Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.42060903_42060915del	CA2577736655	NAGA	c.1101+9_1101+21del (n.1101+9_1101+21del)
22	g.42060906A>G	CA2657021377	NAGA	c.1101+18T>C (n.1101+18T>C)	gnomAD v4
22	g.42060906A>T	CA2657021378	NAGA	c.1101+18T>A (n.1101+18T>A)	gnomAD v4
22	g.42060908G>A	CA2657021379	NAGA	c.1101+16C>T (n.1101+16C>T)	gnomAD v4
22	g.42060908_42060910delinsGCA	CA2406547690	NAGA	c.1101+14_1101+16delinsTGC (n.1101+14_1101+16delinsTGC)
22	g.42060909_42060910del	CA10263600	NAGA	c.1101+14_1101+15del (n.1101+14_1101+15del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060911G>T	CA2819057005	NAGA	c.1101+13C>A (n.1101+13C>A)
22	g.42060912C=	CA2406547691	NAGA	c.1101+12G= (n.1101+12G=)
22	g.42060912C>T	CA639474004	NAGA	c.1101+12G>A (n.1101+12G>A)	dbSNP gnomAD v2 gnomAD v4
22	g.42060913del	CA2537130471	NAGA	c.1101+12del (n.1101+12del)
22	g.42060913C=	CA2406547692	NAGA	c.1101+11G= (n.1101+11G=)
22	g.42060913C>G	CA324650110	NAGA	c.1101+11G>C (n.1101+11G>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.42060913C>T	CA10263601	NAGA	c.1101+11G>A (n.1101+11G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060914G>A	CA1025941884	NAGA	c.1101+10C>T (n.1101+10C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.42060914G>C	CA2697552785	NAGA	c.1101+10C>G (n.1101+10C>G)	ClinVar
22	g.42060914G=	CA2406547693	NAGA	c.1101+10C= (n.1101+10C=)
22	g.42060914G>T	CA2577736656	NAGA	c.1101+10C>A (n.1101+10C>A)
22	g.42060915G>A	CA10263602	NAGA	c.1101+9C>T (n.1101+9C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42060915G=	CA2406547694	NAGA	c.1101+9C= (n.1101+9C=)
22	g.42060916G>A	CA2406547696	NAGA	c.1101+8C>T (n.1101+8C>T)	dbSNP gnomAD v4
22	g.42060916G=	CA2406547695	NAGA	c.1101+8C= (n.1101+8C=)
22	g.42060917T>G	CA2406547698	NAGA	c.1101+7A>C (n.1101+7A>C)	dbSNP gnomAD v4
22	g.42060917T=	CA2406547697	NAGA	c.1101+7A= (n.1101+7A=)
22	g.42060919C=	CA2406547699	NAGA	c.1101+5G= (n.1101+5G=)
22	g.42060919C>G	CA639474009	NAGA	c.1101+5G>C (n.1101+5G>C)	dbSNP gnomAD v2 gnomAD v4
22	g.42060921C=	CA2406547700	NAGA	c.1101+3G= (n.1101+3G=)
22	g.42060921C>T	CA2406547701	NAGA	c.1101+3G>A (n.1101+3G>A)	dbSNP
22	g.42060922A>C	CA411766020	NAGA	c.1101+2T>G (n.1101+2T>G)
22	g.42060922A>G	CA411766021	NAGA	c.1101+2T>C (n.1101+2T>C)
22	g.42060922A>T	CA411766022	NAGA	c.1101+2T>A (n.1101+2T>A)
22	g.42060923C>A	CA411766025	NAGA	c.1101+1G>T (n.1101+1G>T)
22	g.42060923C>G	CA411766023	NAGA	c.1101+1G>C (n.1101+1G>C)
22	g.42060923C>T	CA411766024	NAGA	c.1101+1G>A (n.1101+1G>A)	gnomAD v4
22	g.42060924C>A	CA411766026	NAGA	c.1101G>T (p.Glu367Asp)
22	g.42060924C>G	CA411766027	NAGA	c.1101G>C (p.Glu367Asp)
22	g.42060924C>T	CA514676462	NAGA	c.1101G>A (p.Glu367=)	gnomAD v4
22	g.42060925T>A	CA411766028	NAGA	c.1100A>T (p.Glu367Val)
22	g.42060925T>C	CA411766029	NAGA	c.1100A>G (p.Glu367Gly)
22	g.42060925T>G	CA411766030	NAGA	c.1100A>C (p.Glu367Ala)
22	g.42060926C>A	CA411766032	NAGA	c.1099G>T (p.Glu367Ter)
22	g.42060926C=	CA2406547702	NAGA	c.1099G= (p.Glu367=)
22	g.42060926C>G	CA411766031	NAGA	c.1099G>C (p.Glu367Gln)
22	g.42060926C>T	CA10263603	NAGA	c.1099G>A (p.Glu367Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060926_42060927del	CA2657021380	NAGA	c.1098_1099del (p.Tyr366Ter)	gnomAD v4
22	g.42060926_42060928delinsCAT	CA2406547703	NAGA	c.1097_1099delinsATG (p.Tyr366=)
22	g.42060927A=	CA2406547704	NAGA	c.1098T= (p.Tyr366=)
22	g.42060927A>C	CA411766033	NAGA	c.1098T>G (p.Tyr366Ter)
22	g.42060927A>G	CA10263604	NAGA	c.1098T>C (p.Tyr366=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060927A>T	CA411766034	NAGA	c.1098T>A (p.Tyr366Ter)	dbSNP
22	g.42060931_42060932del	CA915951390	NAGA	c.1097_1098del (p.Tyr366Ter)	ClinVar dbSNP gnomAD v4
22	g.42060928T>A	CA411766035	NAGA	c.1097A>T (p.Tyr366Phe)
22	g.42060928T>C	CA411766036	NAGA	c.1097A>G (p.Tyr366Cys)	gnomAD v4
22	g.42060928T>G	CA411766037	NAGA	c.1097A>C (p.Tyr366Ser)
22	g.42060929A=	CA2406547705	NAGA	c.1096T= (p.Tyr366=)
22	g.42060929A>C	CA411766038	NAGA	c.1096T>G (p.Tyr366Asp)
22	g.42060929A>G	CA10263605	NAGA	c.1096T>C (p.Tyr366His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060929A>T	CA411766039	NAGA	c.1096T>A (p.Tyr366Asn)	gnomAD v4
22	g.42060930T>A	CA514676468	NAGA	c.1095A>T (p.Ile365=)
22	g.42060930T>C	CA10263606	NAGA	c.1095A>G (p.Ile365Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060930T>G	CA514676467	NAGA	c.1095A>C (p.Ile365=)
22	g.42060930T=	CA2406547706	NAGA	c.1095A= (p.Ile365=)
22	g.42060931A>C	CA411766040	NAGA	c.1094T>G (p.Ile365Arg)
22	g.42060931A>G	CA411766041	NAGA	c.1094T>C (p.Ile365Thr)
22	g.42060931A>T	CA411766042	NAGA	c.1094T>A (p.Ile365Lys)
22	g.42060932T>A	CA411766043	NAGA	c.1093A>T (p.Ile365Leu)
22	g.42060932T>C	CA411766045	NAGA	c.1093A>G (p.Ile365Val)
22	g.42060932T>G	CA411766044	NAGA	c.1093A>C (p.Ile365Leu)
22	g.42060933C>A	CA514676471	NAGA	c.1092G>T (p.Val364=)
22	g.42060933C>G	CA514676470	NAGA	c.1092G>C (p.Val364=)
22	g.42060933C>T	CA514676472	NAGA	c.1092G>A (p.Val364=)
22	g.42060934A>C	CA411766046	NAGA	c.1091T>G (p.Val364Gly)
22	g.42060934A>G	CA411766047	NAGA	c.1091T>C (p.Val364Ala)
22	g.42060934A>T	CA411766048	NAGA	c.1091T>A (p.Val364Glu)
22	g.42060935C>A	CA411766049	NAGA	c.1090G>T (p.Val364Leu)
22	g.42060935C>G	CA411766050	NAGA	c.1090G>C (p.Val364Leu)
22	g.42060935C>T	CA411766051	NAGA	c.1090G>A (p.Val364Met)
22	g.42060936A=	CA2406547707	NAGA	c.1089T= (p.Ser363=)
22	g.42060936A>C	CA514676474	NAGA	c.1089T>G (p.Ser363=)	ClinVar dbSNP gnomAD v4
22	g.42060936A>G	CA514676476	NAGA	c.1089T>C (p.Ser363=)	gnomAD v4
22	g.42060936A>T	CA514676478	NAGA	c.1089T>A (p.Ser363=)
22	g.42060937G>A	CA10263607	NAGA	c.1088C>T (p.Ser363Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42060937G>C	CA411766052	NAGA	c.1088C>G (p.Ser363Cys)
22	g.42060937G=	CA2406547708	NAGA	c.1088C= (p.Ser363=)
22	g.42060937G>T	CA411766053	NAGA	c.1088C>A (p.Ser363Tyr)
22	g.42060938A>C	CA411766054	NAGA	c.1087T>G (p.Ser363Ala)
22	g.42060938A>G	CA411766055	NAGA	c.1087T>C (p.Ser363Pro)	gnomAD v4
22	g.42060938A>T	CA411766056	NAGA	c.1087T>A (p.Ser363Thr)
22	g.42060939C>A	CA514676479	NAGA	c.1086G>T (p.Gly362=)
22	g.42060939C>G	CA514676480	NAGA	c.1086G>C (p.Gly362=)
22	g.42060939C>T	CA514676481	NAGA	c.1086G>A (p.Gly362=)
22	g.42060940C>A	CA10263608	NAGA	c.1085G>T (p.Gly362Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060940C=	CA2406547709	NAGA	c.1085G= (p.Gly362=)
22	g.42060940C>G	CA411766057	NAGA	c.1085G>C (p.Gly362Ala)
22	g.42060940C>T	CA10263609	NAGA	c.1085G>A (p.Gly362Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060941C>A	CA10263610	NAGA	c.1084G>T (p.Gly362Trp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060941C=	CA2406547710	NAGA	c.1084G= (p.Gly362=)
22	g.42060941C>G	CA411766058	NAGA	c.1084G>C (p.Gly362Arg)
22	g.42060941C>T	CA411766059	NAGA	c.1084G>A (p.Gly362Arg)	ClinVar dbSNP gnomAD v4
22	g.42060942G>A	CA10263611	NAGA	c.1083C>T (p.Thr361=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060942G>C	CA514676483	NAGA	c.1083C>G (p.Thr361=)	gnomAD v4
22	g.42060942G=	CA2406547711	NAGA	c.1083C= (p.Thr361=)
22	g.42060942G>T	CA514676482	NAGA	c.1083C>A (p.Thr361=)	ClinVar
22	g.42060943G>A	CA411766062	NAGA	c.1082C>T (p.Thr361Ile)	dbSNP
22	g.42060943G>C	CA411766061	NAGA	c.1082C>G (p.Thr361Ser)
22	g.42060943G=	CA2406547712	NAGA	c.1082C= (p.Thr361=)
22	g.42060943G>T	CA411766060	NAGA	c.1082C>A (p.Thr361Asn)
22	g.42060944T>A	CA411766063	NAGA	c.1081A>T (p.Thr361Ser)
22	g.42060944T>C	CA411766064	NAGA	c.1081A>G (p.Thr361Ala)	gnomAD v4
22	g.42060944T>G	CA411766065	NAGA	c.1081A>C (p.Thr361Pro)
22	g.42060945del	CA2657021381	NAGA	c.1080del (p.Phe360LeufsTer5)	gnomAD v4
22	g.42060945G>A	CA10263612	NAGA	c.1080C>T (p.Phe360=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42060945G>C	CA411766066	NAGA	c.1080C>G (p.Phe360Leu)
22	g.42060945G=	CA2406547713	NAGA	c.1080C= (p.Phe360=)
22	g.42060945G>T	CA411766067	NAGA	c.1080C>A (p.Phe360Leu)
22	g.42060946A>C	CA411766068	NAGA	c.1079T>G (p.Phe360Cys)
22	g.42060946A>G	CA411766070	NAGA	c.1079T>C (p.Phe360Ser)
22	g.42060946A>T	CA411766069	NAGA	c.1079T>A (p.Phe360Tyr)
22	g.42060947A>C	CA411766071	NAGA	c.1078T>G (p.Phe360Val)
22	g.42060947A>G	CA411766073	NAGA	c.1078T>C (p.Phe360Leu)
22	g.42060947A>T	CA411766072	NAGA	c.1078T>A (p.Phe360Ile)
22	g.42060948G>A	CA514676484	NAGA	c.1077C>T (p.Asn359=)
22	g.42060948G>C	CA411766074	NAGA	c.1077C>G (p.Asn359Lys)
22	g.42060948G>T	CA411766075	NAGA	c.1077C>A (p.Asn359Lys)
22	g.42060949T>A	CA411766076	NAGA	c.1076A>T (p.Asn359Ile)
22	g.42060949T>C	CA411766077	NAGA	c.1076A>G (p.Asn359Ser)
22	g.42060949T>G	CA411766078	NAGA	c.1076A>C (p.Asn359Thr)
22	g.42060950T>A	CA411766079	NAGA	c.1075A>T (p.Asn359Tyr)
22	g.42060950T>C	CA411766080	NAGA	c.1075A>G (p.Asn359Asp)
22	g.42060950T>G	CA411766081	NAGA	c.1075A>C (p.Asn359His)
22	g.42060951C>A	CA514676485	NAGA	c.1074G>T (p.Leu358=)
22	g.42060951C=	CA2406547714	NAGA	c.1074G= (p.Leu358=)
22	g.42060951C>G	CA514676486	NAGA	c.1074G>C (p.Leu358=)
22	g.42060951C>T	CA10263613	NAGA	c.1074G>A (p.Leu358=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42060952A>C	CA411766082	NAGA	c.1073T>G (p.Leu358Arg)
22	g.42060952A>G	CA411766083	NAGA	c.1073T>C (p.Leu358Pro)
22	g.42060952A>T	CA411766084	NAGA	c.1073T>A (p.Leu358Gln)
22	g.42060953G>A	CA514676487	NAGA	c.1072C>T (p.Leu358=)
22	g.42060953G>C	CA411766085	NAGA	c.1072C>G (p.Leu358Val)	gnomAD v4
22	g.42060953G>T	CA411766086	NAGA	c.1072C>A (p.Leu358Met)
22	g.42060954C>A	CA411766087	NAGA	c.1071G>T (p.Gln357His)
22	g.42060954C>G	CA411766088	NAGA	c.1071G>C (p.Gln357His)
22	g.42060954C>T	CA514676488	NAGA	c.1071G>A (p.Gln357=)
22	g.42060955T>A	CA411766089	NAGA	c.1070A>T (p.Gln357Leu)
22	g.42060955T>C	CA411766090	NAGA	c.1070A>G (p.Gln357Arg)
22	g.42060955T>G	CA411766091	NAGA	c.1070A>C (p.Gln357Pro)
22	g.42060956G>A	CA411766092	NAGA	c.1069C>T (p.Gln357Ter)	gnomAD v4 COSMIC
22	g.42060956G>C	CA411766093	NAGA	c.1069C>G (p.Gln357Glu)
22	g.42060956G>T	CA411766094	NAGA	c.1069C>A (p.Gln357Lys)
22	g.42060957G>A	CA514676490	NAGA	c.1068C>T (p.Gly356=)
22	g.42060957G>C	CA514676489	NAGA	c.1068C>G (p.Gly356=)
22	g.42060957G>T	CA514676491	NAGA	c.1068C>A (p.Gly356=)
22	g.42060958C>A	CA411766095	NAGA	c.1067G>T (p.Gly356Val)
22	g.42060958C=	CA2406547715	NAGA	c.1067G= (p.Gly356=)
22	g.42060958C>G	CA411766096	NAGA	c.1067G>C (p.Gly356Ala)	gnomAD v4
22	g.42060958C>T	CA411766097	NAGA	c.1067G>A (p.Gly356Asp)	dbSNP
22	g.42060959C>A	CA411766098	NAGA	c.1066G>T (p.Gly356Cys)
22	g.42060959C=	CA2406547716	NAGA	c.1066G= (p.Gly356=)
22	g.42060959C>G	CA411766099	NAGA	c.1066G>C (p.Gly356Arg)
22	g.42060959C>T	CA10263614	NAGA	c.1066G>A (p.Gly356Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060960A>C	CA514676493	NAGA	c.1065T>G (p.Leu355=)
22	g.42060960A>G	CA514676494	NAGA	c.1065T>C (p.Leu355=)
22	g.42060960A>T	CA514676495	NAGA	c.1065T>A (p.Leu355=)
22	g.42060961A>C	CA411766100	NAGA	c.1064T>G (p.Leu355Arg)
22	g.42060961A>G	CA411766101	NAGA	c.1064T>C (p.Leu355Pro)
22	g.42060961A>T	CA411766102	NAGA	c.1064T>A (p.Leu355His)
22	g.42060962G>A	CA411766103	NAGA	c.1063C>T (p.Leu355Phe)
22	g.42060962G>C	CA411766104	NAGA	c.1063C>G (p.Leu355Val)
22	g.42060962G>T	CA411766105	NAGA	c.1063C>A (p.Leu355Ile)
22	g.42060963G>A	CA514676496	NAGA	c.1062C>T (p.Ser354=)
22	g.42060963G>C	CA514676497	NAGA	c.1062C>G (p.Ser354=)
22	g.42060963G>T	CA514676498	NAGA	c.1062C>A (p.Ser354=)
22	g.42060964G>A	CA411766106	NAGA	c.1061C>T (p.Ser354Phe)
22	g.42060964G>C	CA411766107	NAGA	c.1061C>G (p.Ser354Cys)
22	g.42060964G>T	CA411766108	NAGA	c.1061C>A (p.Ser354Tyr)
22	g.42060965A>C	CA411766109	NAGA	c.1060T>G (p.Ser354Ala)
22	g.42060965A>G	CA411766110	NAGA	c.1060T>C (p.Ser354Pro)
22	g.42060965A>T	CA411766111	NAGA	c.1060T>A (p.Ser354Thr)
22	g.42060966G>A	CA514676499	NAGA	c.1059C>T (p.Ser353=)
22	g.42060966G>C	CA514676500	NAGA	c.1059C>G (p.Ser353=)
22	g.42060966G>T	CA514676501	NAGA	c.1059C>A (p.Ser353=)
22	g.42060967del	CA2657021382	NAGA	c.1059del (p.Ser354ProfsTer5)	gnomAD v4
22	g.42060967G>A	CA411766113	NAGA	c.1058C>T (p.Ser353Phe)	COSMIC
22	g.42060967G>C	CA411766114	NAGA	c.1058C>G (p.Ser353Cys)
22	g.42060967G>T	CA411766112	NAGA	c.1058C>A (p.Ser353Tyr)
22	g.42060968A=	CA2406547717	NAGA	c.1057T= (p.Ser353=)
22	g.42060968A>C	CA411766115	NAGA	c.1057T>G (p.Ser353Ala)	dbSNP gnomAD v3 gnomAD v4
22	g.42060968A>G	CA411766116	NAGA	c.1057T>C (p.Ser353Pro)
22	g.42060968A>T	CA411766117	NAGA	c.1057T>A (p.Ser353Thr)
22	g.42060969G>A	CA514676502	NAGA	c.1056C>T (p.His352=)
22	g.42060969G>C	CA411766118	NAGA	c.1056C>G (p.His352Gln)
22	g.42060969G>T	CA411766119	NAGA	c.1056C>A (p.His352Gln)
22	g.42060970T>A	CA411766122	NAGA	c.1055A>T (p.His352Leu)
22	g.42060970T>C	CA411766120	NAGA	c.1055A>G (p.His352Arg)
22	g.42060970T>G	CA411766121	NAGA	c.1055A>C (p.His352Pro)
22	g.42060971G>A	CA411766123	NAGA	c.1054C>T (p.His352Tyr)
22	g.42060971G>C	CA411766124	NAGA	c.1054C>G (p.His352Asp)
22	g.42060971G>T	CA411766125	NAGA	c.1054C>A (p.His352Asn)
22	g.42060972G>A	CA324650169	NAGA	c.1053C>T (p.Tyr351=)	dbSNP gnomAD v3 gnomAD v4
22	g.42060972G>C	CA411766126	NAGA	c.1053C>G (p.Tyr351Ter)
22	g.42060972G=	CA2406547718	NAGA	c.1053C= (p.Tyr351=)
22	g.42060972G>T	CA411766127	NAGA	c.1053C>A (p.Tyr351Ter)
22	g.42060973T>A	CA411766128	NAGA	c.1052A>T (p.Tyr351Phe)
22	g.42060973T>C	CA411766130	NAGA	c.1052A>G (p.Tyr351Cys)
22	g.42060973T>G	CA411766129	NAGA	c.1052A>C (p.Tyr351Ser)
22	g.42060974A>C	CA411766131	NAGA	c.1051T>G (p.Tyr351Asp)
22	g.42060974A>G	CA411766133	NAGA	c.1051T>C (p.Tyr351His)	COSMIC
22	g.42060974A>T	CA411766132	NAGA	c.1051T>A (p.Tyr351Asn)
22	g.42060975G>A	CA514676503	NAGA	c.1050C>T (p.Arg350=)
22	g.42060975G>C	CA514676504	NAGA	c.1050C>G (p.Arg350=)
22	g.42060975G>T	CA514676505	NAGA	c.1050C>A (p.Arg350=)
22	g.42060976C>A	CA411766134	NAGA	c.1049G>T (p.Arg350Leu)
22	g.42060976C=	CA2406547719	NAGA	c.1049G= (p.Arg350=)
22	g.42060976C>G	CA411766138	NAGA	c.1049G>C (p.Arg350Pro)
22	g.42060976C>T	CA10263615	NAGA	c.1049G>A (p.Arg350His)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42060977G>A	CA411766141	NAGA	c.1048C>T (p.Arg350Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060977G>C	CA411766143	NAGA	c.1048C>G (p.Arg350Gly)
22	g.42060977G=	CA2406547720	NAGA	c.1048C= (p.Arg350=)
22	g.42060977G>T	CA411766146	NAGA	c.1048C>A (p.Arg350Ser)	gnomAD v4
22	g.42060978A>C	CA411766149	NAGA	c.1047T>G (p.Tyr349Ter)	ClinVar
22	g.42060978A>G	CA514676506	NAGA	c.1047T>C (p.Tyr349=)
22	g.42060978A>T	CA411766151	NAGA	c.1047T>A (p.Tyr349Ter)
22	g.42060979T>A	CA10263616	NAGA	c.1046A>T (p.Tyr349Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060979T>C	CA411766155	NAGA	c.1046A>G (p.Tyr349Cys)	dbSNP gnomAD v2 gnomAD v4
22	g.42060979T>G	CA411766157	NAGA	c.1046A>C (p.Tyr349Ser)
22	g.42060979T=	CA2406547721	NAGA	c.1046A= (p.Tyr349=)
22	g.42060980A=	CA2406547722	NAGA	c.1045T= (p.Tyr349=)
22	g.42060980A>C	CA411766161	NAGA	c.1045T>G (p.Tyr349Asp)
22	g.42060980A>G	CA10263617	NAGA	c.1045T>C (p.Tyr349His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060980A>T	CA411766165	NAGA	c.1045T>A (p.Tyr349Asn)
22	g.42060981A>C	CA514676507	NAGA	c.1044T>G (p.Pro348=)
22	g.42060981A>G	CA514676509	NAGA	c.1044T>C (p.Pro348=)
22	g.42060981A>T	CA514676508	NAGA	c.1044T>A (p.Pro348=)
22	g.42060982G>A	CA411766172	NAGA	c.1043C>T (p.Pro348Leu)
22	g.42060982G>C	CA411766170	NAGA	c.1043C>G (p.Pro348Arg)
22	g.42060982G>T	CA411766169	NAGA	c.1043C>A (p.Pro348His)
22	g.42060983dup	CA2657021383	NAGA	c.1043dup (p.Tyr349LeufsTer19)	gnomAD v4
22	g.42060983del	CA2819057006	NAGA	c.1043del (p.Pro348LeufsTer11)
22	g.42060983G>A	CA411766175	NAGA	c.1042C>T (p.Pro348Ser)	COSMIC
22	g.42060983G>C	CA411766177	NAGA	c.1042C>G (p.Pro348Ala)	dbSNP gnomAD v3 gnomAD v4
22	g.42060983G=	CA2406547723	NAGA	c.1042C= (p.Pro348=)
22	g.42060983G>T	CA411766180	NAGA	c.1042C>A (p.Pro348Thr)
22	g.42060984C>A	CA411766183	NAGA	c.1041G>T (p.Met347Ile)
22	g.42060984C>G	CA411766186	NAGA	c.1041G>C (p.Met347Ile)
22	g.42060984C>T	CA411766188	NAGA	c.1041G>A (p.Met347Ile)
22	g.42060985A=	CA2406547724	NAGA	c.1040T= (p.Met347=)
22	g.42060985A>C	CA411766191	NAGA	c.1040T>G (p.Met347Arg)
22	g.42060985A>G	CA10263618	NAGA	c.1040T>C (p.Met347Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060985A>T	CA411766196	NAGA	c.1040T>A (p.Met347Lys)
22	g.42060986T>A	CA411766200	NAGA	c.1039A>T (p.Met347Leu)
22	g.42060986T>C	CA411766202	NAGA	c.1039A>G (p.Met347Val)	dbSNP
22	g.42060986T>G	CA411766204	NAGA	c.1039A>C (p.Met347Leu)
22	g.42060986T=	CA2406547726	NAGA	c.1039A= (p.Met347=)
22	g.42060986dup	CA2406547725	NAGA	c.1039dup (p.Met347AsnfsTer21)	dbSNP
22	g.42060987A>C	CA411766207	NAGA	c.1038T>G (p.Asp346Glu)
22	g.42060987A>G	CA514676510	NAGA	c.1038T>C (p.Asp346=)	gnomAD v4
22	g.42060987A>T	CA411766209	NAGA	c.1038T>A (p.Asp346Glu)
22	g.42060988T>A	CA411766211	NAGA	c.1037A>T (p.Asp346Val)
22	g.42060988T>C	CA411766213	NAGA	c.1037A>G (p.Asp346Gly)	gnomAD v4
22	g.42060988T>G	CA411766215	NAGA	c.1037A>C (p.Asp346Ala)
22	g.42060989C>A	CA411766219	NAGA	c.1036G>T (p.Asp346Tyr)
22	g.42060989C=	CA2406547727	NAGA	c.1036G= (p.Asp346=)
22	g.42060989C>G	CA411766221	NAGA	c.1036G>C (p.Asp346His)	dbSNP gnomAD v3 gnomAD v4
22	g.42060989C>T	CA10263619	NAGA	c.1036G>A (p.Asp346Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060990G>A	CA10263620	NAGA	c.1035C>T (p.Thr345=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060990G>C	CA514676511	NAGA	c.1035C>G (p.Thr345=)	gnomAD v4
22	g.42060990G=	CA2406547728	NAGA	c.1035C= (p.Thr345=)
22	g.42060990G>T	CA514676512	NAGA	c.1035C>A (p.Thr345=)
22	g.42060991G>A	CA411766229	NAGA	c.1034C>T (p.Thr345Ile)	gnomAD v4 COSMIC
22	g.42060991G>C	CA411766230	NAGA	c.1034C>G (p.Thr345Ser)
22	g.42060991G>T	CA411766233	NAGA	c.1034C>A (p.Thr345Asn)	gnomAD v4
22	g.42060992T>A	CA411766236	NAGA	c.1033A>T (p.Thr345Ser)
22	g.42060992T>C	CA411766238	NAGA	c.1033A>G (p.Thr345Ala)
22	g.42060992T>G	CA411766239	NAGA	c.1033A>C (p.Thr345Pro)
22	g.42060993C>A	CA411766244	NAGA	c.1032G>T (p.Arg344Ser)
22	g.42060993C>G	CA411766241	NAGA	c.1032G>C (p.Arg344Ser)
22	g.42060993C>T	CA514676513	NAGA	c.1032G>A (p.Arg344=)	gnomAD v4
22	g.42060994C>A	CA411766248	NAGA	c.1031G>T (p.Arg344Met)
22	g.42060994C>G	CA411766250	NAGA	c.1031G>C (p.Arg344Thr)
22	g.42060994C>T	CA411766252	NAGA	c.1031G>A (p.Arg344Lys)
22	g.42060995T>A	CA411766255	NAGA	c.1030A>T (p.Arg344Trp)
22	g.42060995T>C	CA411766257	NAGA	c.1030A>G (p.Arg344Gly)	gnomAD v4 COSMIC
22	g.42060995T>G	CA514676514	NAGA	c.1030A>C (p.Arg344=)
22	g.42060996G>A	CA514676515	NAGA	c.1029C>T (p.Cys343=)
22	g.42060996G>C	CA411766260	NAGA	c.1029C>G (p.Cys343Trp)
22	g.42060996G>T	CA411766262	NAGA	c.1029C>A (p.Cys343Ter)	ClinVar gnomAD v4
22	g.42060997C>A	CA411766264	NAGA	c.1028G>T (p.Cys343Phe)
22	g.42060997C>G	CA411766265	NAGA	c.1028G>C (p.Cys343Ser)
22	g.42060997C>T	CA411766266	NAGA	c.1028G>A (p.Cys343Tyr)
22	g.42060998A>C	CA411766267	NAGA	c.1027T>G (p.Cys343Gly)
22	g.42060998A>G	CA411766268	NAGA	c.1027T>C (p.Cys343Arg)	dbSNP
22	g.42060998A>T	CA411766269	NAGA	c.1027T>A (p.Cys343Ser)
22	g.42060999G>A	CA514676516	NAGA	c.1026C>T (p.Ser342=)
22	g.42060999G>C	CA411766271	NAGA	c.1026C>G (p.Ser342Arg)
22	g.42060999G>T	CA411766270	NAGA	c.1026C>A (p.Ser342Arg)
22	g.42061000C>A	CA411766272	NAGA	c.1025G>T (p.Ser342Ile)	dbSNP gnomAD v3 gnomAD v4
22	g.42061000C=	CA2406547729	NAGA	c.1025G= (p.Ser342=)
22	g.42061000C>G	CA411766273	NAGA	c.1025G>C (p.Ser342Thr)
22	g.42061000C>T	CA411766274	NAGA	c.1025G>A (p.Ser342Asn)
22	g.42061001T>A	CA411766275	NAGA	c.1024A>T (p.Ser342Cys)
22	g.42061001T>C	CA411766276	NAGA	c.1024A>G (p.Ser342Gly)
22	g.42061001T>G	CA411766277	NAGA	c.1024A>C (p.Ser342Arg)
22	g.42061001_42061004delinsTGAA	CA2406547730	NAGA	c.1021_1024delinsTTCA (p.Phe341=)
22	g.42061002G>A	CA514676517	NAGA	c.1023C>T (p.Phe341=)	gnomAD v4
22	g.42061002G>C	CA411766278	NAGA	c.1023C>G (p.Phe341Leu)
22	g.42061002G>T	CA411766279	NAGA	c.1023C>A (p.Phe341Leu)
22	g.42061007_42061009del	CA2406547731	NAGA	c.1021_1023del (p.Phe341del)	dbSNP
22	g.42061003A>C	CA411766280	NAGA	c.1022T>G (p.Phe341Cys)
22	g.42061003A>G	CA411766281	NAGA	c.1022T>C (p.Phe341Ser)
22	g.42061003A>T	CA411766282	NAGA	c.1022T>A (p.Phe341Tyr)
22	g.42061004A>C	CA411766283	NAGA	c.1021T>G (p.Phe341Val)
22	g.42061004A>G	CA411766284	NAGA	c.1021T>C (p.Phe341Leu)
22	g.42061004A>T	CA411766285	NAGA	c.1021T>A (p.Phe341Ile)
22	g.42061005G>A	CA514676518	NAGA	c.1020C>T (p.Phe340=)	gnomAD v4
22	g.42061005G>C	CA411766287	NAGA	c.1020C>G (p.Phe340Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.42061005G=	CA2406547732	NAGA	c.1020C= (p.Phe340=)
22	g.42061005G>T	CA411766286	NAGA	c.1020C>A (p.Phe340Leu)
22	g.42061006A=	CA2406547733	NAGA	c.1019T= (p.Phe340=)
22	g.42061006A>C	CA411766288	NAGA	c.1019T>G (p.Phe340Cys)
22	g.42061006A>G	CA10263621	NAGA	c.1019T>C (p.Phe340Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42061006A>T	CA411766289	NAGA	c.1019T>A (p.Phe340Tyr)

Number of alleles fetched