Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166228793G>ACA429899179SCN1A-AS1,SCN9Ac.4104C>T (p.Ser1368=)
c.3948C>T (p.Ser1316=)
c.4071C>T (p.Ser1357=)
n.612-19402G>A
c.3717C>T (p.Ser1239=)
c.3360C>T (p.Ser1120=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166228793G>CCA429899180SCN1A-AS1,SCN9Ac.4104C>G (p.Ser1368=)
c.3948C>G (p.Ser1316=)
c.4071C>G (p.Ser1357=)
n.612-19402G>C
c.3717C>G (p.Ser1239=)
c.3360C>G (p.Ser1120=)
 dbSNP
2g.166228793G=CA1304943642SCN1A-AS1,SCN9Ac.4104C= (p.Ser1368=)
c.3948C= (p.Ser1316=)
c.4071C= (p.Ser1357=)
n.612-19402G=
c.3717C= (p.Ser1239=)
c.3360C= (p.Ser1120=)
2g.166228793G>TCA429899181SCN1A-AS1,SCN9Ac.4104C>A (p.Ser1368=)
c.3948C>A (p.Ser1316=)
c.4071C>A (p.Ser1357=)
n.612-19402G>T
c.3717C>A (p.Ser1239=)
c.3360C>A (p.Ser1120=)
2g.166228794G>ACA349063587SCN1A-AS1,SCN9Ac.4103C>T (p.Ser1368Phe)
c.3947C>T (p.Ser1316Phe)
c.4070C>T (p.Ser1357Phe)
n.612-19401G>A
c.3716C>T (p.Ser1239Phe)
c.3359C>T (p.Ser1120Phe)
 COSMIC COSMIC
2g.166228794G>CCA349063588SCN1A-AS1,SCN9Ac.4103C>G (p.Ser1368Cys)
c.3947C>G (p.Ser1316Cys)
c.4070C>G (p.Ser1357Cys)
n.612-19401G>C
c.3716C>G (p.Ser1239Cys)
c.3359C>G (p.Ser1120Cys)
2g.166228794G>TCA349063590SCN1A-AS1,SCN9Ac.4103C>A (p.Ser1368Tyr)
c.3947C>A (p.Ser1316Tyr)
c.4070C>A (p.Ser1357Tyr)
n.612-19401G>T
c.3716C>A (p.Ser1239Tyr)
c.3359C>A (p.Ser1120Tyr)
 gnomAD v4
2g.166228795A=CA1304943643SCN1A-AS1,SCN9Ac.4102T= (p.Ser1368=)
c.3946T= (p.Ser1316=)
c.4069T= (p.Ser1357=)
n.612-19400A=
c.3715T= (p.Ser1239=)
c.3358T= (p.Ser1120=)
2g.166228795A>CCA349063598SCN1A-AS1,SCN9Ac.4102T>G (p.Ser1368Ala)
c.3946T>G (p.Ser1316Ala)
c.4069T>G (p.Ser1357Ala)
n.612-19400A>C
c.3715T>G (p.Ser1239Ala)
c.3358T>G (p.Ser1120Ala)
2g.166228795A>GCA349063593SCN1A-AS1,SCN9Ac.4102T>C (p.Ser1368Pro)
c.3946T>C (p.Ser1316Pro)
c.4069T>C (p.Ser1357Pro)
n.612-19400A>G
c.3715T>C (p.Ser1239Pro)
c.3358T>C (p.Ser1120Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228795A>TCA349063596SCN1A-AS1,SCN9Ac.4102T>A (p.Ser1368Thr)
c.3946T>A (p.Ser1316Thr)
c.4069T>A (p.Ser1357Thr)
n.612-19400A>T
c.3715T>A (p.Ser1239Thr)
c.3358T>A (p.Ser1120Thr)
2g.166228796A=CA1304943644SCN1A-AS1,SCN9Ac.4101T= (p.Arg1367=)
c.3945T= (p.Arg1315=)
c.4068T= (p.Arg1356=)
n.612-19399A=
c.3714T= (p.Arg1238=)
c.3357T= (p.Arg1119=)
2g.166228796A>CCA429899186SCN1A-AS1,SCN9Ac.4101T>G (p.Arg1367=)
c.3945T>G (p.Arg1315=)
c.4068T>G (p.Arg1356=)
n.612-19399A>C
c.3714T>G (p.Arg1238=)
c.3357T>G (p.Arg1119=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228796A>GCA429899187SCN1A-AS1,SCN9Ac.4101T>C (p.Arg1367=)
c.3945T>C (p.Arg1315=)
c.4068T>C (p.Arg1356=)
n.612-19399A>G
c.3714T>C (p.Arg1238=)
c.3357T>C (p.Arg1119=)
2g.166228796A>TCA429899188SCN1A-AS1,SCN9Ac.4101T>A (p.Arg1367=)
c.3945T>A (p.Arg1315=)
c.4068T>A (p.Arg1356=)
n.612-19399A>T
c.3714T>A (p.Arg1238=)
c.3357T>A (p.Arg1119=)
2g.166228797C>ACA349063601SCN1A-AS1,SCN9Ac.4100G>T (p.Arg1367Leu)
c.3944G>T (p.Arg1315Leu)
c.4067G>T (p.Arg1356Leu)
n.612-19398C>A
c.3713G>T (p.Arg1238Leu)
c.3356G>T (p.Arg1119Leu)
 gnomAD v4
2g.166228797C=CA1304943645SCN1A-AS1,SCN9Ac.4100G= (p.Arg1367=)
c.3944G= (p.Arg1315=)
c.4067G= (p.Arg1356=)
n.612-19398C=
c.3713G= (p.Arg1238=)
c.3356G= (p.Arg1119=)
2g.166228797C>GCA349063604SCN1A-AS1,SCN9Ac.4100G>C (p.Arg1367Pro)
c.3944G>C (p.Arg1315Pro)
c.4067G>C (p.Arg1356Pro)
n.612-19398C>G
c.3713G>C (p.Arg1238Pro)
c.3356G>C (p.Arg1119Pro)
2g.166228797C>TCA1943951SCN1A-AS1,SCN9Ac.4100G>A (p.Arg1367His)
c.3944G>A (p.Arg1315His)
c.4067G>A (p.Arg1356His)
n.612-19398C>T
c.3713G>A (p.Arg1238His)
c.3356G>A (p.Arg1119His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228798G>ACA59810279SCN1A-AS1,SCN9Ac.4099C>T (p.Arg1367Cys)
c.3943C>T (p.Arg1315Cys)
c.4066C>T (p.Arg1356Cys)
n.612-19397G>A
c.3712C>T (p.Arg1238Cys)
c.3355C>T (p.Arg1119Cys)
 ClinVar dbSNP COSMIC COSMIC
2g.166228798G>CCA349063607SCN1A-AS1,SCN9Ac.4099C>G (p.Arg1367Gly)
c.3943C>G (p.Arg1315Gly)
c.4066C>G (p.Arg1356Gly)
n.612-19397G>C
c.3712C>G (p.Arg1238Gly)
c.3355C>G (p.Arg1119Gly)
2g.166228798G=CA1304943646SCN1A-AS1,SCN9Ac.4099C= (p.Arg1367=)
c.3943C= (p.Arg1315=)
c.4066C= (p.Arg1356=)
n.612-19397G=
c.3712C= (p.Arg1238=)
c.3355C= (p.Arg1119=)
2g.166228798G>TCA349063609SCN1A-AS1,SCN9Ac.4099C>A (p.Arg1367Ser)
c.3943C>A (p.Arg1315Ser)
c.4066C>A (p.Arg1356Ser)
n.612-19397G>T
c.3712C>A (p.Arg1238Ser)
c.3355C>A (p.Arg1119Ser)
2g.166228799A>CCA349063611SCN1A-AS1,SCN9Ac.4098T>G (p.Asn1366Lys)
c.3942T>G (p.Asn1314Lys)
c.4065T>G (p.Asn1355Lys)
n.612-19396A>C
c.3711T>G (p.Asn1237Lys)
c.3354T>G (p.Asn1118Lys)
2g.166228799A>GCA429899191SCN1A-AS1,SCN9Ac.4098T>C (p.Asn1366=)
c.3942T>C (p.Asn1314=)
c.4065T>C (p.Asn1355=)
n.612-19396A>G
c.3711T>C (p.Asn1237=)
c.3354T>C (p.Asn1118=)
2g.166228799A>TCA349063613SCN1A-AS1,SCN9Ac.4098T>A (p.Asn1366Lys)
c.3942T>A (p.Asn1314Lys)
c.4065T>A (p.Asn1355Lys)
n.612-19396A>T
c.3711T>A (p.Asn1237Lys)
c.3354T>A (p.Asn1118Lys)
2g.166228800T>ACA349063616SCN1A-AS1,SCN9Ac.4097A>T (p.Asn1366Ile)
c.3941A>T (p.Asn1314Ile)
c.4064A>T (p.Asn1355Ile)
n.612-19395T>A
c.3710A>T (p.Asn1237Ile)
c.3353A>T (p.Asn1118Ile)
2g.166228800T>CCA349063617SCN1A-AS1,SCN9Ac.4097A>G (p.Asn1366Ser)
c.3941A>G (p.Asn1314Ser)
c.4064A>G (p.Asn1355Ser)
n.612-19395T>C
c.3710A>G (p.Asn1237Ser)
c.3353A>G (p.Asn1118Ser)
 gnomAD v4
2g.166228800T>GCA349063618SCN1A-AS1,SCN9Ac.4097A>C (p.Asn1366Thr)
c.3941A>C (p.Asn1314Thr)
c.4064A>C (p.Asn1355Thr)
n.612-19395T>G
c.3710A>C (p.Asn1237Thr)
c.3353A>C (p.Asn1118Thr)
2g.166228801T>ACA349063624SCN1A-AS1,SCN9Ac.4096A>T (p.Asn1366Tyr)
c.3940A>T (p.Asn1314Tyr)
c.4063A>T (p.Asn1355Tyr)
n.612-19394T>A
c.3709A>T (p.Asn1237Tyr)
c.3352A>T (p.Asn1118Tyr)
2g.166228801T>CCA349063626SCN1A-AS1,SCN9Ac.4096A>G (p.Asn1366Asp)
c.3940A>G (p.Asn1314Asp)
c.4063A>G (p.Asn1355Asp)
n.612-19394T>C
c.3709A>G (p.Asn1237Asp)
c.3352A>G (p.Asn1118Asp)
2g.166228801T>GCA349063621SCN1A-AS1,SCN9Ac.4096A>C (p.Asn1366His)
c.3940A>C (p.Asn1314His)
c.4063A>C (p.Asn1355His)
n.612-19394T>G
c.3709A>C (p.Asn1237His)
c.3352A>C (p.Asn1118His)
 dbSNP
2g.166228801T=CA1304943647SCN1A-AS1,SCN9Ac.4096A= (p.Asn1366=)
c.3940A= (p.Asn1314=)
c.4063A= (p.Asn1355=)
n.612-19394T=
c.3709A= (p.Asn1237=)
c.3352A= (p.Asn1118=)
2g.166228802T>ACA429899196SCN1A-AS1,SCN9Ac.4095A>T (p.Pro1365=)
c.3939A>T (p.Pro1313=)
c.4062A>T (p.Pro1354=)
n.612-19393T>A
c.3708A>T (p.Pro1236=)
c.3351A>T (p.Pro1117=)
2g.166228802T>CCA429899197SCN1A-AS1,SCN9Ac.4095A>G (p.Pro1365=)
c.3939A>G (p.Pro1313=)
c.4062A>G (p.Pro1354=)
n.612-19393T>C
c.3708A>G (p.Pro1236=)
c.3351A>G (p.Pro1117=)
2g.166228802T>GCA429899198SCN1A-AS1,SCN9Ac.4095A>C (p.Pro1365=)
c.3939A>C (p.Pro1313=)
c.4062A>C (p.Pro1354=)
n.612-19393T>G
c.3708A>C (p.Pro1236=)
c.3351A>C (p.Pro1117=)
2g.166228803G>ACA349063629SCN1A-AS1,SCN9Ac.4094C>T (p.Pro1365Leu)
c.3938C>T (p.Pro1313Leu)
c.4061C>T (p.Pro1354Leu)
n.612-19392G>A
c.3707C>T (p.Pro1236Leu)
c.3350C>T (p.Pro1117Leu)
 gnomAD v4
2g.166228803G>CCA349063630SCN1A-AS1,SCN9Ac.4094C>G (p.Pro1365Arg)
c.3938C>G (p.Pro1313Arg)
c.4061C>G (p.Pro1354Arg)
n.612-19392G>C
c.3707C>G (p.Pro1236Arg)
c.3350C>G (p.Pro1117Arg)
2g.166228803G>TCA349063632SCN1A-AS1,SCN9Ac.4094C>A (p.Pro1365Gln)
c.3938C>A (p.Pro1313Gln)
c.4061C>A (p.Pro1354Gln)
n.612-19392G>T
c.3707C>A (p.Pro1236Gln)
c.3350C>A (p.Pro1117Gln)
2g.166228804G>ACA349063636SCN1A-AS1,SCN9Ac.4093C>T (p.Pro1365Ser)
c.3937C>T (p.Pro1313Ser)
c.4060C>T (p.Pro1354Ser)
n.612-19391G>A
c.3706C>T (p.Pro1236Ser)
c.3349C>T (p.Pro1117Ser)
2g.166228804G>CCA349063639SCN1A-AS1,SCN9Ac.4093C>G (p.Pro1365Ala)
c.3937C>G (p.Pro1313Ala)
c.4060C>G (p.Pro1354Ala)
n.612-19391G>C
c.3706C>G (p.Pro1236Ala)
c.3349C>G (p.Pro1117Ala)
 ClinVar dbSNP
2g.166228804G=CA1304943648SCN1A-AS1,SCN9Ac.4093C= (p.Pro1365=)
c.3937C= (p.Pro1313=)
c.4060C= (p.Pro1354=)
n.612-19391G=
c.3706C= (p.Pro1236=)
c.3349C= (p.Pro1117=)
2g.166228804G>TCA349063642SCN1A-AS1,SCN9Ac.4093C>A (p.Pro1365Thr)
c.3937C>A (p.Pro1313Thr)
c.4060C>A (p.Pro1354Thr)
n.612-19391G>T
c.3706C>A (p.Pro1236Thr)
c.3349C>A (p.Pro1117Thr)
2g.166228805A>CCA429899199SCN1A-AS1,SCN9Ac.4092T>G (p.Val1364=)
c.3936T>G (p.Val1312=)
c.4059T>G (p.Val1353=)
n.612-19390A>C
c.3705T>G (p.Val1235=)
c.3348T>G (p.Val1116=)
2g.166228805A>GCA429899200SCN1A-AS1,SCN9Ac.4092T>C (p.Val1364=)
c.3936T>C (p.Val1312=)
c.4059T>C (p.Val1353=)
n.612-19390A>G
c.3705T>C (p.Val1235=)
c.3348T>C (p.Val1116=)
2g.166228805A>TCA429899201SCN1A-AS1,SCN9Ac.4092T>A (p.Val1364=)
c.3936T>A (p.Val1312=)
c.4059T>A (p.Val1353=)
n.612-19390A>T
c.3705T>A (p.Val1235=)
c.3348T>A (p.Val1116=)
2g.166228806A>CCA349063650SCN1A-AS1,SCN9Ac.4091T>G (p.Val1364Gly)
c.3935T>G (p.Val1312Gly)
c.4058T>G (p.Val1353Gly)
n.612-19389A>C
c.3704T>G (p.Val1235Gly)
c.3347T>G (p.Val1116Gly)
2g.166228806A>GCA349063645SCN1A-AS1,SCN9Ac.4091T>C (p.Val1364Ala)
c.3935T>C (p.Val1312Ala)
c.4058T>C (p.Val1353Ala)
n.612-19389A>G
c.3704T>C (p.Val1235Ala)
c.3347T>C (p.Val1116Ala)
2g.166228806A>TCA349063648SCN1A-AS1,SCN9Ac.4091T>A (p.Val1364Asp)
c.3935T>A (p.Val1312Asp)
c.4058T>A (p.Val1353Asp)
n.612-19389A>T
c.3704T>A (p.Val1235Asp)
c.3347T>A (p.Val1116Asp)
2g.166228807C>ACA349063653SCN1A-AS1,SCN9Ac.4090G>T (p.Val1364Phe)
c.3934G>T (p.Val1312Phe)
c.4057G>T (p.Val1353Phe)
n.612-19388C>A
c.3703G>T (p.Val1235Phe)
c.3346G>T (p.Val1116Phe)
2g.166228807C>GCA349063655SCN1A-AS1,SCN9Ac.4090G>C (p.Val1364Leu)
c.3934G>C (p.Val1312Leu)
c.4057G>C (p.Val1353Leu)
n.612-19388C>G
c.3703G>C (p.Val1235Leu)
c.3346G>C (p.Val1116Leu)
2g.166228807C>TCA349063657SCN1A-AS1,SCN9Ac.4090G>A (p.Val1364Ile)
c.3934G>A (p.Val1312Ile)
c.4057G>A (p.Val1353Ile)
n.612-19388C>T
c.3703G>A (p.Val1235Ile)
c.3346G>A (p.Val1116Ile)
2g.166228808T>ACA349063660SCN1A-AS1,SCN9Ac.4089A>T (p.Gln1363His)
c.3933A>T (p.Gln1311His)
c.4056A>T (p.Gln1352His)
n.612-19387T>A
c.3702A>T (p.Gln1234His)
c.3345A>T (p.Gln1115His)
2g.166228808T>CCA59810284SCN1A-AS1,SCN9Ac.4089A>G (p.Gln1363=)
c.3933A>G (p.Gln1311=)
c.4056A>G (p.Gln1352=)
n.612-19387T>C
c.3702A>G (p.Gln1234=)
c.3345A>G (p.Gln1115=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228808T>GCA349063667SCN1A-AS1,SCN9Ac.4089A>C (p.Gln1363His)
c.3933A>C (p.Gln1311His)
c.4056A>C (p.Gln1352His)
n.612-19387T>G
c.3702A>C (p.Gln1234His)
c.3345A>C (p.Gln1115His)
2g.166228808T=CA1304943649SCN1A-AS1,SCN9Ac.4089A= (p.Gln1363=)
c.3933A= (p.Gln1311=)
c.4056A= (p.Gln1352=)
n.612-19387T=
c.3702A= (p.Gln1234=)
c.3345A= (p.Gln1115=)
2g.166228809T>ACA349063669SCN1A-AS1,SCN9Ac.4088A>T (p.Gln1363Leu)
c.3932A>T (p.Gln1311Leu)
c.4055A>T (p.Gln1352Leu)
n.612-19386T>A
c.3701A>T (p.Gln1234Leu)
c.3344A>T (p.Gln1115Leu)
2g.166228809T>CCA1943952SCN1A-AS1,SCN9Ac.4088A>G (p.Gln1363Arg)
c.3932A>G (p.Gln1311Arg)
c.4055A>G (p.Gln1352Arg)
n.612-19386T>C
c.3701A>G (p.Gln1234Arg)
c.3344A>G (p.Gln1115Arg)
 dbSNP ExAC gnomAD v4
2g.166228809T>GCA349063673SCN1A-AS1,SCN9Ac.4088A>C (p.Gln1363Pro)
c.3932A>C (p.Gln1311Pro)
c.4055A>C (p.Gln1352Pro)
n.612-19386T>G
c.3701A>C (p.Gln1234Pro)
c.3344A>C (p.Gln1115Pro)
2g.166228809T=CA1304943650SCN1A-AS1,SCN9Ac.4088A= (p.Gln1363=)
c.3932A= (p.Gln1311=)
c.4055A= (p.Gln1352=)
n.612-19386T=
c.3701A= (p.Gln1234=)
c.3344A= (p.Gln1115=)
2g.166228810G>ACA349063679SCN1A-AS1,SCN9Ac.4087C>T (p.Gln1363Ter)
c.3931C>T (p.Gln1311Ter)
c.4054C>T (p.Gln1352Ter)
n.612-19385G>A
c.3700C>T (p.Gln1234Ter)
c.3343C>T (p.Gln1115Ter)
 dbSNP gnomAD v4
2g.166228810G>CCA349063682SCN1A-AS1,SCN9Ac.4087C>G (p.Gln1363Glu)
c.3931C>G (p.Gln1311Glu)
c.4054C>G (p.Gln1352Glu)
n.612-19385G>C
c.3700C>G (p.Gln1234Glu)
c.3343C>G (p.Gln1115Glu)
2g.166228810G=CA1304943651SCN1A-AS1,SCN9Ac.4087C= (p.Gln1363=)
c.3931C= (p.Gln1311=)
c.4054C= (p.Gln1352=)
n.612-19385G=
c.3700C= (p.Gln1234=)
c.3343C= (p.Gln1115=)
2g.166228810G>TCA349063686SCN1A-AS1,SCN9Ac.4087C>A (p.Gln1363Lys)
c.3931C>A (p.Gln1311Lys)
c.4054C>A (p.Gln1352Lys)
n.612-19385G>T
c.3700C>A (p.Gln1234Lys)
c.3343C>A (p.Gln1115Lys)
2g.166228811A>CCA349063689SCN1A-AS1,SCN9Ac.4086T>G (p.Ser1362Arg)
c.3930T>G (p.Ser1310Arg)
c.4053T>G (p.Ser1351Arg)
n.612-19384A>C
c.3699T>G (p.Ser1233Arg)
c.3342T>G (p.Ser1114Arg)
2g.166228811A>GCA429899206SCN1A-AS1,SCN9Ac.4086T>C (p.Ser1362=)
c.3930T>C (p.Ser1310=)
c.4053T>C (p.Ser1351=)
n.612-19384A>G
c.3699T>C (p.Ser1233=)
c.3342T>C (p.Ser1114=)
2g.166228811A>TCA349063692SCN1A-AS1,SCN9Ac.4086T>A (p.Ser1362Arg)
c.3930T>A (p.Ser1310Arg)
c.4053T>A (p.Ser1351Arg)
n.612-19384A>T
c.3699T>A (p.Ser1233Arg)
c.3342T>A (p.Ser1114Arg)
2g.166228812C>ACA349063696SCN1A-AS1,SCN9Ac.4085G>T (p.Ser1362Ile)
c.3929G>T (p.Ser1310Ile)
c.4052G>T (p.Ser1351Ile)
n.612-19383C>A
c.3698G>T (p.Ser1233Ile)
c.3341G>T (p.Ser1114Ile)
2g.166228812C>GCA349063699SCN1A-AS1,SCN9Ac.4085G>C (p.Ser1362Thr)
c.3929G>C (p.Ser1310Thr)
c.4052G>C (p.Ser1351Thr)
n.612-19383C>G
c.3698G>C (p.Ser1233Thr)
c.3341G>C (p.Ser1114Thr)
2g.166228812C>TCA349063702SCN1A-AS1,SCN9Ac.4085G>A (p.Ser1362Asn)
c.3929G>A (p.Ser1310Asn)
c.4052G>A (p.Ser1351Asn)
n.612-19383C>T
c.3698G>A (p.Ser1233Asn)
c.3341G>A (p.Ser1114Asn)
2g.166228812_166228813delinsCTCA1304943652SCN1A-AS1,SCN9Ac.4084_4085delinsAG (p.Ser1362=)
c.3928_3929delinsAG (p.Ser1310=)
c.4051_4052delinsAG (p.Ser1351=)
n.612-19383_612-19382delinsCT
c.3697_3698delinsAG (p.Ser1233=)
c.3340_3341delinsAG (p.Ser1114=)
2g.166228813T>ACA349063706SCN1A-AS1,SCN9Ac.4084A>T (p.Ser1362Cys)
c.3928A>T (p.Ser1310Cys)
c.4051A>T (p.Ser1351Cys)
n.612-19382T>A
c.3697A>T (p.Ser1233Cys)
c.3340A>T (p.Ser1114Cys)
2g.166228813T>CCA1943954SCN1A-AS1,SCN9Ac.4084A>G (p.Ser1362Gly)
c.3928A>G (p.Ser1310Gly)
c.4051A>G (p.Ser1351Gly)
n.612-19382T>C
c.3697A>G (p.Ser1233Gly)
c.3340A>G (p.Ser1114Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228813T>GCA349063711SCN1A-AS1,SCN9Ac.4084A>C (p.Ser1362Arg)
c.3928A>C (p.Ser1310Arg)
c.4051A>C (p.Ser1351Arg)
n.612-19382T>G
c.3697A>C (p.Ser1233Arg)
c.3340A>C (p.Ser1114Arg)
2g.166228813T=CA1304943653SCN1A-AS1,SCN9Ac.4084A= (p.Ser1362=)
c.3928A= (p.Ser1310=)
c.4051A= (p.Ser1351=)
n.612-19382T=
c.3697A= (p.Ser1233=)
c.3340A= (p.Ser1114=)
2g.166228814delCA1943953SCN1A-AS1,SCN9Ac.4084del (p.Ser1362ValfsTer13)
c.3928del (p.Ser1310ValfsTer13)
c.4051del (p.Ser1351ValfsTer13)
n.612-19381del
c.3697del (p.Ser1233ValfsTer13)
c.3340del (p.Ser1114ValfsTer13)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228814T>ACA429899208SCN1A-AS1,SCN9Ac.4083A>T (p.Ala1361=)
c.3927A>T (p.Ala1309=)
c.4050A>T (p.Ala1350=)
n.612-19381T>A
c.3696A>T (p.Ala1232=)
c.3339A>T (p.Ala1113=)
2g.166228814T>CCA429899210SCN1A-AS1,SCN9Ac.4083A>G (p.Ala1361=)
c.3927A>G (p.Ala1309=)
c.4050A>G (p.Ala1350=)
n.612-19381T>C
c.3696A>G (p.Ala1232=)
c.3339A>G (p.Ala1113=)
2g.166228814T>GCA429899212SCN1A-AS1,SCN9Ac.4083A>C (p.Ala1361=)
c.3927A>C (p.Ala1309=)
c.4050A>C (p.Ala1350=)
n.612-19381T>G
c.3696A>C (p.Ala1232=)
c.3339A>C (p.Ala1113=)
2g.166228815G>ACA349063715SCN1A-AS1,SCN9Ac.4082C>T (p.Ala1361Val)
c.3926C>T (p.Ala1309Val)
c.4049C>T (p.Ala1350Val)
n.612-19380G>A
c.3695C>T (p.Ala1232Val)
c.3338C>T (p.Ala1113Val)
2g.166228815G>CCA349063720SCN1A-AS1,SCN9Ac.4082C>G (p.Ala1361Gly)
c.3926C>G (p.Ala1309Gly)
c.4049C>G (p.Ala1350Gly)
n.612-19380G>C
c.3695C>G (p.Ala1232Gly)
c.3338C>G (p.Ala1113Gly)
 gnomAD v4
2g.166228815G>TCA349063717SCN1A-AS1,SCN9Ac.4082C>A (p.Ala1361Glu)
c.3926C>A (p.Ala1309Glu)
c.4049C>A (p.Ala1350Glu)
n.612-19380G>T
c.3695C>A (p.Ala1232Glu)
c.3338C>A (p.Ala1113Glu)
 ClinVar dbSNP gnomAD v4
2g.166228816C>ACA349063723SCN1A-AS1,SCN9Ac.4081G>T (p.Ala1361Ser)
c.3925G>T (p.Ala1309Ser)
c.4048G>T (p.Ala1350Ser)
n.612-19379C>A
c.3694G>T (p.Ala1232Ser)
c.3337G>T (p.Ala1113Ser)
2g.166228816C>GCA349063727SCN1A-AS1,SCN9Ac.4081G>C (p.Ala1361Pro)
c.3925G>C (p.Ala1309Pro)
c.4048G>C (p.Ala1350Pro)
n.612-19379C>G
c.3694G>C (p.Ala1232Pro)
c.3337G>C (p.Ala1113Pro)
2g.166228816C>TCA349063729SCN1A-AS1,SCN9Ac.4081G>A (p.Ala1361Thr)
c.3925G>A (p.Ala1309Thr)
c.4048G>A (p.Ala1350Thr)
n.612-19379C>T
c.3694G>A (p.Ala1232Thr)
c.3337G>A (p.Ala1113Thr)
2g.166228817A>CCA429899214SCN1A-AS1,SCN9Ac.4080T>G (p.Pro1360=)
c.3924T>G (p.Pro1308=)
c.4047T>G (p.Pro1349=)
n.612-19378A>C
c.3693T>G (p.Pro1231=)
c.3336T>G (p.Pro1112=)
 ClinVar
2g.166228817A>GCA429899215SCN1A-AS1,SCN9Ac.4080T>C (p.Pro1360=)
c.3924T>C (p.Pro1308=)
c.4047T>C (p.Pro1349=)
n.612-19378A>G
c.3693T>C (p.Pro1231=)
c.3336T>C (p.Pro1112=)
 gnomAD v4
2g.166228817A>TCA429899216SCN1A-AS1,SCN9Ac.4080T>A (p.Pro1360=)
c.3924T>A (p.Pro1308=)
c.4047T>A (p.Pro1349=)
n.612-19378A>T
c.3693T>A (p.Pro1231=)
c.3336T>A (p.Pro1112=)
2g.166228818G>ACA349063732SCN1A-AS1,SCN9Ac.4079C>T (p.Pro1360Leu)
c.3923C>T (p.Pro1308Leu)
c.4046C>T (p.Pro1349Leu)
n.612-19377G>A
c.3692C>T (p.Pro1231Leu)
c.3335C>T (p.Pro1112Leu)
 dbSNP COSMIC COSMIC
2g.166228818G>CCA349063735SCN1A-AS1,SCN9Ac.4079C>G (p.Pro1360Arg)
c.3923C>G (p.Pro1308Arg)
c.4046C>G (p.Pro1349Arg)
n.612-19377G>C
c.3692C>G (p.Pro1231Arg)
c.3335C>G (p.Pro1112Arg)
2g.166228818G=CA1304943654SCN1A-AS1,SCN9Ac.4079C= (p.Pro1360=)
c.3923C= (p.Pro1308=)
c.4046C= (p.Pro1349=)
n.612-19377G=
c.3692C= (p.Pro1231=)
c.3335C= (p.Pro1112=)
2g.166228818G>TCA349063738SCN1A-AS1,SCN9Ac.4079C>A (p.Pro1360His)
c.3923C>A (p.Pro1308His)
c.4046C>A (p.Pro1349His)
n.612-19377G>T
c.3692C>A (p.Pro1231His)
c.3335C>A (p.Pro1112His)
2g.166228819G>ACA349063747SCN1A-AS1,SCN9Ac.4078C>T (p.Pro1360Ser)
c.3922C>T (p.Pro1308Ser)
c.4045C>T (p.Pro1349Ser)
n.612-19376G>A
c.3691C>T (p.Pro1231Ser)
c.3334C>T (p.Pro1112Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228819G>CCA349063739SCN1A-AS1,SCN9Ac.4078C>G (p.Pro1360Ala)
c.3922C>G (p.Pro1308Ala)
c.4045C>G (p.Pro1349Ala)
n.612-19376G>C
c.3691C>G (p.Pro1231Ala)
c.3334C>G (p.Pro1112Ala)
2g.166228819G=CA1304943655SCN1A-AS1,SCN9Ac.4078C= (p.Pro1360=)
c.3922C= (p.Pro1308=)
c.4045C= (p.Pro1349=)
n.612-19376G=
c.3691C= (p.Pro1231=)
c.3334C= (p.Pro1112=)
2g.166228819G>TCA349063744SCN1A-AS1,SCN9Ac.4078C>A (p.Pro1360Thr)
c.3922C>A (p.Pro1308Thr)
c.4045C>A (p.Pro1349Thr)
n.612-19376G>T
c.3691C>A (p.Pro1231Thr)
c.3334C>A (p.Pro1112Thr)
2g.166228819_166228820delinsGACA1304943656SCN1A-AS1,SCN9Ac.4077_4078delinsTC (p.Phe1359=)
c.3921_3922delinsTC (p.Phe1307=)
c.4044_4045delinsTC (p.Phe1348=)
n.612-19376_612-19375delinsGA
c.3690_3691delinsTC (p.Phe1230=)
c.3333_3334delinsTC (p.Phe1111=)
2g.166228820A=CA1304943657SCN1A-AS1,SCN9Ac.4077T= (p.Phe1359=)
c.3921T= (p.Phe1307=)
c.4044T= (p.Phe1348=)
n.612-19375A=
c.3690T= (p.Phe1230=)
c.3333T= (p.Phe1111=)
2g.166228820A>CCA349063750SCN1A-AS1,SCN9Ac.4077T>G (p.Phe1359Leu)
c.3921T>G (p.Phe1307Leu)
c.4044T>G (p.Phe1348Leu)
n.612-19375A>C
c.3690T>G (p.Phe1230Leu)
c.3333T>G (p.Phe1111Leu)
2g.166228820A>GCA429899220SCN1A-AS1,SCN9Ac.4077T>C (p.Phe1359=)
c.3921T>C (p.Phe1307=)
c.4044T>C (p.Phe1348=)
n.612-19375A>G
c.3690T>C (p.Phe1230=)
c.3333T>C (p.Phe1111=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228820A>TCA349063754SCN1A-AS1,SCN9Ac.4077T>A (p.Phe1359Leu)
c.3921T>A (p.Phe1307Leu)
c.4044T>A (p.Phe1348Leu)
n.612-19375A>T
c.3690T>A (p.Phe1230Leu)
c.3333T>A (p.Phe1111Leu)
2g.166228822delCA1304943658SCN1A-AS1,SCN9Ac.4077del (p.Pro1360LeufsTer15)
c.3921del (p.Pro1308LeufsTer15)
c.4044del (p.Pro1349LeufsTer15)
n.612-19373del
c.3690del (p.Pro1231LeufsTer15)
c.3333del (p.Pro1112LeufsTer15)
 dbSNP
2g.166228821A=CA1304943659SCN1A-AS1,SCN9Ac.4076T= (p.Phe1359=)
c.3920T= (p.Phe1307=)
c.4043T= (p.Phe1348=)
n.612-19374A=
c.3689T= (p.Phe1230=)
c.3332T= (p.Phe1111=)
2g.166228821A>CCA349063757SCN1A-AS1,SCN9Ac.4076T>G (p.Phe1359Cys)
c.3920T>G (p.Phe1307Cys)
c.4043T>G (p.Phe1348Cys)
n.612-19374A>C
c.3689T>G (p.Phe1230Cys)
c.3332T>G (p.Phe1111Cys)
2g.166228821A>GCA349063759SCN1A-AS1,SCN9Ac.4076T>C (p.Phe1359Ser)
c.3920T>C (p.Phe1307Ser)
c.4043T>C (p.Phe1348Ser)
n.612-19374A>G
c.3689T>C (p.Phe1230Ser)
c.3332T>C (p.Phe1111Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228821A>TCA349063761SCN1A-AS1,SCN9Ac.4076T>A (p.Phe1359Tyr)
c.3920T>A (p.Phe1307Tyr)
c.4043T>A (p.Phe1348Tyr)
n.612-19374A>T
c.3689T>A (p.Phe1230Tyr)
c.3332T>A (p.Phe1111Tyr)
2g.166228822A=CA1304943660SCN1A-AS1,SCN9Ac.4075T= (p.Phe1359=)
c.3919T= (p.Phe1307=)
c.4042T= (p.Phe1348=)
n.612-19373A=
c.3688T= (p.Phe1230=)
c.3331T= (p.Phe1111=)
2g.166228822A>CCA349063765SCN1A-AS1,SCN9Ac.4075T>G (p.Phe1359Val)
c.3919T>G (p.Phe1307Val)
c.4042T>G (p.Phe1348Val)
n.612-19373A>C
c.3688T>G (p.Phe1230Val)
c.3331T>G (p.Phe1111Val)
2g.166228822A>GCA349063775SCN1A-AS1,SCN9Ac.4075T>C (p.Phe1359Leu)
c.3919T>C (p.Phe1307Leu)
c.4042T>C (p.Phe1348Leu)
n.612-19373A>G
c.3688T>C (p.Phe1230Leu)
c.3331T>C (p.Phe1111Leu)
 dbSNP
2g.166228822A>TCA349063771SCN1A-AS1,SCN9Ac.4075T>A (p.Phe1359Ile)
c.3919T>A (p.Phe1307Ile)
c.4042T>A (p.Phe1348Ile)
n.612-19373A>T
c.3688T>A (p.Phe1230Ile)
c.3331T>A (p.Phe1111Ile)
2g.166228823C>ACA429899221SCN1A-AS1,SCN9Ac.4074G>T (p.Arg1358=)
c.3918G>T (p.Arg1306=)
c.4041G>T (p.Arg1347=)
n.612-19372C>A
c.3687G>T (p.Arg1229=)
c.3330G>T (p.Arg1110=)
2g.166228823C>GCA429899222SCN1A-AS1,SCN9Ac.4074G>C (p.Arg1358=)
c.3918G>C (p.Arg1306=)
c.4041G>C (p.Arg1347=)
n.612-19372C>G
c.3687G>C (p.Arg1229=)
c.3330G>C (p.Arg1110=)
2g.166228823C>TCA429899224SCN1A-AS1,SCN9Ac.4074G>A (p.Arg1358=)
c.3918G>A (p.Arg1306=)
c.4041G>A (p.Arg1347=)
n.612-19372C>T
c.3687G>A (p.Arg1229=)
c.3330G>A (p.Arg1110=)
2g.166228824C>ACA349063779SCN1A-AS1,SCN9Ac.4073G>T (p.Arg1358Leu)
c.3917G>T (p.Arg1306Leu)
c.4040G>T (p.Arg1347Leu)
n.612-19371C>A
c.3686G>T (p.Arg1229Leu)
c.3329G>T (p.Arg1110Leu)
2g.166228824C=CA1304943661SCN1A-AS1,SCN9Ac.4073G= (p.Arg1358=)
c.3917G= (p.Arg1306=)
c.4040G= (p.Arg1347=)
n.612-19371C=
c.3686G= (p.Arg1229=)
c.3329G= (p.Arg1110=)
2g.166228824C>GCA1943955SCN1A-AS1,SCN9Ac.4073G>C (p.Arg1358Pro)
c.3917G>C (p.Arg1306Pro)
c.4040G>C (p.Arg1347Pro)
n.612-19371C>G
c.3686G>C (p.Arg1229Pro)
c.3329G>C (p.Arg1110Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228824C>TCA242197SCN1A-AS1,SCN9Ac.4073G>A (p.Arg1358Gln)
c.3917G>A (p.Arg1306Gln)
c.4040G>A (p.Arg1347Gln)
n.612-19371C>T
c.3686G>A (p.Arg1229Gln)
c.3329G>A (p.Arg1110Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228825G>ACA349063786SCN1A-AS1,SCN9Ac.4072C>T (p.Arg1358Trp)
c.3916C>T (p.Arg1306Trp)
c.4039C>T (p.Arg1347Trp)
n.612-19370G>A
c.3685C>T (p.Arg1229Trp)
c.3328C>T (p.Arg1110Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228825G>CCA349063789SCN1A-AS1,SCN9Ac.4072C>G (p.Arg1358Gly)
c.3916C>G (p.Arg1306Gly)
c.4039C>G (p.Arg1347Gly)
n.612-19370G>C
c.3685C>G (p.Arg1229Gly)
c.3328C>G (p.Arg1110Gly)
2g.166228825G=CA1304943662SCN1A-AS1,SCN9Ac.4072C= (p.Arg1358=)
c.3916C= (p.Arg1306=)
c.4039C= (p.Arg1347=)
n.612-19370G=
c.3685C= (p.Arg1229=)
c.3328C= (p.Arg1110=)
2g.166228825G>TCA429899226SCN1A-AS1,SCN9Ac.4072C>A (p.Arg1358=)
c.3916C>A (p.Arg1306=)
c.4039C>A (p.Arg1347=)
n.612-19370G>T
c.3685C>A (p.Arg1229=)
c.3328C>A (p.Arg1110=)
 dbSNP gnomAD v4
2g.166228826T>ACA429899227SCN1A-AS1,SCN9Ac.4071A>T (p.Ser1357=)
c.3915A>T (p.Ser1305=)
c.4038A>T (p.Ser1346=)
n.612-19369T>A
c.3684A>T (p.Ser1228=)
c.3327A>T (p.Ser1109=)
2g.166228826T>CCA429899228SCN1A-AS1,SCN9Ac.4071A>G (p.Ser1357=)
c.3915A>G (p.Ser1305=)
c.4038A>G (p.Ser1346=)
n.612-19369T>C
c.3684A>G (p.Ser1228=)
c.3327A>G (p.Ser1109=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228826T>GCA429899229SCN1A-AS1,SCN9Ac.4071A>C (p.Ser1357=)
c.3915A>C (p.Ser1305=)
c.4038A>C (p.Ser1346=)
n.612-19369T>G
c.3684A>C (p.Ser1228=)
c.3327A>C (p.Ser1109=)
2g.166228826T=CA1304943663SCN1A-AS1,SCN9Ac.4071A= (p.Ser1357=)
c.3915A= (p.Ser1305=)
c.4038A= (p.Ser1346=)
n.612-19369T=
c.3684A= (p.Ser1228=)
c.3327A= (p.Ser1109=)
2g.166228827G>ACA1943956SCN1A-AS1,SCN9Ac.4070C>T (p.Ser1357Leu)
c.3914C>T (p.Ser1305Leu)
c.4037C>T (p.Ser1346Leu)
n.612-19368G>A
c.3683C>T (p.Ser1228Leu)
c.3326C>T (p.Ser1109Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228827G>CCA349063798SCN1A-AS1,SCN9Ac.4070C>G (p.Ser1357Ter)
c.3914C>G (p.Ser1305Ter)
c.4037C>G (p.Ser1346Ter)
n.612-19368G>C
c.3683C>G (p.Ser1228Ter)
c.3326C>G (p.Ser1109Ter)
2g.166228827G=CA1304943664SCN1A-AS1,SCN9Ac.4070C= (p.Ser1357=)
c.3914C= (p.Ser1305=)
c.4037C= (p.Ser1346=)
n.612-19368G=
c.3683C= (p.Ser1228=)
c.3326C= (p.Ser1109=)
2g.166228827G>TCA349063801SCN1A-AS1,SCN9Ac.4070C>A (p.Ser1357Ter)
c.3914C>A (p.Ser1305Ter)
c.4037C>A (p.Ser1346Ter)
n.612-19368G>T
c.3683C>A (p.Ser1228Ter)
c.3326C>A (p.Ser1109Ter)
2g.166228828A>CCA349063809SCN1A-AS1,SCN9Ac.4069T>G (p.Ser1357Ala)
c.3913T>G (p.Ser1305Ala)
c.4036T>G (p.Ser1346Ala)
n.612-19367A>C
c.3682T>G (p.Ser1228Ala)
c.3325T>G (p.Ser1109Ala)
 gnomAD v4
2g.166228828A>GCA349063810SCN1A-AS1,SCN9Ac.4069T>C (p.Ser1357Pro)
c.3913T>C (p.Ser1305Pro)
c.4036T>C (p.Ser1346Pro)
n.612-19367A>G
c.3682T>C (p.Ser1228Pro)
c.3325T>C (p.Ser1109Pro)
2g.166228828A>TCA349063814SCN1A-AS1,SCN9Ac.4069T>A (p.Ser1357Thr)
c.3913T>A (p.Ser1305Thr)
c.4036T>A (p.Ser1346Thr)
n.612-19367A>T
c.3682T>A (p.Ser1228Thr)
c.3325T>A (p.Ser1109Thr)
2g.166228829C>ACA429899233SCN1A-AS1,SCN9Ac.4068G>T (p.Gly1356=)
c.3912G>T (p.Gly1304=)
c.4035G>T (p.Gly1345=)
n.612-19366C>A
c.3681G>T (p.Gly1227=)
c.3324G>T (p.Gly1108=)
2g.166228829C>GCA429899234SCN1A-AS1,SCN9Ac.4068G>C (p.Gly1356=)
c.3912G>C (p.Gly1304=)
c.4035G>C (p.Gly1345=)
n.612-19366C>G
c.3681G>C (p.Gly1227=)
c.3324G>C (p.Gly1108=)
2g.166228829C>TCA429899235SCN1A-AS1,SCN9Ac.4068G>A (p.Gly1356=)
c.3912G>A (p.Gly1304=)
c.4035G>A (p.Gly1345=)
n.612-19366C>T
c.3681G>A (p.Gly1227=)
c.3324G>A (p.Gly1108=)
2g.166228830C>ACA349063822SCN1A-AS1,SCN9Ac.4067G>T (p.Gly1356Val)
c.3911G>T (p.Gly1304Val)
c.4034G>T (p.Gly1345Val)
n.612-19365C>A
c.3680G>T (p.Gly1227Val)
c.3323G>T (p.Gly1108Val)
2g.166228830C>GCA349063823SCN1A-AS1,SCN9Ac.4067G>C (p.Gly1356Ala)
c.3911G>C (p.Gly1304Ala)
c.4034G>C (p.Gly1345Ala)
n.612-19365C>G
c.3680G>C (p.Gly1227Ala)
c.3323G>C (p.Gly1108Ala)
2g.166228830C>TCA349063816SCN1A-AS1,SCN9Ac.4067G>A (p.Gly1356Glu)
c.3911G>A (p.Gly1304Glu)
c.4034G>A (p.Gly1345Glu)
n.612-19365C>T
c.3680G>A (p.Gly1227Glu)
c.3323G>A (p.Gly1108Glu)
2g.166228831C>ACA349063824SCN1A-AS1,SCN9Ac.4066G>T (p.Gly1356Trp)
c.3910G>T (p.Gly1304Trp)
c.4033G>T (p.Gly1345Trp)
n.612-19364C>A
c.3679G>T (p.Gly1227Trp)
c.3322G>T (p.Gly1108Trp)
 ClinVar dbSNP gnomAD v4
2g.166228831C=CA1304943665SCN1A-AS1,SCN9Ac.4066G= (p.Gly1356=)
c.3910G= (p.Gly1304=)
c.4033G= (p.Gly1345=)
n.612-19364C=
c.3679G= (p.Gly1227=)
c.3322G= (p.Gly1108=)
2g.166228831C>GCA349063826SCN1A-AS1,SCN9Ac.4066G>C (p.Gly1356Arg)
c.3910G>C (p.Gly1304Arg)
c.4033G>C (p.Gly1345Arg)
n.612-19364C>G
c.3679G>C (p.Gly1227Arg)
c.3322G>C (p.Gly1108Arg)
2g.166228831C>TCA349063825SCN1A-AS1,SCN9Ac.4066G>A (p.Gly1356Arg)
c.3910G>A (p.Gly1304Arg)
c.4033G>A (p.Gly1345Arg)
n.612-19364C>T
c.3679G>A (p.Gly1227Arg)
c.3322G>A (p.Gly1108Arg)
2g.166228832A=CA1304943666SCN1A-AS1,SCN9Ac.4065T= (p.Asp1355=)
c.3909T= (p.Asp1303=)
c.4032T= (p.Asp1344=)
n.612-19363A=
c.3678T= (p.Asp1226=)
c.3321T= (p.Asp1107=)
2g.166228832A>CCA349063829SCN1A-AS1,SCN9Ac.4065T>G (p.Asp1355Glu)
c.3909T>G (p.Asp1303Glu)
c.4032T>G (p.Asp1344Glu)
n.612-19363A>C
c.3678T>G (p.Asp1226Glu)
c.3321T>G (p.Asp1107Glu)
 gnomAD v4
2g.166228832A>GCA1943957SCN1A-AS1,SCN9Ac.4065T>C (p.Asp1355=)
c.3909T>C (p.Asp1303=)
c.4032T>C (p.Asp1344=)
n.612-19363A>G
c.3678T>C (p.Asp1226=)
c.3321T>C (p.Asp1107=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228832A>TCA349063833SCN1A-AS1,SCN9Ac.4065T>A (p.Asp1355Glu)
c.3909T>A (p.Asp1303Glu)
c.4032T>A (p.Asp1344Glu)
n.612-19363A>T
c.3678T>A (p.Asp1226Glu)
c.3321T>A (p.Asp1107Glu)
2g.166228833T>ACA349063837SCN1A-AS1,SCN9Ac.4064A>T (p.Asp1355Val)
c.3908A>T (p.Asp1303Val)
c.4031A>T (p.Asp1344Val)
n.612-19362T>A
c.3677A>T (p.Asp1226Val)
c.3320A>T (p.Asp1107Val)
2g.166228833T>CCA349063842SCN1A-AS1,SCN9Ac.4064A>G (p.Asp1355Gly)
c.3908A>G (p.Asp1303Gly)
c.4031A>G (p.Asp1344Gly)
n.612-19362T>C
c.3677A>G (p.Asp1226Gly)
c.3320A>G (p.Asp1107Gly)
 gnomAD v4
2g.166228833T>GCA349063840SCN1A-AS1,SCN9Ac.4064A>C (p.Asp1355Ala)
c.3908A>C (p.Asp1303Ala)
c.4031A>C (p.Asp1344Ala)
n.612-19362T>G
c.3677A>C (p.Asp1226Ala)
c.3320A>C (p.Asp1107Ala)
2g.166228834C>ACA349063845SCN1A-AS1,SCN9Ac.4063G>T (p.Asp1355Tyr)
c.3907G>T (p.Asp1303Tyr)
c.4030G>T (p.Asp1344Tyr)
n.612-19361C>A
c.3676G>T (p.Asp1226Tyr)
c.3319G>T (p.Asp1107Tyr)
2g.166228834C=CA1304943667SCN1A-AS1,SCN9Ac.4063G= (p.Asp1355=)
c.3907G= (p.Asp1303=)
c.4030G= (p.Asp1344=)
n.612-19361C=
c.3676G= (p.Asp1226=)
c.3319G= (p.Asp1107=)
2g.166228834C>GCA349063846SCN1A-AS1,SCN9Ac.4063G>C (p.Asp1355His)
c.3907G>C (p.Asp1303His)
c.4030G>C (p.Asp1344His)
n.612-19361C>G
c.3676G>C (p.Asp1226His)
c.3319G>C (p.Asp1107His)
 dbSNP gnomAD v3 gnomAD v4
2g.166228834C>TCA349063849SCN1A-AS1,SCN9Ac.4063G>A (p.Asp1355Asn)
c.3907G>A (p.Asp1303Asn)
c.4030G>A (p.Asp1344Asn)
n.612-19361C>T
c.3676G>A (p.Asp1226Asn)
c.3319G>A (p.Asp1107Asn)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.166228835T>ACA429899237SCN1A-AS1,SCN9Ac.4062A>T (p.Thr1354=)
c.3906A>T (p.Thr1302=)
c.4029A>T (p.Thr1343=)
n.612-19360T>A
c.3675A>T (p.Thr1225=)
c.3318A>T (p.Thr1106=)
2g.166228835T>CCA1943958SCN1A-AS1,SCN9Ac.4062A>G (p.Thr1354=)
c.3906A>G (p.Thr1302=)
c.4029A>G (p.Thr1343=)
n.612-19360T>C
c.3675A>G (p.Thr1225=)
c.3318A>G (p.Thr1106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228835T>GCA429899238SCN1A-AS1,SCN9Ac.4062A>C (p.Thr1354=)
c.3906A>C (p.Thr1302=)
c.4029A>C (p.Thr1343=)
n.612-19360T>G
c.3675A>C (p.Thr1225=)
c.3318A>C (p.Thr1106=)
2g.166228835T=CA1304943668SCN1A-AS1,SCN9Ac.4062A= (p.Thr1354=)
c.3906A= (p.Thr1302=)
c.4029A= (p.Thr1343=)
n.612-19360T=
c.3675A= (p.Thr1225=)
c.3318A= (p.Thr1106=)
2g.166228837_166228838delCA2577144848SCN1A-AS1,SCN9Ac.4061_4062del (p.Thr1354ArgfsTer23)
c.3905_3906del (p.Thr1302ArgfsTer23)
c.4028_4029del (p.Thr1343ArgfsTer23)
n.612-19358_612-19357del
c.3674_3675del (p.Thr1225ArgfsTer23)
c.3317_3318del (p.Thr1106ArgfsTer23)
2g.166228836G>ACA59810303SCN1A-AS1,SCN9Ac.4061C>T (p.Thr1354Ile)
c.3905C>T (p.Thr1302Ile)
c.4028C>T (p.Thr1343Ile)
n.612-19359G>A
c.3674C>T (p.Thr1225Ile)
c.3317C>T (p.Thr1106Ile)
 dbSNP gnomAD v4
2g.166228836G>CCA349063854SCN1A-AS1,SCN9Ac.4061C>G (p.Thr1354Arg)
c.3905C>G (p.Thr1302Arg)
c.4028C>G (p.Thr1343Arg)
n.612-19359G>C
c.3674C>G (p.Thr1225Arg)
c.3317C>G (p.Thr1106Arg)
2g.166228836G=CA1304943669SCN1A-AS1,SCN9Ac.4061C= (p.Thr1354=)
c.3905C= (p.Thr1302=)
c.4028C= (p.Thr1343=)
n.612-19359G=
c.3674C= (p.Thr1225=)
c.3317C= (p.Thr1106=)
2g.166228836G>TCA349063857SCN1A-AS1,SCN9Ac.4061C>A (p.Thr1354Lys)
c.3905C>A (p.Thr1302Lys)
c.4028C>A (p.Thr1343Lys)
n.612-19359G>T
c.3674C>A (p.Thr1225Lys)
c.3317C>A (p.Thr1106Lys)
 COSMIC
2g.166228837T>ACA349063860SCN1A-AS1,SCN9Ac.4060A>T (p.Thr1354Ser)
c.3904A>T (p.Thr1302Ser)
c.4027A>T (p.Thr1343Ser)
n.612-19358T>A
c.3673A>T (p.Thr1225Ser)
c.3316A>T (p.Thr1106Ser)
2g.166228837T>CCA349063862SCN1A-AS1,SCN9Ac.4060A>G (p.Thr1354Ala)
c.3904A>G (p.Thr1302Ala)
c.4027A>G (p.Thr1343Ala)
n.612-19358T>C
c.3673A>G (p.Thr1225Ala)
c.3316A>G (p.Thr1106Ala)
2g.166228837T>GCA349063864SCN1A-AS1,SCN9Ac.4060A>C (p.Thr1354Pro)
c.3904A>C (p.Thr1302Pro)
c.4027A>C (p.Thr1343Pro)
n.612-19358T>G
c.3673A>C (p.Thr1225Pro)
c.3316A>C (p.Thr1106Pro)
2g.166228838G>ACA59810307SCN1A-AS1,SCN9Ac.4059C>T (p.Thr1353=)
c.3903C>T (p.Thr1301=)
c.4026C>T (p.Thr1342=)
n.612-19357G>A
c.3672C>T (p.Thr1224=)
c.3315C>T (p.Thr1105=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228838G>CCA429899240SCN1A-AS1,SCN9Ac.4059C>G (p.Thr1353=)
c.3903C>G (p.Thr1301=)
c.4026C>G (p.Thr1342=)
n.612-19357G>C
c.3672C>G (p.Thr1224=)
c.3315C>G (p.Thr1105=)
2g.166228838G=CA1304943670SCN1A-AS1,SCN9Ac.4059C= (p.Thr1353=)
c.3903C= (p.Thr1301=)
c.4026C= (p.Thr1342=)
n.612-19357G=
c.3672C= (p.Thr1224=)
c.3315C= (p.Thr1105=)
2g.166228838G>TCA429899241SCN1A-AS1,SCN9Ac.4059C>A (p.Thr1353=)
c.3903C>A (p.Thr1301=)
c.4026C>A (p.Thr1342=)
n.612-19357G>T
c.3672C>A (p.Thr1224=)
c.3315C>A (p.Thr1105=)
2g.166228839G>ACA349063869SCN1A-AS1,SCN9Ac.4058C>T (p.Thr1353Ile)
c.3902C>T (p.Thr1301Ile)
c.4025C>T (p.Thr1342Ile)
n.612-19356G>A
c.3671C>T (p.Thr1224Ile)
c.3314C>T (p.Thr1105Ile)
2g.166228839G>CCA349063872SCN1A-AS1,SCN9Ac.4058C>G (p.Thr1353Ser)
c.3902C>G (p.Thr1301Ser)
c.4025C>G (p.Thr1342Ser)
n.612-19356G>C
c.3671C>G (p.Thr1224Ser)
c.3314C>G (p.Thr1105Ser)
2g.166228839G>TCA349063871SCN1A-AS1,SCN9Ac.4058C>A (p.Thr1353Asn)
c.3902C>A (p.Thr1301Asn)
c.4025C>A (p.Thr1342Asn)
n.612-19356G>T
c.3671C>A (p.Thr1224Asn)
c.3314C>A (p.Thr1105Asn)
 gnomAD v4
2g.166228840T>ACA349063873SCN1A-AS1,SCN9Ac.4057A>T (p.Thr1353Ser)
c.3901A>T (p.Thr1301Ser)
c.4024A>T (p.Thr1342Ser)
n.612-19355T>A
c.3670A>T (p.Thr1224Ser)
c.3313A>T (p.Thr1105Ser)
2g.166228840T>CCA349063875SCN1A-AS1,SCN9Ac.4057A>G (p.Thr1353Ala)
c.3901A>G (p.Thr1301Ala)
c.4024A>G (p.Thr1342Ala)
n.612-19355T>C
c.3670A>G (p.Thr1224Ala)
c.3313A>G (p.Thr1105Ala)
 COSMIC
2g.166228840T>GCA349063877SCN1A-AS1,SCN9Ac.4057A>C (p.Thr1353Pro)
c.3901A>C (p.Thr1301Pro)
c.4024A>C (p.Thr1342Pro)
n.612-19355T>G
c.3670A>C (p.Thr1224Pro)
c.3313A>C (p.Thr1105Pro)
2g.166228841G>ACA1943959SCN1A-AS1,SCN9Ac.4056C>T (p.Asn1352=)
c.3900C>T (p.Asn1300=)
c.4023C>T (p.Asn1341=)
n.612-19354G>A
c.3669C>T (p.Asn1223=)
c.3312C>T (p.Asn1104=)
 ClinVar dbSNP ExAC gnomAD v2
2g.166228841G>CCA349063887SCN1A-AS1,SCN9Ac.4056C>G (p.Asn1352Lys)
c.3900C>G (p.Asn1300Lys)
c.4023C>G (p.Asn1341Lys)
n.612-19354G>C
c.3669C>G (p.Asn1223Lys)
c.3312C>G (p.Asn1104Lys)
2g.166228841G=CA1304943671SCN1A-AS1,SCN9Ac.4056C= (p.Asn1352=)
c.3900C= (p.Asn1300=)
c.4023C= (p.Asn1341=)
n.612-19354G=
c.3669C= (p.Asn1223=)
c.3312C= (p.Asn1104=)
2g.166228841G>TCA349063894SCN1A-AS1,SCN9Ac.4056C>A (p.Asn1352Lys)
c.3900C>A (p.Asn1300Lys)
c.4023C>A (p.Asn1341Lys)
n.612-19354G>T
c.3669C>A (p.Asn1223Lys)
c.3312C>A (p.Asn1104Lys)
2g.166228842T>ACA349063906SCN1A-AS1,SCN9Ac.4055A>T (p.Asn1352Ile)
c.3899A>T (p.Asn1300Ile)
c.4022A>T (p.Asn1341Ile)
n.612-19353T>A
c.3668A>T (p.Asn1223Ile)
c.3311A>T (p.Asn1104Ile)
2g.166228842T>CCA349063909SCN1A-AS1,SCN9Ac.4055A>G (p.Asn1352Ser)
c.3899A>G (p.Asn1300Ser)
c.4022A>G (p.Asn1341Ser)
n.612-19353T>C
c.3668A>G (p.Asn1223Ser)
c.3311A>G (p.Asn1104Ser)
2g.166228842T>GCA349063911SCN1A-AS1,SCN9Ac.4055A>C (p.Asn1352Thr)
c.3899A>C (p.Asn1300Thr)
c.4022A>C (p.Asn1341Thr)
n.612-19353T>G
c.3668A>C (p.Asn1223Thr)
c.3311A>C (p.Asn1104Thr)
 ClinVar dbSNP
2g.166228842T=CA1304943672SCN1A-AS1,SCN9Ac.4055A= (p.Asn1352=)
c.3899A= (p.Asn1300=)
c.4022A= (p.Asn1341=)
n.612-19353T=
c.3668A= (p.Asn1223=)
c.3311A= (p.Asn1104=)
2g.166228843T>ACA349063919SCN1A-AS1,SCN9Ac.4054A>T (p.Asn1352Tyr)
c.3898A>T (p.Asn1300Tyr)
c.4021A>T (p.Asn1341Tyr)
n.612-19352T>A
c.3667A>T (p.Asn1223Tyr)
c.3310A>T (p.Asn1104Tyr)
 COSMIC COSMIC
2g.166228843T>CCA349063922SCN1A-AS1,SCN9Ac.4054A>G (p.Asn1352Asp)
c.3898A>G (p.Asn1300Asp)
c.4021A>G (p.Asn1341Asp)
n.612-19352T>C
c.3667A>G (p.Asn1223Asp)
c.3310A>G (p.Asn1104Asp)
 ClinVar dbSNP gnomAD v4
2g.166228843T>GCA349063915SCN1A-AS1,SCN9Ac.4054A>C (p.Asn1352His)
c.3898A>C (p.Asn1300His)
c.4021A>C (p.Asn1341His)
n.612-19352T>G
c.3667A>C (p.Asn1223His)
c.3310A>C (p.Asn1104His)
2g.166228843T=CA1304943673SCN1A-AS1,SCN9Ac.4054A= (p.Asn1352=)
c.3898A= (p.Asn1300=)
c.4021A= (p.Asn1341=)
n.612-19352T=
c.3667A= (p.Asn1223=)
c.3310A= (p.Asn1104=)
2g.166228844A>CCA349063926SCN1A-AS1,SCN9Ac.4053T>G (p.Ile1351Met)
c.3897T>G (p.Ile1299Met)
c.4020T>G (p.Ile1340Met)
n.612-19351A>C
c.3666T>G (p.Ile1222Met)
c.3309T>G (p.Ile1103Met)
 gnomAD v4
2g.166228844A>GCA429899245SCN1A-AS1,SCN9Ac.4053T>C (p.Ile1351=)
c.3897T>C (p.Ile1299=)
c.4020T>C (p.Ile1340=)
n.612-19351A>G
c.3666T>C (p.Ile1222=)
c.3309T>C (p.Ile1103=)
2g.166228844A>TCA429899246SCN1A-AS1,SCN9Ac.4053T>A (p.Ile1351=)
c.3897T>A (p.Ile1299=)
c.4020T>A (p.Ile1340=)
n.612-19351A>T
c.3666T>A (p.Ile1222=)
c.3309T>A (p.Ile1103=)
2g.166228845A>CCA349063928SCN1A-AS1,SCN9Ac.4052T>G (p.Ile1351Ser)
c.3896T>G (p.Ile1299Ser)
c.4019T>G (p.Ile1340Ser)
n.612-19350A>C
c.3665T>G (p.Ile1222Ser)
c.3308T>G (p.Ile1103Ser)
2g.166228845A>GCA349063931SCN1A-AS1,SCN9Ac.4052T>C (p.Ile1351Thr)
c.3896T>C (p.Ile1299Thr)
c.4019T>C (p.Ile1340Thr)
n.612-19350A>G
c.3665T>C (p.Ile1222Thr)
c.3308T>C (p.Ile1103Thr)
 gnomAD v4
2g.166228845A>TCA349063934SCN1A-AS1,SCN9Ac.4052T>A (p.Ile1351Asn)
c.3896T>A (p.Ile1299Asn)
c.4019T>A (p.Ile1340Asn)
n.612-19350A>T
c.3665T>A (p.Ile1222Asn)
c.3308T>A (p.Ile1103Asn)
2g.166228846T>ACA349063943SCN1A-AS1,SCN9Ac.4051A>T (p.Ile1351Phe)
c.3895A>T (p.Ile1299Phe)
c.4018A>T (p.Ile1340Phe)
n.612-19349T>A
c.3664A>T (p.Ile1222Phe)
c.3307A>T (p.Ile1103Phe)
2g.166228846T>CCA349063940SCN1A-AS1,SCN9Ac.4051A>G (p.Ile1351Val)
c.3895A>G (p.Ile1299Val)
c.4018A>G (p.Ile1340Val)
n.612-19349T>C
c.3664A>G (p.Ile1222Val)
c.3307A>G (p.Ile1103Val)
2g.166228846T>GCA349063938SCN1A-AS1,SCN9Ac.4051A>C (p.Ile1351Leu)
c.3895A>C (p.Ile1299Leu)
c.4018A>C (p.Ile1340Leu)
n.612-19349T>G
c.3664A>C (p.Ile1222Leu)
c.3307A>C (p.Ile1103Leu)
2g.166228847A=CA1304943674SCN1A-AS1,SCN9Ac.4050T= (p.Cys1350=)
c.3894T= (p.Cys1298=)
c.4017T= (p.Cys1339=)
n.612-19348A=
c.3663T= (p.Cys1221=)
c.3306T= (p.Cys1102=)
2g.166228847A>CCA349063951SCN1A-AS1,SCN9Ac.4050T>G (p.Cys1350Trp)
c.3894T>G (p.Cys1298Trp)
c.4017T>G (p.Cys1339Trp)
n.612-19348A>C
c.3663T>G (p.Cys1221Trp)
c.3306T>G (p.Cys1102Trp)
2g.166228847A>GCA1943960SCN1A-AS1,SCN9Ac.4050T>C (p.Cys1350=)
c.3894T>C (p.Cys1298=)
c.4017T>C (p.Cys1339=)
n.612-19348A>G
c.3663T>C (p.Cys1221=)
c.3306T>C (p.Cys1102=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166228847A>TCA349063957SCN1A-AS1,SCN9Ac.4050T>A (p.Cys1350Ter)
c.3894T>A (p.Cys1298Ter)
c.4017T>A (p.Cys1339Ter)
n.612-19348A>T
c.3663T>A (p.Cys1221Ter)
c.3306T>A (p.Cys1102Ter)
 dbSNP
2g.166228848C>ACA349063960SCN1A-AS1,SCN9Ac.4049G>T (p.Cys1350Phe)
c.3893G>T (p.Cys1298Phe)
c.4016G>T (p.Cys1339Phe)
n.612-19347C>A
c.3662G>T (p.Cys1221Phe)
c.3305G>T (p.Cys1102Phe)
2g.166228848C>GCA349063969SCN1A-AS1,SCN9Ac.4049G>C (p.Cys1350Ser)
c.3893G>C (p.Cys1298Ser)
c.4016G>C (p.Cys1339Ser)
n.612-19347C>G
c.3662G>C (p.Cys1221Ser)
c.3305G>C (p.Cys1102Ser)
2g.166228848C>TCA349063972SCN1A-AS1,SCN9Ac.4049G>A (p.Cys1350Tyr)
c.3893G>A (p.Cys1298Tyr)
c.4016G>A (p.Cys1339Tyr)
n.612-19347C>T
c.3662G>A (p.Cys1221Tyr)
c.3305G>A (p.Cys1102Tyr)
2g.166228849A=CA1304943675SCN1A-AS1,SCN9Ac.4048T= (p.Cys1350=)
c.3892T= (p.Cys1298=)
c.4015T= (p.Cys1339=)
n.612-19346A=
c.3661T= (p.Cys1221=)
c.3304T= (p.Cys1102=)
2g.166228849A>CCA349063976SCN1A-AS1,SCN9Ac.4048T>G (p.Cys1350Gly)
c.3892T>G (p.Cys1298Gly)
c.4015T>G (p.Cys1339Gly)
n.612-19346A>C
c.3661T>G (p.Cys1221Gly)
c.3304T>G (p.Cys1102Gly)
 gnomAD v4
2g.166228849A>GCA349063982SCN1A-AS1,SCN9Ac.4048T>C (p.Cys1350Arg)
c.3892T>C (p.Cys1298Arg)
c.4015T>C (p.Cys1339Arg)
n.612-19346A>G
c.3661T>C (p.Cys1221Arg)
c.3304T>C (p.Cys1102Arg)
 ClinVar dbSNP
2g.166228849A>TCA349063979SCN1A-AS1,SCN9Ac.4048T>A (p.Cys1350Ser)
c.3892T>A (p.Cys1298Ser)
c.4015T>A (p.Cys1339Ser)
n.612-19346A>T
c.3661T>A (p.Cys1221Ser)
