Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166280515A=CA1304965807SCN1A-AS1,SCN9Ac.2185T= (p.Tyr729=)
c.2152T= (p.Tyr718=)
c.1187T=
n.1029+3268A=
c.1798T= (p.Tyr600=)
c.1441T= (p.Tyr481=)
n.2499T=
2g.166280515A>CCA349079777SCN1A-AS1,SCN9Ac.2185T>G (p.Tyr729Asp)
c.2152T>G (p.Tyr718Asp)
c.1187T>G
n.1029+3268A>C
c.1798T>G (p.Tyr600Asp)
c.1441T>G (p.Tyr481Asp)
n.2499T>G
2g.166280515A>GCA349079778SCN1A-AS1,SCN9Ac.2185T>C (p.Tyr729His)
c.2152T>C (p.Tyr718His)
c.1187T>C
n.1029+3268A>G
c.1798T>C (p.Tyr600His)
c.1441T>C (p.Tyr481His)
n.2499T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166280515A>TCA1944312SCN1A-AS1,SCN9Ac.2185T>A (p.Tyr729Asn)
c.2152T>A (p.Tyr718Asn)
c.1187T>A
n.1029+3268A>T
c.1798T>A (p.Tyr600Asn)
c.1441T>A (p.Tyr481Asn)
n.2499T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280516T>ACA429902512SCN1A-AS1,SCN9Ac.2184A>T (p.Pro728=)
c.2151A>T (p.Pro717=)
c.1186A>T
n.1029+3269T>A
c.1797A>T (p.Pro599=)
c.1440A>T (p.Pro480=)
n.2498A>T
2g.166280516T>CCA429902513SCN1A-AS1,SCN9Ac.2184A>G (p.Pro728=)
c.2151A>G (p.Pro717=)
c.1186A>G
n.1029+3269T>C
c.1797A>G (p.Pro599=)
c.1440A>G (p.Pro480=)
n.2498A>G
 COSMIC COSMIC
2g.166280516T>GCA429902514SCN1A-AS1,SCN9Ac.2184A>C (p.Pro728=)
c.2151A>C (p.Pro717=)
c.1186A>C
n.1029+3269T>G
c.1797A>C (p.Pro599=)
c.1440A>C (p.Pro480=)
n.2498A>C
 gnomAD v4
2g.166280517G>ACA349079779SCN1A-AS1,SCN9Ac.2183C>T (p.Pro728Leu)
c.2150C>T (p.Pro717Leu)
c.1185C>T
n.1029+3270G>A
c.1796C>T (p.Pro599Leu)
c.1439C>T (p.Pro480Leu)
n.2497C>T
 gnomAD v4
2g.166280517G>CCA349079781SCN1A-AS1,SCN9Ac.2183C>G (p.Pro728Arg)
c.2150C>G (p.Pro717Arg)
c.1185C>G
n.1029+3270G>C
c.1796C>G (p.Pro599Arg)
c.1439C>G (p.Pro480Arg)
n.2497C>G
2g.166280517G>TCA349079780SCN1A-AS1,SCN9Ac.2183C>A (p.Pro728Gln)
c.2150C>A (p.Pro717Gln)
c.1185C>A
n.1029+3270G>T
c.1796C>A (p.Pro599Gln)
c.1439C>A (p.Pro480Gln)
n.2497C>A
 gnomAD v4
2g.166280518G>ACA59796664SCN1A-AS1,SCN9Ac.2182C>T (p.Pro728Ser)
c.2149C>T (p.Pro717Ser)
c.1184C>T
n.1029+3271G>A
c.1795C>T (p.Pro599Ser)
c.1438C>T (p.Pro480Ser)
n.2496C>T
 dbSNP gnomAD v4
2g.166280518G>CCA349079782SCN1A-AS1,SCN9Ac.2182C>G (p.Pro728Ala)
c.2149C>G (p.Pro717Ala)
c.1184C>G
n.1029+3271G>C
c.1795C>G (p.Pro599Ala)
c.1438C>G (p.Pro480Ala)
n.2496C>G
2g.166280518G=CA1304965809SCN1A-AS1,SCN9Ac.2182C= (p.Pro728=)
c.2149C= (p.Pro717=)
c.1184C=
n.1029+3271G=
c.1795C= (p.Pro599=)
c.1438C= (p.Pro480=)
n.2496C=
2g.166280518G>TCA349079783SCN1A-AS1,SCN9Ac.2182C>A (p.Pro728Thr)
c.2149C>A (p.Pro717Thr)
c.1184C>A
n.1029+3271G>T
c.1795C>A (p.Pro599Thr)
c.1438C>A (p.Pro480Thr)
n.2496C>A
 gnomAD v4
2g.166280519A>CCA429902519SCN1A-AS1,SCN9Ac.2181T>G (p.Ser727=)
c.2148T>G (p.Ser716=)
c.1183T>G
n.1029+3272A>C
c.1794T>G (p.Ser598=)
c.1437T>G (p.Ser479=)
n.2495T>G
2g.166280519A>GCA429902520SCN1A-AS1,SCN9Ac.2181T>C (p.Ser727=)
c.2148T>C (p.Ser716=)
c.1183T>C
n.1029+3272A>G
c.1794T>C (p.Ser598=)
c.1437T>C (p.Ser479=)
n.2495T>C
2g.166280519A>TCA429902521SCN1A-AS1,SCN9Ac.2181T>A (p.Ser727=)
c.2148T>A (p.Ser716=)
c.1183T>A
n.1029+3272A>T
c.1794T>A (p.Ser598=)
c.1437T>A (p.Ser479=)
n.2495T>A
2g.166280520G>ACA349079784SCN1A-AS1,SCN9Ac.2180C>T (p.Ser727Phe)
c.2147C>T (p.Ser716Phe)
c.1182C>T
n.1029+3273G>A
c.1793C>T (p.Ser598Phe)
c.1436C>T (p.Ser479Phe)
n.2494C>T
 gnomAD v4
2g.166280520G>CCA1944313SCN1A-AS1,SCN9Ac.2180C>G (p.Ser727Cys)
c.2147C>G (p.Ser716Cys)
c.1182C>G
n.1029+3273G>C
c.1793C>G (p.Ser598Cys)
c.1436C>G (p.Ser479Cys)
n.2494C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280520G=CA1304965811SCN1A-AS1,SCN9Ac.2180C= (p.Ser727=)
c.2147C= (p.Ser716=)
c.1182C=
n.1029+3273G=
c.1793C= (p.Ser598=)
c.1436C= (p.Ser479=)
n.2494C=
2g.166280520G>TCA349079785SCN1A-AS1,SCN9Ac.2180C>A (p.Ser727Tyr)
c.2147C>A (p.Ser716Tyr)
c.1182C>A
n.1029+3273G>T
c.1793C>A (p.Ser598Tyr)
c.1436C>A (p.Ser479Tyr)
n.2494C>A
 gnomAD v4
2g.166280521A>CCA349079786SCN1A-AS1,SCN9Ac.2179T>G (p.Ser727Ala)
c.2146T>G (p.Ser716Ala)
c.1181T>G
n.1029+3274A>C
c.1792T>G (p.Ser598Ala)
c.1435T>G (p.Ser479Ala)
n.2493T>G
2g.166280521A>GCA349079787SCN1A-AS1,SCN9Ac.2179T>C (p.Ser727Pro)
c.2146T>C (p.Ser716Pro)
c.1181T>C
n.1029+3274A>G
c.1792T>C (p.Ser598Pro)
c.1435T>C (p.Ser479Pro)
n.2493T>C
2g.166280521A>TCA349079788SCN1A-AS1,SCN9Ac.2179T>A (p.Ser727Thr)
c.2146T>A (p.Ser716Thr)
c.1181T>A
n.1029+3274A>T
c.1792T>A (p.Ser598Thr)
c.1435T>A (p.Ser479Thr)
n.2493T>A
 gnomAD v4
2g.166280522G>ACA1944314SCN1A-AS1,SCN9Ac.2178C>T (p.Cys726=)
c.2145C>T (p.Cys715=)
c.1180C>T
n.1029+3275G>A
c.1791C>T (p.Cys597=)
c.1434C>T (p.Cys478=)
n.2492C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280522G>CCA349079790SCN1A-AS1,SCN9Ac.2178C>G (p.Cys726Trp)
c.2145C>G (p.Cys715Trp)
c.1180C>G
n.1029+3275G>C
c.1791C>G (p.Cys597Trp)
c.1434C>G (p.Cys478Trp)
n.2492C>G
2g.166280522G=CA1304965812SCN1A-AS1,SCN9Ac.2178C= (p.Cys726=)
c.2145C= (p.Cys715=)
c.1180C=
n.1029+3275G=
c.1791C= (p.Cys597=)
c.1434C= (p.Cys478=)
n.2492C=
2g.166280522G>TCA349079789SCN1A-AS1,SCN9Ac.2178C>A (p.Cys726Ter)
c.2145C>A (p.Cys715Ter)
c.1180C>A
n.1029+3275G>T
c.1791C>A (p.Cys597Ter)
c.1434C>A (p.Cys478Ter)
n.2492C>A
 dbSNP gnomAD v4
2g.166280523C>ACA349079791SCN1A-AS1,SCN9Ac.2177G>T (p.Cys726Phe)
c.2144G>T (p.Cys715Phe)
c.1179G>T
n.1029+3276C>A
c.1790G>T (p.Cys597Phe)
c.1433G>T (p.Cys478Phe)
n.2491G>T
 gnomAD v4
2g.166280523C>GCA349079792SCN1A-AS1,SCN9Ac.2177G>C (p.Cys726Ser)
c.2144G>C (p.Cys715Ser)
c.1179G>C
n.1029+3276C>G
c.1790G>C (p.Cys597Ser)
c.1433G>C (p.Cys478Ser)
n.2491G>C
2g.166280523C>TCA349079793SCN1A-AS1,SCN9Ac.2177G>A (p.Cys726Tyr)
c.2144G>A (p.Cys715Tyr)
c.1179G>A
n.1029+3276C>T
c.1790G>A (p.Cys597Tyr)
c.1433G>A (p.Cys478Tyr)
n.2491G>A
 gnomAD v4
2g.166280524A>CCA349079794SCN1A-AS1,SCN9Ac.2176T>G (p.Cys726Gly)
c.2143T>G (p.Cys715Gly)
c.1178T>G
n.1029+3277A>C
c.1789T>G (p.Cys597Gly)
c.1432T>G (p.Cys478Gly)
n.2490T>G
2g.166280524A>GCA349079795SCN1A-AS1,SCN9Ac.2176T>C (p.Cys726Arg)
c.2143T>C (p.Cys715Arg)
c.1178T>C
n.1029+3277A>G
c.1789T>C (p.Cys597Arg)
c.1432T>C (p.Cys478Arg)
n.2490T>C
 gnomAD v4
2g.166280524A>TCA349079796SCN1A-AS1,SCN9Ac.2176T>A (p.Cys726Ser)
c.2143T>A (p.Cys715Ser)
c.1178T>A
n.1029+3277A>T
c.1789T>A (p.Cys597Ser)
c.1432T>A (p.Cys478Ser)
n.2490T>A
2g.166280525A>CCA349079797SCN1A-AS1,SCN9Ac.2175T>G (p.Asn725Lys)
c.2142T>G (p.Asn714Lys)
c.1177T>G
n.1029+3278A>C
c.1788T>G (p.Asn596Lys)
c.1431T>G (p.Asn477Lys)
n.2489T>G
2g.166280525A>GCA429902529SCN1A-AS1,SCN9Ac.2175T>C (p.Asn725=)
c.2142T>C (p.Asn714=)
c.1177T>C
n.1029+3278A>G
c.1788T>C (p.Asn596=)
c.1431T>C (p.Asn477=)
n.2489T>C
 gnomAD v4
2g.166280525A>TCA349079798SCN1A-AS1,SCN9Ac.2175T>A (p.Asn725Lys)
c.2142T>A (p.Asn714Lys)
c.1177T>A
n.1029+3278A>T
c.1788T>A (p.Asn596Lys)
c.1431T>A (p.Asn477Lys)
n.2489T>A
 ClinVar gnomAD v4
2g.166280526T>ACA349079799SCN1A-AS1,SCN9Ac.2174A>T (p.Asn725Ile)
c.2141A>T (p.Asn714Ile)
c.1176A>T
n.1029+3279T>A
c.1787A>T (p.Asn596Ile)
c.1430A>T (p.Asn477Ile)
n.2488A>T
2g.166280526T>CCA1944315SCN1A-AS1,SCN9Ac.2174A>G (p.Asn725Ser)
c.2141A>G (p.Asn714Ser)
c.1176A>G
n.1029+3279T>C
c.1787A>G (p.Asn596Ser)
c.1430A>G (p.Asn477Ser)
n.2488A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280526T>GCA349079800SCN1A-AS1,SCN9Ac.2174A>C (p.Asn725Thr)
c.2141A>C (p.Asn714Thr)
c.1176A>C
n.1029+3279T>G
c.1787A>C (p.Asn596Thr)
c.1430A>C (p.Asn477Thr)
n.2488A>C
2g.166280526T=CA1304965816SCN1A-AS1,SCN9Ac.2174A= (p.Asn725=)
c.2141A= (p.Asn714=)
c.1176A=
n.1029+3279T=
c.1787A= (p.Asn596=)
c.1430A= (p.Asn477=)
n.2488A=
2g.166280527delCA2661767712SCN1A-AS1,SCN9Ac.2174del (p.Asn725IlefsTer7)
c.2141del (p.Asn714IlefsTer7)
c.1176del
n.1029+3280del
c.1787del (p.Asn596IlefsTer7)
c.1430del (p.Asn477IlefsTer7)
n.2488del
 gnomAD v4
2g.166280527T>ACA349079802SCN1A-AS1,SCN9Ac.2173A>T (p.Asn725Tyr)
c.2140A>T (p.Asn714Tyr)
c.1175A>T
n.1029+3280T>A
c.1786A>T (p.Asn596Tyr)
c.1429A>T (p.Asn477Tyr)
n.2487A>T
 gnomAD v4
2g.166280527T>CCA349079803SCN1A-AS1,SCN9Ac.2173A>G (p.Asn725Asp)
c.2140A>G (p.Asn714Asp)
c.1175A>G
n.1029+3280T>C
c.1786A>G (p.Asn596Asp)
c.1429A>G (p.Asn477Asp)
n.2487A>G
2g.166280527T>GCA349079801SCN1A-AS1,SCN9Ac.2173A>C (p.Asn725His)
c.2140A>C (p.Asn714His)
c.1175A>C
n.1029+3280T>G
c.1786A>C (p.Asn596His)
c.1429A>C (p.Asn477His)
n.2487A>C
2g.166280528C>ACA349079804SCN1A-AS1,SCN9Ac.2172G>T (p.Trp724Cys)
c.2139G>T (p.Trp713Cys)
c.1174G>T
n.1029+3281C>A
c.1785G>T (p.Trp595Cys)
c.1428G>T (p.Trp476Cys)
n.2486G>T
 gnomAD v4
2g.166280528C=CA1304965818SCN1A-AS1,SCN9Ac.2172G= (p.Trp724=)
c.2139G= (p.Trp713=)
c.1174G=
n.1029+3281C=
c.1785G= (p.Trp595=)
c.1428G= (p.Trp476=)
n.2486G=
2g.166280528C>GCA349079805SCN1A-AS1,SCN9Ac.2172G>C (p.Trp724Cys)
c.2139G>C (p.Trp713Cys)
c.1174G>C
n.1029+3281C>G
c.1785G>C (p.Trp595Cys)
c.1428G>C (p.Trp476Cys)
n.2486G>C
2g.166280528C>TCA349079806SCN1A-AS1,SCN9Ac.2172G>A (p.Trp724Ter)
c.2139G>A (p.Trp713Ter)
c.1174G>A
n.1029+3281C>T
c.1785G>A (p.Trp595Ter)
c.1428G>A (p.Trp476Ter)
n.2486G>A
 dbSNP gnomAD v4
2g.166280529delCA2661767713SCN1A-AS1,SCN9Ac.2172del (p.Trp724Ter)
c.2139del (p.Trp713Ter)
c.1174del
n.1029+3282del
c.1785del (p.Trp595Ter)
c.1428del (p.Trp476Ter)
n.2486del
 gnomAD v4

Number of alleles fetched