Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
17	g.63941047G>A	CA501347991	SCN4A	c.5235C>T (p.Arg1745=)	dbSNP
17	g.63941047G>C	CA501347996	SCN4A	c.5235C>G (p.Arg1745=)
17	g.63941047G=	CA2270160741	SCN4A	c.5235C= (p.Arg1745=)
17	g.63941047G>T	CA501347998	SCN4A	c.5235C>A (p.Arg1745=)
17	g.63941048C>A	CA400613304	SCN4A	c.5234G>T (p.Arg1745Leu)	dbSNP gnomAD v3 gnomAD v4 COSMIC
17	g.63941048C=	CA2270160742	SCN4A	c.5234G= (p.Arg1745=)
17	g.63941048C>G	CA400613306	SCN4A	c.5234G>C (p.Arg1745Pro)
17	g.63941048C>T	CA8708806	SCN4A	c.5234G>A (p.Arg1745His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941049G>A	CA8708807	SCN4A	c.5233C>T (p.Arg1745Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941049G>C	CA400613311	SCN4A	c.5233C>G (p.Arg1745Gly)	dbSNP gnomAD v3 gnomAD v4
17	g.63941049G=	CA2270160743	SCN4A	c.5233C= (p.Arg1745=)
17	g.63941049G>T	CA400613313	SCN4A	c.5233C>A (p.Arg1745Ser)
17	g.63941050C>A	CA400613318	SCN4A	c.5232G>T (p.Gln1744His)
17	g.63941050C=	CA2270160744	SCN4A	c.5232G= (p.Gln1744=)
17	g.63941050C>G	CA400613316	SCN4A	c.5232G>C (p.Gln1744His)
17	g.63941050C>T	CA292956429	SCN4A	c.5232G>A (p.Gln1744=)	dbSNP
17	g.63941051T>A	CA8708808	SCN4A	c.5231A>T (p.Gln1744Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941051T>C	CA400613322	SCN4A	c.5231A>G (p.Gln1744Arg)	gnomAD v4
17	g.63941051T>G	CA400613325	SCN4A	c.5231A>C (p.Gln1744Pro)
17	g.63941051T=	CA2270160745	SCN4A	c.5231A= (p.Gln1744=)
17	g.63941052G>A	CA400613327	SCN4A	c.5230C>T (p.Gln1744Ter)	dbSNP
17	g.63941052G>C	CA400613330	SCN4A	c.5230C>G (p.Gln1744Glu)
17	g.63941052G=	CA2270160746	SCN4A	c.5230C= (p.Gln1744=)
17	g.63941052G>T	CA400613332	SCN4A	c.5230C>A (p.Gln1744Lys)
17	g.63941053T>A	CA501348016	SCN4A	c.5229A>T (p.Leu1743=)
17	g.63941053T>C	CA501348015	SCN4A	c.5229A>G (p.Leu1743=)	ClinVar dbSNP COSMIC
17	g.63941053T>G	CA501348014	SCN4A	c.5229A>C (p.Leu1743=)
17	g.63941053T=	CA2270160747	SCN4A	c.5229A= (p.Leu1743=)
17	g.63941054A>C	CA400613335	SCN4A	c.5228T>G (p.Leu1743Arg)
17	g.63941054A>G	CA400613338	SCN4A	c.5228T>C (p.Leu1743Pro)	gnomAD v4
17	g.63941054A>T	CA400613336	SCN4A	c.5228T>A (p.Leu1743Gln)
17	g.63941055G>A	CA8708809	SCN4A	c.5227C>T (p.Leu1743=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941055G>C	CA400613342	SCN4A	c.5227C>G (p.Leu1743Val)
17	g.63941055G=	CA2270160748	SCN4A	c.5227C= (p.Leu1743=)
17	g.63941055G>T	CA400613345	SCN4A	c.5227C>A (p.Leu1743Ile)
17	g.63941056C>A	CA501348022	SCN4A	c.5226G>T (p.Leu1742=)
17	g.63941056C=	CA2270160749	SCN4A	c.5226G= (p.Leu1742=)
17	g.63941056C>G	CA501348024	SCN4A	c.5226G>C (p.Leu1742=)	gnomAD v4
17	g.63941056C>T	CA501348026	SCN4A	c.5226G>A (p.Leu1742=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941058_63941096dup	CA2639322252	SCN4A	c.5188_5226dup (p.Leu1742_Leu1743insCysAlaIleLysIleGlnArgAlaTyrArgArgHisLeu)	gnomAD v4
17	g.63941057A>C	CA400613348	SCN4A	c.5225T>G (p.Leu1742Arg)
17	g.63941057A>G	CA400613350	SCN4A	c.5225T>C (p.Leu1742Pro)
17	g.63941057A>T	CA400613352	SCN4A	c.5225T>A (p.Leu1742Gln)
17	g.63941058G>A	CA292956434	SCN4A	c.5224C>T (p.Leu1742=)	dbSNP
17	g.63941058G>C	CA400613355	SCN4A	c.5224C>G (p.Leu1742Val)
17	g.63941058G=	CA2270160750	SCN4A	c.5224C= (p.Leu1742=)
17	g.63941058G>T	CA400613357	SCN4A	c.5224C>A (p.Leu1742Met)
17	g.63941059G>A	CA501348035	SCN4A	c.5223C>T (p.His1741=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941059G>C	CA400613360	SCN4A	c.5223C>G (p.His1741Gln)
17	g.63941059G=	CA2270160751	SCN4A	c.5223C= (p.His1741=)
17	g.63941059G>T	CA400613363	SCN4A	c.5223C>A (p.His1741Gln)
17	g.63941060T>A	CA400613366	SCN4A	c.5222A>T (p.His1741Leu)
17	g.63941060T>C	CA400613370	SCN4A	c.5222A>G (p.His1741Arg)	ClinVar
17	g.63941060T>G	CA400613368	SCN4A	c.5222A>C (p.His1741Pro)
17	g.63941061G>A	CA8708810	SCN4A	c.5221C>T (p.His1741Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941061G>C	CA400613374	SCN4A	c.5221C>G (p.His1741Asp)
17	g.63941061G=	CA2270160752	SCN4A	c.5221C= (p.His1741=)
17	g.63941061G>T	CA400613377	SCN4A	c.5221C>A (p.His1741Asn)	ClinVar
17	g.63941062C>A	CA501348044	SCN4A	c.5220G>T (p.Arg1740=)
17	g.63941062C=	CA2270160753	SCN4A	c.5220G= (p.Arg1740=)
17	g.63941062C>G	CA501348045	SCN4A	c.5220G>C (p.Arg1740=)
17	g.63941062C>T	CA8708811	SCN4A	c.5220G>A (p.Arg1740=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941063C>A	CA400613380	SCN4A	c.5219G>T (p.Arg1740Leu)
17	g.63941063C=	CA2270160754	SCN4A	c.5219G= (p.Arg1740=)
17	g.63941063C>G	CA400613382	SCN4A	c.5219G>C (p.Arg1740Pro)
17	g.63941063C>T	CA400613385	SCN4A	c.5219G>A (p.Arg1740Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63941064G>A	CA8708812	SCN4A	c.5218C>T (p.Arg1740Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941064G>C	CA400613389	SCN4A	c.5218C>G (p.Arg1740Gly)
17	g.63941064G=	CA2270160755	SCN4A	c.5218C= (p.Arg1740=)
17	g.63941064G>T	CA292956442	SCN4A	c.5218C>A (p.Arg1740=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63941065G>A	CA501348055	SCN4A	c.5217C>T (p.Arg1739=)
17	g.63941065G>C	CA501348057	SCN4A	c.5217C>G (p.Arg1739=)
17	g.63941065G>T	CA501348056	SCN4A	c.5217C>A (p.Arg1739=)
17	g.63941066C>A	CA400613398	SCN4A	c.5216G>T (p.Arg1739Leu)	ClinVar dbSNP gnomAD v4
17	g.63941066C=	CA2270160756	SCN4A	c.5216G= (p.Arg1739=)
17	g.63941066C>G	CA400613396	SCN4A	c.5216G>C (p.Arg1739Pro)
17	g.63941066C>T	CA400613394	SCN4A	c.5216G>A (p.Arg1739His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941067G>A	CA400613401	SCN4A	c.5215C>T (p.Arg1739Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941067G>C	CA400613403	SCN4A	c.5215C>G (p.Arg1739Gly)
17	g.63941067G=	CA2270160757	SCN4A	c.5215C= (p.Arg1739=)
17	g.63941067G>T	CA400613406	SCN4A	c.5215C>A (p.Arg1739Ser)
17	g.63941068G>A	CA8708813	SCN4A	c.5214C>T (p.Tyr1738=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941068G>C	CA400613410	SCN4A	c.5214C>G (p.Tyr1738Ter)
17	g.63941068G=	CA2270160758	SCN4A	c.5214C= (p.Tyr1738=)
17	g.63941068G>T	CA400613413	SCN4A	c.5214C>A (p.Tyr1738Ter)
17	g.63941069T>A	CA400613416	SCN4A	c.5213A>T (p.Tyr1738Phe)
17	g.63941069T>C	CA400613418	SCN4A	c.5213A>G (p.Tyr1738Cys)	gnomAD v4
17	g.63941069T>G	CA400613420	SCN4A	c.5213A>C (p.Tyr1738Ser)
17	g.63941070A=	CA2270160759	SCN4A	c.5212T= (p.Tyr1738=)
17	g.63941070A>C	CA8708814	SCN4A	c.5212T>G (p.Tyr1738Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941070A>G	CA400613425	SCN4A	c.5212T>C (p.Tyr1738His)
17	g.63941070A>T	CA400613426	SCN4A	c.5212T>A (p.Tyr1738Asn)
17	g.63941071G>A	CA501348072	SCN4A	c.5211C>T (p.Ala1737=)	gnomAD v4
17	g.63941071G>C	CA501348073	SCN4A	c.5211C>G (p.Ala1737=)
17	g.63941071G>T	CA501348074	SCN4A	c.5211C>A (p.Ala1737=)	dbSNP gnomAD v4
17	g.63941072G>A	CA8708815	SCN4A	c.5210C>T (p.Ala1737Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941072G>C	CA400613431	SCN4A	c.5210C>G (p.Ala1737Gly)
17	g.63941072G=	CA2270160760	SCN4A	c.5210C= (p.Ala1737=)
17	g.63941072G>T	CA400613428	SCN4A	c.5210C>A (p.Ala1737Asp)
17	g.63941073C>A	CA400613436	SCN4A	c.5209G>T (p.Ala1737Ser)
17	g.63941073C=	CA2270160761	SCN4A	c.5209G= (p.Ala1737=)
17	g.63941073C>G	CA400613434	SCN4A	c.5209G>C (p.Ala1737Pro)
17	g.63941073C>T	CA8708816	SCN4A	c.5209G>A (p.Ala1737Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941074C>A	CA400613439	SCN4A	c.5208G>T (p.Arg1736Ser)
17	g.63941074C>G	CA400613440	SCN4A	c.5208G>C (p.Arg1736Ser)
17	g.63941074C>T	CA501348081	SCN4A	c.5208G>A (p.Arg1736=)	ClinVar
17	g.63941075C>A	CA400613442	SCN4A	c.5207G>T (p.Arg1736Met)
17	g.63941075C=	CA2270160762	SCN4A	c.5207G= (p.Arg1736=)
17	g.63941075C>G	CA400613445	SCN4A	c.5207G>C (p.Arg1736Thr)
17	g.63941075C>T	CA8708817	SCN4A	c.5207G>A (p.Arg1736Lys)	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched