Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63945363C>A	CA400617681	SCN4A	c.3717G>T (p.Gln1239His)
17	g.63945363C>G	CA400617682	SCN4A	c.3717G>C (p.Gln1239His)
17	g.63945363C>T	CA501348560	SCN4A	c.3717G>A (p.Gln1239=)
17	g.63945364T>A	CA400617683	SCN4A	c.3716A>T (p.Gln1239Leu)
17	g.63945364T>C	CA400617684	SCN4A	c.3716A>G (p.Gln1239Arg)
17	g.63945364T>G	CA400617685	SCN4A	c.3716A>C (p.Gln1239Pro)
17	g.63945365G>A	CA400617686	SCN4A	c.3715C>T (p.Gln1239Ter)	gnomAD v4
17	g.63945365G>C	CA400617687	SCN4A	c.3715C>G (p.Gln1239Glu)
17	g.63945365G>T	CA400617688	SCN4A	c.3715C>A (p.Gln1239Lys)
17	g.63945366C>A	CA501348564	SCN4A	c.3714G>T (p.Leu1238=)
17	g.63945366C>G	CA501348566	SCN4A	c.3714G>C (p.Leu1238=)
17	g.63945366C>T	CA501348568	SCN4A	c.3714G>A (p.Leu1238=)
17	g.63945367A>C	CA400617689	SCN4A	c.3713T>G (p.Leu1238Arg)
17	g.63945367A>G	CA400617690	SCN4A	c.3713T>C (p.Leu1238Pro)
17	g.63945367A>T	CA400617691	SCN4A	c.3713T>A (p.Leu1238Gln)
17	g.63945368G>A	CA501348570	SCN4A	c.3712C>T (p.Leu1238=)	dbSNP
17	g.63945368G>C	CA400617694	SCN4A	c.3712C>G (p.Leu1238Val)
17	g.63945368G=	CA2270162478	SCN4A	c.3712C= (p.Leu1238=)
17	g.63945368G>T	CA400617692	SCN4A	c.3712C>A (p.Leu1238Met)
17	g.63945369G>A	CA501348571	SCN4A	c.3711C>T (p.Leu1237=)	gnomAD v4
17	g.63945369G>C	CA501348572	SCN4A	c.3711C>G (p.Leu1237=)	COSMIC
17	g.63945369G>T	CA501348573	SCN4A	c.3711C>A (p.Leu1237=)
17	g.63945370A>C	CA400617695	SCN4A	c.3710T>G (p.Leu1237Arg)
17	g.63945370A>G	CA400617696	SCN4A	c.3710T>C (p.Leu1237Pro)
17	g.63945370A>T	CA400617697	SCN4A	c.3710T>A (p.Leu1237His)
17	g.63945371G>A	CA400617698	SCN4A	c.3709C>T (p.Leu1237Phe)
17	g.63945371G>C	CA400617699	SCN4A	c.3709C>G (p.Leu1237Val)	dbSNP
17	g.63945371G=	CA2270162480	SCN4A	c.3709C= (p.Leu1237=)
17	g.63945371G>T	CA400617700	SCN4A	c.3709C>A (p.Leu1237Ile)
17	g.63945372G>A	CA501348579	SCN4A	c.3708C>T (p.Ser1236=)
17	g.63945372G>C	CA501348577	SCN4A	c.3708C>G (p.Ser1236=)
17	g.63945372G>T	CA501348578	SCN4A	c.3708C>A (p.Ser1236=)
17	g.63945373G>A	CA8709206	SCN4A	c.3707C>T (p.Ser1236Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945373G>C	CA400617701	SCN4A	c.3707C>G (p.Ser1236Cys)
17	g.63945373G=	CA2270162482	SCN4A	c.3707C= (p.Ser1236=)
17	g.63945373G>T	CA400617702	SCN4A	c.3707C>A (p.Ser1236Tyr)
17	g.63945374A>C	CA400617703	SCN4A	c.3706T>G (p.Ser1236Ala)
17	g.63945374A>G	CA400617704	SCN4A	c.3706T>C (p.Ser1236Pro)
17	g.63945374A>T	CA400617705	SCN4A	c.3706T>A (p.Ser1236Thr)
17	g.63945375G>A	CA501348581	SCN4A	c.3705C>T (p.Leu1235=)
17	g.63945375G>C	CA501348582	SCN4A	c.3705C>G (p.Leu1235=)
17	g.63945375G>T	CA501348583	SCN4A	c.3705C>A (p.Leu1235=)
17	g.63945376A>C	CA400617707	SCN4A	c.3704T>G (p.Leu1235Arg)	COSMIC
17	g.63945376A>G	CA400617708	SCN4A	c.3704T>C (p.Leu1235Pro)	gnomAD v4
17	g.63945376A>T	CA400617706	SCN4A	c.3704T>A (p.Leu1235His)	gnomAD v4
17	g.63945377G>A	CA400617709	SCN4A	c.3703C>T (p.Leu1235Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63945377G>C	CA400617710	SCN4A	c.3703C>G (p.Leu1235Val)
17	g.63945377G=	CA2270162486	SCN4A	c.3703C= (p.Leu1235=)
17	g.63945377G>T	CA400617711	SCN4A	c.3703C>A (p.Leu1235Ile)	dbSNP
17	g.63945378del	CA2639311805	SCN4A	c.3703del (p.Leu1235SerfsTer?)	gnomAD v4
17	g.63945378G>A	CA501348585	SCN4A	c.3702C>T (p.Tyr1234=)
17	g.63945378G>C	CA400617712	SCN4A	c.3702C>G (p.Tyr1234Ter)
17	g.63945378G>T	CA400617713	SCN4A	c.3702C>A (p.Tyr1234Ter)
17	g.63945379T>A	CA400617716	SCN4A	c.3701A>T (p.Tyr1234Phe)	dbSNP
17	g.63945379T>C	CA400617714	SCN4A	c.3701A>G (p.Tyr1234Cys)
17	g.63945379T>G	CA400617715	SCN4A	c.3701A>C (p.Tyr1234Ser)
17	g.63945379T=	CA2270162490	SCN4A	c.3701A= (p.Tyr1234=)
17	g.63945380A>C	CA400617717	SCN4A	c.3700T>G (p.Tyr1234Asp)
17	g.63945380A>G	CA400617718	SCN4A	c.3700T>C (p.Tyr1234His)
17	g.63945380A>T	CA400617719	SCN4A	c.3700T>A (p.Tyr1234Asn)
17	g.63945381G>A	CA501348590	SCN4A	c.3699C>T (p.Gly1233=)
17	g.63945381G>C	CA501348592	SCN4A	c.3699C>G (p.Gly1233=)	ClinVar
17	g.63945381G>T	CA501348593	SCN4A	c.3699C>A (p.Gly1233=)
17	g.63945382C>A	CA400617720	SCN4A	c.3698G>T (p.Gly1233Val)	gnomAD v4
17	g.63945382C>G	CA400617721	SCN4A	c.3698G>C (p.Gly1233Ala)
17	g.63945382C>T	CA400617722	SCN4A	c.3698G>A (p.Gly1233Asp)
17	g.63945383C>A	CA400617724	SCN4A	c.3697G>T (p.Gly1233Cys)	COSMIC
17	g.63945383C>G	CA400617725	SCN4A	c.3697G>C (p.Gly1233Arg)
17	g.63945383C>T	CA400617723	SCN4A	c.3697G>A (p.Gly1233Ser)
17	g.63945384C>A	CA501348595	SCN4A	c.3696G>T (p.Leu1232=)
17	g.63945384C>G	CA501348597	SCN4A	c.3696G>C (p.Leu1232=)
17	g.63945384C>T	CA501348599	SCN4A	c.3696G>A (p.Leu1232=)	ClinVar dbSNP
17	g.63945385A>C	CA400617726	SCN4A	c.3695T>G (p.Leu1232Arg)
17	g.63945385A>G	CA400617727	SCN4A	c.3695T>C (p.Leu1232Pro)
17	g.63945385A>T	CA400617728	SCN4A	c.3695T>A (p.Leu1232Gln)
17	g.63945386G>A	CA501348602	SCN4A	c.3694C>T (p.Leu1232=)	gnomAD v4
17	g.63945386G>C	CA400617729	SCN4A	c.3694C>G (p.Leu1232Val)
17	g.63945386G>T	CA400617730	SCN4A	c.3694C>A (p.Leu1232Met)
17	g.63945387A>C	CA501348604	SCN4A	c.3693T>G (p.Gly1231=)
17	g.63945387A>G	CA501348606	SCN4A	c.3693T>C (p.Gly1231=)	gnomAD v4
17	g.63945387A>T	CA501348603	SCN4A	c.3693T>A (p.Gly1231=)
17	g.63945388C>A	CA400617733	SCN4A	c.3692G>T (p.Gly1231Val)
17	g.63945388C=	CA2270162492	SCN4A	c.3692G= (p.Gly1231=)
17	g.63945388C>G	CA400617732	SCN4A	c.3692G>C (p.Gly1231Ala)
17	g.63945388C>T	CA400617731	SCN4A	c.3692G>A (p.Gly1231Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.63945389C>A	CA400617734	SCN4A	c.3691G>T (p.Gly1231Cys)
17	g.63945389C>G	CA400617735	SCN4A	c.3691G>C (p.Gly1231Arg)
17	g.63945389C>T	CA400617736	SCN4A	c.3691G>A (p.Gly1231Ser)
17	g.63945390C>A	CA501348607	SCN4A	c.3690G>T (p.Val1230=)
17	g.63945390C>G	CA501348608	SCN4A	c.3690G>C (p.Val1230=)
17	g.63945390C>T	CA501348609	SCN4A	c.3690G>A (p.Val1230=)
17	g.63945391A=	CA2270162496	SCN4A	c.3689T= (p.Val1230=)
17	g.63945391A>C	CA400617737	SCN4A	c.3689T>G (p.Val1230Gly)
17	g.63945391A>G	CA400617738	SCN4A	c.3689T>C (p.Val1230Ala)	dbSNP
17	g.63945391A>T	CA400617739	SCN4A	c.3689T>A (p.Val1230Glu)
17	g.63945392C>A	CA400617741	SCN4A	c.3688G>T (p.Val1230Leu)
17	g.63945392C=	CA2270162501	SCN4A	c.3688G= (p.Val1230=)
17	g.63945392C>G	CA400617740	SCN4A	c.3688G>C (p.Val1230Leu)
17	g.63945392C>T	CA8709207	SCN4A	c.3688G>A (p.Val1230Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945393G>A	CA501348610	SCN4A	c.3687C>T (p.Asn1229=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63945393G>C	CA400617742	SCN4A	c.3687C>G (p.Asn1229Lys)
17	g.63945393G=	CA2270162505	SCN4A	c.3687C= (p.Asn1229=)
17	g.63945393G>T	CA400617743	SCN4A	c.3687C>A (p.Asn1229Lys)
17	g.63945394T>A	CA400617744	SCN4A	c.3686A>T (p.Asn1229Ile)
17	g.63945394T>C	CA292961573	SCN4A	c.3686A>G (p.Asn1229Ser)	ClinVar dbSNP
17	g.63945394T>G	CA400617745	SCN4A	c.3686A>C (p.Asn1229Thr)
17	g.63945394T=	CA2270162507	SCN4A	c.3686A= (p.Asn1229=)
17	g.63945395T>A	CA400617746	SCN4A	c.3685A>T (p.Asn1229Tyr)
17	g.63945395T>C	CA8709208	SCN4A	c.3685A>G (p.Asn1229Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945395T>G	CA400617747	SCN4A	c.3685A>C (p.Asn1229His)
17	g.63945395T=	CA2270162510	SCN4A	c.3685A= (p.Asn1229=)
17	g.63945396G>A	CA501348612	SCN4A	c.3684C>T (p.Asp1228=)
17	g.63945396G>C	CA400617748	SCN4A	c.3684C>G (p.Asp1228Glu)
17	g.63945396G>T	CA400617749	SCN4A	c.3684C>A (p.Asp1228Glu)
17	g.63945397T>A	CA400617750	SCN4A	c.3683A>T (p.Asp1228Val)
17	g.63945397T>C	CA400617751	SCN4A	c.3683A>G (p.Asp1228Gly)	gnomAD v4
17	g.63945397T>G	CA400617752	SCN4A	c.3683A>C (p.Asp1228Ala)
17	g.63945398C>A	CA400617754	SCN4A	c.3682G>T (p.Asp1228Tyr)
17	g.63945398C=	CA2270162513	SCN4A	c.3682G= (p.Asp1228=)
17	g.63945398C>G	CA400617753	SCN4A	c.3682G>C (p.Asp1228His)
17	g.63945398C>T	CA8709209	SCN4A	c.3682G>A (p.Asp1228Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945399del	CA2639311853	SCN4A	c.3681del (p.Tyr1227Ter)	gnomAD v4
17	g.63945399G>A	CA8709210	SCN4A	c.3681C>T (p.Tyr1227=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945399G>C	CA400617755	SCN4A	c.3681C>G (p.Tyr1227Ter)
17	g.63945399G=	CA2270162520	SCN4A	c.3681C= (p.Tyr1227=)
17	g.63945399G>T	CA400617756	SCN4A	c.3681C>A (p.Tyr1227Ter)
17	g.63945400T>A	CA400617757	SCN4A	c.3680A>T (p.Tyr1227Phe)
17	g.63945400T>C	CA400617758	SCN4A	c.3680A>G (p.Tyr1227Cys)
17	g.63945400T>G	CA400617759	SCN4A	c.3680A>C (p.Tyr1227Ser)
17	g.63945401A=	CA2270162525	SCN4A	c.3679T= (p.Tyr1227=)
17	g.63945401A>C	CA400617762	SCN4A	c.3679T>G (p.Tyr1227Asp)	ClinVar
17	g.63945401A>G	CA400617760	SCN4A	c.3679T>C (p.Tyr1227His)	ClinVar dbSNP gnomAD v4
17	g.63945401A>T	CA400617761	SCN4A	c.3679T>A (p.Tyr1227Asn)
17	g.63945402G>A	CA501348617	SCN4A	c.3678C>T (p.Asn1226=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945402G>C	CA400617763	SCN4A	c.3678C>G (p.Asn1226Lys)
17	g.63945402G=	CA2270162529	SCN4A	c.3678C= (p.Asn1226=)
17	g.63945402G>T	CA400617764	SCN4A	c.3678C>A (p.Asn1226Lys)
17	g.63945403T>A	CA400617765	SCN4A	c.3677A>T (p.Asn1226Ile)
17	g.63945403T>C	CA400617766	SCN4A	c.3677A>G (p.Asn1226Ser)	gnomAD v4
17	g.63945403T>G	CA400617767	SCN4A	c.3677A>C (p.Asn1226Thr)
17	g.63945404T>A	CA400617770	SCN4A	c.3676A>T (p.Asn1226Tyr)
17	g.63945404T>C	CA400617768	SCN4A	c.3676A>G (p.Asn1226Asp)
17	g.63945404T>G	CA400617769	SCN4A	c.3676A>C (p.Asn1226His)
17	g.63945405G>A	CA501348618	SCN4A	c.3675C>T (p.Val1225=)
17	g.63945405G>C	CA501348620	SCN4A	c.3675C>G (p.Val1225=)
17	g.63945405G>T	CA501348619	SCN4A	c.3675C>A (p.Val1225=)	gnomAD v4
17	g.63945406A>C	CA400617771	SCN4A	c.3674T>G (p.Val1225Gly)	gnomAD v4
17	g.63945406A>G	CA400617772	SCN4A	c.3674T>C (p.Val1225Ala)
17	g.63945406A>T	CA400617773	SCN4A	c.3674T>A (p.Val1225Asp)
17	g.63945407C>A	CA400617774	SCN4A	c.3673G>T (p.Val1225Phe)
17	g.63945407C>G	CA400617775	SCN4A	c.3673G>C (p.Val1225Leu)
17	g.63945407C>T	CA400617776	SCN4A	c.3673G>A (p.Val1225Ile)
17	g.63945408C>A	CA400617777	SCN4A	c.3672G>T (p.Lys1224Asn)	dbSNP gnomAD v3 gnomAD v4
17	g.63945408C=	CA2270162532	SCN4A	c.3672G= (p.Lys1224=)
17	g.63945408C>G	CA400617778	SCN4A	c.3672G>C (p.Lys1224Asn)
17	g.63945408C>T	CA8709211	SCN4A	c.3672G>A (p.Lys1224=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945409T>A	CA400617779	SCN4A	c.3671A>T (p.Lys1224Met)
17	g.63945409T>C	CA400617780	SCN4A	c.3671A>G (p.Lys1224Arg)
17	g.63945409T>G	CA400617781	SCN4A	c.3671A>C (p.Lys1224Thr)
17	g.63945410T>A	CA400617784	SCN4A	c.3670A>T (p.Lys1224Ter)
17	g.63945410T>C	CA400617782	SCN4A	c.3670A>G (p.Lys1224Glu)
17	g.63945410T>G	CA400617783	SCN4A	c.3670A>C (p.Lys1224Gln)	gnomAD v4
17	g.63945411G>A	CA501348621	SCN4A	c.3669C>T (p.Val1223=)
17	g.63945411G>C	CA501348622	SCN4A	c.3669C>G (p.Val1223=)
17	g.63945411G>T	CA501348623	SCN4A	c.3669C>A (p.Val1223=)
17	g.63945412A>C	CA400617785	SCN4A	c.3668T>G (p.Val1223Gly)
17	g.63945412A>G	CA400617787	SCN4A	c.3668T>C (p.Val1223Ala)
17	g.63945412A>T	CA400617786	SCN4A	c.3668T>A (p.Val1223Asp)
17	g.63945413C>A	CA400617788	SCN4A	c.3667G>T (p.Val1223Phe)
17	g.63945413C=	CA2270162535	SCN4A	c.3667G= (p.Val1223=)
17	g.63945413C>G	CA400617789	SCN4A	c.3667G>C (p.Val1223Leu)
17	g.63945413C>T	CA8709212	SCN4A	c.3667G>A (p.Val1223Ile)	dbSNP ExAC gnomAD v2
17	g.63945414A>C	CA400617790	SCN4A	c.3666T>G (p.Asn1222Lys)	gnomAD v4
17	g.63945414A>G	CA501348624	SCN4A	c.3666T>C (p.Asn1222=)
17	g.63945414A>T	CA400617791	SCN4A	c.3666T>A (p.Asn1222Lys)
17	g.63945415T>A	CA400617792	SCN4A	c.3665A>T (p.Asn1222Ile)
17	g.63945415T>C	CA400617793	SCN4A	c.3665A>G (p.Asn1222Ser)
17	g.63945415T>G	CA400617794	SCN4A	c.3665A>C (p.Asn1222Thr)
17	g.63945416dup	CA2576355620	SCN4A	c.3665dup (p.Asn1222LysfsTer?)
17	g.63945416T>A	CA400617795	SCN4A	c.3664A>T (p.Asn1222Tyr)
17	g.63945416T>C	CA400617796	SCN4A	c.3664A>G (p.Asn1222Asp)
17	g.63945416T>G	CA400617797	SCN4A	c.3664A>C (p.Asn1222His)	dbSNP gnomAD v3 gnomAD v4
17	g.63945416T=	CA2270162537	SCN4A	c.3664A= (p.Asn1222=)
17	g.63945417G>A	CA501348625	SCN4A	c.3663C>T (p.Leu1221=)
17	g.63945417G>C	CA501348626	SCN4A	c.3663C>G (p.Leu1221=)	gnomAD v4
17	g.63945417G>T	CA501348627	SCN4A	c.3663C>A (p.Leu1221=)
17	g.63945418A=	CA2270162543	SCN4A	c.3662T= (p.Leu1221=)
17	g.63945418A>C	CA400617800	SCN4A	c.3662T>G (p.Leu1221Arg)	dbSNP
17	g.63945418A>G	CA400617799	SCN4A	c.3662T>C (p.Leu1221Pro)
17	g.63945418A>T	CA400617798	SCN4A	c.3662T>A (p.Leu1221His)
17	g.63945419G>A	CA400617801	SCN4A	c.3661C>T (p.Leu1221Phe)
17	g.63945419G>C	CA400617802	SCN4A	c.3661C>G (p.Leu1221Val)
17	g.63945419G>T	CA400617803	SCN4A	c.3661C>A (p.Leu1221Ile)
17	g.63945420C>A	CA400617804	SCN4A	c.3660G>T (p.Trp1220Cys)
17	g.63945420C=	CA2270162545	SCN4A	c.3660G= (p.Trp1220=)
17	g.63945420C>G	CA400617805	SCN4A	c.3660G>C (p.Trp1220Cys)
17	g.63945420C>T	CA400617806	SCN4A	c.3660G>A (p.Trp1220Ter)	dbSNP
17	g.63945421C>A	CA400617807	SCN4A	c.3659G>T (p.Trp1220Leu)
17	g.63945421C>G	CA400617808	SCN4A	c.3659G>C (p.Trp1220Ser)
17	g.63945421C>T	CA400617809	SCN4A	c.3659G>A (p.Trp1220Ter)
17	g.63945422A>C	CA400617810	SCN4A	c.3658T>G (p.Trp1220Gly)
17	g.63945422A>G	CA400617811	SCN4A	c.3658T>C (p.Trp1220Arg)
17	g.63945422A>T	CA400617812	SCN4A	c.3658T>A (p.Trp1220Arg)
17	g.63945423G>A	CA501348628	SCN4A	c.3657C>T (p.Arg1219=)	ClinVar dbSNP gnomAD v4
17	g.63945423G>C	CA501348629	SCN4A	c.3657C>G (p.Arg1219=)	gnomAD v4
17	g.63945423G=	CA2270162548	SCN4A	c.3657C= (p.Arg1219=)
17	g.63945423G>T	CA501348630	SCN4A	c.3657C>A (p.Arg1219=)
17	g.63945424C>A	CA400617815	SCN4A	c.3656G>T (p.Arg1219Leu)
17	g.63945424C=	CA2270162552	SCN4A	c.3656G= (p.Arg1219=)
17	g.63945424C>G	CA400617814	SCN4A	c.3656G>C (p.Arg1219Pro)
17	g.63945424C>T	CA400617813	SCN4A	c.3656G>A (p.Arg1219His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63945425G>A	CA8709213	SCN4A	c.3655C>T (p.Arg1219Cys)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63945425G>C	CA400617816	SCN4A	c.3655C>G (p.Arg1219Gly)
17	g.63945425G=	CA2270162555	SCN4A	c.3655C= (p.Arg1219=)
17	g.63945425G>T	CA400617817	SCN4A	c.3655C>A (p.Arg1219Ser)
17	g.63945426G>A	CA501348631	SCN4A	c.3654C>T (p.Val1218=)
17	g.63945426G>C	CA501348632	SCN4A	c.3654C>G (p.Val1218=)
17	g.63945426G>T	CA501348633	SCN4A	c.3654C>A (p.Val1218=)
17	g.63945427A>C	CA400617818	SCN4A	c.3653T>G (p.Val1218Gly)
17	g.63945427A>G	CA400617819	SCN4A	c.3653T>C (p.Val1218Ala)
17	g.63945427A>T	CA400617820	SCN4A	c.3653T>A (p.Val1218Asp)
17	g.63945428C>A	CA8709214	SCN4A	c.3652G>T (p.Val1218Phe)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63945428C=	CA2270162557	SCN4A	c.3652G= (p.Val1218=)
17	g.63945428C>G	CA400617821	SCN4A	c.3652G>C (p.Val1218Leu)
17	g.63945428C>T	CA400617822	SCN4A	c.3652G>A (p.Val1218Ile)
17	g.63945429C>A	CA400617823	SCN4A	c.3651G>T (p.Gln1217His)
17	g.63945429C=	CA2270162559	SCN4A	c.3651G= (p.Gln1217=)
17	g.63945429C>G	CA400617824	SCN4A	c.3651G>C (p.Gln1217His)	dbSNP gnomAD v2
17	g.63945429C>T	CA501348634	SCN4A	c.3651G>A (p.Gln1217=)	gnomAD v4
17	g.63945430T>A	CA400617825	SCN4A	c.3650A>T (p.Gln1217Leu)
17	g.63945430T>C	CA400617826	SCN4A	c.3650A>G (p.Gln1217Arg)
17	g.63945430T>G	CA400617827	SCN4A	c.3650A>C (p.Gln1217Pro)
17	g.63945431G>A	CA400617828	SCN4A	c.3649C>T (p.Gln1217Ter)
17	g.63945431G>C	CA292961610	SCN4A	c.3649C>G (p.Gln1217Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.63945431G=	CA2270162561	SCN4A	c.3649C= (p.Gln1217=)
17	g.63945431G>T	CA8709215	SCN4A	c.3649C>A (p.Gln1217Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945432G>A	CA501348635	SCN4A	c.3648C>T (p.Gly1216=)	dbSNP gnomAD v2 gnomAD v4
17	g.63945432G>C	CA501348636	SCN4A	c.3648C>G (p.Gly1216=)	gnomAD v4
17	g.63945432G=	CA2270162565	SCN4A	c.3648C= (p.Gly1216=)
17	g.63945432G>T	CA501348637	SCN4A	c.3648C>A (p.Gly1216=)
17	g.63945433C>A	CA400617829	SCN4A	c.3647G>T (p.Gly1216Val)
17	g.63945433C>G	CA400617830	SCN4A	c.3647G>C (p.Gly1216Ala)
17	g.63945433C>T	CA400617831	SCN4A	c.3647G>A (p.Gly1216Asp)
17	g.63945434C>A	CA400617832	SCN4A	c.3646G>T (p.Gly1216Cys)
17	g.63945434C>G	CA400617833	SCN4A	c.3646G>C (p.Gly1216Arg)
17	g.63945434C>T	CA400617834	SCN4A	c.3646G>A (p.Gly1216Ser)
17	g.63945435T>A	CA501348638	SCN4A	c.3645A>T (p.Thr1215=)
17	g.63945435T>C	CA501348639	SCN4A	c.3645A>G (p.Thr1215=)
17	g.63945435T>G	CA501348640	SCN4A	c.3645A>C (p.Thr1215=)	gnomAD v4
17	g.63945436G>A	CA400617835	SCN4A	c.3644C>T (p.Thr1215Ile)
17	g.63945436G>C	CA400617836	SCN4A	c.3644C>G (p.Thr1215Arg)
17	g.63945436G>T	CA400617837	SCN4A	c.3644C>A (p.Thr1215Lys)
17	g.63945437T>A	CA400617838	SCN4A	c.3643A>T (p.Thr1215Ser)
17	g.63945437T>C	CA400617839	SCN4A	c.3643A>G (p.Thr1215Ala)
17	g.63945437T>G	CA400617840	SCN4A	c.3643A>C (p.Thr1215Pro)
17	g.63945438G>A	CA8709216	SCN4A	c.3642C>T (p.His1214=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945438G>C	CA400617842	SCN4A	c.3642C>G (p.His1214Gln)
17	g.63945438G=	CA2270162567	SCN4A	c.3642C= (p.His1214=)
17	g.63945438G>T	CA400617841	SCN4A	c.3642C>A (p.His1214Gln)
17	g.63945439T>A	CA400617843	SCN4A	c.3641A>T (p.His1214Leu)
17	g.63945439T>C	CA400617845	SCN4A	c.3641A>G (p.His1214Arg)
17	g.63945439T>G	CA400617844	SCN4A	c.3641A>C (p.His1214Pro)
17	g.63945440G>A	CA400617846	SCN4A	c.3640C>T (p.His1214Tyr)	gnomAD v4
17	g.63945440G>C	CA400617847	SCN4A	c.3640C>G (p.His1214Asp)
17	g.63945440G=	CA2270162569	SCN4A	c.3640C= (p.His1214=)
17	g.63945440G>T	CA400617848	SCN4A	c.3640C>A (p.His1214Asn)	dbSNP gnomAD v4
17	g.63945441C>A	CA400617849	SCN4A	c.3639G>T (p.Met1213Ile)
17	g.63945441C=	CA2270162572	SCN4A	c.3639G= (p.Met1213=)
