Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63940945_63940946dup	CA627150456	SCN4A	c.5337_5338dup (p.Tyr1780CysfsTer29)	dbSNP gnomAD v2 gnomAD v4
17	g.63940946A=	CA2270160681	SCN4A	c.5336T= (p.Met1779=)
17	g.63940946A>C	CA400610835	SCN4A	c.5336T>G (p.Met1779Arg)
17	g.63940946A>G	CA400610831	SCN4A	c.5336T>C (p.Met1779Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63940946A>T	CA400610829	SCN4A	c.5336T>A (p.Met1779Lys)
17	g.63940947T>A	CA8708781	SCN4A	c.5335A>T (p.Met1779Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63940947T>C	CA400610840	SCN4A	c.5335A>G (p.Met1779Val)
17	g.63940947T>G	CA400610842	SCN4A	c.5335A>C (p.Met1779Leu)
17	g.63940947T=	CA2270160682	SCN4A	c.5335A= (p.Met1779=)
17	g.63940948C>A	CA400610848	SCN4A	c.5334G>T (p.Lys1778Asn)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
17	g.63940948C=	CA2270160683	SCN4A	c.5334G= (p.Lys1778=)
17	g.63940948C>G	CA400610851	SCN4A	c.5334G>C (p.Lys1778Asn)	dbSNP gnomAD v4
17	g.63940948C>T	CA8708782	SCN4A	c.5334G>A (p.Lys1778=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63940949T>A	CA400610857	SCN4A	c.5333A>T (p.Lys1778Met)
17	g.63940949T>C	CA400610864	SCN4A	c.5333A>G (p.Lys1778Arg)
17	g.63940949T>G	CA400610862	SCN4A	c.5333A>C (p.Lys1778Thr)
17	g.63940950T>A	CA400610867	SCN4A	c.5332A>T (p.Lys1778Ter)	dbSNP
17	g.63940950T>C	CA400610870	SCN4A	c.5332A>G (p.Lys1778Glu)
17	g.63940950T>G	CA400610873	SCN4A	c.5332A>C (p.Lys1778Gln)
17	g.63940950T=	CA2270160684	SCN4A	c.5332A= (p.Lys1778=)
17	g.63940951G>A	CA501214141	SCN4A	c.5331C>T (p.Ser1777=)
17	g.63940951G>C	CA400610877	SCN4A	c.5331C>G (p.Ser1777Arg)
17	g.63940951G>T	CA400610879	SCN4A	c.5331C>A (p.Ser1777Arg)	gnomAD v4
17	g.63940952C>A	CA400610882	SCN4A	c.5330G>T (p.Ser1777Ile)
17	g.63940952C=	CA2270160685	SCN4A	c.5330G= (p.Ser1777=)
17	g.63940952C>G	CA400610883	SCN4A	c.5330G>C (p.Ser1777Thr)
17	g.63940952C>T	CA400610887	SCN4A	c.5330G>A (p.Ser1777Asn)	dbSNP gnomAD v4
17	g.63940953T>A	CA400610891	SCN4A	c.5329A>T (p.Ser1777Cys)
17	g.63940953T>C	CA400610901	SCN4A	c.5329A>G (p.Ser1777Gly)
17	g.63940953T>G	CA400610903	SCN4A	c.5329A>C (p.Ser1777Arg)
17	g.63940954C>A	CA400610906	SCN4A	c.5328G>T (p.Met1776Ile)
17	g.63940954C>G	CA400610913	SCN4A	c.5328G>C (p.Met1776Ile)
17	g.63940954C>T	CA400610909	SCN4A	c.5328G>A (p.Met1776Ile)	gnomAD v4
17	g.63940955A=	CA2270160686	SCN4A	c.5327T= (p.Met1776=)
17	g.63940955A>C	CA400610917	SCN4A	c.5327T>G (p.Met1776Arg)
17	g.63940955A>G	CA400610919	SCN4A	c.5327T>C (p.Met1776Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63940955A>T	CA400610921	SCN4A	c.5327T>A (p.Met1776Lys)
17	g.63940956T>A	CA400612880	SCN4A	c.5326A>T (p.Met1776Leu)
17	g.63940956T>C	CA400612881	SCN4A	c.5326A>G (p.Met1776Val)
17	g.63940956T>G	CA400612882	SCN4A	c.5326A>C (p.Met1776Leu)
17	g.63940957G>A	CA501347760	SCN4A	c.5325C>T (p.Thr1775=)
17	g.63940957G>C	CA501347761	SCN4A	c.5325C>G (p.Thr1775=)
17	g.63940957G>T	CA501347762	SCN4A	c.5325C>A (p.Thr1775=)
17	g.63940958G>A	CA400612883	SCN4A	c.5324C>T (p.Thr1775Ile)
17	g.63940958G>C	CA400612884	SCN4A	c.5324C>G (p.Thr1775Ser)
17	g.63940958G>T	CA400612885	SCN4A	c.5324C>A (p.Thr1775Asn)
17	g.63940959T>A	CA400612886	SCN4A	c.5323A>T (p.Thr1775Ser)
17	g.63940959T>C	CA400612887	SCN4A	c.5323A>G (p.Thr1775Ala)
17	g.63940959T>G	CA400612888	SCN4A	c.5323A>C (p.Thr1775Pro)	gnomAD v4
17	g.63940960G>A	CA501347766	SCN4A	c.5322C>T (p.Asn1774=)
17	g.63940960G>C	CA400612890	SCN4A	c.5322C>G (p.Asn1774Lys)
17	g.63940960G>T	CA400612889	SCN4A	c.5322C>A (p.Asn1774Lys)
17	g.63940961T>A	CA400612891	SCN4A	c.5321A>T (p.Asn1774Ile)
17	g.63940961T>C	CA400612892	SCN4A	c.5321A>G (p.Asn1774Ser)
17	g.63940961T>G	CA400612893	SCN4A	c.5321A>C (p.Asn1774Thr)	gnomAD v4
17	g.63940962T>A	CA400612894	SCN4A	c.5320A>T (p.Asn1774Tyr)
17	g.63940962T>C	CA400612895	SCN4A	c.5320A>G (p.Asn1774Asp)
17	g.63940962T>G	CA400612896	SCN4A	c.5320A>C (p.Asn1774His)
17	g.63940962_63940969del	CA2639321690	SCN4A	c.5313_5320del (p.Leu1772HisfsTer?)	gnomAD v4
17	g.63940963G>A	CA8708783	SCN4A	c.5319C>T (p.Ala1773=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63940963G>C	CA501347771	SCN4A	c.5319C>G (p.Ala1773=)
17	g.63940963G=	CA2270160687	SCN4A	c.5319C= (p.Ala1773=)
17	g.63940963G>T	CA501347772	SCN4A	c.5319C>A (p.Ala1773=)
17	g.63940964G>A	CA292956251	SCN4A	c.5318C>T (p.Ala1773Val)	dbSNP gnomAD v2 gnomAD v4
17	g.63940964G>C	CA400612897	SCN4A	c.5318C>G (p.Ala1773Gly)
17	g.63940964G=	CA2270160688	SCN4A	c.5318C= (p.Ala1773=)
17	g.63940964G>T	CA400612898	SCN4A	c.5318C>A (p.Ala1773Asp)
17	g.63940965C>A	CA400612899	SCN4A	c.5317G>T (p.Ala1773Ser)
17	g.63940965C=	CA2270160689	SCN4A	c.5317G= (p.Ala1773=)
17	g.63940965C>G	CA400612900	SCN4A	c.5317G>C (p.Ala1773Pro)	dbSNP
17	g.63940965C>T	CA400612901	SCN4A	c.5317G>A (p.Ala1773Thr)	dbSNP gnomAD v4
17	g.63940966A=	CA2270160690	SCN4A	c.5316T= (p.Leu1772=)
17	g.63940966A>C	CA501347779	SCN4A	c.5316T>G (p.Leu1772=)
17	g.63940966A>G	CA501347780	SCN4A	c.5316T>C (p.Leu1772=)	ClinVar dbSNP gnomAD v4
17	g.63940966A>T	CA501347781	SCN4A	c.5316T>A (p.Leu1772=)
17	g.63940967A=	CA2270160691	SCN4A	c.5315T= (p.Leu1772=)
17	g.63940967A>C	CA400612903	SCN4A	c.5315T>G (p.Leu1772Arg)
17	g.63940967A>G	CA292956255	SCN4A	c.5315T>C (p.Leu1772Pro)	ClinVar dbSNP gnomAD v4
17	g.63940967A>T	CA400612902	SCN4A	c.5315T>A (p.Leu1772His)
17	g.63940968G>A	CA400612905	SCN4A	c.5314C>T (p.Leu1772Phe)	dbSNP gnomAD v4
17	g.63940968G>C	CA400612904	SCN4A	c.5314C>G (p.Leu1772Val)
17	g.63940968G>T	CA400612906	SCN4A	c.5314C>A (p.Leu1772Ile)
17	g.63940969C>A	CA501347791	SCN4A	c.5313G>T (p.Leu1771=)
17	g.63940969C>G	CA501347788	SCN4A	c.5313G>C (p.Leu1771=)
17	g.63940969C>T	CA501347790	SCN4A	c.5313G>A (p.Leu1771=)
17	g.63940970A=	CA2270160692	SCN4A	c.5312T= (p.Leu1771=)
17	g.63940970A>C	CA400612907	SCN4A	c.5312T>G (p.Leu1771Arg)
17	g.63940970A>G	CA400612908	SCN4A	c.5312T>C (p.Leu1771Pro)	gnomAD v4
17	g.63940970A>T	CA400612909	SCN4A	c.5312T>A (p.Leu1771Gln)	dbSNP gnomAD v3 gnomAD v4
17	g.63940970_63940971insT	CA2639321748	SCN4A	c.5311_5312insA (p.Leu1771HisfsTer?)	gnomAD v4
17	g.63940971G>A	CA501347793	SCN4A	c.5311C>T (p.Leu1771=)
17	g.63940971G>C	CA400612910	SCN4A	c.5311C>G (p.Leu1771Val)
17	g.63940971G>T	CA400612911	SCN4A	c.5311C>A (p.Leu1771Met)
17	g.63940972C>A	CA501347798	SCN4A	c.5310G>T (p.Gly1770=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63940972C=	CA2270160693	SCN4A	c.5310G= (p.Gly1770=)
17	g.63940972C>G	CA501347799	SCN4A	c.5310G>C (p.Gly1770=)
17	g.63940972C>T	CA501347800	SCN4A	c.5310G>A (p.Gly1770=)	dbSNP gnomAD v4
17	g.63940973C>A	CA400612912	SCN4A	c.5309G>T (p.Gly1770Val)	dbSNP
17	g.63940973C=	CA2270160694	SCN4A	c.5309G= (p.Gly1770=)
17	g.63940973C>G	CA400612913	SCN4A	c.5309G>C (p.Gly1770Ala)
17	g.63940973C>T	CA400612914	SCN4A	c.5309G>A (p.Gly1770Glu)	dbSNP
17	g.63940974C>A	CA400612915	SCN4A	c.5308G>T (p.Gly1770Trp)
17	g.63940974C=	CA2270160695	SCN4A	c.5308G= (p.Gly1770=)
17	g.63940974C>G	CA400612916	SCN4A	c.5308G>C (p.Gly1770Arg)
17	g.63940974C>T	CA400612917	SCN4A	c.5308G>A (p.Gly1770Arg)	ClinVar dbSNP
17	g.63940975C>A	CA400612918	SCN4A	c.5307G>T (p.Glu1769Asp)
17	g.63940975C=	CA2270160696	SCN4A	c.5307G= (p.Glu1769=)
17	g.63940975C>G	CA400612919	SCN4A	c.5307G>C (p.Glu1769Asp)
17	g.63940975C>T	CA501347805	SCN4A	c.5307G>A (p.Glu1769=)	dbSNP gnomAD v2 gnomAD v4
17	g.63940976T>A	CA400612920	SCN4A	c.5306A>T (p.Glu1769Val)
17	g.63940976T>C	CA400612921	SCN4A	c.5306A>G (p.Glu1769Gly)
17	g.63940976T>G	CA8708784	SCN4A	c.5306A>C (p.Glu1769Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63940976T=	CA2270160697	SCN4A	c.5306A= (p.Glu1769=)
17	g.63940977C>A	CA400612922	SCN4A	c.5305G>T (p.Glu1769Ter)	dbSNP
17	g.63940977C=	CA2270160698	SCN4A	c.5305G= (p.Glu1769=)
17	g.63940977C>G	CA400612923	SCN4A	c.5305G>C (p.Glu1769Gln)
17	g.63940977C>T	CA400612924	SCN4A	c.5305G>A (p.Glu1769Lys)	gnomAD v4
17	g.63940978C>A	CA400612925	SCN4A	c.5304G>T (p.Lys1768Asn)	gnomAD v4
17	g.63940978C>G	CA400612926	SCN4A	c.5304G>C (p.Lys1768Asn)
17	g.63940978C>T	CA501347808	SCN4A	c.5304G>A (p.Lys1768=)	gnomAD v4
17	g.63940979T>A	CA400612927	SCN4A	c.5303A>T (p.Lys1768Met)
17	g.63940979T>C	CA292956267	SCN4A	c.5303A>G (p.Lys1768Arg)	dbSNP
17	g.63940979T>G	CA400612928	SCN4A	c.5303A>C (p.Lys1768Thr)
17	g.63940979T=	CA2270160699	SCN4A	c.5303A= (p.Lys1768=)
17	g.63940980T>A	CA400612929	SCN4A	c.5302A>T (p.Lys1768Ter)	dbSNP
17	g.63940980T>C	CA400612930	SCN4A	c.5302A>G (p.Lys1768Glu)
17	g.63940980T>G	CA400612931	SCN4A	c.5302A>C (p.Lys1768Gln)
17	g.63940980T=	CA2270160700	SCN4A	c.5302A= (p.Lys1768=)
17	g.63940981C>A	CA400612933	SCN4A	c.5301G>T (p.Glu1767Asp)
17	g.63940981C>G	CA400612932	SCN4A	c.5301G>C (p.Glu1767Asp)
17	g.63940981C>T	CA501347813	SCN4A	c.5301G>A (p.Glu1767=)
17	g.63940982T>A	CA400612936	SCN4A	c.5300A>T (p.Glu1767Val)
17	g.63940982T>C	CA400612938	SCN4A	c.5300A>G (p.Glu1767Gly)
17	g.63940982T>G	CA400612940	SCN4A	c.5300A>C (p.Glu1767Ala)
17	g.63940983C>A	CA400612942	SCN4A	c.5299G>T (p.Glu1767Ter)	dbSNP
17	g.63940983C=	CA2270160701	SCN4A	c.5299G= (p.Glu1767=)
17	g.63940983C>G	CA400612944	SCN4A	c.5299G>C (p.Glu1767Gln)
17	g.63940983C>T	CA400612946	SCN4A	c.5299G>A (p.Glu1767Lys)
17	g.63940984A>C	CA501347816	SCN4A	c.5298T>G (p.Pro1766=)
17	g.63940984A>G	CA501347817	SCN4A	c.5298T>C (p.Pro1766=)	ClinVar gnomAD v4
17	g.63940984A>T	CA501347818	SCN4A	c.5298T>A (p.Pro1766=)
17	g.63940984_63940985delinsAG	CA2270160702	SCN4A	c.5297_5298delinsCT (p.Pro1766=)
17	g.63940985G>A	CA8708786	SCN4A	c.5297C>T (p.Pro1766Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63940985G>C	CA400612951	SCN4A	c.5297C>G (p.Pro1766Arg)
17	g.63940985G=	CA2270160703	SCN4A	c.5297C= (p.Pro1766=)
17	g.63940985G>T	CA400612953	SCN4A	c.5297C>A (p.Pro1766His)
17	g.63940988del	CA8708785	SCN4A	c.5297del (p.Pro1766LeufsTer11)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63940986G>A	CA400612958	SCN4A	c.5296C>T (p.Pro1766Ser)	gnomAD v4
17	g.63940986G>C	CA400612960	SCN4A	c.5296C>G (p.Pro1766Ala)	dbSNP gnomAD v4
17	g.63940986G=	CA2270160704	SCN4A	c.5296C= (p.Pro1766=)
17	g.63940986G>T	CA400612962	SCN4A	c.5296C>A (p.Pro1766Thr)
17	g.63940987G>A	CA501347824	SCN4A	c.5295C>T (p.Ala1765=)
17	g.63940987G>C	CA501347825	SCN4A	c.5295C>G (p.Ala1765=)
17	g.63940987G>T	CA501347827	SCN4A	c.5295C>A (p.Ala1765=)
17	g.63940988G>A	CA400612966	SCN4A	c.5294C>T (p.Ala1765Val)	dbSNP gnomAD v2 gnomAD v4
17	g.63940988G>C	CA10646441	SCN4A	c.5294C>G (p.Ala1765Gly)	ClinVar dbSNP
17	g.63940988G=	CA2270160705	SCN4A	c.5294C= (p.Ala1765=)
17	g.63940988G>T	CA8708787	SCN4A	c.5294C>A (p.Ala1765Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63940989C>A	CA400612968	SCN4A	c.5293G>T (p.Ala1765Ser)	gnomAD v4
17	g.63940989C=	CA2270160706	SCN4A	c.5293G= (p.Ala1765=)
17	g.63940989C>G	CA400612970	SCN4A	c.5293G>C (p.Ala1765Pro)
17	g.63940989C>T	CA8708788	SCN4A	c.5293G>A (p.Ala1765Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63940990G>A	CA8708789	SCN4A	c.5292C>T (p.Asp1764=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63940990G>C	CA400612978	SCN4A	c.5292C>G (p.Asp1764Glu)
17	g.63940990G=	CA2270160707	SCN4A	c.5292C= (p.Asp1764=)
17	g.63940990G>T	CA400612981	SCN4A	c.5292C>A (p.Asp1764Glu)
17	g.63940991T>A	CA400612984	SCN4A	c.5291A>T (p.Asp1764Val)
17	g.63940991T>C	CA400612988	SCN4A	c.5291A>G (p.Asp1764Gly)	ClinVar dbSNP gnomAD v4
17	g.63940991T>G	CA400612985	SCN4A	c.5291A>C (p.Asp1764Ala)
17	g.63940991T=	CA2270160708	SCN4A	c.5291A= (p.Asp1764=)
17	g.63940992C>A	CA400612990	SCN4A	c.5290G>T (p.Asp1764Tyr)
17	g.63940992C>G	CA400612992	SCN4A	c.5290G>C (p.Asp1764His)
17	g.63940992C>T	CA400612994	SCN4A	c.5290G>A (p.Asp1764Asn)	ClinVar dbSNP gnomAD v4
17	g.63940992_63940993del	CA645580707	SCN4A	c.5289_5290del (p.Asp1763GlufsTer4)	COSMIC
17	g.63940993A>C	CA400612996	SCN4A	c.5289T>G (p.Asp1763Glu)
17	g.63940993A>G	CA501347838	SCN4A	c.5289T>C (p.Asp1763=)	dbSNP
17	g.63940993A>T	CA400612999	SCN4A	c.5289T>A (p.Asp1763Glu)
17	g.63940994T>A	CA400613004	SCN4A	c.5288A>T (p.Asp1763Val)
17	g.63940994T>C	CA400613006	SCN4A	c.5288A>G (p.Asp1763Gly)
17	g.63940994T>G	CA400613001	SCN4A	c.5288A>C (p.Asp1763Ala)
17	g.63940995C>A	CA400613008	SCN4A	c.5287G>T (p.Asp1763Tyr)
17	g.63940995C>G	CA400613010	SCN4A	c.5287G>C (p.Asp1763His)
17	g.63940995C>T	CA400613013	SCN4A	c.5287G>A (p.Asp1763Asn)
17	g.63940996C>A	CA501347844	SCN4A	c.5286G>T (p.Gly1762=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.63940996C=	CA2270160709	SCN4A	c.5286G= (p.Gly1762=)
17	g.63940996C>G	CA501347846	SCN4A	c.5286G>C (p.Gly1762=)	ClinVar dbSNP
17	g.63940996C>T	CA501347845	SCN4A	c.5286G>A (p.Gly1762=)	gnomAD v4
17	g.63940997C>A	CA400613016	SCN4A	c.5285G>T (p.Gly1762Val)
17	g.63940997C=	CA2270160710	SCN4A	c.5285G= (p.Gly1762=)
17	g.63940997C>G	CA400613018	SCN4A	c.5285G>C (p.Gly1762Ala)	gnomAD v4
17	g.63940997C>T	CA400613020	SCN4A	c.5285G>A (p.Gly1762Glu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63940998C>A	CA400613027	SCN4A	c.5284G>T (p.Gly1762Trp)
17	g.63940998C=	CA2270160711	SCN4A	c.5284G= (p.Gly1762=)
17	g.63940998C>G	CA400613025	SCN4A	c.5284G>C (p.Gly1762Arg)
17	g.63940998C>T	CA8708790	SCN4A	c.5284G>A (p.Gly1762Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63940999G>A	CA8708791	SCN4A	c.5283C>T (p.Ser1761=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63940999G>C	CA400613031	SCN4A	c.5283C>G (p.Ser1761Arg)
17	g.63940999G=	CA2270160712	SCN4A	c.5283C= (p.Ser1761=)
17	g.63940999G>T	CA400613033	SCN4A	c.5283C>A (p.Ser1761Arg)
17	g.63941000C>A	CA400613036	SCN4A	c.5282G>T (p.Ser1761Ile)
17	g.63941000C=	CA2270160713	SCN4A	c.5282G= (p.Ser1761=)
17	g.63941000C>G	CA400613039	SCN4A	c.5282G>C (p.Ser1761Thr)
17	g.63941000C>T	CA400613042	SCN4A	c.5282G>A (p.Ser1761Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941001T>A	CA400613045	SCN4A	c.5281A>T (p.Ser1761Cys)
17	g.63941001T>C	CA400613049	SCN4A	c.5281A>G (p.Ser1761Gly)
17	g.63941001T>G	CA400613047	SCN4A	c.5281A>C (p.Ser1761Arg)
17	g.63941002G>A	CA501347852	SCN4A	c.5280C>T (p.Gly1760=)
17	g.63941002G>C	CA501347853	SCN4A	c.5280C>G (p.Gly1760=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941002G=	CA2270160714	SCN4A	c.5280C= (p.Gly1760=)
17	g.63941002G>T	CA501347854	SCN4A	c.5280C>A (p.Gly1760=)
17	g.63941003C>A	CA400613051	SCN4A	c.5279G>T (p.Gly1760Val)	gnomAD v4
17	g.63941003C>G	CA400613052	SCN4A	c.5279G>C (p.Gly1760Ala)
17	g.63941003C>T	CA400613053	SCN4A	c.5279G>A (p.Gly1760Asp)
17	g.63941004C>A	CA400613055	SCN4A	c.5278G>T (p.Gly1760Cys)
17	g.63941004C=	CA2270160715	SCN4A	c.5278G= (p.Gly1760=)
17	g.63941004C>G	CA400613057	SCN4A	c.5278G>C (p.Gly1760Arg)
17	g.63941004C>T	CA8708792	SCN4A	c.5278G>A (p.Gly1760Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63941005G>A	CA8708793	SCN4A	c.5277C>T (p.Asp1759=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941005G>C	CA8708794	SCN4A	c.5277C>G (p.Asp1759Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941005G=	CA2270160716	SCN4A	c.5277C= (p.Asp1759=)
17	g.63941005G>T	CA400613062	SCN4A	c.5277C>A (p.Asp1759Glu)
17	g.63941006T>A	CA400613065	SCN4A	c.5276A>T (p.Asp1759Val)
17	g.63941006T>C	CA400613066	SCN4A	c.5276A>G (p.Asp1759Gly)
17	g.63941006T>G	CA400613068	SCN4A	c.5276A>C (p.Asp1759Ala)
17	g.63941007C>A	CA292956342	SCN4A	c.5275G>T (p.Asp1759Tyr)	dbSNP
17	g.63941007C=	CA2270160717	SCN4A	c.5275G= (p.Asp1759=)
17	g.63941007C>G	CA400613070	SCN4A	c.5275G>C (p.Asp1759His)
17	g.63941007C>T	CA400613072	SCN4A	c.5275G>A (p.Asp1759Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941008G>A	CA8708795	SCN4A	c.5274C>T (p.His1758=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941008G>C	CA400613076	SCN4A	c.5274C>G (p.His1758Gln)
17	g.63941008G=	CA2270160718	SCN4A	c.5274C= (p.His1758=)
17	g.63941008G>T	CA400613078	SCN4A	c.5274C>A (p.His1758Gln)	dbSNP
17	g.63941009T>A	CA400613081	SCN4A	c.5273A>T (p.His1758Leu)
17	g.63941009T>C	CA400613084	SCN4A	c.5273A>G (p.His1758Arg)
17	g.63941009T>G	CA400613085	SCN4A	c.5273A>C (p.His1758Pro)
17	g.63941010G>A	CA400613091	SCN4A	c.5272C>T (p.His1758Tyr)
17	g.63941010G>C	CA400613088	SCN4A	c.5272C>G (p.His1758Asp)	gnomAD v4
17	g.63941010G>T	CA400613089	SCN4A	c.5272C>A (p.His1758Asn)
17	g.63941011G>A	CA501347871	SCN4A	c.5271C>T (p.Ser1757=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941011G>C	CA400613094	SCN4A	c.5271C>G (p.Ser1757Arg)
17	g.63941011G=	CA2270160719	SCN4A	c.5271C= (p.Ser1757=)
17	g.63941011G>T	CA400613096	SCN4A	c.5271C>A (p.Ser1757Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.63941012C>A	CA400613099	SCN4A	c.5270G>T (p.Ser1757Ile)
17	g.63941012C>G	CA400613102	SCN4A	c.5270G>C (p.Ser1757Thr)
17	g.63941012C>T	CA400613104	SCN4A	c.5270G>A (p.Ser1757Asn)	gnomAD v4
17	g.63941013T>A	CA400613111	SCN4A	c.5269A>T (p.Ser1757Cys)
17	g.63941013T>C	CA400613106	SCN4A	c.5269A>G (p.Ser1757Gly)
17	g.63941013T>G	CA400613108	SCN4A	c.5269A>C (p.Ser1757Arg)
17	g.63941013T=	CA2270160720	SCN4A	c.5269A= (p.Ser1757=)
17	g.63941014G>A	CA501347880	SCN4A	c.5268C>T (p.His1756=)
17	g.63941014G>C	CA400613115	SCN4A	c.5268C>G (p.His1756Gln)
17	g.63941014G>T	CA400613117	SCN4A	c.5268C>A (p.His1756Gln)	COSMIC
17	g.63941014_63941015insGGGGG	CA292956347	SCN4A	c.5268_5269insCCCCC (p.Ser1757ProfsTer22)	dbSNP
17	g.63941015T>A	CA400613121	SCN4A	c.5267A>T (p.His1756Leu)
17	g.63941015T>C	CA400613123	SCN4A	c.5267A>G (p.His1756Arg)
17	g.63941015T>G	CA8708796	SCN4A	c.5267A>C (p.His1756Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941015T=	CA2270160721	SCN4A	c.5267A= (p.His1756=)
17	g.63941016G>A	CA400613127	SCN4A	c.5266C>T (p.His1756Tyr)
17	g.63941016G>C	CA400613129	SCN4A	c.5266C>G (p.His1756Asp)
17	g.63941016G>T	CA400613131	SCN4A	c.5266C>A (p.His1756Asn)
17	g.63941017G>A	CA501347889	SCN4A	c.5265C>T (p.Arg1755=)
17	g.63941017G>C	CA501347891	SCN4A	c.5265C>G (p.Arg1755=)
17	g.63941017G=	CA2270160722	SCN4A	c.5265C= (p.Arg1755=)
17	g.63941017G>T	CA501347895	SCN4A	c.5265C>A (p.Arg1755=)	dbSNP
17	g.63941018C>A	CA400613134	SCN4A	c.5264G>T (p.Arg1755Leu)	ClinVar gnomAD v4
17	g.63941018C=	CA2270160723	SCN4A	c.5264G= (p.Arg1755=)
17	g.63941018C>G	CA8708797	SCN4A	c.5264G>C (p.Arg1755Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941018C>T	CA8708798	SCN4A	c.5264G>A (p.Arg1755His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941019G>A	CA8708799	SCN4A	c.5263C>T (p.Arg1755Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941019G>C	CA400613142	SCN4A	c.5263C>G (p.Arg1755Gly)
17	g.63941019G=	CA2270160724	SCN4A	c.5263C= (p.Arg1755=)
17	g.63941019G>T	CA400613140	SCN4A	c.5263C>A (p.Arg1755Ser)
17	g.63941020G>A	CA501347903	SCN4A	c.5262C>T (p.Tyr1754=)	gnomAD v4
17	g.63941020G>C	CA400613145	SCN4A	c.5262C>G (p.Tyr1754Ter)
17	g.63941020G>T	CA400613147	SCN4A	c.5262C>A (p.Tyr1754Ter)
17	g.63941020_63941025delinsGTACAT	CA2270160725	SCN4A	c.5257_5262delinsATGTAC (p.Met1753=)
17	g.63941021T>A	CA400613150	SCN4A	c.5261A>T (p.Tyr1754Phe)
17	g.63941021T>C	CA400613152	SCN4A	c.5261A>G (p.Tyr1754Cys)
17	g.63941021T>G	CA400613155	SCN4A	c.5261A>C (p.Tyr1754Ser)	dbSNP
17	g.63941021T=	CA2270160726	SCN4A	c.5261A= (p.Tyr1754=)
17	g.63941021_63941025del	CA919876629	SCN4A	c.5257_5261del (p.Met1753ProfsTer10)	dbSNP
17	g.63941022A>C	CA400613157	SCN4A	c.5260T>G (p.Tyr1754Asp)
17	g.63941022A>G	CA400613159	SCN4A	c.5260T>C (p.Tyr1754His)
17	g.63941022A>T	CA400613161	SCN4A	c.5260T>A (p.Tyr1754Asn)
17	g.63941023C>A	CA400613164	SCN4A	c.5259G>T (p.Met1753Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941023C=	CA2270160727	SCN4A	c.5259G= (p.Met1753=)
17	g.63941023C>G	CA400613165	SCN4A	c.5259G>C (p.Met1753Ile)
17	g.63941023C>T	CA400613167	SCN4A	c.5259G>A (p.Met1753Ile)
17	g.63941024A=	CA2270160729	SCN4A	c.5258T= (p.Met1753=)
17	g.63941024A>C	CA400613171	SCN4A	c.5258T>G (p.Met1753Arg)
17	g.63941024A>G	CA400613173	SCN4A	c.5258T>C (p.Met1753Thr)	ClinVar dbSNP gnomAD v4
17	g.63941024A>T	CA400613176	SCN4A	c.5258T>A (p.Met1753Lys)
17	g.63941024_63941025delinsAT	CA2270160728	SCN4A	c.5257_5258delinsAT (p.Met1753=)
17	g.63941025del	CA919876630	SCN4A	c.5257del (p.Met1753CysfsTer24)	dbSNP
17	g.63941025T>A	CA400613183	SCN4A	c.5257A>T (p.Met1753Leu)
17	g.63941025T>C	CA400613178	SCN4A	c.5257A>G (p.Met1753Val)	gnomAD v4
17	g.63941025T>G	CA400613181	SCN4A	c.5257A>C (p.Met1753Leu)	gnomAD v4
17	g.63941026G>A	CA501347915	SCN4A	c.5256C>T (p.Tyr1752=)
17	g.63941026G>C	CA400613186	SCN4A	c.5256C>G (p.Tyr1752Ter)
17	g.63941026G>T	CA400613188	SCN4A	c.5256C>A (p.Tyr1752Ter)
17	g.63941026_63941028delinsGTA	CA2270160730	SCN4A	c.5254_5256delinsTAC (p.Tyr1752=)
17	g.63941027T>A	CA400613189	SCN4A	c.5255A>T (p.Tyr1752Phe)
17	g.63941027T>C	CA400613191	SCN4A	c.5255A>G (p.Tyr1752Cys)	gnomAD v4
17	g.63941027T>G	CA400613193	SCN4A	c.5255A>C (p.Tyr1752Ser)
17	g.63941027_63941028del	CA919876633	SCN4A	c.5254_5255del (p.Tyr1752HisfsTer12)	dbSNP
17	g.63941028A>C	CA400613197	SCN4A	c.5254T>G (p.Tyr1752Asp)
17	g.63941028A>G	CA400613199	SCN4A	c.5254T>C (p.Tyr1752His)	ClinVar
17	g.63941028A>T	CA400613201	SCN4A	c.5254T>A (p.Tyr1752Asn)
17	g.63941029G>A	CA501347926	SCN4A	c.5253C>T (p.Ser1751=)
17	g.63941029G>C	CA501347924	SCN4A	c.5253C>G (p.Ser1751=)
17	g.63941029G>T	CA501347922	SCN4A	c.5253C>A (p.Ser1751=)
17	g.63941030G>A	CA400613204	SCN4A	c.5252C>T (p.Ser1751Phe)
17	g.63941030G>C	CA400613207	SCN4A	c.5252C>G (p.Ser1751Cys)
17	g.63941030G>T	CA400613208	SCN4A	c.5252C>A (p.Ser1751Tyr)
17	g.63941031A=	CA2270160731	SCN4A	c.5251T= (p.Ser1751=)
17	g.63941031A>C	CA8708801	SCN4A	c.5251T>G (p.Ser1751Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941031A>G	CA400613212	SCN4A	c.5251T>C (p.Ser1751Pro)
17	g.63941031A>T	CA8708800	SCN4A	c.5251T>A (p.Ser1751Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941032T>A	CA501347934	SCN4A	c.5250A>T (p.Ala1750=)	gnomAD v4
17	g.63941032T>C	CA501347939	SCN4A	c.5250A>G (p.Ala1750=)	COSMIC
17	g.63941032T>G	CA501347938	SCN4A	c.5250A>C (p.Ala1750=)
17	g.63941033G>A	CA8708802	SCN4A	c.5249C>T (p.Ala1750Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941033G>C	CA400613216	SCN4A	c.5249C>G (p.Ala1750Gly)
17	g.63941033G=	CA2270160732	SCN4A	c.5249C= (p.Ala1750=)
17	g.63941033G>T	CA400613218	SCN4A	c.5249C>A (p.Ala1750Glu)
17	g.63941034C>A	CA400613221	SCN4A	c.5248G>T (p.Ala1750Ser)	dbSNP
17	g.63941034C=	CA2270160733	SCN4A	c.5248G= (p.Ala1750=)
17	g.63941034C>G	CA400613223	SCN4A	c.5248G>C (p.Ala1750Pro)	dbSNP
17	g.63941034C>T	CA400613225	SCN4A	c.5248G>A (p.Ala1750Thr)	ClinVar
17	g.63941035C>A	CA400613228	SCN4A	c.5247G>T (p.Gln1749His)
17	g.63941035C=	CA2270160734	SCN4A	c.5247G= (p.Gln1749=)
17	g.63941035C>G	CA400613230	SCN4A	c.5247G>C (p.Gln1749His)	COSMIC
17	g.63941035C>T	CA501347947	SCN4A	c.5247G>A (p.Gln1749=)	dbSNP
17	g.63941036T>A	CA400613233	SCN4A	c.5246A>T (p.Gln1749Leu)
17	g.63941036T>C	CA400613236	SCN4A	c.5246A>G (p.Gln1749Arg)
17	g.63941036T>G	CA400613238	SCN4A	c.5246A>C (p.Gln1749Pro)
17	g.63941037G>A	CA400613241	SCN4A	c.5245C>T (p.Gln1749Ter)
17	g.63941037G>C	CA400613243	SCN4A	c.5245C>G (p.Gln1749Glu)
17	g.63941037G>T	CA400613245	SCN4A	c.5245C>A (p.Gln1749Lys)
17	g.63941038C>A	CA400613248	SCN4A	c.5244G>T (p.Lys1748Asn)
17	g.63941038C>G	CA400613250	SCN4A	c.5244G>C (p.Lys1748Asn)	gnomAD v4
17	g.63941038C>T	CA501347959	SCN4A	c.5244G>A (p.Lys1748=)
17	g.63941039T>A	CA400613253	SCN4A	c.5243A>T (p.Lys1748Met)
17	g.63941039T>C	CA400613256	SCN4A	c.5243A>G (p.Lys1748Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941039T>G	CA400613258	SCN4A	c.5243A>C (p.Lys1748Thr)
17	g.63941039T=	CA2270160735	SCN4A	c.5243A= (p.Lys1748=)
17	g.63941040T>A	CA400613261	SCN4A	c.5242A>T (p.Lys1748Ter)	dbSNP
17	g.63941040T>C	CA400613263	SCN4A	c.5242A>G (p.Lys1748Glu)
17	g.63941040T>G	CA400613265	SCN4A	c.5242A>C (p.Lys1748Gln)
17	g.63941040T=	CA2270160736	SCN4A	c.5242A= (p.Lys1748=)
17	g.63941041C>A	CA400613267	SCN4A	c.5241G>T (p.Met1747Ile)
17	g.63941041C>G	CA400613270	SCN4A	c.5241G>C (p.Met1747Ile)
17	g.63941041C>T	CA400613272	SCN4A	c.5241G>A (p.Met1747Ile)	COSMIC
17	g.63941042A=	CA2270160737	SCN4A	c.5240T= (p.Met1747=)
17	g.63941042A>C	CA400613275	SCN4A	c.5240T>G (p.Met1747Arg)
17	g.63941042A>G	CA8708803	SCN4A	c.5240T>C (p.Met1747Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941042A>T	CA400613278	SCN4A	c.5240T>A (p.Met1747Lys)
17	g.63941043T>A	CA400613282	SCN4A	c.5239A>T (p.Met1747Leu)
17	g.63941043T>C	CA8708804	SCN4A	c.5239A>G (p.Met1747Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941043T>G	CA400613284	SCN4A	c.5239A>C (p.Met1747Leu)
17	g.63941043T=	CA2270160738	SCN4A	c.5239A= (p.Met1747=)
17	g.63941044G>A	CA501347969	SCN4A	c.5238C>T (p.Ser1746=)	gnomAD v4
17	g.63941044G>C	CA501347970	SCN4A	c.5238C>G (p.Ser1746=)
17	g.63941044G>T	CA501347973	SCN4A	c.5238C>A (p.Ser1746=)
17	g.63941045G>A	CA8708805	SCN4A	c.5237C>T (p.Ser1746Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941045G>C	CA400613292	SCN4A	c.5237C>G (p.Ser1746Cys)
17	g.63941045G=	CA2270160739	SCN4A	c.5237C= (p.Ser1746=)
17	g.63941045G>T	CA400613290	SCN4A	c.5237C>A (p.Ser1746Tyr)
17	g.63941046A=	CA2270160740	SCN4A	c.5236T= (p.Ser1746=)
17	g.63941046A>C	CA400613296	SCN4A	c.5236T>G (p.Ser1746Ala)
17	g.63941046A>G	CA400613301	SCN4A	c.5236T>C (p.Ser1746Pro)	dbSNP gnomAD v4
17	g.63941046A>T	CA400613298	SCN4A	c.5236T>A (p.Ser1746Thr)

Number of alleles fetched