Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63945472A=	CA2270162618	SCN4A	c.3608T= (p.Val1203=)
17	g.63945472A>C	CA400617921	SCN4A	c.3608T>G (p.Val1203Gly)	gnomAD v4
17	g.63945472A>G	CA292961654	SCN4A	c.3608T>C (p.Val1203Ala)	dbSNP gnomAD v2 gnomAD v4
17	g.63945472A>T	CA400617922	SCN4A	c.3608T>A (p.Val1203Asp)	gnomAD v4 COSMIC
17	g.63945472_63945473delinsAC	CA2270162619	SCN4A	c.3607_3608delinsGT (p.Val1203=)
17	g.63945473C>A	CA400617923	SCN4A	c.3607G>T (p.Val1203Phe)
17	g.63945473C>G	CA400617924	SCN4A	c.3607G>C (p.Val1203Leu)
17	g.63945473C>T	CA400617925	SCN4A	c.3607G>A (p.Val1203Ile)
17	g.63945474del	CA627150332	SCN4A	c.3607del (p.Val1203SerfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63945474C>A	CA400617926	SCN4A	c.3606G>T (p.Glu1202Asp)
17	g.63945474C>G	CA400617927	SCN4A	c.3606G>C (p.Glu1202Asp)
17	g.63945474C>T	CA501348654	SCN4A	c.3606G>A (p.Glu1202=)	gnomAD v4
17	g.63945475T>A	CA400617928	SCN4A	c.3605A>T (p.Glu1202Val)
17	g.63945475T>C	CA400617929	SCN4A	c.3605A>G (p.Glu1202Gly)
17	g.63945475T>G	CA400617930	SCN4A	c.3605A>C (p.Glu1202Ala)
17	g.63945476C>A	CA400617931	SCN4A	c.3604G>T (p.Glu1202Ter)	dbSNP gnomAD v4
17	g.63945476C=	CA2270162624	SCN4A	c.3604G= (p.Glu1202=)
17	g.63945476C>G	CA400617932	SCN4A	c.3604G>C (p.Glu1202Gln)	gnomAD v4
17	g.63945476C>T	CA155075	SCN4A	c.3604G>A (p.Glu1202Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945477G>A	CA8709226	SCN4A	c.3603C>T (p.Ser1201=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945477G>C	CA501348655	SCN4A	c.3603C>G (p.Ser1201=)	gnomAD v4
17	g.63945477G=	CA2270162626	SCN4A	c.3603C= (p.Ser1201=)
17	g.63945477G>T	CA8709225	SCN4A	c.3603C>A (p.Ser1201=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945478_63945480del	CA2639312067	SCN4A	c.3601_3603del (p.Ser1201del)	gnomAD v4
17	g.63945478G>A	CA400617933	SCN4A	c.3602C>T (p.Ser1201Phe)
17	g.63945478G>C	CA400617934	SCN4A	c.3602C>G (p.Ser1201Cys)
17	g.63945478G>T	CA400617935	SCN4A	c.3602C>A (p.Ser1201Tyr)
17	g.63945479A>C	CA400617936	SCN4A	c.3601T>G (p.Ser1201Ala)	gnomAD v4
17	g.63945479A>G	CA400617937	SCN4A	c.3601T>C (p.Ser1201Pro)
17	g.63945479A>T	CA400617938	SCN4A	c.3601T>A (p.Ser1201Thr)
17	g.63945480G>A	CA501348656	SCN4A	c.3600C>T (p.Ile1200=)
17	g.63945480G>C	CA400617939	SCN4A	c.3600C>G (p.Ile1200Met)	dbSNP gnomAD v4 COSMIC
17	g.63945480G=	CA2270162629	SCN4A	c.3600C= (p.Ile1200=)
17	g.63945480G>T	CA501348657	SCN4A	c.3600C>A (p.Ile1200=)
17	g.63945481A>C	CA400617940	SCN4A	c.3599T>G (p.Ile1200Ser)
17	g.63945481A>G	CA400617941	SCN4A	c.3599T>C (p.Ile1200Thr)
17	g.63945481A>T	CA400617942	SCN4A	c.3599T>A (p.Ile1200Asn)	gnomAD v4
17	g.63945482T>A	CA400617943	SCN4A	c.3598A>T (p.Ile1200Phe)
17	g.63945482T>C	CA292961666	SCN4A	c.3598A>G (p.Ile1200Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63945482T>G	CA400617944	SCN4A	c.3598A>C (p.Ile1200Leu)
17	g.63945482T=	CA2270162631	SCN4A	c.3598A= (p.Ile1200=)
17	g.63945483G>A	CA501348660	SCN4A	c.3597C>T (p.Asp1199=)	dbSNP gnomAD v2 gnomAD v4
17	g.63945483G>C	CA400617945	SCN4A	c.3597C>G (p.Asp1199Glu)
17	g.63945483G=	CA2270162632	SCN4A	c.3597C= (p.Asp1199=)
17	g.63945483G>T	CA400617946	SCN4A	c.3597C>A (p.Asp1199Glu)
17	g.63945484T>A	CA400617947	SCN4A	c.3596A>T (p.Asp1199Val)
17	g.63945484T>C	CA400617948	SCN4A	c.3596A>G (p.Asp1199Gly)
17	g.63945484T>G	CA400617949	SCN4A	c.3596A>C (p.Asp1199Ala)
17	g.63945485C>A	CA400617950	SCN4A	c.3595G>T (p.Asp1199Tyr)
17	g.63945485C=	CA2270162635	SCN4A	c.3595G= (p.Asp1199=)
17	g.63945485C>G	CA400617951	SCN4A	c.3595G>C (p.Asp1199His)	dbSNP gnomAD v4
17	g.63945485C>T	CA8709227	SCN4A	c.3595G>A (p.Asp1199Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945486G>A	CA292961673	SCN4A	c.3594C>T (p.Phe1198=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945486G>C	CA8709228	SCN4A	c.3594C>G (p.Phe1198Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945486G=	CA2270162637	SCN4A	c.3594C= (p.Phe1198=)
17	g.63945486G>T	CA400617952	SCN4A	c.3594C>A (p.Phe1198Leu)
17	g.63945487A>C	CA400617953	SCN4A	c.3593T>G (p.Phe1198Cys)
17	g.63945487A>G	CA400617955	SCN4A	c.3593T>C (p.Phe1198Ser)
17	g.63945487A>T	CA400617954	SCN4A	c.3593T>A (p.Phe1198Tyr)
17	g.63945488dup	CA2576355621	SCN4A	c.3593dup (p.Asp1199ArgfsTer10)	gnomAD v4
17	g.63945488A=	CA2270162639	SCN4A	c.3592T= (p.Phe1198=)
17	g.63945488A>C	CA400617956	SCN4A	c.3592T>G (p.Phe1198Val)
17	g.63945488A>G	CA400617958	SCN4A	c.3592T>C (p.Phe1198Leu)
17	g.63945488A>T	CA400617957	SCN4A	c.3592T>A (p.Phe1198Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.63945489C>A	CA400617959	SCN4A	c.3591G>T (p.Arg1197Ser)
17	g.63945489C>G	CA400617960	SCN4A	c.3591G>C (p.Arg1197Ser)
17	g.63945489C>T	CA501348661	SCN4A	c.3591G>A (p.Arg1197=)	ClinVar
17	g.63945490C>A	CA400617961	SCN4A	c.3590G>T (p.Arg1197Met)
17	g.63945490C>G	CA400617962	SCN4A	c.3590G>C (p.Arg1197Thr)
17	g.63945490C>T	CA400617963	SCN4A	c.3590G>A (p.Arg1197Lys)
17	g.63945491T>A	CA400617964	SCN4A	c.3589A>T (p.Arg1197Trp)
17	g.63945491T>C	CA400617965	SCN4A	c.3589A>G (p.Arg1197Gly)
17	g.63945491T>G	CA501348662	SCN4A	c.3589A>C (p.Arg1197=)
17	g.63945492C>A	CA400617966	SCN4A	c.3588G>T (p.Glu1196Asp)
17	g.63945492C>G	CA400617967	SCN4A	c.3588G>C (p.Glu1196Asp)
17	g.63945492C>T	CA501348663	SCN4A	c.3588G>A (p.Glu1196=)
17	g.63945493T>A	CA400617968	SCN4A	c.3587A>T (p.Glu1196Val)
17	g.63945493T>C	CA400617969	SCN4A	c.3587A>G (p.Glu1196Gly)
17	g.63945493T>G	CA400617970	SCN4A	c.3587A>C (p.Glu1196Ala)
17	g.63945494C>A	CA400617971	SCN4A	c.3586G>T (p.Glu1196Ter)	dbSNP gnomAD v4
17	g.63945494C=	CA2270162640	SCN4A	c.3586G= (p.Glu1196=)
17	g.63945494C>G	CA400617972	SCN4A	c.3586G>C (p.Glu1196Gln)
17	g.63945494C>T	CA8709229	SCN4A	c.3586G>A (p.Glu1196Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945495A=	CA2270162642	SCN4A	c.3585T= (p.Ser1195=)
17	g.63945495A>C	CA8709230	SCN4A	c.3585T>G (p.Ser1195=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945495A>G	CA501348665	SCN4A	c.3585T>C (p.Ser1195=)
17	g.63945495A>T	CA501348664	SCN4A	c.3585T>A (p.Ser1195=)
17	g.63945496G>A	CA400617973	SCN4A	c.3584C>T (p.Ser1195Phe)
17	g.63945496G>C	CA8709231	SCN4A	c.3584C>G (p.Ser1195Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945496G=	CA2270162644	SCN4A	c.3584C= (p.Ser1195=)
17	g.63945496G>T	CA400617974	SCN4A	c.3584C>A (p.Ser1195Tyr)
17	g.63945497A>C	CA400617975	SCN4A	c.3583T>G (p.Ser1195Ala)
17	g.63945497A>G	CA400617976	SCN4A	c.3583T>C (p.Ser1195Pro)
17	g.63945497A>T	CA400617977	SCN4A	c.3583T>A (p.Ser1195Thr)	COSMIC
17	g.63945498G>A	CA8709232	SCN4A	c.3582C>T (p.Thr1194=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945498G>C	CA501348666	SCN4A	c.3582C>G (p.Thr1194=)
17	g.63945498G=	CA2270162645	SCN4A	c.3582C= (p.Thr1194=)
17	g.63945498G>T	CA501348667	SCN4A	c.3582C>A (p.Thr1194=)
17	g.63945499G>A	CA400617978	SCN4A	c.3581C>T (p.Thr1194Ile)
17	g.63945499G>C	CA400617979	SCN4A	c.3581C>G (p.Thr1194Ser)
17	g.63945499G>T	CA400617980	SCN4A	c.3581C>A (p.Thr1194Asn)
17	g.63945500T>A	CA400617981	SCN4A	c.3580A>T (p.Thr1194Ser)
17	g.63945500T>C	CA400617982	SCN4A	c.3580A>G (p.Thr1194Ala)
17	g.63945500T>G	CA400617983	SCN4A	c.3580A>C (p.Thr1194Pro)
17	g.63945501G>A	CA501348668	SCN4A	c.3579C>T (p.Thr1193=)	COSMIC
17	g.63945501G>C	CA501348669	SCN4A	c.3579C>G (p.Thr1193=)
17	g.63945501G>T	CA501348670	SCN4A	c.3579C>A (p.Thr1193=)
17	g.63945502G>A	CA292961693	SCN4A	c.3578C>T (p.Thr1193Ile)	dbSNP COSMIC
17	g.63945502G>C	CA400617985	SCN4A	c.3578C>G (p.Thr1193Ser)
17	g.63945502G=	CA2270162647	SCN4A	c.3578C= (p.Thr1193=)
17	g.63945502G>T	CA400617984	SCN4A	c.3578C>A (p.Thr1193Asn)
17	g.63945503T>A	CA400617986	SCN4A	c.3577A>T (p.Thr1193Ser)
17	g.63945503T>C	CA400617987	SCN4A	c.3577A>G (p.Thr1193Ala)
17	g.63945503T>G	CA400617988	SCN4A	c.3577A>C (p.Thr1193Pro)
17	g.63945504G>A	CA501348671	SCN4A	c.3576C>T (p.Thr1192=)	ClinVar dbSNP gnomAD v4
17	g.63945504G>C	CA501348672	SCN4A	c.3576C>G (p.Thr1192=)
17	g.63945504G=	CA2270162649	SCN4A	c.3576C= (p.Thr1192=)
17	g.63945504G>T	CA501348673	SCN4A	c.3576C>A (p.Thr1192=)
17	g.63945505G>A	CA400617991	SCN4A	c.3575C>T (p.Thr1192Ile)
17	g.63945505G>C	CA400617993	SCN4A	c.3575C>G (p.Thr1192Ser)
17	g.63945505G>T	CA400617995	SCN4A	c.3575C>A (p.Thr1192Asn)
17	g.63945506T>A	CA400617998	SCN4A	c.3574A>T (p.Thr1192Ser)
17	g.63945506T>C	CA400617999	SCN4A	c.3574A>G (p.Thr1192Ala)
17	g.63945506T>G	CA400618001	SCN4A	c.3574A>C (p.Thr1192Pro)	COSMIC
17	g.63945507G>A	CA501348674	SCN4A	c.3573C>T (p.Asn1191=)	gnomAD v4
17	g.63945507G>C	CA400618003	SCN4A	c.3573C>G (p.Asn1191Lys)
17	g.63945507G>T	CA400618004	SCN4A	c.3573C>A (p.Asn1191Lys)
17	g.63945508T>A	CA400618010	SCN4A	c.3572A>T (p.Asn1191Ile)
17	g.63945508T>C	CA400618009	SCN4A	c.3572A>G (p.Asn1191Ser)
17	g.63945508T>G	CA400618007	SCN4A	c.3572A>C (p.Asn1191Thr)
17	g.63945509T>A	CA400618011	SCN4A	c.3571A>T (p.Asn1191Tyr)
17	g.63945509T>C	CA400618012	SCN4A	c.3571A>G (p.Asn1191Asp)
17	g.63945509T>G	CA400618014	SCN4A	c.3571A>C (p.Asn1191His)
17	g.63945510G>A	CA501348675	SCN4A	c.3570C>T (p.Ile1190=)
17	g.63945510G>C	CA400618016	SCN4A	c.3570C>G (p.Ile1190Met)
17	g.63945510G>T	CA501348676	SCN4A	c.3570C>A (p.Ile1190=)
17	g.63945511A>C	CA400618018	SCN4A	c.3569T>G (p.Ile1190Ser)
17	g.63945511A>G	CA400618020	SCN4A	c.3569T>C (p.Ile1190Thr)
17	g.63945511A>T	CA400618022	SCN4A	c.3569T>A (p.Ile1190Asn)
17	g.63945512T>A	CA400618024	SCN4A	c.3568A>T (p.Ile1190Phe)	dbSNP
17	g.63945512T>C	CA400618025	SCN4A	c.3568A>G (p.Ile1190Val)
17	g.63945512T>G	CA400618027	SCN4A	c.3568A>C (p.Ile1190Leu)
17	g.63945512T=	CA2270162651	SCN4A	c.3568A= (p.Ile1190=)
17	g.63945513G>A	CA501348677	SCN4A	c.3567C>T (p.Cys1189=)
17	g.63945513G>C	CA400618030	SCN4A	c.3567C>G (p.Cys1189Trp)
17	g.63945513G=	CA2270162653	SCN4A	c.3567C= (p.Cys1189=)
17	g.63945513G>T	CA400618032	SCN4A	c.3567C>A (p.Cys1189Ter)	dbSNP
17	g.63945514C>A	CA400618038	SCN4A	c.3566G>T (p.Cys1189Phe)
17	g.63945514C>G	CA400618037	SCN4A	c.3566G>C (p.Cys1189Ser)
17	g.63945514C>T	CA400618035	SCN4A	c.3566G>A (p.Cys1189Tyr)
17	g.63945515A>C	CA400618044	SCN4A	c.3565T>G (p.Cys1189Gly)
17	g.63945515A>G	CA400618042	SCN4A	c.3565T>C (p.Cys1189Arg)
17	g.63945515A>T	CA400618046	SCN4A	c.3565T>A (p.Cys1189Ser)
17	g.63945516G>A	CA8709233	SCN4A	c.3564C>T (p.Tyr1188=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945516G>C	CA400618049	SCN4A	c.3564C>G (p.Tyr1188Ter)
17	g.63945516G=	CA2270162655	SCN4A	c.3564C= (p.Tyr1188=)
17	g.63945516G>T	CA400618051	SCN4A	c.3564C>A (p.Tyr1188Ter)
17	g.63945517T>A	CA400618055	SCN4A	c.3563A>T (p.Tyr1188Phe)
17	g.63945517T>C	CA400618057	SCN4A	c.3563A>G (p.Tyr1188Cys)
17	g.63945517T>G	CA400618058	SCN4A	c.3563A>C (p.Tyr1188Ser)
17	g.63945518A=	CA2270162657	SCN4A	c.3562T= (p.Tyr1188=)
17	g.63945518A>C	CA400618066	SCN4A	c.3562T>G (p.Tyr1188Asp)
17	g.63945518A>G	CA8709234	SCN4A	c.3562T>C (p.Tyr1188His)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17	g.63945518A>T	CA400618064	SCN4A	c.3562T>A (p.Tyr1188Asn)
17	g.63945519G>A	CA501348678	SCN4A	c.3561C>T (p.Tyr1187=)
17	g.63945519G>C	CA400618069	SCN4A	c.3561C>G (p.Tyr1187Ter)
17	g.63945519G>T	CA400618071	SCN4A	c.3561C>A (p.Tyr1187Ter)
17	g.63945520T>A	CA400618074	SCN4A	c.3560A>T (p.Tyr1187Phe)
17	g.63945520T>C	CA400618075	SCN4A	c.3560A>G (p.Tyr1187Cys)	gnomAD v4
17	g.63945520T>G	CA400618077	SCN4A	c.3560A>C (p.Tyr1187Ser)
17	g.63945521A>C	CA400618080	SCN4A	c.3559T>G (p.Tyr1187Asp)
17	g.63945521A>G	CA400618083	SCN4A	c.3559T>C (p.Tyr1187His)
17	g.63945521A>T	CA400618082	SCN4A	c.3559T>A (p.Tyr1187Asn)
17	g.63945522G>A	CA501348679	SCN4A	c.3558C>T (p.Phe1186=)
17	g.63945522G>C	CA400618084	SCN4A	c.3558C>G (p.Phe1186Leu)
17	g.63945522G=	CA2270162659	SCN4A	c.3558C= (p.Phe1186=)
17	g.63945522G>T	CA8709235	SCN4A	c.3558C>A (p.Phe1186Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945523A>C	CA400618088	SCN4A	c.3557T>G (p.Phe1186Cys)
17	g.63945523A>G	CA400618091	SCN4A	c.3557T>C (p.Phe1186Ser)
17	g.63945523A>T	CA400618093	SCN4A	c.3557T>A (p.Phe1186Tyr)
17	g.63945524A>C	CA400618096	SCN4A	c.3556T>G (p.Phe1186Val)
17	g.63945524A>G	CA400618097	SCN4A	c.3556T>C (p.Phe1186Leu)	COSMIC
17	g.63945524A>T	CA400618099	SCN4A	c.3556T>A (p.Phe1186Ile)
17	g.63945525C>A	CA400618101	SCN4A	c.3555G>T (p.Lys1185Asn)
17	g.63945525C>G	CA400618104	SCN4A	c.3555G>C (p.Lys1185Asn)
17	g.63945525C>T	CA501348680	SCN4A	c.3555G>A (p.Lys1185=)	gnomAD v4
17	g.63945526T>A	CA400618111	SCN4A	c.3554A>T (p.Lys1185Met)
17	g.63945526T>C	CA400618109	SCN4A	c.3554A>G (p.Lys1185Arg)
17	g.63945526T>G	CA400618106	SCN4A	c.3554A>C (p.Lys1185Thr)
17	g.63945527T>A	CA400618115	SCN4A	c.3553A>T (p.Lys1185Ter)	dbSNP
17	g.63945527T>C	CA400618116	SCN4A	c.3553A>G (p.Lys1185Glu)
17	g.63945527T>G	CA400618119	SCN4A	c.3553A>C (p.Lys1185Gln)
17	g.63945527T=	CA2270162661	SCN4A	c.3553A= (p.Lys1185=)
17	g.63945528G>A	CA501348681	SCN4A	c.3552C>T (p.Gly1184=)
17	g.63945528G>C	CA501348682	SCN4A	c.3552C>G (p.Gly1184=)
17	g.63945528G>T	CA501348683	SCN4A	c.3552C>A (p.Gly1184=)
17	g.63945529C>A	CA400618122	SCN4A	c.3551G>T (p.Gly1184Val)
17	g.63945529C>G	CA400618124	SCN4A	c.3551G>C (p.Gly1184Ala)
17	g.63945529C>T	CA400618126	SCN4A	c.3551G>A (p.Gly1184Asp)
17	g.63945530C>A	CA400618129	SCN4A	c.3550G>T (p.Gly1184Cys)
17	g.63945530C=	CA2270162663	SCN4A	c.3550G= (p.Gly1184=)
17	g.63945530C>G	CA400618131	SCN4A	c.3550G>C (p.Gly1184Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.63945530C>T	CA8709236	SCN4A	c.3550G>A (p.Gly1184Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945531G>A	CA8709237	SCN4A	c.3549C>T (p.Ala1183=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945531G>C	CA501348684	SCN4A	c.3549C>G (p.Ala1183=)
17	g.63945531G=	CA2270162665	SCN4A	c.3549C= (p.Ala1183=)
17	g.63945531G>T	CA501348685	SCN4A	c.3549C>A (p.Ala1183=)	COSMIC
17	g.63945532G>A	CA400618137	SCN4A	c.3548C>T (p.Ala1183Val)	COSMIC
17	g.63945532G>C	CA400618139	SCN4A	c.3548C>G (p.Ala1183Gly)
17	g.63945532G>T	CA400618141	SCN4A	c.3548C>A (p.Ala1183Asp)
17	g.63945533C>A	CA400618148	SCN4A	c.3547G>T (p.Ala1183Ser)
17	g.63945533C>G	CA400618143	SCN4A	c.3547G>C (p.Ala1183Pro)
17	g.63945533C>T	CA400618145	SCN4A	c.3547G>A (p.Ala1183Thr)
17	g.63945534A=	CA2270162667	SCN4A	c.3546T= (p.Phe1182=)
17	g.63945534A>C	CA400618151	SCN4A	c.3546T>G (p.Phe1182Leu)
17	g.63945534A>G	CA8709238	SCN4A	c.3546T>C (p.Phe1182=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945534A>T	CA400618153	SCN4A	c.3546T>A (p.Phe1182Leu)
17	g.63945535A=	CA2270162668	SCN4A	c.3545T= (p.Phe1182=)
17	g.63945535A>C	CA292961704	SCN4A	c.3545T>G (p.Phe1182Cys)	dbSNP
17	g.63945535A>G	CA400618155	SCN4A	c.3545T>C (p.Phe1182Ser)
17	g.63945535A>T	CA400618157	SCN4A	c.3545T>A (p.Phe1182Tyr)
17	g.63945536A>C	CA400618159	SCN4A	c.3544T>G (p.Phe1182Val)
17	g.63945536A>G	CA400618161	SCN4A	c.3544T>C (p.Phe1182Leu)
17	g.63945536A>T	CA400618164	SCN4A	c.3544T>A (p.Phe1182Ile)
17	g.63945537C>A	CA501348686	SCN4A	c.3543G>T (p.Leu1181=)
17	g.63945537C>G	CA501348687	SCN4A	c.3543G>C (p.Leu1181=)
17	g.63945537C>T	CA501348688	SCN4A	c.3543G>A (p.Leu1181=)
17	g.63945538A>C	CA400618167	SCN4A	c.3542T>G (p.Leu1181Arg)
17	g.63945538A>G	CA400618169	SCN4A	c.3542T>C (p.Leu1181Pro)
17	g.63945538A>T	CA400618170	SCN4A	c.3542T>A (p.Leu1181Gln)
17	g.63945539G>A	CA8709240	SCN4A	c.3541C>T (p.Leu1181=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945539G>C	CA400618175	SCN4A	c.3541C>G (p.Leu1181Val)
17	g.63945539G=	CA2270162670	SCN4A	c.3541C= (p.Leu1181=)
17	g.63945539G>T	CA8709239	SCN4A	c.3541C>A (p.Leu1181Met)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945540G>A	CA501348689	SCN4A	c.3540C>T (p.Asn1180=)
17	g.63945540G>C	CA400618178	SCN4A	c.3540C>G (p.Asn1180Lys)
17	g.63945540G=	CA2270162672	SCN4A	c.3540C= (p.Asn1180=)
17	g.63945540G>T	CA400618180	SCN4A	c.3540C>A (p.Asn1180Lys)	dbSNP gnomAD v4
17	g.63945541T>A	CA400618183	SCN4A	c.3539A>T (p.Asn1180Ile)	ClinVar dbSNP
17	g.63945541T>C	CA400618184	SCN4A	c.3539A>G (p.Asn1180Ser)	ClinVar dbSNP gnomAD v4
17	g.63945541T>G	CA400618185	SCN4A	c.3539A>C (p.Asn1180Thr)
17	g.63945541T=	CA2270162674	SCN4A	c.3539A= (p.Asn1180=)
17	g.63945542T>A	CA400618188	SCN4A	c.3538A>T (p.Asn1180Tyr)
17	g.63945542T>C	CA400618187	SCN4A	c.3538A>G (p.Asn1180Asp)
17	g.63945542T>G	CA400618186	SCN4A	c.3538A>C (p.Asn1180His)
17	g.63945543G>A	CA501348690	SCN4A	c.3537C>T (p.Val1179=)
17	g.63945543G>C	CA501348691	SCN4A	c.3537C>G (p.Val1179=)
17	g.63945543G>T	CA501348692	SCN4A	c.3537C>A (p.Val1179=)
17	g.63945544A=	CA2270162676	SCN4A	c.3536T= (p.Val1179=)
17	g.63945544A>C	CA400618190	SCN4A	c.3536T>G (p.Val1179Gly)
17	g.63945544A>G	CA400618192	SCN4A	c.3536T>C (p.Val1179Ala)	dbSNP
17	g.63945544A>T	CA400618194	SCN4A	c.3536T>A (p.Val1179Asp)
17	g.63945545C>A	CA400618197	SCN4A	c.3535G>T (p.Val1179Phe)
17	g.63945545C=	CA2270162678	SCN4A	c.3535G= (p.Val1179=)
17	g.63945545C>G	CA400618199	SCN4A	c.3535G>C (p.Val1179Leu)
17	g.63945545C>T	CA400618201	SCN4A	c.3535G>A (p.Val1179Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63945545_63945546insT	CA2596764799	SCN4A	c.3534_3535insA (p.Val1179SerfsTer18)	gnomAD v3 gnomAD v4
17	g.63945546A>C	CA501348695	SCN4A	c.3534T>G (p.Gly1178=)
17	g.63945546A>G	CA501348694	SCN4A	c.3534T>C (p.Gly1178=)
17	g.63945546A>T	CA501348693	SCN4A	c.3534T>A (p.Gly1178=)
17	g.63945547C>A	CA400618208	SCN4A	c.3533G>T (p.Gly1178Val)
17	g.63945547C=	CA2270162680	SCN4A	c.3533G= (p.Gly1178=)
17	g.63945547C>G	CA400618204	SCN4A	c.3533G>C (p.Gly1178Ala)	dbSNP gnomAD v3 gnomAD v4
17	g.63945547C>T	CA400618205	SCN4A	c.3533G>A (p.Gly1178Asp)	gnomAD v4
17	g.63945548C>A	CA400618211	SCN4A	c.3532G>T (p.Gly1178Cys)
17	g.63945548C>G	CA400618213	SCN4A	c.3532G>C (p.Gly1178Arg)
17	g.63945548C>T	CA400618215	SCN4A	c.3532G>A (p.Gly1178Ser)
17	g.63945549C>A	CA400618217	SCN4A	c.3531G>T (p.Met1177Ile)
17	g.63945549C>G	CA400618219	SCN4A	c.3531G>C (p.Met1177Ile)	gnomAD v4
17	g.63945549C>T	CA400618221	SCN4A	c.3531G>A (p.Met1177Ile)
17	g.63945550A>C	CA400618224	SCN4A	c.3530T>G (p.Met1177Arg)
17	g.63945550A>G	CA400618227	SCN4A	c.3530T>C (p.Met1177Thr)
17	g.63945550A>T	CA400618230	SCN4A	c.3530T>A (p.Met1177Lys)
17	g.63945551T>A	CA400618234	SCN4A	c.3529A>T (p.Met1177Leu)
17	g.63945551T>C	CA8709241	SCN4A	c.3529A>G (p.Met1177Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945551T>G	CA400618239	SCN4A	c.3529A>C (p.Met1177Leu)
17	g.63945551T=	CA2270162681	SCN4A	c.3529A= (p.Met1177=)
17	g.63945552G>A	CA501348696	SCN4A	c.3528C>T (p.Ile1176=)	gnomAD v4
17	g.63945552G>C	CA400618242	SCN4A	c.3528C>G (p.Ile1176Met)
17	g.63945552G>T	CA501348697	SCN4A	c.3528C>A (p.Ile1176=)
17	g.63945553A>C	CA400618245	SCN4A	c.3527T>G (p.Ile1176Ser)
17	g.63945553A>G	CA400618243	SCN4A	c.3527T>C (p.Ile1176Thr)	gnomAD v4
17	g.63945553A>T	CA400618244	SCN4A	c.3527T>A (p.Ile1176Asn)
17	g.63945554T>A	CA400618247	SCN4A	c.3526A>T (p.Ile1176Phe)
17	g.63945554T>C	CA400618249	SCN4A	c.3526A>G (p.Ile1176Val)	dbSNP
17	g.63945554T>G	CA400618250	SCN4A	c.3526A>C (p.Ile1176Leu)
17	g.63945554T=	CA2270162683	SCN4A	c.3526A= (p.Ile1176=)
17	g.63945555G>A	CA8709242	SCN4A	c.3525C>T (p.Ser1175=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945555G>C	CA400618258	SCN4A	c.3525C>G (p.Ser1175Arg)
17	g.63945555G=	CA2270162685	SCN4A	c.3525C= (p.Ser1175=)
17	g.63945555G>T	CA400618261	SCN4A	c.3525C>A (p.Ser1175Arg)
17	g.63945556C>A	CA400618271	SCN4A	c.3524G>T (p.Ser1175Ile)
17	g.63945556C=	CA2270162687	SCN4A	c.3524G= (p.Ser1175=)
17	g.63945556C>G	CA8709243	SCN4A	c.3524G>C (p.Ser1175Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945556C>T	CA400618269	SCN4A	c.3524G>A (p.Ser1175Asn)	dbSNP gnomAD v3 gnomAD v4
17	g.63945557T>A	CA400618277	SCN4A	c.3523A>T (p.Ser1175Cys)
17	g.63945557T>C	CA400618279	SCN4A	c.3523A>G (p.Ser1175Gly)	gnomAD v4
17	g.63945557T>G	CA400618282	SCN4A	c.3523A>C (p.Ser1175Arg)
17	g.63945558G>A	CA501348700	SCN4A	c.3522C>T (p.Phe1174=)
17	g.63945558G>C	CA400618298	SCN4A	c.3522C>G (p.Phe1174Leu)
17	g.63945558G>T	CA400618302	SCN4A	c.3522C>A (p.Phe1174Leu)
17	g.63945559A>C	CA400618312	SCN4A	c.3521T>G (p.Phe1174Cys)
17	g.63945559A>G	CA400618307	SCN4A	c.3521T>C (p.Phe1174Ser)
17	g.63945559A>T	CA400618309	SCN4A	c.3521T>A (p.Phe1174Tyr)
17	g.63945560A=	CA2270162689	SCN4A	c.3520T= (p.Phe1174=)
17	g.63945560A>C	CA400618317	SCN4A	c.3520T>G (p.Phe1174Val)
17	g.63945560A>G	CA400618329	SCN4A	c.3520T>C (p.Phe1174Leu)
17	g.63945560A>T	CA400618332	SCN4A	c.3520T>A (p.Phe1174Ile)	dbSNP gnomAD v2
17	g.63945561G>A	CA501348702	SCN4A	c.3519C>T (p.Ile1173=)	gnomAD v4
17	g.63945561G>C	CA400618334	SCN4A	c.3519C>G (p.Ile1173Met)
17	g.63945561G=	CA2270162691	SCN4A	c.3519C= (p.Ile1173=)
17	g.63945561G>T	CA8709244	SCN4A	c.3519C>A (p.Ile1173=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945562A>C	CA400618338	SCN4A	c.3518T>G (p.Ile1173Ser)
17	g.63945562A>G	CA400618341	SCN4A	c.3518T>C (p.Ile1173Thr)	gnomAD v4
17	g.63945562A>T	CA400618344	SCN4A	c.3518T>A (p.Ile1173Asn)
17	g.63945563T>A	CA400618349	SCN4A	c.3517A>T (p.Ile1173Phe)
17	g.63945563T>C	CA400618352	SCN4A	c.3517A>G (p.Ile1173Val)
17	g.63945563T>G	CA400618354	SCN4A	c.3517A>C (p.Ile1173Leu)
17	g.63945564C>A	CA501218995	SCN4A	c.3516G>T (p.Leu1172=)	dbSNP gnomAD v4 COSMIC
17	g.63945564C=	CA2270162693	SCN4A	c.3516G= (p.Leu1172=)
17	g.63945564C>G	CA501218998	SCN4A	c.3516G>C (p.Leu1172=)	gnomAD v4
17	g.63945564C>T	CA8709245	SCN4A	c.3516G>A (p.Leu1172=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945565A>C	CA400618363	SCN4A	c.3515T>G (p.Leu1172Arg)
17	g.63945565A>G	CA400618371	SCN4A	c.3515T>C (p.Leu1172Pro)
17	g.63945565A>T	CA400618366	SCN4A	c.3515T>A (p.Leu1172Gln)
17	g.63945566G>A	CA501219006	SCN4A	c.3514C>T (p.Leu1172=)
17	g.63945566G>C	CA400618375	SCN4A	c.3514C>G (p.Leu1172Val)
17	g.63945566G=	CA2270162695	SCN4A	c.3514C= (p.Leu1172=)
17	g.63945566G>T	CA400618377	SCN4A	c.3514C>A (p.Leu1172Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63945567C>A	CA400618383	SCN4A	c.3513G>T (p.Trp1171Cys)
17	g.63945567C=	CA2270162697	SCN4A	c.3513G= (p.Trp1171=)
17	g.63945567C>G	CA400618385	SCN4A	c.3513G>C (p.Trp1171Cys)
17	g.63945567C>T	CA400618388	SCN4A	c.3513G>A (p.Trp1171Ter)	dbSNP
17	g.63945568C>A	CA400618393	SCN4A	c.3512G>T (p.Trp1171Leu)
17	g.63945568C>G	CA400618396	SCN4A	c.3512G>C (p.Trp1171Ser)
17	g.63945568C>T	CA400618399	SCN4A	c.3512G>A (p.Trp1171Ter)
17	g.63945569A>C	CA400618404	SCN4A	c.3511T>G (p.Trp1171Gly)
17	g.63945569A>G	CA400618407	SCN4A	c.3511T>C (p.Trp1171Arg)
17	g.63945569A>T	CA400618411	SCN4A	c.3511T>A (p.Trp1171Arg)
17	g.63945572_63945574del	CA2639312279	SCN4A	c.3509_3511del (p.Phe1170del)	gnomAD v4
17	g.63945570G>A	CA8709246	SCN4A	c.3510C>T (p.Phe1170=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63945570G>C	CA400618419	SCN4A	c.3510C>G (p.Phe1170Leu)
17	g.63945570G=	CA2270162698	SCN4A	c.3510C= (p.Phe1170=)
17	g.63945570G>T	CA400618422	SCN4A	c.3510C>A (p.Phe1170Leu)
17	g.63945571A>C	CA400618431	SCN4A	c.3509T>G (p.Phe1170Cys)
17	g.63945571A>G	CA400618427	SCN4A	c.3509T>C (p.Phe1170Ser)
17	g.63945571A>T	CA400618428	SCN4A	c.3509T>A (p.Phe1170Tyr)
17	g.63945572A=	CA2270162700	SCN4A	c.3508T= (p.Phe1170=)
17	g.63945572A>C	CA400618436	SCN4A	c.3508T>G (p.Phe1170Val)
17	g.63945572A>G	CA400618438	SCN4A	c.3508T>C (p.Phe1170Leu)
17	g.63945572A>T	CA400618442	SCN4A	c.3508T>A (p.Phe1170Ile)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched