Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166280406T>ACA349079525SCN1A-AS1,SCN9Ac.2294A>T (p.His765Leu)
c.2261A>T (p.His754Leu)
c.1296A>T
n.1029+3159T>A
c.1907A>T (p.His636Leu)
c.1550A>T (p.His517Leu)
n.2608A>T
2g.166280406T>CCA349079526SCN1A-AS1,SCN9Ac.2294A>G (p.His765Arg)
c.2261A>G (p.His754Arg)
c.1296A>G
n.1029+3159T>C
c.1907A>G (p.His636Arg)
c.1550A>G (p.His517Arg)
n.2608A>G
2g.166280406T>GCA349079527SCN1A-AS1,SCN9Ac.2294A>C (p.His765Pro)
c.2261A>C (p.His754Pro)
c.1296A>C
n.1029+3159T>G
c.1907A>C (p.His636Pro)
c.1550A>C (p.His517Pro)
n.2608A>C
2g.166280407G>ACA349079528SCN1A-AS1,SCN9Ac.2293C>T (p.His765Tyr)
c.2260C>T (p.His754Tyr)
c.1295C>T
n.1029+3160G>A
c.1906C>T (p.His636Tyr)
c.1549C>T (p.His517Tyr)
n.2607C>T
 gnomAD v4
2g.166280407G>CCA349079529SCN1A-AS1,SCN9Ac.2293C>G (p.His765Asp)
c.2260C>G (p.His754Asp)
c.1295C>G
n.1029+3160G>C
c.1906C>G (p.His636Asp)
c.1549C>G (p.His517Asp)
n.2607C>G
2g.166280407G>TCA349079530SCN1A-AS1,SCN9Ac.2293C>A (p.His765Asn)
c.2260C>A (p.His754Asn)
c.1295C>A
n.1029+3160G>T
c.1906C>A (p.His636Asn)
c.1549C>A (p.His517Asn)
n.2607C>A
2g.166280408T>ACA349079532SCN1A-AS1,SCN9Ac.2292A>T (p.Glu764Asp)
c.2259A>T (p.Glu753Asp)
c.1294A>T
n.1029+3161T>A
c.1905A>T (p.Glu635Asp)
c.1548A>T (p.Glu516Asp)
n.2606A>T
2g.166280408T>CCA429902205SCN1A-AS1,SCN9Ac.2292A>G (p.Glu764=)
c.2259A>G (p.Glu753=)
c.1294A>G
n.1029+3161T>C
c.1905A>G (p.Glu635=)
c.1548A>G (p.Glu516=)
n.2606A>G
 gnomAD v4
2g.166280408T>GCA349079531SCN1A-AS1,SCN9Ac.2292A>C (p.Glu764Asp)
c.2259A>C (p.Glu753Asp)
c.1294A>C
n.1029+3161T>G
c.1905A>C (p.Glu635Asp)
c.1548A>C (p.Glu516Asp)
n.2606A>C
2g.166280409T>ACA349079533SCN1A-AS1,SCN9Ac.2291A>T (p.Glu764Val)
c.2258A>T (p.Glu753Val)
c.1293A>T
n.1029+3162T>A
c.1904A>T (p.Glu635Val)
c.1547A>T (p.Glu516Val)
n.2605A>T
2g.166280409T>CCA349079535SCN1A-AS1,SCN9Ac.2291A>G (p.Glu764Gly)
c.2258A>G (p.Glu753Gly)
c.1293A>G
n.1029+3162T>C
c.1904A>G (p.Glu635Gly)
c.1547A>G (p.Glu516Gly)
n.2605A>G
2g.166280409T>GCA349079534SCN1A-AS1,SCN9Ac.2291A>C (p.Glu764Ala)
c.2258A>C (p.Glu753Ala)
c.1293A>C
n.1029+3162T>G
c.1904A>C (p.Glu635Ala)
c.1547A>C (p.Glu516Ala)
n.2605A>C
2g.166280410C>ACA349079536SCN1A-AS1,SCN9Ac.2290G>T (p.Glu764Ter)
c.2257G>T (p.Glu753Ter)
c.1292G>T
n.1029+3163C>A
c.1903G>T (p.Glu635Ter)
c.1546G>T (p.Glu516Ter)
n.2604G>T
 dbSNP gnomAD v4
2g.166280410C=CA1304965689SCN1A-AS1,SCN9Ac.2290G= (p.Glu764=)
c.2257G= (p.Glu753=)
c.1292G=
n.1029+3163C=
c.1903G= (p.Glu635=)
c.1546G= (p.Glu516=)
n.2604G=
2g.166280410C>GCA349079538SCN1A-AS1,SCN9Ac.2290G>C (p.Glu764Gln)
c.2257G>C (p.Glu753Gln)
c.1292G>C
n.1029+3163C>G
c.1903G>C (p.Glu635Gln)
c.1546G>C (p.Glu516Gln)
n.2604G>C
2g.166280410C>TCA349079537SCN1A-AS1,SCN9Ac.2290G>A (p.Glu764Lys)
c.2257G>A (p.Glu753Lys)
c.1292G>A
n.1029+3163C>T
c.1903G>A (p.Glu635Lys)
c.1546G>A (p.Glu516Lys)
n.2604G>A
 gnomAD v4
2g.166280411C>ACA349079539SCN1A-AS1,SCN9Ac.2289G>T (p.Met763Ile)
c.2256G>T (p.Met752Ile)
c.1291G>T
n.1029+3164C>A
c.1902G>T (p.Met634Ile)
c.1545G>T (p.Met515Ile)
n.2603G>T
2g.166280411C>GCA349079540SCN1A-AS1,SCN9Ac.2289G>C (p.Met763Ile)
c.2256G>C (p.Met752Ile)
c.1291G>C
n.1029+3164C>G
c.1902G>C (p.Met634Ile)
c.1545G>C (p.Met515Ile)
n.2603G>C
 gnomAD v4
2g.166280411C>TCA349079541SCN1A-AS1,SCN9Ac.2289G>A (p.Met763Ile)
c.2256G>A (p.Met752Ile)
c.1291G>A
n.1029+3164C>T
c.1902G>A (p.Met634Ile)
c.1545G>A (p.Met515Ile)
n.2603G>A
2g.166280412A>CCA349079542SCN1A-AS1,SCN9Ac.2288T>G (p.Met763Arg)
c.2255T>G (p.Met752Arg)
c.1290T>G
n.1029+3165A>C
c.1901T>G (p.Met634Arg)
c.1544T>G (p.Met515Arg)
n.2602T>G
2g.166280412A>GCA349079543SCN1A-AS1,SCN9Ac.2288T>C (p.Met763Thr)
c.2255T>C (p.Met752Thr)
c.1290T>C
n.1029+3165A>G
c.1901T>C (p.Met634Thr)
c.1544T>C (p.Met515Thr)
n.2602T>C
 gnomAD v4
2g.166280412A>TCA349079544SCN1A-AS1,SCN9Ac.2288T>A (p.Met763Lys)
c.2255T>A (p.Met752Lys)
c.1290T>A
n.1029+3165A>T
c.1901T>A (p.Met634Lys)
c.1544T>A (p.Met515Lys)
n.2602T>A
 gnomAD v4
2g.166280413T>ACA349079545SCN1A-AS1,SCN9Ac.2287A>T (p.Met763Leu)
c.2254A>T (p.Met752Leu)
c.1289A>T
n.1029+3166T>A
c.1900A>T (p.Met634Leu)
c.1543A>T (p.Met515Leu)
n.2601A>T
2g.166280413T>CCA59796589SCN1A-AS1,SCN9Ac.2287A>G (p.Met763Val)
c.2254A>G (p.Met752Val)
c.1289A>G
n.1029+3166T>C
c.1900A>G (p.Met634Val)
c.1543A>G (p.Met515Val)
n.2601A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280413T>GCA349079546SCN1A-AS1,SCN9Ac.2287A>C (p.Met763Leu)
c.2254A>C (p.Met752Leu)
c.1289A>C
n.1029+3166T>G
c.1900A>C (p.Met634Leu)
c.1543A>C (p.Met515Leu)
n.2601A>C
2g.166280413T=CA1304965693SCN1A-AS1,SCN9Ac.2287A= (p.Met763=)
c.2254A= (p.Met752=)
c.1289A=
n.1029+3166T=
c.1900A= (p.Met634=)
c.1543A= (p.Met515=)
n.2601A=
2g.166280414A>CCA429902223SCN1A-AS1,SCN9Ac.2286T>G (p.Ala762=)
c.2253T>G (p.Ala751=)
c.1288T>G
n.1029+3167A>C
c.1899T>G (p.Ala633=)
c.1542T>G (p.Ala514=)
n.2600T>G
2g.166280414A>GCA429902224SCN1A-AS1,SCN9Ac.2286T>C (p.Ala762=)
c.2253T>C (p.Ala751=)
c.1288T>C
n.1029+3167A>G
c.1899T>C (p.Ala633=)
c.1542T>C (p.Ala514=)
n.2600T>C
 ClinVar dbSNP gnomAD v4
2g.166280414A>TCA429902225SCN1A-AS1,SCN9Ac.2286T>A (p.Ala762=)
c.2253T>A (p.Ala751=)
c.1288T>A
n.1029+3167A>T
c.1899T>A (p.Ala633=)
c.1542T>A (p.Ala514=)
n.2600T>A
2g.166280415G>ACA349079547SCN1A-AS1,SCN9Ac.2285C>T (p.Ala762Val)
c.2252C>T (p.Ala751Val)
c.1287C>T
n.1029+3168G>A
c.1898C>T (p.Ala633Val)
c.1541C>T (p.Ala514Val)
n.2599C>T
 gnomAD v4 COSMIC COSMIC
2g.166280415G>CCA349079548SCN1A-AS1,SCN9Ac.2285C>G (p.Ala762Gly)
c.2252C>G (p.Ala751Gly)
c.1287C>G
n.1029+3168G>C
c.1898C>G (p.Ala633Gly)
c.1541C>G (p.Ala514Gly)
n.2599C>G
 gnomAD v4
2g.166280415G>TCA349079549SCN1A-AS1,SCN9Ac.2285C>A (p.Ala762Asp)
c.2252C>A (p.Ala751Asp)
c.1287C>A
n.1029+3168G>T
c.1898C>A (p.Ala633Asp)
c.1541C>A (p.Ala514Asp)
n.2599C>A
2g.166280416C>ACA349079550SCN1A-AS1,SCN9Ac.2284G>T (p.Ala762Ser)
c.2251G>T (p.Ala751Ser)
c.1286G>T
n.1029+3169C>A
c.1897G>T (p.Ala633Ser)
c.1540G>T (p.Ala514Ser)
n.2598G>T
 gnomAD v4
2g.166280416C>GCA349079552SCN1A-AS1,SCN9Ac.2284G>C (p.Ala762Pro)
c.2251G>C (p.Ala751Pro)
c.1286G>C
n.1029+3169C>G
c.1897G>C (p.Ala633Pro)
c.1540G>C (p.Ala514Pro)
n.2598G>C
2g.166280416C>TCA349079551SCN1A-AS1,SCN9Ac.2284G>A (p.Ala762Thr)
c.2251G>A (p.Ala751Thr)
c.1286G>A
n.1029+3169C>T
c.1897G>A (p.Ala633Thr)
c.1540G>A (p.Ala514Thr)
n.2598G>A
 gnomAD v4
2g.166280417C>ACA349079553SCN1A-AS1,SCN9Ac.2283G>T (p.Met761Ile)
c.2250G>T (p.Met750Ile)
c.1285G>T
n.1029+3170C>A
c.1896G>T (p.Met632Ile)
c.1539G>T (p.Met513Ile)
n.2597G>T
 gnomAD v4
2g.166280417C>GCA349079554SCN1A-AS1,SCN9Ac.2283G>C (p.Met761Ile)
c.2250G>C (p.Met750Ile)
c.1285G>C
n.1029+3170C>G
c.1896G>C (p.Met632Ile)
c.1539G>C (p.Met513Ile)
n.2597G>C
2g.166280417C>TCA349079555SCN1A-AS1,SCN9Ac.2283G>A (p.Met761Ile)
c.2250G>A (p.Met750Ile)
c.1285G>A
n.1029+3170C>T
c.1896G>A (p.Met632Ile)
c.1539G>A (p.Met513Ile)
n.2597G>A
 gnomAD v4
2g.166280418A=CA1304965696SCN1A-AS1,SCN9Ac.2282T= (p.Met761=)
c.2249T= (p.Met750=)
c.1284T=
n.1029+3171A=
c.1895T= (p.Met632=)
c.1538T= (p.Met513=)
n.2596T=
2g.166280418A>CCA349079556SCN1A-AS1,SCN9Ac.2282T>G (p.Met761Arg)
c.2249T>G (p.Met750Arg)
c.1284T>G
n.1029+3171A>C
c.1895T>G (p.Met632Arg)
c.1538T>G (p.Met513Arg)
n.2596T>G
2g.166280418A>GCA349079557SCN1A-AS1,SCN9Ac.2282T>C (p.Met761Thr)
c.2249T>C (p.Met750Thr)
c.1284T>C
n.1029+3171A>G
c.1895T>C (p.Met632Thr)
c.1538T>C (p.Met513Thr)
n.2596T>C
2g.166280418A>TCA349079558SCN1A-AS1,SCN9Ac.2282T>A (p.Met761Lys)
c.2249T>A (p.Met750Lys)
c.1284T>A
n.1029+3171A>T
c.1895T>A (p.Met632Lys)
c.1538T>A (p.Met513Lys)
n.2596T>A
 ClinVar dbSNP
2g.166280419T>ACA349079559SCN1A-AS1,SCN9Ac.2281A>T (p.Met761Leu)
c.2248A>T (p.Met750Leu)
c.1283A>T
n.1029+3172T>A
c.1894A>T (p.Met632Leu)
c.1537A>T (p.Met513Leu)
n.2595A>T
2g.166280419T>CCA349079560SCN1A-AS1,SCN9Ac.2281A>G (p.Met761Val)
c.2248A>G (p.Met750Val)
c.1283A>G
n.1029+3172T>C
c.1894A>G (p.Met632Val)
c.1537A>G (p.Met513Val)
n.2595A>G
2g.166280419T>GCA349079561SCN1A-AS1,SCN9Ac.2281A>C (p.Met761Leu)
c.2248A>C (p.Met750Leu)
c.1283A>C
n.1029+3172T>G
c.1894A>C (p.Met632Leu)
c.1537A>C (p.Met513Leu)
n.2595A>C
2g.166280420A>CCA349079563SCN1A-AS1,SCN9Ac.2280T>G (p.Phe760Leu)
c.2247T>G (p.Phe749Leu)
c.1282T>G
n.1029+3173A>C
c.1893T>G (p.Phe631Leu)
c.1536T>G (p.Phe512Leu)
n.2594T>G
2g.166280420A>GCA429902236SCN1A-AS1,SCN9Ac.2280T>C (p.Phe760=)
c.2247T>C (p.Phe749=)
c.1282T>C
n.1029+3173A>G
c.1893T>C (p.Phe631=)
c.1536T>C (p.Phe512=)
n.2594T>C
 gnomAD v4
2g.166280420A>TCA349079562SCN1A-AS1,SCN9Ac.2280T>A (p.Phe760Leu)
c.2247T>A (p.Phe749Leu)
c.1282T>A
n.1029+3173A>T
c.1893T>A (p.Phe631Leu)
c.1536T>A (p.Phe512Leu)
n.2594T>A
2g.166280421A=CA1304965698SCN1A-AS1,SCN9Ac.2279T= (p.Phe760=)
c.2246T= (p.Phe749=)
c.1281T=
n.1029+3174A=
c.1892T= (p.Phe631=)
c.1535T= (p.Phe512=)
n.2593T=
2g.166280421A>CCA349079564SCN1A-AS1,SCN9Ac.2279T>G (p.Phe760Cys)
c.2246T>G (p.Phe749Cys)
c.1281T>G
n.1029+3174A>C
c.1892T>G (p.Phe631Cys)
c.1535T>G (p.Phe512Cys)
n.2593T>G
2g.166280421A>GCA349079565SCN1A-AS1,SCN9Ac.2279T>C (p.Phe760Ser)
c.2246T>C (p.Phe749Ser)
c.1281T>C
n.1029+3174A>G
c.1892T>C (p.Phe631Ser)
c.1535T>C (p.Phe512Ser)
n.2593T>C
 dbSNP gnomAD v2 gnomAD v4
2g.166280421A>TCA349079566SCN1A-AS1,SCN9Ac.2279T>A (p.Phe760Tyr)
c.2246T>A (p.Phe749Tyr)
c.1281T>A
n.1029+3174A>T
c.1892T>A (p.Phe631Tyr)
c.1535T>A (p.Phe512Tyr)
n.2593T>A
2g.166280422A>CCA349079567SCN1A-AS1,SCN9Ac.2278T>G (p.Phe760Val)
c.2245T>G (p.Phe749Val)
c.1280T>G
n.1029+3175A>C
c.1891T>G (p.Phe631Val)
c.1534T>G (p.Phe512Val)
n.2592T>G
2g.166280422A>GCA349079568SCN1A-AS1,SCN9Ac.2278T>C (p.Phe760Leu)
c.2245T>C (p.Phe749Leu)
c.1280T>C
n.1029+3175A>G
c.1891T>C (p.Phe631Leu)
c.1534T>C (p.Phe512Leu)
n.2592T>C
2g.166280422A>TCA349079569SCN1A-AS1,SCN9Ac.2278T>A (p.Phe760Ile)
c.2245T>A (p.Phe749Ile)
c.1280T>A
n.1029+3175A>T
c.1891T>A (p.Phe631Ile)
c.1534T>A (p.Phe512Ile)
n.2592T>A
 gnomAD v4
2g.166280423T>ACA349079571SCN1A-AS1,SCN9Ac.2277A>T (p.Leu759Phe)
c.2244A>T (p.Leu748Phe)
c.1279A>T
n.1029+3176T>A
c.1890A>T (p.Leu630Phe)
c.1533A>T (p.Leu511Phe)
n.2591A>T
 ClinVar dbSNP
2g.166280423T>CCA59796596SCN1A-AS1,SCN9Ac.2277A>G (p.Leu759=)
c.2244A>G (p.Leu748=)
c.1279A>G
n.1029+3176T>C
c.1890A>G (p.Leu630=)
c.1533A>G (p.Leu511=)
n.2591A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280423T>GCA349079570SCN1A-AS1,SCN9Ac.2277A>C (p.Leu759Phe)
c.2244A>C (p.Leu748Phe)
c.1279A>C
n.1029+3176T>G
c.1890A>C (p.Leu630Phe)
c.1533A>C (p.Leu511Phe)
n.2591A>C
2g.166280423T=CA1304965702SCN1A-AS1,SCN9Ac.2277A= (p.Leu759=)
c.2244A= (p.Leu748=)
c.1279A=
n.1029+3176T=
c.1890A= (p.Leu630=)
c.1533A= (p.Leu511=)
n.2591A=
2g.166280424A>CCA349079572SCN1A-AS1,SCN9Ac.2276T>G (p.Leu759Ter)
c.2243T>G (p.Leu748Ter)
c.1278T>G
n.1029+3177A>C
c.1889T>G (p.Leu630Ter)
c.1532T>G (p.Leu511Ter)
n.2590T>G
2g.166280424A>GCA349079573SCN1A-AS1,SCN9Ac.2276T>C (p.Leu759Ser)
c.2243T>C (p.Leu748Ser)
c.1278T>C
n.1029+3177A>G
c.1889T>C (p.Leu630Ser)
c.1532T>C (p.Leu511Ser)
n.2590T>C
 gnomAD v4
2g.166280424A>TCA349079574SCN1A-AS1,SCN9Ac.2276T>A (p.Leu759Ter)
c.2243T>A (p.Leu748Ter)
c.1278T>A
n.1029+3177A>T
c.1889T>A (p.Leu630Ter)
c.1532T>A (p.Leu511Ter)
n.2590T>A
2g.166280425A>CCA349079575SCN1A-AS1,SCN9Ac.2275T>G (p.Leu759Val)
c.2242T>G (p.Leu748Val)
c.1277T>G
n.1029+3178A>C
c.1888T>G (p.Leu630Val)
c.1531T>G (p.Leu511Val)
n.2589T>G
2g.166280425A>GCA429902242SCN1A-AS1,SCN9Ac.2275T>C (p.Leu759=)
c.2242T>C (p.Leu748=)
c.1277T>C
n.1029+3178A>G
c.1888T>C (p.Leu630=)
c.1531T>C (p.Leu511=)
n.2589T>C
2g.166280425A>TCA349079576SCN1A-AS1,SCN9Ac.2275T>A (p.Leu759Ile)
c.2242T>A (p.Leu748Ile)
c.1277T>A
n.1029+3178A>T
c.1888T>A (p.Leu630Ile)
c.1531T>A (p.Leu511Ile)
n.2589T>A
2g.166280426T>ACA429902247SCN1A-AS1,SCN9Ac.2274A>T (p.Thr758=)
c.2241A>T (p.Thr747=)
c.1276A>T
n.1029+3179T>A
c.1887A>T (p.Thr629=)
c.1530A>T (p.Thr510=)
n.2588A>T
2g.166280426T>CCA429902248SCN1A-AS1,SCN9Ac.2274A>G (p.Thr758=)
c.2241A>G (p.Thr747=)
c.1276A>G
n.1029+3179T>C
c.1887A>G (p.Thr629=)
c.1530A>G (p.Thr510=)
n.2588A>G
 dbSNP
2g.166280426T>GCA429902249SCN1A-AS1,SCN9Ac.2274A>C (p.Thr758=)
c.2241A>C (p.Thr747=)
c.1276A>C
n.1029+3179T>G
c.1887A>C (p.Thr629=)
c.1530A>C (p.Thr510=)
n.2588A>C
2g.166280426T=CA1304965703SCN1A-AS1,SCN9Ac.2274A= (p.Thr758=)
c.2241A= (p.Thr747=)
c.1276A=
n.1029+3179T=
c.1887A= (p.Thr629=)
c.1530A= (p.Thr510=)
n.2588A=
2g.166280427G>ACA349079577SCN1A-AS1,SCN9Ac.2273C>T (p.Thr758Ile)
c.2240C>T (p.Thr747Ile)
c.1275C>T
n.1029+3180G>A
c.1886C>T (p.Thr629Ile)
c.1529C>T (p.Thr510Ile)
n.2587C>T
2g.166280427G>CCA349079579SCN1A-AS1,SCN9Ac.2273C>G (p.Thr758Arg)
c.2240C>G (p.Thr747Arg)
c.1275C>G
n.1029+3180G>C
c.1886C>G (p.Thr629Arg)
c.1529C>G (p.Thr510Arg)
n.2587C>G
2g.166280427G>TCA349079578SCN1A-AS1,SCN9Ac.2273C>A (p.Thr758Lys)
c.2240C>A (p.Thr747Lys)
c.1275C>A
n.1029+3180G>T
c.1886C>A (p.Thr629Lys)
c.1529C>A (p.Thr510Lys)
n.2587C>A
 gnomAD v4
2g.166280428T>ACA349079580SCN1A-AS1,SCN9Ac.2272A>T (p.Thr758Ser)
c.2239A>T (p.Thr747Ser)
c.1274A>T
n.1029+3181T>A
c.1885A>T (p.Thr629Ser)
c.1528A>T (p.Thr510Ser)
n.2586A>T
 gnomAD v4
2g.166280428T>CCA349079581SCN1A-AS1,SCN9Ac.2272A>G (p.Thr758Ala)
c.2239A>G (p.Thr747Ala)
c.1274A>G
n.1029+3181T>C
c.1885A>G (p.Thr629Ala)
c.1528A>G (p.Thr510Ala)
n.2586A>G
 dbSNP gnomAD v2
2g.166280428T>GCA349079582SCN1A-AS1,SCN9Ac.2272A>C (p.Thr758Pro)
c.2239A>C (p.Thr747Pro)
c.1274A>C
n.1029+3181T>G
c.1885A>C (p.Thr629Pro)
c.1528A>C (p.Thr510Pro)
n.2586A>C
2g.166280428T=CA1304965704SCN1A-AS1,SCN9Ac.2272A= (p.Thr758=)
c.2239A= (p.Thr747=)
c.1274A=
n.1029+3181T=
c.1885A= (p.Thr629=)
c.1528A= (p.Thr510=)
n.2586A=
2g.166280429G>ACA429902254SCN1A-AS1,SCN9Ac.2271C>T (p.Asn757=)
c.2238C>T (p.Asn746=)
c.1273C>T
n.1029+3182G>A
c.1884C>T (p.Asn628=)
c.1527C>T (p.Asn509=)
n.2585C>T
 ClinVar dbSNP
2g.166280429G>CCA349079583SCN1A-AS1,SCN9Ac.2271C>G (p.Asn757Lys)
c.2238C>G (p.Asn746Lys)
c.1273C>G
n.1029+3182G>C
c.1884C>G (p.Asn628Lys)
c.1527C>G (p.Asn509Lys)
n.2585C>G
2g.166280429G>TCA349079584SCN1A-AS1,SCN9Ac.2271C>A (p.Asn757Lys)
c.2238C>A (p.Asn746Lys)
c.1273C>A
n.1029+3182G>T
c.1884C>A (p.Asn628Lys)
c.1527C>A (p.Asn509Lys)
n.2585C>A
 gnomAD v4
2g.166280430T>ACA349079585SCN1A-AS1,SCN9Ac.2270A>T (p.Asn757Ile)
c.2237A>T (p.Asn746Ile)
c.1272A>T
n.1029+3183T>A
c.1883A>T (p.Asn628Ile)
c.1526A>T (p.Asn509Ile)
n.2584A>T
 dbSNP gnomAD v3 gnomAD v4
2g.166280430T>CCA349079586SCN1A-AS1,SCN9Ac.2270A>G (p.Asn757Ser)
c.2237A>G (p.Asn746Ser)
c.1272A>G
n.1029+3183T>C
c.1883A>G (p.Asn628Ser)
c.1526A>G (p.Asn509Ser)
n.2584A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280430T>GCA349079587SCN1A-AS1,SCN9Ac.2270A>C (p.Asn757Thr)
c.2237A>C (p.Asn746Thr)
c.1272A>C
n.1029+3183T>G
c.1883A>C (p.Asn628Thr)
c.1526A>C (p.Asn509Thr)
n.2584A>C
2g.166280430T=CA1304965706SCN1A-AS1,SCN9Ac.2270A= (p.Asn757=)
c.2237A= (p.Asn746=)
c.1272A=
n.1029+3183T=
c.1883A= (p.Asn628=)
c.1526A= (p.Asn509=)
n.2584A=
2g.166280431T>ACA349079588SCN1A-AS1,SCN9Ac.2269A>T (p.Asn757Tyr)
c.2236A>T (p.Asn746Tyr)
c.1271A>T
n.1029+3184T>A
c.1882A>T (p.Asn628Tyr)
c.1525A>T (p.Asn509Tyr)
n.2583A>T
2g.166280431T>CCA349079589SCN1A-AS1,SCN9Ac.2269A>G (p.Asn757Asp)
c.2236A>G (p.Asn746Asp)
c.1271A>G
n.1029+3184T>C
c.1882A>G (p.Asn628Asp)
c.1525A>G (p.Asn509Asp)
n.2583A>G
2g.166280431T>GCA349079590SCN1A-AS1,SCN9Ac.2269A>C (p.Asn757His)
c.2236A>C (p.Asn746His)
c.1271A>C
n.1029+3184T>G
c.1882A>C (p.Asn628His)
c.1525A>C (p.Asn509His)
n.2583A>C
2g.166280432T>ACA349079592SCN1A-AS1,SCN9Ac.2268A>T (p.Leu756Phe)
c.2235A>T (p.Leu745Phe)
c.1270A>T
n.1029+3185T>A
c.1881A>T (p.Leu627Phe)
c.1524A>T (p.Leu508Phe)
n.2582A>T
2g.166280432T>CCA59796602SCN1A-AS1,SCN9Ac.2268A>G (p.Leu756=)
c.2235A>G (p.Leu745=)
c.1270A>G
n.1029+3185T>C
c.1881A>G (p.Leu627=)
c.1524A>G (p.Leu508=)
n.2582A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280432T>GCA349079591SCN1A-AS1,SCN9Ac.2268A>C (p.Leu756Phe)
c.2235A>C (p.Leu745Phe)
c.1270A>C
n.1029+3185T>G
c.1881A>C (p.Leu627Phe)
c.1524A>C (p.Leu508Phe)
n.2582A>C
2g.166280432T=CA1304965709SCN1A-AS1,SCN9Ac.2268A= (p.Leu756=)
c.2235A= (p.Leu745=)
c.1270A=
n.1029+3185T=
c.1881A= (p.Leu627=)
c.1524A= (p.Leu508=)
n.2582A=
2g.166280433A>CCA349079593SCN1A-AS1,SCN9Ac.2267T>G (p.Leu756Ter)
c.2234T>G (p.Leu745Ter)
c.1269T>G
n.1029+3186A>C
c.1880T>G (p.Leu627Ter)
c.1523T>G (p.Leu508Ter)
n.2581T>G
2g.166280433A>GCA349079594SCN1A-AS1,SCN9Ac.2267T>C (p.Leu756Ser)
c.2234T>C (p.Leu745Ser)
c.1269T>C
n.1029+3186A>G
c.1880T>C (p.Leu627Ser)
c.1523T>C (p.Leu508Ser)
n.2581T>C
 gnomAD v4
2g.166280433A>TCA349079595SCN1A-AS1,SCN9Ac.2267T>A (p.Leu756Ter)
c.2234T>A (p.Leu745Ter)
c.1269T>A
n.1029+3186A>T
c.1880T>A (p.Leu627Ter)
c.1523T>A (p.Leu508Ter)
n.2581T>A
2g.166280434A>CCA349079596SCN1A-AS1,SCN9Ac.2266T>G (p.Leu756Val)
c.2233T>G (p.Leu745Val)
c.1268T>G
n.1029+3187A>C
c.1879T>G (p.Leu627Val)
c.1522T>G (p.Leu508Val)
n.2580T>G
2g.166280434A>GCA429902273SCN1A-AS1,SCN9Ac.2266T>C (p.Leu756=)
c.2233T>C (p.Leu745=)
c.1268T>C
n.1029+3187A>G
c.1879T>C (p.Leu627=)
c.1522T>C (p.Leu508=)
n.2580T>C
2g.166280434A>TCA349079597SCN1A-AS1,SCN9Ac.2266T>A (p.Leu756Ile)
c.2233T>A (p.Leu745Ile)
c.1268T>A
n.1029+3187A>T
c.1879T>A (p.Leu627Ile)
c.1522T>A (p.Leu508Ile)
n.2580T>A
2g.166280435A>CCA429902275SCN1A-AS1,SCN9Ac.2265T>G (p.Val755=)
c.2232T>G (p.Val744=)
c.1267T>G
n.1029+3188A>C
c.1878T>G (p.Val626=)
c.1521T>G (p.Val507=)
n.2579T>G
2g.166280435A>GCA429902279SCN1A-AS1,SCN9Ac.2265T>C (p.Val755=)
c.2232T>C (p.Val744=)
c.1267T>C
n.1029+3188A>G
c.1878T>C (p.Val626=)
c.1521T>C (p.Val507=)
n.2579T>C
 gnomAD v4
2g.166280435A>TCA429902282SCN1A-AS1,SCN9Ac.2265T>A (p.Val755=)
c.2232T>A (p.Val744=)
c.1267T>A
n.1029+3188A>T
c.1878T>A (p.Val626=)
c.1521T>A (p.Val507=)
n.2579T>A
2g.166280436A>CCA349079600SCN1A-AS1,SCN9Ac.2264T>G (p.Val755Gly)
c.2231T>G (p.Val744Gly)
c.1266T>G
n.1029+3189A>C
c.1877T>G (p.Val626Gly)
c.1520T>G (p.Val507Gly)
n.2578T>G
2g.166280436A>GCA349079599SCN1A-AS1,SCN9Ac.2264T>C (p.Val755Ala)
c.2231T>C (p.Val744Ala)
c.1266T>C
n.1029+3189A>G
c.1877T>C (p.Val626Ala)
c.1520T>C (p.Val507Ala)
n.2578T>C
 dbSNP gnomAD v4
2g.166280436A>TCA349079598SCN1A-AS1,SCN9Ac.2264T>A (p.Val755Asp)
c.2231T>A (p.Val744Asp)
c.1266T>A
n.1029+3189A>T
c.1877T>A (p.Val626Asp)
c.1520T>A (p.Val507Asp)
n.2578T>A
2g.166280437C>ACA349079601SCN1A-AS1,SCN9Ac.2263G>T (p.Val755Phe)
c.2230G>T (p.Val744Phe)
c.1265G>T
n.1029+3190C>A
c.1876G>T (p.Val626Phe)
c.1519G>T (p.Val507Phe)
n.2577G>T
 gnomAD v4
2g.166280437C=CA1304965711SCN1A-AS1,SCN9Ac.2263G= (p.Val755=)
c.2230G= (p.Val744=)
c.1265G=
n.1029+3190C=
c.1876G= (p.Val626=)
c.1519G= (p.Val507=)
n.2577G=
2g.166280437C>GCA349079602SCN1A-AS1,SCN9Ac.2263G>C (p.Val755Leu)
c.2230G>C (p.Val744Leu)
c.1265G>C
n.1029+3190C>G
c.1876G>C (p.Val626Leu)
c.1519G>C (p.Val507Leu)
n.2577G>C
 gnomAD v4
2g.166280437C>TCA349079603SCN1A-AS1,SCN9Ac.2263G>A (p.Val755Ile)
c.2230G>A (p.Val744Ile)
c.1265G>A
n.1029+3190C>T
c.1876G>A (p.Val626Ile)
c.1519G>A (p.Val507Ile)
n.2577G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280438T>ACA429902288SCN1A-AS1,SCN9Ac.2262A>T (p.Ile754=)
c.2229A>T (p.Ile743=)
c.1264A>T
n.1029+3191T>A
c.1875A>T (p.Ile625=)
c.1518A>T (p.Ile506=)
n.2576A>T
2g.166280438T>CCA349079604SCN1A-AS1,SCN9Ac.2262A>G (p.Ile754Met)
c.2229A>G (p.Ile743Met)
c.1264A>G
n.1029+3191T>C
c.1875A>G (p.Ile625Met)
c.1518A>G (p.Ile506Met)
n.2576A>G
2g.166280438T>GCA429902287SCN1A-AS1,SCN9Ac.2262A>C (p.Ile754=)
c.2229A>C (p.Ile743=)
c.1264A>C
n.1029+3191T>G
c.1875A>C (p.Ile625=)
c.1518A>C (p.Ile506=)
n.2576A>C
2g.166280439A>CCA349079605SCN1A-AS1,SCN9Ac.2261T>G (p.Ile754Arg)
c.2228T>G (p.Ile743Arg)
c.1263T>G
n.1029+3192A>C
c.1874T>G (p.Ile625Arg)
c.1517T>G (p.Ile506Arg)
n.2575T>G
2g.166280439A>GCA349079606SCN1A-AS1,SCN9Ac.2261T>C (p.Ile754Thr)
c.2228T>C (p.Ile743Thr)
c.1263T>C
n.1029+3192A>G
c.1874T>C (p.Ile625Thr)
c.1517T>C (p.Ile506Thr)
n.2575T>C
2g.166280439A>TCA349079607SCN1A-AS1,SCN9Ac.2261T>A (p.Ile754Lys)
c.2228T>A (p.Ile743Lys)
c.1263T>A
n.1029+3192A>T
c.1874T>A (p.Ile625Lys)
c.1517T>A (p.Ile506Lys)
n.2575T>A
2g.166280440T>ACA349079608SCN1A-AS1,SCN9Ac.2260A>T (p.Ile754Leu)
c.2227A>T (p.Ile743Leu)
c.1262A>T
n.1029+3193T>A
c.1873A>T (p.Ile625Leu)
c.1516A>T (p.Ile506Leu)
n.2574A>T
2g.166280440T>CCA1944304SCN1A-AS1,SCN9Ac.2260A>G (p.Ile754Val)
c.2227A>G (p.Ile743Val)
c.1262A>G
n.1029+3193T>C
c.1873A>G (p.Ile625Val)
c.1516A>G (p.Ile506Val)
n.2574A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280440T>GCA349079609SCN1A-AS1,SCN9Ac.2260A>C (p.Ile754Leu)
c.2227A>C (p.Ile743Leu)
c.1262A>C
n.1029+3193T>G
c.1873A>C (p.Ile625Leu)
c.1516A>C (p.Ile506Leu)
n.2574A>C
2g.166280440T=CA1304965713SCN1A-AS1,SCN9Ac.2260A= (p.Ile754=)
c.2227A= (p.Ile743=)
c.1262A=
n.1029+3193T=
c.1873A= (p.Ile625=)
c.1516A= (p.Ile506=)
n.2574A=
2g.166280441G>ACA429902296SCN1A-AS1,SCN9Ac.2259C>T (p.Cys753=)
c.2226C>T (p.Cys742=)
c.1261C>T
n.1029+3194G>A
c.1872C>T (p.Cys624=)
c.1515C>T (p.Cys505=)
n.2573C>T
 gnomAD v4
2g.166280441G>CCA349079610SCN1A-AS1,SCN9Ac.2259C>G (p.Cys753Trp)
c.2226C>G (p.Cys742Trp)
c.1261C>G
n.1029+3194G>C
c.1872C>G (p.Cys624Trp)
c.1515C>G (p.Cys505Trp)
n.2573C>G
2g.166280441G=CA1304965714SCN1A-AS1,SCN9Ac.2259C= (p.Cys753=)
c.2226C= (p.Cys742=)
c.1261C=
n.1029+3194G=
c.1872C= (p.Cys624=)
c.1515C= (p.Cys505=)
n.2573C=
2g.166280441G>TCA349079611SCN1A-AS1,SCN9Ac.2259C>A (p.Cys753Ter)
c.2226C>A (p.Cys742Ter)
c.1261C>A
n.1029+3194G>T
c.1872C>A (p.Cys624Ter)
c.1515C>A (p.Cys505Ter)
n.2573C>A
 dbSNP
2g.166280442C>ACA1944305SCN1A-AS1,SCN9Ac.2258G>T (p.Cys753Phe)
c.2225G>T (p.Cys742Phe)
c.1260G>T
n.1029+3195C>A
c.1871G>T (p.Cys624Phe)
c.1514G>T (p.Cys505Phe)
n.2572G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280442C=CA1304965716SCN1A-AS1,SCN9Ac.2258G= (p.Cys753=)
c.2225G= (p.Cys742=)
c.1260G=
n.1029+3195C=
c.1871G= (p.Cys624=)
c.1514G= (p.Cys505=)
n.2572G=
2g.166280442C>GCA349079612SCN1A-AS1,SCN9Ac.2258G>C (p.Cys753Ser)
c.2225G>C (p.Cys742Ser)
c.1260G>C
n.1029+3195C>G
c.1871G>C (p.Cys624Ser)
c.1514G>C (p.Cys505Ser)
n.2572G>C
2g.166280442C>TCA349079613SCN1A-AS1,SCN9Ac.2258G>A (p.Cys753Tyr)
c.2225G>A (p.Cys742Tyr)
c.1260G>A
n.1029+3195C>T
c.1871G>A (p.Cys624Tyr)
c.1514G>A (p.Cys505Tyr)
n.2572G>A
 ClinVar dbSNP gnomAD v4
2g.166280443A>CCA349079614SCN1A-AS1,SCN9Ac.2257T>G (p.Cys753Gly)
c.2224T>G (p.Cys742Gly)
c.1259T>G
n.1029+3196A>C
c.1870T>G (p.Cys624Gly)
c.1513T>G (p.Cys505Gly)
n.2571T>G
2g.166280443A>GCA349079615SCN1A-AS1,SCN9Ac.2257T>C (p.Cys753Arg)
c.2224T>C (p.Cys742Arg)
c.1259T>C
n.1029+3196A>G
c.1870T>C (p.Cys624Arg)
c.1513T>C (p.Cys505Arg)
n.2571T>C
2g.166280443A>TCA349079616SCN1A-AS1,SCN9Ac.2257T>A (p.Cys753Ser)
c.2224T>A (p.Cys742Ser)
c.1259T>A
n.1029+3196A>T
c.1870T>A (p.Cys624Ser)
c.1513T>A (p.Cys505Ser)
n.2571T>A
2g.166280444A>CCA349079617SCN1A-AS1,SCN9Ac.2256T>G (p.Ile752Met)
c.2223T>G (p.Ile741Met)
c.1258T>G
n.1029+3197A>C
c.1869T>G (p.Ile623Met)
c.1512T>G (p.Ile504Met)
n.2570T>G
2g.166280444A>GCA429902305SCN1A-AS1,SCN9Ac.2256T>C (p.Ile752=)
c.2223T>C (p.Ile741=)
c.1258T>C
n.1029+3197A>G
c.1869T>C (p.Ile623=)
c.1512T>C (p.Ile504=)
n.2570T>C
2g.166280444A>TCA429902308SCN1A-AS1,SCN9Ac.2256T>A (p.Ile752=)
c.2223T>A (p.Ile741=)
c.1258T>A
n.1029+3197A>T
c.1869T>A (p.Ile623=)
c.1512T>A (p.Ile504=)
n.2570T>A
2g.166280445A=CA1304965718SCN1A-AS1,SCN9Ac.2255T= (p.Ile752=)
c.2222T= (p.Ile741=)
c.1257T=
n.1029+3198A=
c.1868T= (p.Ile623=)
c.1511T= (p.Ile504=)
n.2569T=
2g.166280445A>CCA349079618SCN1A-AS1,SCN9Ac.2255T>G (p.Ile752Ser)
c.2222T>G (p.Ile741Ser)
c.1257T>G
n.1029+3198A>C
c.1868T>G (p.Ile623Ser)
c.1511T>G (p.Ile504Ser)
n.2569T>G
2g.166280445A>GCA349079619SCN1A-AS1,SCN9Ac.2255T>C (p.Ile752Thr)
c.2222T>C (p.Ile741Thr)
c.1257T>C
n.1029+3198A>G
c.1868T>C (p.Ile623Thr)
c.1511T>C (p.Ile504Thr)
n.2569T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280445A>TCA349079620SCN1A-AS1,SCN9Ac.2255T>A (p.Ile752Asn)
c.2222T>A (p.Ile741Asn)
c.1257T>A
n.1029+3198A>T
c.1868T>A (p.Ile623Asn)
c.1511T>A (p.Ile504Asn)
n.2569T>A
 gnomAD v4
2g.166280446T>ACA349079621SCN1A-AS1,SCN9Ac.2254A>T (p.Ile752Phe)
c.2221A>T (p.Ile741Phe)
c.1256A>T
n.1029+3199T>A
c.1867A>T (p.Ile623Phe)
c.1510A>T (p.Ile504Phe)
n.2568A>T
 dbSNP
2g.166280446T>CCA349079623SCN1A-AS1,SCN9Ac.2254A>G (p.Ile752Val)
c.2221A>G (p.Ile741Val)
c.1256A>G
n.1029+3199T>C
c.1867A>G (p.Ile623Val)
c.1510A>G (p.Ile504Val)
n.2568A>G
2g.166280446T>GCA349079622SCN1A-AS1,SCN9Ac.2254A>C (p.Ile752Leu)
c.2221A>C (p.Ile741Leu)
c.1256A>C
n.1029+3199T>G
c.1867A>C (p.Ile623Leu)
c.1510A>C (p.Ile504Leu)
n.2568A>C
2g.166280446T=CA1304965720SCN1A-AS1,SCN9Ac.2254A= (p.Ile752=)
c.2221A= (p.Ile741=)
c.1256A=
n.1029+3199T=
c.1867A= (p.Ile623=)
c.1510A= (p.Ile504=)
n.2568A=
2g.166280447G>ACA59796617SCN1A-AS1,SCN9Ac.2253C>T (p.Thr751=)
c.2220C>T (p.Thr740=)
c.1255C>T
n.1029+3200G>A
c.1866C>T (p.Thr622=)
c.1509C>T (p.Thr503=)
n.2567C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280447G>CCA429902317SCN1A-AS1,SCN9Ac.2253C>G (p.Thr751=)
c.2220C>G (p.Thr740=)
c.1255C>G
n.1029+3200G>C
c.1866C>G (p.Thr622=)
c.1509C>G (p.Thr503=)
n.2567C>G
2g.166280447G=CA1304965724SCN1A-AS1,SCN9Ac.2253C= (p.Thr751=)
c.2220C= (p.Thr740=)
c.1255C=
n.1029+3200G=
c.1866C= (p.Thr622=)
c.1509C= (p.Thr503=)
n.2567C=
2g.166280447G>TCA429902318SCN1A-AS1,SCN9Ac.2253C>A (p.Thr751=)
c.2220C>A (p.Thr740=)
c.1255C>A
n.1029+3200G>T
c.1866C>A (p.Thr622=)
c.1509C>A (p.Thr503=)
n.2567C>A
 gnomAD v4
2g.166280448G>ACA349079624SCN1A-AS1,SCN9Ac.2252C>T (p.Thr751Ile)
c.2219C>T (p.Thr740Ile)
c.1254C>T
n.1029+3201G>A
c.1865C>T (p.Thr622Ile)
c.1508C>T (p.Thr503Ile)
n.2566C>T
 dbSNP gnomAD v3 gnomAD v4
2g.166280448G>CCA349079625SCN1A-AS1,SCN9Ac.2252C>G (p.Thr751Ser)
c.2219C>G (p.Thr740Ser)
c.1254C>G
n.1029+3201G>C
c.1865C>G (p.Thr622Ser)
c.1508C>G (p.Thr503Ser)
n.2566C>G
2g.166280448G=CA1304965725SCN1A-AS1,SCN9Ac.2252C= (p.Thr751=)
c.2219C= (p.Thr740=)
c.1254C=
n.1029+3201G=
c.1865C= (p.Thr622=)
c.1508C= (p.Thr503=)
n.2566C=
2g.166280448G>TCA349079626SCN1A-AS1,SCN9Ac.2252C>A (p.Thr751Asn)
c.2219C>A (p.Thr740Asn)
c.1254C>A
n.1029+3201G>T
c.1865C>A (p.Thr622Asn)
c.1508C>A (p.Thr503Asn)
n.2566C>A
2g.166280449T>ACA349079627SCN1A-AS1,SCN9Ac.2251A>T (p.Thr751Ser)
c.2218A>T (p.Thr740Ser)
c.1253A>T
n.1029+3202T>A
c.1864A>T (p.Thr622Ser)
c.1507A>T (p.Thr503Ser)
n.2565A>T
2g.166280449T>CCA349079628SCN1A-AS1,SCN9Ac.2251A>G (p.Thr751Ala)
c.2218A>G (p.Thr740Ala)
c.1253A>G
n.1029+3202T>C
c.1864A>G (p.Thr622Ala)
c.1507A>G (p.Thr503Ala)
n.2565A>G
2g.166280449T>GCA349079629SCN1A-AS1,SCN9Ac.2251A>C (p.Thr751Pro)
c.2218A>C (p.Thr740Pro)
c.1253A>C
n.1029+3202T>G
c.1864A>C (p.Thr622Pro)
c.1507A>C (p.Thr503Pro)
n.2565A>C
2g.166280450A>CCA349079630SCN1A-AS1,SCN9Ac.2250T>G (p.Ile750Met)
c.2217T>G (p.Ile739Met)
c.1252T>G
n.1029+3203A>C
c.1863T>G (p.Ile621Met)
c.1506T>G (p.Ile502Met)
n.2564T>G
2g.166280450A>GCA429902328SCN1A-AS1,SCN9Ac.2250T>C (p.Ile750=)
c.2217T>C (p.Ile739=)
c.1252T>C
n.1029+3203A>G
c.1863T>C (p.Ile621=)
c.1506T>C (p.Ile502=)
n.2564T>C
2g.166280450A>TCA429902329SCN1A-AS1,SCN9Ac.2250T>A (p.Ile750=)
c.2217T>A (p.Ile739=)
c.1252T>A
n.1029+3203A>T
c.1863T>A (p.Ile621=)
c.1506T>A (p.Ile502=)
n.2564T>A
2g.166280451A>CCA349079631SCN1A-AS1,SCN9Ac.2249T>G (p.Ile750Ser)
c.2216T>G (p.Ile739Ser)
c.1251T>G
n.1029+3204A>C
c.1862T>G (p.Ile621Ser)
c.1505T>G (p.Ile502Ser)
n.2563T>G
2g.166280451A>GCA349079632SCN1A-AS1,SCN9Ac.2249T>C (p.Ile750Thr)
c.2216T>C (p.Ile739Thr)
c.1251T>C
n.1029+3204A>G
c.1862T>C (p.Ile621Thr)
c.1505T>C (p.Ile502Thr)
n.2563T>C
2g.166280451A>TCA349079633SCN1A-AS1,SCN9Ac.2249T>A (p.Ile750Asn)
c.2216T>A (p.Ile739Asn)
c.1251T>A
n.1029+3204A>T
c.1862T>A (p.Ile621Asn)
c.1505T>A (p.Ile502Asn)
n.2563T>A
2g.166280452T>ACA349079634SCN1A-AS1,SCN9Ac.2248A>T (p.Ile750Phe)
c.2215A>T (p.Ile739Phe)
c.1250A>T
n.1029+3205T>A
c.1861A>T (p.Ile621Phe)
c.1504A>T (p.Ile502Phe)
n.2562A>T
2g.166280452T>CCA171007SCN1A-AS1,SCN9Ac.2248A>G (p.Ile750Val)
c.2215A>G (p.Ile739Val)
c.1250A>G
n.1029+3205T>C
c.1861A>G (p.Ile621Val)
c.1504A>G (p.Ile502Val)
n.2562A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280452T>GCA349079635SCN1A-AS1,SCN9Ac.2248A>C (p.Ile750Leu)
c.2215A>C (p.Ile739Leu)
c.1250A>C
n.1029+3205T>G
c.1861A>C (p.Ile621Leu)
c.1504A>C (p.Ile502Leu)
n.2562A>C
2g.166280452T=CA1304965726SCN1A-AS1,SCN9Ac.2248A= (p.Ile750=)
c.2215A= (p.Ile739=)
c.1250A=
n.1029+3205T=
c.1861A= (p.Ile621=)
c.1504A= (p.Ile502=)
n.2562A=
2g.166280453T>ACA429902331SCN1A-AS1,SCN9Ac.2247A>T (p.Ala749=)
c.2214A>T (p.Ala738=)
c.1249A>T
n.1029+3206T>A
c.1860A>T (p.Ala620=)
c.1503A>T (p.Ala501=)
n.2561A>T
 gnomAD v4
2g.166280453T>CCA429902333SCN1A-AS1,SCN9Ac.2247A>G (p.Ala749=)
c.2214A>G (p.Ala738=)
c.1249A>G
n.1029+3206T>C
c.1860A>G (p.Ala620=)
c.1503A>G (p.Ala501=)
n.2561A>G
2g.166280453T>GCA429902336SCN1A-AS1,SCN9Ac.2247A>C (p.Ala749=)
c.2214A>C (p.Ala738=)
c.1249A>C
n.1029+3206T>G
c.1860A>C (p.Ala620=)
c.1503A>C (p.Ala501=)
n.2561A>C
 ClinVar
2g.166280454G>ACA349079636SCN1A-AS1,SCN9Ac.2246C>T (p.Ala749Val)
c.2213C>T (p.Ala738Val)
c.1248C>T
n.1029+3207G>A
c.1859C>T (p.Ala620Val)
c.1502C>T (p.Ala501Val)
n.2560C>T
 ClinVar dbSNP gnomAD v4
2g.166280454G>CCA349079637SCN1A-AS1,SCN9Ac.2246C>G (p.Ala749Gly)
c.2213C>G (p.Ala738Gly)
c.1248C>G
n.1029+3207G>C
c.1859C>G (p.Ala620Gly)
c.1502C>G (p.Ala501Gly)
n.2560C>G
2g.166280454G=CA1304965727SCN1A-AS1,SCN9Ac.2246C= (p.Ala749=)
c.2213C= (p.Ala738=)
c.1248C=
n.1029+3207G=
c.1859C= (p.Ala620=)
c.1502C= (p.Ala501=)
n.2560C=
2g.166280454G>TCA59796624SCN1A-AS1,SCN9Ac.2246C>A (p.Ala749Glu)
c.2213C>A (p.Ala738Glu)
c.1248C>A
n.1029+3207G>T
c.1859C>A (p.Ala620Glu)
c.1502C>A (p.Ala501Glu)
n.2560C>A
 dbSNP
2g.166280455C>ACA349079638SCN1A-AS1,SCN9Ac.2245G>T (p.Ala749Ser)
c.2212G>T (p.Ala738Ser)
c.1247G>T
n.1029+3208C>A
c.1858G>T (p.Ala620Ser)
c.1501G>T (p.Ala501Ser)
n.2559G>T
 gnomAD v4
2g.166280455C>GCA349079639SCN1A-AS1,SCN9Ac.2245G>C (p.Ala749Pro)
c.2212G>C (p.Ala738Pro)
c.1247G>C
n.1029+3208C>G
c.1858G>C (p.Ala620Pro)
c.1501G>C (p.Ala501Pro)
n.2559G>C
2g.166280455C>TCA349079640SCN1A-AS1,SCN9Ac.2245G>A (p.Ala749Thr)
c.2212G>A (p.Ala738Thr)
c.1247G>A
n.1029+3208C>T
c.1858G>A (p.Ala620Thr)
c.1501G>A (p.Ala501Thr)
n.2559G>A
 gnomAD v4
2g.166280456A>CCA429902348SCN1A-AS1,SCN9Ac.2244T>G (p.Leu748=)
c.2211T>G (p.Leu737=)
c.1246T>G
n.1029+3209A>C
c.1857T>G (p.Leu619=)
c.1500T>G (p.Leu500=)
n.2558T>G
2g.166280456A>GCA429902347SCN1A-AS1,SCN9Ac.2244T>C (p.Leu748=)
c.2211T>C (p.Leu737=)
c.1246T>C
n.1029+3209A>G
c.1857T>C (p.Leu619=)
c.1500T>C (p.Leu500=)
n.2558T>C
 gnomAD v4
2g.166280456A>TCA429902343SCN1A-AS1,SCN9Ac.2244T>A (p.Leu748=)
c.2211T>A (p.Leu737=)
c.1246T>A
n.1029+3209A>T
c.1857T>A (p.Leu619=)
c.1500T>A (p.Leu500=)
n.2558T>A
2g.166280457A>CCA349079641SCN1A-AS1,SCN9Ac.2243T>G (p.Leu748Arg)
c.2210T>G (p.Leu737Arg)
c.1245T>G
n.1029+3210A>C
c.1856T>G (p.Leu619Arg)
c.1499T>G (p.Leu500Arg)
n.2557T>G
2g.166280457A>GCA349079642SCN1A-AS1,SCN9Ac.2243T>C (p.Leu748Pro)
c.2210T>C (p.Leu737Pro)
c.1245T>C
n.1029+3210A>G
c.1856T>C (p.Leu619Pro)
c.1499T>C (p.Leu500Pro)
n.2557T>C
2g.166280457A>TCA349079643SCN1A-AS1,SCN9Ac.2243T>A (p.Leu748His)
c.2210T>A (p.Leu737His)
c.1245T>A
n.1029+3210A>T
c.1856T>A (p.Leu619His)
c.1499T>A (p.Leu500His)
n.2557T>A
2g.166280458G>ACA349079644SCN1A-AS1,SCN9Ac.2242C>T (p.Leu748Phe)
c.2209C>T (p.Leu737Phe)
c.1244C>T
n.1029+3211G>A
c.1855C>T (p.Leu619Phe)
c.1498C>T (p.Leu500Phe)
n.2556C>T
2g.166280458G>CCA1944306SCN1A-AS1,SCN9Ac.2242C>G (p.Leu748Val)
c.2209C>G (p.Leu737Val)
c.1244C>G
n.1029+3211G>C
c.1855C>G (p.Leu619Val)
c.1498C>G (p.Leu500Val)
n.2556C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280458G=CA1304965729SCN1A-AS1,SCN9Ac.2242C= (p.Leu748=)
c.2209C= (p.Leu737=)
c.1244C=
n.1029+3211G=
c.1855C= (p.Leu619=)
c.1498C= (p.Leu500=)
n.2556C=
2g.166280458G>TCA349079645SCN1A-AS1,SCN9Ac.2242C>A (p.Leu748Ile)
c.2209C>A (p.Leu737Ile)
c.1244C>A
n.1029+3211G>T
c.1855C>A (p.Leu619Ile)
c.1498C>A (p.Leu500Ile)
n.2556C>A
2g.166280459A>CCA349079646SCN1A-AS1,SCN9Ac.2241T>G (p.Asp747Glu)
c.2208T>G (p.Asp736Glu)
c.1243T>G
n.1029+3212A>C
c.1854T>G (p.Asp618Glu)
c.1497T>G (p.Asp499Glu)
n.2555T>G
2g.166280459A>GCA429902354SCN1A-AS1,SCN9Ac.2241T>C (p.Asp747=)
c.2208T>C (p.Asp736=)
c.1243T>C
n.1029+3212A>G
c.1854T>C (p.Asp618=)
c.1497T>C (p.Asp499=)
n.2555T>C
 COSMIC COSMIC
2g.166280459A>TCA349079647SCN1A-AS1,SCN9Ac.2241T>A (p.Asp747Glu)
c.2208T>A (p.Asp736Glu)
c.1243T>A
n.1029+3212A>T
c.1854T>A (p.Asp618Glu)
c.1497T>A (p.Asp499Glu)
n.2555T>A
2g.166280460T>ACA59796647SCN1A-AS1,SCN9Ac.2240A>T (p.Asp747Val)
c.2207A>T (p.Asp736Val)
c.1242A>T
n.1029+3213T>A
c.1853A>T (p.Asp618Val)
c.1496A>T (p.Asp499Val)
n.2554A>T
 ClinVar dbSNP gnomAD v4
2g.166280460T>CCA349079648SCN1A-AS1,SCN9Ac.2240A>G (p.Asp747Gly)
c.2207A>G (p.Asp736Gly)
c.1242A>G
n.1029+3213T>C
c.1853A>G (p.Asp618Gly)
c.1496A>G (p.Asp499Gly)
n.2554A>G
 gnomAD v4
2g.166280460T>GCA1944307SCN1A-AS1,SCN9Ac.2240A>C (p.Asp747Ala)
c.2207A>C (p.Asp736Ala)
c.1242A>C
n.1029+3213T>G
c.1853A>C (p.Asp618Ala)
c.1496A>C (p.Asp499Ala)
n.2554A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280460T=CA1304965732SCN1A-AS1,SCN9Ac.2240A= (p.Asp747=)
c.2207A= (p.Asp736=)
c.1242A=
n.1029+3213T=
c.1853A= (p.Asp618=)
c.1496A= (p.Asp499=)
n.2554A=
2g.166280461C>ACA349079649SCN1A-AS1,SCN9Ac.2239G>T (p.Asp747Tyr)
c.2206G>T (p.Asp736Tyr)
c.1241G>T
n.1029+3214C>A
c.1852G>T (p.Asp618Tyr)
c.1495G>T (p.Asp499Tyr)
n.2553G>T
 dbSNP gnomAD v2
2g.166280461C=CA1304965736SCN1A-AS1,SCN9Ac.2239G= (p.Asp747=)
c.2206G= (p.Asp736=)
c.1241G=
n.1029+3214C=
c.1852G= (p.Asp618=)
c.1495G= (p.Asp499=)
n.2553G=
2g.166280461C>GCA349079651SCN1A-AS1,SCN9Ac.2239G>C (p.Asp747His)
c.2206G>C (p.Asp736His)
c.1241G>C
n.1029+3214C>G
c.1852G>C (p.Asp618His)
c.1495G>C (p.Asp499His)
n.2553G>C
 ClinVar dbSNP gnomAD v4
2g.166280461C>TCA349079650SCN1A-AS1,SCN9Ac.2239G>A (p.Asp747Asn)
c.2206G>A (p.Asp736Asn)
c.1241G>A
n.1029+3214C>T
c.1852G>A (p.Asp618Asn)
c.1495G>A (p.Asp499Asn)
n.2553G>A
2g.166280462T>ACA429902360SCN1A-AS1,SCN9Ac.2238A>T (p.Val746=)
c.2205A>T (p.Val735=)
c.1240A>T
n.1029+3215T>A
c.1851A>T (p.Val617=)
c.1494A>T (p.Val498=)
n.2552A>T
2g.166280462T>CCA429902362SCN1A-AS1,SCN9Ac.2238A>G (p.Val746=)
c.2205A>G (p.Val735=)
c.1240A>G
n.1029+3215T>C
c.1851A>G (p.Val617=)
c.1494A>G (p.Val498=)
n.2552A>G
 dbSNP
2g.166280462T>GCA429902361SCN1A-AS1,SCN9Ac.2238A>C (p.Val746=)
c.2205A>C (p.Val735=)
c.1240A>C
n.1029+3215T>G
c.1851A>C (p.Val617=)
c.1494A>C (p.Val498=)
n.2552A>C
2g.166280462T=CA1304965738SCN1A-AS1,SCN9Ac.2238A= (p.Val746=)
c.2205A= (p.Val735=)
c.1240A=
n.1029+3215T=
c.1851A= (p.Val617=)
c.1494A= (p.Val498=)
n.2552A=
2g.166280463A=CA1304965739SCN1A-AS1,SCN9Ac.2237T= (p.Val746=)
c.2204T= (p.Val735=)
c.1239T=
n.1029+3216A=
c.1850T= (p.Val617=)
c.1493T= (p.Val498=)
n.2551T=
2g.166280463A>CCA349079652SCN1A-AS1,SCN9Ac.2237T>G (p.Val746Gly)
c.2204T>G (p.Val735Gly)
c.1239T>G
n.1029+3216A>C
c.1850T>G (p.Val617Gly)
c.1493T>G (p.Val498Gly)
n.2551T>G
2g.166280463A>GCA349079654SCN1A-AS1,SCN9Ac.2237T>C (p.Val746Ala)
c.2204T>C (p.Val735Ala)
c.1239T>C
n.1029+3216A>G
c.1850T>C (p.Val617Ala)
c.1493T>C (p.Val498Ala)
n.2551T>C
 dbSNP
2g.166280463A>TCA349079653SCN1A-AS1,SCN9Ac.2237T>A (p.Val746Glu)
c.2204T>A (p.Val735Glu)
c.1239T>A
n.1029+3216A>T
c.1850T>A (p.Val617Glu)
c.1493T>A (p.Val498Glu)
n.2551T>A
2g.166280464C>ACA349079655SCN1A-AS1,SCN9Ac.2236G>T (p.Val746Leu)
c.2203G>T (p.Val735Leu)
c.1238G>T
n.1029+3217C>A
c.1849G>T (p.Val617Leu)
c.1492G>T (p.Val498Leu)
n.2550G>T
2g.166280464C>GCA349079656SCN1A-AS1,SCN9Ac.2236G>C (p.Val746Leu)
c.2203G>C (p.Val735Leu)
c.1238G>C
n.1029+3217C>G
c.1849G>C (p.Val617Leu)
c.1492G>C (p.Val498Leu)
n.2550G>C
2g.166280464C>TCA349079657SCN1A-AS1,SCN9Ac.2236G>A (p.Val746Ile)
c.2203G>A (p.Val735Ile)
c.1238G>A
n.1029+3217C>T
c.1849G>A (p.Val617Ile)
c.1492G>A (p.Val498Ile)
n.2550G>A
2g.166280465A>CCA349079658SCN1A-AS1,SCN9Ac.2235T>G (p.Phe745Leu)
c.2202T>G (p.Phe734Leu)
c.1237T>G
n.1029+3218A>C
c.1848T>G (p.Phe616Leu)
c.1491T>G (p.Phe497Leu)
n.2549T>G
2g.166280465A>GCA429902377SCN1A-AS1,SCN9Ac.2235T>C (p.Phe745=)
c.2202T>C (p.Phe734=)
c.1237T>C
n.1029+3218A>G
c.1848T>C (p.Phe616=)
c.1491T>C (p.Phe497=)
n.2549T>C
2g.166280465A>TCA349079659SCN1A-AS1,SCN9Ac.2235T>A (p.Phe745Leu)
c.2202T>A (p.Phe734Leu)
c.1237T>A
n.1029+3218A>T
c.1848T>A (p.Phe616Leu)
c.1491T>A (p.Phe497Leu)
n.2549T>A
2g.166280466A=CA1304965741SCN1A-AS1,SCN9Ac.2234T= (p.Phe745=)
c.2201T= (p.Phe734=)
c.1236T=
n.1029+3219A=
c.1847T= (p.Phe616=)
c.1490T= (p.Phe497=)
n.2548T=
2g.166280466A>CCA349079660SCN1A-AS1,SCN9Ac.2234T>G (p.Phe745Cys)
c.2201T>G (p.Phe734Cys)
c.1236T>G
n.1029+3219A>C
c.1847T>G (p.Phe616Cys)
c.1490T>G (p.Phe497Cys)
n.2548T>G
2g.166280466A>GCA59796649SCN1A-AS1,SCN9Ac.2234T>C (p.Phe745Ser)
c.2201T>C (p.Phe734Ser)
c.1236T>C
n.1029+3219A>G
c.1847T>C (p.Phe616Ser)
c.1490T>C (p.Phe497Ser)
n.2548T>C
 dbSNP
2g.166280466A>TCA349079661SCN1A-AS1,SCN9Ac.2234T>A (p.Phe745Tyr)
c.2201T>A (p.Phe734Tyr)
c.1236T>A
n.1029+3219A>T
c.1847T>A (p.Phe616Tyr)
c.1490T>A (p.Phe497Tyr)
n.2548T>A
2g.166280467A>CCA349079662SCN1A-AS1,SCN9Ac.2233T>G (p.Phe745Val)
c.2200T>G (p.Phe734Val)
c.1235T>G
n.1029+3220A>C
c.1846T>G (p.Phe616Val)
c.1489T>G (p.Phe497Val)
n.2547T>G
2g.166280467A>GCA349079663SCN1A-AS1,SCN9Ac.2233T>C (p.Phe745Leu)
c.2200T>C (p.Phe734Leu)
c.1235T>C
n.1029+3220A>G
c.1846T>C (p.Phe616Leu)
c.1489T>C (p.Phe497Leu)
n.2547T>C
2g.166280467A>TCA349079664SCN1A-AS1,SCN9Ac.2233T>A (p.Phe745Ile)
c.2200T>A (p.Phe734Ile)
c.1235T>A
n.1029+3220A>T
c.1846T>A (p.Phe616Ile)
c.1489T>A (p.Phe497Ile)
n.2547T>A
2g.166280468A>CCA429902387SCN1A-AS1,SCN9Ac.2232T>G (p.Pro744=)
c.2199T>G (p.Pro733=)
c.1234T>G
n.1029+3221A>C
c.1845T>G (p.Pro615=)
c.1488T>G (p.Pro496=)
n.2546T>G
2g.166280468A>GCA429902388SCN1A-AS1,SCN9Ac.2232T>C (p.Pro744=)
c.2199T>C (p.Pro733=)
c.1234T>C
n.1029+3221A>G
c.1845T>C (p.Pro615=)
c.1488T>C (p.Pro496=)
n.2546T>C
2g.166280468A>TCA429902390SCN1A-AS1,SCN9Ac.2232T>A (p.Pro744=)
c.2199T>A (p.Pro733=)
c.1234T>A
n.1029+3221A>T
c.1845T>A (p.Pro615=)
c.1488T>A (p.Pro496=)
n.2546T>A
2g.166280469G>ACA349079665SCN1A-AS1,SCN9Ac.2231C>T (p.Pro744Leu)
c.2198C>T (p.Pro733Leu)
c.1233C>T
n.1029+3222G>A
c.1844C>T (p.Pro615Leu)
c.1487C>T (p.Pro496Leu)
n.2545C>T
2g.166280469G>CCA349079666SCN1A-AS1,SCN9Ac.2231C>G (p.Pro744Arg)
c.2198C>G (p.Pro733Arg)
c.1233C>G
n.1029+3222G>C
c.1844C>G (p.Pro615Arg)
c.1487C>G (p.Pro496Arg)
n.2545C>G
 ClinVar gnomAD v4
2g.166280469G>TCA349079667SCN1A-AS1,SCN9Ac.2231C>A (p.Pro744His)
c.2198C>A (p.Pro733His)
c.1233C>A
n.1029+3222G>T
c.1844C>A (p.Pro615His)
c.1487C>A (p.Pro496His)
n.2545C>A
 ClinVar
2g.166280470delCA2661767709SCN1A-AS1,SCN9Ac.2231del (p.Pro744LeufsTer3)
c.2198del (p.Pro733LeufsTer3)
c.1233del
n.1029+3223del
c.1844del (p.Pro615LeufsTer3)
c.1487del (p.Pro496LeufsTer3)
n.2545del
 gnomAD v4
2g.166280470G>ACA59796652SCN1A-AS1,SCN9Ac.2230C>T (p.Pro744Ser)
c.2197C>T (p.Pro733Ser)
c.1232C>T
n.1029+3223G>A
c.1843C>T (p.Pro615Ser)
c.1486C>T (p.Pro496Ser)
n.2544C>T
 dbSNP COSMIC COSMIC
2g.166280470G>CCA349079669SCN1A-AS1,SCN9Ac.2230C>G (p.Pro744Ala)
c.2197C>G (p.Pro733Ala)
c.1232C>G
n.1029+3223G>C
c.1843C>G (p.Pro615Ala)
c.1486C>G (p.Pro496Ala)
n.2544C>G
2g.166280470G=CA1304965744SCN1A-AS1,SCN9Ac.2230C= (p.Pro744=)
c.2197C= (p.Pro733=)
c.1232C=
n.1029+3223G=
c.1843C= (p.Pro615=)
c.1486C= (p.Pro496=)
n.2544C=
2g.166280470G>TCA349079668SCN1A-AS1,SCN9Ac.2230C>A (p.Pro744Thr)
c.2197C>A (p.Pro733Thr)
c.1232C>A
n.1029+3223G>T
c.1843C>A (p.Pro615Thr)
c.1486C>A (p.Pro496Thr)
n.2544C>A
2g.166280471A>CCA349079670SCN1A-AS1,SCN9Ac.2229T>G (p.Asp743Glu)
c.2196T>G (p.Asp732Glu)
c.1231T>G
n.1029+3224A>C
c.1842T>G (p.Asp614Glu)
c.1485T>G (p.Asp495Glu)
n.2543T>G
2g.166280471A>GCA429902397SCN1A-AS1,SCN9Ac.2229T>C (p.Asp743=)
c.2196T>C (p.Asp732=)
c.1231T>C
n.1029+3224A>G
c.1842T>C (p.Asp614=)
c.1485T>C (p.Asp495=)
n.2543T>C
2g.166280471A>TCA349079671SCN1A-AS1,SCN9Ac.2229T>A (p.Asp743Glu)
c.2196T>A (p.Asp732Glu)
c.1231T>A
n.1029+3224A>T
c.1842T>A (p.Asp614Glu)
c.1485T>A (p.Asp495Glu)
n.2543T>A
2g.166280472T>ACA349079672SCN1A-AS1,SCN9Ac.2228A>T (p.Asp743Val)
c.2195A>T (p.Asp732Val)
c.1230A>T
n.1029+3225T>A
c.1841A>T (p.Asp614Val)
c.1484A>T (p.Asp495Val)
n.2542A>T
2g.166280472T>CCA349079673SCN1A-AS1,SCN9Ac.2228A>G (p.Asp743Gly)
c.2195A>G (p.Asp732Gly)
c.1230A>G
n.1029+3225T>C
c.1841A>G (p.Asp614Gly)
c.1484A>G (p.Asp495Gly)
n.2542A>G
2g.166280472T>GCA349079674SCN1A-AS1,SCN9Ac.2228A>C (p.Asp743Ala)
c.2195A>C (p.Asp732Ala)
c.1230A>C
n.1029+3225T>G
c.1841A>C (p.Asp614Ala)
c.1484A>C (p.Asp495Ala)
n.2542A>C
2g.166280473C>ACA349079675SCN1A-AS1,SCN9Ac.2227G>T (p.Asp743Tyr)
c.2194G>T (p.Asp732Tyr)
c.1229G>T
n.1029+3226C>A
c.1840G>T (p.Asp614Tyr)
c.1483G>T (p.Asp495Tyr)
n.2541G>T
 dbSNP gnomAD v2 gnomAD v4
2g.166280473C=CA1304965746SCN1A-AS1,SCN9Ac.2227G= (p.Asp743=)
c.2194G= (p.Asp732=)
c.1229G=
n.1029+3226C=
c.1840G= (p.Asp614=)
c.1483G= (p.Asp495=)
n.2541G=
2g.166280473C>GCA349079676SCN1A-AS1,SCN9Ac.2227G>C (p.Asp743His)
c.2194G>C (p.Asp732His)
c.1229G>C
n.1029+3226C>G
c.1840G>C (p.Asp614His)
c.1483G>C (p.Asp495His)
n.2541G>C
2g.166280473C>TCA349079677SCN1A-AS1,SCN9Ac.2227G>A (p.Asp743Asn)
c.2194G>A (p.Asp732Asn)
c.1229G>A
n.1029+3226C>T
c.1840G>A (p.Asp614Asn)
c.1483G>A (p.Asp495Asn)
n.2541G>A
 ClinVar gnomAD v4 COSMIC COSMIC
2g.166280474C>ACA349079678SCN1A-AS1,SCN9Ac.2226G>T (p.Met742Ile)
c.2193G>T (p.Met731Ile)
c.1228G>T
n.1029+3227C>A
c.1839G>T (p.Met613Ile)
c.1482G>T (p.Met494Ile)
n.2540G>T
2g.166280474C>GCA349079679SCN1A-AS1,SCN9Ac.2226G>C (p.Met742Ile)
c.2193G>C (p.Met731Ile)
c.1228G>C
n.1029+3227C>G
c.1839G>C (p.Met613Ile)
c.1482G>C (p.Met494Ile)
n.2540G>C
2g.166280474C>TCA349079680SCN1A-AS1,SCN9Ac.2226G>A (p.Met742Ile)
c.2193G>A (p.Met731Ile)
c.1228G>A
n.1029+3227C>T
c.1839G>A (p.Met613Ile)
c.1482G>A (p.Met494Ile)
n.2540G>A
2g.166280475A>CCA349079681SCN1A-AS1,SCN9Ac.2225T>G (p.Met742Arg)
c.2192T>G (p.Met731Arg)
c.1227T>G
n.1029+3228A>C
c.1838T>G (p.Met613Arg)
c.1481T>G (p.Met494Arg)
n.2539T>G
2g.166280475A>GCA349079682SCN1A-AS1,SCN9Ac.2225T>C (p.Met742Thr)
c.2192T>C (p.Met731Thr)
c.1227T>C
n.1029+3228A>G
c.1838T>C (p.Met613Thr)
c.1481T>C (p.Met494Thr)
n.2539T>C
2g.166280475A>TCA349079683SCN1A-AS1,SCN9Ac.2225T>A (p.Met742Lys)
c.2192T>A (p.Met731Lys)
c.1227T>A
n.1029+3228A>T
c.1838T>A (p.Met613Lys)
c.1481T>A (p.Met494Lys)
n.2539T>A
2g.166280476T>ACA349079686SCN1A-AS1,SCN9Ac.2224A>T (p.Met742Leu)
c.2191A>T (p.Met731Leu)
c.1226A>T
n.1029+3229T>A
c.1837A>T (p.Met613Leu)
c.1480A>T (p.Met494Leu)
n.2538A>T
2g.166280476T>CCA349079685SCN1A-AS1,SCN9Ac.2224A>G (p.Met742Val)
c.2191A>G (p.Met731Val)
c.1226A>G
n.1029+3229T>C
c.1837A>G (p.Met613Val)
c.1480A>G (p.Met494Val)
n.2538A>G
2g.166280476T>GCA349079684SCN1A-AS1,SCN9Ac.2224A>C (p.Met742Leu)
c.2191A>C (p.Met731Leu)
c.1226A>C
n.1029+3229T>G
c.1837A>C (p.Met613Leu)
c.1480A>C (p.Met494Leu)
n.2538A>C
2g.166280477T>ACA429902411SCN1A-AS1,SCN9Ac.2223A>T (p.Val741=)
c.2190A>T (p.Val730=)
c.1225A>T
n.1029+3230T>A
c.1836A>T (p.Val612=)
c.1479A>T (p.Val493=)
n.2537A>T
2g.166280477T>CCA429902414SCN1A-AS1,SCN9Ac.2223A>G (p.Val741=)
c.2190A>G (p.Val730=)
c.1225A>G
n.1029+3230T>C
c.1836A>G (p.Val612=)
c.1479A>G (p.Val493=)
n.2537A>G
2g.166280477T>GCA429902420SCN1A-AS1,SCN9Ac.2223A>C (p.Val741=)
c.2190A>C (p.Val730=)
c.1225A>C
n.1029+3230T>G
c.1836A>C (p.Val612=)
c.1479A>C (p.Val493=)
n.2537A>C
2g.166280478A=CA1304965751SCN1A-AS1,SCN9Ac.2222T= (p.Val741=)
c.2189T= (p.Val730=)
c.1224T=
n.1029+3231A=
c.1835T= (p.Val612=)
c.1478T= (p.Val493=)
n.2536T=
2g.166280478A>CCA349079687SCN1A-AS1,SCN9Ac.2222T>G (p.Val741Gly)
c.2189T>G (p.Val730Gly)
c.1224T>G
n.1029+3231A>C
c.1835T>G (p.Val612Gly)
c.1478T>G (p.Val493Gly)
n.2536T>G
 ClinVar dbSNP
2g.166280478A>GCA349079688SCN1A-AS1,SCN9Ac.2222T>C (p.Val741Ala)
c.2189T>C (p.Val730Ala)
c.1224T>C
n.1029+3231A>G
c.1835T>C (p.Val612Ala)
c.1478T>C (p.Val493Ala)
n.2536T>C
 gnomAD v4
2g.166280478A>TCA349079689SCN1A-AS1,SCN9Ac.2222T>A (p.Val741Glu)
c.2189T>A (p.Val730Glu)
c.1224T>A
n.1029+3231A>T
c.1835T>A (p.Val612Glu)
c.1478T>A (p.Val493Glu)
n.2536T>A
2g.166280479C>ACA349079690SCN1A-AS1,SCN9Ac.2221G>T (p.Val741Leu)
c.2188G>T (p.Val730Leu)
c.1223G>T
n.1029+3232C>A
c.1834G>T (p.Val612Leu)
c.1477G>T (p.Val493Leu)
n.2535G>T
2g.166280479C>GCA349079691SCN1A-AS1,SCN9Ac.2221G>C (p.Val741Leu)
c.2188G>C (p.Val730Leu)
c.1223G>C
n.1029+3232C>G
c.1834G>C (p.Val612Leu)
c.1477G>C (p.Val493Leu)
n.2535G>C
2g.166280479C>TCA349079692SCN1A-AS1,SCN9Ac.2221G>A (p.Val741Ile)
c.2188G>A (p.Val730Ile)
c.1223G>A
n.1029+3232C>T
c.1834G>A (p.Val612Ile)
c.1477G>A (p.Val493Ile)
n.2535G>A
2g.166280480A=CA1304965754SCN1A-AS1,SCN9Ac.2220T= (p.Ile740=)
c.2187T= (p.Ile729=)
c.1222T=
n.1029+3233A=
c.1833T= (p.Ile611=)
c.1476T= (p.Ile492=)
n.2534T=
2g.166280480A>CCA1944308SCN1A-AS1,SCN9Ac.2220T>G (p.Ile740Met)
c.2187T>G (p.Ile729Met)
c.1222T>G
n.1029+3233A>C
c.1833T>G (p.Ile611Met)
c.1476T>G (p.Ile492Met)
n.2534T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280480A>GCA429902432SCN1A-AS1,SCN9Ac.2220T>C (p.Ile740=)
c.2187T>C (p.Ile729=)
c.1222T>C
n.1029+3233A>G
c.1833T>C (p.Ile611=)
c.1476T>C (p.Ile492=)
n.2534T>C
2g.166280480A>TCA429902434SCN1A-AS1,SCN9Ac.2220T>A (p.Ile740=)
c.2187T>A (p.Ile729=)
c.1222T>A
n.1029+3233A>T
c.1833T>A (p.Ile611=)
c.1476T>A (p.Ile492=)
n.2534T>A
2g.166280484_166280488delCA2661767710SCN1A-AS1,SCN9Ac.2216_2220del (p.Phe739CysfsTer30)
c.2183_2187del (p.Phe728CysfsTer30)
c.1218_1222del
n.1029+3237_1029+3241del
c.1829_1833del (p.Phe610CysfsTer30)
c.1472_1476del (p.Phe491CysfsTer30)
n.2530_2534del
 gnomAD v4
2g.166280481A=CA1304965756SCN1A-AS1,SCN9Ac.2219T= (p.Ile740=)
c.2186T= (p.Ile729=)
c.1221T=
n.1029+3234A=
c.1832T= (p.Ile611=)
c.1475T= (p.Ile492=)
n.2533T=
2g.166280481A>CCA349079695SCN1A-AS1,SCN9Ac.2219T>G (p.Ile740Ser)
c.2186T>G (p.Ile729Ser)
c.1221T>G
n.1029+3234A>C
c.1832T>G (p.Ile611Ser)
c.1475T>G (p.Ile492Ser)
n.2533T>G
2g.166280481A>GCA349079693SCN1A-AS1,SCN9Ac.2219T>C (p.Ile740Thr)
c.2186T>C (p.Ile729Thr)
c.1221T>C
n.1029+3234A>G
c.1832T>C (p.Ile611Thr)
c.1475T>C (p.Ile492Thr)
n.2533T>C
 ClinVar dbSNP
2g.166280481A>TCA349079694SCN1A-AS1,SCN9Ac.2219T>A (p.Ile740Asn)
c.2186T>A (p.Ile729Asn)
c.1221T>A
n.1029+3234A>T
c.1832T>A (p.Ile611Asn)
c.1475T>A (p.Ile492Asn)
n.2533T>A
2g.166280482T>ACA349079696SCN1A-AS1,SCN9Ac.2218A>T (p.Ile740Phe)
c.2185A>T (p.Ile729Phe)
c.1220A>T
n.1029+3235T>A
c.1831A>T (p.Ile611Phe)
c.1474A>T (p.Ile492Phe)
n.2532A>T
2g.166280482T>CCA349079697SCN1A-AS1,SCN9Ac.2218A>G (p.Ile740Val)
c.2185A>G (p.Ile729Val)
c.1220A>G
n.1029+3235T>C
c.1831A>G (p.Ile611Val)
c.1474A>G (p.Ile492Val)
n.2532A>G
 gnomAD v4
2g.166280482T>GCA349079698SCN1A-AS1,SCN9Ac.2218A>C (p.Ile740Leu)
c.2185A>C (p.Ile729Leu)
c.1220A>C
n.1029+3235T>G
c.1831A>C (p.Ile611Leu)
c.1474A>C (p.Ile492Leu)
n.2532A>C
2g.166280483A>CCA349079699SCN1A-AS1,SCN9Ac.2217T>G (p.Phe739Leu)
c.2184T>G (p.Phe728Leu)
c.1219T>G
n.1029+3236A>C
c.1830T>G (p.Phe610Leu)
c.1473T>G (p.Phe491Leu)
n.2531T>G
2g.166280483A>GCA429902443SCN1A-AS1,SCN9Ac.2217T>C (p.Phe739=)
c.2184T>C (p.Phe728=)
c.1219T>C
n.1029+3236A>G
c.1830T>C (p.Phe610=)
c.1473T>C (p.Phe491=)
n.2531T>C
2g.166280483A>TCA349079700SCN1A-AS1,SCN9Ac.2217T>A (p.Phe739Leu)
c.2184T>A (p.Phe728Leu)
c.1219T>A
n.1029+3236A>T
c.1830T>A (p.Phe610Leu)
c.1473T>A (p.Phe491Leu)
n.2531T>A
2g.166280486dupCA2580064366SCN1A-AS1,SCN9Ac.2217dup (p.Ile740TyrfsTer?)
c.2184dup (p.Ile729TyrfsTer?)
c.1219dup
n.1029+3239dup
c.1830dup (p.Ile611TyrfsTer?)
c.1473dup (p.Ile492TyrfsTer?)
n.2531dup
 ClinVar
2g.166280484A=CA1304965758SCN1A-AS1,SCN9Ac.2216T= (p.Phe739=)
c.2183T= (p.Phe728=)
c.1218T=
n.1029+3237A=
c.1829T= (p.Phe610=)
c.1472T= (p.Phe491=)
n.2530T=
2g.166280484A>CCA349079701SCN1A-AS1,SCN9Ac.2216T>G (p.Phe739Cys)
c.2183T>G (p.Phe728Cys)
c.1218T>G
n.1029+3237A>C
c.1829T>G (p.Phe610Cys)
c.1472T>G (p.Phe491Cys)
n.2530T>G
2g.166280484A>GCA349079703SCN1A-AS1,SCN9Ac.2216T>C (p.Phe739Ser)
c.2183T>C (p.Phe728Ser)
c.1218T>C
n.1029+3237A>G
c.1829T>C (p.Phe610Ser)
c.1472T>C (p.Phe491Ser)
n.2530T>C
 ClinVar dbSNP
2g.166280484A>TCA349079702SCN1A-AS1,SCN9Ac.2216T>A (p.Phe739Tyr)
c.2183T>A (p.Phe728Tyr)
c.1218T>A
n.1029+3237A>T
c.1829T>A (p.Phe610Tyr)
c.1472T>A (p.Phe491Tyr)
n.2530T>A
2g.166280485A>CCA349079704SCN1A-AS1,SCN9Ac.2215T>G (p.Phe739Val)
c.2182T>G (p.Phe728Val)
c.1217T>G
n.1029+3238A>C
c.1828T>G (p.Phe610Val)
c.1471T>G (p.Phe491Val)
n.2529T>G
2g.166280485A>GCA349079705SCN1A-AS1,SCN9Ac.2215T>C (p.Phe739Leu)
c.2182T>C (p.Phe728Leu)
c.1217T>C
n.1029+3238A>G
c.1828T>C (p.Phe610Leu)
c.1471T>C (p.Phe491Leu)
n.2529T>C
2g.166280485A>TCA349079706SCN1A-AS1,SCN9Ac.2215T>A (p.Phe739Ile)
c.2182T>A (p.Phe728Ile)
c.1217T>A
n.1029+3238A>T
c.1828T>A (p.Phe610Ile)
c.1471T>A (p.Phe491Ile)
n.2529T>A
2g.166280486A>CCA349079707SCN1A-AS1,SCN9Ac.2214T>G (p.Tyr738Ter)
c.2181T>G (p.Tyr727Ter)
c.1216T>G
n.1029+3239A>C
c.1827T>G (p.Tyr609Ter)
c.1470T>G (p.Tyr490Ter)
n.2528T>G
2g.166280486A>GCA429902457SCN1A-AS1,SCN9Ac.2214T>C (p.Tyr738=)
c.2181T>C (p.Tyr727=)
c.1216T>C
n.1029+3239A>G
c.1827T>C (p.Tyr609=)
c.1470T>C (p.Tyr490=)
n.2528T>C
2g.166280486A>TCA349079708SCN1A-AS1,SCN9Ac.2214T>A (p.Tyr738Ter)
c.2181T>A (p.Tyr727Ter)
c.1216T>A
n.1029+3239A>T
c.1827T>A (p.Tyr609Ter)
c.1470T>A (p.Tyr490Ter)
n.2528T>A
2g.166280487T>ACA349079709SCN1A-AS1,SCN9Ac.2213A>T (p.Tyr738Phe)
c.2180A>T (p.Tyr727Phe)
c.1215A>T
n.1029+3240T>A
c.1826A>T (p.Tyr609Phe)
c.1469A>T (p.Tyr490Phe)
n.2527A>T
2g.166280487T>CCA349079710SCN1A-AS1,SCN9Ac.2213A>G (p.Tyr738Cys)
c.2180A>G (p.Tyr727Cys)
c.1215A>G
n.1029+3240T>C
c.1826A>G (p.Tyr609Cys)
c.1469A>G (p.Tyr490Cys)
n.2527A>G
 gnomAD v4
2g.166280487T>GCA349079711SCN1A-AS1,SCN9Ac.2213A>C (p.Tyr738Ser)
c.2180A>C (p.Tyr727Ser)
c.1215A>C
n.1029+3240T>G
c.1826A>C (p.Tyr609Ser)
c.1469A>C (p.Tyr490Ser)
n.2527A>C
2g.166280487_166280488delinsTACA1304965759SCN1A-AS1,SCN9Ac.2212_2213delinsTA (p.Tyr738=)
c.2179_2180delinsTA (p.Tyr727=)
c.1214_1215delinsTA
n.1029+3240_1029+3241delinsTA
c.1825_1826delinsTA (p.Tyr609=)
c.1468_1469delinsTA (p.Tyr490=)
n.2526_2527delinsTA
2g.166280488delCA916701038SCN1A-AS1,SCN9Ac.2212del (p.Tyr738IlefsTer4)
c.2179del (p.Tyr727IlefsTer4)
c.1214del
n.1029+3241del
c.1825del (p.Tyr609IlefsTer4)
c.1468del (p.Tyr490IlefsTer4)
n.2526del
 dbSNP gnomAD v3 gnomAD v4
2g.166280488A=CA1304965761SCN1A-AS1,SCN9Ac.2212T= (p.Tyr738=)
c.2179T= (p.Tyr727=)
c.1214T=
n.1029+3241A=
c.1825T= (p.Tyr609=)
c.1468T= (p.Tyr490=)
n.2526T=
2g.166280488A>CCA349079712SCN1A-AS1,SCN9Ac.2212T>G (p.Tyr738Asp)
c.2179T>G (p.Tyr727Asp)
c.1214T>G
n.1029+3241A>C
c.1825T>G (p.Tyr609Asp)
c.1468T>G (p.Tyr490Asp)
n.2526T>G
2g.166280488A>GCA349079713SCN1A-AS1,SCN9Ac.2212T>C (p.Tyr738His)
c.2179T>C (p.Tyr727His)
c.1214T>C
n.1029+3241A>G
c.1825T>C (p.Tyr609His)
c.1468T>C (p.Tyr490His)
n.2526T>C
 dbSNP
2g.166280488A>TCA349079714SCN1A-AS1,SCN9Ac.2212T>A (p.Tyr738Asn)
c.2179T>A (p.Tyr727Asn)
c.1214T>A
n.1029+3241A>T
c.1825T>A (p.Tyr609Asn)
c.1468T>A (p.Tyr490Asn)
n.2526T>A
2g.166280489G>ACA429902460SCN1A-AS1,SCN9Ac.2211C>T (p.Ile737=)
c.2178C>T (p.Ile726=)
c.1213C>T
n.1029+3242G>A
c.1824C>T (p.Ile608=)
c.1467C>T (p.Ile489=)
n.2525C>T
 COSMIC COSMIC
2g.166280489G>CCA349079715SCN1A-AS1,SCN9Ac.2211C>G (p.Ile737Met)
c.2178C>G (p.Ile726Met)
c.1213C>G
n.1029+3242G>C
c.1824C>G (p.Ile608Met)
c.1467C>G (p.Ile489Met)
n.2525C>G
 gnomAD v4
2g.166280489G>TCA429902461SCN1A-AS1,SCN9Ac.2211C>A (p.Ile737=)
c.2178C>A (p.Ile726=)
c.1213C>A
n.1029+3242G>T
c.1824C>A (p.Ile608=)
c.1467C>A (p.Ile489=)
n.2525C>A
2g.166280490A=CA1304965763SCN1A-AS1,SCN9Ac.2210T= (p.Ile737=)
c.2177T= (p.Ile726=)
c.1212T=
n.1029+3243A=
c.1823T= (p.Ile608=)
c.1466T= (p.Ile489=)
n.2524T=
2g.166280490A>CCA349079716SCN1A-AS1,SCN9Ac.2210T>G (p.Ile737Ser)
c.2177T>G (p.Ile726Ser)
c.1212T>G
n.1029+3243A>C
c.1823T>G (p.Ile608Ser)
c.1466T>G (p.Ile489Ser)
n.2524T>G
2g.166280490A>GCA1944309SCN1A-AS1,SCN9Ac.2210T>C (p.Ile737Thr)
c.2177T>C (p.Ile726Thr)
c.1212T>C
n.1029+3243A>G
c.1823T>C (p.Ile608Thr)
c.1466T>C (p.Ile489Thr)
n.2524T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280490A>TCA349079717SCN1A-AS1,SCN9Ac.2210T>A (p.Ile737Asn)
c.2177T>A (p.Ile726Asn)
c.1212T>A
n.1029+3243A>T
c.1823T>A (p.Ile608Asn)
c.1466T>A (p.Ile489Asn)
n.2524T>A
2g.166280491T>ACA349079718SCN1A-AS1,SCN9Ac.2209A>T (p.Ile737Phe)
c.2176A>T (p.Ile726Phe)
c.1211A>T
n.1029+3244T>A
c.1822A>T (p.Ile608Phe)
c.1465A>T (p.Ile489Phe)
n.2523A>T
2g.166280491T>CCA349079720SCN1A-AS1,SCN9Ac.2209A>G (p.Ile737Val)
c.2176A>G (p.Ile726Val)
c.1211A>G
n.1029+3244T>C
c.1822A>G (p.Ile608Val)
c.1465A>G (p.Ile489Val)
n.2523A>G
 gnomAD v4
2g.166280491T>GCA349079719SCN1A-AS1,SCN9Ac.2209A>C (p.Ile737Leu)
c.2176A>C (p.Ile726Leu)
c.1211A>C
n.1029+3244T>G
c.1822A>C (p.Ile608Leu)
c.1465A>C (p.Ile489Leu)
n.2523A>C
2g.166280492A=CA1304965764SCN1A-AS1,SCN9Ac.2208T= (p.Cys736=)
c.2175T= (p.Cys725=)
c.1210T=
n.1029+3245A=
c.1821T= (p.Cys607=)
c.1464T= (p.Cys488=)
n.2522T=
2g.166280492A>CCA349079721SCN1A-AS1,SCN9Ac.2208T>G (p.Cys736Trp)
c.2175T>G (p.Cys725Trp)
c.1210T>G
n.1029+3245A>C
c.1821T>G (p.Cys607Trp)
c.1464T>G (p.Cys488Trp)
n.2522T>G
2g.166280492A>GCA429902466SCN1A-AS1,SCN9Ac.2208T>C (p.Cys736=)
c.2175T>C (p.Cys725=)
c.1210T>C
n.1029+3245A>G
c.1821T>C (p.Cys607=)
c.1464T>C (p.Cys488=)
n.2522T>C
 gnomAD v4
2g.166280492A>TCA349079722SCN1A-AS1,SCN9Ac.2208T>A (p.Cys736Ter)
c.2175T>A (p.Cys725Ter)
c.1210T>A
n.1029+3245A>T
c.1821T>A (p.Cys607Ter)
c.1464T>A (p.Cys488Ter)
n.2522T>A
 dbSNP
2g.166280493C>ACA349079723SCN1A-AS1,SCN9Ac.2207G>T (p.Cys736Phe)
c.2174G>T (p.Cys725Phe)
c.1209G>T
n.1029+3246C>A
c.1820G>T (p.Cys607Phe)
c.1463G>T (p.Cys488Phe)
n.2521G>T
2g.166280493C>GCA349079724SCN1A-AS1,SCN9Ac.2207G>C (p.Cys736Ser)
c.2174G>C (p.Cys725Ser)
c.1209G>C
n.1029+3246C>G
c.1820G>C (p.Cys607Ser)
c.1463G>C (p.Cys488Ser)
n.2521G>C
 COSMIC COSMIC
2g.166280493C>TCA349079725SCN1A-AS1,SCN9Ac.2207G>A (p.Cys736Tyr)
c.2174G>A (p.Cys725Tyr)
c.1209G>A
n.1029+3246C>T
c.1820G>A (p.Cys607Tyr)
c.1463G>A (p.Cys488Tyr)
n.2521G>A
 gnomAD v4
2g.166280494A>CCA349079726SCN1A-AS1,SCN9Ac.2206T>G (p.Cys736Gly)
c.2173T>G (p.Cys725Gly)
c.1208T>G
n.1029+3247A>C
c.1819T>G (p.Cys607Gly)
c.1462T>G (p.Cys488Gly)
n.2520T>G
2g.166280494A>GCA349079727SCN1A-AS1,SCN9Ac.2206T>C (p.Cys736Arg)
c.2173T>C (p.Cys725Arg)
c.1208T>C
n.1029+3247A>G
c.1819T>C (p.Cys607Arg)
c.1462T>C (p.Cys488Arg)
n.2520T>C
 COSMIC COSMIC
2g.166280494A>TCA349079728SCN1A-AS1,SCN9Ac.2206T>A (p.Cys736Ser)
c.2173T>A (p.Cys725Ser)
c.1208T>A
n.1029+3247A>T
c.1819T>A (p.Cys607Ser)
c.1462T>A (p.Cys488Ser)
n.2520T>A
2g.166280495C>ACA349079729SCN1A-AS1,SCN9Ac.2205G>T (p.Lys735Asn)
c.2172G>T (p.Lys724Asn)
c.1207G>T
n.1029+3248C>A
c.1818G>T (p.Lys606Asn)
c.1461G>T (p.Lys487Asn)
n.2519G>T
 COSMIC COSMIC
2g.166280495C=CA1304965768SCN1A-AS1,SCN9Ac.2205G= (p.Lys735=)
c.2172G= (p.Lys724=)
c.1207G=
n.1029+3248C=
c.1818G= (p.Lys606=)
c.1461G= (p.Lys487=)
n.2519G=
2g.166280495C>GCA1944310SCN1A-AS1,SCN9Ac.2205G>C (p.Lys735Asn)
c.2172G>C (p.Lys724Asn)
c.1207G>C
n.1029+3248C>G
c.1818G>C (p.Lys606Asn)
c.1461G>C (p.Lys487Asn)
n.2519G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280495C>TCA429902472SCN1A-AS1,SCN9Ac.2205G>A (p.Lys735=)
c.2172G>A (p.Lys724=)
c.1207G>A
n.1029+3248C>T
c.1818G>A (p.Lys606=)
c.1461G>A (p.Lys487=)
n.2519G>A
 ClinVar
2g.166280495_166280497delinsCTTCA1304965767SCN1A-AS1,SCN9Ac.2203_2205delinsAAG (p.Lys735=)
c.2170_2172delinsAAG (p.Lys724=)
c.1205_1207delinsAAG
n.1029+3248_1029+3250delinsCTT
c.1816_1818delinsAAG (p.Lys606=)
c.1459_1461delinsAAG (p.Lys487=)
n.2517_2519delinsAAG
2g.166280496T>ACA349079730SCN1A-AS1,SCN9Ac.2204A>T (p.Lys735Met)
c.2171A>T (p.Lys724Met)
c.1206A>T
n.1029+3249T>A
c.1817A>T (p.Lys606Met)
c.1460A>T (p.Lys487Met)
n.2518A>T
2g.166280496T>CCA349079731SCN1A-AS1,SCN9Ac.2204A>G (p.Lys735Arg)
c.2171A>G (p.Lys724Arg)
c.1206A>G
n.1029+3249T>C
c.1817A>G (p.Lys606Arg)
c.1460A>G (p.Lys487Arg)
n.2518A>G
 gnomAD v4
2g.166280496T>GCA349079732SCN1A-AS1,SCN9Ac.2204A>C (p.Lys735Thr)
c.2171A>C (p.Lys724Thr)
c.1206A>C
n.1029+3249T>G
c.1817A>C (p.Lys606Thr)
c.1460A>C (p.Lys487Thr)
n.2518A>C
 dbSNP gnomAD v2 gnomAD v4
2g.166280496T=CA1304965773SCN1A-AS1,SCN9Ac.2204A= (p.Lys735=)
c.2171A= (p.Lys724=)
c.1206A=
n.1029+3249T=
c.1817A= (p.Lys606=)
c.1460A= (p.Lys487=)
n.2518A=
2g.166280500delCA2499215222SCN1A-AS1,SCN9Ac.2204del (p.Lys735SerfsTer7)
c.2171del (p.Lys724SerfsTer7)
c.1206del
n.1029+3253del
c.1817del (p.Lys606SerfsTer7)
c.1460del (p.Lys487SerfsTer7)
n.2518del
 ClinVar dbSNP
2g.166280499_166280500delCA760211502SCN1A-AS1,SCN9Ac.2203_2204del (p.Lys735ValfsTer?)
c.2170_2171del (p.Lys724ValfsTer?)
c.1205_1206del
n.1029+3252_1029+3253del
c.1816_1817del (p.Lys606ValfsTer?)
c.1459_1460del (p.Lys487ValfsTer?)
n.2517_2518del
 dbSNP gnomAD v3 gnomAD v4
2g.166280497T>ACA349079733SCN1A-AS1,SCN9Ac.2203A>T (p.Lys735Ter)
c.2170A>T (p.Lys724Ter)
c.1205A>T
n.1029+3250T>A
c.1816A>T (p.Lys606Ter)
c.1459A>T (p.Lys487Ter)
n.2517A>T
2g.166280497T>CCA349079735SCN1A-AS1,SCN9Ac.2203A>G (p.Lys735Glu)
c.2170A>G (p.Lys724Glu)
c.1205A>G
n.1029+3250T>C
c.1816A>G (p.Lys606Glu)
c.1459A>G (p.Lys487Glu)
n.2517A>G
2g.166280497T>GCA349079734SCN1A-AS1,SCN9Ac.2203A>C (p.Lys735Gln)
c.2170A>C (p.Lys724Gln)
c.1205A>C
n.1029+3250T>G
c.1816A>C (p.Lys606Gln)
c.1459A>C (p.Lys487Gln)
n.2517A>C
2g.166280498T>ACA349079736SCN1A-AS1,SCN9Ac.2202A>T (p.Lys734Asn)
c.2169A>T (p.Lys723Asn)
c.1204A>T
n.1029+3251T>A
c.1815A>T (p.Lys605Asn)
c.1458A>T (p.Lys486Asn)
n.2516A>T
2g.166280498T>CCA429902476SCN1A-AS1,SCN9Ac.2202A>G (p.Lys734=)
c.2169A>G (p.Lys723=)
c.1204A>G
n.1029+3251T>C
c.1815A>G (p.Lys605=)
c.1458A>G (p.Lys486=)
n.2516A>G
 ClinVar dbSNP gnomAD v4
2g.166280498T>GCA349079737SCN1A-AS1,SCN9Ac.2202A>C (p.Lys734Asn)
c.2169A>C (p.Lys723Asn)
c.1204A>C
n.1029+3251T>G
c.1815A>C (p.Lys605Asn)
c.1458A>C (p.Lys486Asn)
n.2516A>C
2g.166280499T>ACA349079738SCN1A-AS1,SCN9Ac.2201A>T (p.Lys734Ile)
c.2168A>T (p.Lys723Ile)
c.1203A>T
n.1029+3252T>A
c.1814A>T (p.Lys605Ile)
c.1457A>T (p.Lys486Ile)
n.2515A>T
2g.166280499T>CCA349079739SCN1A-AS1,SCN9Ac.2201A>G (p.Lys734Arg)
c.2168A>G (p.Lys723Arg)
c.1203A>G
n.1029+3252T>C
c.1814A>G (p.Lys605Arg)
c.1457A>G (p.Lys486Arg)
n.2515A>G
 ClinVar dbSNP gnomAD v4
2g.166280499T>GCA349079740SCN1A-AS1,SCN9Ac.2201A>C (p.Lys734Thr)
c.2168A>C (p.Lys723Thr)
c.1203A>C
n.1029+3252T>G
c.1814A>C (p.Lys605Thr)
c.1457A>C (p.Lys486Thr)
n.2515A>C
2g.166280499T=CA1304965775SCN1A-AS1,SCN9Ac.2201A= (p.Lys734=)
c.2168A= (p.Lys723=)
c.1203A=
n.1029+3252T=
c.1814A= (p.Lys605=)
c.1457A= (p.Lys486=)
n.2515A=
2g.166280500T>ACA349079741SCN1A-AS1,SCN9Ac.2200A>T (p.Lys734Ter)
c.2167A>T (p.Lys723Ter)
c.1202A>T
n.1029+3253T>A
c.1813A>T (p.Lys605Ter)
c.1456A>T (p.Lys486Ter)
n.2514A>T
 dbSNP
2g.166280500T>CCA349079742SCN1A-AS1,SCN9Ac.2200A>G (p.Lys734Glu)
c.2167A>G (p.Lys723Glu)
c.1202A>G
n.1029+3253T>C
c.1813A>G (p.Lys605Glu)
c.1456A>G (p.Lys486Glu)
n.2514A>G
 dbSNP
2g.166280500T>GCA349079743SCN1A-AS1,SCN9Ac.2200A>C (p.Lys734Gln)
c.2167A>C (p.Lys723Gln)
c.1202A>C
n.1029+3253T>G
c.1813A>C (p.Lys605Gln)
c.1456A>C (p.Lys486Gln)
n.2514A>C
2g.166280500T=CA1304965777SCN1A-AS1,SCN9Ac.2200A= (p.Lys734=)
c.2167A= (p.Lys723=)
c.1202A=
n.1029+3253T=
c.1813A= (p.Lys605=)
c.1456A= (p.Lys486=)
n.2514A=
2g.166280501delCA2661767711SCN1A-AS1,SCN9Ac.2199del (p.Phe733LeufsTer9)
c.2166del (p.Phe722LeufsTer9)
c.1201del
n.1029+3254del
c.1812del (p.Phe604LeufsTer9)
c.1455del (p.Phe485LeufsTer9)
n.2513del
 gnomAD v4
2g.166280501G>ACA429902484SCN1A-AS1,SCN9Ac.2199C>T (p.Phe733=)
c.2166C>T (p.Phe722=)
c.1201C>T
n.1029+3254G>A
c.1812C>T (p.Phe604=)
c.1455C>T (p.Phe485=)
n.2513C>T
 gnomAD v4
2g.166280501G>CCA349079744SCN1A-AS1,SCN9Ac.2199C>G (p.Phe733Leu)
c.2166C>G (p.Phe722Leu)
c.1201C>G
n.1029+3254G>C
c.1812C>G (p.Phe604Leu)
c.1455C>G (p.Phe485Leu)
n.2513C>G
2g.166280501G>TCA349079745SCN1A-AS1,SCN9Ac.2199C>A (p.Phe733Leu)
c.2166C>A (p.Phe722Leu)
c.1201C>A
n.1029+3254G>T
c.1812C>A (p.Phe604Leu)
c.1455C>A (p.Phe485Leu)
n.2513C>A
 gnomAD v4
2g.166280502A=CA1304965779SCN1A-AS1,SCN9Ac.2198T= (p.Phe733=)
c.2165T= (p.Phe722=)
c.1200T=
n.1029+3255A=
c.1811T= (p.Phe604=)
c.1454T= (p.Phe485=)
n.2512T=
2g.166280502A>CCA59796661SCN1A-AS1,SCN9Ac.2198T>G (p.Phe733Cys)
c.2165T>G (p.Phe722Cys)
c.1200T>G
n.1029+3255A>C
c.1811T>G (p.Phe604Cys)
c.1454T>G (p.Phe485Cys)
n.2512T>G
 dbSNP
2g.166280502A>GCA349079747SCN1A-AS1,SCN9Ac.2198T>C (p.Phe733Ser)
c.2165T>C (p.Phe722Ser)
c.1200T>C
n.1029+3255A>G
c.1811T>C (p.Phe604Ser)
c.1454T>C (p.Phe485Ser)
n.2512T>C
2g.166280502A>TCA349079746SCN1A-AS1,SCN9Ac.2198T>A (p.Phe733Tyr)
c.2165T>A (p.Phe722Tyr)
c.1200T>A
n.1029+3255A>T
c.1811T>A (p.Phe604Tyr)
c.1454T>A (p.Phe485Tyr)
n.2512T>A
2g.166280503A>CCA349079748SCN1A-AS1,SCN9Ac.2197T>G (p.Phe733Val)
c.2164T>G (p.Phe722Val)
c.1199T>G
n.1029+3256A>C
c.1810T>G (p.Phe604Val)
c.1453T>G (p.Phe485Val)
n.2511T>G
2g.166280503A>GCA349079749SCN1A-AS1,SCN9Ac.2197T>C (p.Phe733Leu)
c.2164T>C (p.Phe722Leu)
c.1199T>C
n.1029+3256A>G
c.1810T>C (p.Phe604Leu)
c.1453T>C (p.Phe485Leu)
n.2511T>C
 gnomAD v4
2g.166280503A>TCA349079750SCN1A-AS1,SCN9Ac.2197T>A (p.Phe733Ile)
c.2164T>A (p.Phe722Ile)
c.1199T>A
n.1029+3256A>T
c.1810T>A (p.Phe604Ile)
c.1453T>A (p.Phe485Ile)
n.2511T>A
2g.166280504T>ACA349079751SCN1A-AS1,SCN9Ac.2196A>T (p.Lys732Asn)
c.2163A>T (p.Lys721Asn)
c.1198A>T
n.1029+3257T>A
c.1809A>T (p.Lys603Asn)
c.1452A>T (p.Lys484Asn)
n.2510A>T
2g.166280504T>CCA429902489SCN1A-AS1,SCN9Ac.2196A>G (p.Lys732=)
c.2163A>G (p.Lys721=)
c.1198A>G
n.1029+3257T>C
c.1809A>G (p.Lys603=)
c.1452A>G (p.Lys484=)
n.2510A>G
 ClinVar
2g.166280504T>GCA349079752SCN1A-AS1,SCN9Ac.2196A>C (p.Lys732Asn)
c.2163A>C (p.Lys721Asn)
c.1198A>C
n.1029+3257T>G
c.1809A>C (p.Lys603Asn)
c.1452A>C (p.Lys484Asn)
n.2510A>C
2g.166280505T>ACA349079753SCN1A-AS1,SCN9Ac.2195A>T (p.Lys732Ile)
c.2162A>T (p.Lys721Ile)
c.1197A>T
n.1029+3258T>A
c.1808A>T (p.Lys603Ile)
c.1451A>T (p.Lys484Ile)
n.2509A>T
2g.166280505T>CCA349079754SCN1A-AS1,SCN9Ac.2195A>G (p.Lys732Arg)
c.2162A>G (p.Lys721Arg)
c.1197A>G
n.1029+3258T>C
c.1808A>G (p.Lys603Arg)
c.1451A>G (p.Lys484Arg)
n.2509A>G
 dbSNP
2g.166280505T>GCA349079755SCN1A-AS1,SCN9Ac.2195A>C (p.Lys732Thr)
c.2162A>C (p.Lys721Thr)
c.1197A>C
n.1029+3258T>G
c.1808A>C (p.Lys603Thr)
c.1451A>C (p.Lys484Thr)
n.2509A>C
 gnomAD v4
2g.166280505T=CA1304965781SCN1A-AS1,SCN9Ac.2195A= (p.Lys732=)
c.2162A= (p.Lys721=)
c.1197A=
n.1029+3258T=
c.1808A= (p.Lys603=)
c.1451A= (p.Lys484=)
n.2509A=
2g.166280506T>ACA349079756SCN1A-AS1,SCN9Ac.2194A>T (p.Lys732Ter)
c.2161A>T (p.Lys721Ter)
c.1196A>T
n.1029+3259T>A
c.1807A>T (p.Lys603Ter)
c.1450A>T (p.Lys484Ter)
n.2508A>T
 dbSNP
2g.166280506T>CCA349079757SCN1A-AS1,SCN9Ac.2194A>G (p.Lys732Glu)
c.2161A>G (p.Lys721Glu)
c.1196A>G
n.1029+3259T>C
c.1807A>G (p.Lys603Glu)
c.1450A>G (p.Lys484Glu)
n.2508A>G
2g.166280506T>GCA349079758SCN1A-AS1,SCN9Ac.2194A>C (p.Lys732Gln)
c.2161A>C (p.Lys721Gln)
c.1196A>C
n.1029+3259T>G
c.1807A>C (p.Lys603Gln)
c.1450A>C (p.Lys484Gln)
n.2508A>C
 dbSNP gnomAD v4
2g.166280506T=CA1304965784SCN1A-AS1,SCN9Ac.2194A= (p.Lys732=)
c.2161A= (p.Lys721=)
c.1196A=
n.1029+3259T=
c.1807A= (p.Lys603=)
c.1450A= (p.Lys484=)
n.2508A=

Number of alleles fetched