Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63941475C>A	CA400614929	SCN4A	c.4807G>T (p.Val1603Leu)
17	g.63941475C>G	CA400614930	SCN4A	c.4807G>C (p.Val1603Leu)
17	g.63941475C>T	CA400614931	SCN4A	c.4807G>A (p.Val1603Met)	gnomAD v4
17	g.63941476A=	CA2270160957	SCN4A	c.4806T= (p.Asn1602=)
17	g.63941476A>C	CA400614932	SCN4A	c.4806T>G (p.Asn1602Lys)
17	g.63941476A>G	CA501347984	SCN4A	c.4806T>C (p.Asn1602=)	dbSNP gnomAD v4
17	g.63941476A>T	CA400614933	SCN4A	c.4806T>A (p.Asn1602Lys)
17	g.63941477T>A	CA400614934	SCN4A	c.4805A>T (p.Asn1602Ile)
17	g.63941477T>C	CA8708900	SCN4A	c.4805A>G (p.Asn1602Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941477T>G	CA400614935	SCN4A	c.4805A>C (p.Asn1602Thr)
17	g.63941477T=	CA2270160958	SCN4A	c.4805A= (p.Asn1602=)
17	g.63941478T>A	CA400614936	SCN4A	c.4804A>T (p.Asn1602Tyr)
17	g.63941478T>C	CA400614937	SCN4A	c.4804A>G (p.Asn1602Asp)
17	g.63941478T>G	CA400614938	SCN4A	c.4804A>C (p.Asn1602His)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941478T=	CA2270160959	SCN4A	c.4804A= (p.Asn1602=)
17	g.63941479G>A	CA501347987	SCN4A	c.4803C>T (p.Phe1601=)
17	g.63941479G>C	CA400614939	SCN4A	c.4803C>G (p.Phe1601Leu)
17	g.63941479G>T	CA400614940	SCN4A	c.4803C>A (p.Phe1601Leu)
17	g.63941480A>C	CA400614941	SCN4A	c.4802T>G (p.Phe1601Cys)
17	g.63941480A>G	CA400614942	SCN4A	c.4802T>C (p.Phe1601Ser)
17	g.63941480A>T	CA400614943	SCN4A	c.4802T>A (p.Phe1601Tyr)
17	g.63941481A>C	CA400614944	SCN4A	c.4801T>G (p.Phe1601Val)
17	g.63941481A>G	CA400614945	SCN4A	c.4801T>C (p.Phe1601Leu)
17	g.63941481A>T	CA400614946	SCN4A	c.4801T>A (p.Phe1601Ile)
17	g.63941482G>A	CA501348001	SCN4A	c.4800C>T (p.Asn1600=)
17	g.63941482G>C	CA400614948	SCN4A	c.4800C>G (p.Asn1600Lys)
17	g.63941482G>T	CA400614947	SCN4A	c.4800C>A (p.Asn1600Lys)	COSMIC
17	g.63941483T>A	CA400614949	SCN4A	c.4799A>T (p.Asn1600Ile)
17	g.63941483T>C	CA400614950	SCN4A	c.4799A>G (p.Asn1600Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.63941483T>G	CA400614951	SCN4A	c.4799A>C (p.Asn1600Thr)
17	g.63941483T=	CA2270160960	SCN4A	c.4799A= (p.Asn1600=)
17	g.63941484T>A	CA400614952	SCN4A	c.4798A>T (p.Asn1600Tyr)
17	g.63941484T>C	CA400614953	SCN4A	c.4798A>G (p.Asn1600Asp)	gnomAD v4 COSMIC
17	g.63941484T>G	CA400614954	SCN4A	c.4798A>C (p.Asn1600His)
17	g.63941485C>A	CA400614956	SCN4A	c.4797G>T (p.Glu1599Asp)
17	g.63941485C>G	CA400614955	SCN4A	c.4797G>C (p.Glu1599Asp)
17	g.63941485C>T	CA501348009	SCN4A	c.4797G>A (p.Glu1599=)
17	g.63941486T>A	CA400614957	SCN4A	c.4796A>T (p.Glu1599Val)
17	g.63941486T>C	CA400614958	SCN4A	c.4796A>G (p.Glu1599Gly)
17	g.63941486T>G	CA400614959	SCN4A	c.4796A>C (p.Glu1599Ala)
17	g.63941487C>A	CA400614960	SCN4A	c.4795G>T (p.Glu1599Ter)	dbSNP
17	g.63941487C=	CA2270160961	SCN4A	c.4795G= (p.Glu1599=)
17	g.63941487C>G	CA400614961	SCN4A	c.4795G>C (p.Glu1599Gln)
17	g.63941487C>T	CA400614962	SCN4A	c.4795G>A (p.Glu1599Lys)
17	g.63941488C>A	CA501348017	SCN4A	c.4794G>T (p.Leu1598=)
17	g.63941488C=	CA2270160962	SCN4A	c.4794G= (p.Leu1598=)
17	g.63941488C>G	CA501348018	SCN4A	c.4794G>C (p.Leu1598=)
17	g.63941488C>T	CA501348019	SCN4A	c.4794G>A (p.Leu1598=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941489A>C	CA400614963	SCN4A	c.4793T>G (p.Leu1598Arg)
17	g.63941489A>G	CA400614965	SCN4A	c.4793T>C (p.Leu1598Pro)
17	g.63941489A>T	CA400614964	SCN4A	c.4793T>A (p.Leu1598Gln)
17	g.63941490G>A	CA501348021	SCN4A	c.4792C>T (p.Leu1598=)
17	g.63941490G>C	CA400614966	SCN4A	c.4792C>G (p.Leu1598Val)
17	g.63941490G>T	CA400614967	SCN4A	c.4792C>A (p.Leu1598Met)	gnomAD v4
17	g.63941491G>A	CA501348023	SCN4A	c.4791C>T (p.Ile1597=)
17	g.63941491G>C	CA400614968	SCN4A	c.4791C>G (p.Ile1597Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941491G=	CA2270160963	SCN4A	c.4791C= (p.Ile1597=)
17	g.63941491G>T	CA501348025	SCN4A	c.4791C>A (p.Ile1597=)
17	g.63941492A>C	CA400614969	SCN4A	c.4790T>G (p.Ile1597Ser)
17	g.63941492A>G	CA400614970	SCN4A	c.4790T>C (p.Ile1597Thr)
17	g.63941492A>T	CA400614971	SCN4A	c.4790T>A (p.Ile1597Asn)	gnomAD v4
17	g.63941493T>A	CA400614972	SCN4A	c.4789A>T (p.Ile1597Phe)
17	g.63941493T>C	CA400614973	SCN4A	c.4789A>G (p.Ile1597Val)
17	g.63941493T>G	CA400614974	SCN4A	c.4789A>C (p.Ile1597Leu)
17	g.63941494G>A	CA501348032	SCN4A	c.4788C>T (p.Ile1596=)	COSMIC
17	g.63941494G>C	CA400614975	SCN4A	c.4788C>G (p.Ile1596Met)
17	g.63941494G>T	CA501348034	SCN4A	c.4788C>A (p.Ile1596=)
17	g.63941495A>C	CA400614976	SCN4A	c.4787T>G (p.Ile1596Ser)
17	g.63941495A>G	CA400614977	SCN4A	c.4787T>C (p.Ile1596Thr)
17	g.63941495A>T	CA400614978	SCN4A	c.4787T>A (p.Ile1596Asn)
17	g.63941496T>A	CA400614979	SCN4A	c.4786A>T (p.Ile1596Phe)
17	g.63941496T>C	CA400614980	SCN4A	c.4786A>G (p.Ile1596Val)
17	g.63941496T>G	CA400614981	SCN4A	c.4786A>C (p.Ile1596Leu)	dbSNP
17	g.63941496T=	CA2270160964	SCN4A	c.4786A= (p.Ile1596=)
17	g.63941497G>A	CA501348036	SCN4A	c.4785C>T (p.Ala1595=)
17	g.63941497G>C	CA501348037	SCN4A	c.4785C>G (p.Ala1595=)
17	g.63941497G>T	CA501348038	SCN4A	c.4785C>A (p.Ala1595=)
17	g.63941498G>A	CA400614982	SCN4A	c.4784C>T (p.Ala1595Val)	ClinVar dbSNP gnomAD v4
17	g.63941498G>C	CA400614984	SCN4A	c.4784C>G (p.Ala1595Gly)
17	g.63941498G=	CA2270160965	SCN4A	c.4784C= (p.Ala1595=)
17	g.63941498G>T	CA400614983	SCN4A	c.4784C>A (p.Ala1595Asp)
17	g.63941499C>A	CA400614985	SCN4A	c.4783G>T (p.Ala1595Ser)	ClinVar dbSNP
17	g.63941499C=	CA2270160966	SCN4A	c.4783G= (p.Ala1595=)
17	g.63941499C>G	CA400614986	SCN4A	c.4783G>C (p.Ala1595Pro)
17	g.63941499C>T	CA8708901	SCN4A	c.4783G>A (p.Ala1595Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941500G>A	CA8708902	SCN4A	c.4782C>T (p.Ile1594=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941500G>C	CA400614987	SCN4A	c.4782C>G (p.Ile1594Met)
17	g.63941500G=	CA2270160967	SCN4A	c.4782C= (p.Ile1594=)
17	g.63941500G>T	CA501348046	SCN4A	c.4782C>A (p.Ile1594=)
17	g.63941501A>C	CA400614988	SCN4A	c.4781T>G (p.Ile1594Ser)
17	g.63941501A>G	CA400614989	SCN4A	c.4781T>C (p.Ile1594Thr)
17	g.63941501A>T	CA400614990	SCN4A	c.4781T>A (p.Ile1594Asn)	ClinVar
17	g.63941502T>A	CA400614991	SCN4A	c.4780A>T (p.Ile1594Phe)
17	g.63941502T>C	CA8708903	SCN4A	c.4780A>G (p.Ile1594Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941502T>G	CA400614992	SCN4A	c.4780A>C (p.Ile1594Leu)
17	g.63941502T=	CA2270160968	SCN4A	c.4780A= (p.Ile1594=)
17	g.63941503G>A	CA501348051	SCN4A	c.4779C>T (p.Tyr1593=)
17	g.63941503G>C	CA400614994	SCN4A	c.4779C>G (p.Tyr1593Ter)
17	g.63941503G>T	CA400614993	SCN4A	c.4779C>A (p.Tyr1593Ter)	ClinVar
17	g.63941504T>A	CA400614995	SCN4A	c.4778A>T (p.Tyr1593Phe)	ClinVar dbSNP
17	g.63941504T>C	CA400614997	SCN4A	c.4778A>G (p.Tyr1593Cys)
17	g.63941504T>G	CA400614996	SCN4A	c.4778A>C (p.Tyr1593Ser)
17	g.63941504T=	CA2270160969	SCN4A	c.4778A= (p.Tyr1593=)
17	g.63941505A>C	CA400614998	SCN4A	c.4777T>G (p.Tyr1593Asp)
17	g.63941505A>G	CA400614999	SCN4A	c.4777T>C (p.Tyr1593His)
17	g.63941505A>T	CA400615000	SCN4A	c.4777T>A (p.Tyr1593Asn)
17	g.63941506C>A	CA10603317	SCN4A	c.4776G>T (p.Met1592Ile)	ClinVar dbSNP
17	g.63941506C=	CA2270160970	SCN4A	c.4776G= (p.Met1592=)
17	g.63941506C>G	CA400615001	SCN4A	c.4776G>C (p.Met1592Ile)
17	g.63941506C>T	CA400615002	SCN4A	c.4776G>A (p.Met1592Ile)	ClinVar dbSNP
17	g.63941507A>C	CA400615003	SCN4A	c.4775T>G (p.Met1592Arg)
17	g.63941507A>G	CA400615004	SCN4A	c.4775T>C (p.Met1592Thr)	gnomAD v4
17	g.63941507A>T	CA400615005	SCN4A	c.4775T>A (p.Met1592Lys)
17	g.63941508T>A	CA400615006	SCN4A	c.4774A>T (p.Met1592Leu)
17	g.63941508T>C	CA117834	SCN4A	c.4774A>G (p.Met1592Val)	ClinVar dbSNP
17	g.63941508T>G	CA400615007	SCN4A	c.4774A>C (p.Met1592Leu)
17	g.63941508T=	CA2270160971	SCN4A	c.4774A= (p.Met1592=)
17	g.63941509G>A	CA501348061	SCN4A	c.4773C>T (p.Asn1591=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941509G>C	CA400615008	SCN4A	c.4773C>G (p.Asn1591Lys)
17	g.63941509G=	CA2270160972	SCN4A	c.4773C= (p.Asn1591=)
17	g.63941509G>T	CA400615009	SCN4A	c.4773C>A (p.Asn1591Lys)
17	g.63941510T>A	CA400615010	SCN4A	c.4772A>T (p.Asn1591Ile)	dbSNP
17	g.63941510T>C	CA400615011	SCN4A	c.4772A>G (p.Asn1591Ser)
17	g.63941510T>G	CA400615012	SCN4A	c.4772A>C (p.Asn1591Thr)
17	g.63941510T=	CA2270160973	SCN4A	c.4772A= (p.Asn1591=)
17	g.63941511T>A	CA400615013	SCN4A	c.4771A>T (p.Asn1591Tyr)
17	g.63941511T>C	CA400615014	SCN4A	c.4771A>G (p.Asn1591Asp)	gnomAD v4
17	g.63941511T>G	CA400615015	SCN4A	c.4771A>C (p.Asn1591His)
17	g.63941512G>A	CA501348065	SCN4A	c.4770C>T (p.Val1590=)
17	g.63941512G>C	CA501348067	SCN4A	c.4770C>G (p.Val1590=)
17	g.63941512G>T	CA501348066	SCN4A	c.4770C>A (p.Val1590=)
17	g.63941513A>C	CA400615016	SCN4A	c.4769T>G (p.Val1590Gly)
17	g.63941513A>G	CA400615017	SCN4A	c.4769T>C (p.Val1590Ala)
17	g.63941513A>T	CA400615018	SCN4A	c.4769T>A (p.Val1590Asp)
17	g.63941514C>A	CA400615019	SCN4A	c.4768G>T (p.Val1590Phe)
17	g.63941514C=	CA2270160974	SCN4A	c.4768G= (p.Val1590=)
17	g.63941514C>G	CA400615020	SCN4A	c.4768G>C (p.Val1590Leu)
17	g.63941514C>T	CA8708904	SCN4A	c.4768G>A (p.Val1590Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941515C>A	CA501348069	SCN4A	c.4767G>T (p.Val1589=)	dbSNP
17	g.63941515C=	CA2270160975	SCN4A	c.4767G= (p.Val1589=)
17	g.63941515C>G	CA501348070	SCN4A	c.4767G>C (p.Val1589=)
17	g.63941515C>T	CA501348071	SCN4A	c.4767G>A (p.Val1589=)
17	g.63941516A=	CA2270160976	SCN4A	c.4766T= (p.Val1589=)
17	g.63941516A>C	CA400615021	SCN4A	c.4766T>G (p.Val1589Gly)
17	g.63941516A>G	CA8708905	SCN4A	c.4766T>C (p.Val1589Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941516A>T	CA400615022	SCN4A	c.4766T>A (p.Val1589Glu)
17	g.63941517C>A	CA400615023	SCN4A	c.4765G>T (p.Val1589Leu)
17	g.63941517C=	CA2270160977	SCN4A	c.4765G= (p.Val1589=)
17	g.63941517C>G	CA400615024	SCN4A	c.4765G>C (p.Val1589Leu)
17	g.63941517C>T	CA117842	SCN4A	c.4765G>A (p.Val1589Met)	ClinVar dbSNP gnomAD v4
17	g.63941518G>A	CA8708906	SCN4A	c.4764C>T (p.Ile1588=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63941518G>C	CA400615025	SCN4A	c.4764C>G (p.Ile1588Met)	dbSNP gnomAD v4
17	g.63941518G=	CA2270160978	SCN4A	c.4764C= (p.Ile1588=)
17	g.63941518G>T	CA501348076	SCN4A	c.4764C>A (p.Ile1588=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941519A>C	CA400615026	SCN4A	c.4763T>G (p.Ile1588Ser)
17	g.63941519A>G	CA400615027	SCN4A	c.4763T>C (p.Ile1588Thr)	gnomAD v3 gnomAD v4
17	g.63941519A>T	CA400615028	SCN4A	c.4763T>A (p.Ile1588Asn)
17	g.63941520T>A	CA400615029	SCN4A	c.4762A>T (p.Ile1588Phe)
17	g.63941520T>C	CA400615030	SCN4A	c.4762A>G (p.Ile1588Val)	dbSNP gnomAD v2 gnomAD v4
17	g.63941520T>G	CA400615031	SCN4A	c.4762A>C (p.Ile1588Leu)
17	g.63941520T=	CA2270160979	SCN4A	c.4762A= (p.Ile1588=)
17	g.63941521G>A	CA501348078	SCN4A	c.4761C>T (p.Leu1587=)	gnomAD v4
17	g.63941521G>C	CA501348079	SCN4A	c.4761C>G (p.Leu1587=)
17	g.63941521G>T	CA501348080	SCN4A	c.4761C>A (p.Leu1587=)
17	g.63941523_63941525del	CA2697555062	SCN4A	c.4759_4761del (p.Leu1587del)	ClinVar
17	g.63941522A>C	CA400615032	SCN4A	c.4760T>G (p.Leu1587Arg)
17	g.63941522A>G	CA400615033	SCN4A	c.4760T>C (p.Leu1587Pro)
17	g.63941522A>T	CA400615034	SCN4A	c.4760T>A (p.Leu1587His)
17	g.63941523G>A	CA400615035	SCN4A	c.4759C>T (p.Leu1587Phe)	ClinVar dbSNP
17	g.63941523G>C	CA400615036	SCN4A	c.4759C>G (p.Leu1587Val)
17	g.63941523G=	CA2270160980	SCN4A	c.4759C= (p.Leu1587=)
17	g.63941523G>T	CA400615037	SCN4A	c.4759C>A (p.Leu1587Ile)
17	g.63941524G>A	CA501348082	SCN4A	c.4758C>T (p.Phe1586=)
17	g.63941524G>C	CA400615038	SCN4A	c.4758C>G (p.Phe1586Leu)
17	g.63941524G>T	CA400615039	SCN4A	c.4758C>A (p.Phe1586Leu)
17	g.63941525A>C	CA400615040	SCN4A	c.4757T>G (p.Phe1586Cys)
17	g.63941525A>G	CA400615041	SCN4A	c.4757T>C (p.Phe1586Ser)	ClinVar dbSNP
17	g.63941525A>T	CA400615042	SCN4A	c.4757T>A (p.Phe1586Tyr)
17	g.63941526A>C	CA400615043	SCN4A	c.4756T>G (p.Phe1586Val)
17	g.63941526A>G	CA400615044	SCN4A	c.4756T>C (p.Phe1586Leu)
17	g.63941526A>T	CA400615045	SCN4A	c.4756T>A (p.Phe1586Ile)
17	g.63941527G>A	CA501348092	SCN4A	c.4755C>T (p.Ser1585=)	gnomAD v4
17	g.63941527G>C	CA501348091	SCN4A	c.4755C>G (p.Ser1585=)
17	g.63941527G>T	CA501348089	SCN4A	c.4755C>A (p.Ser1585=)
17	g.63941528G>A	CA400615046	SCN4A	c.4754C>T (p.Ser1585Phe)	ClinVar dbSNP gnomAD v2
17	g.63941528G>C	CA400615047	SCN4A	c.4754C>G (p.Ser1585Cys)
17	g.63941528G=	CA2270160981	SCN4A	c.4754C= (p.Ser1585=)
17	g.63941528G>T	CA400615048	SCN4A	c.4754C>A (p.Ser1585Tyr)
17	g.63941529A>C	CA400615049	SCN4A	c.4753T>G (p.Ser1585Ala)
17	g.63941529A>G	CA400615050	SCN4A	c.4753T>C (p.Ser1585Pro)	gnomAD v4
17	g.63941529A>T	CA400615051	SCN4A	c.4753T>A (p.Ser1585Thr)
17	g.63941530G>A	CA501348095	SCN4A	c.4752C>T (p.Ile1584=)	dbSNP
17	g.63941530G>C	CA400615052	SCN4A	c.4752C>G (p.Ile1584Met)	dbSNP gnomAD v2 gnomAD v4
17	g.63941530G=	CA2270160982	SCN4A	c.4752C= (p.Ile1584=)
17	g.63941530G>T	CA501348096	SCN4A	c.4752C>A (p.Ile1584=)
17	g.63941531A>C	CA400615055	SCN4A	c.4751T>G (p.Ile1584Ser)
17	g.63941531A>G	CA400615053	SCN4A	c.4751T>C (p.Ile1584Thr)
17	g.63941531A>T	CA400615054	SCN4A	c.4751T>A (p.Ile1584Asn)
17	g.63941532T>A	CA400615058	SCN4A	c.4750A>T (p.Ile1584Phe)
17	g.63941532T>C	CA400615060	SCN4A	c.4750A>G (p.Ile1584Val)
17	g.63941532T>G	CA400615062	SCN4A	c.4750A>C (p.Ile1584Leu)
17	g.63941533G>A	CA501348100	SCN4A	c.4749C>T (p.Ile1583=)
17	g.63941533G>C	CA400615065	SCN4A	c.4749C>G (p.Ile1583Met)
17	g.63941533G>T	CA501348101	SCN4A	c.4749C>A (p.Ile1583=)
17	g.63941534A>C	CA400615069	SCN4A	c.4748T>G (p.Ile1583Ser)
17	g.63941534A>G	CA400615071	SCN4A	c.4748T>C (p.Ile1583Thr)
17	g.63941534A>T	CA400615074	SCN4A	c.4748T>A (p.Ile1583Asn)
17	g.63941535T>A	CA400615076	SCN4A	c.4747A>T (p.Ile1583Phe)
17	g.63941535T>C	CA400615080	SCN4A	c.4747A>G (p.Ile1583Val)	dbSNP gnomAD v3 gnomAD v4
17	g.63941535T>G	CA400615083	SCN4A	c.4747A>C (p.Ile1583Leu)
17	g.63941535T=	CA2270160983	SCN4A	c.4747A= (p.Ile1583=)
17	g.63941536G>A	CA501348104	SCN4A	c.4746C>T (p.Ile1582=)	dbSNP gnomAD v4
17	g.63941536G>C	CA400615085	SCN4A	c.4746C>G (p.Ile1582Met)
17	g.63941536G=	CA2270160984	SCN4A	c.4746C= (p.Ile1582=)
17	g.63941536G>T	CA501348107	SCN4A	c.4746C>A (p.Ile1582=)
17	g.63941537A>C	CA400615091	SCN4A	c.4745T>G (p.Ile1582Ser)
17	g.63941537A>G	CA400615094	SCN4A	c.4745T>C (p.Ile1582Thr)	gnomAD v4
17	g.63941537A>T	CA400615089	SCN4A	c.4745T>A (p.Ile1582Asn)
17	g.63941538T>A	CA400615097	SCN4A	c.4744A>T (p.Ile1582Phe)
17	g.63941538T>C	CA400615099	SCN4A	c.4744A>G (p.Ile1582Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941538T>G	CA400615101	SCN4A	c.4744A>C (p.Ile1582Leu)
17	g.63941538T=	CA2270160985	SCN4A	c.4744A= (p.Ile1582=)
17	g.63941539A>C	CA400615105	SCN4A	c.4743T>G (p.Tyr1581Ter)
17	g.63941539A>G	CA501348108	SCN4A	c.4743T>C (p.Tyr1581=)	ClinVar
17	g.63941539A>T	CA400615107	SCN4A	c.4743T>A (p.Tyr1581Ter)
17	g.63941540T>A	CA400615114	SCN4A	c.4742A>T (p.Tyr1581Phe)
17	g.63941540T>C	CA292956882	SCN4A	c.4742A>G (p.Tyr1581Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941540T>G	CA400615112	SCN4A	c.4742A>C (p.Tyr1581Ser)
17	g.63941540T=	CA2270160986	SCN4A	c.4742A= (p.Tyr1581=)
17	g.63941541A>C	CA400615117	SCN4A	c.4741T>G (p.Tyr1581Asp)
17	g.63941541A>G	CA400615122	SCN4A	c.4741T>C (p.Tyr1581His)
17	g.63941541A>T	CA400615124	SCN4A	c.4741T>A (p.Tyr1581Asn)
17	g.63941542G>A	CA501348110	SCN4A	c.4740C>T (p.Ser1580=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941542G>C	CA400615127	SCN4A	c.4740C>G (p.Ser1580Arg)
17	g.63941542G=	CA2270160987	SCN4A	c.4740C= (p.Ser1580=)
17	g.63941542G>T	CA400615129	SCN4A	c.4740C>A (p.Ser1580Arg)
17	g.63941543C>A	CA400615131	SCN4A	c.4739G>T (p.Ser1580Ile)
17	g.63941543C>G	CA400615136	SCN4A	c.4739G>C (p.Ser1580Thr)
17	g.63941543C>T	CA400615133	SCN4A	c.4739G>A (p.Ser1580Asn)	gnomAD v4
17	g.63941544T>A	CA400615139	SCN4A	c.4738A>T (p.Ser1580Cys)
17	g.63941544T>C	CA400615144	SCN4A	c.4738A>G (p.Ser1580Gly)
17	g.63941544T>G	CA400615142	SCN4A	c.4738A>C (p.Ser1580Arg)
17	g.63941545G>A	CA501348113	SCN4A	c.4737C>T (p.Cys1579=)
17	g.63941545G>C	CA400615147	SCN4A	c.4737C>G (p.Cys1579Trp)	dbSNP
17	g.63941545G=	CA2270160988	SCN4A	c.4737C= (p.Cys1579=)
17	g.63941545G>T	CA400615148	SCN4A	c.4737C>A (p.Cys1579Ter)	dbSNP gnomAD v4
17	g.63941546C>A	CA400615152	SCN4A	c.4736G>T (p.Cys1579Phe)
17	g.63941546C>G	CA400615154	SCN4A	c.4736G>C (p.Cys1579Ser)
17	g.63941546C>T	CA400615156	SCN4A	c.4736G>A (p.Cys1579Tyr)
17	g.63941547A>C	CA400615160	SCN4A	c.4735T>G (p.Cys1579Gly)
17	g.63941547A>G	CA400615162	SCN4A	c.4735T>C (p.Cys1579Arg)
17	g.63941547A>T	CA400615163	SCN4A	c.4735T>A (p.Cys1579Ser)
17	g.63941552_63941554del	CA2639323950	SCN4A	c.4733_4735del (p.Phe1578del)	gnomAD v4
17	g.63941548G>A	CA501348115	SCN4A	c.4734C>T (p.Phe1578=)
17	g.63941548G>C	CA400615166	SCN4A	c.4734C>G (p.Phe1578Leu)
17	g.63941548G>T	CA400615168	SCN4A	c.4734C>A (p.Phe1578Leu)
17	g.63941549A>C	CA400615170	SCN4A	c.4733T>G (p.Phe1578Cys)
17	g.63941549A>G	CA400615172	SCN4A	c.4733T>C (p.Phe1578Ser)
17	g.63941549A>T	CA400615174	SCN4A	c.4733T>A (p.Phe1578Tyr)
17	g.63941550A>C	CA400615176	SCN4A	c.4732T>G (p.Phe1578Val)
17	g.63941550A>G	CA400615181	SCN4A	c.4732T>C (p.Phe1578Leu)
17	g.63941550A>T	CA400615179	SCN4A	c.4732T>A (p.Phe1578Ile)	gnomAD v4
17	g.63941551G>A	CA501348117	SCN4A	c.4731C>T (p.Phe1577=)
17	g.63941551G>C	CA400615184	SCN4A	c.4731C>G (p.Phe1577Leu)
17	g.63941551G>T	CA400615186	SCN4A	c.4731C>A (p.Phe1577Leu)
17	g.63941552A>C	CA400615189	SCN4A	c.4730T>G (p.Phe1577Cys)	gnomAD v4
17	g.63941552A>G	CA400615191	SCN4A	c.4730T>C (p.Phe1577Ser)
17	g.63941552A>T	CA400615193	SCN4A	c.4730T>A (p.Phe1577Tyr)	gnomAD v4
17	g.63941553A>C	CA400615196	SCN4A	c.4729T>G (p.Phe1577Val)
17	g.63941553A>G	CA400615199	SCN4A	c.4729T>C (p.Phe1577Leu)
17	g.63941553A>T	CA400615201	SCN4A	c.4729T>A (p.Phe1577Ile)
17	g.63941554G>A	CA501348119	SCN4A	c.4728C>T (p.Cys1576=)	gnomAD v4
17	g.63941554G>C	CA400615204	SCN4A	c.4728C>G (p.Cys1576Trp)
17	g.63941554G=	CA2270160989	SCN4A	c.4728C= (p.Cys1576=)
17	g.63941554G>T	CA400615206	SCN4A	c.4728C>A (p.Cys1576Ter)	dbSNP
17	g.63941558_63941581del	CA2639323970	SCN4A	c.4705_4728del (p.Gly1569_Cys1576del)	gnomAD v4
17	g.63941555C>A	CA400615214	SCN4A	c.4727G>T (p.Cys1576Phe)
17	g.63941555C>G	CA400615212	SCN4A	c.4727G>C (p.Cys1576Ser)
17	g.63941555C>T	CA400615209	SCN4A	c.4727G>A (p.Cys1576Tyr)
17	g.63941556A=	CA2270160990	SCN4A	c.4726T= (p.Cys1576=)
17	g.63941556A>C	CA400615217	SCN4A	c.4726T>G (p.Cys1576Gly)
17	g.63941556A>G	CA292956884	SCN4A	c.4726T>C (p.Cys1576Arg)	dbSNP gnomAD v2
17	g.63941556A>T	CA400615222	SCN4A	c.4726T>A (p.Cys1576Ser)
17	g.63941557G>A	CA501348120	SCN4A	c.4725C>T (p.Ile1575=)
17	g.63941557G>C	CA400615225	SCN4A	c.4725C>G (p.Ile1575Met)
17	g.63941557G>T	CA501348122	SCN4A	c.4725C>A (p.Ile1575=)
17	g.63941558A>C	CA400615228	SCN4A	c.4724T>G (p.Ile1575Ser)
17	g.63941558A>G	CA400615230	SCN4A	c.4724T>C (p.Ile1575Thr)
17	g.63941558A>T	CA400615232	SCN4A	c.4724T>A (p.Ile1575Asn)
17	g.63941559T>A	CA400615235	SCN4A	c.4723A>T (p.Ile1575Phe)
17	g.63941559T>C	CA400615237	SCN4A	c.4723A>G (p.Ile1575Val)
17	g.63941559T>G	CA400615239	SCN4A	c.4723A>C (p.Ile1575Leu)
17	g.63941560G>A	CA501348125	SCN4A	c.4722C>T (p.Gly1574=)	gnomAD v4
17	g.63941560G>C	CA501348126	SCN4A	c.4722C>G (p.Gly1574=)
17	g.63941560G>T	CA501348127	SCN4A	c.4722C>A (p.Gly1574=)
17	g.63941561_63941563dup	CA2810127874	SCN4A	c.4720_4722dup (p.Gly1574_Ile1575insGly)
17	g.63941561C>A	CA400615243	SCN4A	c.4721G>T (p.Gly1574Val)
17	g.63941561C>G	CA400615244	SCN4A	c.4721G>C (p.Gly1574Ala)
17	g.63941561C>T	CA400615247	SCN4A	c.4721G>A (p.Gly1574Asp)
17	g.63941562C>A	CA400615254	SCN4A	c.4720G>T (p.Gly1574Cys)
17	g.63941562C=	CA2270160991	SCN4A	c.4720G= (p.Gly1574=)
17	g.63941562C>G	CA400615250	SCN4A	c.4720G>C (p.Gly1574Arg)
17	g.63941562C>T	CA292956893	SCN4A	c.4720G>A (p.Gly1574Ser)	dbSNP gnomAD v4
17	g.63941563G>A	CA8708907	SCN4A	c.4719C>T (p.Ile1573=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941563G>C	CA400615258	SCN4A	c.4719C>G (p.Ile1573Met)
17	g.63941563G=	CA2270160992	SCN4A	c.4719C= (p.Ile1573=)
17	g.63941563G>T	CA501348130	SCN4A	c.4719C>A (p.Ile1573=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941564A>C	CA400615261	SCN4A	c.4718T>G (p.Ile1573Ser)
17	g.63941564A>G	CA400615263	SCN4A	c.4718T>C (p.Ile1573Thr)
17	g.63941564A>T	CA400615266	SCN4A	c.4718T>A (p.Ile1573Asn)
17	g.63941565T>A	CA400615269	SCN4A	c.4717A>T (p.Ile1573Phe)
17	g.63941565T>C	CA8708908	SCN4A	c.4717A>G (p.Ile1573Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941565T>G	CA400615273	SCN4A	c.4717A>C (p.Ile1573Leu)
17	g.63941565T=	CA2270160993	SCN4A	c.4717A= (p.Ile1573=)
17	g.63941566G>A	CA292956904	SCN4A	c.4716C>T (p.Ser1572=)	ClinVar dbSNP
17	g.63941566G>C	CA501348132	SCN4A	c.4716C>G (p.Ser1572=)
17	g.63941566G=	CA2270160994	SCN4A	c.4716C= (p.Ser1572=)
17	g.63941566G>T	CA501348133	SCN4A	c.4716C>A (p.Ser1572=)
17	g.63941567G>A	CA400615276	SCN4A	c.4715C>T (p.Ser1572Phe)
17	g.63941567G>C	CA400615278	SCN4A	c.4715C>G (p.Ser1572Cys)
17	g.63941567G=	CA2270160995	SCN4A	c.4715C= (p.Ser1572=)
17	g.63941567G>T	CA400615280	SCN4A	c.4715C>A (p.Ser1572Tyr)	dbSNP gnomAD v4
17	g.63941568A>C	CA400615283	SCN4A	c.4714T>G (p.Ser1572Ala)
17	g.63941568A>G	CA400615288	SCN4A	c.4714T>C (p.Ser1572Pro)
17	g.63941568A>T	CA400615285	SCN4A	c.4714T>A (p.Ser1572Thr)
17	g.63941569G>A	CA501348140	SCN4A	c.4713C>T (p.Pro1571=)	gnomAD v4 COSMIC
17	g.63941569G>C	CA8708909	SCN4A	c.4713C>G (p.Pro1571=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941569G=	CA2270160996	SCN4A	c.4713C= (p.Pro1571=)
17	g.63941569G>T	CA501348138	SCN4A	c.4713C>A (p.Pro1571=)
17	g.63941572del	CA501348139	SCN4A	c.4713del (p.Ser1572ProfsTer?)
17	g.63941570G>A	CA400615294	SCN4A	c.4712C>T (p.Pro1571Leu)
17	g.63941570G>C	CA400615291	SCN4A	c.4712C>G (p.Pro1571Arg)
17	g.63941570G>T	CA400615296	SCN4A	c.4712C>A (p.Pro1571His)
17	g.63941571G>A	CA8708910	SCN4A	c.4711C>T (p.Pro1571Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941571G>C	CA400615302	SCN4A	c.4711C>G (p.Pro1571Ala)
17	g.63941571G=	CA2270160997	SCN4A	c.4711C= (p.Pro1571=)
17	g.63941571G>T	CA400615300	SCN4A	c.4711C>A (p.Pro1571Thr)
17	g.63941572G>A	CA501348143	SCN4A	c.4710C>T (p.Asn1570=)
17	g.63941572G>C	CA400615304	SCN4A	c.4710C>G (p.Asn1570Lys)
17	g.63941572G=	CA2270160998	SCN4A	c.4710C= (p.Asn1570=)
17	g.63941572G>T	CA400615307	SCN4A	c.4710C>A (p.Asn1570Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941573T>A	CA400615310	SCN4A	c.4709A>T (p.Asn1570Ile)
17	g.63941573T>C	CA8708911	SCN4A	c.4709A>G (p.Asn1570Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941573T>G	CA400615311	SCN4A	c.4709A>C (p.Asn1570Thr)
17	g.63941573T=	CA2270160999	SCN4A	c.4709A= (p.Asn1570=)
17	g.63941574T>A	CA400615316	SCN4A	c.4708A>T (p.Asn1570Tyr)
17	g.63941574T>C	CA400615317	SCN4A	c.4708A>G (p.Asn1570Asp)
17	g.63941574T>G	CA400615319	SCN4A	c.4708A>C (p.Asn1570His)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63941574T=	CA2270161000	SCN4A	c.4708A= (p.Asn1570=)
17	g.63941575G>A	CA501348146	SCN4A	c.4707C>T (p.Gly1569=)
17	g.63941575G>C	CA501348144	SCN4A	c.4707C>G (p.Gly1569=)
17	g.63941575G>T	CA501348145	SCN4A	c.4707C>A (p.Gly1569=)

Number of alleles fetched