17	g.63945441C>G	CA400617850	SCN4A	c.3639G>C (p.Met1213Ile)
17	g.63945441C>T	CA400617851	SCN4A	c.3639G>A (p.Met1213Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63945442A=	CA2270162575	SCN4A	c.3638T= (p.Met1213=)
17	g.63945442A>C	CA400617853	SCN4A	c.3638T>G (p.Met1213Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63945442A>G	CA400617852	SCN4A	c.3638T>C (p.Met1213Thr)	gnomAD v4
17	g.63945442A>T	CA8709217	SCN4A	c.3638T>A (p.Met1213Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945443T>A	CA400617854	SCN4A	c.3637A>T (p.Met1213Leu)
17	g.63945443T>C	CA400617855	SCN4A	c.3637A>G (p.Met1213Val)
17	g.63945443T>G	CA400617856	SCN4A	c.3637A>C (p.Met1213Leu)
17	g.63945444G>A	CA501348641	SCN4A	c.3636C>T (p.Leu1212=)	dbSNP gnomAD v3 gnomAD v4
17	g.63945444G>C	CA501348642	SCN4A	c.3636C>G (p.Leu1212=)
17	g.63945444G=	CA2270162577	SCN4A	c.3636C= (p.Leu1212=)
17	g.63945444G>T	CA501348643	SCN4A	c.3636C>A (p.Leu1212=)
17	g.63945445A>C	CA400617857	SCN4A	c.3635T>G (p.Leu1212Arg)
17	g.63945445A>G	CA400617858	SCN4A	c.3635T>C (p.Leu1212Pro)
17	g.63945445A>T	CA400617859	SCN4A	c.3635T>A (p.Leu1212His)
17	g.63945446G>A	CA400617860	SCN4A	c.3634C>T (p.Leu1212Phe)	gnomAD v4
17	g.63945446G>C	CA400617862	SCN4A	c.3634C>G (p.Leu1212Val)
17	g.63945446G>T	CA400617861	SCN4A	c.3634C>A (p.Leu1212Ile)
17	g.63945447G>A	CA501348644	SCN4A	c.3633C>T (p.Ser1211=)	gnomAD v4
17	g.63945447G>C	CA400617863	SCN4A	c.3633C>G (p.Ser1211Arg)	gnomAD v4
17	g.63945447G=	CA2270162578	SCN4A	c.3633C= (p.Ser1211=)
17	g.63945447G>T	CA292961636	SCN4A	c.3633C>A (p.Ser1211Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945448C>A	CA400617864	SCN4A	c.3632G>T (p.Ser1211Ile)
17	g.63945448C>G	CA400617865	SCN4A	c.3632G>C (p.Ser1211Thr)	gnomAD v4
17	g.63945448C>T	CA400617866	SCN4A	c.3632G>A (p.Ser1211Asn)
17	g.63945449T>A	CA400617867	SCN4A	c.3631A>T (p.Ser1211Cys)
17	g.63945449T>C	CA400617868	SCN4A	c.3631A>G (p.Ser1211Gly)
17	g.63945449T>G	CA400617869	SCN4A	c.3631A>C (p.Ser1211Arg)
17	g.63945450C>A	CA400617870	SCN4A	c.3630G>T (p.Glu1210Asp)
17	g.63945450C=	CA2270162579	SCN4A	c.3630G= (p.Glu1210=)
17	g.63945450C>G	CA400617871	SCN4A	c.3630G>C (p.Glu1210Asp)	gnomAD v4
17	g.63945450C>T	CA8709218	SCN4A	c.3630G>A (p.Glu1210=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945451T>A	CA400617872	SCN4A	c.3629A>T (p.Glu1210Val)
17	g.63945451T>C	CA8709219	SCN4A	c.3629A>G (p.Glu1210Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945451T>G	CA400617873	SCN4A	c.3629A>C (p.Glu1210Ala)
17	g.63945451T=	CA2270162581	SCN4A	c.3629A= (p.Glu1210=)
17	g.63945452C>A	CA400617874	SCN4A	c.3628G>T (p.Glu1210Ter)	dbSNP
17	g.63945452C=	CA2270162584	SCN4A	c.3628G= (p.Glu1210=)
17	g.63945452C>G	CA400617875	SCN4A	c.3628G>C (p.Glu1210Gln)
17	g.63945452C>T	CA8709220	SCN4A	c.3628G>A (p.Glu1210Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945453G>A	CA8709221	SCN4A	c.3627C>T (p.Cys1209=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945453G>C	CA400617876	SCN4A	c.3627C>G (p.Cys1209Trp)	gnomAD v4
17	g.63945453G=	CA2270162587	SCN4A	c.3627C= (p.Cys1209=)
17	g.63945453G>T	CA400617877	SCN4A	c.3627C>A (p.Cys1209Ter)	dbSNP
17	g.63945454C>A	CA400617878	SCN4A	c.3626G>T (p.Cys1209Phe)	ClinVar
17	g.63945454C>G	CA400617879	SCN4A	c.3626G>C (p.Cys1209Ser)
17	g.63945454C>T	CA400617880	SCN4A	c.3626G>A (p.Cys1209Tyr)	gnomAD v4
17	g.63945455A=	CA2270162591	SCN4A	c.3625T= (p.Cys1209=)
17	g.63945455A>C	CA400617881	SCN4A	c.3625T>G (p.Cys1209Gly)	ClinVar
17	g.63945455A>G	CA400617882	SCN4A	c.3625T>C (p.Cys1209Arg)	ClinVar dbSNP
17	g.63945455A>T	CA400617883	SCN4A	c.3625T>A (p.Cys1209Ser)
17	g.63945456C>A	CA400617885	SCN4A	c.3624G>T (p.Glu1208Asp)
17	g.63945456C=	CA2270162593	SCN4A	c.3624G= (p.Glu1208=)
17	g.63945456C>G	CA400617884	SCN4A	c.3624G>C (p.Glu1208Asp)	ClinVar gnomAD v4
17	g.63945456C>T	CA501348645	SCN4A	c.3624G>A (p.Glu1208=)	dbSNP gnomAD v2 gnomAD v4
17	g.63945457T>A	CA400617886	SCN4A	c.3623A>T (p.Glu1208Val)
17	g.63945457T>C	CA400617887	SCN4A	c.3623A>G (p.Glu1208Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.63945457T>G	CA400617888	SCN4A	c.3623A>C (p.Glu1208Ala)
17	g.63945457T=	CA2270162595	SCN4A	c.3623A= (p.Glu1208=)
17	g.63945458C>A	CA400617889	SCN4A	c.3622G>T (p.Glu1208Ter)	dbSNP
17	g.63945458C=	CA2270162600	SCN4A	c.3622G= (p.Glu1208=)
17	g.63945458C>G	CA8709222	SCN4A	c.3622G>C (p.Glu1208Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945458C>T	CA400617890	SCN4A	c.3622G>A (p.Glu1208Lys)	COSMIC
17	g.63945459A>C	CA501348646	SCN4A	c.3621T>G (p.Ser1207=)
17	g.63945459A>G	CA501348647	SCN4A	c.3621T>C (p.Ser1207=)
17	g.63945459A>T	CA501348648	SCN4A	c.3621T>A (p.Ser1207=)	gnomAD v4
17	g.63945460G>A	CA400617891	SCN4A	c.3620C>T (p.Ser1207Phe)
17	g.63945460G>C	CA400617892	SCN4A	c.3620C>G (p.Ser1207Cys)
17	g.63945460G>T	CA400617893	SCN4A	c.3620C>A (p.Ser1207Tyr)
17	g.63945461A>C	CA400617894	SCN4A	c.3619T>G (p.Ser1207Ala)	gnomAD v3 gnomAD v4
17	g.63945461A>G	CA400617895	SCN4A	c.3619T>C (p.Ser1207Pro)
17	g.63945461A>T	CA400617896	SCN4A	c.3619T>A (p.Ser1207Thr)
17	g.63945462C>A	CA400617898	SCN4A	c.3618G>T (p.Lys1206Asn)
17	g.63945462C=	CA2270162607	SCN4A	c.3618G= (p.Lys1206=)
17	g.63945462C>G	CA400617897	SCN4A	c.3618G>C (p.Lys1206Asn)
17	g.63945462C>T	CA8709224	SCN4A	c.3618G>A (p.Lys1206=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945462_63945465delinsCTTG	CA2270162605	SCN4A	c.3615_3618delinsCAAG (p.Asn1205=)
17	g.63945463T>A	CA400617899	SCN4A	c.3617A>T (p.Lys1206Met)
17	g.63945463T>C	CA400617900	SCN4A	c.3617A>G (p.Lys1206Arg)	gnomAD v4
17	g.63945463T>G	CA400617901	SCN4A	c.3617A>C (p.Lys1206Thr)
17	g.63945469_63945471del	CA8709223	SCN4A	c.3615_3617del (p.Asn1205del)	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched