Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched