Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=

Number of alleles fetched