Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=
2g.166280507T>ACA429902496SCN1A-AS1,SCN9Ac.2193A>T (p.Ile731=)
c.2160A>T (p.Ile720=)
c.1195A>T
n.1029+3260T>A
c.1806A>T (p.Ile602=)
c.1449A>T (p.Ile483=)
n.2507A>T
2g.166280507T>CCA349079759SCN1A-AS1,SCN9Ac.2193A>G (p.Ile731Met)
c.2160A>G (p.Ile720Met)
c.1195A>G
n.1029+3260T>C
c.1806A>G (p.Ile602Met)
c.1449A>G (p.Ile483Met)
n.2507A>G
 dbSNP gnomAD v3 gnomAD v4
2g.166280507T>GCA429902498SCN1A-AS1,SCN9Ac.2193A>C (p.Ile731=)
c.2160A>C (p.Ile720=)
c.1195A>C
n.1029+3260T>G
c.1806A>C (p.Ile602=)
c.1449A>C (p.Ile483=)
n.2507A>C
2g.166280507T=CA1304965786SCN1A-AS1,SCN9Ac.2193A= (p.Ile731=)
c.2160A= (p.Ile720=)
c.1195A=
n.1029+3260T=
c.1806A= (p.Ile602=)
c.1449A= (p.Ile483=)
n.2507A=
2g.166280508A=CA1304965791SCN1A-AS1,SCN9Ac.2192T= (p.Ile731=)
c.2159T= (p.Ile720=)
c.1194T=
n.1029+3261A=
c.1805T= (p.Ile602=)
c.1448T= (p.Ile483=)
n.2506T=
2g.166280508A>CCA349079760SCN1A-AS1,SCN9Ac.2192T>G (p.Ile731Arg)
c.2159T>G (p.Ile720Arg)
c.1194T>G
n.1029+3261A>C
c.1805T>G (p.Ile602Arg)
c.1448T>G (p.Ile483Arg)
n.2506T>G
2g.166280508A>GCA349079761SCN1A-AS1,SCN9Ac.2192T>C (p.Ile731Thr)
c.2159T>C (p.Ile720Thr)
c.1194T>C
n.1029+3261A>G
c.1805T>C (p.Ile602Thr)
c.1448T>C (p.Ile483Thr)
n.2506T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280508A>TCA129149SCN1A-AS1,SCN9Ac.2192T>A (p.Ile731Lys)
c.2159T>A (p.Ile720Lys)
c.1194T>A
n.1029+3261A>T
c.1805T>A (p.Ile602Lys)
c.1448T>A (p.Ile483Lys)
n.2506T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280509T>ACA349079762SCN1A-AS1,SCN9Ac.2191A>T (p.Ile731Leu)
c.2158A>T (p.Ile720Leu)
c.1193A>T
n.1029+3262T>A
c.1804A>T (p.Ile602Leu)
c.1447A>T (p.Ile483Leu)
n.2505A>T
2g.166280509T>CCA349079763SCN1A-AS1,SCN9Ac.2191A>G (p.Ile731Val)
c.2158A>G (p.Ile720Val)
c.1193A>G
n.1029+3262T>C
c.1804A>G (p.Ile602Val)
c.1447A>G (p.Ile483Val)
n.2505A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166280509T>GCA349079764SCN1A-AS1,SCN9Ac.2191A>C (p.Ile731Leu)
c.2158A>C (p.Ile720Leu)
c.1193A>C
n.1029+3262T>G
c.1804A>C (p.Ile602Leu)
c.1447A>C (p.Ile483Leu)
n.2505A>C
2g.166280509T=CA1304965794SCN1A-AS1,SCN9Ac.2191A= (p.Ile731=)
c.2158A= (p.Ile720=)
c.1193A=
n.1029+3262T=
c.1804A= (p.Ile602=)
c.1447A= (p.Ile483=)
n.2505A=
2g.166280510C>ACA349079765SCN1A-AS1,SCN9Ac.2190G>T (p.Trp730Cys)
c.2157G>T (p.Trp719Cys)
c.1192G>T
n.1029+3263C>A
c.1803G>T (p.Trp601Cys)
c.1446G>T (p.Trp482Cys)
n.2504G>T
 gnomAD v4
2g.166280510C=CA1304965797SCN1A-AS1,SCN9Ac.2190G= (p.Trp730=)
c.2157G= (p.Trp719=)
c.1192G=
n.1029+3263C=
c.1803G= (p.Trp601=)
c.1446G= (p.Trp482=)
n.2504G=
2g.166280510C>GCA1944311SCN1A-AS1,SCN9Ac.2190G>C (p.Trp730Cys)
c.2157G>C (p.Trp719Cys)
c.1192G>C
n.1029+3263C>G
c.1803G>C (p.Trp601Cys)
c.1446G>C (p.Trp482Cys)
n.2504G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280510C>TCA349079766SCN1A-AS1,SCN9Ac.2190G>A (p.Trp730Ter)
c.2157G>A (p.Trp719Ter)
c.1192G>A
n.1029+3263C>T
c.1803G>A (p.Trp601Ter)
c.1446G>A (p.Trp482Ter)
n.2504G>A
 dbSNP COSMIC COSMIC
2g.166280511C>ACA59796663SCN1A-AS1,SCN9Ac.2189G>T (p.Trp730Leu)
c.2156G>T (p.Trp719Leu)
c.1191G>T
n.1029+3264C>A
c.1802G>T (p.Trp601Leu)
c.1445G>T (p.Trp482Leu)
n.2503G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166280511C=CA1304965801SCN1A-AS1,SCN9Ac.2189G= (p.Trp730=)
c.2156G= (p.Trp719=)
c.1191G=
n.1029+3264C=
c.1802G= (p.Trp601=)
c.1445G= (p.Trp482=)
n.2503G=
2g.166280511C>GCA349079767SCN1A-AS1,SCN9Ac.2189G>C (p.Trp730Ser)
c.2156G>C (p.Trp719Ser)
c.1191G>C
n.1029+3264C>G
c.1802G>C (p.Trp601Ser)
c.1445G>C (p.Trp482Ser)
n.2503G>C
2g.166280511C>TCA349079768SCN1A-AS1,SCN9Ac.2189G>A (p.Trp730Ter)
c.2156G>A (p.Trp719Ter)
c.1191G>A
n.1029+3264C>T
c.1802G>A (p.Trp601Ter)
c.1445G>A (p.Trp482Ter)
n.2503G>A
 gnomAD v4
2g.166280512A>CCA349079769SCN1A-AS1,SCN9Ac.2188T>G (p.Trp730Gly)
c.2155T>G (p.Trp719Gly)
c.1190T>G
n.1029+3265A>C
c.1801T>G (p.Trp601Gly)
c.1444T>G (p.Trp482Gly)
n.2502T>G
2g.166280512A>GCA349079770SCN1A-AS1,SCN9Ac.2188T>C (p.Trp730Arg)
c.2155T>C (p.Trp719Arg)
c.1190T>C
n.1029+3265A>G
c.1801T>C (p.Trp601Arg)
c.1444T>C (p.Trp482Arg)
n.2502T>C
 gnomAD v4
2g.166280512A>TCA349079771SCN1A-AS1,SCN9Ac.2188T>A (p.Trp730Arg)
c.2155T>A (p.Trp719Arg)
c.1190T>A
n.1029+3265A>T
c.1801T>A (p.Trp601Arg)
c.1444T>A (p.Trp482Arg)
n.2502T>A
2g.166280513A>CCA349079772SCN1A-AS1,SCN9Ac.2187T>G (p.Tyr729Ter)
c.2154T>G (p.Tyr718Ter)
c.1189T>G
n.1029+3266A>C
c.1800T>G (p.Tyr600Ter)
c.1443T>G (p.Tyr481Ter)
n.2501T>G
2g.166280513A>GCA429902510SCN1A-AS1,SCN9Ac.2187T>C (p.Tyr729=)
c.2154T>C (p.Tyr718=)
c.1189T>C
n.1029+3266A>G
c.1800T>C (p.Tyr600=)
c.1443T>C (p.Tyr481=)
n.2501T>C
2g.166280513A>TCA349079773SCN1A-AS1,SCN9Ac.2187T>A (p.Tyr729Ter)
c.2154T>A (p.Tyr718Ter)
c.1189T>A
n.1029+3266A>T
c.1800T>A (p.Tyr600Ter)
c.1443T>A (p.Tyr481Ter)
n.2501T>A
2g.166280514T>ACA349079774SCN1A-AS1,SCN9Ac.2186A>T (p.Tyr729Phe)
c.2153A>T (p.Tyr718Phe)
c.1188A>T
n.1029+3267T>A
c.1799A>T (p.Tyr600Phe)
c.1442A>T (p.Tyr481Phe)
n.2500A>T
2g.166280514T>CCA349079776SCN1A-AS1,SCN9Ac.2186A>G (p.Tyr729Cys)
c.2153A>G (p.Tyr718Cys)
c.1188A>G
n.1029+3267T>C
c.1799A>G (p.Tyr600Cys)
c.1442A>G (p.Tyr481Cys)
n.2500A>G
 dbSNP gnomAD v3 gnomAD v4
2g.166280514T>GCA349079775SCN1A-AS1,SCN9Ac.2186A>C (p.Tyr729Ser)
c.2153A>C (p.Tyr718Ser)
c.1188A>C
n.1029+3267T>G
c.1799A>C (p.Tyr600Ser)
c.1442A>C (p.Tyr481Ser)
n.2500A>C
2g.166280514T=CA1304965803SCN1A-AS1,SCN9Ac.2186A= (p.Tyr729=)
c.2153A= (p.Tyr718=)
c.1188A=
n.1029+3267T=
c.1799A= (p.Tyr600=)
c.1442A= (p.Tyr481=)
n.2500A=
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
2g.166280529C>ACA349079807SCN1A-AS1,SCN9Ac.2171G>T (p.Trp724Leu)
c.2138G>T (p.Trp713Leu)
c.1173G>T
n.1029+3282C>A
c.1784G>T (p.Trp595Leu)
c.1427G>T (p.Trp476Leu)
n.2485G>T
 dbSNP gnomAD v3 gnomAD v4
2g.166280529C=CA1304965821SCN1A-AS1,SCN9Ac.2171G= (p.Trp724=)
c.2138G= (p.Trp713=)
c.1173G=
n.1029+3282C=
c.1784G= (p.Trp595=)
c.1427G= (p.Trp476=)
n.2485G=
2g.166280529C>GCA349079808SCN1A-AS1,SCN9Ac.2171G>C (p.Trp724Ser)
c.2138G>C (p.Trp713Ser)
c.1173G>C
n.1029+3282C>G
c.1784G>C (p.Trp595Ser)
c.1427G>C (p.Trp476Ser)
n.2485G>C
2g.166280529C>TCA349079809SCN1A-AS1,SCN9Ac.2171G>A (p.Trp724Ter)
c.2138G>A (p.Trp713Ter)
c.1173G>A
n.1029+3282C>T
c.1784G>A (p.Trp595Ter)
c.1427G>A (p.Trp476Ter)
n.2485G>A
 gnomAD v4
2g.166280530A>CCA349079810SCN1A-AS1,SCN9Ac.2170T>G (p.Trp724Gly)
c.2137T>G (p.Trp713Gly)
c.1172T>G
n.1029+3283A>C
c.1783T>G (p.Trp595Gly)
c.1426T>G (p.Trp476Gly)
n.2484T>G
2g.166280530A>GCA349079812SCN1A-AS1,SCN9Ac.2170T>C (p.Trp724Arg)
c.2137T>C (p.Trp713Arg)
c.1172T>C
n.1029+3283A>G
c.1783T>C (p.Trp595Arg)
c.1426T>C (p.Trp476Arg)
n.2484T>C
 gnomAD v4
2g.166280530A>TCA349079811SCN1A-AS1,SCN9Ac.2170T>A (p.Trp724Arg)
c.2137T>A (p.Trp713Arg)
c.1172T>A
n.1029+3283A>T
c.1783T>A (p.Trp595Arg)
c.1426T>A (p.Trp476Arg)
n.2484T>A
2g.166280531G>ACA59796683SCN1A-AS1,SCN9Ac.2169C>T (p.Ile723=)
c.2136C>T (p.Ile712=)
c.1171C>T
n.1029+3284G>A
c.1782C>T (p.Ile594=)
c.1425C>T (p.Ile475=)
n.2483C>T
 dbSNP gnomAD v4
2g.166280531G>CCA349079813SCN1A-AS1,SCN9Ac.2169C>G (p.Ile723Met)
c.2136C>G (p.Ile712Met)
c.1171C>G
n.1029+3284G>C
c.1782C>G (p.Ile594Met)
c.1425C>G (p.Ile475Met)
n.2483C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280531G=CA1304965825SCN1A-AS1,SCN9Ac.2169C= (p.Ile723=)
c.2136C= (p.Ile712=)
c.1171C=
n.1029+3284G=
c.1782C= (p.Ile594=)
c.1425C= (p.Ile475=)
n.2483C=
2g.166280531G>TCA429902539SCN1A-AS1,SCN9Ac.2169C>A (p.Ile723=)
c.2136C>A (p.Ile712=)
c.1171C>A
n.1029+3284G>T
c.1782C>A (p.Ile594=)
c.1425C>A (p.Ile475=)
n.2483C>A
 gnomAD v4
2g.166280532A=CA1304965830SCN1A-AS1,SCN9Ac.2168T= (p.Ile723=)
c.2135T= (p.Ile712=)
c.1170T=
n.1029+3285A=
c.1781T= (p.Ile594=)
c.1424T= (p.Ile475=)
n.2482T=
2g.166280532A>CCA349079814SCN1A-AS1,SCN9Ac.2168T>G (p.Ile723Ser)
c.2135T>G (p.Ile712Ser)
c.1170T>G
n.1029+3285A>C
c.1781T>G (p.Ile594Ser)
c.1424T>G (p.Ile475Ser)
n.2482T>G
2g.166280532A>GCA349079815SCN1A-AS1,SCN9Ac.2168T>C (p.Ile723Thr)
c.2135T>C (p.Ile712Thr)
c.1170T>C
n.1029+3285A>G
c.1781T>C (p.Ile594Thr)
c.1424T>C (p.Ile475Thr)
n.2482T>C
 gnomAD v4
2g.166280532A>TCA349079816SCN1A-AS1,SCN9Ac.2168T>A (p.Ile723Asn)
c.2135T>A (p.Ile712Asn)
c.1170T>A
n.1029+3285A>T
c.1781T>A (p.Ile594Asn)
c.1424T>A (p.Ile475Asn)
n.2482T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166280533T>ACA349079817SCN1A-AS1,SCN9Ac.2167A>T (p.Ile723Phe)
c.2134A>T (p.Ile712Phe)
c.1169A>T
n.1029+3286T>A
c.1780A>T (p.Ile594Phe)
c.1423A>T (p.Ile475Phe)
n.2481A>T
2g.166280533T>CCA349079819SCN1A-AS1,SCN9Ac.2167A>G (p.Ile723Val)
c.2134A>G (p.Ile712Val)
c.1169A>G
n.1029+3286T>C
c.1780A>G (p.Ile594Val)
c.1423A>G (p.Ile475Val)
n.2481A>G
2g.166280533T>GCA349079818SCN1A-AS1,SCN9Ac.2167A>C (p.Ile723Leu)
c.2134A>C (p.Ile712Leu)
c.1169A>C
n.1029+3286T>G
c.1780A>C (p.Ile594Leu)
c.1423A>C (p.Ile475Leu)
n.2481A>C
2g.166280534C>ACA349079820SCN1A-AS1,SCN9Ac.2166G>T (p.Leu722Phe)
c.2133G>T (p.Leu711Phe)
c.1168G>T
n.1029+3287C>A
c.1779G>T (p.Leu593Phe)
c.1422G>T (p.Leu474Phe)
n.2480G>T
2g.166280534C=CA1304965834SCN1A-AS1,SCN9Ac.2166G= (p.Leu722=)
c.2133G= (p.Leu711=)
c.1168G=
n.1029+3287C=
c.1779G= (p.Leu593=)
c.1422G= (p.Leu474=)
n.2480G=
2g.166280534C>GCA1944316SCN1A-AS1,SCN9Ac.2166G>C (p.Leu722Phe)
c.2133G>C (p.Leu711Phe)
c.1168G>C
n.1029+3287C>G
c.1779G>C (p.Leu593Phe)
c.1422G>C (p.Leu474Phe)
n.2480G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280534C>TCA429902544SCN1A-AS1,SCN9Ac.2166G>A (p.Leu722=)
c.2133G>A (p.Leu711=)
c.1168G>A
n.1029+3287C>T
c.1779G>A (p.Leu593=)
c.1422G>A (p.Leu474=)
n.2480G>A
 gnomAD v4
2g.166280535A=CA1304965838SCN1A-AS1,SCN9Ac.2165T= (p.Leu722=)
c.2132T= (p.Leu711=)
c.1167T=
n.1029+3288A=
c.1778T= (p.Leu593=)
c.1421T= (p.Leu474=)
n.2479T=
2g.166280535A>CCA349079821SCN1A-AS1,SCN9Ac.2165T>G (p.Leu722Trp)
c.2132T>G (p.Leu711Trp)
c.1167T>G
n.1029+3288A>C
c.1778T>G (p.Leu593Trp)
c.1421T>G (p.Leu474Trp)
n.2479T>G
2g.166280535A>GCA1944317SCN1A-AS1,SCN9Ac.2165T>C (p.Leu722Ser)
c.2132T>C (p.Leu711Ser)
c.1167T>C
n.1029+3288A>G
c.1778T>C (p.Leu593Ser)
c.1421T>C (p.Leu474Ser)
n.2479T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280535A>TCA349079822SCN1A-AS1,SCN9Ac.2165T>A (p.Leu722Ter)
c.2132T>A (p.Leu711Ter)
c.1167T>A
n.1029+3288A>T
c.1778T>A (p.Leu593Ter)
c.1421T>A (p.Leu474Ter)
n.2479T>A
 dbSNP
2g.166280536A=CA1304965840SCN1A-AS1,SCN9Ac.2164T= (p.Leu722=)
c.2131T= (p.Leu711=)
c.1166T=
n.1029+3289A=
c.1777T= (p.Leu593=)
c.1420T= (p.Leu474=)
n.2478T=
2g.166280536A>CCA349079823SCN1A-AS1,SCN9Ac.2164T>G (p.Leu722Val)
c.2131T>G (p.Leu711Val)
c.1166T>G
n.1029+3289A>C
c.1777T>G (p.Leu593Val)
c.1420T>G (p.Leu474Val)
n.2478T>G
 dbSNP COSMIC COSMIC
2g.166280536A>GCA429902546SCN1A-AS1,SCN9Ac.2164T>C (p.Leu722=)
c.2131T>C (p.Leu711=)
c.1166T>C
n.1029+3289A>G
c.1777T>C (p.Leu593=)
c.1420T>C (p.Leu474=)
n.2478T>C
2g.166280536A>TCA349079824SCN1A-AS1,SCN9Ac.2164T>A (p.Leu722Met)
c.2131T>A (p.Leu711Met)
c.1166T>A
n.1029+3289A>T
c.1777T>A (p.Leu593Met)
c.1420T>A (p.Leu474Met)
n.2478T>A
2g.166280537G>ACA429902547SCN1A-AS1,SCN9Ac.2163C>T (p.Phe721=)
c.2130C>T (p.Phe710=)
c.1165C>T
n.1029+3290G>A
c.1776C>T (p.Phe592=)
c.1419C>T (p.Phe473=)
n.2477C>T
 dbSNP gnomAD v4
2g.166280537G>CCA349079825SCN1A-AS1,SCN9Ac.2163C>G (p.Phe721Leu)
c.2130C>G (p.Phe710Leu)
c.1165C>G
n.1029+3290G>C
c.1776C>G (p.Phe592Leu)
c.1419C>G (p.Phe473Leu)
n.2477C>G
2g.166280537G=CA1304965844SCN1A-AS1,SCN9Ac.2163C= (p.Phe721=)
c.2130C= (p.Phe710=)
c.1165C=
n.1029+3290G=
c.1776C= (p.Phe592=)
c.1419C= (p.Phe473=)
n.2477C=
2g.166280537G>TCA349079826SCN1A-AS1,SCN9Ac.2163C>A (p.Phe721Leu)
c.2130C>A (p.Phe710Leu)
c.1165C>A
n.1029+3290G>T
c.1776C>A (p.Phe592Leu)
c.1419C>A (p.Phe473Leu)
n.2477C>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.166280538A>CCA349079827SCN1A-AS1,SCN9Ac.2162T>G (p.Phe721Cys)
c.2129T>G (p.Phe710Cys)
c.1164T>G
n.1029+3291A>C
c.1775T>G (p.Phe592Cys)
c.1418T>G (p.Phe473Cys)
n.2476T>G
2g.166280538A>GCA349079828SCN1A-AS1,SCN9Ac.2162T>C (p.Phe721Ser)
c.2129T>C (p.Phe710Ser)
c.1164T>C
n.1029+3291A>G
c.1775T>C (p.Phe592Ser)
c.1418T>C (p.Phe473Ser)
n.2476T>C
2g.166280538A>TCA349079829SCN1A-AS1,SCN9Ac.2162T>A (p.Phe721Tyr)
c.2129T>A (p.Phe710Tyr)
c.1164T>A
n.1029+3291A>T
c.1775T>A (p.Phe592Tyr)
c.1418T>A (p.Phe473Tyr)
n.2476T>A
 gnomAD v4
2g.166280539A=CA1304965847SCN1A-AS1,SCN9Ac.2161T= (p.Phe721=)
c.2128T= (p.Phe710=)
c.1163T=
n.1029+3292A=
c.1774T= (p.Phe592=)
c.1417T= (p.Phe473=)
n.2475T=
2g.166280539A>CCA1944318SCN1A-AS1,SCN9Ac.2161T>G (p.Phe721Val)
c.2128T>G (p.Phe710Val)
c.1163T>G
n.1029+3292A>C
c.1774T>G (p.Phe592Val)
c.1417T>G (p.Phe473Val)
n.2475T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280539A>GCA349079831SCN1A-AS1,SCN9Ac.2161T>C (p.Phe721Leu)
c.2128T>C (p.Phe710Leu)
c.1163T>C
n.1029+3292A>G
c.1774T>C (p.Phe592Leu)
c.1417T>C (p.Phe473Leu)
n.2475T>C
 COSMIC COSMIC
2g.166280539A>TCA349079830SCN1A-AS1,SCN9Ac.2161T>A (p.Phe721Ile)
c.2128T>A (p.Phe710Ile)
c.1163T>A
n.1029+3292A>T
c.1774T>A (p.Phe592Ile)
c.1417T>A (p.Phe473Ile)
n.2475T>A
2g.166280540T>ACA349079833SCN1A-AS1,SCN9Ac.2160A>T (p.Lys720Asn)
c.2127A>T (p.Lys709Asn)
c.1162A>T
n.1029+3293T>A
c.1773A>T (p.Lys591Asn)
c.1416A>T (p.Lys472Asn)
n.2474A>T
2g.166280540T>CCA429902554SCN1A-AS1,SCN9Ac.2160A>G (p.Lys720=)
c.2127A>G (p.Lys709=)
c.1162A>G
n.1029+3293T>C
c.1773A>G (p.Lys591=)
c.1416A>G (p.Lys472=)
n.2474A>G
2g.166280540T>GCA349079832SCN1A-AS1,SCN9Ac.2160A>C (p.Lys720Asn)
c.2127A>C (p.Lys709Asn)
c.1162A>C
n.1029+3293T>G
c.1773A>C (p.Lys591Asn)
c.1416A>C (p.Lys472Asn)
n.2474A>C
2g.166280541T>ACA349079834SCN1A-AS1,SCN9Ac.2159A>T (p.Lys720Ile)
c.2126A>T (p.Lys709Ile)
c.1161A>T
n.1029+3294T>A
c.1772A>T (p.Lys591Ile)
c.1415A>T (p.Lys472Ile)
n.2473A>T
2g.166280541T>CCA349079835SCN1A-AS1,SCN9Ac.2159A>G (p.Lys720Arg)
c.2126A>G (p.Lys709Arg)
c.1161A>G
n.1029+3294T>C
c.1772A>G (p.Lys591Arg)
c.1415A>G (p.Lys472Arg)
n.2473A>G
 gnomAD v4
2g.166280541T>GCA349079836SCN1A-AS1,SCN9Ac.2159A>C (p.Lys720Thr)
c.2126A>C (p.Lys709Thr)
c.1161A>C
n.1029+3294T>G
c.1772A>C (p.Lys591Thr)
c.1415A>C (p.Lys472Thr)
n.2473A>C
 COSMIC COSMIC
2g.166280542T>ACA349079837SCN1A-AS1,SCN9Ac.2158A>T (p.Lys720Ter)
c.2125A>T (p.Lys709Ter)
c.1160A>T
n.1029+3295T>A
c.1771A>T (p.Lys591Ter)
c.1414A>T (p.Lys472Ter)
n.2472A>T
 dbSNP
2g.166280542T>CCA349079838SCN1A-AS1,SCN9Ac.2158A>G (p.Lys720Glu)
c.2125A>G (p.Lys709Glu)
c.1160A>G
n.1029+3295T>C
c.1771A>G (p.Lys591Glu)
c.1414A>G (p.Lys472Glu)
n.2472A>G
 gnomAD v4 COSMIC COSMIC
2g.166280542T>GCA349079839SCN1A-AS1,SCN9Ac.2158A>C (p.Lys720Gln)
c.2125A>C (p.Lys709Gln)
c.1160A>C
n.1029+3295T>G
c.1771A>C (p.Lys591Gln)
c.1414A>C (p.Lys472Gln)
n.2472A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280542T=CA1304965850SCN1A-AS1,SCN9Ac.2158A= (p.Lys720=)
c.2125A= (p.Lys709=)
c.1160A=
n.1029+3295T=
c.1771A= (p.Lys591=)
c.1414A= (p.Lys472=)
n.2472A=
2g.166280543G>ACA429902556SCN1A-AS1,SCN9Ac.2157C>T (p.His719=)
c.2124C>T (p.His708=)
c.1159C>T
n.1029+3296G>A
c.1770C>T (p.His590=)
c.1413C>T (p.His471=)
n.2471C>T
 gnomAD v4
2g.166280543G>CCA349079840SCN1A-AS1,SCN9Ac.2157C>G (p.His719Gln)
c.2124C>G (p.His708Gln)
c.1159C>G
n.1029+3296G>C
c.1770C>G (p.His590Gln)
c.1413C>G (p.His471Gln)
n.2471C>G
 dbSNP
2g.166280543G=CA1304965853SCN1A-AS1,SCN9Ac.2157C= (p.His719=)
c.2124C= (p.His708=)
c.1159C=
n.1029+3296G=
c.1770C= (p.His590=)
c.1413C= (p.His471=)
n.2471C=
2g.166280543G>TCA349079841SCN1A-AS1,SCN9Ac.2157C>A (p.His719Gln)
c.2124C>A (p.His708Gln)
c.1159C>A
n.1029+3296G>T
c.1770C>A (p.His590Gln)
c.1413C>A (p.His471Gln)
n.2471C>A
2g.166280544T>ACA349079842SCN1A-AS1,SCN9Ac.2156A>T (p.His719Leu)
c.2123A>T (p.His708Leu)
c.1158A>T
n.1029+3297T>A
c.1769A>T (p.His590Leu)
c.1412A>T (p.His471Leu)
n.2470A>T
 gnomAD v4
2g.166280544T>CCA349079843SCN1A-AS1,SCN9Ac.2156A>G (p.His719Arg)
c.2123A>G (p.His708Arg)
c.1158A>G
n.1029+3297T>C
c.1769A>G (p.His590Arg)
c.1412A>G (p.His471Arg)
n.2470A>G
 gnomAD v4
2g.166280544T>GCA349079844SCN1A-AS1,SCN9Ac.2156A>C (p.His719Pro)
c.2123A>C (p.His708Pro)
c.1158A>C
n.1029+3297T>G
c.1769A>C (p.His590Pro)
c.1412A>C (p.His471Pro)
n.2470A>C
2g.166280545G>ACA349079847SCN1A-AS1,SCN9Ac.2155C>T (p.His719Tyr)
c.2122C>T (p.His708Tyr)
c.1157C>T
n.1029+3298G>A
c.1768C>T (p.His590Tyr)
c.1411C>T (p.His471Tyr)
n.2469C>T
 ClinVar dbSNP gnomAD v4
2g.166280545G>CCA349079845SCN1A-AS1,SCN9Ac.2155C>G (p.His719Asp)
c.2122C>G (p.His708Asp)
c.1157C>G
n.1029+3298G>C
c.1768C>G (p.His590Asp)
c.1411C>G (p.His471Asp)
n.2469C>G
2g.166280545G=CA1304965857SCN1A-AS1,SCN9Ac.2155C= (p.His719=)
c.2122C= (p.His708=)
c.1157C=
n.1029+3298G=
c.1768C= (p.His590=)
c.1411C= (p.His471=)
n.2469C=
2g.166280545G>TCA349079846SCN1A-AS1,SCN9Ac.2155C>A (p.His719Asn)
c.2122C>A (p.His708Asn)
c.1157C>A
n.1029+3298G>T
c.1768C>A (p.His590Asn)
c.1411C>A (p.His471Asn)
n.2469C>A
 gnomAD v4
2g.166280546T>ACA429902566SCN1A-AS1,SCN9Ac.2154A>T (p.Ala718=)
c.2121A>T (p.Ala707=)
c.1156A>T
n.1029+3299T>A
c.1767A>T (p.Ala589=)
c.1410A>T (p.Ala470=)
n.2468A>T
2g.166280546T>CCA1944319SCN1A-AS1,SCN9Ac.2154A>G (p.Ala718=)
c.2121A>G (p.Ala707=)
c.1156A>G
n.1029+3299T>C
c.1767A>G (p.Ala589=)
c.1410A>G (p.Ala470=)
n.2468A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280546T>GCA429902569SCN1A-AS1,SCN9Ac.2154A>C (p.Ala718=)
c.2121A>C (p.Ala707=)
c.1156A>C
n.1029+3299T>G
c.1767A>C (p.Ala589=)
c.1410A>C (p.Ala470=)
n.2468A>C
2g.166280546T=CA1304965861SCN1A-AS1,SCN9Ac.2154A= (p.Ala718=)
c.2121A= (p.Ala707=)
c.1156A=
n.1029+3299T=
c.1767A= (p.Ala589=)
c.1410A= (p.Ala470=)
n.2468A=
2g.166280547G>ACA349079848SCN1A-AS1,SCN9Ac.2153C>T (p.Ala718Val)
c.2120C>T (p.Ala707Val)
c.1155C>T
n.1029+3300G>A
c.1766C>T (p.Ala589Val)
c.1409C>T (p.Ala470Val)
n.2467C>T
 gnomAD v4
2g.166280547G>CCA349079849SCN1A-AS1,SCN9Ac.2153C>G (p.Ala718Gly)
c.2120C>G (p.Ala707Gly)
c.1155C>G
n.1029+3300G>C
c.1766C>G (p.Ala589Gly)
c.1409C>G (p.Ala470Gly)
n.2467C>G
2g.166280547G>TCA349079850SCN1A-AS1,SCN9Ac.2153C>A (p.Ala718Glu)
c.2120C>A (p.Ala707Glu)
c.1155C>A
n.1029+3300G>T
c.1766C>A (p.Ala589Glu)
c.1409C>A (p.Ala470Glu)
n.2467C>A
 ClinVar dbSNP gnomAD v4
2g.166280548C>ACA349079851SCN1A-AS1,SCN9Ac.2152G>T (p.Ala718Ser)
c.2119G>T (p.Ala707Ser)
c.1154G>T
n.1029+3301C>A
c.1765G>T (p.Ala589Ser)
c.1408G>T (p.Ala470Ser)
n.2466G>T
 ClinVar gnomAD v4
2g.166280548C=CA1304965864SCN1A-AS1,SCN9Ac.2152G= (p.Ala718=)
c.2119G= (p.Ala707=)
c.1154G=
n.1029+3301C=
c.1765G= (p.Ala589=)
c.1408G= (p.Ala470=)
n.2466G=
2g.166280548C>GCA349079852SCN1A-AS1,SCN9Ac.2152G>C (p.Ala718Pro)
c.2119G>C (p.Ala707Pro)
c.1154G>C
n.1029+3301C>G
c.1765G>C (p.Ala589Pro)
c.1408G>C (p.Ala470Pro)
n.2466G>C
2g.166280548C>TCA349079853SCN1A-AS1,SCN9Ac.2152G>A (p.Ala718Thr)
c.2119G>A (p.Ala707Thr)
c.1154G>A
n.1029+3301C>T
c.1765G>A (p.Ala589Thr)
c.1408G>A (p.Ala470Thr)
n.2466G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280549A>CCA349079854SCN1A-AS1,SCN9Ac.2151T>G (p.Phe717Leu)
c.2118T>G (p.Phe706Leu)
c.1153T>G
n.1029+3302A>C
c.1764T>G (p.Phe588Leu)
c.1407T>G (p.Phe469Leu)
n.2465T>G
2g.166280549A>GCA429902574SCN1A-AS1,SCN9Ac.2151T>C (p.Phe717=)
c.2118T>C (p.Phe706=)
c.1153T>C
n.1029+3302A>G
c.1764T>C (p.Phe588=)
c.1407T>C (p.Phe469=)
n.2465T>C
 gnomAD v4
2g.166280549A>TCA349079855SCN1A-AS1,SCN9Ac.2151T>A (p.Phe717Leu)
c.2118T>A (p.Phe706Leu)
c.1153T>A
n.1029+3302A>T
c.1764T>A (p.Phe588Leu)
c.1407T>A (p.Phe469Leu)
n.2465T>A
2g.166280550A=CA1304965872SCN1A-AS1,SCN9Ac.2150T= (p.Phe717=)
c.2117T= (p.Phe706=)
c.1152T=
n.1029+3303A=
c.1763T= (p.Phe588=)
c.1406T= (p.Phe469=)
n.2464T=
2g.166280550A>CCA349079856SCN1A-AS1,SCN9Ac.2150T>G (p.Phe717Cys)
c.2117T>G (p.Phe706Cys)
c.1152T>G
n.1029+3303A>C
c.1763T>G (p.Phe588Cys)
c.1406T>G (p.Phe469Cys)
n.2464T>G
2g.166280550A>GCA1944320SCN1A-AS1,SCN9Ac.2150T>C (p.Phe717Ser)
c.2117T>C (p.Phe706Ser)
c.1152T>C
n.1029+3303A>G
c.1763T>C (p.Phe588Ser)
c.1406T>C (p.Phe469Ser)
n.2464T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280550A>TCA349079857SCN1A-AS1,SCN9Ac.2150T>A (p.Phe717Tyr)
c.2117T>A (p.Phe706Tyr)
c.1152T>A
n.1029+3303A>T
c.1763T>A (p.Phe588Tyr)
c.1406T>A (p.Phe469Tyr)
n.2464T>A
2g.166280551A>CCA349079859SCN1A-AS1,SCN9Ac.2149T>G (p.Phe717Val)
c.2116T>G (p.Phe706Val)
c.1151T>G
n.1029+3304A>C
c.1762T>G (p.Phe588Val)
c.1405T>G (p.Phe469Val)
n.2463T>G
2g.166280551A>GCA349079860SCN1A-AS1,SCN9Ac.2149T>C (p.Phe717Leu)
c.2116T>C (p.Phe706Leu)
c.1151T>C
n.1029+3304A>G
c.1762T>C (p.Phe588Leu)
c.1405T>C (p.Phe469Leu)
n.2463T>C
2g.166280551A>TCA349079858SCN1A-AS1,SCN9Ac.2149T>A (p.Phe717Ile)
c.2116T>A (p.Phe706Ile)
c.1151T>A
n.1029+3304A>T
c.1762T>A (p.Phe588Ile)
c.1405T>A (p.Phe469Ile)
n.2463T>A
2g.166280552T>ACA349079861SCN1A-AS1,SCN9Ac.2148A>T (p.Arg716Ser)
c.2115A>T (p.Arg705Ser)
c.1150A>T
n.1029+3305T>A
c.1761A>T (p.Arg587Ser)
c.1404A>T (p.Arg468Ser)
n.2462A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280552T>CCA429902583SCN1A-AS1,SCN9Ac.2148A>G (p.Arg716=)
c.2115A>G (p.Arg705=)
c.1150A>G
n.1029+3305T>C
c.1761A>G (p.Arg587=)
c.1404A>G (p.Arg468=)
n.2462A>G
2g.166280552T>GCA349079862SCN1A-AS1,SCN9Ac.2148A>C (p.Arg716Ser)
c.2115A>C (p.Arg705Ser)
c.1150A>C
n.1029+3305T>G
c.1761A>C (p.Arg587Ser)
c.1404A>C (p.Arg468Ser)
n.2462A>C
2g.166280552T=CA1304965874SCN1A-AS1,SCN9Ac.2148A= (p.Arg716=)
c.2115A= (p.Arg705=)
c.1150A=
n.1029+3305T=
c.1761A= (p.Arg587=)
c.1404A= (p.Arg468=)
n.2462A=
2g.166280553C>ACA349079864SCN1A-AS1,SCN9Ac.2147G>T (p.Arg716Ile)
c.2114G>T (p.Arg705Ile)
c.1149G>T
n.1029+3306C>A
c.1760G>T (p.Arg587Ile)
c.1403G>T (p.Arg468Ile)
n.2461G>T
 gnomAD v4
2g.166280553C=CA1304965878SCN1A-AS1,SCN9Ac.2147G= (p.Arg716=)
c.2114G= (p.Arg705=)
c.1149G=
n.1029+3306C=
c.1760G= (p.Arg587=)
c.1403G= (p.Arg468=)
n.2461G=
2g.166280553C>GCA349079865SCN1A-AS1,SCN9Ac.2147G>C (p.Arg716Thr)
c.2114G>C (p.Arg705Thr)
c.1149G>C
n.1029+3306C>G
c.1760G>C (p.Arg587Thr)
c.1403G>C (p.Arg468Thr)
n.2461G>C
 gnomAD v4
2g.166280553C>TCA349079867SCN1A-AS1,SCN9Ac.2147G>A (p.Arg716Lys)
c.2114G>A (p.Arg705Lys)
c.1149G>A
n.1029+3306C>T
c.1760G>A (p.Arg587Lys)
c.1403G>A (p.Arg468Lys)
n.2461G>A
 ClinVar dbSNP COSMIC COSMIC
2g.166280554T>ACA349079868SCN1A-AS1,SCN9Ac.2146A>T (p.Arg716Ter)
c.2113A>T (p.Arg705Ter)
c.1148A>T
n.1029+3307T>A
c.1759A>T (p.Arg587Ter)
c.1402A>T (p.Arg468Ter)
n.2460A>T
 dbSNP gnomAD v4
2g.166280554T>CCA349079870SCN1A-AS1,SCN9Ac.2146A>G (p.Arg716Gly)
c.2113A>G (p.Arg705Gly)
c.1148A>G
n.1029+3307T>C
c.1759A>G (p.Arg587Gly)
c.1402A>G (p.Arg468Gly)
n.2460A>G
 gnomAD v4
2g.166280554T>GCA429902600SCN1A-AS1,SCN9Ac.2146A>C (p.Arg716=)
c.2113A>C (p.Arg705=)
c.1148A>C
n.1029+3307T>G
c.1759A>C (p.Arg587=)
c.1402A>C (p.Arg468=)
n.2460A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280554T=CA1304965883SCN1A-AS1,SCN9Ac.2146A= (p.Arg716=)
c.2113A= (p.Arg705=)
c.1148A=
n.1029+3307T=
c.1759A= (p.Arg587=)
c.1402A= (p.Arg468=)
n.2460A=

Number of alleles fetched