Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched