16	2099404	2099405	PKD1	GLN	TER	1922	601313.0013	POLYCYSTIC KIDNEY DISEASE 1
chr16	2104490	2104491	PKD1	LEU	SER	845	601313.0012	POLYCYSTIC KIDNEY DISEASE 1
chr16	2108022	2108023	PKD1	ARG	LEU	324	601313.0011	POLYCYSTIC KIDNEY DISEASE 1
chr16	2268017	2268018	ABCA3	GLN	PRO	1591	601615.0004	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
chr16	2268349	2268350	ABCA3	LEU	PRO	1553	601615.0003	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
chr16	2275502	2275505	ABCA3	TRP	TER	1142	601615.0001	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
chr16	2289443	2289444	ABCA3	ASN	ASP	568	601615.0005	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
chr16	2307662	2307663	ABCA3	LEU	PRO	326	601615.0007	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
chr16	2316028	2316029	ABCA3	LEU	PRO	101	601615.0002	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
chr16	3233205	3233206	MEFV	ARG	HIS	761	608107.0012	FAMILIAL MEDITERRANEAN FEVER
chr16	3233257	3233258	MEFV	ALA	SER	744	608107.0011	FAMILIAL MEDITERRANEAN FEVER
chr16	3233310	3233311	MEFV	VAL	ALA	726	608107.0003	FAMILIAL MEDITERRANEAN FEVER
chr16	3233403	3233404	MEFV	LYS	ARG	695	608107.0010	FAMILIAL MEDITERRANEAN FEVER
chr16	3233405	3233406	MEFV	MET	ILE	694	608107.0002	FAMILIAL MEDITERRANEAN FEVER
chr16	3233405	3233406	MEFV	MET	ILE	694	608107.0018	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
chr16	3233407	3233408	MEFV	MET	VAL	694	608107.0001	FAMILIAL MEDITERRANEAN FEVER
chr16	3233447	3233448	MEFV	MET	ILE	680	608107.0004	FAMILIAL MEDITERRANEAN FEVER
chr16	3233447	3233448	MEFV	MET	ILE	680	608107.0013	FAMILIAL MEDITERRANEAN FEVER
chr16	3233529	3233530	MEFV	ARG	HIS	653	608107.0016	FAMILIAL MEDITERRANEAN FEVER
chr16	3237168	3237171	MEFV	PHE	LEU	479	608107.0008	FAMILIAL MEDITERRANEAN FEVER
chr16	3237171	3237172	MEFV	HIS	TYR	478	608107.0020	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
chr16	3239468	3239469	MEFV	ARG	GLN	408	608107.0015	FAMILIAL MEDITERRANEAN FEVER
chr16	3239586	3239587	MEFV	PRO	SER	369	608107.0014	FAMILIAL MEDITERRANEAN FEVER
chr16	3244268	3244269	MEFV	THR	ILE	267	608107.0007	FAMILIAL MEDITERRANEAN FEVER
chr16	3244567	3244568	MEFV	GLU	ASP	167	608107.0006	FAMILIAL MEDITERRANEAN FEVER
chr16	3244625	3244626	MEFV	GLU	VAL	148	608107.0017	FAMILIAL MEDITERRANEAN FEVER
chr16	3244626	3244627	MEFV	GLU	GLN	148	608107.0005	FAMILIAL MEDITERRANEAN FEVER
chr16	3244626	3244627	MEFV	GLU	GLN	148	608107.0018	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
chr16	3645387	3645388	DNASE1	LYS	TER	5	125505.0001	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
chr16	3730400	3730401	CREBBP	ARG	PRO	1378	600140.0003	RUBINSTEIN-TAYBI SYNDROME
chr16	3739632	3739633	CREBBP	GLU	LYS	1278	600140.0006	RUBINSTEIN-TAYBI SYNDROME
chr16	3747895	3747896	CREBBP	TYR	CYS	1175	600140.0005	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE
chr16	3783534	3783535	CREBBP	GLN	TER	357	600140.0002	RUBINSTEIN-TAYBI SYNDROME
chr16	3840690	3840691	CREBBP	GLN	TER	136	600140.0001	RUBINSTEIN-TAYBI SYNDROME
chr16	5065446	5065449	ALG1	SER	ARG	150	605907.0003	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
chr16	5068790	5068791	ALG1	SER	LEU	258	605907.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
chr16	8769605	8769606	ABAT	ARG	LYS	220	137150.0001	GABA-TRANSAMINASE DEFICIENCY
chr16	8799265	8799266	PMM2	CYS	TYR	9	601785.0015	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8803184	8803185	PMM2	LEU	ARG	32	601785.0016	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8803220	8803221	PMM2	VAL	ALA	44	601785.0020	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8806138	8806139	PMM2	ASP	TYR	65	601785.0005	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8807755	8807756	PMM2	PRO	LEU	113	601785.0018	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8812437	8812438	PMM2	GLY	ARG	117	601785.0008	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8812443	8812446	PMM2	PHE	LEU	119	601785.0006	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8812473	8812474	PMM2	VAL	MET	129	601785.0003	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8812483	8812484	PMM2	ILE	THR	132	601785.0013	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8812510	8812511	PMM2	ARG	HIS	141	601785.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8813031	8813032	PMM2	ARG	TRP	162	601785.0004	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8814387	8814388	PMM2	ASP	GLY	188	601785.0007	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8849088	8849089	PMM2	ASN	ILE	216	601785.0002	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8849110	8849111	PMM2	ASP	GLU	223	601785.0009	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8849117	8849120	PMM2	THR	SER	226	601785.0017	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8849132	8849133	PMM2	VAL	MET	231	601785.0014	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8849151	8849152	PMM2	THR	ARG	237	601785.0011	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	8849162	8849165	PMM2	CYS	SER	241	601785.0012	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
chr16	11551049	11551050	LITAF	VAL	MET	144	603795.0005	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C
chr16	11554902	11554903	LITAF	LEU	VAL	122	603795.0004	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C
chr16	11554920	11554921	LITAF	TRP	GLY	116	603795.0003	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C
chr16	11554922	11554923	LITAF	THR	ASN	115	603795.0002	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C
chr16	11554932	11554933	LITAF	GLY	SER	112	603795.0001	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C
chr16	13927987	13927988	ERCC4	ARG	PRO	153	133520.0003	XFE PROGEROID SYNDROME
chr16	15719694	15719695	MYH11	ARG	GLN	1758	160745.0001	AORTIC ANEURYSM, FAMILIAL THORACIC 4
chr16	15728239	15728240	MYH11	ARG	LEU	1275	160745.0004	AORTIC ANEURYSM, FAMILIAL THORACIC 4
chr16	15728272	15728273	MYH11	LEU	PRO	1264	160745.0003	AORTIC ANEURYSM, FAMILIAL THORACIC 4
chr16	15728293	15728294	MYH11	LEU	PRO	1264	160745.0003	AORTIC ANEURYSM, FAMILIAL THORACIC 4
chr16	15749449	15749450	MYH11	ARG	GLN	712	160745.0005	AORTIC ANEURYSM, FAMILIAL THORACIC 4
chr16	16151963	16151964	ABCC6	ARG	CYS	1459	603234.0018	PSEUDOXANTHOMA ELASTICUM
chr16	16156256	16156257	ABCC6	ARG	CYS	1339	603234.0017	PSEUDOXANTHOMA ELASTICUM
chr16	16156310	16156311	ABCC6	GLY	SER	1321	603234.0021	PSEUDOXANTHOMA ELASTICUM
chr16	16156331	16156332	ABCC6	ARG	TRP	1314	603234.0006	PSEUDOXANTHOMA ELASTICUM
chr16	16156367	16156368	ABCC6	GLY	ARG	1302	603234.0020	PSEUDOXANTHOMA ELASTICUM
chr16	16156379	16156380	ABCC6	VAL	PHE	1298	603234.0019	PSEUDOXANTHOMA ELASTICUM
chr16	16159099	16159100	ABCC6	ARG	GLN	1268	603234.0011	PSEUDOXANTHOMA ELASTICUM
chr16	16160862	16160863	ABCC6	ASP	HIS	1238	603234.0022	PSEUDOXANTHOMA ELASTICUM
chr16	16164366	16164367	ABCC6	ARG	TER	1164	603234.0013	PSEUDOXANTHOMA ELASTICUM
chr16	16164435	16164436	ABCC6	ARG	TER	1141	603234.0001	PSEUDOXANTHOMA ELASTICUM
chr16	16164443	16164444	ABCC6	ARG	GLN	1138	603234.0003	PSEUDOXANTHOMA ELASTICUM
chr16	16164444	16164445	ABCC6	ARG	TRP	1138	603234.0012	PSEUDOXANTHOMA ELASTICUM
chr16	16164467	16164468	ABCC6	THR	MET	1130	603234.0024	PSEUDOXANTHOMA ELASTICUM
chr16	16164515	16164516	ABCC6	ARG	PRO	1114	603234.0004	PSEUDOXANTHOMA ELASTICUM
chr16	17471811	17471812	XYLT1	ALA	SER	115	608124.0001	PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
chr16	20267075	20267076	UMOD	CYS	ARG	315	191845.0010	GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
chr16	20267120	20267121	UMOD	CYS	GLY	300	191845.0009	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1
chr16	20267306	20267307	UMOD	VAL	PHE	273	191845.0011	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1
chr16	20267359	20267360	UMOD	CYS	TYR	255	191845.0008	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1
chr16	20267474	20267475	UMOD	CYS	ARG	217	191845.0003	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1
chr16	20267680	20267681	UMOD	CYS	TYR	148	191845.0002	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1
chr16	20267740	20267741	UMOD	ASN	SER	128	191845.0007	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1
chr16	20267747	20267748	UMOD	CYS	ARG	126	191845.0006	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1
chr16	20267816	20267817	UMOD	GLY	CYS	103	191845.0004	MEDULLARY CYSTIC KIDNEY DISEASE 2
chr16	20267893	20267894	UMOD	CYS	TYR	77	191845.0005	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1
chr16	21177602	21177603	CRYM	TER	TYR	315	123740.0001	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC
chr16	21177606	21177607	CRYM	LYS	THR	314	123740.0002	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC
chr16	23108421	23108422	SCNN1G	GLY	SER	183	600761.0005	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
chr16	23108463	23108464	SCNN1G	GLU	LYS	197	600761.0006	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
chr16	23267529	23267530	SCNN1B	GLY	SER	37	600760.0003	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
chr16	23267665	23267666	SCNN1B	SER	CYS	82	600760.0015	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
chr16	23286700	23286701	SCNN1B	PRO	LEU	267	600760.0009	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
chr16	23286763	23286764	SCNN1B	ASN	SER	288	600760.0014	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
chr16	23286780	23286781	SCNN1B	GLY	SER	294	600760.0011	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
chr16	23290657	23290658	SCNN1B	PRO	THR	369	600760.0013	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
chr16	23299314	23299315	SCNN1B	GLU	LYS	539	600760.0012	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
chr16	23299546	23299547	SCNN1B	PRO	LEU	616	600760.0002	LIDDLE SYNDROME
chr16	23299546	23299547	SCNN1B	PRO	ARG	616	600760.0008	LIDDLE SYNDROME
chr16	23522292	23522293	PALB2	TYR	TER	1183	610355.0003	FANCONI ANEMIA, COMPLEMENTATION GROUP N BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
chr16	23541824	23541825	PALB2	GLN	TER	988	610355.0004	FANCONI ANEMIA, COMPLEMENTATION GROUP N BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
chr16	23553714	23553715	PALB2	TYR	TER	551	610355.0001	FANCONI ANEMIA, COMPLEMENTATION GROUP N
chr16	27281680	27281681	IL4R	SER	PRO	503	147781.0003	ATOPY, RESISTANCE TO ASTHMA, SUSCEPTIBILITY TO
chr16	27281900	27281901	IL4R	GLN	ARG	576	147781.0001	ATOPY, SUSCEPTIBILITY TO
chr16	28401321	28401322	CLN3	GLU	LYS	295	607042.0005	CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
chr16	28762829	28762830	TUFM	ARG	GLN	339	602389.0001	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
chr16	28806057	28806058	ATP2A1	ARG	TER	198	108730.0001	BRODY MYOPATHY
chr16	28819662	28819663	ATP2A1	CYS	TER	675	108730.0002	BRODY MYOPATHY
chr16	28821049	28821050	ATP2A1	PRO	LEU	789	108730.0005	BRODY MYOPATHY
chr16	30669961	30669962	PHKG2	ARG	TER	44	172471.0004	GLYCOGEN STORAGE DISEASE IXc
chr16	30670415	30670416	PHKG2	VAL	GLU	106	172471.0003	GLYCOGEN STORAGE DISEASE IXc
chr16	30675012	30675013	PHKG2	GLY	GLU	189	172471.0002	GLYCOGEN STORAGE DISEASE IXc
chr16	30905433	30905434	HSD3B7	GLU	LYS	147	607764.0004	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
chr16	31010064	31010065	VKORC1	LEU	ARG	128	608547.0005	WARFARIN RESISTANCE
chr16	31010155	31010156	VKORC1	ARG	TRP	98	608547.0001	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
chr16	31013379	31013380	VKORC1	ARG	GLY	58	608547.0004	WARFARIN RESISTANCE
chr16	31013417	31013418	VKORC1	VAL	ALA	45	608547.0003	WARFARIN RESISTANCE
chr16	31013445	31013446	VKORC1	ASP	TYR	36	608547.0007	WARFARIN RESISTANCE
chr16	31013466	31013467	VKORC1	VAL	LEU	29	608547.0002	WARFARIN RESISTANCE
chr16	31110229	31110230	FUS	HIS	GLN	517	137070.0001	AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE
chr16	31110231	31110232	FUS	ARG	LYS	518	137070.0003	AMYOTROPHIC LATERAL SCLEROSIS 6
chr16	31110239	31110240	FUS	ARG	GLY	521	137070.0002	AMYOTROPHIC LATERAL SCLEROSIS 6
chr16	31110239	31110240	FUS	ARG	CYS	521	137070.0004	AMYOTROPHIC LATERAL SCLEROSIS 6
chr16	31110240	31110241	FUS	ARG	HIS	521	137070.0005	AMYOTROPHIC LATERAL SCLEROSIS 6
chr16	31110242	31110243	FUS	ARG	GLY	521	137070.0002	AMYOTROPHIC LATERAL SCLEROSIS 6
chr16	31110243	31110244	FUS	ARG	LYS	518	137070.0003	AMYOTROPHIC LATERAL SCLEROSIS 6
chr16	31407738	31407741	SLC5A2	TRP	TER	440	182381.0001	RENAL GLUCOSURIA
chr16	31409298	31409299	SLC5A2	ASN	SER	654	182381.0002	RENAL GLUCOSURIA
chr16	46815698	46815699	ABCC11	GLY	ARG	180	607040.0001	EAR WAX, WET/DRY
chr16	49302322	49302323	NOD2	ARG	TRP	334	605956.0006	BLAU SYNDROME SARCOIDOSIS, EARLY-ONSET, INCLUDED
chr16	49302323	49302324	NOD2	ARG	GLN	334	605956.0004	BLAU SYNDROME
chr16	49302468	49302469	NOD2	ASP	GLU	382	605956.0009	SARCOIDOSIS, EARLY-ONSET
chr16	49302469	49302470	NOD2	GLU	LYS	383	605956.0011	BLAU SYNDROME
chr16	49302727	49302728	NOD2	LEU	PHE	469	605956.0005	BLAU SYNDROME
chr16	49302809	49302810	NOD2	HIS	LEU	496	605956.0008	SARCOIDOSIS, EARLY-ONSET
chr16	49303426	49303427	NOD2	ARG	TRP	702	605956.0003	INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO
chr16	49314040	49314041	NOD2	GLY	ARG	908	605956.0002	INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO
chr16	49383100	49383101	CYLD	GLU	GLY	747	605018.0007	TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 BROOKE-SPIEGLER SYNDROME, INCLUDED
chr16	49384038	49384039	CYLD	ARG	TER	758	605018.0002	CYLINDROMATOSIS, FAMILIAL
chr16	49387854	49387855	CYLD	ARG	TER	936	605018.0008	 BROOKE-SPIEGLER SYNDROME, INCLUDED
chr16	49387854	49387855	CYLD	ARG	TER	936	605018.0008	CYLINDROMATOSIS, FAMILIAL TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, INCLUDED
chr16	49732377	49732378	SALL1	LEU	TER	419	602218.0010	TOWNES-BROCKS SYNDROME HEMIFACIAL MICROSOMIA, INCLUDED
chr16	49732518	49732519	SALL1	SER	TER	372	602218.0002	TOWNES-BROCKS SYNDROME
chr16	49732518	49732519	SALL1	SER	TER	372	602218.0004	TOWNES-BROCKS SYNDROME
chr16	49732666	49732667	SALL1	GLN	TER	323	602218.0009	TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME
chr16	49732807	49732808	SALL1	ARG	TER	276	602218.0003	TOWNES-BROCKS SYNDROME
chr16	52237106	52237107	RPGRIP1L	GLN	TER	872	610937.0007	MECKEL SYNDROME TYPE 5
chr16	52244016	52244017	RPGRIP1L	ALA	PRO	695	610937.0004	JOUBERT SYNDROME 7
chr16	52244049	52244050	RPGRIP1L	GLN	TER	684	610937.0009	JOUBERT SYNDROME 7
chr16	52244256	52244257	RPGRIP1L	THR	PRO	615	610937.0002	JOUBERT SYNDROME 7
chr16	52262992	52262993	RPGRIP1L	GLN	TER	345	610937.0006	MECKEL SYNDROME TYPE 5
chr16	52277864	52277865	RPGRIP1L	GLN	TER	253	610937.0003	JOUBERT SYNDROME 7
chr16	52277924	52277925	RPGRIP1L	LYS	TER	233	610937.0001	JOUBERT SYNDROME 7
chr16	52277936	52277937	RPGRIP1L	ALA	THR	229	610937.0010	RETINITIS PIGMENTOSA IN CILIOPATHIES, MODIFIER OF
chr16	52283613	52283614	RPGRIP1L	ARG	TER	132	610937.0005	MECKEL SYNDROME TYPE 5
chr16	52465249	52465250	FTO	ARG	GLN	316	610966.0001	GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH
chr16	54074469	54074470	MMP2	ARG	HIS	101	120360.0001	TORG-WINCHESTER SYNDROME
chr16	54077089	54077090	MMP2	TYR	TER	244	120360.0002	TORG-WINCHESTER SYNDROME
chr16	54083242	54083243	MMP2	GLU	LYS	404	120360.0003	TORG-WINCHESTER SYNDROME
chr16	54289417	54289418	SLC6A2	ALA	PRO	457	163970.0001	ORTHOSTATIC INTOLERANCE
chr16	54291644	54291645	SLC6A2	ALA	PRO	457	163970.0001	ORTHOSTATIC INTOLERANCE
chr16	54415070	54415071	CES1	GLY	GLU	143	114835.0001	CARBOXYLESTERASE 1 DEFICIENCY
chr16	54415073	54415074	CES1	GLY	GLU	143	114835.0001	CARBOXYLESTERASE 1 DEFICIENCY
chr16	55093866	55093867	BBS2	ARG	TRP	315	606151.0006	BARDET-BIEDL SYNDROME 2
chr16	55094202	55094203	BBS2	ARG	TER	275	606151.0005	BARDET-BIEDL SYNDROME 2
chr16	55097603	55097604	BBS2	ARG	TER	216	606151.0016	BARDET-BIEDL SYNDROME 2
chr16	55102626	55102627	BBS2	GLY	VAL	139	606151.0017	BARDET-BIEDL SYNDROME 2
chr16	55105899	55105900	BBS2	ASP	ALA	104	606151.0009	BARDET-BIEDL SYNDROME 2
chr16	55105986	55105987	BBS2	VAL	GLY	75	606151.0002	BARDET-BIEDL SYNDROME 2
chr16	55106035	55106036	BBS2	GLN	TER	59	606151.0004	BARDET-BIEDL SYNDROME 2
chr16	55111203	55111204	BBS2	TYR	TER	24	606151.0003	BARDET-BIEDL SYNDROME 2
chr16	55459767	55459768	SLC12A3	THR	MET	163	600968.0013	GITELMAN SYNDROME
chr16	55461531	55461532	SLC12A3	ARG	TRP	209	600968.0003	GITELMAN SYNDROME
chr16	55464149	55464150	SLC12A3	PRO	LEU	349	600968.0009	GITELMAN SYNDROME
chr16	55470565	55470566	SLC12A3	CYS	ARG	421	600968.0002	GITELMAN SYNDROME
chr16	55475554	55475555	SLC12A3	ALA	VAL	588	600968.0008	GITELMAN SYNDROME
chr16	55475557	55475558	SLC12A3	ALA	VAL	588	600968.0008	GITELMAN SYNDROME
chr16	55476719	55476720	SLC12A3	LEU	PRO	623	600968.0012	GITELMAN SYNDROME
chr16	55476740	55476741	SLC12A3	GLY	VAL	630	600968.0011	GITELMAN SYNDROME
chr16	55477814	55477815	SLC12A3	ARG	HIS	655	600968.0005	GITELMAN SYNDROME
chr16	55485946	55485947	SLC12A3	LEU	PRO	850	600968.0001	GITELMAN SYNDROME
chr16	55485970	55485971	SLC12A3	LEU	PRO	850	600968.0001	GITELMAN SYNDROME
chr16	55486006	55486007	SLC12A3	ARG	HIS	871	600968.0013	GITELMAN SYNDROME
chr16	56050995	56050996	COQ9	ARG	TER	244	612837.0001	COENZYME Q10 DEFICIENCY
chr16	56242659	56242660	GPR56	ARG	TRP	38	604110.0004	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
chr16	56242810	56242811	GPR56	TYR	CYS	88	604110.0008	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
chr16	56242818	56242821	GPR56	CYS	SER	91	604110.0007	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
chr16	56247656	56247659	GPR56	CYS	SER	346	604110.0005	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
chr16	56253119	56253120	GPR56	ARG	TRP	565	604110.0006	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
chr16	56489317	56489318	CNGB1	GLY	VAL	993	600724.0001	RETINITIS PIGMENTOSA 45
chr16	66027503	66027504	HSD11B2	ARG	CYS	208	218030.0001	APPARENT MINERALOCORTICOID EXCESS
chr16	66027504	66027505	HSD11B2	ARG	HIS	208	218030.0004	APPARENT MINERALOCORTICOID EXCESS
chr16	66027518	66027519	HSD11B2	ARG	CYS	213	218030.0002	APPARENT MINERALOCORTICOID EXCESS
chr16	66027654	66027655	HSD11B2	ASP	ASN	223	218030.0009	APPARENT MINERALOCORTICOID EXCESS
chr16	66027667	66027668	HSD11B2	PRO	LEU	227	218030.0007	HYPERTENSION, MILD LOW-RENIN APPARENT MINERALOCORTICOID EXCESS, MILD, INCLUDED
chr16	66028023	66028024	HSD11B2	ARG	CYS	279	218030.0006	APPARENT MINERALOCORTICOID EXCESS
chr16	66028197	66028198	HSD11B2	ARG	CYS	337	218030.0003	APPARENT MINERALOCORTICOID EXCESS
chr16	66028198	66028199	HSD11B2	ARG	HIS	337	218030.0005	APPARENT MINERALOCORTICOID EXCESS
chr16	66074445	66074446	AGRP	ALA	THR	67	602311.0001	OBESITY, LATE-ONSET LEANNESS, INHERITED
chr16	66533888	66533889	LCAT	LEU	PRO	209	606967.0011	LCAT DEFICIENCY
chr16	67272468	67272469	CDH3	ASN	ILE	322	114021.0003	ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY
chr16	67276691	67276692	CDH3	ARG	HIS	503	114021.0002	HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
chr16	67329709	67329712	CDH1	TRP	TER	20	192090.0009	GASTRIC CANCER, FAMILIAL DIFFUSE
chr16	67329721	67329722	CDH1	GLU	TER	24	192090.0011	GASTRIC CANCER, FAMILIAL DIFFUSE
chr16	67401693	67401694	CDH1	GLU	TER	261	192090.0004	BREAST CANCER, LOBULAR, SOMATIC
chr16	67403262	67403263	CDH1	GLU	ASP	336	192090.0005	GASTRIC CANCER, FAMILIAL DIFFUSE
chr16	67403547	67403548	CDH1	THR	ALA	340	192090.0016	GASTRIC CANCER
chr16	67413484	67413485	CDH1	ARG	TER	598	192090.0012	GASTRIC CANCER, FAMILIAL DIFFUSE
chr16	67413541	67413542	CDH1	ALA	THR	617	192090.0002	ENDOMETRIAL CARCINOMA, SOMATIC GASTRIC CANCER, INCLUDED
chr16	67413593	67413594	CDH1	ALA	VAL	634	192090.0015	GASTRIC CANCER
chr16	67414960	67414961	CDH1	GLN	TER	699	192090.0007	GASTRIC CANCER, FAMILIAL DIFFUSE
chr16	67414996	67414997	CDH1	LEU	VAL	711	192090.0001	ENDOMETRIAL CARCINOMA, SOMATIC
chr16	67424747	67424748	CDH1	VAL	MET	832	192090.0017	GASTRIC CANCER, FAMILIAL DIFFUSE
chr16	67424765	67424766	CDH1	SER	GLY	838	192090.0003	OVARIAN CANCER, SOMATIC
chr16	67756789	67756790	CIRH1A	ARG	TRP	565	607456.0001	NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
chr16	67922470	67922471	COG8	TYR	TER	537	606979.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
chr16	68302531	68302532	NQO1	PRO	SER	187	125860.0001	BENZENE TOXICITY, SUSCEPTIBILITY TO LEUKEMIA, POST-CHEMOTHERAPY, SUSCEPTIBILITY TO, INCLUDED
chr16	68302531	68302532	NQO1	PRO	SER	187	125860.0001	 BREAST CANCER, POST-CHEMOTHERAPY POOR SURVIVAL IN, INCLUDED
chr16	68302645	68302646	NQO1	PRO	SER	187	125860.0001	BENZENE TOXICITY, SUSCEPTIBILITY TO LEUKEMIA, POST-CHEMOTHERAPY, SUSCEPTIBILITY TO, INCLUDED
chr16	68302645	68302646	NQO1	PRO	SER	187	125860.0001	 BREAST CANCER, POST-CHEMOTHERAPY POOR SURVIVAL IN, INCLUDED
chr16	68859759	68859760	AARS	ARG	HIS	329	601065.0001	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N
chr16	70159663	70159664	TAT	ARG	TER	417	613018.0003	TYROSINEMIA, TYPE II
chr16	70161297	70161298	TAT	GLY	VAL	362	613018.0004	TYROSINEMIA, TYPE II
chr16	70163627	70163628	TAT	SER	TER	223	613018.0002	TYROSINEMIA, TYPE II
chr16	70167650	70167651	TAT	ARG	TER	57	613018.0001	TYROSINEMIA, TYPE II
chr16	70603483	70603484	DHODH	GLY	GLU	19	126064.0003	MILLER SYNDROME
chr16	70606040	70606041	DHODH	ARG	CYS	135	126064.0002	MILLER SYNDROME
chr16	70608442	70608443	DHODH	GLY	ARG	152	126064.0004	MILLER SYNDROME
chr16	70612600	70612601	DHODH	ARG	CYS	199	126064.0009	MILLER SYNDROME
chr16	70612610	70612611	DHODH	GLY	ALA	202	126064.0005	MILLER SYNDROME
chr16	70612610	70612611	DHODH	GLY	ASP	202	126064.0006	MILLER SYNDROME
chr16	70613785	70613786	DHODH	ARG	TRP	244	126064.0007	MILLER SYNDROME
chr16	70614935	70614936	DHODH	ARG	TRP	346	126064.0001	MILLER SYNDROME
chr16	70651808	70651809	HP	ILE	THR	247	140100.0005	ANHAPTOGLOBINEMIA
chr16	73366051	73366052	FA2H	ASP	TYR	35	611026.0002	LEUKODYSTROPHY, DYSMYELINATING, WITH SPASTIC PARAPARESIS
chr16	74070400	74070401	CHST6	LEU	PRO	276	605294.0008	MACULAR CORNEAL DYSTROPHY, TYPE I
chr16	74070618	74070619	CHST6	ASP	GLU	203	605294.0002	MACULAR CORNEAL DYSTROPHY, TYPE I
chr16	74070628	74070629	CHST6	LEU	ARG	200	605294.0005	MACULAR CORNEAL DYSTROPHY, TYPE I MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED
chr16	74070706	74070707	CHST6	LYS	ARG	174	605294.0001	MACULAR CORNEAL DYSTROPHY, TYPE I
chr16	74070898	74070899	CHST6	TYR	CYS	110	605294.0007	MACULAR CORNEAL DYSTROPHY, TYPE I
chr16	74070923	74070924	CHST6	CYS	GLY	102	605294.0006	MACULAR CORNEAL DYSTROPHY, TYPE I
chr16	74070950	74070951	CHST6	ARG	SER	93	605294.0009	MACULAR CORNEAL DYSTROPHY, TYPE II
chr16	77023965	77023966	WWOX	LEU	PRO	291	605131.0001	ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
chr16	78190410	78190411	MAF	LYS	ARG	297	177075.0002	CATARACT, CONGENITAL, CERULEAN TYPE, 4
chr16	78190437	78190438	MAF	ARG	PRO	288	177075.0001	CATARACT, PULVERULENT, JUVENILE-ONSET
chr16	79855782	79855783	BCMO1	THR	MET	170	605748.0001	HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT
chr16	79906261	79906262	GAN	ARG	SER	15	605379.0007	GIANT AXONAL NEUROPATHY 1
chr16	79945640	79945641	GAN	ARG	HIS	138	605379.0006	GIANT AXONAL NEUROPATHY 1
chr16	79945732	79945733	GAN	GLU	LYS	169	605379.0009	GIANT AXONAL NEUROPATHY 1
chr16	79945828	79945829	GAN	ARG	TER	201	605379.0004	GIANT AXONAL NEUROPATHY 1
chr16	79956110	79956111	GAN	ILE	THR	423	605379.0005	GIANT AXONAL NEUROPATHY 1
chr16	79956510	79956511	GAN	ARG	TER	477	605379.0008	GIANT AXONAL NEUROPATHY 1
chr16	79956528	79956529	GAN	GLN	TER	483	605379.0002	GIANT AXONAL NEUROPATHY 1
chr16	79956537	79956538	GAN	GLU	LYS	486	605379.0001	GIANT AXONAL NEUROPATHY 1
chr16	82490257	82490258	MLYCD	GLY	ASP	3	606761.0005	MALONYL-CoA DECARBOXYLASE DEFICIENCY
chr16	82490368	82490369	MLYCD	MET	THR	40	606761.0006	MALONYL-CoA DECARBOXYLASE DEFICIENCY
chr16	82745853	82745854	LRRC50	LEU	ARG	175	613190.0005	CILIARY DYSKINESIA, PRIMARY, 13
chr16	82750830	82750831	LRRC50	TYR	TER	264	613190.0003	CILIARY DYSKINESIA, PRIMARY, 13
chr16	82750849	82750850	LRRC50	ARG	TER	271	613190.0002	CILIARY DYSKINESIA, PRIMARY, 13
chr16	85158738	85158739	FOXC2	TYR	TER	99	602402.0001	LYMPHEDEMA-DISTICHIASIS SYNDROME
chr16	85158803	85158804	FOXC2	ARG	HIS	121	602402.0013	LYMPHEDEMA-DISTICHIASIS SYNDROME
chr16	85158815	85158816	FOXC2	SER	LEU	125	602402.0012	LYMPHEDEMA-DISTICHIASIS SYNDROME
chr16	87237382	87237383	CYBA	PRO	GLN	156	608508.0005	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
chr16	87237476	87237477	CYBA	ALA	THR	125	608508.0012	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
chr16	87240041	87240044	CYBA	SER	ARG	118	608508.0004	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
chr16	87240669	87240670	CYBA	HIS	ARG	94	608508.0006	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
chr16	87240681	87240682	CYBA	ARG	GLN	90	608508.0003	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
chr16	87242011	87242012	CYBA	GLY	ARG	24	608508.0010	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
chr16	87244915	87244916	CYBA	GLN	TER	3	608508.0009	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
chr16	87403742	87403743	APRT	MET	THR	136	102600.0003	APRT DEFICIENCY, JAPANESE TYPE
chr16	87404049	87404050	APRT	LEU	PRO	110	102600.0007	APRT DEFICIENCY
chr16	87404360	87404363	APRT	TRP	TER	98	102600.0005	APRT DEFICIENCY DUE TO TYPE I ALLELE
chr16	87404458	87404459	APRT	ASP	VAL	65	102600.0004	APRT DEFICIENCY, COMPLETE, ICELANDIC TYPE
chr16	87411937	87411938	GALNS	ASN	SER	487	612222.0007	MORQUIO SYNDROME A
chr16	87411980	87411981	GALNS	GLN	TER	473	612222.0006	MORQUIO SYNDROME A
chr16	87418761	87418762	GALNS	ARG	CYS	386	612222.0003	MORQUIO SYNDROME A
chr16	87425974	87425977	GALNS	THR	SER	312	612222.0013	MORQUIO SYNDROME A, MILD
chr16	87426007	87426008	GALNS	GLY	CYS	301	612222.0010	MORQUIO SYNDROME A
chr16	87429148	87429149	GALNS	ALA	THR	291	612222.0015	MORQUIO SYNDROME A, MILD
chr16	87429243	87429244	GALNS	ARG	GLN	259	612222.0009	MORQUIO SYNDROME A, MILD
chr16	87429703	87429706	GALNS	TRP	TER	230	612222.0016	MORQUIO SYNDROME A, MILD
chr16	87430130	87430131	GALNS	ASN	LYS	204	612222.0001	MORQUIO SYNDROME A
chr16	87431611	87431612	GALNS	SER	PHE	162	612222.0011	MORQUIO SYNDROME A
chr16	87434985	87434986	GALNS	ILE	PHE	113	612222.0005	MORQUIO SYNDROME A
chr16	87435844	87435845	GALNS	ARG	GLY	94	612222.0008	MORQUIO SYNDROME A
chr16	87436653	87436654	GALNS	PHE	VAL	69	612222.0012	MORQUIO SYNDROME A
chr16	87436680	87436681	GALNS	ASP	ASN	60	612222.0014	MORQUIO SYNDROME A, MILD
chr16	87773459	87773460	CDH15	ARG	CYS	60	114019.0001	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3
chr16	87774180	87774181	CDH15	ARG	TRP	92	114019.0002	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3
chr16	87777463	87777464	CDH15	ALA	VAL	122	114019.0003	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3
chr16	88104447	88104448	SPG7	LEU	TER	78	602783.0007	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
chr16	88147840	88147841	SPG7	SER	THR	692	602783.0006	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
chr16	88404626	88404629	FANCA	TRP	TER	171	607139.0009	FANCONI ANEMIA, COMPLEMENTATION GROUP A
chr16	88513344	88513345	MC1R	VAL	LEU	60	155555.0006	SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN
chr16	88513418	88513419	MC1R	ASP	GLU	84	155555.0003	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
chr16	88513440	88513441	MC1R	VAL	MET	92	155555.0002	SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN, INCLUDED
chr16	88513617	88513618	MC1R	ARG	CYS	151	155555.0004	 OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF, INCLUDED
chr16	88513617	88513618	MC1R	ARG	CYS	151	155555.0004	 PARKINSON DISEASE, SUSCEPTIBILITY TO, INCLUDED
chr16	88513617	88513618	MC1R	ARG	CYS	151	155555.0004	SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC, INCLUDED
chr16	88513636	88513637	MC1R	THR	ILE	157	155555.0008	UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO
chr16	88513641	88513642	MC1R	PRO	THR	159	155555.0009	UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO
chr16	88513644	88513645	MC1R	ARG	TRP	160	155555.0005	 OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF, INCLUDED
chr16	88513644	88513645	MC1R	ARG	TRP	160	155555.0005	SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC, INCLUDED
chr16	88514046	88514047	MC1R	ASP	HIS	294	155555.0001	SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
chr16	88529143	88529144	TUBB3	ARG	CYS	262	602661.0001	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
chr16	88529263	88529264	TUBB3	ALA	THR	302	602661.0002	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
chr16	88529587	88529588	TUBB3	GLU	LYS	410	602661.0005	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
chr16	88529608	88529609	TUBB3	ASP	HIS	417	602661.0003	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
chr16	88529608	88529609	TUBB3	ASP	ASN	417	602661.0004	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
chr17	1500924	1500925	PRPF8	ARG	LYS	2310	607300.0003	RETINITIS PIGMENTOSA 13
chr17	1500927	1500928	PRPF8	HIS	ARG	2309	607300.0001	RETINITIS PIGMENTOSA 13
chr17	1500927	1500928	PRPF8	HIS	PRO	2309	607300.0002	RETINITIS PIGMENTOSA 13
chr17	1500943	1500946	PRPF8	PHE	LEU	2304	607300.0005	RETINITIS PIGMENTOSA 13
chr17	1500952	1500953	PRPF8	PRO	THR	2301	607300.0004	RETINITIS PIGMENTOSA 13
chr17	2488353	2488354	PAFAH1B1	ARG	TER	8	601545.0009	SUBCORTICAL LAMINAR HETEROTOPIA LISSENCEPHALY 1
chr17	2515474	2515475	PAFAH1B1	PHE	SER	31	601545.0006	LISSENCEPHALY 1
chr17	2520252	2520253	PAFAH1B1	HIS	ARG	149	601545.0001	LISSENCEPHALY 1
chr17	2520290	2520291	PAFAH1B1	GLY	SER	162	601545.0007	LISSENCEPHALY 1
chr17	2520311	2520312	PAFAH1B1	SER	PRO	169	601545.0004	SUBCORTICAL LAMINAR HETEROTOPIA
chr17	2524153	2524154	PAFAH1B1	ARG	PRO	241	601545.0008	SUBCORTICAL LAMINAR HETEROTOPIA
chr17	2524248	2524249	PAFAH1B1	ARG	TER	273	601545.0002	LISSENCEPHALY 1
chr17	2524261	2524262	PAFAH1B1	HIS	PRO	277	601545.0010	LISSENCEPHALY 1
chr17	2526596	2526597	PAFAH1B1	ASP	HIS	317	601545.0005	LISSENCEPHALY 1
chr17	3326273	3326274	ASPA	GLU	GLY	24	608034.0010	CANAVAN DISEASE
chr17	3326414	3326415	ASPA	ARG	HIS	71	608034.0012	CANAVAN DISEASE, MILD
chr17	3333563	3333564	ASPA	CYS	ARG	152	608034.0002	CANAVAN DISEASE
chr17	3344412	3344413	ASPA	CYS	TER	218	608034.0004	CANAVAN DISEASE
chr17	3344450	3344451	ASPA	TYR	CYS	231	608034.0008	CANAVAN DISEASE
chr17	3344451	3344452	ASPA	TYR	TER	231	608034.0005	CANAVAN DISEASE
chr17	3348935	3348936	ASPA	ASP	VAL	249	608034.0011	CANAVAN DISEASE
chr17	3349043	3349044	ASPA	GLU	ALA	285	608034.0001	CANAVAN DISEASE
chr17	3349103	3349104	ASPA	ALA	GLU	305	608034.0003	CANAVAN DISEASE
chr17	3497548	3497549	CTNS	VAL	ILE	42	606272.0007	CYSTINOSIS, ATYPICAL NEPHROPATHIC
chr17	3505097	3505098	CTNS	GLY	TER	95	606272.0001	CYSTINOSIS, NEPHROPATHIC
chr17	3505143	3505144	CTNS	GLY	VAL	110	606272.0017	CYSTINOSIS, ATYPICAL NEPHROPATHIC
chr17	3505345	3505348	CTNS	TRP	TER	138	606272.0003	CYSTINOSIS, NEPHROPATHIC
chr17	3505349	3505350	CTNS	SER	PHE	139	606272.0018	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED
chr17	3506573	3506574	CTNS	GLY	ASP	169	606272.0006	CYSTINOSIS, NEPHROPATHIC
chr17	3506745	3506746	CTNS	GLY	ARG	197	606272.0011	CYSTINOSIS, OCULAR NONNEPHROPATHIC
chr17	3510016	3510017	CTNS	ASN	LYS	323	606272.0016	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
chr17	3510322	3510323	CTNS	GLY	ARG	339	606272.0015	CYSTINOSIS, NEPHROPATHIC
chr17	4799137	4799138	ENO3	GLY	ASP	156	131370.0001	GLYCOGEN STORAGE DISEASE XIII
chr17	4800644	4800645	ENO3	GLY	GLU	374	131370.0002	GLYCOGEN STORAGE DISEASE XIII
chr17	5426090	5426091	NLRP1	LEU	HIS	155	606636.0001	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1
chr17	6269826	6269829	AIPL1	TRP	TER	278	604392.0001	LEBER CONGENITAL AMAUROSIS 4
chr17	6270727	6270728	AIPL1	CYS	ARG	239	604392.0003	LEBER CONGENITAL AMAUROSIS 4
chr17	6312280	6312281	PITPNM3	GLN	HIS	626	608921.0001	CONE-ROD DYSTROPHY 5
chr17	7064561	7064562	ACADVL	PRO	LEU	65	609575.0011	VLCAD DEFICIENCY
chr17	7066110	7066111	ACADVL	LYS	GLN	247	609575.0011	VLCAD DEFICIENCY
chr17	7067241	7067242	ACADVL	LYS	GLN	382	609575.0008	VLCAD DEFICIENCY
chr17	7067749	7067750	ACADVL	ALA	THR	416	609575.0013	VLCAD DEFICIENCY
chr17	7068026	7068027	ACADVL	ARG	HIS	450	609575.0014	VLCAD DEFICIENCY
chr17	7068049	7068052	ACADVL	PHE	LEU	458	609575.0012	VLCAD DEFICIENCY
chr17	7069008	7069009	ACADVL	ARG	TRP	613	609575.0003	VLCAD DEFICIENCY
chr17	7129771	7129772	SLC2A4	VAL	ILE	383	138190.0001	DIABETES MELLITUS, NONINSULIN-DEPENDENT
chr17	7427905	7427906	MPDU1	MET	THR	1	604041.0003	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
chr17	7430035	7430036	MPDU1	GLY	GLU	73	604041.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
chr17	7430038	7430039	MPDU1	LEU	SER	74	604041.0005	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
chr17	7430786	7430787	MPDU1	LEU	PRO	119	604041.0002	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
chr17	7514720	7514721	TP53	LEU	PRO	344	191170.0031	LI-FRAUMENI SYNDROME 1
chr17	7514741	7514742	TP53	ARG	HIS	337	191170.0035	ADRENOCORTICAL CARCINOMA, PEDIATRIC
chr17	7517596	7517597	TP53	GLY	VAL	325	191170.0021	NON-HODGKIN LYMPHOMA COLON CANCER, INCLUDED
chr17	7517787	7517788	TP53	LYS	ILE	292	191170.0034	LI-FRAUMENI SYNDROME 1
chr17	7517787	7517788	TP53	ARG	HIS	337	191170.0035	ADRENOCORTICAL CARCINOMA, PEDIATRIC
chr17	7517808	7517809	TP53	GLU	VAL	285	191170.0040	ADRENOCORTICAL CARCINOMA, PEDIATRIC CHOROID PLEXUS CARCINOMA, INCLUDED
chr17	7517818	7517819	TP53	ARG	TRP	282	191170.0018	OSTEOSARCOMA
chr17	7517823	7517824	TP53	ARG	THR	280	191170.0024	NASOPHARYNGEAL CARCINOMA, SOMATIC
chr17	7517844	7517845	TP53	ARG	HIS	273	191170.0020	LI-FRAUMENI SYNDROME 1 THYROID CARCINOMA, ANAPLASTIC, SOMATIC, INCLUDED
chr17	7517848	7517849	TP53	VAL	LEU	272	191170.0012	LI-FRAUMENI SYNDROME 1
chr17	7518233	7518234	TP53	GLU	LYS	258	191170.0002	LI-FRAUMENI SYNDROME 1
chr17	7518235	7518236	TP53	LEU	GLN	257	191170.0028	OSTEOSARCOMA
chr17	7518250	7518251	TP53	LEU	PRO	252	191170.0004	LI-FRAUMENI SYNDROME 1
chr17	7518258	7518259	TP53	ARG	SER	249	191170.0006	HEPATOCELLULAR CARCINOMA, SOMATIC CERVICAL CANCER, SOMATIC, INCLUDED
chr17	7518262	7518263	TP53	ARG	GLN	248	191170.0010	LI-FRAUMENI SYNDROME 1
chr17	7518263	7518264	TP53	ARG	TRP	248	191170.0001	LI-FRAUMENI SYNDROME 1
chr17	7518271	7518272	TP53	GLY	ASP	245	191170.0009	LI-FRAUMENI SYNDROME 1
chr17	7518272	7518273	TP53	GLY	CYS	245	191170.0003	LI-FRAUMENI SYNDROME 1
chr17	7518272	7518273	TP53	GLY	SER	245	191170.0019	OSTEOSARCOMA
chr17	7518280	7518281	TP53	CYS	TYR	242	191170.0008	EPENDYMOMA, INTRACRANIAL
chr17	7518283	7518284	TP53	SER	PHE	241	191170.0013	HEPATOBLASTOMA OSTEOSARCOMA, INCLUDED
chr17	7518914	7518915	TP53	TYR	SER	220	191170.0039	LI-FRAUMENI SYNDROME 1
chr17	7519007	7519008	TP53	ALA	VAL	189	191170.0038	COLORECTAL CANCER
chr17	7519130	7519131	TP53	ARG	HIS	175	191170.0030	LI-FRAUMENI SYNDROME 1
chr17	7519185	7519186	TP53	VAL	PHE	157	191170.0007	HEPATOCELLULAR CARCINOMA, SOMATIC
chr17	7519203	7519204	TP53	PRO	THR	151	191170.0025	BREAST CANCER, SOMATIC
chr17	7519203	7519204	TP53	PRO	SER	151	191170.0026	BREAST CANCER, SOMATIC
chr17	7519242	7519243	TP53	ALA	PRO	138	191170.0032	LI-FRAUMENI SYNDROME 1
chr17	7519256	7519257	TP53	MET	THR	133	191170.0011	LI-FRAUMENI SYNDROME 1
chr17	7520053	7520054	TP53	LYS	TER	120	191170.0017	 GLIOMA OF BRAIN, INCLUDED
chr17	7520053	7520054	TP53	LYS	TER	120	191170.0017	OSTEOSARCOMA ADENOCARCINOMA OF LUNG, INCLUDED
chr17	7520196	7520197	TP53	PRO	ARG	72	191170.0005	CODON 72 POLYMORPHISM
chr17	7520306	7520307	TP53	LEU	PHE	35	191170.0027	PANCREATIC CANCER, SOMATIC
chr17	7847243	7847244	GUCY2D	ALA	SER	52	600179.0004	LEBER CONGENITAL AMAUROSIS, TYPE I
chr17	7853573	7853574	GUCY2D	PHE	SER	565	600179.0001	LEBER CONGENITAL AMAUROSIS, TYPE I
chr17	7858741	7858742	GUCY2D	GLU	ASP	837	600179.0005	CONE-ROD DYSTROPHY 6
chr17	7858741	7858742	GUCY2D	GLU	ASP	837	600179.0007	CONE-ROD DYSTROPHY 6
chr17	7858742	7858743	GUCY2D	ARG	SER	838	600179.0005	CONE-ROD DYSTROPHY 6
chr17	7858742	7858743	GUCY2D	ARG	CYS	838	600179.0006	CONE-ROD DYSTROPHY 6
chr17	7858742	7858743	GUCY2D	ARG	CYS	838	600179.0007	CONE-ROD DYSTROPHY 6
chr17	7858743	7858744	GUCY2D	ARG	HIS	838	600179.0008	CONE-ROD DYSTROPHY 6
chr17	7858746	7858747	GUCY2D	THR	MET	839	600179.0007	CONE-ROD DYSTROPHY 6
chr17	7917720	7917721	ALOX12B	HIS	GLN	578	603741.0003	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1
chr17	7920784	7920785	ALOX12B	LEU	PRO	426	603741.0002	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1
chr17	7953280	7953281	ALOXE3	VAL	PHE	500	607206.0001	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1
chr17	7954253	7954254	ALOXE3	ARG	SER	396	607206.0003	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1
chr17	7956210	7956211	ALOXE3	LEU	MET	237	607206.0004	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1
chr17	7956219	7956220	ALOXE3	ARG	TER	234	607206.0002	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1
chr17	10250965	10250966	MYH8	ARG	GLN	674	160741.0001	CARNEY COMPLEX VARIANT TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, INCLUDED
chr17	10250965	10250966	ERBB2	LEU	PRO	755	164870.0005	ADENOCARCINOMA OF LUNG, SOMATIC
chr17	10379178	10379179	MYH2	GLU	LYS	706	160740.0001	INCLUSION BODY MYOPATHY 3
chr17	10484245	10484246	MYH3	VAL	ASP	825	160720.0004	ARTHROGRYPOSIS, DISTAL, TYPE 2A
chr17	10485358	10485359	MYH3	ARG	HIS	672	160720.0001	ARTHROGRYPOSIS, DISTAL, TYPE 2A
chr17	10485359	10485360	MYH3	ARG	CYS	672	160720.0002	ARTHROGRYPOSIS, DISTAL, TYPE 2A
chr17	10488417	10488418	MYH3	ASP	GLY	462	160720.0007	ARTHROGRYPOSIS, DISTAL, TYPE 2B
chr17	10489766	10489767	MYH3	GLU	LYS	375	160720.0006	ARTHROGRYPOSIS, DISTAL, TYPE 2B
chr17	10492633	10492634	MYH3	ALA	THR	234	160720.0008	ARTHROGRYPOSIS, DISTAL, TYPE 2B
chr17	10494415	10494416	MYH3	THR	ILE	178	160720.0003	ARTHROGRYPOSIS, DISTAL, TYPE 2A ARTHROGRYPOSIS, DISTAL, TYPE 2B, INCLUDED
chr17	10536846	10536847	SCO1	PRO	LEU	174	603644.0002	HEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO CYTOCHROME c OXIDASE DEFICIENCY
chr17	12836998	12836999	ELAC2	ARG	HIS	781	605367.0004	PROSTATE CANCER, SUSCEPTIBILITY TO
chr17	12839047	12839048	ELAC2	GLU	VAL	622	605367.0005	PROSTATE CANCER, SUSCEPTIBILITY TO
chr17	12840626	12840627	ELAC2	ALA	THR	541	605367.0002	PROSTATE CANCER, SUSCEPTIBILITY TO
chr17	12840626	12840627	ELAC2	ARG	HIS	781	605367.0004	PROSTATE CANCER, SUSCEPTIBILITY TO
chr17	12855733	12855734	ELAC2	SER	LEU	217	605367.0001	PROSTATE CANCER, SUSCEPTIBILITY TO
chr17	13946246	13946247	COX10	THR	LYS	196	602125.0002	MITOCHONDRIAL COMPLEX IV DEFICIENCY
chr17	13946271	13946272	COX10	ASN	LYS	204	602125.0001	MITOCHONDRIAL COMPLEX IV DEFICIENCY ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
chr17	14003967	14003968	COX10	PRO	LEU	225	602125.0003	MITOCHONDRIAL COMPLEX IV DEFICIENCY
chr17	14050929	14050930	COX10	ASP	VAL	336	602125.0004	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
chr17	14050929	14050930	COX10	ASP	GLY	336	602125.0005	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
chr17	15074972	15074973	PMP22	ARG	TRP	157	601097.0018	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE
chr17	15074993	15074994	PMP22	GLY	CYS	150	601097.0013	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
chr17	15075088	15075089	PMP22	THR	MET	118	601097.0005	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES, INCLUDED
chr17	15083595	15083596	PMP22	SER	CYS	79	601097.0003	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A
chr17	15083616	15083617	PMP22	SER	LEU	72	601097.0007	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
chr17	15083625	15083626	PMP22	MET	LYS	69	601097.0006	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
chr17	15083632	15083633	PMP22	ALA	PRO	67	601097.0010	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
chr17	15083632	15083633	PMP22	ALA	THR	67	601097.0017	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES
chr17	15103203	15103204	PMP22	ASP	VAL	37	601097.0016	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS
chr17	15103231	15103232	PMP22	TRP	ARG	28	601097.0014	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
chr17	15104704	15104705	PMP22	SER	PHE	22	601097.0019	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, INCLUDED
chr17	15104722	15104723	PMP22	LEU	PRO	16	601097.0002	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A
chr17	15104733	15104734	PMP22	HIS	GLN	12	601097.0008	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
chr17	16784390	16784391	TNFRSF13B	ARG	HIS	202	604907.0003	COMMON VARIABLE IMMUNODEFICIENCY
chr17	16784390	16784391	TNFRSF13B	SER	TER	194	604907.0005	COMMON VARIABLE IMMUNODEFICIENCY
chr17	16784453	16784454	TNFRSF13B	ALA	GLU	181	604907.0002	COMMON VARIABLE IMMUNODEFICIENCY
chr17	16792790	16792791	TNFRSF13B	SER	TER	144	604907.0006	COMMON VARIABLE IMMUNODEFICIENCY
chr17	16792911	16792912	TNFRSF13B	CYS	ARG	104	604907.0001	COMMON VARIABLE IMMUNODEFICIENCY IMMUNOGLOBULIN A DEFICIENCY, INCLUDED
chr17	17059266	17059267	FLCN	TYR	TER	463	607273.0005	BIRT-HOGG-DUBE SYNDROME
chr17	17059322	17059323	FLCN	ALA	THR	445	607273.0008	COLORECTAL CANCER, SOMATIC
chr17	17071940	17071941	FLCN	SER	TRP	79	607273.0007	COLORECTAL CANCER, SOMATIC
chr17	17641671	17641672	RAI1	GLN	ARG	1562	607642.0005	SMITH-MAGENIS SYNDROME
chr17	17642409	17642410	RAI1	SER	ASN	1808	607642.0004	SMITH-MAGENIS SYNDROME
chr17	17872314	17872315	ATPAF2	TRP	ARG	94	608918.0001	ENCEPHALOCARDIOMYOPATHY, NEONATAL, MITOCHONDRIAL, DUE TO ATP SYNTHASE DEFICIENCY
chr17	17966151	17966152	MYO15A	GLU	TER	1105	602666.0008	DEAFNESS, AUTOSOMAL RECESSIVE 3
chr17	17968596	17968597	MYO15A	GLN	TER	1229	602666.0004	DEAFNESS, AUTOSOMAL RECESSIVE 3
chr17	17985142	17985143	MYO15A	GLY	VAL	1831	602666.0010	DEAFNESS, AUTOSOMAL RECESSIVE 3
chr17	17992171	17992172	MYO15A	THR	ILE	2205	602666.0007	DEAFNESS, WITH SMITH-MAGENIS SYNDROME
chr17	17998228	17998229	MYO15A	GLN	HIS	2716	602666.0006	DEAFNESS, AUTOSOMAL RECESSIVE 3
chr17	19500439	19500440	ALDH3A2	CYS	TYR	214	609523.0004	SJOGREN-LARSSON SYNDROME
chr17	19501766	19501767	ALDH3A2	LYS	ASN	266	609523.0008	SJOGREN-LARSSON SYNDROME
chr17	19505173	19505174	ALDH3A2	ALA	GLY	314	609523.0003	SJOGREN-LARSSON SYNDROME
chr17	19507239	19507240	ALDH3A2	PRO	ALA	315	609523.0003	SJOGREN-LARSSON SYNDROME
chr17	19507239	19507240	ALDH3A2	PRO	SER	315	609523.0005	SJOGREN-LARSSON SYNDROME
chr17	19508901	19508902	ALDH3A2	ASN	SER	386	609523.0009	SJOGREN-LARSSON SYNDROME
chr17	19753132	19753133	AKAP10	ILE	VAL	646	604694.0001	CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO
chr17	23753421	23753422	SLC46A1	ARG	TRP	376	611672.0005	FOLATE MALABSORPTION, HEREDITARY
chr17	23755889	23755892	SLC46A1	SER	ARG	318	611672.0004	FOLATE MALABSORPTION, HEREDITARY
chr17	23756504	23756505	SLC46A1	ARG	SER	113	611672.0003	FOLATE MALABSORPTION, HEREDITARY
chr17	23756504	23756505	SLC46A1	ARG	CYS	113	611672.0006	FOLATE MALABSORPTION, HEREDITARY
chr17	23880301	23880302	FOXN1	ARG	TER	255	600838.0001	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
chr17	24089865	24089866	NEK8	HIS	TYR	425	609799.0001	NEPHRONOPHTHISIS 9
chr17	25562499	25562500	SLC6A4	ILE	VAL	425	182138.0002	OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO
chr17	25600201	25600202	BLMH	ILE	VAL	443	602403.0001	BLEOMYCIN HYDROLASE POLYMORPHISM
chr17	26348432	26348433	RNF135	GLN	TER	243	611358.0001	OVERGROWTH SYNDROME, RNF135-RELATED
chr17	26349892	26349893	RNF135	ARG	HIS	286	611358.0004	OVERGROWTH SYNDROME, RNF135-RELATED
chr17	26552187	26552188	NF1	LEU	PRO	357	613113.0038	NEUROFIBROMATOSIS, TYPE I NEUROFIBROMATOSIS, FAMILIAL SPINAL, INCLUDED
chr17	26565667	26565668	NF1	TYR	CYS	489	613113.0023	NEUROFIBROMATOSIS, TYPE I
chr17	26565724	26565725	NF1	LEU	PRO	508	613113.0024	NEUROFIBROMATOSIS, TYPE I
chr17	26580289	26580290	NF1	LEU	ARG	844	613113.0043	NEUROFIBROMATOSIS, TYPE I
chr17	26581516	26581517	NF1	MET	ARG	1035	613113.0015	NEUROFIBROMATOSIS, TYPE I
chr17	26586766	26586767	NF1	ARG	TER	1241	613113.0031	NEUROFIBROMATOSIS, TYPE I
chr17	26586773	26586774	NF1	LEU	PRO	1243	613113.0041	NEUROFIBROMATOSIS, TYPE I
chr17	26586872	26586873	NF1	ARG	PRO	1276	613113.0022	NEUROFIBROMATOSIS, TYPE I
chr17	26600173	26600174	NF1	GLN	TER	1341	613113.0026	NEUROFIBROMATOSIS, TYPE I
chr17	26600236	26600237	NF1	ARG	TER	1362	613113.0027	NEUROFIBROMATOSIS, TYPE I
chr17	26609549	26609550	NF1	ARG	SER	1391	613113.0016	NEUROFIBROMATOSIS, TYPE I
chr17	26609643	26609644	NF1	LYS	GLU	1423	613113.0005	NEUROFIBROMATOSIS, TYPE I
chr17	26612951	26612954	NF1	TRP	TER	1538	613113.0019	LEUKEMIA, JUVENILE MYELOMONOCYTIC
chr17	26681602	26681603	NF1	GLU	TER	1904	613113.0042	NEUROFIBROMATOSIS, TYPE I
chr17	26686070	26686071	NF1	ARG	TER	1947	613113.0012	NEUROFIBROMATOSIS, TYPE I
chr17	26687893	26687894	NF1	LEU	PRO	2067	613113.0028	NEUROFIBROMATOSIS, FAMILIAL SPINAL
chr17	26688573	26688574	NF1	LEU	MET	2143	613113.0008	NEUROFIBROMATOSIS, TYPE I
chr17	30927034	30927035	PEX12	SER	PHE	320	601758.0006	PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3
chr17	30927044	30927045	PEX12	LEU	PHE	317	601758.0010	PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3
chr17	30927302	30927303	PEX12	LYS	TER	231	601758.0004	PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3
chr17	30928311	30928312	PEX12	ARG	TER	180	601758.0005	PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3
chr17	30928576	30928577	PEX12	ARG	SER	91	601758.0009	PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3
chr17	33135241	33135244	HNF1B	SER	ARG	465	189907.0007	DIABETES MELLITUS, NONINSULIN-DEPENDENT
chr17	33165917	33165918	HNF1B	ARG	TER	276	189907.0006	RENAL CYSTS AND DIABETES SYNDROME
chr17	33173558	33173559	HNF1B	ARG	TER	177	189907.0001	RENAL CYSTS AND DIABETES SYNDROME
chr17	33173593	33173594	HNF1B	ARG	HIS	165	189907.0014	RENAL CYSTS AND DIABETES SYNDROME RENAL CELL CARCINOMA, CHROMOPHOBE, SUSCEPTIBILITY TO
chr17	33173644	33173645	HNF1B	SER	TRP	148	189907.0011	RENAL CYSTS AND DIABETES SYNDROME
chr17	33178687	33178688	HNF1B	GLU	TER	101	189907.0004	RENAL CYSTS AND DIABETES SYNDROME
chr17	35075540	35075541	TCAP	GLN	TER	53	604488.0001	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G
chr17	35075643	35075644	TCAP	ARG	GLN	87	604488.0003	CARDIOMYOPATHY, DILATED, 1N
chr17	35134522	35134523	ERBB2	GLY	SER	776	164870.0007	GASTRIC CANCER, SOMATIC
chr17	35134550	35134551	ERBB2	LEU	PRO	755	164870.0005	ADENOCARCINOMA OF LUNG, SOMATIC
chr17	35134903	35134904	ERBB2	ASN	SER	857	164870.0008	OVARIAN CANCER, SOMATIC
chr17	35135499	35135500	ERBB2	GLU	LYS	914	164870.0006	GLIOBLASTOMA, SOMATIC
chr17	36229352	36229353	KRT10	LYS	GLU	439	148080.0012	EPIDERMOLYTIC HYPERKERATOSIS
chr17	36231896	36231897	KRT10	ARG	HIS	156	148080.0003	EPIDERMOLYTIC HYPERKERATOSIS
chr17	36231897	36231898	KRT10	ARG	CYS	156	148080.0010	EPIDERMOLYTIC HYPERKERATOSIS
chr17	36231914	36231915	KRT10	MET	ARG	150	148080.0011	EPIDERMOLYTIC HYPERKERATOSIS
chr17	36231914	36231915	KRT10	MET	THR	150	148080.0013	EPIDERMOLYTIC HYPERKERATOSIS
chr17	36272931	36272932	KRT12	TYR	ASP	429	601687.0005	MEESMANN CORNEAL DYSTROPHY
chr17	36276537	36276538	KRT12	VAL	LEU	143	601687.0002	MEESMANN CORNEAL DYSTROPHY
chr17	36276545	36276546	KRT12	LEU	ARG	140	601687.0006	MEESMANN CORNEAL DYSTROPHY
chr17	36276560	36276561	KRT12	ARG	THR	135	601687.0001	MEESMANN CORNEAL DYSTROPHY
chr17	36276560	36276561	KRT12	ARG	ILE	135	601687.0004	MEESMANN CORNEAL DYSTROPHY
chr17	36276561	36276562	KRT12	ARG	GLY	135	601687.0003	MEESMANN CORNEAL DYSTROPHY
chr17	36276578	36276579	KRT12	MET	THR	129	601687.0007	MEESMANN CORNEAL DYSTROPHY
chr17	36981255	36981256	KRT9	GLN	PRO	172	607606.0002	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
chr17	36981259	36981260	KRT9	VAL	MET	171	607606.0011	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
chr17	36981267	36981268	KRT9	LEU	SER	168	607606.0008	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
chr17	36981282	36981283	KRT9	ARG	GLN	163	607606.0005	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
chr17	36981283	36981284	KRT9	ARG	TRP	163	607606.0001	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS, INCLUDED
chr17	36981287	36981288	KRT9	ASN	LYS	161	607606.0004	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
chr17	36981288	36981289	KRT9	ASN	SER	161	607606.0007	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
chr17	36981288	36981289	KRT9	ASN	ILE	161	607606.0013	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
chr17	36981289	36981290	KRT9	ASN	TYR	161	607606.0003	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
chr17	36981292	36981293	KRT9	LEU	VAL	160	607606.0009	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
chr17	36981292	36981293	KRT9	LEU	PHE	160	607606.0012	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
chr17	36981300	36981301	KRT9	MET	THR	157	607606.0010	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
chr17	36981301	36981302	KRT9	MET	VAL	157	607606.0006	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
chr17	36993022	36993023	KRT14	GLU	LYS	422	148066.0013	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
chr17	36993030	36993031	KRT14	LEU	GLN	419	148066.0012	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
chr17	36993043	36993044	KRT14	TYR	HIS	415	148066.0011	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
chr17	36993135	36993136	KRT14	LEU	PRO	384	148066.0001	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
chr17	36993649	36993650	KRT14	MET	ARG	272	148066.0007	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
chr17	36994187	36994188	KRT14	TYR	TER	204	148066.0006	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE
chr17	36996181	36996182	KRT14	GLU	ALA	144	148066.0004	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE
chr17	36996238	36996239	KRT14	ARG	HIS	125	148066.0003	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
chr17	36996239	36996240	KRT14	ARG	CYS	125	148066.0002	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
chr17	36996244	36996245	KRT14	ASN	SER	123	148066.0018	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
chr17	36996255	36996256	KRT14	MET	ILE	119	148066.0010	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE, INCLUDED
chr17	36996256	36996257	KRT14	MET	THR	119	148066.0009	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
chr17	36996558	36996559	KRT14	CYS	TER	18	148066.0016	DERMATOPATHIA PIGMENTOSA RETICULARIS
chr17	37020326	37020327	KRT16	LYS	ASN	354	148067.0008	PACHYONYCHIA CONGENITA TARDA, TYPE 1
chr17	37022083	37022084	KRT16	LEU	GLN	128	148067.0010	PACHYONYCHIA CONGENITA, TYPE 1
chr17	37022086	37022087	KRT16	ARG	PRO	127	148067.0005	PACHYONYCHIA CONGENITA, TYPE 1
chr17	37022095	37022096	KRT16	LEU	ARG	124	148067.0007	PACHYONYCHIA CONGENITA, TYPE 1
chr17	37022098	37022099	KRT16	ASN	SER	123	148067.0003	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL
chr17	37022101	37022102	KRT16	GLN	PRO	122	148067.0006	PACHYONYCHIA CONGENITA, TYPE 1
chr17	37022104	37022105	KRT16	MET	THR	121	148067.0009	PACHYONYCHIA CONGENITA, TYPE 1
chr17	37033983	37033984	KRT17	VAL	MET	102	148069.0014	PACHYONYCHIA CONGENITA, TYPE 2
chr17	37033991	37033992	KRT17	LEU	PRO	99	148069.0013	PACHYONYCHIA CONGENITA, TYPE 2
chr17	37033995	37033996	KRT17	TYR	ASP	98	148069.0003	PACHYONYCHIA CONGENITA, TYPE 2
chr17	37034003	37034004	KRT17	LEU	GLN	95	148069.0010	PACHYONYCHIA CONGENITA, TYPE 2
chr17	37034003	37034004	KRT17	LEU	PRO	95	148069.0011	PACHYONYCHIA CONGENITA, TYPE 2
chr17	37034006	37034007	KRT17	ARG	HIS	94	148069.0005	STEATOCYSTOMA MULTIPLEX PACHYONYCHIA CONGENITA, TYPE 2, INCLUDED
chr17	37034006	37034007	KRT17	ARG	PRO	94	148069.0009	PACHYONYCHIA CONGENITA, TYPE 2
chr17	37034007	37034008	KRT17	ARG	CYS	94	148069.0006	STEATOCYSTOMA MULTIPLEX PACHYONYCHIA CONGENITA, TYPE 2, INCLUDED
chr17	37034012	37034013	KRT17	ASN	SER	92	148069.0002	PACHYONYCHIA CONGENITA, TYPE 2
chr17	37034013	37034014	KRT17	ASN	ASP	92	148069.0001	PACHYONYCHIA CONGENITA, TYPE 2
chr17	37034013	37034014	KRT17	ASN	HIS	92	148069.0004	STEATOCYSTOMA MULTIPLEX
chr17	37034024	37034025	KRT17	MET	THR	88	148069.0007	PACHYONYCHIA CONGENITA, TYPE 2
chr17	37590046	37590047	HCRT	LEU	ARG	16	602358.0001	NARCOLEPSY
chr17	37615732	37615733	STAT5B	ALA	PRO	630	604260.0001	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
chr17	37629021	37629022	STAT5B	ARG	TER	152	604260.0004	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
chr17	37728017	37728018	STAT3	VAL	MET	637	102582.0006	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
chr17	37734966	37734967	STAT3	ARG	GLN	423	102582.0004	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
chr17	37735185	37735186	STAT3	ARG	GLN	382	102582.0003	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
chr17	37735186	37735187	STAT3	ARG	TRP	382	102582.0002	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
chr17	37941957	37941960	NAGLU	PHE	LEU	48	609701.0010	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37944234	37944235	NAGLU	ARG	CYS	234	609701.0013	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37946617	37946618	NAGLU	ARG	TER	297	609701.0003	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37946668	37946671	NAGLU	PHE	LEU	314	609701.0011	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37948993	37948994	NAGLU	ARG	TRP	482	609701.0012	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37949111	37949112	NAGLU	PRO	LEU	521	609701.0007	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37949242	37949243	NAGLU	ARG	TRP	565	609701.0008	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37949243	37949244	NAGLU	ARG	PRO	565	609701.0009	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37949425	37949426	NAGLU	ARG	TER	626	609701.0002	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37949476	37949477	NAGLU	ARG	CYS	643	609701.0006	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37949477	37949478	NAGLU	ARG	HIS	643	609701.0004	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	37949570	37949571	NAGLU	ARG	HIS	674	609701.0001	MUCOPOLYSACCHARIDOSIS TYPE IIIB
chr17	38193028	38193029	WNK4	GLU	LYS	562	601844.0002	PSEUDOHYPOALDOSTERONISM, TYPE IIB
chr17	38193035	38193036	WNK4	ASP	ALA	564	601844.0003	PSEUDOHYPOALDOSTERONISM, TYPE IIB
chr17	38193037	38193038	WNK4	GLN	GLU	565	601844.0001	PSEUDOHYPOALDOSTERONISM, TYPE IIB
chr17	38201787	38201788	WNK4	ARG	CYS	1185	601844.0004	PSEUDOHYPOALDOSTERONISM, TYPE IIB
chr17	38306531	38306532	G6PC	ASP	VAL	38	232200.0006	GLYCOGEN STORAGE DISEASE Ia
chr17	38306647	38306648	G6PC	TRP	ARG	77	232200.0007	GLYCOGEN STORAGE DISEASE Ia
chr17	38309489	38309490	G6PC	ARG	CYS	83	232200.0002	GLYCOGEN STORAGE DISEASE Ia
chr17	38309490	38309491	G6PC	ARG	HIS	83	232200.0013	GLYCOGEN STORAGE DISEASE Ia
chr17	38309490	38309491	G6PC	ILE	ASP	341	232200.0013	GLYCOGEN STORAGE DISEASE Ia
chr17	38309570	38309571	G6PC	GLU	LYS	110	232200.0009	GLYCOGEN STORAGE DISEASE Ia
chr17	38313094	38313095	G6PC	ALA	THR	124	232200.0010	GLYCOGEN STORAGE DISEASE Ia
chr17	38314895	38314896	G6PC	VAL	GLY	166	232200.0014	GLYCOGEN STORAGE DISEASE Ia
chr17	38314949	38314950	G6PC	GLY	GLU	184	232200.0011	GLYCOGEN STORAGE DISEASE Ia
chr17	38314960	38314961	G6PC	GLY	ARG	188	232200.0012	GLYCOGEN STORAGE DISEASE Ia
chr17	38316777	38316778	G6PC	ARG	CYS	295	232200.0003	GLYCOGEN STORAGE DISEASE Ia
chr17	38316933	38316934	G6PC	GLN	TER	347	232200.0004	GLYCOGEN STORAGE DISEASE Ia
chr17	38451253	38451254	BRCA1	TYR	TER	1853	113705.0019	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38456613	38456614	BRCA1	MET	ARG	1775	113705.0035	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38456613	38456614	BRCA1	MET	LYS	1775	113705.0036	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38487976	38487977	BRCA1	ARG	TER	1443	113705.0016	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38487976	38487977	BRCA1	ARG	GLY	1443	113705.0017	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38497325	38497326	BRCA1	GLU	TER	1250	113705.0013	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38497466	38497467	BRCA1	ARG	TER	1203	113705.0012	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38497954	38497955	BRCA1	SER	ASN	1040	113705.0011	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38498552	38498553	BRCA1	ARG	TRP	841	113705.0022	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38511999	38512000	BRCA1	ARG	GLY	71	113705.0034	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38512020	38512021	BRCA1	CYS	GLY	64	113705.0001	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38512029	38512030	BRCA1	CYS	GLY	61	113705.0002	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38512029	38512030	BRCA1	SER	TER	766	113705.0007	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	38512029	38512030	BRCA1	SER	TER	915	113705.0009	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
chr17	39188501	39188502	SOST	ARG	TER	126	605740.0004	SCLEROSTEOSIS
chr17	39188507	39188510	SOST	TRP	TER	124	605740.0003	SCLEROSTEOSIS
chr17	39386192	39386193	PYY	GLN	PRO	62	600781.0001	OBESITY, SUSCEPTIBILITY TO
chr17	39439050	39439051	NAGS	ALA	THR	279	608300.0005	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
chr17	39439476	39439479	NAGS	TRP	TER	324	608300.0002	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
chr17	39440504	39440505	NAGS	LEU	PRO	430	608300.0006	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
chr17	39440514	39440515	NAGS	GLU	ASP	433	608300.0008	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
chr17	39440665	39440666	NAGS	TRP	ARG	484	608300.0007	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
chr17	39503999	39504000	G6PC3	TYR	TER	47	611045.0003	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4
chr17	39508221	39508222	G6PC3	LEU	PRO	185	611045.0002	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4
chr17	39508653	39508654	G6PC3	ARG	HIS	253	611045.0001	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4
chr17	39508679	39508680	G6PC3	GLY	ARG	262	611045.0004	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4
chr17	39684099	39684100	SLC4A1	ARG	TRP	870	109270.0024	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE III
chr17	39684134	39684135	SLC4A1	ALA	ASP	858	109270.0020	RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT
chr17	39684146	39684147	SLC4A1	PRO	LEU	854	109270.0017	DIEGO BLOOD GROUP ANTIGEN
chr17	39684198	39684199	SLC4A1	THR	ALA	837	109270.0019	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TOKYO
chr17	39684476	39684477	SLC4A1	SER	PRO	773	109270.0026	RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY
chr17	39686010	39686011	SLC4A1	GLY	ASP	771	109270.0007	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CHUR
chr17	39686043	39686044	SLC4A1	ARG	GLN	760	109270.0028	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE II
chr17	39686220	39686221	SLC4A1	GLY	ASP	701	109270.0016	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA
chr17	39687474	39687475	SLC4A1	GLU	LYS	658	109270.0006	WRIGHT BLOOD GROUP ANTIGEN
chr17	39687509	39687510	SLC4A1	ARG	GLN	646	109270.0030	SWANN BLOOD GROUP ANTIGEN
chr17	39687510	39687511	SLC4A1	ARG	TRP	646	109270.0031	SWANN BLOOD GROUP ANTIGEN
chr17	39688152	39688153	SLC4A1	SER	PHE	613	109270.0014	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
chr17	39688185	39688186	SLC4A1	ARG	PRO	602	109270.0027	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA
chr17	39688600	39688601	SLC4A1	ARG	HIS	589	109270.0012	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
chr17	39688601	39688602	SLC4A1	ARG	CYS	589	109270.0013	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
chr17	39688601	39688602	SLC4A1	ARG	SER	589	109270.0015	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
chr17	39688697	39688698	SLC4A1	VAL	MET	557	109270.0011	WALDNER BLOOD GROUP ANTIGEN
chr17	39690407	39690408	SLC4A1	VAL	MET	488	109270.0022	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 COIMBRA RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA, INCLUDED
chr17	39690431	39690432	SLC4A1	GLU	LYS	480	109270.0029	FROESE BLOOD GROUP ANTIGEN
chr17	39691405	39691406	SLC4A1	GLN	TER	330	109270.0008	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 NOIRTERRE
chr17	39691413	39691414	SLC4A1	PRO	ARG	327	109270.0003	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TUSCALOOSA
chr17	39693334	39693335	SLC4A1	ARG	TER	150	109270.0009	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 LYON
chr17	39693394	39693395	SLC4A1	GLY	ARG	130	109270.0018	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 FUKUOKA
chr17	39693609	39693610	SLC4A1	GLU	LYS	90	109270.0023	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CAPE TOWN
chr17	39694470	39694471	SLC4A1	LYS	GLU	56	109270.0001	BAND 3 MEMPHIS
chr17	39694518	39694519	SLC4A1	GLU	LYS	40	109270.0004	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 MONTEFIORE
chr17	39782059	39782060	GRN	MET	THR	1	138945.0003	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS
chr17	39782060	39782061	GRN	MET	ILE	1	138945.0004	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS
chr17	39782083	39782084	GRN	ALA	ASP	9	138945.0008	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS
chr17	39783144	39783145	GRN	GLN	TER	125	138945.0002	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS
chr17	39785297	39785298	GRN	ARG	TER	493	138945.0009	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS
chr17	39812897	39812898	ITGA2B	ARG	TER	584	607759.0005	GLANZMANN THROMBASTHENIA
chr17	39813912	39813913	ITGA2B	GLY	ASP	418	607759.0010	GLANZMANN THROMBASTHENIA
chr17	39817460	39817461	ITGA2B	GLY	ASP	273	607759.0007	GLANZMANN THROMBASTHENIA
chr17	39818086	39818087	ITGA2B	LEU	PRO	214	607759.0014	GLANZMANN THROMBASTHENIA
chr17	40340968	40340969	GFAP	ARG	TRP	416	137780.0003	ALEXANDER DISEASE
chr17	40344170	40344171	GFAP	GLU	ASP	362	137780.0010	ALEXANDER DISEASE
chr17	40344201	40344202	GFAP	LEU	PRO	352	137780.0012	ALEXANDER DISEASE
chr17	40344644	40344645	GFAP	ARG	LEU	276	137780.0011	ALEXANDER DISEASE
chr17	40346226	40346227	GFAP	ARG	HIS	239	137780.0002	ALEXANDER DISEASE
chr17	40346227	40346228	GFAP	ARG	CYS	239	137780.0001	ALEXANDER DISEASE
chr17	40348118	40348119	GFAP	ARG	CYS	88	137780.0006	ALEXANDER DISEASE
chr17	40348118	40348119	GFAP	ARG	SER	88	137780.0007	ALEXANDER DISEASE
chr17	40348144	40348145	GFAP	ARG	HIS	79	137780.0004	ALEXANDER DISEASE
chr17	40348145	40348146	GFAP	ARG	CYS	79	137780.0005	ALEXANDER DISEASE
chr17	40348146	40348147	GFAP	ASP	GLU	78	137780.0013	ALEXANDER DISEASE
chr17	40348151	40348152	GFAP	ASN	TYR	77	137780.0009	ALEXANDER DISEASE
chr17	40348154	40348155	GFAP	LEU	PHE	76	137780.0008	ALEXANDER DISEASE
chr17	41395552	41395553	MAPT	ARG	HIS	5	157140.0017	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	41395552	41395553	MAPT	ARG	LEU	5	157140.0019	SUPRANUCLEAR PALSY, PROGRESSIVE
chr17	41429814	41429815	MAPT	LYS	THR	257	157140.0015	PICK DISEASE
chr17	41429840	41429841	MAPT	LEU	VAL	266	157140.0022	DEMENTIA, FRONTOTEMPORAL
chr17	41429859	41429860	MAPT	GLY	VAL	272	157140.0002	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	41443526	41443527	MAPT	ASN	LYS	279	157140.0009	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	41443577	41443578	MAPT	ASN	ASN	296	157140.0013	DEMENTIA, FRONTOTEMPORAL
chr17	41443590	41443591	MAPT	PRO	SER	301	157140.0012	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	41443591	41443592	MAPT	PRO	LEU	301	157140.0001	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM SUPRANUCLEAR PALSY, PROGRESSIVE, INCLUDED
chr17	41443597	41443598	MAPT	GLY	VAL	303	157140.0025	SUPRANUCLEAR PALSY, PROGRESSIVE
chr17	41443603	41443604	MAPT	SER	ASN	305	157140.0010	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	41447479	41447480	MAPT	LYS	MET	317	157140.0024	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	41447488	41447489	MAPT	SER	PHE	320	157140.0018	PICK DISEASE
chr17	41451841	41451842	MAPT	VAL	MET	337	157140.0008	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	41451857	41451858	MAPT	GLU	VAL	342	157140.0014	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	41451887	41451888	MAPT	SER	LEU	352	157140.0023	TAUOPATHY AND RESPIRATORY FAILURE
chr17	41451936	41451937	MAPT	ASN	LYS	279	157140.0009	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	41451938	41451939	MAPT	LYS	ILE	369	157140.0016	PICK DISEASE
chr17	41457179	41457180	MAPT	LYS	MET	317	157140.0024	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	41457220	41457221	MAPT	GLY	ARG	389	157140.0011	PICK DISEASE
chr17	41457271	41457272	MAPT	ARG	TRP	406	157140.0003	DEMENTIA, FRONTOTEMPORAL
chr17	41457347	41457348	MAPT	GLU	VAL	342	157140.0014	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
chr17	42206271	42206272	WNT3	GLN	TER	83	165330.0001	TETRAAMELIA, AUTOSOMAL RECESSIVE
chr17	42723411	42723412	ITGB3	PRO	ALA	407	173470.0007	Mo ALLOANTIGEN POLYMORPHISM THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED
chr17	43379045	43379046	PNPO	ARG	TRP	229	603287.0001	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
chr17	43379144	43379145	PNPO	TER	GLN	262	603287.0003	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
chr17	44841770	44841771	PHB	ARG	HIS	105	176705.0001	BREAST CANCER, SPORADIC
chr17	44841821	44841822	PHB	VAL	ALA	88	176705.0002	BREAST CANCER, SPORADIC
chr17	45600012	45600013	SGCA	ARG	CYS	77	600119.0003	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
chr17	45600076	45600077	SGCA	ARG	HIS	98	600119.0001	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
chr17	45600749	45600750	SGCA	TYR	TER	134	600119.0006	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
chr17	45600757	45600758	SGCA	GLU	GLY	137	600119.0004	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
chr17	45600871	45600872	SGCA	VAL	ALA	175	600119.0002	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
chr17	45602604	45602605	SGCA	ARG	CYS	284	600119.0005	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
chr17	45631596	45631597	COL1A1	GLY	ARG	154	120150.0030	OSTEOGENESIS IMPERFECTA, TYPE III
chr17	45792454	45792455	XYLT2	THR	ARG	801	608125.0001	PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
chr17	52026685	52026686	NOG	PRO	SER	35	602991.0012	 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, INCLUDED
chr17	52026685	52026686	NOG	PRO	SER	35	602991.0012	SYMPHALANGISM, PROXIMAL BRACHYDACTYLY, TYPE B2, INCLUDED
chr17	52026685	52026686	NOG	PRO	ALA	35	602991.0017	BRACHYDACTYLY, TYPE B2
chr17	52026686	52026687	NOG	PRO	ARG	35	602991.0007	TARSAL-CARPAL COALITION SYNDROME SYMPHALANGISM, PROXIMAL, INCLUDED
chr17	52026910	52026911	NOG	GLN	TER	110	602991.0013	STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM
chr17	52026968	52026969	NOG	LEU	TER	129	602991.0010	SYMPHALANGISM, PROXIMAL
chr17	52027081	52027082	NOG	ARG	GLY	167	602991.0018	BRACHYDACTYLY, TYPE B2
chr17	52027133	52027134	NOG	CYS	TYR	184	602991.0009	SYMPHALANGISM, PROXIMAL
chr17	52027147	52027148	NOG	GLY	CYS	189	602991.0005	SYMPHALANGISM, PROXIMAL
chr17	52027193	52027194	NOG	ARG	LEU	204	602991.0006	TARSAL-CARPAL COALITION SYNDROME
chr17	52027195	52027198	NOG	TRP	TER	205	602991.0015	MULTIPLE SYNOSTOSES SYNDROME 1
chr17	52027197	52027198	NOG	TRP	CYS	205	602991.0016	MULTIPLE SYNOSTOSES SYNDROME 1
chr17	52027231	52027232	NOG	TRP	GLY	217	602991.0003	MULTIPLE SYNOSTOSES SYNDROME 1
chr17	52027246	52027247	NOG	TYR	ASP	222	602991.0002	SYMPHALANGISM, PROXIMAL
chr17	52027247	52027248	NOG	TYR	CYS	222	602991.0001	SYMPHALANGISM, PROXIMAL
chr17	52027247	52027248	NOG	TYR	CYS	222	602991.0008	TARSAL-CARPAL COALITION SYNDROME SYMPHALANGISM, PROXIMAL, INCLUDED
chr17	52027250	52027251	NOG	PRO	LEU	223	602991.0004	SYMPHALANGISM, PROXIMAL
chr17	53629353	53629354	EPX	ARG	HIS	286	131399.0001	EOSINOPHIL PEROXIDASE DEFICIENCY
chr17	53638838	53638839	MKS1	CYS	TRP	492	609883.0006	BARDET-BIEDL SYNDROME 13
chr17	53705184	53705185	MPO	LEU	TRP	572	606989.0006	MYELOPEROXIDASE DEFICIENCY
chr17	53705194	53705195	MPO	ARG	TRP	569	606989.0001	MYELOPEROXIDASE DEFICIENCY
chr17	53705893	53705894	MPO	GLY	SER	501	606989.0009	MYELOPEROXIDASE DEFICIENCY
chr17	53705899	53705900	MPO	ARG	CYS	499	606989.0010	MYELOPEROXIDASE DEFICIENCY
chr17	53710395	53710396	MPO	ALA	VAL	332	606989.0005	MYELOPEROXIDASE DEFICIENCY
chr17	53711500	53711501	MPO	MET	THR	251	606989.0003	MYELOPEROXIDASE DEFICIENCY
chr17	53711912	53711913	MPO	TYR	CYS	173	606989.0002	MYELOPEROXIDASE DEFICIENCY
chr17	54516188	54516191	TRIM37	CYS	SER	109	605073.0006	MULIBREY NANISM
chr17	55582216	55582217	CA4	ARG	TRP	14	114760.0001	RETINITIS PIGMENTOSA 17
chr17	55588795	55588796	CA4	ARG	HIS	69	114760.0003	RETINITIS PIGMENTOSA 17
chr17	55590499	55590500	CA4	ARG	SER	219	114760.0002	RETINITIS PIGMENTOSA 17
chr17	56888816	56888817	TBX4	GLN	TER	62	601719.0002	SMALL PATELLA SYNDROME
chr17	56912063	56912064	TBX4	GLY	VAL	248	601719.0001	SMALL PATELLA SYNDROME
chr17	56915612	56915613	TBX4	GLN	ARG	531	601719.0003	SMALL PATELLA SYNDROME
chr17	57148193	57148194	BRIP1	ARG	TER	798	605882.0003	FANCONI ANEMIA, COMPLEMENTATION GROUP J
chr17	57240630	57240631	BRIP1	MET	ILE	299	605882.0002	BREAST CANCER, EARLY-ONSET
chr17	57292004	57292005	BRIP1	PRO	ALA	47	605882.0001	BREAST CANCER, EARLY-ONSET
chr17	58911571	58911572	ACE	TYR	TER	266	106180.0003	RENAL TUBULAR DYSGENESIS
chr17	59349550	59349553	GH1	TRP	TER	20	139250.0002	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA
chr17	59361186	59361187	CD79B	GLY	SER	137	147245.0001	IMMUNODEFICIENCY, HYPOGAMMAGLOBULINEMIA, AND REDUCED B CELLS
chr17	59372599	59372600	SCN4A	MET	VAL	1592	603967.0002	HYPERKALEMIC PERIODIC PARALYSIS PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS, INCLUDED
chr17	59372608	59372609	SCN4A	VAL	MET	1589	603967.0009	MYOTONIA, POTASSIUM-AGGRAVATED PARAMYOTONIA CONGENITA, INCLUDED
chr17	59372945	59372946	SCN4A	MET	ILE	1476	603967.0026	PARAMYOTONIA CONGENITA
chr17	59373030	59373031	SCN4A	ARG	HIS	1448	603967.0004	PARAMYOTONIA CONGENITA
chr17	59373031	59373032	SCN4A	ARG	CYS	1448	603967.0003	PARAMYOTONIA CONGENITA
chr17	59373048	59373049	SCN4A	VAL	GLU	1442	603967.0018	MYASTHENIC SYNDROME
chr17	59373075	59373076	SCN4A	LEU	ARG	1433	603967.0011	PARAMYOTONIA CONGENITA
chr17	59374916	59374917	SCN4A	THR	MET	1313	603967.0008	PARAMYOTONIA CONGENITA
chr17	59374937	59374938	SCN4A	GLY	VAL	1306	603967.0007	PARAMYOTONIA CONGENITA MYOTONIA, POTASSIUM-AGGRAVATED, INCLUDED
chr17	59374937	59374938	SCN4A	GLY	ALA	1306	603967.0012	MYOTONIA FLUCTUANS
chr17	59374937	59374938	SCN4A	GLY	GLU	1306	603967.0025	MYOTONIA PERMANENS
chr17	59375785	59375786	SCN4A	ASN	LYS	1297	603967.0027	PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
chr17	59375799	59375800	SCN4A	VAL	ILE	1293	603967.0013	PARAMYOTONIA CONGENITA
chr17	59376693	59376694	SCN4A	ILE	VAL	1160	603967.0010	MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
chr17	59376699	59376700	SCN4A	PRO	SER	1158	603967.0021	HYPOKALEMIC PERIODIC PARALYSIS
chr17	59376705	59376706	SCN4A	ALA	THR	1156	603967.0005	PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
chr17	59382957	59382958	SCN4A	SER	PHE	804	603967.0006	PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA MYOTONIA FLUCTUANS, INCLUDED
chr17	59388518	59388519	SCN4A	THR	MET	704	603967.0001	HYPERKALEMIC PERIODIC PARALYSIS PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS, INCLUDED
chr17	59388551	59388552	SCN4A	ILE	THR	693	603967.0028	PARAMYOTONIA CONGENITA
chr17	59388605	59388606	SCN4A	ARG	GLN	675	603967.0023	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
chr17	59388606	59388607	SCN4A	ARG	GLY	675	603967.0022	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
chr17	59388606	59388607	SCN4A	ARG	TRP	675	603967.0024	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
chr17	59390360	59390361	SCN4A	ARG	HIS	672	603967.0016	HYPOKALEMIC PERIODIC PARALYSIS
chr17	59390361	59390362	SCN4A	ARG	GLY	672	603967.0017	HYPOKALEMIC PERIODIC PARALYSIS
chr17	59390361	59390362	SCN4A	ARG	SER	672	603967.0020	HYPOKALEMIC PERIODIC PARALYSIS
chr17	59390369	59390370	SCN4A	ARG	HIS	669	603967.0015	HYPOKALEMIC PERIODIC PARALYSIS
chr17	59395678	59395679	SCN4A	VAL	MET	445	603967.0014	MYOTONIA CONGENITA, ATYPICAL
chr17	59403288	59403289	SCN4A	ILE	VAL	141	603967.0029	PARAMYOTONIA CONGENITA
chr17	59804698	59804699	PECAM1	LEU	VAL	125	173445.0001	PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM
chr17	59904507	59904508	POLG2	GLY	GLU	451	604983.0001	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4
chr17	60623739	60623740	RGS9	TRP	ARG	299	604067.0001	BRADYOPSIA
chr17	60962924	60962925	AXIN2	GLU	TER	706	604025.0001	COLORECTAL CANCER, SOMATIC
chr17	60962924	60962925	AXIN2	LEU	TER	688	604025.0002	COLORECTAL CANCER, SOMATIC
chr17	60963074	60963075	AXIN2	ARG	TER	656	604025.0003	OLIGODONTIA-COLORECTAL CANCER SYNDROME
chr17	62115589	62115590	PRKCA	ASP	GLY	294	176960.0001	PITUITARY TUMOR, INVASIVE, SOMATIC
chr17	64030533	64030534	PRKAR1A	ARG	CYS	74	188830.0013	CARNEY COMPLEX, TYPE 1
chr17	65682973	65682974	KCNJ2	ARG	TRP	67	600681.0006	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
chr17	65682986	65682987	KCNJ2	ASP	VAL	71	600681.0001	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
chr17	65682998	65682999	KCNJ2	THR	ARG	75	600681.0011	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
chr17	65683288	65683289	KCNJ2	ASP	ASN	172	600681.0010	SHORT QT SYNDROME 3
chr17	65683331	65683332	KCNJ2	PRO	LEU	186	600681.0007	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
chr17	65683420	65683421	KCNJ2	ASN	HIS	216	600681.0009	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
chr17	65683426	65683427	KCNJ2	ARG	TRP	218	600681.0002	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
chr17	65683673	65683674	KCNJ2	GLY	VAL	300	600681.0003	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
chr17	65683678	65683679	KCNJ2	VAL	MET	302	600681.0008	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
chr17	67629353	67629354	SOX9	ALA	GLU	76	608160.0009	ACAMPOMELIC CAMPOMELIC DYSPLASIA
chr17	67630482	67630485	SOX9	PHE	LEU	154	608160.0011	CAMPOMELIC DYSPLASIA
chr17	67630494	67630495	SOX9	ALA	THR	158	608160.0012	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
chr17	67630515	67630516	SOX9	HIS	TYR	165	608160.0008	ACAMPOMELIC CAMPOMELIC DYSPLASIA
chr17	67630539	67630540	SOX9	LYS	GLU	173	608160.0006	ACAMPOMELIC CAMPOMELIC DYSPLASIA
chr17	67631912	67631913	SOX9	TYR	TER	440	608160.0005	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
chr17	69807513	69807514	DNAI2	ARG	TER	263	605483.0003	CILIARY DYSKINESIA, PRIMARY, 9
chr17	70256907	70256908	SLC9A3R1	LEU	VAL	110	604990.0001	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
chr17	70269761	70269762	SLC9A3R1	ARG	GLN	153	604990.0002	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
chr17	70271169	70271170	SLC9A3R1	GLU	LYS	225	604990.0003	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
chr17	70430620	70430621	USH1G	LEU	PRO	48	607696.0001	USHER SYNDROME, TYPE IG
chr17	70430651	70430654	USH1G	TRP	TER	38	607696.0005	USHER SYNDROME, TYPE IG
chr17	70785940	70785941	SLC25A19	GLY	ALA	177	606521.0001	MICROCEPHALY, AMISH TYPE
chr17	71024739	71024740	TSEN54	SER	PRO	93	608755.0002	PONTOCEREBELLAR HYPOPLASIA TYPE 4
chr17	71029492	71029493	TSEN54	GLN	TER	246	608755.0003	PONTOCEREBELLAR HYPOPLASIA TYPE 4
chr17	71029675	71029676	TSEN54	ALA	SER	307	608755.0001	PONTOCEREBELLAR HYPOPLASIA TYPE 2A PONTOCEREBELLAR HYPOPLASIA TYPE 4, INCLUDED
chr17	71029675	71029676	TSEN54	ALA	SER	307	608755.0002	PONTOCEREBELLAR HYPOPLASIA TYPE 4
chr17	71029783	71029784	TSEN54	GLN	TER	343	608755.0004	PONTOCEREBELLAR HYPOPLASIA TYPE 4
chr17	71234901	71234902	ITGB4	CYS	ARG	38	147557.0009	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
chr17	71235098	71235099	ITGB4	CYS	TYR	61	147557.0005	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
chr17	71235528	71235529	ITGB4	LEU	PRO	156	147557.0003	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
chr17	71243728	71243729	ITGB4	ARG	TER	554	147557.0004	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
chr17	71243752	71243753	ITGB4	CYS	ARG	562	147557.0006	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
chr17	71250266	71250267	ITGB4	GLY	ASP	931	147557.0012	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
chr17	71258667	71258668	ITGB4	ARG	HIS	1225	147557.0015	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
chr17	71259896	71259897	ITGB4	ARG	TRP	1281	147557.0014	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
chr17	71263459	71263462	ITGB4	TRP	TER	1478	147557.0008	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
chr17	71265766	71265767	GALK1	GLN	TER	382	604313.0004	GALACTOKINASE DEFICIENCY
chr17	71270707	71270708	GALK1	ALA	VAL	198	604313.0006	GALACTOKINASE DEFICIENCY
chr17	71271689	71271690	GALK1	GLU	TER	80	604313.0002	GALACTOKINASE DEFICIENCY
chr17	71272718	71272719	GALK1	VAL	MET	32	604313.0001	GALACTOKINASE DEFICIENCY
chr17	71272730	71272731	GALK1	PRO	THR	28	604313.0003	GALACTOKINASE DEFICIENCY
chr17	71338828	71338829	UNC13D	PHE	CYS	857	608897.0009	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
chr17	71344337	71344338	UNC13D	LEU	PRO	403	608897.0007	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
chr17	71347992	71347993	UNC13D	ARG	TER	256	608897.0005	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
chr17	71461144	71461145	ACOX1	GLN	ARG	309	609751.0004	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
chr17	71461238	71461239	ACOX1	MET	VAL	278	609751.0002	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
chr17	71465140	71465141	ACOX1	GLY	CYS	178	609751.0003	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
chr17	71465230	71465231	ACOX1	ARG	TER	148	609751.0005	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
chr17	71977407	71977408	AANAT	ALA	THR	129	600950.0001	DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO
chr17	72047822	72047823	PRCD	CYS	TYR	2	610598.0001	RETINITIS PIGMENTOSA 36
chr17	72909974	72909975	SEPT9	ARG	TRP	88	604061.0001	AMYOTROPHY, HEREDITARY NEURALGIC
chr17	72909990	72909991	SEPT9	SER	PHE	93	604061.0002	AMYOTROPHY, HEREDITARY NEURALGIC
chr17	72995217	72995218	SEPT9	SER	PHE	93	604061.0002	AMYOTROPHY, HEREDITARY NEURALGIC
chr17	74501533	74501534	CANT1	ARG	HIS	300	613165.0004	DESBUQUOIS DYSPLASIA
chr17	74501534	74501535	CANT1	ARG	CYS	300	613165.0003	DESBUQUOIS DYSPLASIA
chr17	74501536	74501537	CANT1	PRO	LEU	299	613165.0007	DESBUQUOIS DYSPLASIA
chr17	74504926	74504929	CANT1	TRP	TER	125	613165.0006	DESBUQUOIS DYSPLASIA
chr17	75372129	75372130	CBX2	PRO	LEU	98	602770.0001	46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED
chr17	75373164	75373165	CBX2	ARG	PRO	443	602770.0002	46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED
chr17	75693250	75693251	GAA	ASP	ASN	91	606800.0001	ACID ALPHA-GLUCOSIDASE, ALLELE 2
chr17	75695967	75695968	GAA	ALA	VAL	237	606800.0016	GLYCOGEN STORAGE DISEASE II, ADULT FORM
chr17	75696211	75696212	GAA	GLY	ARG	293	606800.0017	GLYCOGEN STORAGE DISEASE II, ADULT FORM
chr17	75696230	75696231	GAA	LEU	ARG	299	606800.0008	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
chr17	75696230	75696231	GAA	SER	VAL	529	606800.0009	GLYCOGEN STORAGE DISEASE II, ADULT FORM
chr17	75696287	75696288	GAA	MET	THR	318	606800.0002	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
chr17	75699343	75699344	GAA	GLU	LYS	521	606800.0003	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
chr17	75699416	75699417	GAA	PRO	LEU	545	606800.0013	GLYCOGEN STORAGE DISEASE II, ADULT FORM
chr17	75701307	75701308	GAA	GLY	ARG	643	606800.0004	GLYCOGEN STORAGE DISEASE II, ADULT FORM
chr17	75701315	75701316	GAA	ASP	GLU	645	606800.0010	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
chr17	75701635	75701636	GAA	GLU	LYS	689	606800.0011	ACID ALPHA-GLUCOSIDASE, ALLELE 4
chr17	75701743	75701744	GAA	ARG	TRP	725	606800.0005	GLYCOGEN STORAGE DISEASE II, ADULT FORM
chr17	75706664	75706665	GAA	ARG	TER	854	606800.0015	GLYCOGEN STORAGE DISEASE II
chr17	75799015	75799016	SGSH	GLU	LYS	447	605270.0006	SANFILIPPO SYNDROME A
chr17	75799056	75799057	SGSH	ARG	GLN	433	605270.0010	SANFILIPPO SYNDROME A
chr17	75799249	75799250	SGSH	GLU	LYS	369	605270.0009	SANFILIPPO SYNDROME A
chr17	75802208	75802209	SGSH	ARG	HIS	245	605270.0001	SANFILIPPO SYNDROME A
chr17	75802611	75802612	SGSH	ARG	PRO	206	605270.0012	SANFILIPPO SYNDROME A
chr17	75803065	75803066	SGSH	ARG	GLN	150	605270.0005	SANFILIPPO SYNDROME A
chr17	75803131	75803132	SGSH	PRO	LEU	128	605270.0011	SANFILIPPO SYNDROME A
chr17	75805454	75805455	SGSH	ARG	CYS	74	605270.0002	SANFILIPPO SYNDROME A
chr17	75805477	75805478	SGSH	SER	TRP	66	605270.0003	SANFILIPPO SYNDROME A
chr17	77092329	77092330	ACTG1	VAL	ALA	370	102560.0006	DEAFNESS, AUTOSOMAL DOMINANT 20
chr17	77092444	77092445	ACTG1	PRO	ALA	332	102560.0003	DEAFNESS, AUTOSOMAL DOMINANT 20
chr17	77092698	77092699	ACTG1	THR	ILE	278	102560.0005	DEAFNESS, AUTOSOMAL DOMINANT 20
chr17	77092819	77092820	ACTG1	PRO	LEU	264	102560.0004	DEAFNESS, AUTOSOMAL DOMINANT 20
chr17	77093533	77093534	ACTG1	LYS	MET	118	102560.0002	DEAFNESS, AUTOSOMAL DOMINANT 20
chr17	77093620	77093621	ACTG1	THR	ILE	89	102560.0001	DEAFNESS, AUTOSOMAL DOMINANT 20
chr17	77485492	77485493	PYCR1	ARG	GLN	266	179035.0001	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
chr17	77485492	77485493	PYCR1	ARG	GLN	266	179035.0004	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
chr17	77485537	77485538	PYCR1	ARG	HIS	251	179035.0009	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
chr17	77485836	77485837	PYCR1	GLY	TRP	206	179035.0002	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
chr17	77486276	77486277	PYCR1	ARG	HIS	119	179035.0008	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
chr17	77486277	77486278	PYCR1	ARG	GLY	119	179035.0007	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
chr17	77816907	77816908	CSNK1D	THR	ALA	44	600864.0001	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME
chr17	79855782	79855783	CHRNB1	VAL	MET	266	100710.0001	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
chr17_random	2326171	2326172	GCGR	GLY	SER	40	138033.0001	DIABETES MELLITUS, TYPE II
chr18	2912170	2912171	LPIN2	SER	LEU	734	605519.0001	MAJEED SYNDROME
chr18	13874756	13874757	MC2R	TYR	CYS	254	607397.0009	GLUCOCORTICOID DEFICIENCY 1
chr18	13874765	13874766	MC2R	CYS	PHE	251	607397.0007	GLUCOCORTICOID DEFICIENCY 1
chr18	13874916	13874917	MC2R	ARG	TER	201	607397.0002	GLUCOCORTICOID DEFICIENCY 1
chr18	13875108	13875109	MC2R	ARG	TRP	137	607397.0008	GLUCOCORTICOID DEFICIENCY 1
chr18	13875135	13875136	MC2R	ARG	CYS	128	607397.0004	GLUCOCORTICOID DEFICIENCY 1
chr18	13875159	13875162	MC2R	SER	ARG	120	607397.0003	GLUCOCORTICOID DEFICIENCY 1
chr18	13875198	13875199	MC2R	ASP	ASN	107	607397.0005	GLUCOCORTICOID DEFICIENCY 1
chr18	13875296	13875297	MC2R	SER	ILE	74	607397.0001	GLUCOCORTICOID DEFICIENCY 1
chr18	18826796	18826797	RBBP8	LYS	GLU	337	604124.0001	PANCREATIC CARCINOMA, SOMATIC
chr18	19367431	19367432	NPC1	LEU	PHE	1213	607623.0009	NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
chr18	19369440	19369441	NPC1	ASN	SER	1156	607623.0003	NIEMANN-PICK DISEASE, TYPE C1
chr18	19369644	19369645	NPC1	TYR	CYS	1088	607623.0008	NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
chr18	19370697	19370698	NPC1	ILE	THR	1061	607623.0010	NIEMANN-PICK DISEASE, TYPE C1
chr18	19370772	19370773	NPC1	THR	MET	1036	607623.0002	NIEMANN-PICK DISEASE, TYPE C1
chr18	19370775	19370776	NPC1	ALA	VAL	1035	607623.0016	NIEMANN-PICK DISEASE, TYPE C1
chr18	19372525	19372526	NPC1	PRO	ALA	1007	607623.0012	NIEMANN-PICK DISEASE, VARIANT TYPE C1
chr18	19372570	19372571	NPC1	GLY	TRP	992	607623.0004	NIEMANN-PICK DISEASE, TYPE D
chr18	19372570	19372571	NPC1	GLY	ARG	992	607623.0013	NIEMANN-PICK DISEASE, TYPE C1
chr18	19372612	19372613	NPC1	ARG	CYS	978	607623.0020	NIEMANN-PICK DISEASE, TYPE C1
chr18	19373354	19373355	NPC1	ARG	GLN	958	607623.0011	NIEMANN-PICK DISEASE, VARIANT TYPE C1
chr18	19373379	19373380	NPC1	VAL	MET	950	607623.0015	NIEMANN-PICK DISEASE, TYPE C1
chr18	19373784	19373785	NPC1	GLN	PRO	928	607623.0001	NIEMANN-PICK DISEASE, TYPE C1
chr18	19373902	19373903	NPC1	VAL	MET	889	607623.0006	NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
chr18	19390397	19390398	NPC1	VAL	ALA	378	607623.0014	NIEMANN-PICK DISEASE, TYPE C1
chr18	19395422	19395423	NPC1	CYS	TYR	177	607623.0018	NIEMANN-PICK DISEASE, TYPE C1
chr18	19402910	19402911	NPC1	CYS	ARG	113	607623.0022	NIEMANN-PICK DISEASE, TYPE C1
chr18	19741824	19741825	LAMA3	ARG	TER	650	600805.0002	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
chr18	26835687	26835688	DSC3	LEU	TER	710	600271.0001	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
chr18	27358514	27358515	DSG2	ASN	SER	266	125671.0006	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
chr18	27358825	27358826	DSG2	GLU	LYS	331	125671.0007	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
chr18	27425890	27425891	TTR	CYS	ARG	10	176300.0028	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
chr18	27426919	27426920	TTR	ALA	THR	45	176300.0021	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
chr18	27426964	27426965	TTR	THR	ALA	60	176300.0004	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
chr18	27426976	27426979	TTR	PHE	LEU	64	176300.0037	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
chr18	27426977	27426978	TTR	PHE	SER	64	176300.0048	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
chr18	30628211	30628212	DTNA	PRO	LEU	121	601239.0001	LEFT VENTRICULAR NONCOMPACTION WITH CONGENITAL HEART DEFECTS LEFT VENTRICULAR NONCOMPACTION, ISOLATED, AUTOSOMAL DOMINANT, INCLUDED
chr18	42406085	42406086	LOXHD1	ARG	TER	670	613072.0001	DEAFNESS, AUTOSOMAL RECESSIVE 77
chr18	44899233	44899234	DYM	CYS	ARG	542	607461.0010	SMITH-McCORT DYSPLASIA
chr18	45037432	45037433	DYM	ASN	TYR	469	607461.0004	DYGGVE-MELCHIOR-CLAUSEN DISEASE
chr18	45158959	45158960	DYM	TYR	TER	132	607461.0003	DYGGVE-MELCHIOR-CLAUSEN DISEASE
chr18	45160060	45160061	DYM	GLU	LYS	87	607461.0006	SMITH-MCCORT DYSPLASIA
chr18	45210714	45210715	DYM	TYR	TER	16	607461.0001	DYGGVE-MELCHIOR-CLAUSEN DISEASE
chr18	45716643	45716644	MYO5B	PRO	LEU	660	606540.0006	MICROVILLUS INCLUSION DISEASE
chr18	45716656	45716657	MYO5B	ARG	CYS	656	606540.0005	MICROVILLUS INCLUSION DISEASE
chr18	45754916	45754919	MYO5B	TRP	TER	375	606540.0004	MICROVILLUS INCLUSION DISEASE
chr18	45817349	45817350	MYO5B	VAL	GLY	108	606540.0003	MICROVILLUS INCLUSION DISEASE
chr18	46845888	46845889	SMAD4	GLY	ARG	352	600993.0011	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
chr18	46845906	46845907	SMAD4	GLY	TER	358	600993.0001	PANCREATIC CARCINOMA, SOMATIC
chr18	46845915	46845916	SMAD4	ARG	CYS	361	600993.0008	JUVENILE POLYPOSIS SYNDROME JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INCLUDED
chr18	46847403	46847404	SMAD4	GLY	ASP	386	600993.0010	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
chr18	46847482	46847483	SMAD4	TYR	TER	412	600993.0002	PANCREATIC CARCINOMA, SOMATIC
chr18	46858652	46858653	SMAD4	ASP	HIS	493	600993.0003	PANCREATIC CARCINOMA, SOMATIC
chr18	46858718	46858719	SMAD4	ARG	TER	515	600993.0004	PANCREATIC CARCINOMA, SOMATIC
chr18	48686501	48686502	DCC	MET	THR	168	120470.0002	ESOPHAGEAL CARCINOMA
chr18	51047215	51047216	TCF4	ARG	GLN	576	602272.0002	PITT-HOPKINS SYNDROME
chr18	51047216	51047217	TCF4	ARG	TRP	576	602272.0001	PITT-HOPKINS SYNDROME
chr18	51047221	51047222	TCF4	ARG	PRO	574	602272.0005	PITT-HOPKINS SYNDROME
chr18	51047227	51047228	TCF4	ARG	GLN	576	602272.0002	PITT-HOPKINS SYNDROME
chr18	53368963	53368964	FECH	PHE	SER	417	612386.0004	PROTOPORPHYRIA, ERYTHROPOIETIC
chr18	53368982	53368983	FECH	CYS	GLY	411	612386.0014	PROTOPORPHYRIA, ERYTHROPOIETIC
chr18	53368988	53368989	FECH	PRO	SER	409	612386.0014	PROTOPORPHYRIA, ERYTHROPOIETIC
chr18	53368989	53368990	FECH	ASN	LYS	408	612386.0014	PROTOPORPHYRIA, ERYTHROPOIETIC
chr18	53377377	53377378	FECH	MET	ILE	267	612386.0002	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE
chr18	53398333	53398334	FECH	GLY	CYS	55	612386.0001	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE
chr18	53479436	53479437	ATP8B1	GLY	ARG	892	602397.0002	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
chr18	53479511	53479512	ATP8B1	ARG	CYS	867	602397.0011	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY
chr18	53487662	53487663	ATP8B1	ILE	THR	661	602397.0006	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, INCLUDED
chr18	53493078	53493079	ATP8B1	ARG	TER	602	602397.0013	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
chr18	53493222	53493223	ATP8B1	ASP	ASN	554	602397.0008	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
chr18	53506590	53506591	ATP8B1	THR	MET	456	602397.0012	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
chr18	53513417	53513418	ATP8B1	GLY	VAL	308	602397.0001	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
chr18	53513477	53513478	ATP8B1	LEU	SER	288	602397.0003	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
chr18	53524790	53524791	ATP8B1	ASP	ASN	70	602397.0010	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY
chr18	55087347	55087348	RAX	TYR	TER	303	601881.0004	MICROPHTHALMIA, ISOLATED 3
chr18	55087347	55087348	TCF4	ARG	TRP	576	602272.0001	PITT-HOPKINS SYNDROME
chr18	55090676	55090677	RAX	GLN	TER	147	601881.0001	MICROPHTHALMIA, ISOLATED 3
chr18	55090676	55090677	RAX	ARG	GLU	192	601881.0002	MICROPHTHALMIA, ISOLATED 3
chr18	55177454	55177455	LMAN1	MET	THR	1	601567.0005	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
chr18	55284983	55284984	CCBE1	CYS	ARG	174	612753.0006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
chr18	55285031	55285032	CCBE1	ARG	CYS	158	612753.0005	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
chr18	55287780	55287783	CCBE1	CYS	SER	102	612753.0002	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
chr18	55298439	55298442	CCBE1	CYS	SER	75	612753.0001	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
chr18	56189615	56189616	MC4R	ILE	SER	316	155541.0016	OBESITY
chr18	56189701	56189702	MC4R	TYR	TER	287	155541.0017	OBESITY
chr18	56189741	56189742	MC4R	ASN	SER	274	155541.0009	OBESITY
chr18	56189741	56189742	MC4R	ILE	LYS	125	155541.0013	OBESITY
chr18	56189750	56189751	MC4R	CYS	TYR	271	155541.0014	OBESITY
chr18	56189906	56189907	MC4R	ALA	VAL	219	155541.0023	OBESITY
chr18	56190039	56190040	MC4R	ALA	THR	175	155541.0015	OBESITY
chr18	56190054	56190055	MC4R	ILE	VAL	170	155541.0008	OBESITY
chr18	56190182	56190183	MC4R	SER	LEU	127	155541.0021	OBESITY
chr18	56190257	56190258	MC4R	ILE	SER	102	155541.0007	OBESITY
chr18	56190273	56190274	MC4R	ASN	ASP	97	155541.0018	OBESITY
chr18	56190377	56190378	MC4R	ASN	SER	62	155541.0019	OBESITY
chr18	56190390	56190391	MC4R	SER	CYS	58	155541.0006	OBESITY
chr18	56190414	56190415	MC4R	VAL	MET	50	155541.0005	OBESITY
chr18	56190452	56190453	MC4R	ASP	VAL	37	155541.0004	OBESITY
chr18	56190457	56190458	MC4R	TYR	TER	35	155541.0003	OBESITY
chr18	58166461	58166462	TNFRSF11A	GLY	ARG	53	603499.0007	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
chr18	58172704	58172705	TNFRSF11A	ARG	CYS	129	603499.0005	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
chr18	58176540	58176541	TNFRSF11A	ARG	GLY	170	603499.0003	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
chr18	58178168	58178169	TNFRSF11A	CYS	ARG	175	603499.0004	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
chr18	58180005	58180006	TNFRSF11A	ALA	SER	244	603499.0006	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
chr19	531427	531428	BSG	GLU	LYS	92	109480.0001	BLOOD GROUP--OK
chr19	804021	804022	ELANE	VAL	MET	72	130130.0007	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1
chr19	804021	804022	ELANE	VAL	LEU	72	130130.0010	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1
chr19	811685	811686	CFD	SER	TER	42	134350.0001	COMPLEMENT FACTOR D DEFICIENCY
chr19	814113	814114	CFD	VAL	GLY	213	134350.0002	COMPLEMENT FACTOR D DEFICIENCY
chr19	814115	814116	CFD	CYS	ARG	214	134350.0002	COMPLEMENT FACTOR D DEFICIENCY
chr19	869603	869604	KISS1R	LEU	PRO	102	604161.0005	HYPOGONADOTROPIC HYPOGONADISM
chr19	870562	870563	KISS1R	LEU	SER	148	604161.0001	HYPOGONADOTROPIC HYPOGONADISM
chr19	871541	871542	KISS1R	ARG	TER	331	604161.0002	HYPOGONADOTROPIC HYPOGONADISM
chr19	871707	871708	KISS1R	ARG	PRO	386	604161.0006	PRECOCIOUS PUBERTY, CENTRAL
chr19	871745	871746	KISS1R	TER	ARG	399	604161.0003	HYPOGONADOTROPIC HYPOGONADISM
chr19	1158019	1158020	STK11	TYR	TER	36	602216.0015	PANCREATIC CANCER, SPORADIC
chr19	1158056	1158057	STK11	TYR	ASP	49	602216.0019	MELANOMA, SPORADIC MALIGNANT
chr19	1158080	1158081	STK11	GLU	TER	57	602216.0010	PEUTZ-JEGHERS SYNDROME
chr19	1158111	1158112	STK11	LEU	PRO	67	602216.0008	PEUTZ-JEGHERS SYNDROME
chr19	1158161	1158162	STK11	LYS	TER	84	602216.0006	PEUTZ-JEGHERS SYNDROME
chr19	1170350	1170351	STK11	GLY	ARG	135	602216.0020	MELANOMA, SPORADIC MALIGNANT
chr19	1171394	1171395	STK11	GLY	ASP	163	602216.0011	TESTICULAR TUMOR, SOMATIC
chr19	1171486	1171487	STK11	ASP	TYR	194	602216.0013	MELANOMA, SPORADIC MALIGNANT
chr19	1171698	1171699	STK11	TRP	CYS	239	602216.0021	PEUTZ-JEGHERS SYNDROME
chr19	1172214	1172215	STK11	TYR	TER	246	602216.0023	PEUTZ-JEGHERS SYNDROME
chr19	1172235	1172236	STK11	TYR	TER	253	602216.0002	PEUTZ-JEGHERS SYNDROME
chr19	1174122	1174125	STK11	PHE	LEU	354	602216.0024	PEUTZ-JEGHERS SYNDROME
chr19	1342004	1342005	NDUFS7	VAL	MET	122	601825.0001	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
chr19	1342142	1342143	NDUFS7	ARG	HIS	145	601825.0002	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
chr19	1349978	1349979	GAMT	CYS	TYR	169	601240.0004	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
chr19	1352327	1352328	GAMT	MET	LEU	50	601240.0005	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
chr19	1352416	1352417	GAMT	TRP	SER	20	601240.0003	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
chr19	2201665	2201666	AMH	ARG	TER	191	600957.0003	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I
chr19	2385026	2385027	LMNB2	ALA	THR	407	150341.0003	LIPODYSTROPHY, PARTIAL, ACQUIRED
chr19	2386149	2386150	LMNB2	ARG	GLN	215	150341.0002	LIPODYSTROPHY, PARTIAL, ACQUIRED
chr19	3551453	3551454	TBXA2R	ARG	LEU	60	188070.0001	BLEEDING DISORDER DUE TO DEFECTIVE THROMBOXANE A2 RECEPTOR
chr19	3604451	3604452	PIP5K1C	ASP	ASN	253	606102.0001	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
chr19	3864789	3864792	ATCAY	SER	ARG	301	608179.0001	CAYMAN ATAXIA
chr19	4061556	4061557	MAP2K2	TYR	HIS	134	601263.0003	CARDIOFACIOCUTANEOUS SYNDROME
chr19	4068549	4068550	MAP2K2	PHE	CYS	57	601263.0001	CARDIOFACIOCUTANEOUS SYNDROME
chr19	4068550	4068551	MAP2K2	PHE	VAL	57	601263.0002	CARDIOFACIOCUTANEOUS SYNDROME
chr19	5782839	5782840	FUT6	GLU	LYS	247	136836.0001	FUCOSYLTRANSFERASE-6 DEFICIENCY, PLASMA, INDONESIAN TYPE
chr19	5795342	5795343	FUT3	GLY	SER	170	111100.0001	Le(-) PHENOTYPE
chr19	5795791	5795792	FUT3	LEU	ARG	20	111100.0001	Le(-) PHENOTYPE
chr19	6669386	6669387	C3	ARG	GLY	102	120700.0001	MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO C3S/C3F POLYMORPHISM
chr19	7121652	7121653	INSR	LYS	GLU	460	147670.0002	DONOHUE SYNDROME
chr19	7125602	7125603	INSR	ARG	TER	372	147670.0022	DONOHUE SYNDROME
chr19	7135602	7135603	INSR	LEU	PRO	233	147670.0010	DONOHUE SYNDROME
chr19	7497390	7497391	MCOLN1	ARG	TER	102	605248.0006	MUCOLIPIDOSIS IV
chr19	7499805	7499806	MCOLN1	ASP	TYR	362	605248.0005	MUCOLIPIDOSIS IV
chr19	7500058	7500059	MCOLN1	ARG	CYS	403	605248.0007	MUCOLIPIDOSIS IV
chr19	7527392	7527393	PNPLA6	MET	VAL	1012	603197.0001	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
chr19	7612966	7612967	STXBP2	LEU	PRO	209	601717.0004	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5
chr19	7617207	7617208	STXBP2	PRO	LEU	477	601717.0001	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5
chr19	8335322	8335323	ANGPTL4	GLU	LYS	40	605910.0001	REDUCED TRIGLYCERIDES, SUSCEPTIBILITY TO
chr19	8560185	8560186	ADAMTS10	GLY	CYS	700	608990.0007	WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
chr19	8563680	8563681	ADAMTS10	GLY	ASP	518	608990.0006	WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
chr19	8567958	8567959	ADAMTS10	GLN	TER	318	608990.0005	WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
chr19	8571912	8571913	ADAMTS10	ARG	TER	237	608990.0001	WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
chr19	8576522	8576523	ADAMTS10	ALA	THR	25	608990.0004	WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
chr19	10765474	10765475	DNM2	GLY	ARG	358	602378.0012	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
chr19	10765504	10765505	DNM2	GLU	LYS	368	602378.0007	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
chr19	10765507	10765508	DNM2	ARG	TRP	369	602378.0005	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
chr19	10765508	10765509	DNM2	ARG	GLN	369	602378.0004	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
chr19	10770218	10770219	DNM2	ARG	TRP	465	602378.0006	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
chr19	10783990	10783991	DNM2	GLY	CYS	533	602378.0008	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
chr19	10791667	10791668	DNM2	LYS	GLU	558	602378.0002	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA
chr19	10791692	10791693	DNM2	LEU	HIS	566	602378.0009	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
chr19	10795537	10795538	DNM2	SER	LEU	619	602378.0010	MYOPATHY, CENTRONUCLEAR
chr19	10795537	10795538	DNM2	SER	TRP	619	602378.0011	MYOPATHY, CENTRONUCLEAR
chr19	11077139	11077140	LDLR	GLY	GLY	186	606945.0066	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT
chr19	11349726	11349727	EPOR	ASN	SER	487	133171.0003	ERYTHROCYTOSIS, FAMILIAL, 1 ERYTHROLEUKEMIA, INCLUDED
chr19	11349871	11349874	EPOR	TRP	TER	439	133171.0001	ERYTHROCYTOSIS, FAMILIAL, 1
chr19	11349908	11349909	EPOR	TYR	TER	426	133171.0006	ERYTHROCYTOSIS, FAMILIAL, 1
chr19	11420737	11420738	PRKCSH	TYR	TER	422	177060.0005	POLYCYSTIC LIVER DISEASE
chr19	12621231	12621232	MAN2B1	ARG	TER	760	609458.0002	ALPHA-MANNOSIDOSIS, TYPE II
chr19	12621745	12621746	MAN2B1	ARG	TRP	750	609458.0004	ALPHA-MANNOSIDOSIS, TYPE II
chr19	12624189	12624190	MAN2B1	GLN	TER	639	609458.0003	ALPHA-MANNOSIDOSIS, TYPE II
chr19	12630283	12630284	MAN2B1	PRO	ARG	356	609458.0005	ALPHA-MANNOSIDOSIS, TYPE I
chr19	12778595	12778596	RNASEH2A	GLY	SER	37	606034.0001	AICARDI-GOUTIERES SYNDROME 4
chr19	12857148	12857149	KLF1	HIS	TYR	299	600599.0004	BLOOD GROUP--LUTHERAN INHIBITOR
chr19	12857169	12857170	KLF1	LYS	TER	292	600599.0003	BLOOD GROUP--LUTHERAN INHIBITOR
chr19	12868062	12868063	GCDH	ARG	PRO	227	608801.0009	GLUTARIC ACIDEMIA I
chr19	12868747	12868748	GCDH	ALA	THR	293	608801.0007	GLUTARIC ACIDEMIA I
chr19	12868753	12868754	GCDH	TYR	HIS	295	608801.0001	GLUTARIC ACIDEMIA I
chr19	12869526	12869527	GCDH	GLU	LYS	365	608801.0005	GLUTARIC ACIDEMIA I
chr19	12869631	12869632	GCDH	VAL	MET	400	608801.0008	GLUTARIC ACIDEMIA I
chr19	12869637	12869638	GCDH	ARG	TRP	402	608801.0004	GLUTARIC ACIDEMIA I
chr19	12871284	12871285	GCDH	THR	ILE	416	608801.0003	GLUTARIC ACIDEMIA I
chr19	12871299	12871300	GCDH	ALA	VAL	421	608801.0002	GLUTARIC ACIDEMIA I
chr19	13275389	13275390	CACNA1A	ASP	GLU	715	601011.0010	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA MIGRAINE, FAMILIAL HEMIPLEGIC, 1, INCLUDED
chr19	13275389	13275390	CACNA1A	ARG	HIS	1666	601011.0011	EPISODIC ATAXIA, TYPE 2
chr19	13275393	13275394	CACNA1A	VAL	ALA	714	601011.0003	MIGRAINE, FAMILIAL HEMIPLEGIC, 1
chr19	13275690	13275691	CACNA1A	THR	MET	666	601011.0002	MIGRAINE, FAMILIAL HEMIPLEGIC, 1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED
chr19	13275690	13275691	CACNA1A	THR	MET	666	601011.0002	 MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED
chr19	13280265	13280266	CACNA1A	ARG	GLN	583	601011.0018	MIGRAINE, FAMILIAL HEMIPLEGIC, 1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED
chr19	13280265	13280266	CACNA1A	ARG	GLN	583	601011.0018	 MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED
chr19	13280265	13280266	CACNA1A	ARG	GLN	583	601011.0018	 SPINOCEREBELLAR ATAXIA 6, INCLUDED
chr19	13331520	13331521	CACNA1A	GLY	ARG	293	601011.0009	SPINOCEREBELLAR ATAXIA 6 EPISODIC ATAXIA, TYPE 2, INCLUDED
chr19	13331537	13331538	CACNA1A	CYS	TYR	287	601011.0025	EPISODIC ATAXIA, TYPE 2
chr19	13337261	13337262	CACNA1A	SER	LEU	218	601011.0017	MIGRAINE, FAMILIAL HEMIPLEGIC, 1
chr19	13343557	13343558	CACNA1A	ARG	GLN	192	601011.0001	MIGRAINE, FAMILIAL HEMIPLEGIC, 1
chr19	15152575	15152576	NOTCH3	ALA	PRO	1020	600276.0010	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr19	15160814	15160815	NOTCH3	CYS	ARG	455	600276.0006	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr19	15163276	15163277	NOTCH3	ARG	CYS	332	600276.0007	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr19	15163905	15163906	NOTCH3	ARG	CYS	182	600276.0003	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr19	15163944	15163945	NOTCH3	ARG	CYS	169	600276.0002	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr19	15164052	15164053	NOTCH3	ARG	CYS	133	600276.0008	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr19	15164314	15164315	NOTCH3	TRP	CYS	71	600276.0001	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
chr19	15512316	15512317	CYP4F22	ARG	HIS	243	611495.0003	ICHTHYOSIS, LAMELLAR, 3
chr19	15520980	15520981	CYP4F22	HIS	TYR	435	611495.0001	ICHTHYOSIS, LAMELLAR, 3
chr19	15520983	15520984	CYP4F22	HIS	ASP	436	611495.0002	ICHTHYOSIS, LAMELLAR, 3
chr19	17788753	17788754	INSL3	ARG	HIS	102	146738.0004	CRYPTORCHIDISM
chr19	17788754	17788755	INSL3	ARG	CYS	102	146738.0003	CRYPTORCHIDISM
chr19	17788780	17788781	INSL3	PRO	LEU	93	146738.0002	CRYPTORCHIDISM
chr19	17809746	17809747	JAK3	CYS	TER	565	600173.0004	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
chr19	17811393	17811394	JAK3	ARG	TER	445	600173.0005	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
chr19	17814894	17814895	JAK3	ASP	GLU	169	600173.0006	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
chr19	17815594	17815595	JAK3	TYR	CYS	100	600173.0001	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
chr19	17844404	17844405	SLC5A5	GLY	ARG	93	601843.0005	THYROID DYSHORMONOGENESIS 1
chr19	17849631	17849632	SLC5A5	GLN	GLU	267	601843.0003	THYROID DYSHORMONOGENESIS 1
chr19	17849648	17849649	SLC5A5	CYS	TER	272	601843.0002	THYROID DYSHORMONOGENESIS 1
chr19	17853769	17853770	SLC5A5	THR	PRO	354	601843.0001	THYROID DYSHORMONOGENESIS 1
chr19	17853968	17853969	SLC5A5	GLY	ARG	395	601843.0007	THYROID DYSHORMONOGENESIS 1
chr19	17860205	17860206	SLC5A5	TYR	TER	531	601843.0004	THYROID DYSHORMONOGENESIS 1
chr19	17860240	17860241	SLC5A5	GLY	GLU	543	601843.0006	THYROID DYSHORMONOGENESIS 1
chr19	18041418	18041419	IL12RB1	GLN	TER	376	601604.0002	MYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO
chr19	18047621	18047622	IL12RB1	ARG	TRP	213	601604.0004	MYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO
chr19	18047666	18047667	IL12RB1	CYS	ARG	198	601604.0007	MYCOBACTERIAL INFECTIONS, SUSCEPTIBILITY TO
chr19	18055271	18055272	IL12RB1	GLN	TER	32	601604.0001	MYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO
chr19	18566147	18566148	CRLF1	LEU	ARG	374	604237.0002	COLD-INDUCED SWEATING SYNDROME 1
chr19	18566166	18566167	CRLF1	LYS	TER	368	604237.0007	CRISPONI SYNDROME
chr19	18568727	18568728	CRLF1	ARG	TER	277	604237.0009	CRISPONI SYNDROME
chr19	18571529	18571530	CRLF1	ARG	HIS	81	604237.0002	COLD-INDUCED SWEATING SYNDROME 1
chr19	18571545	18571546	CRLF1	TRP	GLY	76	604237.0004	CRISPONI SYNDROME
chr19	18754934	18754935	COMP	GLY	ASP	719	600310.0013	PSEUDOACHONDROPLASIA, SEVERE
chr19	18754938	18754939	COMP	ARG	TRP	718	600310.0017	EPIPHYSEAL DYSPLASIA, MULTIPLE, 1
chr19	18757581	18757582	COMP	ASN	LYS	523	600310.0008	EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MILD
chr19	18757845	18757846	COMP	ASP	GLY	473	600310.0010	PSEUDOACHONDROAPLASIA
chr19	18757849	18757850	COMP	ASP	TYR	472	600310.0001	PSEUDOACHONDROPLASIA
chr19	18757860	18757861	COMP	CYS	TYR	468	600310.0002	PSEUDOACHONDROPLASIA
chr19	18757905	18757906	COMP	ASN	SER	453	600310.0009	EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
chr19	18759392	18759393	COMP	CYS	ARG	348	600310.0014	PSEUDOACHONDROPLASIA
chr19	18759410	18759411	COMP	ASP	TYR	342	600310.0005	EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
chr19	18759452	18759453	COMP	CYS	ARG	328	600310.0006	PSEUDOACHONDROPLASIA
chr19	18840724	18840725	GDF1	CYS	TYR	267	602880.0002	DOUBLE-OUTLET RIGHT VENTRICLE
chr19	18840843	18840844	GDF1	CYS	TER	227	602880.0001	TRANSPOSITION OF GREAT ARTERIES, DEXTRO-LOOPED 3
chr19	18841039	18841040	GDF1	GLY	ASP	162	602880.0003	TETRALOGY OF FALLOT
chr19	19169353	19169354	RFXANK	ASP	VAL	121	603200.0004	BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B
chr19	38026677	38026678	SLC7A9	ARG	TRP	333	604144.0008	CYSTINURIA
chr19	38042677	38042678	SLC7A9	PRO	LEU	261	604144.0010	CYSTINURIA
chr19	38042684	38042685	SLC7A9	GLY	ARG	259	604144.0005	CYSTINURIA
chr19	38044872	38044873	SLC7A9	TYR	CYS	232	604144.0012	CYSTINURIA
chr19	38045227	38045228	SLC7A9	GLY	ARG	195	604144.0004	CYSTINURIA
chr19	38045266	38045267	SLC7A9	ALA	THR	182	604144.0003	CYSTINURIA
chr19	38045302	38045303	SLC7A9	VAL	MET	170	604144.0001	CYSTINURIA
chr19	38046951	38046952	SLC7A9	THR	MET	123	604144.0014	CYSTINURIA
chr19	38047006	38047007	SLC7A9	GLY	ARG	105	604144.0002	CYSTINURIA
chr19	38047478	38047479	SLC7A9	ILE	THR	44	604144.0009	CYSTINURIA
chr19	38484909	38484910	CEBPA	HIS	LEU	84	116897.0003	LEUKEMIA, ACUTE MYELOID, SOMATIC
chr19	38485012	38485013	CEBPA	GLU	TER	50	116897.0002	LEUKEMIA, ACUTE MYELOID, SOMATIC
chr19	38570145	38570146	PEPD	GLU	LYS	412	613230.0009	PROLIDASE DEFICIENCY
chr19	38570214	38570215	PEPD	GLU	LYS	412	613230.0009	PROLIDASE DEFICIENCY
chr19	38570637	38570638	PEPD	GLY	ARG	448	613230.0005	PROLIDASE DEFICIENCY
chr19	38570745	38570746	PEPD	GLU	LYS	412	613230.0009	PROLIDASE DEFICIENCY
chr19	38584600	38584601	PEPD	GLY	ASP	278	613230.0004	PROLIDASE DEFICIENCY
chr19	38584607	38584608	PEPD	ASP	ASN	276	613230.0001	PROLIDASE DEFICIENCY
chr19	38594442	38594443	PEPD	ARG	TER	265	613230.0008	PROLIDASE DEFICIENCY
chr19	38646805	38646806	PEPD	ARG	GLN	184	613230.0003	PROLIDASE DEFICIENCY
chr19	39548069	39548070	GPI	HIS	PRO	20	172400.0006	HEMOLYTIC ANEMIA, CHRONIC, AND NEUROLOGIC DEFICITS, DUE TO GPI DEFICIENCY GPI HOMBURG
chr19	39560316	39560317	GPI	GLY	SER	158	172400.0001	HEMOLYTIC ANEMIA, CHRONIC, DUE TO GPI DEFICIENCY
chr19	39561715	39561716	GPI	THR	MET	224	172400.0005	HEMOLYTIC ANEMIA, CHRONIC, DUE TO GPI DEFICIENCY GPI IWATE
chr19	39576764	39576765	GPI	LEU	PRO	339	172400.0007	HEMOLYTIC ANEMIA, CHRONIC, AND NEUROLOGIC DEFICITS, DUE TO GPI DEFICIENCY GPI HOMBURG
chr19	39582718	39582719	GPI	ASP	ASN	539	172400.0004	HEMOLYTIC ANEMIA, CHRONIC, DUE TO GPI DEFICIENCY GPI FUKUOKA
chr19	40216293	40216294	SCN1B	GLU	GLN	87	600235.0004	CARDIAC CONDUCTION DEFECT, NONSPECIFIC
chr19	40216397	40216398	SCN1B	CYS	TRP	121	600235.0001	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS
chr19	40216569	40216572	SCN1B	TRP	TER	179	600235.0003	BRUGADA SYNDROME 5
chr19	40216569	40216572	SCN1B	TRP	TER	179	600235.0005	CARDIAC CONDUCTION DEFECT, NONSPECIFIC
chr19	40467695	40467696	HAMP	ARG	TER	56	606464.0002	HEMOCHROMATOSIS, JUVENILE
chr19	40467741	40467742	HAMP	GLY	ASP	71	606464.0004	HEMOCHROMATOSIS, JUVENILE, DIGENIC
chr19	41014099	41014100	NPHS1	ARG	TER	1109	602716.0002	NEPHROSIS 1, CONGENITAL, FINNISH TYPE
chr19	41025170	41025171	NPHS1	ASP	VAL	819	602716.0007	NEPHROSIS 1, CONGENITAL, FINNISH TYPE
chr19	41030883	41030884	NPHS1	GLU	LYS	447	602716.0007	NEPHROSIS 1, CONGENITAL, FINNISH TYPE
chr19	41090968	41090969	TYROBP	MET	THR	1	604142.0003	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
chr19	41178179	41178180	SDHAF1	ARG	PRO	55	612848.0002	MITOCHONDRIAL COMPLEX II DEFICIENCY
chr19	41178184	41178185	SDHAF1	GLY	ARG	57	612848.0001	MITOCHONDRIAL COMPLEX II DEFICIENCY
chr19	43447372	43447373	SPINT2	MET	LEU	1	605124.0005	DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC
chr19	43472694	43472695	SPINT2	TYR	CYS	163	605124.0002	DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC
chr19	43626091	43626092	RYR1	ARG	TRP	109	180901.0026	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
chr19	43626690	43626691	RYR1	ARG	CYS	163	180901.0004	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 CENTRAL CORE DISEASE, INCLUDED
chr19	43631191	43631192	RYR1	GLY	ARG	341	180901.0006	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43634329	43634330	RYR1	ILE	MET	403	180901.0005	CENTRAL CORE DISEASE
chr19	43637838	43637839	RYR1	TYR	SER	522	180901.0031	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 CENTRAL CORE DISEASE, INCLUDED
chr19	43640024	43640025	RYR1	ARG	CYS	614	180901.0001	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43677043	43677044	RYR1	ARG	CYS	2163	180901.0010	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43677044	43677045	RYR1	ARG	HIS	2163	180901.0011	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 CENTRAL CORE DISEASE, INCLUDED
chr19	43677058	43677059	RYR1	VAL	MET	2168	180901.0013	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43678762	43678763	RYR1	THR	MET	2206	180901.0014	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43682440	43682441	RYR1	MET	LYS	2423	180901.0027	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
chr19	43682472	43682473	RYR1	GLY	ARG	2434	180901.0007	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43682476	43682477	RYR1	ARG	HIS	2435	180901.0003	CENTRAL CORE DISEASE
chr19	43683133	43683134	RYR1	ARG	CYS	2458	180901.0008	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43683134	43683135	RYR1	ARG	HIS	2458	180901.0009	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43686798	43686799	RYR1	ARG	TRP	2676	180901.0023	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43687836	43687839	RYR1	THR	SER	2787	180901.0023	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43707934	43707935	RYR1	PRO	SER	3527	180901.0021	CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
chr19	43754660	43754661	RYR1	THR	ALA	4637	180901.0030	CENTRAL CORE DISEASE
chr19	43762483	43762484	RYR1	TYR	CYS	4796	180901.0016	CENTRAL CORE DISEASE MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1, INCLUDED
chr19	43762573	43762574	RYR1	THR	ILE	4826	180901.0015	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
chr19	43762882	43762883	RYR1	VAL	ILE	4849	180901.0022	CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, INCLUDED
chr19	43762919	43762920	RYR1	ARG	HIS	4861	180901.0019	CENTRAL CORE DISEASE NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED
chr19	43767468	43767469	RYR1	ILE	THR	4898	180901.0012	CENTRAL CORE DISEASE MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1, INCLUDED
chr19	44686609	44686610	DLL3	ARG	TER	238	602768.0006	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
chr19	44689578	44689579	DLL3	GLY	ASP	385	602768.0003	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
chr19	44689935	44689936	DLL3	GLY	ASP	504	602768.0008	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
chr19	45435725	45435726	AKT2	ARG	HIS	274	164731.0001	DIABETES MELLITUS, TYPE II
chr19	45592890	45592891	PRX	ARG	TER	1070	605725.0008	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F
chr19	45593241	45593242	PRX	ARG	TER	953	605725.0001	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE
chr19	45593953	45593954	PRX	CYS	TER	715	605725.0006	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE
chr19	45594996	45594997	PRX	ARG	TER	368	605725.0003	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE
chr19	45595512	45595513	PRX	ARG	TER	196	605725.0005	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, INCLUDED
chr19	45803513	45803514	LTBP4	CYS	GLY	274	604710.0004	CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES
chr19	45811198	45811199	LTBP4	CYS	TER	857	604710.0003	CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES
chr19	45811674	45811675	LTBP4	CYS	TER	857	604710.0003	CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES
chr19	46044780	46044781	CYP2A6	SER	PRO	224	122720.0003	TEGAFUR, POOR METABOLISM OF CYP2A6*11
chr19	46046372	46046373	CYP2A6	LEU	HIS	160	122720.0001	COUMARIN, POOR METABOLISM OF NICOTINE, POOR METABOLISM OF, INCLUDED
chr19	46046372	46046373	CYP2A6	LEU	HIS	160	122720.0001	 CYP2A6, V1
chr19	46046372	46046373	CYP2A6	LEU	HIS	160	122720.0001	 CYPA6*2
chr19	46539953	46539954	TGFB1	CYS	ARG	225	190180.0001	CAMURATI-ENGELMANN DISEASE
chr19	46539959	46539960	TGFB1	CYS	ARG	223	190180.0005	CAMURATI-ENGELMANN DISEASE
chr19	46539959	46539960	TGFB1	CYS	GLY	223	190180.0006	CAMURATI-ENGELMANN DISEASE
chr19	46539973	46539974	TGFB1	ARG	HIS	218	190180.0002	CAMURATI-ENGELMANN DISEASE
chr19	46539974	46539975	TGFB1	ARG	CYS	218	190180.0003	CAMURATI-ENGELMANN DISEASE
chr19	46550548	46550549	TGFB1	TYR	HIS	81	190180.0004	CAMURATI-ENGELMANN DISEASE
chr19	47056726	47056727	RPS19	VAL	PHE	15	603474.0007	DIAMOND-BLACKFAN ANEMIA
chr19	47057045	47057048	RPS19	TRP	TER	33	603474.0003	DIAMOND-BLACKFAN ANEMIA
chr19	47057112	47057113	RPS19	THR	MET	55	603474.0007	DIAMOND-BLACKFAN ANEMIA
chr19	47057112	47057113	RPS19	GLY	GLN	127	603474.0008	DIAMOND-BLACKFAN ANEMIA
chr19	47064951	47064952	RPS19	ARG	TRP	62	603474.0002	DIAMOND-BLACKFAN ANEMIA
chr19	47065017	47065018	RPS19	ARG	TER	84	603474.0004	DIAMOND-BLACKFAN ANEMIA
chr19	47065017	47065018	RPS19	LEU	GLN	45	603474.0006	DIAMOND-BLACKFAN ANEMIA
chr19	47065047	47065048	RPS19	ARG	TER	94	603474.0001	DIAMOND-BLACKFAN ANEMIA
chr19	47164828	47164829	ATP1A3	ASP	ASN	923	182350.0007	DYSTONIA 12
chr19	47166396	47166397	ATP1A3	ASP	TYR	801	182350.0006	DYSTONIA 12
chr19	47166459	47166462	ATP1A3	PHE	LEU	780	182350.0005	DYSTONIA 12
chr19	47166524	47166525	ATP1A3	ILE	SER	758	182350.0004	DYSTONIA 12
chr19	47174032	47174033	ATP1A3	THR	MET	613	182350.0001	DYSTONIA 12
chr19	47181073	47181074	ATP1A3	GLU	LYS	277	182350.0003	DYSTONIA 12
chr19	47181081	47181082	ATP1A3	ILE	THR	274	182350.0002	DYSTONIA 12
chr19	48707446	48707447	ETHE1	ARG	TRP	163	608451.0001	ENCEPHALOPATHY, ETHYLMALONIC
chr19	48723166	48723167	ETHE1	MET	ILE	1	608451.0002	ENCEPHALOPATHY, ETHYLMALONIC
chr19	50007415	50007416	BCAM	ARG	TER	121	612773.0006	BLOOD GROUP--LUTHERAN NULL
chr19	50008623	50008624	BCAM	ARG	TER	231	612773.0003	BLOOD GROUP--LUTHERAN NULL
chr19	50008643	50008644	BCAM	CYS	TER	237	612773.0005	BLOOD GROUP--LUTHERAN NULL
chr19	50014583	50014584	BCAM	THR	ALA	539	612773.0002	AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)
chr19	50104063	50104064	APOE	ARG	GLN	224	107741.0019	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA APOE2-FUKUOKA
chr19	50143575	50143576	APOC2	MET	VAL	1	608083.0007	APOLIPOPROTEIN C-II (PARIS) HYPERLIPOPROTEINEMIA, TYPE IB, INCLUDED
chr19	50143930	50143931	APOC2	TYR	TER	63	608083.0012	APOLIPOPROTEIN C-II (AUCKLAND) HYPERLIPOPROTEINEMIA, TYPE IB, INCLUDED
chr19	50547320	50547321	ERCC2	GLN	TER	726	126340.0002	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
chr19	50547323	50547324	ERCC2	ALA	PRO	725	126340.0003	TRICHOTHIODYSTROPHY
chr19	50547332	50547333	ERCC2	ARG	TRP	722	126340.0014	TRICHOTHIODYSTROPHY
chr19	50547359	50547360	ERCC2	GLY	ARG	713	126340.0008	TRICHOTHIODYSTROPHY
chr19	50547449	50547450	ERCC2	ARG	TRP	683	126340.0015	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
chr19	50547608	50547609	ERCC2	ASP	ASN	681	126340.0009	CEREBROOCULOFACIOSKELETAL SYNDROME 2
chr19	50547677	50547678	ERCC2	ARG	CYS	658	126340.0007	TRICHOTHIODYSTROPHY
chr19	50547899	50547900	ERCC2	ARG	TRP	616	126340.0010	CEREBROOCULOFACIOSKELETAL SYNDROME XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D, INCLUDED
chr19	50549871	50549874	ERCC2	SER	ARG	541	126340.0005	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
chr19	50552392	50552393	ERCC2	LEU	PRO	485	126340.0013	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
chr19	50552465	50552466	ERCC2	LEU	VAL	461	126340.0001	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D TRICHOTHIODYSTROPHY, INCLUDED
chr19	50563752	50563753	ERCC2	ARG	HIS	112	126340.0006	TRICHOTHIODYSTROPHY XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D, INCLUDED
chr19	50609969	50609972	ERCC1	PHE	LEU	231	126380.0002	CEREBROOCULOFACIOSKELETAL SYNDROME 4
chr19	50614248	50614249	ERCC1	GLN	TER	158	126380.0001	CEREBROOCULOFACIOSKELETAL SYNDROME 4
chr19	50724383	50724384	OPA3	GLN	GLU	105	606580.0003	OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
chr19	50748838	50748839	OPA3	GLN	GLU	105	606580.0003	OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
chr19	50748874	50748875	OPA3	GLY	SER	93	606580.0002	OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
chr19	50961163	50961164	SIX5	THR	MET	552	600963.0004	BRANCHIOOTORENAL SYNDROME 2
chr19	50961963	50961964	SIX5	GLY	ARG	365	600963.0003	BRANCHIOOTORENAL SYNDROME 2
chr19	50962170	50962171	SIX5	ALA	THR	296	600963.0002	BRANCHIOOTORENAL SYNDROME 2
chr19	50963470	50963471	SIX5	ALA	THR	158	600963.0001	BRANCHIOOTORENAL SYNDROME 2
chr19	51950706	51950707	FKRP	ARG	TRP	54	606596.0011	MUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I
chr19	51950781	51950782	FKRP	VAL	MET	79	606596.0012	MUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I
chr19	51950946	51950947	FKRP	ARG	TRP	134	606596.0014	MUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I
chr19	51951207	51951210	FKRP	SER	ARG	221	606596.0008	MUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
chr19	51951309	51951312	FKRP	TRP	TER	255	606596.0013	MUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I
chr19	51951372	51951373	FKRP	LEU	ILE	276	606596.0004	MUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I
chr19	51951445	51951446	FKRP	VAL	ALA	300	606596.0015	MUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I
chr19	51951465	51951466	FKRP	TYR	ASN	307	606596.0016	MUSCLE-EYE-BRAIN DISEASE MUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I, INCLUDED
chr19	51951472	51951473	FKRP	TYR	CYS	309	606596.0001	MUSCULAR DYSTROPHY, CONGENITAL, 1C
chr19	51951492	51951493	FKRP	PRO	THR	316	606596.0007	MUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
chr19	51951499	51951500	FKRP	CYS	TYR	318	606596.0017	WALKER-WARBURG SYNDROME
chr19	51951700	51951701	FKRP	SER	TER	385	606596.0002	MUSCULAR DYSTROPHY, CONGENITAL, 1C
chr19	51951759	51951760	FKRP	VAL	LEU	405	606596.0010	MUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
chr19	51951889	51951890	FKRP	PRO	LEU	448	606596.0003	MUSCULAR DYSTROPHY, CONGENITAL, 1C
chr19	51951910	51951911	FKRP	ALA	ASP	455	606596.0009	MUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
chr19	51951933	51951934	FKRP	ASN	ASP	463	606596.0018	MUSCULAR DYSTROPHY, CONGENITAL, 1C
chr19	51952032	51952033	FKRP	TER	ARG	496	606596.0006	MUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I
chr19	53031331	53031332	CRX	ARG	TRP	41	602225.0005	CONE-ROD DYSTROPHY 2
chr19	53031332	53031333	CRX	ARG	GLN	41	602225.0006	RETINITIS PIGMENTOSA, LATE-ONSET DOMINANT
chr19	53031449	53031450	CRX	GLU	ALA	80	602225.0001	CONE-ROD DYSTROPHY 2
chr19	53034403	53034404	CRX	ARG	TRP	90	602225.0007	LEBER CONGENITAL AMAUROSIS 7
chr19	53316312	53316313	LIG1	ARG	TRP	771	126391.0002	DNA LIGASE I DEFICIENCY
chr19	53316312	53316313	ELANE	ARG	GLN	191	130130.0001	CYCLIC HEMATOPOIESIS
chr19	53328079	53328080	LIG1	GLU	LYS	566	126391.0001	DNA LIGASE I DEFICIENCY
chr19	53945402	53945403	FUT1	TYR	TER	316	211100.0001	BOMBAY PHENOTYPE
chr19	53945524	53945525	FUT1	GLN	TER	276	211100.0003	PARA-BOMBAY PHENOTYPE
chr19	53945625	53945626	FUT1	LEU	ARG	242	211100.0004	BOMBAY PHENOTYPE
chr19	53945859	53945860	FUT1	LEU	HIS	164	211100.0002	PARA-BOMBAY PHENOTYPE
chr19	54150867	54150868	BAX	GLY	ARG	67	600040.0003	LEUKEMIA, T-CELL ACUTE LYMPHOBLASTIC, SOMATIC
chr19	54161385	54161386	FTL	ALA	THR	96	134790.0013	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
chr19	54169726	54169727	GYS1	ARG	TER	462	138570.0001	GLYCOGEN STORAGE DISEASE 0, MUSCLE
chr19	54256449	54256450	NTF4	ARG	GLN	206	162662.0003	GLAUCOMA 1, OPEN ANGLE, O
chr19	54256450	54256451	NTF4	ARG	TRP	206	162662.0002	GLAUCOMA 1, OPEN ANGLE, O
chr19	54256803	54256804	NTF4	ALA	VAL	88	162662.0001	GLAUCOMA 1, OPEN ANGLE, O
chr19	55025858	55025859	MED25	ALA	VAL	335	610197.0001	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2
chr19	55103704	55103705	NUP62	GLN	PRO	391	605815.0001	STRIATONIGRAL DEGENERATION, INFANTILE
chr19	55405453	55405454	MYH14	SER	TER	7	608568.0001	DEAFNESS, AUTOSOMAL DOMINANT 4
chr19	55405792	55405793	MYH14	SER	LEU	120	608568.0005	DEAFNESS, AUTOSOMAL DOMINANT 4
chr19	55439345	55439346	MYH14	GLY	CYS	376	608568.0004	DEAFNESS, AUTOSOMAL DOMINANT 4
chr19	55454278	55454279	MYH14	ARG	SER	726	608568.0003	DEAFNESS, AUTOSOMAL DOMINANT 4
chr19	55466492	55466493	MYH14	LEU	PHE	976	608568.0002	DEAFNESS, AUTOSOMAL DOMINANT 4
chr19	55518679	55518682	KCNC3	PHE	LEU	448	176264.0002	SPINOCEREBELLAR ATAXIA 13
chr19	55518762	55518763	KCNC3	ARG	HIS	420	176264.0001	SPINOCEREBELLAR ATAXIA 13
chr19	56103664	56103667	KLK4	TRP	TER	153	603767.0001	AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE
chr19	56542071	56542072	ETFB	ARG	GLN	164	130410.0001	GLUTARIC ACIDURIA IIB
chr19	56545450	56545451	ETFB	ASP	ASN	128	130410.0003	GLUTARIC ACIDURIA IIB
chr19	56577495	56577496	LIM2	PHE	VAL	105	154045.0001	CATARACT, CORTICAL PULVERULENT, LATE-ONSET
chr19	59005874	59005875	NLRP12	ARG	TER	284	609648.0001	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2
chr19	59084718	59084719	PRKCG	HIS	TYR	101	176980.0001	SPINOCEREBELLAR ATAXIA 14
chr19	59084720	59084721	PRKCG	HIS	GLN	101	176980.0008	SPINOCEREBELLAR ATAXIA 14
chr19	59084770	59084771	PRKCG	GLY	ASP	118	176980.0004	SPINOCEREBELLAR ATAXIA 14
chr19	59084772	59084773	PRKCG	SER	PRO	119	176980.0002	SPINOCEREBELLAR ATAXIA 14
chr19	59084797	59084798	PRKCG	GLN	ARG	127	176980.0005	SPINOCEREBELLAR ATAXIA 14
chr19	59084800	59084801	PRKCG	GLY	ASP	128	176980.0003	SPINOCEREBELLAR ATAXIA 14
chr19	59093165	59093166	PRKCG	SER	GLY	361	176980.0007	SPINOCEREBELLAR ATAXIA 14
chr19	59101793	59101796	PRKCG	PHE	LEU	643	176980.0006	SPINOCEREBELLAR ATAXIA 14
chr19	59318992	59318993	PRPF31	ALA	GLU	194	606419.0005	RETINITIS PIGMENTOSA 11
chr19	59319057	59319058	PRPF31	ALA	PRO	216	606419.0002	RETINITIS PIGMENTOSA 11
chr19	59387198	59387199	TSEN34	ARG	TRP	58	608754.0001	PONTOCEREBELLAR HYPOPLASIA TYPE 2C
chr19	60133750	60133751	NLRP7	ASN	SER	913	609661.0005	HYDATIDIFORM MOLE, RECURRENT
chr19	60139578	60139579	NLRP7	ARG	PRO	693	609661.0004	HYDATIDIFORM MOLE, RECURRENT
chr19	60139579	60139580	NLRP7	ARG	TRP	693	609661.0003	HYDATIDIFORM MOLE, RECURRENT
chr19	60141274	60141275	NLRP7	ARG	PRO	693	609661.0004	HYDATIDIFORM MOLE, RECURRENT
chr19	60141275	60141276	NLRP7	ARG	TRP	693	609661.0003	HYDATIDIFORM MOLE, RECURRENT
chr19	60142704	60142705	NLRP7	ARG	TER	432	609661.0006	HYDATIDIFORM MOLE, RECURRENT
chr19	60340355	60340356	TNNT1	GLU	TER	180	191041.0001	NEMALINE MYOPATHY, 5
chr19	60355030	60355031	TNNI3	LYS	GLN	206	191044.0002	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
chr19	60355060	60355061	TNNI3	ASP	ASN	196	191044.0004	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
chr19	60355071	60355072	TNNI3	ARG	HIS	192	191044.0006	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
chr19	60355077	60355078	TNNI3	ASP	GLY	190	191044.0005	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, INCLUDED
chr19	60355091	60355092	TNNI3	ASN	LYS	185	191044.0013	CARDIOMYOPATHY, DILATED, 1FF
chr19	60357226	60357227	TNNI3	LYS	GLU	178	191044.0007	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
chr19	60357247	60357248	TNNI3	ALA	THR	171	191044.0011	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
chr19	60357325	60357326	TNNI3	ARG	GLY	145	191044.0001	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
chr19	60357325	60357326	TNNI3	ARG	TRP	145	191044.0008	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
chr19	60357327	60357328	TNNI3	LEU	GLN	144	191044.0010	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
chr19	60359418	60359419	TNNI3	PRO	SER	82	191044.0003	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
chr19	60360231	60360232	TNNI3	LYS	GLN	36	191044.0012	CARDIOMYOPATHY, DILATED, 1FF
chr19	62438164	62438165	AURKC	CYS	TYR	229	603495.0002	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA
chr20	895872	895873	RSPO4	CYS	TYR	118	610573.0003	ANONYCHIA CONGENITA
chr20	895906	895907	RSPO4	CYS	ARG	107	610573.0002	ANONYCHIA CONGENITA
chr20	896642	896643	RSPO4	CYS	TYR	73	610573.0004	ANONYCHIA CONGENITA
chr20	896666	896667	RSPO4	GLN	ARG	65	610573.0001	ANONYCHIA CONGENITA
chr20	3011424	3011425	AVP	CYS	GLY	116	192340.0017	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
chr20	3011744	3011745	AVP	VAL	ALA	67	192340.0019	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
chr20	3013300	3013301	AVP	PRO	LEU	7	192340.0016	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
chr20	3141841	3141842	ITPA	PRO	THR	32	147520.0001	INOSINE TRIPHOSPHATASE DEFICIENCY
chr20	3141984	3141985	ITPA	PRO	THR	32	147520.0001	INOSINE TRIPHOSPHATASE DEFICIENCY
chr20	3156904	3156905	SLC4A11	ARG	HIS	869	610206.0008	CORNEAL ENDOTHELIAL DYSTROPHY 2
chr20	3156905	3156906	SLC4A11	ARG	CYS	869	610206.0006	CORNEAL ENDOTHELIAL DYSTROPHY 2
chr20	3156944	3156945	SLC4A11	MET	VAL	856	610206.0016	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
chr20	3156982	3156983	SLC4A11	LEU	PRO	843	610206.0012	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
chr20	3157329	3157330	SLC4A11	ARG	GLN	755	610206.0001	CORNEAL ENDOTHELIAL DYSTROPHY 2
chr20	3157332	3157333	SLC4A11	THR	MET	754	610206.0018	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
chr20	3157597	3157598	SLC4A11	GLY	GLU	709	610206.0017	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
chr20	3158075	3158076	SLC4A11	ARG	TER	605	610206.0004	CORNEAL ENDOTHELIAL DYSTROPHY 2
chr20	3158903	3158904	SLC4A11	SER	LEU	489	610206.0002	CORNEAL ENDOTHELIAL DYSTROPHY 2
chr20	3159160	3159161	SLC4A11	ARG	LYS	488	610206.0011	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
chr20	3159232	3159233	SLC4A11	GLY	ASP	464	610206.0003	CORNEAL ENDOTHELIAL DYSTROPHY 2
chr20	3159599	3159600	SLC4A11	GLU	LYS	399	610206.0020	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
chr20	3162582	3162583	SLC4A11	SER	PRO	213	610206.0015	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
chr20	4628170	4628171	PRNP	PRO	LEU	102	176640.0002	GERSTMANN-STRAUSSLER DISEASE
chr20	4628178	4628179	PRNP	PRO	THR	105	176640.0025	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
chr20	4628178	4628179	PRNP	PRO	SER	105	176640.0027	GERSTMANN-STRAUSSLER DISEASE
chr20	4628179	4628180	PRNP	PRO	LEU	105	176640.0015	GERSTMANN-STRAUSSLER DISEASE
chr20	4628215	4628216	PRNP	ALA	VAL	117	176640.0004	GERSTMANN-STRAUSSLER DISEASE
chr20	4628245	4628246	PRNP	GLY	VAL	127	176640.0028	KURU, PROTECTION AGAINST
chr20	4628250	4628251	PRNP	MET	VAL	129	176640.0005	 APHASIA, PRIMARY PROGRESSIVE, SUSCEPTIBILITY TO, INCLUDED
chr20	4628250	4628251	PRNP	MET	VAL	129	176640.0005	PRION DISEASE, SUSCEPTIBILITY TO ALZHEIMER DISEASE, EARLY-ONSET, SUSCEPTIBILITY TO, INCLUDED
chr20	4628250	4628251	PRNP	MET	VAL	129	176640.0007	CREUTZFELDT-JAKOB DISEASE
chr20	4628257	4628258	PRNP	GLY	VAL	131	176640.0021	GERSTMANN-STRAUSSLER DISEASE
chr20	4628263	4628264	PRNP	ALA	VAL	133	176640.0026	GERSTMANN-STRAUSSLER DISEASE
chr20	4628377	4628378	PRNP	ASN	SER	171	176640.0018	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO, INCLUDED
chr20	4628397	4628398	PRNP	ASP	ASN	178	176640.0007	CREUTZFELDT-JAKOB DISEASE
chr20	4628397	4628398	PRNP	ASP	ASN	178	176640.0010	FATAL FAMILIAL INSOMNIA
chr20	4628403	4628404	PRNP	VAL	ILE	180	176640.0016	CREUTZFELDT-JAKOB DISEASE
chr20	4628412	4628413	PRNP	THR	ALA	183	176640.0022	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
chr20	4628425	4628426	PRNP	HIS	ARG	187	176640.0024	GERSTMANN-STRAUSSLER DISEASE SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES, INCLUDED
chr20	4628458	4628459	PRNP	PHE	SER	198	176640.0011	GERSTMANN-STRAUSSLER DISEASE
chr20	4628463	4628464	PRNP	GLU	LYS	200	176640.0006	CREUTZFELDT-JAKOB DISEASE FATAL FAMILIAL INSOMNIA, INCLUDED
chr20	4628488	4628489	PRNP	ARG	HIS	208	176640.0023	CREUTZFELDT-JAKOB DISEASE
chr20	4628493	4628494	PRNP	VAL	ILE	210	176640.0014	CREUTZFELDT-JAKOB DISEASE
chr20	4628515	4628516	PRNP	GLN	ARG	217	176640.0012	GERSTMANN-STRAUSSLER DISEASE
chr20	4628520	4628521	PRNP	GLU	LYS	219	176640.0019	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST
chr20	4628560	4628561	PRNP	MET	ARG	232	176640.0017	CREUTZFELDT-JAKOB DISEASE DEMENTIA, LEWY BODY, INCLUDED
chr20	5230871	5230872	PROKR2	MET	ILE	323	607123.0005	KALLMANN SYNDROME 3
chr20	5231211	5231212	PROKR2	GLN	ARG	210	607123.0002	KALLMANN SYNDROME 3
chr20	5231322	5231323	PROKR2	LEU	ARG	173	607123.0001	KALLMANN SYNDROME 3
chr20	5242761	5242762	PROKR2	ARG	HIS	85	607123.0003	KALLMANN SYNDROME 3
chr20	6026265	6026266	FERMT1	ARG	TER	288	607900.0006	KINDLER SYNDROME
chr20	6036216	6036217	FERMT1	ARG	TER	271	607900.0005	KINDLER SYNDROME
chr20	6036240	6036241	FERMT1	GLN	TER	263	607900.0002	KINDLER SYNDROME
chr20	10334112	10334115	MKKS	CYS	SER	499	604896.0013	BARDET-BIEDL SYNDROME 6
chr20	10341189	10341190	MKKS	THR	PRO	325	604896.0014	BARDET-BIEDL SYNDROME 1, MODIFIER OF
chr20	10341332	10341333	MKKS	LEU	PRO	277	604896.0008	BARDET-BIEDL SYNDROME 6
chr20	10341370	10341371	MKKS	TYR	TER	264	604896.0006	BARDET-BIEDL SYNDROME 6
chr20	10341438	10341439	MKKS	ALA	SER	242	604896.0001	MCKUSICK-KAUFMAN SYNDROME
chr20	10341912	10341913	MKKS	HIS	TYR	84	604896.0001	MCKUSICK-KAUFMAN SYNDROME
chr20	10341993	10341994	MKKS	THR	ALA	57	604896.0010	BARDET-BIEDL SYNDROME 6
chr20	10342007	10342008	MKKS	GLY	ASP	52	604896.0005	BARDET-BIEDL SYNDROME 6
chr20	10342052	10342053	MKKS	TYR	CYS	37	604896.0003	MCKUSICK-KAUFMAN SYNDROME BARDET-BIEDL SYNDROME 6, INCLUDED
chr20	10581180	10581181	JAG1	GLY	ASP	274	601920.0010	TETRALOGY OF FALLOT
chr20	10585099	10585100	JAG1	CYS	TYR	234	601920.0012	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON
chr20	10587258	10587259	JAG1	ARG	HIS	184	601920.0006	ALAGILLE SYNDROME 1
chr20	10587259	10587260	JAG1	ARG	CYS	184	601920.0005	ALAGILLE SYNDROME 1
chr20	10601625	10601626	JAG1	LEU	SER	37	601920.0011	ALAGILLE SYNDROME 1
chr20	13730297	13730298	C20ORF7	LEU	PRO	229	612360.0001	MITOCHONDRIAL COMPLEX I DEFICIENCY
chr20	18439518	18439519	SEC23B	ARG	TRP	14	610512.0002	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
chr20	18444338	18444339	SEC23B	GLU	LYS	109	610512.0001	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
chr20	18453623	18453624	SEC23B	ARG	TER	217	610512.0006	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
chr20	18454531	18454532	SEC23B	ARG	TER	264	610512.0004	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
chr20	18455151	18455152	SEC23B	ARG	TER	324	610512.0005	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
chr20	18471738	18471739	SEC23B	ARG	TRP	530	610512.0003	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
chr20	22976658	22976659	THBD	PRO	SER	495	188040.0007	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
chr20	22977983	22977984	THBD	ASP	GLY	53	188040.0006	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
chr20	22978014	22978015	THBD	ALA	THR	43	188040.0005	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
chr20	23566426	23566427	CST3	ALA	THR	25	604312.0002	MACULAR DEGENERATION, AGE-RELATED, 11
chr20	25006362	25006363	VSX1	ALA	SER	256	605020.0004	CRANIOFACIAL ANOMALIES, EMPTY SELLA TURCICA, CORNEAL ENDOTHELIAL CHANGES, AND ABNORMAL RETINAL AND AUDITORY BIPOLAR CELLS
chr20	25008078	25008079	VSX1	ARG	TRP	166	605020.0001	KERATOCONUS 1
chr20	25008095	25008096	VSX1	GLY	ASP	160	605020.0002	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
chr20	25008099	25008100	VSX1	LEU	MET	159	605020.0003	KERATOCONUS 1
chr20	25010682	25010683	VSX1	LEU	PRO	17	605020.0005	KERATOCONUS 1
chr20	29696263	29696264	COX4I2	GLU	LYS	138	607976.0001	EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS
chr20	29871796	29871797	MYLK2	ALA	VAL	87	606566.0001	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
chr20	29871820	29871821	MYLK2	ALA	GLU	95	606566.0002	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
chr20	30831877	30831878	DNMT3B	GLN	TER	42	602900.0011	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	30840473	30840474	DNMT3B	SER	PRO	282	602900.0013	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	30851666	30851667	DNMT3B	ALA	THR	603	602900.0008	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	30852382	30852383	DNMT3B	GLY	SER	655	602900.0004	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	30852382	30852383	DNMT3B	LEU	THR	656	602900.0005	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	30853882	30853883	DNMT3B	VAL	GLY	718	602900.0003	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	30853882	30853883	DNMT3B	VAL	GLY	726	602900.0010	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	30856809	30856810	DNMT3B	VAL	GLY	726	602900.0010	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	30859257	30859258	DNMT3B	ASP	GLY	809	602900.0001	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	30859259	30859260	DNMT3B	VAL	MET	810	602900.0002	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	30859326	30859327	DNMT3B	ARG	GLN	832	602900.0012	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
chr20	31461669	31461670	SNTA1	ALA	VAL	390	601017.0001	LONG QT SYNDROME 12
chr20	31902435	31902436	CHMP4B	ASP	VAL	129	610897.0001	CATARACT, POSTERIOR POLAR, 3
chr20	31902530	31902531	CHMP4B	GLU	LYS	161	610897.0002	CATARACT, POSTERIOR POLAR, 3
chr20	32343841	32343842	AHCY	TYR	CYS	143	180960.0002	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE
chr20	32343935	32343938	AHCY	TRP	TER	112	180960.0001	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE
chr20	32983490	32983491	GSS	PRO	LEU	314	601002.0006	GLUTATHIONE SYNTHETASE DEFICIENCY
chr20	32983584	32983585	GSS	ARG	CYS	283	601002.0004	GLUTATHIONE SYNTHETASE DEFICIENCY
chr20	32987074	32987075	GSS	ARG	TRP	267	601002.0003	GLUTATHIONE SYNTHETASE DEFICIENCY
chr20	32988439	32988440	GSS	ASP	GLY	219	601002.0007	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO
chr20	32993951	32993952	GSS	ARG	GLN	164	601002.0001	GLUTATHIONE SYNTHETASE DEFICIENCY
chr20	32994069	32994070	GSS	ARG	CYS	125	601002.0005	GLUTATHIONE SYNTHETASE DEFICIENCY
chr20	33485155	33485156	GDF5	GLU	LYS	491	601146.0014	SYMPHALANGISM, PROXIMAL
chr20	33485165	33485166	GDF5	TYR	TER	487	601146.0016	BRACHYDACTYLY, TYPE C
chr20	33485202	33485203	GDF5	SER	ASN	475	601146.0013	MULTIPLE SYNOSTOSES SYNDROME 2
chr20	33485304	33485305	GDF5	LEU	PRO	441	601146.0005	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY BRACHYDACTYLY, TYPE A2, INCLUDED
chr20	33485307	33485308	GDF5	HIS	LEU	440	601146.0012	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
chr20	33485311	33485312	GDF5	SER	THR	439	601146.0012	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
chr20	33485313	33485314	GDF5	ARG	LEU	438	601146.0011	SYMPHALANGISM, PROXIMAL MULTIPLE SYNOSTOSES SYNDROME 2, INCLUDED
chr20	33485320	33485321	GDF5	PRO	THR	436	601146.0019	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
chr20	33485427	33485428	GDF5	CYS	TYR	400	601146.0003	CHONDRODYSPLASIA, GREBE TYPE
chr20	33485493	33485494	GDF5	ARG	GLN	378	601146.0018	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
chr20	33485508	33485509	GDF5	LEU	ARG	373	601146.0017	SYMPHALANGISM, PROXIMAL
chr20	33485725	33485726	GDF5	ARG	TER	301	601146.0002	BRACHYDACTYLY, TYPE C
chr20	33488605	33488606	GDF5	MET	VAL	173	601146.0008	BRACHYDACTYLY, TYPE C
chr20	34959742	34959743	SAMHD1	GLN	TER	548	606754.0005	AICARDI-GOUTIERES SYNDROME 5
chr20	34981272	34981273	SAMHD1	MET	VAL	254	606754.0007	AICARDI-GOUTIERES SYNDROME 5
chr20	34992576	34992577	SAMHD1	GLY	SER	209	606754.0001	AICARDI-GOUTIERES SYNDROME 5
chr20	34996909	34996910	SAMHD1	GLN	TER	149	606754.0004	AICARDI-GOUTIERES SYNDROME 5
chr20	34996921	34996922	SAMHD1	ARG	TER	145	606754.0002	AICARDI-GOUTIERES SYNDROME 5
chr20	34996986	34996987	SAMHD1	HIS	PRO	123	606754.0006	AICARDI-GOUTIERES SYNDROME 5
chr20	35465175	35465176	SRC	GLN	TER	531	190090.0001	COLON CANCER, ADVANCED
chr20	35465175	35465176	AVP	SER	PHE	56	192340.0014	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
chr20	39163350	39163351	TOP1	GLU	LYS	418	126420.0002	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT
chr20	39176168	39176169	TOP1	ASP	GLY	533	126420.0001	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT
chr20	42682445	42682446	ADA	ALA	VAL	329	608958.0006	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42683136	42683137	ADA	LEU	ARG	304	608958.0005	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42683157	42683158	ADA	PRO	GLN	297	608958.0009	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
chr20	42683175	42683176	ADA	SER	LEU	291	608958.0019	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42684666	42684667	ADA	PRO	LEU	274	608958.0012	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
chr20	42684965	42684966	ADA	THR	ILE	233	608958.0028	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
chr20	42685093	42685094	ADA	GLY	ARG	216	608958.0016	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42685096	42685097	ADA	ALA	THR	215	608958.0015	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
chr20	42685107	42685108	ADA	ARG	HIS	211	608958.0004	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42685108	42685109	ADA	ARG	CYS	211	608958.0014	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
chr20	42687634	42687635	ADA	ARG	HIS	156	608958.0032	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE ONSET
chr20	42687635	42687636	ADA	ARG	CYS	156	608958.0018	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42687647	42687648	ADA	LEU	MET	152	608958.0027	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
chr20	42687655	42687656	ADA	ARG	GLN	149	608958.0011	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
chr20	42688552	42688553	ADA	LEU	PRO	107	608958.0013	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42688556	42688557	ADA	LEU	VAL	106	608958.0029	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADA DEFICIENCY
chr20	42688570	42688571	ADA	ARG	GLN	101	608958.0003	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42688571	42688572	ADA	ARG	TRP	101	608958.0002	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42688582	42688583	ADA	TYR	CYS	97	608958.0029	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADA DEFICIENCY
chr20	42688633	42688634	ADA	LYS	ARG	80	608958.0001	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42688646	42688647	ADA	ARG	TRP	76	608958.0010	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
chr20	42688651	42688652	ADA	GLY	VAL	74	608958.0025	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20	42713640	42713641	ADA	ASP	ASN	8	608958.0021	ADENOSINE DEAMINASE 2 ALLOZYME
chr20	43953759	43953760	CTSA	GLN	ARG	49	613111.0003	GALACTOSIALIDOSIS
chr20	43953806	43953807	CTSA	TRP	ARG	65	613111.0004	GALACTOSIALIDOSIS
chr20	43954035	43954036	CTSA	SER	LEU	90	613111.0005	GALACTOSIALIDOSIS
chr20	43954894	43954895	CTSA	LEU	PRO	208	613111.0010	GALACTOSIALIDOSIS, EARLY INFANTILE
chr20	43955287	43955288	CTSA	LEU	PRO	208	613111.0010	GALACTOSIALIDOSIS, EARLY INFANTILE
chr20	43955322	43955323	CTSA	TYR	ASN	221	613111.0008	GALACTOSIALIDOSIS, LATE INFANTILE
chr20	43956085	43956086	CTSA	TYR	ASN	249	613111.0007	GALACTOSIALIDOSIS
chr20	43959051	43959052	CTSA	MET	THR	378	613111.0012	GALACTOSIALIDOSIS, LATE INFANTILE
chr20	43959781	43959782	CTSA	TYR	CYS	395	613111.0006	GALACTOSIALIDOSIS
chr20	43959828	43959829	CTSA	PHE	VAL	412	613111.0001	GALACTOSIALIDOSIS, LATE INFANTILE
chr20	43960152	43960153	CTSA	LYS	GLU	453	613111.0014	GALACTOSIALIDOSIS, LATE INFANTILE
chr20	44070973	44070974	MMP9	MET	LYS	1	120361.0001	METAPHYSEAL ANADYSPLASIA 2, AUTOSOMAL RECESSIVE
chr20	44184394	44184395	CD40	CYS	ARG	83	109535.0002	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
chr20	44787322	44787325	SLC2A10	SER	ARG	81	606145.0004	ARTERIAL TORTUOSITY SYNDROME
chr20	44787475	44787476	SLC2A10	ARG	TRP	132	606145.0006	ARTERIAL TORTUOSITY SYNDROME
chr20	44787589	44787592	SLC2A10	TRP	TER	170	606145.0001	ARTERIAL TORTUOSITY SYNDROME
chr20	44788357	44788358	SLC2A10	GLY	TRP	426	606145.0005	ARTERIAL TORTUOSITY SYNDROME
chr20	47003520	47003521	ARFGEF2	GLU	LYS	209	605371.0001	PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE
chr20	48998593	48998594	DPM1	ARG	GLY	92	603503.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
chr20	49838835	49838836	SALL4	ARG	TER	905	607343.0011	DUANE-RADIAL RAY SYNDROME
chr20	49838885	49838886	SALL4	HIS	ARG	888	607343.0012	DUANE-RADIAL RAY SYNDROME
chr20	49838955	49838956	SALL4	ARG	TER	865	607343.0005	DUANE-RADIAL RAY SYNDROME
chr20	49840474	49840475	SALL4	GLN	TER	652	607343.0001	DUANE-RADIAL RAY SYNDROME
chr20	49840579	49840580	SALL4	ARG	TER	617	607343.0009	DUANE-RADIAL RAY SYNDROME
chr20	49841905	49841906	SALL4	LYS	TER	175	607343.0008	DUANE-RADIAL RAY SYNDROME
chr20	54394947	54394948	AURKA	PHE	ILE	31	603072.0001	COLON CANCER, SUSCEPTIBILITY TO
chr20	56426779	56426780	VAPB	PRO	SER	56	605704.0001	AMYOTROPHIC LATERAL SCLEROSIS 8 SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, INCLUDED
chr20	56426779	56426780	VAPB	PRO	SER	56	605704.0001	 AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL, INCLUDED
chr20	56848556	56848557	GNAS	MET	VAL	1	139320.0001	PSEUDOHYPOPARATHYROIDISM, TYPE IA
chr20	56861715	56861716	GNAS	MET	VAL	1	139320.0001	PSEUDOHYPOPARATHYROIDISM, TYPE IA
chr20	56861902	56861903	GNAS	MET	VAL	1	139320.0001	PSEUDOHYPOPARATHYROIDISM, TYPE IA
chr20	56862197	56862198	GNAS	LEU	PRO	99	139320.0006	PSEUDOHYPOPARATHYROIDISM, TYPE IA
chr20	56862502	56862503	GNAS	ARG	GLY	201	139320.0021	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC
chr20	56900176	56900177	GNAS	MET	VAL	1	139320.0001	PSEUDOHYPOPARATHYROIDISM, TYPE IA
chr20	56912018	56912019	GNAS	LEU	PRO	99	139320.0006	PSEUDOHYPOPARATHYROIDISM, TYPE IA
chr20	56912018	56912019	GNAS	ARG	CYS	201	139320.0008	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED
chr20	56912146	56912147	GNAS	LEU	PRO	99	139320.0006	PSEUDOHYPOPARATHYROIDISM, TYPE IA
chr20	56913854	56913855	GNAS	ALA	ASP	138	139320.0032	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION
chr20	56917814	56917815	GNAS	ARG	CYS	201	139320.0008	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED
chr20	56917814	56917815	GNAS	ARG	CYS	201	139320.0008	 SEX CORD STROMAL TUMOR, SOMATIC, INCLUDED
chr20	56917814	56917815	GNAS	ARG	HIS	201	139320.0009	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED
chr20	56917814	56917815	GNAS	ARG	SER	201	139320.0013	 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SOMATIC, INCLUDED
chr20	56917814	56917815	GNAS	ARG	SER	201	139320.0013	PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC, INCLUDED
chr20	56917814	56917815	GNAS	ARG	GLY	201	139320.0021	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC
chr20	56917815	56917816	GNAS	ARG	HIS	201	139320.0009	 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SOMATIC, INCLUDED
chr20	56917815	56917816	GNAS	ARG	HIS	201	139320.0009	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC, INCLUDED
chr20	56917815	56917816	GNAS	ARG	HIS	201	139320.0009	 SEX CORD STROMAL TUMOR, SOMATIC, INCLUDED
chr20	56917990	56917991	GNAS	GLN	ARG	227	139320.0010	PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC, INCLUDED
chr20	56917991	56917992	GNAS	GLN	HIS	227	139320.0012	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC
chr20	56917991	56917992	GNAS	ARG	SER	201	139320.0013	PITUITARY TUMOR, GROWTH HORMONE-SECRETING, SOMATIC POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC, INCLUDED
chr20	56918002	56918003	GNAS	ARG	HIS	231	139320.0020	PSEUDOHYPOPARATHYROIDISM, TYPE IA
chr20	56918162	56918165	GNAS	SER	ARG	250	139320.0014	PSEUDOHYPOPARATHYROIDISM, TYPE IA
chr20	56918186	56918187	GNAS	ARG	TRP	258	139320.0016	PSEUDOPSEUDOHYPOPARATHYROIDISM
chr20	56918186	56918187	GNAS	ARG	ALA	258	139320.0017	PSEUDOPSEUDOHYPOPARATHYROIDISM
chr20	56918186	56918187	GNAS	GLN	ALA	170	139320.0018	PSEUDOPSEUDOHYPOPARATHYROIDISM
chr20	56919189	56919190	GNAS	ALA	SER	366	139320.0019	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
chr20	56919266	56919267	GNAS	TYR	TER	391	139320.0036	PSEUDOHYPOPARATHYROIDISM, TYPE IC
chr20	57032828	57032829	TUBB1	ARG	TRP	318	612901.0001	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
chr20	57309310	57309311	EDN3	ALA	THR	17	131242.0004	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
chr20	57329576	57329577	EDN3	CYS	PHE	159	131242.0002	WAARDENBURG-SHAH SYNDROME
chr20	57329607	57329608	EDN3	CYS	TER	169	131242.0007	WAARDENBURG-SHAH SYNDROME
chr20	57332861	57332862	EDN3	ALA	THR	224	131242.0005	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
chr20	60921776	60921777	COL9A3	ARG	TRP	103	120270.0003	INTERVERTEBRAL DISC DISEASE, SUSCEPTIBILITY TO
chr20	61515347	61515348	KCNQ2	LYS	ASN	526	602235.0007	EPILEPSY, BENIGN NEONATAL, 1 EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE, INCLUDED
chr20	61541405	61541406	KCNQ2	ALA	THR	306	602235.0002	EPILEPSY, BENIGN NEONATAL, 1
chr20	61541470	61541471	KCNQ2	TYR	CYS	284	602235.0001	EPILEPSY, BENIGN NEONATAL, 1
chr20	61544278	61544279	KCNQ2	SER	TRP	247	602235.0008	EPILEPSY, BENIGN NEONATAL, 1 EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE, INCLUDED
chr20	61546505	61546506	KCNQ2	ARG	TRP	214	602235.0005	EPILEPSY, BENIGN NEONATAL, 1
chr20	61546525	61546526	KCNQ2	ARG	GLN	207	602235.0011	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA
chr20	61546526	61546527	KCNQ2	ARG	TRP	207	602235.0006	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA
chr20	62150397	62150398	SOX18	CYS	TER	240	601618.0003	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
chr20	62151003	62151004	SOX18	ALA	PRO	104	601618.0001	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
chr20	62151030	62151031	SOX18	TRP	ARG	95	601618.0002	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
chr21	18575326	18575327	PRSS7	ARG	TER	857	606635.0002	ENTEROKINASE DEFICIENCY
chr21	18607162	18607163	PRSS7	SER	TER	712	606635.0001	ENTEROKINASE DEFICIENCY
chr21	18654043	18654044	PRSS7	GLN	TER	261	606635.0003	ENTEROKINASE DEFICIENCY
chr21	26185908	26185909	APP	VAL	GLY	717	104760.0004	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185909	26185910	APP	VAL	LEU	717	104760.0021	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185937	26185938	APP	LYS	ASN	670	104760.0008	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185965	26185966	APP	VAL	GLY	717	104760.0004	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185966	26185967	APP	VAL	ILE	717	104760.0002	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185966	26185967	APP	VAL	PHE	717	104760.0003	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185966	26185967	APP	VAL	LEU	717	104760.0021	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185969	26185970	APP	ILE	VAL	716	104760.0011	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185972	26185973	APP	VAL	MET	715	104760.0012	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185974	26185975	APP	THR	ILE	714	104760.0015	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185975	26185976	APP	THR	ALA	714	104760.0017	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26185978	26185979	APP	ALA	THR	713	104760.0009	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26186002	26186003	APP	LEU	VAL	705	104760.0019	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
chr21	26186037	26186038	APP	GLU	GLY	693	104760.0013	ALZHEIMER DISEASE, FAMILIAL, 1 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT, INCLUDED
chr21	26186038	26186039	APP	GLU	GLN	693	104760.0001	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
chr21	26186038	26186039	APP	VAL	ILE	717	104760.0002	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26186038	26186039	APP	GLU	LYS	693	104760.0014	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
chr21	26186040	26186041	APP	ALA	GLY	692	104760.0005	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
chr21	26186040	26186041	APP	ALA	VAL	673	104760.0022	DEMENTIA, EARLY-ONSET PROGRESSIVE, AUTOSOMAL RECESSIVE
chr21	26191801	26191802	APP	ALA	VAL	673	104760.0022	DEMENTIA, EARLY-ONSET PROGRESSIVE, AUTOSOMAL RECESSIVE
chr21	26191808	26191809	APP	MET	LEU	671	104760.0008	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26191809	26191810	APP	LYS	ASN	670	104760.0008	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	26191824	26191825	APP	GLU	ASP	665	104760.0010	ALZHEIMER DISEASE, FAMILIAL, 1
chr21	31961539	31961540	SOD1	ILE	THR	113	147450.0011	AMYOTROPHIC LATERAL SCLEROSIS 1
chr21	32593155	32593156	MRAP	MET	ILE	1	609196.0006	GLUCOCORTICOID DEFICIENCY 2
chr21	33574069	33574072	IL10RB	TRP	TER	159	123889.0002	INFLAMMATORY BOWEL DISEASE 25
chr21	33721150	33721151	IFNGR2	THR	ASN	168	147569.0002	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
chr21	34664671	34664672	KCNE2	GLN	GLU	9	603796.0001	LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO
chr21	34664725	34664726	KCNE2	ARG	CYS	27	603796.0004	ATRIAL FIBRILLATION, FAMILIAL, 4
chr21	34664807	34664808	KCNE2	MET	THR	54	603796.0002	LONG QT SYNDROME 6
chr21	34664816	34664817	KCNE2	ILE	THR	57	603796.0003	LONG QT SYNDROME 6
chr21	34664824	34664827	KCNE2	PHE	LEU	60	603796.0005	LONG QT SYNDROME 3/6, DIGENIC
chr21	34743549	34743550	KCNE1	ASP	ASN	85	176261.0005	LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
chr21	34743576	34743577	KCNE1	ASP	ASN	76	176261.0003	JERVELL AND LANGE-NIELSEN SYNDROME 2 LONG QT SYNDROME 5, INCLUDED
chr21	34743581	34743582	KCNE1	SER	LEU	74	176261.0004	LONG QT SYNDROME 5
chr21	34743782	34743783	KCNE1	THR	ILE	7	176261.0002	JERVELL AND LANGE-NIELSEN SYNDROME 2
chr21	35093573	35093574	RUNX1	TYR	TER	260	151385.0005	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
chr21	35153651	35153652	RUNX1	ARG	GLN	201	151385.0002	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
chr21	35174764	35174765	RUNX1	ALA	GLU	129	151385.0010	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
chr21	35174831	35174832	RUNX1	ALA	PRO	107	151385.0006	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
chr21	35181032	35181033	RUNX1	LYS	GLU	83	151385.0003	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
chr21	35181107	35181108	RUNX1	HIS	ASN	58	151385.0008	TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME LEUKEMIA, ACUTE MYELOID, M0 SUBTYPE, INCLUDED
chr21	36755562	36755563	CLDN14	GLY	ARG	101	605608.0003	DEAFNESS, AUTOSOMAL RECESSIVE 29
chr21	36755609	36755610	CLDN14	VAL	ASP	85	605608.0002	DEAFNESS, AUTOSOMAL RECESSIVE 29
chr21	37053951	37053952	HLCS	GLY	SER	581	609018.0005	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
chr21	37053981	37053982	HLCS	ASP	ASN	571	609018.0003	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
chr21	37059214	37059215	HLCS	VAL	MET	550	609018.0006	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
chr21	37059340	37059341	HLCS	ARG	TRP	508	609018.0004	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
chr21	37230904	37230905	HLCS	LEU	PRO	237	609018.0002	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
chr21	37230967	37230968	HLCS	LEU	ARG	216	609018.0009	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
chr21	42669029	42669030	TMPRSS3	PRO	LEU	404	605511.0004	DEAFNESS, AUTOSOMAL RECESSIVE 10 DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8, INCLUDED
chr21	42676239	42676240	TMPRSS3	TRP	CYS	251	605511.0003	DEAFNESS, AUTOSOMAL RECESSIVE 10
chr21	42676345	42676346	TMPRSS3	ARG	LEU	216	605511.0005	DEAFNESS, AUTOSOMAL RECESSIVE 10
chr21	43347098	43347099	CBS	LEU	SER	539	236200.0008	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
chr21	43351393	43351394	CBS	SER	LEU	466	236200.0014	THROMBOSIS, HYPERHOMOCYSTEINEMIC
chr21	43352040	43352041	CBS	ASP	ASN	444	236200.0010	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
chr21	43352105	43352106	CBS	PRO	LEU	422	236200.0013	THROMBOSIS, HYPERHOMOCYSTEINEMIC
chr21	43352477	43352478	CBS	LYS	GLU	384	236200.0007	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
chr21	43353706	43353707	CBS	THR	MET	353	236200.0015	HOMOCYSTINURIA
chr21	43356166	43356167	CBS	GLY	SER	307	236200.0001	HOMOCYSTINURIA
chr21	43356252	43356253	CBS	ILE	THR	278	236200.0004	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
chr21	43357109	43357110	CBS	ARG	LYS	266	236200.0009	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
chr21	43358659	43358660	CBS	THR	MET	191	236200.0016	HOMOCYSTINURIA
chr21	43358823	43358824	CBS	VAL	MET	168	236200.0011	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
chr21	43359438	43359439	CBS	PRO	LEU	145	236200.0002	HOMOCYSTINURIA
chr21	43359442	43359443	CBS	GLU	LYS	144	236200.0006	HOMOCYSTINURIA
chr21	43359457	43359458	CBS	GLY	ARG	139	236200.0005	HOMOCYSTINURIA
chr21	43359531	43359532	CBS	ALA	VAL	114	236200.0003	HOMOCYSTINURIA
chr21	43462302	43462305	CRYAA	TRP	TER	9	123580.0002	CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
chr21	43462422	43462423	CRYAA	ARG	CYS	49	123580.0003	CATARACT, AUTOSOMAL DOMINANT NUCLEAR
chr21	43465282	43465283	CRYAA	ARG	CYS	116	123580.0001	CATARACT, ZONULAR CENTRAL NUCLEAR CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA, INCLUDED
chr21	43465283	43465284	CRYAA	ARG	HIS	116	123580.0004	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA
chr21	44018595	44018596	CSTB	GLN	PRO	71	601145.0006	MYCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
chr21	44018605	44018606	CSTB	ARG	TER	68	601145.0002	MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
chr21	44020568	44020569	CSTB	GLY	ARG	4	601145.0004	MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
chr21	44530317	44530318	AIRE	MET	LEU	1	607358.0008	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
chr21	44530973	44530974	AIRE	VAL	GLY	80	607358.0011	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
chr21	44530981	44530982	AIRE	LYS	GLU	83	607358.0002	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
chr21	44530981	44530982	AIRE	ARG	TER	139	607358.0004	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
chr21	44531395	44531396	AIRE	ARG	TER	139	607358.0004	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
chr21	44533996	44533997	AIRE	GLY	TRP	228	607358.0007	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT
chr21	44534083	44534084	AIRE	ARG	TER	257	607358.0001	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
chr21	44535117	44535118	AIRE	MET	LEU	1	607358.0008	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
chr21	45133718	45133719	ITGB2	ARG	CYS	593	600065.0001	LEUKOCYTE ADHESION DEFICIENCY
chr21	45133739	45133740	ITGB2	ARG	TRP	586	600065.0006	LEUKOCYTE ADHESION DEFICIENCY
chr21	45139344	45139345	ITGB2	ASN	SER	351	600065.0008	LEUKOCYTE ADHESION DEFICIENCY
chr21	45144709	45144710	ITGB2	GLY	SER	284	600065.0012	LEUKOCYTE ADHESION DEFICIENCY
chr21	45144742	45144743	ITGB2	GLY	ARG	273	600065.0014	LEUKOCYTE ADHESION DEFICIENCY
chr21	45145988	45145989	ITGB2	LYS	THR	196	600065.0002	LEUKOCYTE ADHESION DEFICIENCY
chr21	45146042	45146043	ITGB2	PRO	LEU	178	600065.0009	LEUKOCYTE ADHESION DEFICIENCY
chr21	45146070	45146071	ITGB2	GLY	ARG	169	600065.0004	LEUKOCYTE ADHESION DEFICIENCY
chr21	45147760	45147761	ITGB2	LEU	PRO	149	600065.0003	LEUKOCYTE ADHESION DEFICIENCY
chr21	45147794	45147795	ITGB2	SER	PRO	138	600065.0013	LEUKOCYTE ADHESION DEFICIENCY
chr21	45147824	45147825	ITGB2	ASP	ASN	128	600065.0010	LEUKOCYTE ADHESION DEFICIENCY
chr21	45755536	45755537	COL18A1	ASP	ASN	1437	120328.0004	KNOBLOCH SYNDROME, TYPE I
chr21	46228744	46228745	COL6A1	LYS	ARG	121	120220.0005	BETHLEM MYOPATHY
chr21	46233461	46233462	COL6A1	GLY	ARG	281	120220.0014	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2
chr21	46233470	46233471	COL6A1	GLY	ARG	284	120220.0012	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
chr21	46233958	46233959	COL6A1	GLY	ARG	290	120220.0013	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
chr21	46235133	46235134	COL6A1	GLY	ASP	341	120220.0004	BETHLEM MYOPATHY
chr21	46246322	46246323	COL6A1	TYR	TER	659	120220.0011	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
chr21	46360258	46360259	COL6A2	GLY	ARG	283	120240.0013	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
chr21	46365931	46365932	COL6A2	ARG	HIS	498	120240.0014	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2
chr21	46370485	46370486	COL6A2	CYS	ARG	777	120240.0012	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
chr21	46370876	46370877	COL6A2	GLN	TER	819	120240.0011	MYOSCLEROSIS, AUTOSOMAL RECESSIVE
chr21	46376628	46376629	COL6A2	PRO	LEU	932	120240.0010	BETHLEM MYOPATHY
chr21	46394470	46394471	FTCD	ARG	PRO	299	606806.0002	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
chr21	46396286	46396287	FTCD	ARG	CYS	135	606806.0001	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
chr22	16941143	16941144	PEX26	MET	THR	1	608666.0005	REFSUM DISEASE, INFANTILE FORM
chr22	16941275	16941276	PEX26	LEU	PRO	45	608666.0006	REFSUM DISEASE, INFANTILE FORM
chr22	16942673	16942674	PEX26	GLY	ARG	89	608666.0002	ZELLWEGER SYNDROME
chr22	16942700	16942701	PEX26	ARG	TRP	98	608666.0001	NEONATAL ADRENOLEUKODYSTROPHY REFSUM DISEASE, INFANTILE FORM, INCLUDED
chr22	17285858	17285859	PRODH	THR	MET	466	606810.0009	HYPERPROLINEMIA, TYPE I SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
chr22	17285892	17285893	PRODH	ALA	SER	455	606810.0005	HYPERPROLINEMIA, TYPE I SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
chr22	17285898	17285899	PRODH	ARG	CYS	453	606810.0002	HYPERPROLINEMIA, TYPE I SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
chr22	17285933	17285934	PRODH	LEU	PRO	441	606810.0004	HYPERPROLINEMIA, TYPE I SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
chr22	17285963	17285964	PRODH	ARG	HIS	431	606810.0007	HYPERPROLINEMIA, TYPE I SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
chr22	17289901	17289902	PRODH	LEU	MET	289	606810.0003	HYPERPROLINEMIA, TYPE I SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4, INCLUDED
chr22	18130795	18130796	TBX1	PHE	TYR	148	602054.0001	CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
chr22	18131746	18131747	TBX1	HIS	GLN	194	602054.0005	VELOCARDIOFACIAL SYNDROME
chr22	18133443	18133444	TBX1	GLY	SER	310	602054.0002	DIGEORGE SYNDROME
chr22	18330262	18330263	COMT	ALA	SER	72	116790.0002	SCHIZOPHRENIA, SUSCEPTIBILITY TO
chr22	18331270	18331271	COMT	VAL	MET	158	116790.0001	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM
chr22	18610068	18610069	RTN4R	ARG	HIS	196	605566.0002	SCHIZOPHRENIA, SUSCEPTIBILITY TO
chr22	18610300	18610301	RTN4R	ARG	TRP	119	605566.0001	SCHIZOPHRENIA, SUSCEPTIBILITY TO
chr22	22245669	22245670	IGLL1	PRO	LEU	142	146770.0002	AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE
chr22	22252313	22252314	IGLL1	GLN	TER	22	146770.0001	AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE
chr22	22459389	22459390	SMARCB1	GLN	TER	12	601607.0005	SCHWANNOMATOSIS
chr22	22459447	22459448	SMARCB1	GLU	VAL	31	601607.0010	SCHWANNOMATOSIS
chr22	22475524	22475525	SMARCB1	GLN	TER	182	601607.0006	SCHWANNOMATOSIS, SOMATIC
chr22	23226178	23226179	UPB1	ARG	PRO	70	606673.0004	BETA-UREIDOPROPIONASE DEFICIENCY
chr22	23226223	23226224	UPB1	ALA	GLU	85	606673.0003	BETA-UREIDOPROPIONASE DEFICIENCY
chr22	23933035	23933036	CRYBB3	GLY	ARG	165	123630.0001	CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
chr22	23957583	23957584	CRYBB2	GLN	TER	155	123620.0001	 CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, INCLUDED
chr22	23957583	23957584	CRYBB2	GLN	TER	155	123620.0001	CATARACT, CONGENITAL, CERULEAN TYPE, 2 CATARACT, COPPOCK-LIKE, INCLUDED
chr22	23957583	23957584	CRYBB2	GLN	TER	155	123620.0001	 CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES, INCLUDED
chr22	25183888	25183889	HPS4	GLN	TER	631	606682.0001	HERMANSKY-PUDLAK SYNDROME 4
chr22	25194521	25194522	HPS4	GLU	TER	222	606682.0008	HERMANSKY-PUDLAK SYNDROME 4
chr22	25194536	25194537	HPS4	ARG	TER	217	606682.0006	HERMANSKY-PUDLAK SYNDROME 4
chr22	25196739	25196740	HPS4	GLN	TER	181	606682.0004	HERMANSKY-PUDLAK SYNDROME 4
chr22	25198356	25198357	HPS4	GLU	TER	138	606682.0007	HERMANSKY-PUDLAK SYNDROME 4
chr22	25325554	25325555	CRYBB1	GLY	TER	220	600929.0001	CATARACT, PULVERULENT
chr22	25351491	25351492	CRYBA4	LEU	PRO	69	123631.0002	MICROPHTHALMIA, ISOLATED, WITH CATARACT 4
chr22	25351566	25351567	CRYBA4	PHE	SER	94	123631.0001	CATARACT, LAMELLAR 2
chr22	27421206	27421207	CHEK2	SER	PHE	428	604373.0014	BREAST CANCER, SUSCEPTIBILITY TO
chr22	27437973	27437974	CHEK2	GLU	TER	239	604373.0010	PROSTATE CANCER, SOMATIC
chr22	27437973	27437974	CHEK2	GLU	LYS	239	604373.0011	PROSTATE CANCER, SOMATIC
chr22	27451014	27451015	CHEK2	ARG	HIS	181	604373.0009	PROSTATE CANCER, SOMATIC
chr22	27451015	27451016	CHEK2	ARG	CYS	181	604373.0008	PROSTATE CANCER, SOMATIC
chr22	27451017	27451018	CHEK2	ARG	HIS	180	604373.0007	PROSTATE CANCER, SOMATIC
chr22	27451086	27451087	CHEK2	ILE	THR	157	604373.0002	 CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO, INCLUDED
chr22	27451086	27451087	CHEK2	ILE	THR	157	604373.0002	LI-FRAUMENI SYNDROME 2 COLORECTAL CANCER, SUSCEPTIBILITY TO, INCLUDED
chr22	27451086	27451087	CHEK2	ILE	THR	157	604373.0002	 PROSTATE CANCER, SUSCEPTIBILITY TO, INCLUDED
chr22	27451241	27451242	CHEK2	ARG	TRP	145	604373.0003	LI-FRAUMENI SYNDROME 2
chr22	27460455	27460456	CHEK2	PRO	LEU	85	604373.0005	OSTEOSARCOMA, SOMATIC
chr22	27460660	27460661	CHEK2	ALA	SER	17	604373.0006	OSTEOSARCOMA, SOMATIC
chr22	28362793	28362794	NF2	ARG	TER	57	607379.0004	MENINGIOMA, SOMATIC
chr22	28362809	28362810	NF2	PHE	SER	62	607379.0016	NEUROFIBROMATOSIS, TYPE II
chr22	28381609	28381610	NF2	GLU	TER	182	607379.0008	NEUROFIBROMATOSIS, TYPE II
chr22	28387301	28387302	NF2	ARG	TER	262	607379.0009	NEUROFIBROMATOSIS, TYPE II
chr22	28394393	28394394	NF2	GLN	TER	320	607379.0010	NEUROFIBROMATOSIS, TYPE II
chr22	28397835	28397836	NF2	ARG	TER	341	607379.0011	NEUROFIBROMATOSIS, TYPE II
chr22	28397893	28397894	NF2	LEU	PRO	360	607379.0001	NEUROFIBROMATOSIS, TYPE II
chr22	28397898	28397899	NF2	GLN	TER	320	607379.0010	NEUROFIBROMATOSIS, TYPE II
chr22	28399353	28399354	NF2	GLN	TER	407	607379.0012	NEUROFIBROMATOSIS, TYPE II
chr22	28400870	28400871	NF2	GLU	TER	463	607379.0013	NEUROFIBROMATOSIS, TYPE II
chr22	28400879	28400880	NF2	ARG	TER	466	607379.0014	NEUROFIBROMATOSIS, TYPE II
chr22	28407431	28407432	NF2	GLU	TER	527	607379.0015	NEUROFIBROMATOSIS, TYPE II
chr22	28407456	28407457	NF2	LEU	PRO	535	607379.0005	NEUROFIBROMATOSIS, TYPE II
chr22	28407465	28407466	NF2	GLN	PRO	538	607379.0006	NEUROFIBROMATOSIS, TYPE II
chr22	30769349	30769350	SLC5A1	ASP	ASN	28	182380.0001	GLUCOSE/GALACTOSE MALABSORPTION
chr22	30769350	30769351	SLC5A1	ASP	GLY	28	182380.0002	GLUCOSE/GALACTOSE MALABSORPTION
chr22	31201053	31201054	FBXO7	THR	MET	22	605648.0004	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE
chr22	31219255	31219256	FBXO7	ARG	GLY	378	605648.0001	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE
chr22	31224439	31224440	FBXO7	ARG	TER	498	605648.0002	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE
chr22	32030419	32030420	LARGE	GLU	LYS	509	603590.0001	MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
chr22	35008745	35008746	MYH9	ARG	TER	1933	160775.0001	MAY-HEGGLIN ANOMALY
chr22	35010465	35010466	MYH9	GLU	LYS	1841	160775.0002	MAY-HEGGLIN ANOMALY
chr22	35018051	35018052	MYH9	ASP	HIS	1424	160775.0005	FECHTNER SYNDROME
chr22	35018051	35018052	MYH9	ASP	ASN	1424	160775.0010	 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INCLUDED
chr22	35018051	35018052	MYH9	ASP	ASN	1424	160775.0010	MAY-HEGGLIN ANOMALY FECHTNER SYNDROME, INCLUDED
chr22	35021060	35021061	MYH9	ARG	CYS	1165	160775.0003	SEBASTIAN SYNDROME
chr22	35021517	35021518	MYH9	THR	ILE	1155	160775.0007	MAY-HEGGLIN ANOMALY
chr22	35031966	35031967	MYH9	ARG	HIS	705	160775.0008	DEAFNESS, AUTOSOMAL DOMINANT 17
chr22	35031975	35031976	MYH9	ARG	HIS	702	160775.0009	ALPORT-LIKE SYNDROME WITH MACROTHROMBOCYTOPENIA EPSTEIN SYNDROME, INCLUDED
chr22	35031976	35031977	MYH9	ARG	CYS	702	160775.0006	 ALPORT-LIKE SYNDROME WITH MACROTHROMBOCYTOPENIA, INCLUDED
chr22	35031976	35031977	MYH9	ARG	CYS	702	160775.0006	FECHTNER SYNDROME EPSTEIN SYNDROME, INCLUDED
chr22	35074940	35074941	MYH9	SER	LEU	96	160775.0012	EPSTEIN SYNDROME
chr22	35074948	35074949	MYH9	ASN	LYS	93	160775.0004	MAY-HEGGLIN ANOMALY
chr22	35796542	35796543	TMPRSS6	ARG	TER	599	609862.0010	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
chr22	35799538	35799539	TMPRSS6	ASP	ASN	521	609862.0006	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
chr22	35801165	35801166	TMPRSS6	GLY	ARG	442	609862.0005	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
chr22	35810324	35810325	TMPRSS6	TYR	TER	393	609862.0009	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
chr22	35810760	35810761	TMPRSS6	TYR	TER	355	609862.0007	IRON-REFRACTORY IRON DEFICIENCY ANEMIA
chr22	35958842	35958843	RAC2	ASP	ASN	57	602049.0001	NEUTROPHIL IMMUNODEFICIENCY SYNDROME
chr22	36449397	36449398	TRIOBP	GLN	TER	297	609761.0003	DEAFNESS, AUTOSOMAL RECESSIVE 28
chr22	36449547	36449548	TRIOBP	ARG	TER	347	609761.0001	DEAFNESS, AUTOSOMAL RECESSIVE 28
chr22	36450249	36450250	TRIOBP	GLN	TER	581	609761.0002	DEAFNESS, AUTOSOMAL RECESSIVE 28
chr22	36450870	36450871	TRIOBP	ARG	TER	788	609761.0004	DEAFNESS, AUTOSOMAL RECESSIVE 28
chr22	36451710	36451711	TRIOBP	ARG	TER	1068	609761.0005	DEAFNESS, AUTOSOMAL RECESSIVE 28
chr22	36451857	36451858	TRIOBP	ARG	TER	1117	609761.0006	DEAFNESS, AUTOSOMAL RECESSIVE 28
chr22	36497632	36497633	TRIOBP	GLN	TER	581	609761.0002	DEAFNESS, AUTOSOMAL RECESSIVE 28
chr22	36699719	36699720	SOX10	GLN	TER	377	602229.0010	WAARDENBURG-SHAH SYNDROME
chr22	36699909	36699910	SOX10	TYR	TER	313	602229.0006	PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
chr22	36700096	36700097	SOX10	SER	TER	251	602229.0007	PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
chr22	36700100	36700101	SOX10	GLN	TER	250	602229.0011	PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
chr22	36703895	36703896	SOX10	TYR	TER	207	602229.0009	WAARDENBURG-SHAH SYNDROME
chr22	36703951	36703952	SOX10	GLU	TER	189	602229.0001	WAARDENBURG-SHAH SYNDROME
chr22	36704046	36704047	SOX10	ALA	VAL	157	602229.0016	WAARDENBURG-SHAH SYNDROME
chr22	36709333	36709334	SOX10	SER	THR	135	602229.0005	YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
chr22	36709488	36709489	SOX10	TYR	TER	83	602229.0002	WAARDENBURG-SHAH SYNDROME
chr22	36838164	36838165	PLA2G6	TYR	TER	790	603604.0001	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
chr22	36838164	36838165	PLA2G6	TYR	TER	790	603604.0006	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
chr22	36838493	36838494	PLA2G6	ARG	TRP	747	603604.0010	DYSTONIA-PARKINSONISM, ADULT-ONSET
chr22	36838510	36838511	PLA2G6	ARG	GLN	741	603604.0009	DYSTONIA-PARKINSONISM, ADULT-ONSET
chr22	36841619	36841620	PLA2G6	ARG	TRP	632	603604.0005	KARAK SYNDROME
chr22	36846819	36846820	PLA2G6	LYS	THR	545	603604.0002	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
chr22	36858931	36858932	PLA2G6	VAL	GLU	310	603604.0003	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
chr22	36871577	36871578	PLA2G6	ALA	THR	80	603604.0008	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
chr22	39084899	39084900	ADSL	ARG	GLN	190	608222.0005	ADENYLOSUCCINASE DEFICIENCY
chr22	39085228	39085229	ADSL	MET	THR	225	608222.0008	ADENYLOSUCCINASE DEFICIENCY
chr22	39086385	39086386	ADSL	LYS	GLU	246	608222.0006	ADENYLOSUCCINASE DEFICIENCY
chr22	39090914	39090915	ADSL	ARG	HIS	426	608222.0002	ADENYLOSUCCINASE DEFICIENCY
chr22	39863717	39863718	EP300	ARG	TER	580	602700.0001	COLORECTAL CANCER
chr22	39867060	39867061	EP300	ARG	TER	648	602700.0003	RUBINSTEIN-TAYBI SYNDROME
chr22	39904322	39904323	EP300	PRO	GLN	2221	602700.0002	COLORECTAL CANCER
chr22	40786988	40786989	NAGA	ARG	GLN	329	104170.0005	KANZAKI DISEASE
chr22	40786989	40786990	NAGA	ARG	TRP	329	104170.0002	KANZAKI DISEASE
chr22	40787001	40787002	NAGA	GLU	LYS	325	104170.0001	SCHINDLER DISEASE, TYPE I
chr22	40792679	40792680	NAGA	GLU	TER	193	104170.0003	KANZAKI DISEASE
chr22	40793085	40793086	NAGA	SER	CYS	160	104170.0004	SCHINDLER DISEASE, TYPE III
chr22	40854978	40854979	CYP2D6	GLY	TER	169	124030.0004	DEBRISOQUINE, POOR METABOLISM OF
chr22	40856637	40856638	CYP2D6	PRO	SER	34	124030.0005	DEBRISOQUINE, POOR METABOLISM OF
chr22	41345753	41345754	CYB5R3	GLY	ASP	292	613213.0017	METHEMOGLOBINEMIA, TYPE I
chr22	41349752	41349753	CYB5R3	ASP	GLY	240	613213.0019	METHEMOGLOBINEMIA, TYPE I
chr22	41349816	41349817	CYB5R3	ARG	TER	219	613213.0007	METHEMOGLOBINEMIA, TYPE II
chr22	41353275	41353276	CYB5R3	CYS	TYR	204	613213.0016	METHEMOGLOBINEMIA, TYPE I
chr22	41353276	41353277	CYB5R3	CYS	ARG	204	613213.0008	METHEMOGLOBINEMIA, TYPE II
chr22	41353623	41353624	CYB5R3	ARG	TER	160	613213.0015	METHEMOGLOBINEMIA, TYPE II
chr22	41354118	41354119	CYB5R3	LEU	PRO	149	613213.0003	METHEMOGLOBINEMIA, TYPE I
chr22	41354182	41354183	CYB5R3	SER	PRO	128	613213.0001	METHEMOGLOBINEMIA, TYPE II
chr22	41354215	41354218	CYB5R3	THR	SER	117	613213.0011	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM
chr22	41356848	41356849	CYB5R3	VAL	MET	106	613213.0004	METHEMOGLOBINEMIA, TYPE I
chr22	41356935	41356936	CYB5R3	GLN	TER	77	613213.0014	METHEMOGLOBINEMIA, TYPE II
chr22	41357335	41357336	CYB5R3	LEU	PRO	73	613213.0013	METHEMOGLOBINEMIA, TYPE I
chr22	41357380	41357381	CYB5R3	ARG	GLN	58	613213.0002	METHEMOGLOBINEMIA, TYPE I
chr22	41419120	41419123	A4GALT	TRP	TER	261	607922.0003	P BLOOD GROUP SYSTEM, p PHENOTYPE
chr22	41419149	41419150	A4GALT	PRO	LEU	251	607922.0002	P BLOOD GROUP SYSTEM, p PHENOTYPE
chr22	41419341	41419342	A4GALT	GLY	ASP	187	607922.0004	P BLOOD GROUP SYSTEM, p PHENOTYPE
chr22	41419353	41419354	A4GALT	MET	LYS	183	607922.0001	P BLOOD GROUP SYSTEM, p PHENOTYPE
chr22	44067758	44067759	UPK3A	GLY	ASP	202	611559.0003	RENAL ADYSPLASIA
chr22	44070217	44070218	UPK3A	PRO	LEU	273	611559.0001	RENAL ADYSPLASIA
chr22	44992937	44992938	PPARA	LEU	VAL	162	170998.0001	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO
chr22	45110326	45110327	TRMU	MET	LYS	1	610230.0005	LIVER FAILURE, ACUTE INFANTILE
chr22	45110352	45110353	TRMU	ALA	SER	10	610230.0001	DEAFNESS, MITOCHONDRIAL, MODIFIER OF
chr22	45112485	45112486	TRMU	TYR	HIS	77	610230.0002	LIVER FAILURE, ACUTE INFANTILE
chr22	45128369	45128370	TRMU	GLY	ASP	272	610230.0004	LIVER FAILURE, ACUTE INFANTILE
chr22	48683714	48683715	ALG12	TYR	TER	414	607144.0006	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
chr22	48689736	48689737	ALG12	LEU	PRO	158	607144.0005	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
chr22	48690117	48690118	ALG12	ARG	GLN	146	607144.0003	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
chr22	48690130	48690131	ALG12	PHE	VAL	142	607144.0001	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
chr22	48690253	48690254	ALG12	GLY	ARG	101	607144.0004	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
chr22	48849043	48849044	MLC1	SER	LEU	280	605908.0001	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
chr22	48857399	48857400	MLC1	TYR	TER	198	605908.0008	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
chr22	48860473	48860474	MLC1	ASN	LYS	141	605908.0005	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
chr22	48860474	48860475	MLC1	ASN	SER	141	605908.0006	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
chr22	48860942	48860943	MLC1	SER	LEU	93	605908.0002	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
chr22	48860946	48860947	MLC1	PRO	SER	92	605908.0007	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
chr22	48865282	48865283	MLC1	GLY	GLU	59	605908.0009	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
chr22	49309032	49309033	SCO2	SER	PHE	225	604272.0003	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
chr22	49309195	49309196	SCO2	ARG	TRP	171	604272.0004	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
chr22	49309288	49309289	SCO2	GLU	LYS	140	604272.0002	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
chr22	49309308	49309309	SCO2	CYS	TYR	133	604272.0007	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
chr22	49309438	49309439	SCO2	ARG	TER	90	604272.0005	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
chr22	49309549	49309550	SCO2	GLN	TER	53	604272.0001	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
chr22	49309600	49309603	SCO2	TRP	TER	36	604272.0008	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
chr22	49311768	49311769	TYMP	GLY	ARG	311	131222.0012	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
chr22	49311932	49311933	TYMP	GLU	ALA	289	131222.0001	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
chr22	49311944	49311945	TYMP	LEU	PRO	285	131222.0014	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
chr22	49312906	49312907	TYMP	VAL	MET	208	131222.0011	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
chr22	49312923	49312924	TYMP	ARG	THR	202	131222.0013	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
chr22	49313865	49313866	TYMP	GLY	SER	153	131222.0008	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
chr22	49313889	49313890	TYMP	GLY	ARG	145	131222.0003	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
chr22	49313889	49313890	TYMP	LYS	SER	222	131222.0004	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
chr22	49314873	49314874	TYMP	ARG	GLN	44	131222.0009	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
chr22	49410506	49410507	ARSA	GLN	TER	486	607574.0040	ARYLSULFATASE A PSEUDODEFICIENCY
chr22	49410685	49410686	ARSA	PRO	LEU	426	607574.0004	 METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED
chr22	49410685	49410686	ARSA	PRO	LEU	426	607574.0004	METACHROMATIC LEUKODYSTROPHY, JUVENILE ARYLSULFATASE A, ALLELE A, INCLUDED
chr22	49410689	49410690	ARSA	PRO	THR	425	607574.0047	METACHROMATIC LEUKODYSTROPHY, JUVENILE
chr22	49410736	49410737	ARSA	THR	ILE	409	607574.0039	METACHROMATIC LEUKODYSTROPHY, MILD
chr22	49410739	49410740	ARSA	THR	ILE	408	607574.0045	METACHROMATIC LEUKODYSTROPHY, ADULT
chr22	49410908	49410909	ARSA	ARG	TRP	390	607574.0037	METACHROMATIC LEUKODYSTROPHY
chr22	49410932	49410933	ARSA	GLU	LYS	382	607574.0036	ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
chr22	49410946	49410947	ARSA	PRO	LEU	377	607574.0035	ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE
chr22	49410967	49410968	ARSA	ARG	GLN	370	607574.0034	METACHROMATIC LEUKODYSTROPHY, MILD
chr22	49410968	49410969	ARSA	ARG	TRP	370	607574.0033	METACHROMATIC LEUKODYSTROPHY, SEVERE
chr22	49411281	49411282	ARSA	ASN	SER	350	607574.0002	ARYLSULFATASE A POLYMORPHISM
chr22	49411326	49411327	ARSA	ASP	VAL	335	607574.0032	METACHROMATIC LEUKODYSTROPHY, SEVERE
chr22	49411447	49411448	ARSA	GLY	CYS	325	607574.0031	ARYLSULFATASE A PSEUDODEFICIENCY
chr22	49411495	49411496	ARSA	GLY	SER	309	607574.0011	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
chr22	49411521	49411522	ARSA	CYS	PHE	300	607574.0046	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
chr22	49411536	49411537	ARSA	SER	TYR	295	607574.0030	METACHROMATIC LEUKODYSTROPHY, SEVERE
chr22	49411558	49411559	ARSA	ARG	CYS	288	607574.0029	METACHROMATIC LEUKODYSTROPHY
chr22	49411564	49411565	ARSA	THR	PRO	286	607574.0043	METACHROMATIC LEUKODYSTROPHY, ADULT
chr22	49411911	49411912	ARSA	THR	MET	274	607574.0027	METACHROMATIC LEUKODYSTROPHY, SEVERE
chr22	49411975	49411976	ARSA	GLU	LYS	253	607574.0044	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
chr22	49411999	49412000	ARSA	GLY	ARG	245	607574.0026	METACHROMATIC LEUKODYSTROPHY, SEVERE
chr22	49412002	49412003	ARSA	ARG	CYS	244	607574.0025	METACHROMATIC LEUKODYSTROPHY
chr22	49412041	49412042	ARSA	PRO	THR	231	607574.0024	METACHROMATIC LEUKODYSTROPHY
chr22	49412134	49412135	ARSA	ALA	VAL	224	607574.0023	METACHROMATIC LEUKODYSTROPHY
chr22	49412170	49412171	ARSA	ALA	VAL	212	607574.0022	METACHROMATIC LEUKODYSTROPHY
chr22	49412269	49412270	ARSA	ILE	SER	179	607574.0008	METACHROMATIC LEUKODYSTROPHY, JUVENILE METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED
chr22	49412296	49412297	ARSA	GLY	ASP	86	607574.0013	METACHROMATIC LEUKODYSTROPHY, SEVERE
chr22	49412300	49412301	ARSA	ASP	ASN	169	607574.0021	ARYLSULFATASE A PSEUDODEFICIENCY
chr22	49412305	49412306	ARSA	PRO	ARG	167	607574.0020	METACHROMATIC LEUKODYSTROPHY
chr22	49412341	49412342	ARSA	PRO	ARG	155	607574.0019	ARYLSULFATASE A PSEUDODEFICIENCY
chr22	49412344	49412345	ARSA	GLY	ASP	154	607574.0018	METACHROMATIC LEUKODYSTROPHY
chr22	49412511	49412512	ARSA	PRO	LEU	136	607574.0016	METACHROMATIC LEUKODYSTROPHY, SEVERE
chr22	49412514	49412515	ARSA	LEU	PRO	135	607574.0042	METACHROMATIC LEUKODYSTROPHY, ADULT
chr22	49412554	49412555	ARSA	GLY	SER	122	607574.0015	METACHROMATIC LEUKODYSTROPHY
chr22	49412622	49412623	ARSA	GLY	ASP	99	607574.0005	METACHROMATIC LEUKODYSTROPHY, ADULT
chr22	49412631	49412632	ARSA	SER	PHE	96	607574.0006	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
chr22	49412661	49412662	ARSA	GLY	ASP	86	607574.0013	METACHROMATIC LEUKODYSTROPHY, SEVERE
chr22	49412661	49412662	ARSA	SER	LEU	96	607574.0014	METACHROMATIC LEUKODYSTROPHY, SEVERE
chr22	49412667	49412668	ARSA	ARG	GLN	84	607574.0010	METACHROMATIC LEUKODYSTROPHY, LATE-ONSET
chr22_random	15024	15025	APOA1	ARG	CYS	173	107680.0001	APOLIPOPROTEIN A-I (MILANO)
chr22_random	15025	15026	APOA1	ARG	PRO	173	107680.0025	AMYLOIDOSIS, CARDIAC AND CUTANEOUS
chrX	515378	515379	SHOX	GLU	TER	102	312865.0011	LERI-WEILL DYSCHONDROSTEOSIS
chrX	515468	515469	SHOX	LEU	VAL	132	312865.0004	LERI-WEILL DYSCHONDROSTEOSIS
chrX	515532	515533	SHOX	ARG	LEU	153	312865.0005	LERI-WEILL DYSCHONDROSTEOSIS
chrX	521570	521571	SHOX	ARG	TRP	168	312865.0008	LANGER MESOMELIC DYSPLASIA LERI-WEILL DYSCHONDROSTEOSIS, INCLUDED
chrX	521585	521586	SHOX	ARG	CYS	173	312865.0007	LERI-WEILL DYSCHONDROSTEOSIS
chrX	521771	521772	SHOX	ARG	TER	195	312865.0001	SHORT STATURE, IDIOPATHIC, X-LINKED
chrX	521785	521786	SHOX	TYR	TER	199	312865.0002	LERI-WEILL DYSCHONDROSTEOSIS
chrX	525368	525369	SHOX	TER	ARG	293	312865.0012	LERI-WEILL DYSCHONDROSTEOSIS
chrX	2862901	2862904	ARSE	TRP	TER	581	300180.0008	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
chrX	2862910	2862911	ARSE	PRO	SER	578	300180.0007	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
chrX	2863167	2863168	ARSE	CYS	TYR	492	300180.0006	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
chrX	2877465	2877466	ARSE	GLY	ARG	245	300180.0005	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
chrX	2881203	2881204	ARSE	GLY	VAL	137	300180.0004	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
chrX	2881264	2881265	ARSE	GLY	ARG	117	300180.0002	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
chrX	2881281	2881282	ARSE	ARG	PRO	111	300180.0003	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
chrX	2886463	2886464	ARSE	ARG	SER	12	300180.0001	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
chrX	7233149	7233150	STS	SER	LEU	341	300747.0003	ICHTHYOSIS, X-LINKED
chrX	7233149	7233150	STS	TRP	PRO	372	300747.0004	ICHTHYOSIS, X-LINKED
chrX	7253396	7253397	STS	TRP	ARG	372	300747.0001	ICHTHYOSIS, X-LINKED
chrX	7262100	7262101	STS	HIS	ARG	444	300747.0005	ICHTHYOSIS, X-LINKED
chrX	7262106	7262107	STS	CYS	TYR	446	300747.0002	ICHTHYOSIS, X-LINKED
chrX	8464892	8464893	KAL1	GLU	LYS	514	308700.0007	KALLMANN SYNDROME 1
chrX	8496292	8496293	KAL1	SER	LEU	396	308700.0012	KALLMANN SYNDROME 1
chrX	8513379	8513380	KAL1	ARG	TER	262	308700.0010	KALLMANN SYNDROME 1
chrX	8513391	8513394	KAL1	TRP	TER	258	308700.0004	KALLMANN SYNDROME 1
chrX	8513394	8513395	KAL1	ARG	TER	257	308700.0003	KALLMANN SYNDROME 1
chrX	8515851	8515854	KAL1	TRP	TER	237	308700.0002	KALLMANN SYNDROME 1
chrX	9671676	9671677	GPR143	THR	LYS	232	300808.0005	ALBINISM, OCULAR, TYPE I
chrX	9687371	9687372	GPR143	SER	ASN	152	300808.0004	ALBINISM, OCULAR, TYPE I
chrX	9687429	9687430	GPR143	TRP	ARG	133	300808.0003	ALBINISM, OCULAR, TYPE I
chrX	9687429	9687430	GPR143	TRP	ARG	133	300808.0006	ALBINISM, OCULAR, TYPE I
chrX	9688850	9688851	GPR143	SER	PHE	89	300808.0009	ALBINISM, OCULAR, TYPE I
chrX	9693753	9693754	GPR143	GLY	ASP	35	300808.0008	ALBINISM, OCULAR, TYPE I
chrX	10377534	10377535	MID1	LEU	PRO	626	300552.0004	OPITZ SYNDROME, X-LINKED
chrX	10410648	10410649	MID1	LEU	PRO	295	300552.0007	OPITZ SYNDROME, X-LINKED
chrX	10495244	10495245	MID1	GLU	TER	115	300552.0005	OPITZ SYNDROME, X-LINKED
chrX	11049014	11049015	HCCS	ARG	TER	197	300056.0002	MICROPHTHALMIA, SYNDROMIC, 7
chrX	11049692	11049693	HCCS	ARG	CYS	217	300056.0003	MICROPHTHALMIA, SYNDROMIC, 7
chrX	11222830	11222831	AMELX	MET	THR	1	300391.0010	AMELOGENESIS IMPERFECTA, X-LINKED 1
chrX	11222839	11222840	AMELX	TRP	SER	4	300391.0011	AMELOGENESIS IMPERFECTA, X-LINKED 1
chrX	11226283	11226284	AMELX	THR	ILE	51	300391.0005	AMELOGENESIS IMPERFECTA, X-LINKED 1
chrX	11226609	11226610	AMELX	PRO	THR	70	300391.0007	AMELOGENESIS IMPERFECTA, X-LINKED 1
chrX	11226699	11226700	AMELX	PRO	THR	70	300391.0007	AMELOGENESIS IMPERFECTA, X-LINKED 1
chrX	11226972	11226973	AMELX	GLU	TER	191	300391.0006	AMELOGENESIS IMPERFECTA, X-LINKED 1
chrX	15259679	15259680	PIGA	TYR	TER	98	311770.0002	PAROXYSMAL NOCTURNAL HEMOGLOBINURIA
chrX	15259810	15259811	PIGA	GLN	TER	55	311770.0005	PAROXYSMAL NOCTURNAL HEMOGLOBINURIA
chrX	15780414	15780415	AP1S2	ARG	TER	52	300629.0002	MENTAL RETARDATION, X-LINKED 59
chrX	15780462	15780463	AP1S2	GLN	TER	36	300629.0001	MENTAL RETARDATION, X-LINKED 59
chrX	17303915	17303916	NHS	GLN	TER	39	300457.0005	NANCE-HORAN SYNDROME
chrX	18492536	18492537	CDKL5	ALA	VAL	40	300203.0009	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
chrX	18503463	18503464	CDKL5	ILE	THR	72	300203.0010	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
chrX	18509982	18509983	CDKL5	CYS	PHE	152	300203.0003	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
chrX	18512364	18512365	CDKL5	ARG	SER	175	300203.0004	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
chrX	18526539	18526540	CDKL5	THR	ILE	288	300203.0011	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
chrX	18526548	18526549	CDKL5	CYS	TYR	291	300203.0012	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
chrX	18556414	18556415	CDKL5	GLN	TER	834	300203.0007	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
chrX	18570052	18570053	RS1	CYS	ARG	223	312700.0008	RETINOSCHISIS 1, X-LINKED, JUVENILE
chrX	18570111	18570112	RS1	PRO	LEU	203	312700.0010	RETINOSCHISIS 1, X-LINKED, JUVENILE
chrX	18575232	18575233	RS1	GLY	ARG	109	312700.0006	RETINOSCHISIS 1, X-LINKED, JUVENILE
chrX	18575252	18575253	RS1	ARG	GLN	102	312700.0011	RETINOSCHISIS 1, X-LINKED, JUVENILE
chrX	18575253	18575254	RS1	ARG	TRP	102	312700.0002	RETINOSCHISIS 1, X-LINKED, JUVENILE
chrX	18575271	18575272	RS1	TRP	ARG	96	312700.0001	RETINOSCHISIS 1, X-LINKED, JUVENILE
chrX	18575336	18575337	RS1	GLY	VAL	74	312700.0005	RETINOSCHISIS 1, X-LINKED, JUVENILE
chrX	18575341	18575342	RS1	GLU	ASP	72	312700.0004	RETINOSCHISIS 1, X-LINKED, JUVENILE
chrX	18575343	18575344	RS1	GLU	LYS	72	312700.0003	RETINOSCHISIS 1, X-LINKED, JUVENILE
chrX	18600071	18600072	RS1	LEU	PRO	13	312700.0007	RETINOSCHISIS 1, X-LINKED, JUVENILE
chrX	18821617	18821618	PHKA2	PRO	LEU	1205	300798.0005	GLYCOGEN STORAGE DISEASE, TYPE IXa1
chrX	18822438	18822439	PHKA2	THR	ILE	1114	300798.0011	GLYCOGEN STORAGE DISEASE, TYPE IXa2
chrX	18825337	18825338	PHKA2	SER	TER	1049	300798.0004	GLYCOGEN STORAGE DISEASE, TYPE IXa1
chrX	18829525	18829526	PHKA2	GLN	TER	1009	300798.0001	GLYCOGEN STORAGE DISEASE, TYPE IXa1
chrX	18836903	18836904	PHKA2	GLN	TER	766	300798.0002	GLYCOGEN STORAGE DISEASE, TYPE IXa1
chrX	18868055	18868056	PHKA2	ASP	GLY	299	300798.0007	GLYCOGEN STORAGE DISEASE, TYPE IXa1
chrX	18873169	18873170	PHKA2	LYS	GLU	189	300798.0015	GLYCOGEN STORAGE DISEASE, TYPE IXa2
chrX	18873177	18873178	PHKA2	ARG	HIS	186	300798.0008	GLYCOGEN STORAGE DISEASE, TYPE IXa2
chrX	18879201	18879202	PHKA2	HIS	PRO	132	300798.0009	GLYCOGEN STORAGE DISEASE, TYPE IXa2
chrX	18879202	18879203	PHKA2	HIS	TYR	132	300798.0010	GLYCOGEN STORAGE DISEASE, TYPE IXa2
chrX	19272104	19272105	PDHA1	ARG	PRO	10	300502.0017	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
chrX	19283396	19283399	PDHA1	PHE	LEU	205	300502.0012	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
chrX	19283431	19283432	PDHA1	LEU	PHE	216	300502.0023	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
chrX	19283510	19283511	PDHA1	TYR	ASN	243	300502.0013	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
chrX	19283737	19283738	PDHA1	ASP	ALA	258	300502.0011	LEIGH SYNDROME, X-LINKED
chrX	19283751	19283752	PDHA1	ARG	GLY	263	300502.0022	LEIGH SYNDROME, X-LINKED
chrX	19285702	19285703	PDHA1	MET	LEU	282	300502.0015	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
chrX	19285721	19285722	PDHA1	ARG	HIS	288	300502.0020	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
chrX	19286958	19286959	PDHA1	ARG	CYS	302	300502.0009	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
chrX	19286997	19286998	PDHA1	ASP	ASN	315	300502.0014	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
chrX	19287651	19287652	PDHA1	ARG	HIS	378	300502.0003	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
chrX	20083473	20083474	RPS6KA3	ARG	GLN	729	300075.0009	COFFIN-LOWRY SYNDROME
chrX	20084182	20084183	RPS6KA3	GLN	TER	689	300075.0008	COFFIN-LOWRY SYNDROME
chrX	20103282	20103283	RPS6KA3	ARG	TRP	383	300075.0010	MENTAL RETARDATION, X-LINKED 19
chrX	20114376	20114377	RPS6KA3	PHE	SER	268	300075.0017	COFFIN-LOWRY SYNDROME
chrX	20115961	20115962	RPS6KA3	SER	ALA	227	300075.0003	COFFIN-LOWRY SYNDROME
chrX	20121552	20121553	RPS6KA3	ILE	LYS	189	300075.0011	COFFIN-LOWRY SYNDROME
chrX	20123169	20123170	RPS6KA3	ARG	TRP	114	300075.0006	COFFIN-LOWRY SYNDROME
chrX	20132141	20132142	RPS6KA3	VAL	PHE	82	300075.0004	COFFIN-LOWRY SYNDROME
chrX	20137345	20137346	RPS6KA3	GLY	VAL	75	300075.0002	COFFIN-LOWRY SYNDROME
chrX	21773245	21773246	MBTPS2	MET	ILE	87	300294.0002	IFAP SYNDROME
chrX	21796511	21796512	MBTPS2	TRP	LEU	226	300294.0005	IFAP SYNDROME
chrX	21808959	21808960	MBTPS2	ARG	HIS	429	300294.0003	IFAP SYNDROME
chrX	21810557	21810558	MBTPS2	PHE	SER	475	300294.0004	IFAP SYNDROME
chrX	21895350	21895351	SMS	GLY	SER	56	300105.0002	MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
chrX	21905164	21905165	SMS	VAL	GLY	132	300105.0003	MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
chrX	22140959	22140960	PHEX	LEU	PRO	555	300550.0007	HYPOPHOSPHATEMIA, X-LINKED
chrX	22140994	22140995	PHEX	ARG	TER	567	300550.0010	HYPOPHOSPHATEMIA, X-LINKED
chrX	24938299	24938300	ARX	GLN	TER	373	300382.0008	LISSENCEPHALY, X-LINKED, 2
chrX	24938311	24938312	ARX	GLU	TER	369	300382.0016	HYDRANENCEPHALY WITH ABNORMAL GENITALIA
chrX	24940974	24940975	ARX	PRO	LEU	353	300382.0003	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
chrX	24941004	24941005	ARX	LEU	GLN	343	300382.0012	LISSENCEPHALY, X-LINKED, 2
chrX	24941034	24941035	ARX	THR	ASN	333	300382.0015	CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
chrX	24941037	24941038	ARX	ARG	HIS	332	300382.0007	LISSENCEPHALY, X-LINKED, 2
chrX	24941176	24941177	ARX	GLY	SER	286	300382.0014	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
chrX	24943677	24943678	ARX	LEU	PRO	33	300382.0013	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
chrX	29883143	29883144	IL1RAPL1	TYR	TER	459	300206.0001	MENTAL RETARDATION, X-LINKED 21
chrX	29883225	29883228	IL1RAPL1	TRP	TER	487	300206.0002	MENTAL RETARDATION, X-LINKED 21
chrX	30232710	30232711	NR0B1	ASN	ILE	440	300473.0008	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30232713	30232714	NR0B1	ILE	SER	439	300473.0020	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30232832	30232833	NR0B1	TYR	TER	399	300473.0027	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30232846	30232847	NR0B1	GLN	TER	395	300473.0009	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236255	30236256	NR0B1	LYS	ASN	382	300473.0016	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236259	30236260	NR0B1	LEU	HIS	381	300473.0023	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236263	30236264	NR0B1	TYR	ASP	380	300473.0025	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236296	30236299	NR0B1	TRP	TER	369	300473.0002	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236511	30236512	NR0B1	LEU	PRO	297	300473.0028	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236528	30236529	NR0B1	TRP	CYS	291	300473.0017	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236554	30236555	NR0B1	GLN	TER	283	300473.0001	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236588	30236589	NR0B1	TYR	TER	271	300473.0010	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236601	30236602	NR0B1	ARG	PRO	267	300473.0004	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236613	30236614	NR0B1	LEU	TER	263	300473.0003	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236698	30236701	NR0B1	TRP	TER	235	300473.0005	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236810	30236811	NR0B1	TYR	TER	197	300473.0021	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30236890	30236893	NR0B1	TRP	TER	171	300473.0006	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30237086	30237087	NR0B1	TRP	CYS	105	300473.0030	MINERALOCORTICOID DEFICIENCY, ISOLATED
chrX	30237128	30237129	NR0B1	TYR	TER	91	300473.0011	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30237292	30237293	NR0B1	GLN	TER	37	300473.0029	ADRENAL HYPOPLASIA, CONGENITAL
chrX	30635621	30635622	GK	ASN	ASP	288	300474.0008	HYPERGLYCEROLEMIA
chrX	30648676	30648677	GK	ARG	TER	413	300474.0005	GLYCEROL KINASE DEFICIENCY, ISOLATED
chrX	30648758	30648759	GK	ASP	VAL	440	300474.0003	GLYCEROL KINASE DEFICIENCY, ISOLATED
chrX	30652161	30652162	GK	TRP	ARG	503	300474.0006	GLYCEROL KINASE DEFICIENCY, ISOLATED
chrX	31097532	31097533	DMD	GLU	TER	772	300377.0017	DUCHENNE MUSCULAR DYSTROPHY
chrX	31105969	31105970	DMD	ALA	VAL	3421	300377.0070	BECKER MUSCULAR DYSTROPHY
chrX	31106788	31106789	DMD	ARG	TER	3381	300377.0067	DUCHENNE MUSCULAR DYSTROPHY
chrX	31106821	31106822	DMD	ARG	TER	3370	300377.0007	DUCHENNE MUSCULAR DYSTROPHY
chrX	31108474	31108475	DMD	CYS	TYR	3340	300377.0026	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
chrX	31110797	31110798	DMD	GLU	TER	250	300377.0037	DUCHENNE MUSCULAR DYSTROPHY
chrX	31110821	31110822	DMD	GLN	TER	242	300377.0036	DUCHENNE MUSCULAR DYSTROPHY
chrX	31134700	31134701	DMD	ARG	TER	3190	300377.0076	DUCHENNE MUSCULAR DYSTROPHY
chrX	31251662	31251663	DMD	SER	TER	3066	300377.0064	DUCHENNE MUSCULAR DYSTROPHY
chrX	31372658	31372659	DMD	ARG	TER	2982	300377.0005	DUCHENNE MUSCULAR DYSTROPHY
chrX	31406318	31406319	DMD	HIS	ARG	2921	300377.0063	BECKER MUSCULAR DYSTROPHY
chrX	31406339	31406340	DMD	GLU	VAL	2910	300377.0061	DUCHENNE MUSCULAR DYSTROPHY
chrX	31406346	31406347	DMD	ASN	ASP	2912	300377.0062	DUCHENNE MUSCULAR DYSTROPHY
chrX	31406351	31406352	DMD	GLU	VAL	2910	300377.0061	DUCHENNE MUSCULAR DYSTROPHY
chrX	31406367	31406368	DMD	ARG	TER	2905	300377.0082	DUCHENNE MUSCULAR DYSTROPHY
chrX	31406390	31406391	DMD	ALA	ASP	168	300377.0033	BECKER MUSCULAR DYSTROPHY
chrX	31607513	31607514	DMD	GLU	TER	2468	300377.0060	DUCHENNE MUSCULAR DYSTROPHY
chrX	31607621	31607622	DMD	GLU	TER	1211	300377.0074	BECKER MUSCULAR DYSTROPHY
chrX	31702137	31702138	DMD	GLU	TER	2468	300377.0060	DUCHENNE MUSCULAR DYSTROPHY
chrX	31764796	31764797	DMD	GLN	TER	2264	300377.0057	DUCHENNE MUSCULAR DYSTROPHY
chrX	31803368	31803369	DMD	GLN	TER	2319	300377.0014	DUCHENNE MUSCULAR DYSTROPHY
chrX	31857731	31857732	DMD	GLU	TER	931	300377.0003	DUCHENNE MUSCULAR DYSTROPHY
chrX	31857755	31857756	DMD	GLN	TER	2264	300377.0057	DUCHENNE MUSCULAR DYSTROPHY
chrX	32145018	32145019	DMD	GLN	TER	2125	300377.0055	DUCHENNE MUSCULAR DYSTROPHY
chrX	32145051	32145052	DMD	LYS	TER	770	300377.0044	DUCHENNE MUSCULAR DYSTROPHY
chrX	32145051	32145052	DMD	LYS	GLU	773	300377.0045	DUCHENNE MUSCULAR DYSTROPHY
chrX	32145099	32145100	DMD	ARG	TER	2098	300377.0054	DUCHENNE MUSCULAR DYSTROPHY
chrX	32238251	32238252	DMD	TYR	TER	1995	300377.0084	DUCHENNE MUSCULAR DYSTROPHY
chrX	32270160	32270161	DMD	ARG	TER	1967	300377.0052	DUCHENNE MUSCULAR DYSTROPHY
chrX	32274003	32274004	DMD	GLN	TER	1851	300377.0004	DUCHENNE MUSCULAR DYSTROPHY
chrX	32274015	32274016	DMD	GLN	TER	1851	300377.0004	DUCHENNE MUSCULAR DYSTROPHY
chrX	32314439	32314440	DMD	GLN	TER	1405	300377.0050	DUCHENNE MUSCULAR DYSTROPHY
chrX	32317642	32317643	DMD	GLN	TER	1472	300377.0051	DUCHENNE MUSCULAR DYSTROPHY
chrX	32339809	32339810	DMD	GLN	TER	1405	300377.0050	DUCHENNE MUSCULAR DYSTROPHY
chrX	32366409	32366410	DMD	ARG	TER	1314	300377.0077	BECKER MUSCULAR DYSTROPHY
chrX	32376624	32376625	DMD	GLU	TER	1211	300377.0074	BECKER MUSCULAR DYSTROPHY
chrX	32376648	32376649	DMD	GLU	TER	1211	300377.0074	BECKER MUSCULAR DYSTROPHY
chrX	32382833	32382834	DMD	GLU	TER	1157	300377.0001	DUCHENNE MUSCULAR DYSTROPHY
chrX	32392712	32392715	DMD	TRP	TER	1063	300377.0049	DUCHENNE MUSCULAR DYSTROPHY
chrX	32396576	32396577	DMD	GLN	TER	1041	300377.0048	DUCHENNE MUSCULAR DYSTROPHY
chrX	32412968	32412969	DMD	GLU	TER	931	300377.0003	DUCHENNE MUSCULAR DYSTROPHY
chrX	32429855	32429856	DMD	LYS	GLU	773	300377.0045	DUCHENNE MUSCULAR DYSTROPHY
chrX	32429858	32429859	DMD	GLU	TER	772	300377.0017	DUCHENNE MUSCULAR DYSTROPHY
chrX	32429864	32429865	DMD	LYS	TER	770	300377.0044	DUCHENNE MUSCULAR DYSTROPHY
chrX	32429870	32429871	DMD	ARG	TER	768	300377.0015	DUCHENNE MUSCULAR DYSTROPHY
chrX	32473347	32473348	DMD	GLN	TER	673	300377.0023	DUCHENNE MUSCULAR DYSTROPHY
chrX	32493780	32493783	DMD	TRP	TER	651	300377.0043	DUCHENNE MUSCULAR DYSTROPHY
chrX	32523907	32523908	DMD	GLN	TER	497	300377.0041	DUCHENNE MUSCULAR DYSTROPHY
chrX	32542384	32542385	DMD	GLY	TER	480	300377.0040	INTERMEDIATE MUSCULAR DYSTROPHY
chrX	32573033	32573034	DMD	GLU	TER	250	300377.0037	DUCHENNE MUSCULAR DYSTROPHY
chrX	32573057	32573058	DMD	GLN	TER	242	300377.0036	DUCHENNE MUSCULAR DYSTROPHY
chrX	32626032	32626033	DMD	THR	ALA	279	300377.0073	CARDIOMYOPATHY, DILATED, 3B
chrX	32627232	32627233	DMD	GLU	TER	250	300377.0037	DUCHENNE MUSCULAR DYSTROPHY
chrX	32627256	32627257	DMD	GLN	TER	242	300377.0036	DUCHENNE MUSCULAR DYSTROPHY
chrX	32627289	32627290	DMD	TYR	ASN	231	300377.0035	BECKER MUSCULAR DYSTROPHY
chrX	32744532	32744533	DMD	ALA	ASP	168	300377.0033	BECKER MUSCULAR DYSTROPHY
chrX	32744602	32744603	DMD	ARG	TER	145	300377.0032	DUCHENNE MUSCULAR DYSTROPHY
chrX	32772831	32772832	DMD	GLN	TER	85	300377.0031	DUCHENNE MUSCULAR DYSTROPHY
chrX	32777766	32777767	DMD	LEU	ARG	54	300377.0020	DUCHENNE MUSCULAR DYSTROPHY
chrX	32777773	32777774	DMD	GLN	TER	60	300377.0029	DUCHENNE MUSCULAR DYSTROPHY
chrX	32777790	32777791	DMD	LEU	ARG	54	300377.0020	DUCHENNE MUSCULAR DYSTROPHY
chrX	37472198	37472199	XK	CYS	ARG	294	314850.0005	MCLEOD SYNDROME
chrX	37472213	37472214	XK	GLN	TER	299	314850.0008	MCLEOD SYNDROME
chrX	37472258	37472261	XK	TRP	TER	314	314850.0007	MCLEOD SYNDROME
chrX	37527761	37527762	CYBB	ARG	TER	73	300481.0004	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
chrX	37536215	37536216	CYBB	HIS	TYR	101	300481.0012	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
chrX	37536216	37536217	CYBB	HIS	ARG	101	300481.0007	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
chrX	37537985	37537986	CYBB	ALA	THR	156	300481.0006	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
chrX	37540284	37540285	CYBB	HIS	TYR	209	300481.0003	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
chrX	37543148	37543149	CYBB	ARG	TER	226	300481.0009	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
chrX	37543202	37543205	CYBB	CYS	SER	244	300481.0005	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
chrX	37548082	37548083	CYBB	HIS	ASN	303	300481.0016	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
chrX	37548086	37548087	CYBB	PRO	ARG	304	300481.0017	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
chrX	37549216	37549217	CYBB	GLY	ALA	389	300481.0002	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
chrX	37549294	37549295	CYBB	PRO	HIS	415	300481.0001	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
chrX	37553800	37553801	CYBB	ASP	GLY	500	300481.0011	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
chrX	38048942	38048943	RPGR	GLY	SER	275	312610.0003	RETINITIS PIGMENTOSA 3
chrX	38054886	38054887	RPGR	PRO	SER	235	312610.0002	RETINITIS PIGMENTOSA 3
chrX	38061614	38061615	RPGR	GLY	ARG	173	312610.0020	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS
chrX	38063105	38063106	RPGR	PHE	CYS	130	312610.0001	RETINITIS PIGMENTOSA 3
chrX	38065237	38065238	RPGR	THR	ASN	99	312610.0009	RETINITIS PIGMENTOSA 3
chrX	38067117	38067118	RPGR	GLY	VAL	60	312610.0006	RETINITIS PIGMENTOSA 3
chrX	38096969	38096970	OTC	ARG	GLN	26	300461.0008	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38111527	38111528	OTC	ARG	CYS	40	300461.0028	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38111528	38111529	OTC	ARG	HIS	40	300461.0029	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38111543	38111544	OTC	LEU	PRO	45	300461.0007	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38111546	38111547	OTC	LYS	ARG	46	300461.0009	ORNITHINE TRANSCARBAMYLASE POLYMORPHISM
chrX	38111557	38111558	OTC	GLY	TER	50	300461.0017	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38114034	38114035	OTC	GLU	LYS	87	300461.0016	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38125571	38125572	OTC	LEU	PRO	111	300461.0004	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38125625	38125626	OTC	ARG	HIS	129	300461.0025	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38145528	38145529	OTC	LEU	PHE	148	300461.0026	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38145544	38145545	OTC	GLU	TER	154	300461.0006	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38145568	38145569	OTC	GLY	ARG	162	300461.0018	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38147890	38147891	OTC	MET	ARG	206	300461.0027	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38147919	38147920	OTC	GLN	GLU	216	300461.0005	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38152948	38152949	OTC	PRO	LEU	225	300461.0015	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	38153183	38153184	OTC	ARG	TRP	277	300461.0014	ORNITHINE TRANSCARBAMYLASE DEFICIENCY
chrX	39816616	39816617	BCOR	ARG	TER	976	300485.0003	MICROPHTHALMIA, SYNDROMIC 2
chrX	39819288	39819289	BCOR	PRO	LEU	85	300485.0001	MICROPHTHALMIA, SYNDROMIC 2
chrX	40341464	40341465	ATP6AP2	ASP	ASP	107	300556.0001	MENTAL RETARDATION, X-LINKED, WITH EPILEPSY
chrX	41217754	41217755	NYX	CYS	TER	35	300278.0003	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1
chrX	41217754	41217755	NYX	ALA	LYS	187	300278.0004	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1
chrX	41217930	41217931	NYX	ARG	PRO	94	300278.0005	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1
chrX	41217951	41217952	NYX	ILE	THR	101	300278.0006	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1
chrX	41218697	41218700	NYX	TRP	TER	350	300278.0002	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1
chrX	41264642	41264643	CASK	TRP	ARG	914	300172.0006	MENTAL RETARDATION, X-LINKED, CASK-RELATED
chrX	41286913	41286914	CASK	ASP	GLY	710	300172.0005	MENTAL RETARDATION, X-LINKED, CASK-RELATED
chrX	41298039	41298040	CASK	ARG	TER	639	300172.0001	MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
chrX	41333740	41333741	CASK	PRO	SER	396	300172.0007	MENTAL RETARDATION, X-LINKED, CASK-RELATED
chrX	41333758	41333759	CASK	PRO	SER	396	300172.0007	MENTAL RETARDATION, X-LINKED, CASK-RELATED
chrX	41404664	41404665	CASK	TYR	HIS	268	300172.0004	MENTAL RETARDATION, X-LINKED, CASK-RELATED
chrX	41597400	41597401	CASK	ARG	LEU	28	300172.0003	FG SYNDROME 4
chrX	43475974	43475975	MAOA	GLN	TER	296	309850.0001	BRUNNER SYNDROME
chrX	43694006	43694007	NDP	CYS	TER	128	300658.0008	NORRIE DISEASE
chrX	43694020	43694021	NDP	LEU	PHE	124	300658.0006	EXUDATIVE VITREORETINOPATHY, X-LINKED
chrX	43694028	43694029	NDP	ARG	LEU	121	300658.0017	EXUDATIVE VITREORETINOPATHY, X-LINKED
chrX	43694029	43694030	NDP	ARG	TRP	121	300658.0010	EXUDATIVE VITREORETINOPATHY, X-LINKED
chrX	43694062	43694063	NDP	CYS	GLY	110	300658.0016	EXUDATIVE VITREORETINOPATHY, X-LINKED
chrX	43694077	43694078	NDP	ALA	THR	105	300658.0015	NORRIE DISEASE
chrX	43694088	43694089	NDP	SER	PHE	101	300658.0021	NORRIE DISEASE
chrX	43694102	43694103	NDP	CYS	TRP	96	300658.0018	NORRIE DISEASE
chrX	43694103	43694104	NDP	CYS	TYR	96	300658.0005	NORRIE DISEASE
chrX	43694121	43694122	NDP	ARG	PRO	90	300658.0001	NORRIE DISEASE
chrX	43694166	43694167	NDP	SER	CYS	75	300658.0002	NORRIE DISEASE
chrX	43694172	43694173	NDP	SER	TER	73	300658.0020	NORRIE DISEASE
chrX	43694185	43694188	NDP	CYS	SER	69	300658.0007	NORRIE DISEASE
chrX	43694209	43694210	NDP	LEU	PHE	61	300658.0012	NORRIE DISEASE
chrX	43694211	43694212	NDP	VAL	GLU	60	300658.0003	NORRIE DISEASE
chrX	43702701	43702702	NDP	VAL	GLU	45	300658.0019	NORRIE DISEASE
chrX	43702704	43702705	NDP	TYR	CYS	44	300658.0004	NORRIE DISEASE
chrX	43702710	43702711	NDP	HIS	ARG	42	300658.0013	EXUDATIVE VITREORETINOPATHY, X-LINKED
chrX	43702797	43702798	NDP	LEU	ARG	13	300658.0011	NORRIE DISEASE
chrX	43702834	43702835	NDP	MET	VAL	1	300658.0009	NORRIE DISEASE
chrX	46245615	46245616	ZNF674	GLU	TER	118	300573.0001	MENTAL RETARDATION, X-LINKED 92
chrX	46581554	46581555	RP2	GLN	TER	26	300757.0002	RETINITIS PIGMENTOSA 2
chrX	46598104	46598105	RP2	ARG	HIS	118	300757.0003	RETINITIS PIGMENTOSA 2
chrX	46598104	46598105	RP2	ARG	LEU	118	300757.0006	RETINITIS PIGMENTOSA 2
chrX	46598109	46598110	RP2	ARG	TER	120	300757.0008	RETINITIS PIGMENTOSA 2
chrX	46598204	46598205	RP2	TYR	TER	151	300757.0004	RETINITIS PIGMENTOSA 2
chrX	47193780	47193781	ZNF41	PRO	LEU	111	314995.0001	MENTAL RETARDATION, X-LINKED 89
chrX	47320565	47320568	SYN1	TRP	TER	356	313440.0001	EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
chrX	47659524	47659525	ZNF81	SER	ASN	179	314998.0001	MENTAL RETARDATION, X-LINKED 45
chrX	48254667	48254668	PORCN	GLY	ARG	60	300651.0002	FOCAL DERMAL HYPOPLASIA
chrX	48254667	48254668	PORCN	ARG	TER	124	300651.0003	FOCAL DERMAL HYPOPLASIA
chrX	48254709	48254712	PORCN	TRP	TER	74	300651.0004	FOCAL DERMAL HYPOPLASIA
chrX	48255263	48255264	PORCN	ARG	TER	124	300651.0003	FOCAL DERMAL HYPOPLASIA
chrX	48267155	48267156	EBP	LEU	PRO	18	300205.0013	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL
chrX	48267187	48267190	EBP	TRP	TER	29	300205.0001	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
chrX	48267289	48267290	EBP	ARG	TER	63	300205.0002	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
chrX	48267340	48267341	EBP	GLU	LYS	80	300205.0003	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
chrX	48270532	48270535	EBP	TRP	TER	129	300205.0009	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
chrX	48270587	48270588	EBP	ARG	HIS	147	300205.0012	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
chrX	48271618	48271619	EBP	GLN	TER	175	300205.0010	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
chrX	48271681	48271684	EBP	TRP	TER	196	300205.0011	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
chrX	48427285	48427286	WAS	ARG	TER	34	300392.0007	WISKOTT-ALDRICH SYNDROME
chrX	48427616	48427617	WAS	THR	MET	45	300392.0010	THROMBOCYTOPENIA, X-LINKED, 1
chrX	48427649	48427650	WAS	ALA	VAL	56	300392.0004	THROMBOCYTOPENIA, X-LINKED, 1
chrX	48427649	48427650	WAS	ALA	GLU	236	300392.0005	THROMBOCYTOPENIA, X-LINKED, 1
chrX	48427655	48427656	WAS	PRO	ARG	58	300392.0013	THROMBOCYTOPENIA, X-LINKED, INTERMITTENT
chrX	48427726	48427727	WAS	SER	PRO	82	300392.0009	WISKOTT-ALDRICH SYNDROME, ATTENUATED
chrX	48427739	48427740	WAS	ARG	LEU	86	300392.0002	WISKOTT-ALDRICH SYNDROME
chrX	48427739	48427740	WAS	ARG	HIS	86	300392.0003	WISKOTT-ALDRICH SYNDROME
chrX	48431663	48431664	WAS	LEU	PRO	270	300392.0012	NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
chrX	48432755	48432756	WAS	ILE	ASN	481	300392.0014	THROMBOCYTOPENIA, X-LINKED, INTERMITTENT
chrX	48535687	48535688	GATA1	VAL	MET	205	305371.0001	DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
chrX	48535721	48535722	GATA1	ARG	GLN	216	305371.0006	THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS
chrX	48535726	48535727	GATA1	ASP	TYR	218	305371.0005	MACROTHROMBOCYTOPENIA, X-LINKED
chrX	48535727	48535728	GATA1	ASP	GLY	218	305371.0002	MACROTHROMBOCYTOPENIA, X-LINKED
chrX	48535727	48535728	GATA1	GLY	SER	208	305371.0003	MACROTHROMBOCYTOPENIA, X-LINKED
chrX	48644164	48644165	PQBP1	TYR	CYS	65	300463.0007	GOLABI-ITO-HALL SYNDROME
chrX	48935130	48935131	SYP	GLY	ARG	217	313475.0004	MENTAL RETARDATION, X-LINKED, SYP-RELATED
chrX	48935130	48935131	AR	ARG	HIS	855	313700.0019	ANDROGEN INSENSITIVITY, PARTIAL
chrX	48971453	48971454	CACNA1F	GLY	ASP	369	300110.0001	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
chrX	48994845	48994846	FOXP3	ARG	TRP	397	300292.0001	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
chrX	48994884	48994885	FOXP3	ALA	THR	384	300292.0004	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
chrX	48994884	48994885	FOXP3	PHE	ALA	373	300292.0009	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
chrX	48994884	48994885	FOXP3	PHE	LYS	324	300292.0010	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
chrX	48995102	48995103	FOXP3	PHE	CYS	371	300292.0003	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
chrX	49001903	49001904	FOXP3	MET	ILE	1	300292.0012	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
chrX	49723947	49723948	CLCN5	GLY	VAL	57	300008.0011	NEPHROLITHIASIS, X-LINKED RECESSIVE
chrX	49733119	49733120	CLCN5	LEU	ARG	200	300008.0003	DENT DISEASE 1
chrX	49737383	49737384	CLCN5	SER	LEU	244	300008.0007	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
chrX	49737431	49737432	CLCN5	GLY	VAL	260	300008.0013	DENT DISEASE 1
chrX	49737754	49737757	CLCN5	TRP	TER	279	300008.0001	DENT DISEASE 1 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS, INCLUDED
chrX	49737758	49737759	CLCN5	ARG	PRO	280	300008.0010	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
chrX	49737946	49737949	CLCN5	TRP	TER	343	300008.0008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
chrX	49740263	49740264	CLCN5	GLY	GLU	506	300008.0006	NEPHROLITHIASIS, X-LINKED RECESSIVE
chrX	49741535	49741536	CLCN5	SER	PRO	520	300008.0004	DENT DISEASE 1
chrX	49742074	49742075	CLCN5	ARG	TER	648	300008.0002	DENT DISEASE 1
chrX	49742242	49742243	CLCN5	ARG	TER	704	300008.0005	NEPHROLITHIASIS, X-LINKED RECESSIVE
chrX	50367615	50367616	SHROOM4	SER	LEU	1089	300579.0001	STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME
chrX	50670724	50670725	BMP15	ARG	TRP	68	300247.0005	PREMATURE OVARIAN FAILURE 4
chrX	50670748	50670749	BMP15	ARG	CYS	76	300247.0002	PREMATURE OVARIAN FAILURE 4
chrX	50675705	50675706	BMP15	ALA	THR	180	300247.0003	PREMATURE OVARIAN FAILURE 4
chrX	50675705	50675706	BMP15	ALA	THR	180	300247.0006	PREMATURE OVARIAN FAILURE 4
chrX	50675871	50675872	BMP15	TYR	CYS	235	300247.0001	OVARIAN DYSGENESIS 2
chrX	53452775	53452776	SMC1A	ARG	HIS	496	300040.0004	CORNELIA DE LANGE SYNDROME 2
chrX	53452784	53452785	SMC1A	GLU	ALA	493	300040.0002	CORNELIA DE LANGE SYNDROME 2
chrX	53475117	53475118	HSD17B10	GLU	GLN	249	300256.0005	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
chrX	53475122	53475123	HSD17B10	ASN	SER	247	300256.0003	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
chrX	53475491	53475494	HSD17B10	ARG	ARG	192	300256.0004	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10
chrX	53475758	53475759	HSD17B10	ARG	CYS	130	300256.0001	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
chrX	53475782	53475783	HSD17B10	LEU	VAL	122	300256.0002	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
chrX	53579159	53579160	HUWE1	ARG	CYS	4187	300697.0003	MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
chrX	53581341	53581342	HUWE1	ARG	TRP	4013	300697.0001	MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
chrX	53595105	53595106	HUWE1	ARG	HIS	2981	300697.0002	MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
chrX	54054389	54054390	PHF8	PHE	SER	279	300560.0004	SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
chrX	54057686	54057687	PHF8	ARG	TER	211	300560.0002	SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
chrX	54059819	54059820	PHF8	LYS	TER	177	300560.0003	SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
chrX	54499390	54499391	FGD1	ARG	GLN	610	300546.0002	FACIOGENITAL DYSPLASIA
chrX	54508679	54508680	FGD1	ARG	HIS	522	300546.0003	FACIOGENITAL DYSPLASIA
chrX	54508954	54508955	FGD1	MET	VAL	466	300546.0011	FACIOGENITAL DYSPLASIA DISORDER
chrX	54511058	54511059	FGD1	ARG	GLN	408	300546.0007	FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER
chrX	54513339	54513340	FGD1	PRO	LEU	312	300546.0005	MENTAL RETARDATION, X-LINKED NONSYNDROMIC
chrX	55052399	55052400	ALAS2	SER	GLY	568	301300.0009	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	55056673	55056674	ALAS2	HIS	ASP	524	301300.0014	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	55057987	55057988	ALAS2	ARG	CYS	452	301300.0018	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	55058110	55058111	ALAS2	ARG	CYS	411	301300.0008	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	55058157	55058158	ALAS2	CYS	TYR	395	301300.0010	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	55058741	55058744	ALAS2	THR	SER	388	301300.0002	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	55060712	55060713	ALAS2	LYS	GLN	299	301300.0005	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET
chrX	55060751	55060752	ALAS2	LYS	GLN	299	301300.0005	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET
chrX	55060775	55060776	ALAS2	GLY	SER	291	301300.0004	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	55064252	55064253	ALAS2	TYR	HIS	199	301300.0017	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	55064278	55064279	ALAS2	ASP	VAL	190	301300.0007	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY
chrX	55064333	55064334	ALAS2	ALA	THR	172	301300.0006	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET
chrX	55064354	55064357	ALAS2	PHE	LEU	165	301300.0003	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	55064372	55064373	ALAS2	ASP	TYR	159	301300.0011	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	55064372	55064373	ALAS2	ASP	ASN	159	301300.0012	ANEMIA, HEREDITARY SIDEROBLASTIC
chrX	62861161	62861162	ARHGEF9	GLY	ALA	55	300429.0001	HYPEREKPLEXIA AND EPILEPSY
chrX	63328819	63328820	FAM123B	ARG	TER	358	300647.0005	OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
chrX	63328834	63328835	FAM123B	ARG	TER	353	300647.0004	OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
chrX	66681716	66681717	AR	GLU	LYS	2	313700.0038	ANDROGEN INSENSITIVITY, PARTIAL
chrX	66681890	66681891	AR	GLN	TER	60	313700.0021	ANDROGEN INSENSITIVITY, COMPLETE
chrX	66822581	66822582	AR	GLN	TER	60	313700.0021	ANDROGEN INSENSITIVITY, COMPLETE
chrX	66822581	66822582	AR	ARG	LYS	608	313700.0024	ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
chrX	66822581	66822582	AR	SER	ASN	647	313700.0033	PROSTATE CANCER
chrX	67435633	67435634	OPHN1	GLN	TER	62	300127.0003	MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
chrX	67966452	67966453	EFNB1	TRP	GLY	37	300035.0008	CRANIOFRONTONASAL SYNDROME
chrX	67966452	67966455	EFNB1	TRP	TER	37	300035.0009	CRANIOFRONTONASAL SYNDROME
chrX	67975216	67975217	EFNB1	PRO	LEU	54	300035.0003	CRANIOFRONTONASAL SYNDROME
chrX	67975251	67975252	EFNB1	ARG	TER	66	300035.0010	CRANIOFRONTONASAL SYNDROME
chrX	67975387	67975388	EFNB1	THR	ILE	111	300035.0002	CRANIOFRONTONASAL SYNDROME
chrX	67976275	67976276	EFNB1	GLY	SER	151	300035.0004	CRANIOFRONTONASAL SYNDROME
chrX	67976276	67976277	EFNB1	GLY	VAL	151	300035.0005	CRANIOFRONTONASAL SYNDROME
chrX	67976296	67976297	EFNB1	MET	VAL	158	300035.0006	CRANIOFRONTONASAL SYNDROME
chrX	67976298	67976299	EFNB1	MET	ILE	158	300035.0007	CRANIOFRONTONASAL SYNDROME
chrX	68752943	68752944	EDA	GLN	TER	23	300451.0003	ECTODERMAL DYSPLASIA, X-LINKED
chrX	68753057	68753058	EDA	TYR	HIS	61	300451.0001	ECTODERMAL DYSPLASIA, X-LINKED
chrX	68753059	68753060	EDA	TYR	TER	61	300451.0011	ECTODERMAL DYSPLASIA, X-LINKED
chrX	68753063	68753064	EDA	GLU	LYS	63	300451.0004	ECTODERMAL DYSPLASIA, X-LINKED
chrX	68753069	68753070	EDA	ARG	GLY	65	300451.0014	HYPODONTIA, X-LINKED
chrX	68753082	68753083	EDA	ARG	LEU	69	300451.0002	ECTODERMAL DYSPLASIA, X-LINKED
chrX	69093667	69093668	EDA	ARG	CYS	155	300451.0005	ECTODERMAL DYSPLASIA, X-LINKED
chrX	69093670	69093671	EDA	ARG	CYS	156	300451.0006	ECTODERMAL DYSPLASIA, X-LINKED
chrX	69093671	69093672	EDA	ARG	HIS	156	300451.0007	ECTODERMAL DYSPLASIA, X-LINKED
chrX	69164530	69164531	EDA	PRO	LEU	209	300451.0008	ECTODERMAL DYSPLASIA, X-LINKED
chrX	69164575	69164576	EDA	GLY	ALA	224	300451.0009	ECTODERMAL DYSPLASIA, X-LINKED
chrX	69172020	69172021	EDA	THR	MET	338	300451.0018	HYPODONTIA, X-LINKED
chrX	69172020	69172021	NHS	ARG	TER	378	300457.0003	NANCE-HORAN SYNDROME
chrX	69172052	69172053	EDA	ALA	THR	349	300451.0010	ECTODERMAL DYSPLASIA, X-LINKED
chrX	69172079	69172080	EDA	GLN	GLU	358	300451.0015	HYPODONTIA, X-LINKED
chrX	70245173	70245174	IL2RG	ARG	GLN	285	308380.0011	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
chrX	70245895	70245896	IL2RG	ARG	CYS	222	308380.0012	COMBINED IMMUNODEFICIENCY, X-LINKED
chrX	70246866	70246867	IL2RG	ILE	ASN	153	308380.0007	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
chrX	70247080	70247081	IL2RG	LEU	PRO	151	308380.0013	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
chrX	70247189	70247190	IL2RG	CYS	ARG	115	308380.0010	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
chrX	70247191	70247192	IL2RG	GLY	ASP	114	308380.0005	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
chrX	70247554	70247555	IL2RG	CYS	TER	62	308380.0004	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
chrX	70263941	70263942	MED12	ARG	TRP	961	300188.0001	OPITZ-KAVEGGIA SYNDROME
chrX	70264505	70264506	MED12	ASN	SER	1007	300188.0002	LUJAN-FRYNS SYNDROME
chrX	70304082	70304083	NLGN3	ARG	CYS	451	300336.0001	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1, INCLUDED
chrX	70360318	70360319	GJB1	VAL	LEU	13	304040.0009	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360370	70360371	GJB1	ILE	ASN	30	304040.0006	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360445	70360446	GJB1	THR	ILE	55	304040.0016	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360475	70360476	GJB1	TYR	CYS	65	304040.0008	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360535	70360536	GJB1	SER	CYS	85	304040.0014	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360564	70360565	GJB1	VAL	MET	95	304040.0011	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360678	70360679	GJB1	TRP	ARG	133	304040.0004	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360688	70360689	GJB1	VAL	ALA	136	304040.0021	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DEJERINE-SOTTAS NEUROPATHY, INCLUDED
chrX	70360696	70360697	GJB1	VAL	MET	139	304040.0003	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360705	70360706	GJB1	ARG	TRP	142	304040.0001	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360748	70360749	GJB1	LEU	ARG	156	304040.0007	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360795	70360796	GJB1	PRO	SER	172	304040.0002	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360895	70360896	GJB1	ASN	SER	205	304040.0012	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360939	70360940	GJB1	ARG	TER	220	304040.0005	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	70360985	70360986	GJB1	PHE	CYS	235	304040.0020	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED
chrX	71719136	71719137	PHKA1	GLU	TER	1112	311870.0001	GLYCOGEN STORAGE DISEASE, TYPE IXd
chrX	71794184	71794185	PHKA1	ASP	VAL	299	311870.0003	GLYCOGEN STORAGE DISEASE, TYPE IXd
chrX	71803999	71804000	PHKA1	GLY	ARG	223	311870.0005	GLYCOGEN STORAGE DISEASE, TYPE IXd
chrX	73657567	73657568	SLC16A2	ALA	VAL	224	300095.0003	ALLAN-HERNDON-DUDLEY SYNDROME
chrX	73662361	73662362	SLC16A2	LEU	TRP	434	300095.0008	ALLAN-HERNDON-DUDLEY SYNDROME
chrX	73662403	73662404	SLC16A2	SER	TER	448	300095.0009	ALLAN-HERNDON-DUDLEY SYNDROME
chrX	73665914	73665915	SLC16A2	LEU	PRO	512	300095.0001	ALLAN-HERNDON-DUDLEY SYNDROME
chrX	73667973	73667974	SLC16A2	LEU	PRO	568	300095.0007	ALLAN-HERNDON-DUDLEY SYNDROME
chrX	76665423	76665424	ATRX	ARG	GLY	2271	300032.0026	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
chrX	76762565	76762566	ATRX	ARG	LYS	1742	300032.0016	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
chrX	76775803	76775804	ATRX	THR	MET	1621	300032.0019	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
chrX	76824913	76824914	ATRX	LYS	ASN	792	300032.0003	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
chrX	76826177	76826178	ATRX	LEU	SER	409	300032.0023	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
chrX	76826667	76826668	ATRX	ARG	CYS	246	300032.0018	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
chrX	76827089	76827090	ATRX	CYS	TYR	220	300032.0025	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
chrX	76839732	76839733	ATRX	SER	TER	79	300032.0021	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME, SOMATIC
chrX	76859287	76859288	ATRX	ARG	TER	37	300032.0022	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
chrX	76983463	76983464	MAGT1	VAL	GLY	311	300715.0001	MENTAL RETARDATION, X-LINKED 95
chrX	77130873	77130874	ATP7A	ARG	TER	201	300011.0014	MENKES DISEASE
chrX	77153368	77153369	ATP7A	SER	LEU	637	300011.0003	OCCIPITAL HORN SYNDROME
chrX	77171423	77171424	ATP7A	ARG	TER	980	300011.0005	MENKES DISEASE
chrX	77171541	77171542	ATP7A	GLY	ASP	1019	300011.0009	MENKES DISEASE
chrX	77184847	77184848	ATP7A	ASN	SER	1304	300011.0013	OCCIPITAL HORN SYNDROME
chrX	77256042	77256043	PGK1	LEU	PRO	88	311800.0005	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MATSUE
chrX	77259537	77259538	PGK1	ASP	VAL	164	311800.0013	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMIENS
chrX	77260298	77260299	PGK1	ARG	PRO	206	311800.0002	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, UPPSALA
chrX	77260298	77260299	PGK1	VAL	MET	266	311800.0003	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, TOKYO
chrX	77265392	77265393	PGK1	ASP	ASN	268	311800.0001	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUNCHEN
chrX	77265444	77265445	PGK1	ASP	VAL	285	311800.0010	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERLEV
chrX	77267144	77267145	PGK1	THR	ASN	352	311800.0004	PHOSPHOGLYCERATE KINASE 1, PGK II
chrX	77267496	77267497	PGK1	THR	PRO	378	311800.0015	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AFULA
chrX	79164589	79164590	TBX22	GLU	TER	56	300307.0006	CLEFT PALATE WITH ANKYLOGLOSSIA
chrX	79165390	79165391	TBX22	GLY	CYS	118	300307.0003	CLEFT PALATE WITH ANKYLOGLOSSIA
chrX	79168865	79168866	TBX22	LEU	PRO	214	300307.0007	CLEFT PALATE WITH ANKYLOGLOSSIA
chrX	79169003	79169004	TBX22	THR	MET	260	300307.0002	CLEFT PALATE WITH ANKYLOGLOSSIA
chrX	79169014	79169015	TBX22	ASN	TYR	264	300307.0009	CLEFT PALATE WITH ANKYLOGLOSSIA
chrX	79819386	79819387	BRWD3	LYS	GLU	1596	300553.0003	MENTAL RETARDATION, X-LINKED 93
chrX	82650591	82650592	POU3F4	LYS	TER	202	300039.0003	DEAFNESS, X-LINKED 2, DFNX2
chrX	82650937	82650938	POU3F4	LEU	TRP	317	300039.0004	DEAFNESS, X-LINKED 2, DFNX2
chrX	82650954	82650955	POU3F4	ARG	GLY	323	300039.0009	DEAFNESS, X-LINKED 2, DFNX2
chrX	82650977	82650978	POU3F4	ARG	SER	330	300039.0008	DEAFNESS, X-LINKED 2, DFNX2
chrX	82650987	82650988	POU3F4	LYS	GLU	334	300039.0005	DEAFNESS, X-LINKED 2, DFNX2
chrX	84412776	84412777	ZNF711	ARG	TER	525	314990.0002	MENTAL RETARDATION, X-LINKED, ZNF711-RELATED
chrX	84449849	84449850	POF1B	ARG	GLN	329	300603.0001	PREMATURE OVARIAN FAILURE 2B
chrX	99548239	99548240	PCDH19	SER	TER	671	300460.0004	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION
chrX	99548929	99548930	PCDH19	VAL	GLU	441	300460.0002	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION
chrX	99549998	99549999	PCDH19	GLN	TER	85	300460.0003	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION
chrX	99550109	99550110	PCDH19	GLU	TER	48	300460.0006	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION
chrX	99803879	99803880	SRPX2	TYR	SER	72	300642.0002	ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED
chrX	99808944	99808945	SRPX2	ASN	SER	327	300642.0001	ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED
chrX	100488198	100488199	TIMM8A	ARG	TER	80	300356.0007	MOHR-TRANEBJAERG SYNDROME
chrX	100488238	100488239	TIMM8A	CYS	TRP	66	300356.0004	MOHR-TRANEBJAERG SYNDROME
chrX	100490238	100490239	TIMM8A	GLU	TER	24	300356.0003	JENSEN SYNDROME
chrX	100491553	100491554	BTK	LEU	PRO	652	300300.0051	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100494839	100494840	BTK	GLU	TER	636	300300.0049	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100494856	100494857	BTK	MET	LYS	630	300300.0048	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100494907	100494908	BTK	GLY	ASP	613	300300.0047	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100494925	100494926	BTK	ALA	ASP	607	300300.0046	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100494972	100494973	BTK	TYR	TER	591	300300.0045	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100494979	100494980	BTK	GLU	GLY	589	300300.0044	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100495578	100495579	BTK	ARG	PRO	562	300300.0053	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100495579	100495580	BTK	ARG	TRP	562	300300.0042	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100496279	100496280	BTK	LEU	PRO	542	300300.0040	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III
chrX	100496330	100496331	BTK	ARG	GLN	525	300300.0001	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100497702	100497703	BTK	ARG	GLN	520	300300.0037	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100497703	100497704	BTK	ARG	TER	520	300300.0036	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100497745	100497746	BTK	CYS	ARG	506	300300.0035	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100497755	100497756	BTK	CYS	TER	502	300300.0034	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100498488	100498489	BTK	LYS	GLU	430	300300.0002	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100498501	100498502	BTK	TYR	TER	425	300300.0033	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100498553	100498554	BTK	LEU	PRO	408	300300.0032	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100499204	100499205	BTK	TYR	TER	375	300300.0030	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III
chrX	100499973	100499974	BTK	TYR	CYS	361	300300.0003	HYPOAGAMMAGLOBULINEMIA, X-LINKED
chrX	100500054	100500055	BTK	TYR	SER	334	300300.0027	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100500315	100500316	BTK	ARG	GLY	307	300300.0026	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100500968	100500969	BTK	ARG	TRP	288	300300.0025	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100502224	100502225	BTK	ARG	TER	255	300300.0022	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100502233	100502236	BTK	TRP	TER	252	300300.0021	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100502269	100502270	BTK	GLU	TER	240	300300.0020	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100511694	100511695	BTK	VAL	ASP	113	300300.0015	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100516831	100516832	BTK	THR	PRO	33	300300.0010	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100516845	100516846	BTK	ARG	HIS	28	300300.0005	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100516885	100516886	BTK	GLN	TER	15	300300.0009	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100516891	100516892	BTK	ARG	TER	13	300300.0008	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100516926	100516927	BTK	MET	THR	1	300300.0006	AGAMMAGLOBULINEMIA, X-LINKED
chrX	100539514	100539515	GLA	THR	ALA	410	300644.0059	FABRY DISEASE
chrX	100539550	100539551	GLA	GLU	TER	398	300644.0033	FABRY DISEASE
chrX	100539647	100539648	GLA	TYR	TER	365	300644.0055	FABRY DISEASE
chrX	100539661	100539662	GLA	GLY	ARG	361	300644.0032	FABRY DISEASE
chrX	100539676	100539677	GLA	ARG	TRP	356	300644.0001	FABRY DISEASE
chrX	100539717	100539718	GLA	ARG	GLN	342	300644.0030	FABRY DISEASE
chrX	100539718	100539719	GLA	ARG	TER	342	300644.0031	FABRY DISEASE
chrX	100539724	100539727	GLA	TRP	TER	340	300644.0029	FABRY DISEASE
chrX	100540029	100540030	GLA	GLY	ALA	328	300644.0028	FABRY DISEASE
chrX	100540030	100540031	GLA	GLY	ARG	328	300644.0010	FABRY DISEASE
chrX	100540033	100540034	GLA	GLN	LYS	327	300644.0027	FABRY DISEASE
chrX	100540075	100540076	GLA	ASP	TYR	313	300644.0026	FABRY DISEASE
chrX	100540110	100540111	GLA	ARG	GLN	301	300644.0003	FABRY DISEASE, CARDIAC VARIANT FABRY DISEASE, INCLUDED
chrX	100540122	100540123	GLA	SER	PHE	297	300644.0025	FABRY DISEASE
chrX	100540124	100540125	GLA	MET	ILE	296	300644.0051	FABRY DISEASE, CARDIAC VARIANT
chrX	100540126	100540127	GLA	MET	VAL	296	300644.0005	FABRY DISEASE, CARDIAC VARIANT
chrX	100540153	100540156	GLA	TRP	TER	287	300644.0024	FABRY DISEASE
chrX	100540177	100540178	GLA	GLN	GLU	279	300644.0008	FABRY DISEASE, CARDIAC VARIANT
chrX	100540197	100540198	GLA	ASN	SER	272	300644.0062	FABRY DISEASE
chrX	100540206	100540207	GLA	VAL	ALA	269	300644.0023	FABRY DISEASE
chrX	100540432	100540433	GLA	ASP	VAL	266	300644.0022	FABRY DISEASE
chrX	100540438	100540439	GLA	ASP	VAL	264	300644.0021	FABRY DISEASE
chrX	100540549	100540550	GLA	ARG	GLN	227	300644.0019	FABRY DISEASE
chrX	100540550	100540551	GLA	ARG	TER	227	300644.0020	FABRY DISEASE
chrX	100540563	100540564	GLA	TYR	TER	222	300644.0058	FABRY DISEASE
chrX	100540585	100540586	GLA	ASN	SER	215	300644.0018	FABRY DISEASE
chrX	100542342	100542343	GLA	CYS	TRP	202	300644.0017	FABRY DISEASE
chrX	100543338	100543339	GLA	TRP	ARG	162	300644.0016	FABRY DISEASE
chrX	100543356	100543357	GLA	ALA	THR	156	300644.0015	FABRY DISEASE
chrX	100543386	100543387	GLA	PRO	SER	146	300644.0014	FABRY DISEASE
chrX	100543395	100543396	GLA	ALA	THR	143	300644.0036	FABRY DISEASE
chrX	100543395	100543396	GLA	ALA	PRO	143	300644.0057	FABRY DISEASE
chrX	100545489	100545490	GLA	ARG	CYS	112	300644.0011	FABRY DISEASE
chrX	100545627	100545628	GLA	GLU	GLN	66	300644.0011	FABRY DISEASE
chrX	100549353	100549354	GLA	SER	THR	65	300644.0054	FABRY DISEASE
chrX	100549381	100549382	GLA	CYS	GLY	56	300644.0013	FABRY DISEASE
chrX	100549417	100549420	GLA	TRP	TER	44	300644.0004	FABRY DISEASE
chrX	100549429	100549430	GLA	PRO	SER	40	300644.0009	FABRY DISEASE
chrX	100549446	100549447	GLA	ASN	SER	34	300644.0012	FABRY DISEASE
chrX	100549489	100549490	GLA	ALA	PRO	20	300644.0052	FABRY DISEASE, CARDIAC VARIANT
chrX	102918581	102918582	PLP1	MET	ILE	1	300401.0015	PELIZAEUS-MERZBACHER DISEASE, MILD
chrX	102927330	102927331	PLP1	ASP	TYR	57	300401.0027	PELIZAEUS-MERZBACHER DISEASE
chrX	102928266	102928267	PLP1	ARG	TRP	137	300401.0026	SPASTIC PARAPLEGIA 2
chrX	102930945	102930946	PLP1	ALA	VAL	242	300401.0019	PELIZAEUS-MERZBACHER DISEASE, CONNATAL
chrX	106769186	106769187	PRPS1	GLU	ASP	43	311850.0009	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
chrX	106769250	106769251	PRPS1	ASP	ASN	65	311850.0013	DEAFNESS, X-LINKED 1
chrX	106769316	106769317	PRPS1	ALA	THR	87	311850.0014	DEAFNESS, X-LINKED 1
chrX	106770824	106770825	PRPS1	MET	THR	115	311850.0010	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
chrX	106770878	106770879	PRPS1	GLN	PRO	133	311850.0012	ARTS SYNDROME
chrX	106772300	106772301	PRPS1	LEU	PRO	152	311850.0011	ARTS SYNDROME
chrX	106779829	106779830	PRPS1	ILE	THR	290	311850.0016	DEAFNESS, X-LINKED 1
chrX	106779876	106779877	PRPS1	GLY	ARG	306	311850.0015	DEAFNESS, X-LINKED 1
chrX	107688968	107688969	COL4A5	GLY	ASP	54	303630.0013	ALPORT SYNDROME, X-LINKED
chrX	107710598	107710599	COL4A5	GLY	VAL	289	303630.0012	ALPORT SYNDROME, X-LINKED
chrX	107712805	107712806	COL4A5	GLY	ARG	325	303630.0007	ALPORT SYNDROME, X-LINKED
chrX	107712806	107712807	COL4A5	GLY	GLU	325	303630.0011	ALPORT SYNDROME, X-LINKED
chrX	107726927	107726928	COL4A5	GLY	CYS	521	303630.0010	ALPORT SYNDROME, X-LINKED
chrX	107795446	107795447	COL4A5	GLY	ASP	1143	303630.0006	ALPORT SYNDROME WITHOUT HEARING LOSS OR OCULAR LESIONS, X-LINKED
chrX	107825294	107825295	COL4A5	LEU	ARG	1649	303630.0014	ALPORT SYNDROME, X-LINKED
chrX	107826226	107826227	COL4A5	ARG	GLN	1677	303630.0015	ALPORT SYNDROME, X-LINKED
chrX	107826235	107826236	COL4A5	ARG	GLN	1677	303630.0015	ALPORT SYNDROME, X-LINKED
chrX	108791527	108791528	ACSL4	ARG	SER	529	300157.0001	MENTAL RETARDATION, X-LINKED 63
chrX	108804287	108804288	ACSL4	PRO	LEU	375	300157.0003	MENTAL RETARDATION, X-LINKED 68
chrX	110272002	110272003	PAK3	ARG	CYS	67	300142.0002	MENTAL RETARDATION, X-LINKED 30
chrX	110324285	110324286	PAK3	ALA	GLU	365	300142.0003	MENTAL RETARDATION, X-LINKED 30
chrX	110326371	110326372	PAK3	ARG	TER	419	300142.0001	MENTAL RETARDATION, X-LINKED 30
chrX	110326453	110326454	PAK3	TRP	SER	446	300142.0004	MENTAL RETARDATION, X-LINKED 30
chrX	110530970	110530971	DCX	THR	ARG	203	300121.0006	LISSENCEPHALY, X-LINKED, 1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
chrX	110530991	110530992	DCX	ARG	HIS	196	300121.0013	LISSENCEPHALY, X-LINKED, 1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
chrX	110531004	110531005	DCX	ARG	TRP	192	300121.0002	LISSENCEPHALY, X-LINKED, 1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
chrX	110531205	110531206	DCX	TYR	HIS	125	300121.0003	LISSENCEPHALY, X-LINKED, 1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
chrX	110539951	110539952	DCX	ARG	TRP	192	300121.0002	LISSENCEPHALY, X-LINKED, 1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
chrX	110540017	110540018	DCX	ARG	GLY	89	300121.0012	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED
chrX	110540049	110540050	DCX	ARG	HIS	78	300121.0011	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED
chrX	110540071	110540072	DCX	ALA	SER	71	300121.0014	LISSENCEPHALY, X-LINKED, 1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
chrX	110540098	110540099	DCX	ASP	ASN	62	300121.0001	LISSENCEPHALY, X-LINKED, 1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
chrX	110540106	110540107	DCX	ARG	LEU	59	300121.0005	LISSENCEPHALY, X-LINKED, 1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
chrX	110540143	110540146	DCX	SER	ARG	47	300121.0007	LISSENCEPHALY, X-LINKED, 1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
chrX	110540719	110540722	DCX	SER	ARG	47	300121.0007	LISSENCEPHALY, X-LINKED, 1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
chrX	113871989	113871992	HTR2C	CYS	SER	23	312861.0001	SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM
chrX	115217622	115217623	AGTR2	GLY	VAL	21	300034.0001	MENTAL RETARDATION, X-LINKED 88
chrX	115217717	115217718	AGTR2	ILE	PHE	53	300034.0006	MENTAL RETARDATION, X-LINKED 88
chrX	115218531	115218532	AGTR2	ARG	GLN	324	300034.0003	MENTAL RETARDATION, X-LINKED 88
chrX	115218569	115218570	AGTR2	ILE	VAL	337	300034.0004	MENTAL RETARDATION, X-LINKED 88
chrX	118601168	118601169	UBE2A	GLN	TER	128	312180.0001	MENTAL RETARDATION, X-LINKED, SYNDROMIC, UBE2A-RELATED
chrX	118855761	118855762	UPF3B	ARG	TER	430	300298.0003	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
chrX	118861283	118861284	UPF3B	TYR	ASP	160	300298.0004	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
chrX	118889923	118889924	NDUFA1	GLY	ARG	8	300078.0001	MITOCHONDRIAL COMPLEX I DEFICIENCY
chrX	118891302	118891303	NDUFA1	ARG	SER	37	300078.0002	MITOCHONDRIAL COMPLEX I DEFICIENCY
chrX	119459744	119459745	LAMP2	TRP	ARG	321	309060.0011	DANON DISEASE
chrX	119460481	119460482	LAMP2	VAL	ILE	310	309060.0010	DANON DISEASE
chrX	119466888	119466889	LAMP2	GLN	TER	174	309060.0009	DANON DISEASE
chrX	119557231	119557232	CUL4B	ARG	CYS	572	300304.0001	CABEZAS SYNDROME
chrX	119562061	119562062	CUL4B	ARG	TER	388	300304.0002	CABEZAS SYNDROME
chrX	119562061	119562062	CUL4B	ARG	TER	388	300304.0004	MENTAL RETARDATION, X-LINKED, SYNDROMIC 15
chrX	119644595	119644596	C1GALT1C1	GLU	LYS	152	300611.0003	Tn SYNDROME
chrX	119644656	119644657	C1GALT1C1	ASP	GLU	131	300611.0002	Tn SYNDROME
chrX	119644847	119644848	C1GALT1C1	ARG	TER	68	300611.0001	Tn SYNDROME
chrX	122389485	122389486	GRIA3	ARG	SER	631	305915.0002	MENTAL RETARDATION, X-LINKED 94
chrX	122426436	122426437	GRIA3	MET	THR	706	305915.0003	MENTAL RETARDATION, X-LINKED 94
chrX	122444387	122444388	GRIA3	GLY	ARG	833	305915.0001	MENTAL RETARDATION, X-LINKED 94
chrX	123308175	123308176	SH2D1A	MET	ILE	1	300490.0011	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
chrX	123308267	123308268	SH2D1A	ARG	THR	32	300490.0004	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
chrX	123327316	123327317	SH2D1A	ARG	TER	55	300490.0001	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
chrX	123327317	123327318	SH2D1A	ARG	LEU	55	300490.0013	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
chrX	123327325	123327326	SH2D1A	GLN	TER	58	300490.0002	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
chrX	123331707	123331708	SH2D1A	THR	ILE	68	300490.0008	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
chrX	123331806	123331807	SH2D1A	PRO	LEU	101	300490.0007	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
chrX	123332919	123332920	SH2D1A	TER	ARG	129	300490.0006	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
chrX	128785374	128785375	ZDHHC9	PRO	SER	150	300646.0004	MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED
chrX	128785380	128785381	ZDHHC9	ARG	TRP	148	300646.0003	MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED
chrX	131041761	131041762	FRMD7	ARG	TER	335	300628.0002	NYSTAGMUS 1, CONGENITAL, X-LINKED
chrX	131046254	131046255	FRMD7	ARG	GLY	229	300628.0008	NYSTAGMUS 1, CONGENITAL, X-LINKED
chrX	131047333	131047334	FRMD7	GLN	TER	201	300628.0001	NYSTAGMUS 1, CONGENITAL, X-LINKED
chrX	131047700	131047701	FRMD7	LEU	ARG	142	300628.0007	NYSTAGMUS 1, CONGENITAL, X-LINKED
chrX	131059006	131059007	FRMD7	VAL	VAL	84	300628.0004	NYSTAGMUS 1, CONGENITAL, X-LINKED
chrX	131062412	131062413	FRMD7	GLY	ARG	24	300628.0005	NYSTAGMUS 1, CONGENITAL, X-LINKED
chrX	132497894	132497895	GPC3	GLY	ARG	556	300037.0011	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
chrX	132497894	132497895	POU3F4	LEU	TER	298	300039.0001	DEAFNESS, X-LINKED 2, DFNX2
chrX	132661595	132661596	GPC3	ARG	TER	387	300037.0010	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
chrX	132715320	132715321	GPC3	TRP	ARG	296	300037.0003	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
chrX	132715611	132715612	GPC3	ARG	TER	199	300037.0005	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
chrX	133339334	133339335	PHF6	LYS	TER	8	300414.0008	BORJESON-FORSSMAN-LEHMANN SYNDROME
chrX	133339446	133339447	PHF6	CYS	TYR	45	300414.0004	BORJESON-FORSSMAN-LEHMANN SYNDROME
chrX	133355251	133355252	PHF6	CYS	PHE	99	300414.0002	BORJESON-FORSSMAN-LEHMANN SYNDROME
chrX	133375618	133375619	PHF6	HIS	ARG	229	300414.0005	BORJESON-FORSSMAN-LEHMANN SYNDROME
chrX	133375618	133375619	PHF6	MET	TYR	1	300414.0006	BORJESON-FORSSMAN-LEHMANN SYNDROME
chrX	133375632	133375633	PHF6	LYS	GLU	234	300414.0003	BORJESON-FORSSMAN-LEHMANN SYNDROME
chrX	133376750	133376751	PHF6	ARG	GLY	257	300414.0007	BORJESON-FORSSMAN-LEHMANN SYNDROME
chrX	133386951	133386952	PHF6	ARG	TER	342	300414.0001	BORJESON-FORSSMAN-LEHMANN SYNDROME
chrX	134934189	134934190	SLC9A6	ARG	TER	468	300231.0002	MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
chrX	135116993	135116994	FHL1	CYS	ARG	104	300163.0009	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
chrX	135117649	135117650	FHL1	TRP	SER	122	300163.0001	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
chrX	135117651	135117652	FHL1	HIS	TYR	123	300163.0004	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
chrX	135117652	135117653	FHL1	HIS	LEU	123	300163.0015	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
chrX	135117653	135117654	FHL1	HIS	GLN	123	300163.0016	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
chrX	135117679	135117680	FHL1	CYS	PHE	132	300163.0005	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
chrX	135117733	135117734	FHL1	CYS	TYR	150	300163.0008	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
chrX	135117741	135117742	FHL1	CYS	ARG	153	300163.0006	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
chrX	135117742	135117743	FHL1	CYS	TYR	153	300163.0007	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
chrX	135118402	135118403	FHL1	CYS	ARG	209	300163.0011	EMERY-DREIFUSS MUSCULAR DYSTROPHY 6
chrX	135118449	135118450	FHL1	CYS	TRP	224	300163.0002	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
chrX	135119216	135119217	FHL1	VAL	MET	280	300163.0013	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
chrX	135119847	135119848	FHL1	TER	GLU	281	300163.0010	EMERY-DREIFUSS MUSCULAR DYSTROPHY 6
chrX	135558179	135558180	CD40LG	MET	ARG	36	300386.0006	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
chrX	135566201	135566202	CD40LG	ALA	GLU	123	300386.0012	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
chrX	135566215	135566218	CD40LG	SER	ARG	128	300386.0002	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
chrX	135566219	135566220	CD40LG	GLU	GLY	129	300386.0002	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
chrX	135568871	135568874	CD40LG	TRP	TER	140	300386.0007	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
chrX	135568871	135568872	CD40LG	TRP	GLY	140	300386.0008	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
chrX	135568917	135568918	CD40LG	LEU	PRO	155	300386.0004	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
chrX	135568917	135568918	CD40LG	THR	ASP	211	300386.0005	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
chrX	135569133	135569134	CD40LG	GLY	VAL	227	300386.0003	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
chrX	135569156	135569157	CD40LG	ALA	PRO	235	300386.0001	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
chrX	136477164	136477165	ZIC3	PRO	ALA	217	300265.0007	CONGENITAL HEART DEFECTS, X-LINKED
chrX	136477260	136477261	ZIC3	GLN	TER	249	300265.0004	HETEROTAXY, VISCERAL, 1, X-LINKED
chrX	136477272	136477275	ZIC3	CYS	SER	253	300265.0005	HETEROTAXY, VISCERAL, 1, X-LINKED
chrX	136477278	136477279	ZIC3	TRP	GLY	255	300265.0009	HETEROTAXY, VISCERAL, 1, X-LINKED
chrX	136478878	136478879	ZIC3	LYS	GLU	405	300265.0006	HETEROTAXY, VISCERAL, 1, X-LINKED
chrX	138440640	138440641	F9	CYS	ARG	18	300746.0012	HEMOPHILIA B
chrX	138440667	138440668	F9	GLU	LYS	27	300746.0013	HEMOPHILIA B FACTOR IX SEATTLE 3
chrX	138440668	138440669	F9	GLU	VAL	27	300746.0014	HEMOPHILIA B
chrX	138440668	138440669	F9	ARG	TRP	180	300746.0030	HEMOPHILIA B
chrX	138440668	138440669	F9	ARG	GLN	180	300746.0031	HEMOPHILIA B(M)
chrX	138460906	138460907	F9	VAL	PHE	181	300746.0032	HEMOPHILIA B
chrX	138461046	138461047	F9	VAL	VAL	227	300746.0041	FACTOR IX, DNA POLYMORPHISM
chrX	138461062	138461063	F9	ALA	THR	233	300746.0042	HEMOPHILIA B
chrX	138471540	138471541	F9	ILE	THR	344	300746.0108	HEMOPHILIA B
chrX	138471597	138471598	F9	GLY	VAL	363	300746.0062	HEMOPHILIA B
chrX	138471597	138471598	F9	SER	ILE	365	300746.0093	HEMOPHILIA B
chrX	138471597	138471598	F9	SER	GLY	365	300746.0094	HEMOPHILIA B
chrX	146825744	146825745	FMR1	ILE	ASN	304	309550.0001	FRAGILE X MENTAL RETARDATION SYNDROME
chrX	148372329	148372330	IDS	TRP	SER	502	309900.0003	MUCOPOLYSACCHARIDOSIS TYPE II
chrX	148372368	148372369	IDS	GLY	ALA	489	309900.0017	MUCOPOLYSACCHARIDOSIS TYPE II
chrX	148372370	148372371	IDS	MET	ILE	488	309900.0017	MUCOPOLYSACCHARIDOSIS TYPE II
chrX	148372411	148372414	IDS	TRP	TER	475	309900.0010	MUCOPOLYSACCHARIDOSIS TYPE II
chrX	148372431	148372432	IDS	ARG	GLN	468	309900.0013	MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM
chrX	148372431	148372432	IDS	ARG	LEU	468	309900.0015	MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM
chrX	148372432	148372433	IDS	ARG	TRP	468	309900.0012	MUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM
chrX	148372507	148372508	IDS	ARG	TER	443	309900.0001	MUCOPOLYSACCHARIDOSIS TYPE II, INTERMEDIATE FORM
chrX	148372570	148372571	IDS	CYS	GLY	422	309900.0008	MUCOPOLYSACCHARIDOSIS TYPE II
chrX	148379757	148379758	IDS	SER	LEU	333	309900.0002	MUCOPOLYSACCHARIDOSIS TYPE II
chrX	148387736	148387737	IDS	ARG	TER	172	309900.0005	MUCOPOLYSACCHARIDOSIS TYPE II
chrX	148390412	148390413	IDS	PRO	ARG	160	309900.0004	MUCOPOLYSACCHARIDOSIS TYPE II
chrX	148392760	148392761	IDS	LYS	ARG	135	309900.0009	MUCOPOLYSACCHARIDOSIS TYPE II
chrX	149517781	149517782	MTM1	ARG	CYS	69	300415.0003	MYOTUBULAR MYOPATHY, X-LINKED
chrX	149558097	149558098	MTM1	GLU	LYS	157	300415.0010	MYOTUBULAR MYOPATHY, X-LINKED
chrX	149560540	149560541	MTM1	ARG	TER	224	300415.0008	MYOTUBULAR MYOPATHY, X-LINKED
chrX	149564855	149564856	MTM1	ARG	CYS	241	300415.0007	MYOTUBULAR MYOPATHY, X-LINKED
chrX	151769617	151769618	NSDHL	ARG	TER	88	300275.0004	CHILD SYNDROME
chrX	151778015	151778016	NSDHL	ALA	VAL	105	300275.0001	CHILD SYNDROME
chrX	151781831	151781832	NSDHL	GLU	TER	151	300275.0006	CHILD SYNDROME
chrX	151785018	151785019	NSDHL	ALA	PRO	182	300275.0005	CHILD SYNDROME
chrX	151785087	151785088	NSDHL	GLY	SER	205	300275.0002	CHILD SYNDROME
chrX	151785102	151785103	NSDHL	GLN	TER	210	300275.0003	CHILD SYNDROME
chrX	152607481	152607482	SLC6A8	GLY	ARG	87	300036.0005	CREATINE DEFICIENCY SYNDROME, X-LINKED
chrX	152609155	152609156	SLC6A8	GLY	VAL	132	300036.0008	CREATINE DEFICIENCY SYNDROME, X-LINKED
chrX	152612009	152612010	SLC6A8	CYS	TRP	337	300036.0007	CREATINE DEFICIENCY SYNDROME, X-LINKED
chrX	152612234	152612235	SLC6A8	GLY	ARG	381	300036.0002	CREATINE DEFICIENCY SYNDROME, X-LINKED
chrX	152613072	152613073	SLC6A8	CYS	TRP	491	300036.0009	CREATINE DEFICIENCY SYNDROME, X-LINKED
chrX	152613225	152613226	SLC6A8	ARG	TER	514	300036.0001	CREATINE DEFICIENCY SYNDROME, X-LINKED
chrX	152644357	152644358	ABCD1	ASN	SER	148	300371.0006	ADRENOLEUKODYSTROPHY
chrX	152644434	152644435	ABCD1	TYR	ASP	174	300371.0007	ADRENOLEUKODYSTROPHY
chrX	152644710	152644711	ABCD1	GLY	ARG	266	300371.0008	ADRENOLEUKODYSTROPHY
chrX	152644785	152644786	ABCD1	GLU	LYS	291	300371.0001	ADRENOLEUKODYSTROPHY
chrX	152654842	152654843	ABCD1	ARG	GLY	389	300371.0005	ADRENOMYELONEUROPATHY
chrX	152654879	152654880	ABCD1	ARG	GLN	401	300371.0009	ADRENOLEUKODYSTROPHY
chrX	152655019	152655020	ABCD1	ARG	TRP	418	300371.0010	ADRENOLEUKODYSTROPHY
chrX	152655157	152655158	ABCD1	ARG	TER	464	300371.0011	ADRENOMYELONEUROPATHY
chrX	152655839	152655840	ABCD1	GLU	TER	477	300371.0013	ADRENOLEUKODYSTROPHY
chrX	152655861	152655862	ABCD1	PRO	ARG	484	300371.0002	ADRENOLEUKODYSTROPHY
chrX	152658794	152658795	ABCD1	SER	PHE	515	300371.0014	ADRENOLEUKODYSTROPHY
chrX	152658802	152658803	ABCD1	ARG	TRP	518	300371.0016	ADRENOMYELONEUROPATHY
chrX	152661670	152661671	ABCD1	SER	LEU	606	300371.0019	ADDISON DISEASE
chrX	152661702	152661703	ABCD1	ARG	CYS	617	300371.0022	ADRENOLEUKODYSTROPHY
chrX	152661703	152661704	ABCD1	ARG	HIS	617	300371.0021	ADRENOMYELONEUROPATHY
chrX	152781504	152781505	L1CAM	SER	LEU	1194	308840.0009	HYDROCEPHALUS, X-LINKED MASA SYNDROME, INCLUDED
chrX	152785474	152785475	L1CAM	VAL	MET	752	308840.0014	HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
chrX	152786682	152786683	L1CAM	ASP	ASN	598	308840.0005	MASA SYNDROME
chrX	152787514	152787515	L1CAM	GLY	ARG	452	308840.0006	HYDROCEPHALUS, X-LINKED
chrX	152788466	152788467	L1CAM	GLY	ARG	370	308840.0011	CRASH SYNDROME
chrX	152789051	152789052	L1CAM	CYS	TYR	264	308840.0002	HYDROCEPHALUS, X-LINKED
chrX	152789108	152789109	L1CAM	PRO	LEU	240	308840.0017	HYDROCEPHALUS, X-LINKED CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED, INCLUDED
chrX	152789123	152789124	L1CAM	PRO	LEU	240	308840.0017	HYDROCEPHALUS, X-LINKED CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED, INCLUDED
chrX	152789502	152789503	L1CAM	HIS	GLN	210	308840.0004	MASA SYNDROME
chrX	152789581	152789582	L1CAM	ARG	GLN	184	308840.0007	HYDROCEPHALUS, X-LINKED
chrX	152789596	152789597	L1CAM	ILE	SER	179	308840.0010	CRASH SYNDROME
chrX	152824290	152824291	AVPR2	ILE	LYS	46	300538.0018	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824364	152824367	AVPR2	TRP	TER	71	300538.0008	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824406	152824407	AVPR2	ASP	ASN	85	300538.0011	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824463	152824464	AVPR2	ARG	CYS	104	300538.0020	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824466	152824467	AVPR2	PHE	VAL	105	300538.0017	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824490	152824491	AVPR2	ARG	TRP	113	300538.0006	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824548	152824549	AVPR2	ALA	ASP	132	300538.0002	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824562	152824563	AVPR2	ARG	CYS	137	300538.0021	NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
chrX	152824563	152824564	AVPR2	ARG	HIS	137	300538.0015	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824563	152824564	AVPR2	ARG	LEU	137	300538.0022	NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
chrX	152824694	152824695	AVPR2	ARG	CYS	181	300538.0016	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824706	152824707	AVPR2	GLY	CYS	185	300538.0003	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824755	152824756	AVPR2	GLY	ASP	201	300538.0012	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824760	152824761	AVPR2	ARG	CYS	203	300538.0005	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824767	152824768	AVPR2	TYR	CYS	205	300538.0004	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152824992	152824993	AVPR2	TYR	CYS	280	300538.0009	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152825268	152825269	AVPR2	ARG	TER	337	300538.0010	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
chrX	152949109	152949110	MECP2	GLU	TER	455	300005.0026	RETT SYNDROME
chrX	152949190	152949191	MECP2	GLY	SER	428	300005.0023	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION
chrX	152949292	152949293	MECP2	GLU	TER	406	300005.0009	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
chrX	152949508	152949509	MECP2	PRO	SER	322	300005.0035	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
chrX	152949556	152949557	MECP2	ARG	CYS	306	300005.0016	RETT SYNDROME
chrX	152949592	152949593	MECP2	ARG	TER	294	300005.0011	RETT SYNDROME AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3, INCLUDED
chrX	152949664	152949665	MECP2	ARG	TER	270	300005.0005	RETT SYNDROME
chrX	152949709	152949710	MECP2	ARG	TER	255	300005.0021	RETT SYNDROME
chrX	152949798	152949799	MECP2	PRO	LEU	225	300005.0033	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
chrX	152949970	152949971	MECP2	ARG	TER	168	300005.0020	RETT SYNDROME
chrX	152949999	152950000	MECP2	THR	MET	158	300005.0007	RETT SYNDROME ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION, INCLUDED
chrX	152950008	152950009	MECP2	PHE	SER	155	300005.0002	RETT SYNDROME
chrX	152950018	152950019	MECP2	PRO	ALA	152	300005.0036	RETT SYNDROME, ZAPPELLA VARIANT
chrX	152950049	152950050	MECP2	TYR	TER	141	300005.0025	RETT SYNDROME, ATYPICAL
chrX	152950053	152950054	MECP2	ALA	VAL	140	300005.0015	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
chrX	152950062	152950063	MECP2	GLU	GLY	137	300005.0017	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
chrX	152950075	152950076	MECP2	ARG	CYS	133	300005.0001	RETT SYNDROME, ZAPPELLA VARIANT RETT SYNDROME, INCLUDED
chrX	152950912	152950913	MECP2	ARG	TRP	106	300005.0008	RETT SYNDROME
chrX	152950930	152950931	MECP2	LEU	VAL	100	300005.0027	RETT SYNDROME
chrX	153016311	153016312	MECP2	ALA	VAL	2	300005.0037	RETT SYNDROME
chrX	153236421	153236422	FLNA	GLY	CYS	1728	300017.0022	OTOPALATODIGITAL SPECTRUM DISORDER
chrX	153241400	153241401	FLNA	PRO	LEU	1291	300017.0028	FG SYNDROME 2
chrX	153241760	153241761	FLNA	SER	LEU	1199	300017.0013	MELNICK-NEEDLES SYNDROME
chrX	153241794	153241795	FLNA	ALA	THR	1188	300017.0012	MELNICK-NEEDLES SYNDROME
chrX	153241799	153241800	FLNA	SER	LEU	1186	300017.0015	FRONTOMETAPHYSEAL DYSPLASIA
chrX	153241799	153241800	FLNA	SER	LEU	1186	300017.0023	FRONTOMETAPHYSEAL DYSPLASIA
chrX	153241880	153241881	FLNA	ASP	ALA	1159	300017.0011	FRONTOMETAPHYSEAL DYSPLASIA
chrX	153246143	153246144	FLNA	LEU	PHE	656	300017.0006	HETEROTOPIA, PERIVENTRICULAR
chrX	153249066	153249067	FLNA	GLU	LYS	254	300017.0010	OTOPALATODIGITAL SYNDROME, TYPE II
chrX	153249293	153249294	FLNA	CYS	PHE	210	300017.0027	OTOPALATODIGITAL SYNDROME, TYPE II
chrX	153249405	153249406	FLNA	PRO	LEU	207	300017.0009	OTOPALATODIGITAL SYNDROME, TYPE I
chrX	153249418	153249419	FLNA	ASP	TYR	203	300017.0020	OTOPALATODIGITAL SYNDROME, TYPE I
chrX	153249439	153249440	FLNA	ARG	TRP	196	300017.0026	OTOPALATODIGITAL SYNDROME, TYPE I OTOPALATODIGITAL SYNDROME, TYPE II, INCLUDED
chrX	153249481	153249482	FLNA	GLN	TER	182	300017.0001	HETEROTOPIA, PERIVENTRICULAR
chrX	153249642	153249643	FLNA	ALA	VAL	128	300017.0021	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
chrX	153252562	153252563	FLNA	GLU	VAL	82	300017.0008	HETEROTOPIA, PERIVENTRICULAR
chrX	153252691	153252692	FLNA	ALA	GLY	39	300017.0019	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
chrX	153262532	153262533	EMD	PRO	THR	183	300384.0009	EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED
chrX	153262533	153262534	EMD	PRO	HIS	183	300384.0008	EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED
chrX	153293659	153293660	TAZ	TYR	TER	51	300394.0002	BARTH SYNDROME
chrX	153294778	153294779	TAZ	ARG	SER	94	300394.0011	BARTH SYNDROME
chrX	153295079	153295080	TAZ	CYS	ARG	118	300394.0009	BARTH SYNDROME
chrX	153301569	153301570	TAZ	GLY	ARG	197	300394.0006	NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED
chrX	153320358	153320359	GDI1	ARG	TER	70	300104.0002	MENTAL RETARDATION, X-LINKED 48
chrX	153320566	153320567	GDI1	LEU	PRO	92	300104.0001	MENTAL RETARDATION, X-LINKED 41
chrX	153324136	153324137	GDI1	ARG	PRO	423	300104.0003	MENTAL RETARDATION, X-LINKED 48
chrX	153413611	153413612	G6PD	PRO	ARG	481	305900.0060	G6PD SPLIT
chrX	153413653	153413654	G6PD	PRO	ARG	467	305900.0050	G6PD NEAPOLIS
chrX	153413665	153413666	G6PD	ARG	HIS	463	305900.0029	 G6PD DHON
chrX	153413665	153413666	G6PD	ARG	HIS	463	305900.0029	G6PD KAIPING G6PD ANANT
chrX	153413665	153413666	G6PD	ARG	HIS	463	305900.0029	 G6PD PETRICH-LIKE
chrX	153413665	153413666	G6PD	ARG	HIS	463	305900.0029	 G6PD SAPPORO-LIKE
chrX	153413677	153413678	G6PD	ARG	LEU	459	305900.0021	 G6PD AGRIGENTO
chrX	153413677	153413678	G6PD	ARG	LEU	459	305900.0021	G6PD CANTON G6PD GIFU
chrX	153413677	153413678	G6PD	ARG	LEU	459	305900.0021	 G6PD TAIWAN-HAKKA
chrX	153413677	153413678	G6PD	ARG	PRO	459	305900.0059	G6PD COSENZA
chrX	153413797	153413798	G6PD	ARG	HIS	454	305900.0020	G6PD ANDALUS
chrX	153413819	153413820	G6PD	GLY	ARG	447	305900.0009	G6PD SANTIAGO DE CUBA
chrX	153413842	153413843	G6PD	ARG	PRO	439	305900.0040	G6PD PAWNEE ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
chrX	153414033	153414034	G6PD	GLY	ASP	410	305900.0039	G6PD JAPAN ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
chrX	153414034	153414035	G6PD	GLY	CYS	410	305900.0015	G6PD RIVERSIDE
chrX	153414070	153414071	G6PD	GLU	LYS	398	305900.0022	G6PD PUERTO LIMON
chrX	153414082	153414083	G6PD	VAL	LEU	394	305900.0038	G6PD ALHAMBRA ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
chrX	153414084	153414085	G6PD	ARG	HIS	393	305900.0008	G6PD PORTICI
chrX	153414084	153414085	G6PD	ARG	HIS	393	305900.0025	G6PD NASHVILLE G6PD ANAHEIM
chrX	153414102	153414103	G6PD	ARG	HIS	387	305900.0013	G6PD BEVERLY HILLS
chrX	153414103	153414104	G6PD	ARG	CYS	387	305900.0037	G6PD GUADALAJARA ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
chrX	153414106	153414107	G6PD	LYS	GLU	386	305900.0012	G6PD IOWA G6PD IOWA CITY
chrX	153414106	153414107	G6PD	LYS	GLU	386	305900.0012	 G6PD SPRINGFIELD
chrX	153414106	153414107	G6PD	LYS	GLU	386	305900.0012	 G6PD WALTER REED
chrX	153414109	153414110	G6PD	CYS	ARG	385	305900.0014	G6PD TOMAH
chrX	153414160	153414161	G6PD	GLU	LYS	398	305900.0022	G6PD PUERTO LIMON
chrX	153414173	153414174	G6PD	ASN	LYS	363	305900.0030	G6PD LOMA LINDA
chrX	153414180	153414181	G6PD	ALA	VAL	361	305900.0051	G6PD SERRES
chrX	153414192	153414193	G6PD	ARG	HIS	387	305900.0013	G6PD BEVERLY HILLS
chrX	153414193	153414194	G6PD	ARG	CYS	387	305900.0037	G6PD GUADALAJARA ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
chrX	153414205	153414206	G6PD	PRO	SER	353	305900.0036	G6PD IERAPETRA
chrX	153414377	153414378	G6PD	LEU	PHE	342	305900.0046	G6PD MAHIDOL-LIKE
chrX	153414398	153414399	G6PD	ALA	THR	335	305900.0003	G6PD CHATHAM
chrX	153414433	153414434	G6PD	LEU	PRO	323	305900.0028	G6PD A-
chrX	153414437	153414438	G6PD	TYR	HIS	322	305900.0055	G6PD REHOVOT
chrX	153414452	153414453	G6PD	GLU	LYS	317	305900.0042	 G6PD KALYAN
chrX	153414452	153414453	G6PD	GLU	LYS	317	305900.0042	G6PD KERALA-KALYAN G6PD KERALA
chrX	153414530	153414531	G6PD	VAL	MET	291	305900.0026	G6PD VIANGCHAN G6PD JAMMU
chrX	153414989	153414990	G6PD	GLU	LYS	317	305900.0042	 G6PD KALYAN
chrX	153414989	153414990	G6PD	GLU	LYS	317	305900.0042	G6PD KERALA-KALYAN G6PD KERALA
chrX	153414994	153414995	G6PD	ARG	HIS	285	305900.0016	G6PD MONTALBANO
chrX	153415004	153415005	G6PD	ASP	HIS	282	305900.0010	G6PD SEATTLE-LIKE G6PD MODENA
chrX	153415042	153415043	G6PD	CYS	TYR	269	305900.0053	G6PD AVEIRO ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
chrX	153415533	153415534	G6PD	ARG	LEU	227	305900.0027	G6PD A-
chrX	153415533	153415534	G6PD	ARG	GLN	227	305900.0035	G6PD MEXICO CITY
chrX	153415567	153415570	G6PD	PHE	LEU	216	305900.0011	G6PD HARILAOU
chrX	153415753	153415754	G6PD	VAL	LEU	213	305900.0024	G6PD GASTONIA G6PD MARION
chrX	153415753	153415754	G6PD	VAL	LEU	213	305900.0024	 G6PD MINNESOTA
chrX	153415797	153415798	G6PD	ARG	PRO	198	305900.0034	G6PD SANTIAGO ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
chrX	153415797	153415798	G6PD	ARG	HIS	198	305900.0062	G6PD NILGIRI
chrX	153415798	153415799	G6PD	ARG	CYS	198	305900.0031	G6PD COIMBRA
chrX	153415798	153415799	G6PD	ARG	CYS	198	305900.0032	CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA
chrX	153415827	153415828	G6PD	SER	PHE	188	305900.0006	 G6PD CAGLIARI
chrX	153415827	153415828	G6PD	SER	PHE	188	305900.0006	G6PD MEDITERRANEAN G6PD SASSARI
chrX	153415846	153415847	G6PD	ARG	TRP	182	305900.0032	CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA
chrX	153415848	153415849	G6PD	ASP	VAL	181	305900.0023	G6PD SANTAMARIA
chrX	153415848	153415849	G6PD	ASP	VAL	181	305900.0049	G6PD MALAGA
chrX	153415873	153415876	G6PD	PHE	LEU	173	305900.0048	G6PD NANKANG
chrX	153415897	153415898	G6PD	ASN	ASP	165	305900.0033	G6PD TAIWAN-HAKKA 2
chrX	153415903	153415904	G6PD	GLY	SER	163	305900.0005	G6PD MAHIDOL
chrX	153416595	153416596	G6PD	GLU	LYS	156	305900.0004	G6PD ILESHA
chrX	153416658	153416659	G6PD	ASN	ASP	165	305900.0033	G6PD TAIWAN-HAKKA 2
chrX	153416669	153416670	G6PD	GLY	VAL	131	305900.0045	G6PD QUING YUAN
chrX	153416685	153416686	G6PD	ASN	ASP	126	305900.0001	G6PD A+
chrX	153416685	153416686	G6PD	ASN	ASP	126	305900.0002	G6PD A- G6PD MATERA
chrX	153416685	153416686	G6PD	ASN	ASP	126	305900.0002	 G6PD BETICA
chrX	153416685	153416686	G6PD	ASN	ASP	126	305900.0002	 G6PD CASTILLA
chrX	153416685	153416686	G6PD	ASN	ASP	126	305900.0002	 G6PD DISTRITO FEDERAL
chrX	153416685	153416686	G6PD	ASN	ASP	126	305900.0002	 G6PD TEPIC
chrX	153416685	153416686	G6PD	ASN	ASP	126	305900.0023	G6PD SANTAMARIA
chrX	153416744	153416745	G6PD	SER	CYS	106	305900.0032	CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA
chrX	153417410	153417411	G6PD	VAL	MET	68	305900.0002	G6PD A- G6PD MATERA
chrX	153417410	153417411	G6PD	VAL	MET	68	305900.0002	 G6PD BETICA
chrX	153417410	153417411	G6PD	VAL	MET	68	305900.0002	 G6PD CASTILLA
chrX	153417410	153417411	G6PD	VAL	MET	68	305900.0002	 G6PD DISTRITO FEDERAL
chrX	153417410	153417411	G6PD	VAL	MET	68	305900.0002	 G6PD TEPIC
chrX	153417410	153417411	G6PD	VAL	MET	68	305900.0054	G6PD ASAHI
chrX	153417440	153417441	G6PD	ASP	ASN	58	305900.0007	G6PD METAPONTO
chrX	153417564	153417565	G6PD	ILE	THR	48	305900.0043	G6PD AURES
chrX	153417576	153417577	G6PD	ALA	GLY	44	305900.0047	G6PD ORISSA
chrX	153427469	153427470	G6PD	HIS	ARG	32	305900.0044	G6PD GAOHE
chrX	153440057	153440058	IKBKG	ARG	GLY	173	300248.0023	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2
chrX	153441955	153441956	IKBKG	ALA	GLY	288	300248.0020	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
chrX	153444312	153444313	IKBKG	ALA	GLY	288	300248.0020	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
chrX	153444998	153444999	IKBKG	GLU	ALA	315	300248.0021	MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
chrX	153445010	153445011	IKBKG	ARG	GLN	319	300248.0022	MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
chrX	153445057	153445058	IKBKG	GLN	TER	403	300248.0015	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
chrX	153445780	153445781	IKBKG	GLU	TER	391	300248.0007	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
chrX	153445816	153445817	IKBKG	GLN	TER	403	300248.0015	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
chrX	153445826	153445827	IKBKG	ASP	VAL	406	300248.0011	HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
chrX	153445828	153445829	IKBKG	MET	VAL	407	300248.0005	INCONTINENTIA PIGMENTI, TYPE II
chrX	153445858	153445859	IKBKG	CYS	ARG	417	300248.0009	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC, INCLUDED
chrX	153445859	153445860	IKBKG	CYS	PHE	417	300248.0010	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
chrX	153445868	153445869	IKBKG	TER	TRP	420	300248.0002	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA
chrX	153646918	153646919	DKC1	GLN	LYS	31	300126.0013	DYSKERATOSIS CONGENITA, X-LINKED
chrX	153646933	153646934	DKC1	PHE	VAL	36	300126.0001	DYSKERATOSIS CONGENITA, X-LINKED
chrX	153646940	153646941	DKC1	ILE	THR	38	300126.0012	HOYERAAL-HREIDARSSON SYNDROME
chrX	153646946	153646947	DKC1	PRO	ARG	40	300126.0003	DYSKERATOSIS CONGENITA, X-LINKED
chrX	153646946	153646947	DKC1	LEU	TYR	72	300126.0004	DYSKERATOSIS CONGENITA, X-LINKED
chrX	153646973	153646974	DKC1	THR	MET	49	300126.0010	HOYERAAL-HREIDARSSON SYNDROME DYSKERATOSIS CONGENITA, X-LINKED, INCLUDED
chrX	153647781	153647782	DKC1	SER	GLY	121	300126.0011	HOYERAAL-HREIDARSSON SYNDROME
chrX	153654620	153654621	DKC1	ALA	VAL	353	300126.0006	DYSKERATOSIS CONGENITA, X-LINKED HOYERAAL-HREIDARSSON SYNDROME, INCLUDED
chrX	153654631	153654632	DKC1	THR	ALA	357	300126.0014	DYSKERATOSIS CONGENITA, X-LINKED
chrX	153656119	153656120	DKC1	GLY	GLU	402	300126.0005	DYSKERATOSIS CONGENITA, X-LINKED
chrX	153786386	153786387	F8	LYS	TER	1827	306700.0200	HEMOPHILIA A
chrX	153812875	153812876	F8	ARG	TER	795	306700.0165	HEMOPHILIA A
chrX	153812875	153812876	F8	GLY	GLU	1760	306700.0190	HEMOPHILIA A
chrX	153838448	153838449	F8	SER	PRO	577	306700.0148	HEMOPHILIA A
chrX	153847463	153847464	F8	TYR	CYS	473	306700.0132	HEMOPHILIA A
chrX	153847464	153847465	F8	TYR	HIS	473	306700.0131	HEMOPHILIA A
chrX	153850822	153850823	F8	CYS	TYR	329	306700.0118	HEMOPHILIA A
chrX	153850823	153850824	F8	CYS	ARG	329	306700.0058	HEMOPHILIA A
chrX	153850823	153850826	F8	CYS	SER	329	306700.0119	HEMOPHILIA A
chrY	515378	515379	SHOX	GLU	TER	102	312865.0011	LERI-WEILL DYSCHONDROSTEOSIS
chrY	515468	515469	SHOX	LEU	VAL	132	312865.0004	LERI-WEILL DYSCHONDROSTEOSIS
chrY	515532	515533	SHOX	ARG	LEU	153	312865.0005	LERI-WEILL DYSCHONDROSTEOSIS
chrY	521570	521571	SHOX	ARG	TRP	168	312865.0008	LANGER MESOMELIC DYSPLASIA LERI-WEILL DYSCHONDROSTEOSIS, INCLUDED
chrY	521585	521586	SHOX	ARG	CYS	173	312865.0007	LERI-WEILL DYSCHONDROSTEOSIS
chrY	521771	521772	SHOX	ARG	TER	195	312865.0001	SHORT STATURE, IDIOPATHIC, X-LINKED
chrY	521785	521786	SHOX	TYR	TER	199	312865.0002	LERI-WEILL DYSCHONDROSTEOSIS
chrY	525368	525369	SHOX	TER	ARG	293	312865.0012	LERI-WEILL DYSCHONDROSTEOSIS
chrY	2715247	2715248	SRY	ARG	TRP	133	480000.0019	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715264	2715265	SRY	TYR	PHE	127	480000.0023	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715307	2715308	SRY	ALA	THR	113	480000.0009	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715318	2715319	SRY	PHE	SER	109	480000.0003	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715325	2715328	SRY	TRP	TER	107	480000.0010	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715327	2715328	SRY	LYS	ILE	106	480000.0007	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715360	2715361	SRY	GLY	GLU	95	480000.0022	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715361	2715362	SRY	GLY	ARG	95	480000.0016	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715367	2715368	SRY	GLN	TER	93	480000.0005	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715370	2715371	SRY	LYS	TER	92	480000.0015	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715374	2715375	SRY	ILE	MET	90	480000.0006	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED 46,XY TRUE HERMAPHRODITISM, INCLUDED
chrY	2715436	2715439	SRY	TRP	TER	70	480000.0013	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715441	2715442	SRY	ILE	THR	68	480000.0011	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715452	2715453	SRY	MET	ILE	64	480000.0012	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715466	2715467	SRY	VAL	LEU	60	480000.0004	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715591	2715592	SRY	SER	ASN	18	480000.0021	GONADAL DYSGENESIS, PARTIAL
chrY	2715632	2715633	SRY	TYR	TER	4	480000.0018	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED
chrY	2715640	2715641	SRY	GLN	TER	2	480000.0020	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED, WITH PARTIAL OVARIAN FUNCTION