c.3304T>A (p.Cys1102Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.166228850C>ACA349063985SCN1A-AS1,SCN9Ac.4047G>T (p.Glu1349Asp)
c.3891G>T (p.Glu1297Asp)
c.4014G>T (p.Glu1338Asp)
n.612-19345C>A
c.3660G>T (p.Glu1220Asp)
c.3303G>T (p.Glu1101Asp)
2g.166228850C=CA1304943676SCN1A-AS1,SCN9Ac.4047G= (p.Glu1349=)
c.3891G= (p.Glu1297=)
c.4014G= (p.Glu1338=)
n.612-19345C=
c.3660G= (p.Glu1220=)
c.3303G= (p.Glu1101=)
2g.166228850C>GCA349063987SCN1A-AS1,SCN9Ac.4047G>C (p.Glu1349Asp)
c.3891G>C (p.Glu1297Asp)
c.4014G>C (p.Glu1338Asp)
n.612-19345C>G
c.3660G>C (p.Glu1220Asp)
c.3303G>C (p.Glu1101Asp)
2g.166228850C>TCA59810314SCN1A-AS1,SCN9Ac.4047G>A (p.Glu1349=)
c.3891G>A (p.Glu1297=)
c.4014G>A (p.Glu1338=)
n.612-19345C>T
c.3660G>A (p.Glu1220=)
c.3303G>A (p.Glu1101=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228851T>ACA349063995SCN1A-AS1,SCN9Ac.4046A>T (p.Glu1349Val)
c.3890A>T (p.Glu1297Val)
c.4013A>T (p.Glu1338Val)
n.612-19344T>A
c.3659A>T (p.Glu1220Val)
c.3302A>T (p.Glu1101Val)
 ClinVar dbSNP gnomAD v4
2g.166228851T>CCA349063997SCN1A-AS1,SCN9Ac.4046A>G (p.Glu1349Gly)
c.3890A>G (p.Glu1297Gly)
c.4013A>G (p.Glu1338Gly)
n.612-19344T>C
c.3659A>G (p.Glu1220Gly)
c.3302A>G (p.Glu1101Gly)
2g.166228851T>GCA349064001SCN1A-AS1,SCN9Ac.4046A>C (p.Glu1349Ala)
c.3890A>C (p.Glu1297Ala)
c.4013A>C (p.Glu1338Ala)
n.612-19344T>G
c.3659A>C (p.Glu1220Ala)
c.3302A>C (p.Glu1101Ala)
2g.166228851T=CA1304943677SCN1A-AS1,SCN9Ac.4046A= (p.Glu1349=)
c.3890A= (p.Glu1297=)
c.4013A= (p.Glu1338=)
n.612-19344T=
c.3659A= (p.Glu1220=)
c.3302A= (p.Glu1101=)
2g.166228852C>ACA349064002SCN1A-AS1,SCN9Ac.4045G>T (p.Glu1349Ter)
c.3889G>T (p.Glu1297Ter)
c.4012G>T (p.Glu1338Ter)
n.612-19343C>A
c.3658G>T (p.Glu1220Ter)
c.3301G>T (p.Glu1101Ter)
 dbSNP
2g.166228852C=CA1304943678SCN1A-AS1,SCN9Ac.4045G= (p.Glu1349=)
c.3889G= (p.Glu1297=)
c.4012G= (p.Glu1338=)
n.612-19343C=
c.3658G= (p.Glu1220=)
c.3301G= (p.Glu1101=)
2g.166228852C>GCA349064008SCN1A-AS1,SCN9Ac.4045G>C (p.Glu1349Gln)
c.3889G>C (p.Glu1297Gln)
c.4012G>C (p.Glu1338Gln)
n.612-19343C>G
c.3658G>C (p.Glu1220Gln)
c.3301G>C (p.Glu1101Gln)
2g.166228852C>TCA349064010SCN1A-AS1,SCN9Ac.4045G>A (p.Glu1349Lys)
c.3889G>A (p.Glu1297Lys)
c.4012G>A (p.Glu1338Lys)
n.612-19343C>T
c.3658G>A (p.Glu1220Lys)
c.3301G>A (p.Glu1101Lys)
 dbSNP
2g.166228853A>CCA349064011SCN1A-AS1,SCN9Ac.4044T>G (p.Tyr1348Ter)
c.3888T>G (p.Tyr1296Ter)
c.4011T>G (p.Tyr1337Ter)
n.612-19342A>C
c.3657T>G (p.Tyr1219Ter)
c.3300T>G (p.Tyr1100Ter)
2g.166228853A>GCA429899254SCN1A-AS1,SCN9Ac.4044T>C (p.Tyr1348=)
c.3888T>C (p.Tyr1296=)
c.4011T>C (p.Tyr1337=)
n.612-19342A>G
c.3657T>C (p.Tyr1219=)
c.3300T>C (p.Tyr1100=)
 gnomAD v4
2g.166228853A>TCA349064018SCN1A-AS1,SCN9Ac.4044T>A (p.Tyr1348Ter)
c.3888T>A (p.Tyr1296Ter)
c.4011T>A (p.Tyr1337Ter)
n.612-19342A>T
c.3657T>A (p.Tyr1219Ter)
c.3300T>A (p.Tyr1100Ter)
2g.166228854T>ACA349064024SCN1A-AS1,SCN9Ac.4043A>T (p.Tyr1348Phe)
c.3887A>T (p.Tyr1296Phe)
c.4010A>T (p.Tyr1337Phe)
n.612-19341T>A
c.3656A>T (p.Tyr1219Phe)
c.3299A>T (p.Tyr1100Phe)
 gnomAD v4
2g.166228854T>CCA231503SCN1A-AS1,SCN9Ac.4043A>G (p.Tyr1348Cys)
c.3887A>G (p.Tyr1296Cys)
c.4010A>G (p.Tyr1337Cys)
n.612-19341T>C
c.3656A>G (p.Tyr1219Cys)
c.3299A>G (p.Tyr1100Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228854T>GCA349064019SCN1A-AS1,SCN9Ac.4043A>C (p.Tyr1348Ser)
c.3887A>C (p.Tyr1296Ser)
c.4010A>C (p.Tyr1337Ser)
n.612-19341T>G
c.3656A>C (p.Tyr1219Ser)
c.3299A>C (p.Tyr1100Ser)
2g.166228854T=CA1304943679SCN1A-AS1,SCN9Ac.4043A= (p.Tyr1348=)
c.3887A= (p.Tyr1296=)
c.4010A= (p.Tyr1337=)
n.612-19341T=
c.3656A= (p.Tyr1219=)
c.3299A= (p.Tyr1100=)
2g.166228855A>CCA349064031SCN1A-AS1,SCN9Ac.4042T>G (p.Tyr1348Asp)
c.3886T>G (p.Tyr1296Asp)
c.4009T>G (p.Tyr1337Asp)
n.612-19340A>C
c.3655T>G (p.Tyr1219Asp)
c.3298T>G (p.Tyr1100Asp)
2g.166228855A>GCA349064035SCN1A-AS1,SCN9Ac.4042T>C (p.Tyr1348His)
c.3886T>C (p.Tyr1296His)
c.4009T>C (p.Tyr1337His)
n.612-19340A>G
c.3655T>C (p.Tyr1219His)
c.3298T>C (p.Tyr1100His)
2g.166228855A>TCA349064039SCN1A-AS1,SCN9Ac.4042T>A (p.Tyr1348Asn)
c.3886T>A (p.Tyr1296Asn)
c.4009T>A (p.Tyr1337Asn)
n.612-19340A>T
c.3655T>A (p.Tyr1219Asn)
c.3298T>A (p.Tyr1100Asn)
2g.166228856G>ACA429899256SCN1A-AS1,SCN9Ac.4041C>T (p.Phe1347=)
c.3885C>T (p.Phe1295=)
c.4008C>T (p.Phe1336=)
n.612-19339G>A
c.3654C>T (p.Phe1218=)
c.3297C>T (p.Phe1099=)
 dbSNP gnomAD v2
2g.166228856G>CCA349064045SCN1A-AS1,SCN9Ac.4041C>G (p.Phe1347Leu)
c.3885C>G (p.Phe1295Leu)
c.4008C>G (p.Phe1336Leu)
n.612-19339G>C
c.3654C>G (p.Phe1218Leu)
c.3297C>G (p.Phe1099Leu)
2g.166228856G=CA1304943680SCN1A-AS1,SCN9Ac.4041C= (p.Phe1347=)
c.3885C= (p.Phe1295=)
c.4008C= (p.Phe1336=)
n.612-19339G=
c.3654C= (p.Phe1218=)
c.3297C= (p.Phe1099=)
2g.166228856G>TCA349064053SCN1A-AS1,SCN9Ac.4041C>A (p.Phe1347Leu)
c.3885C>A (p.Phe1295Leu)
c.4008C>A (p.Phe1336Leu)
n.612-19339G>T
c.3654C>A (p.Phe1218Leu)
c.3297C>A (p.Phe1099Leu)
2g.166228857A=CA1304943681SCN1A-AS1,SCN9Ac.4040T= (p.Phe1347=)
c.3884T= (p.Phe1295=)
c.4007T= (p.Phe1336=)
n.612-19338A=
c.3653T= (p.Phe1218=)
c.3296T= (p.Phe1099=)
2g.166228857A>CCA349064060SCN1A-AS1,SCN9Ac.4040T>G (p.Phe1347Cys)
c.3884T>G (p.Phe1295Cys)
c.4007T>G (p.Phe1336Cys)
n.612-19338A>C
c.3653T>G (p.Phe1218Cys)
c.3296T>G (p.Phe1099Cys)
2g.166228857A>GCA349064057SCN1A-AS1,SCN9Ac.4040T>C (p.Phe1347Ser)
c.3884T>C (p.Phe1295Ser)
c.4007T>C (p.Phe1336Ser)
n.612-19338A>G
c.3653T>C (p.Phe1218Ser)
c.3296T>C (p.Phe1099Ser)
 ClinVar dbSNP
2g.166228857A>TCA349064058SCN1A-AS1,SCN9Ac.4040T>A (p.Phe1347Tyr)
c.3884T>A (p.Phe1295Tyr)
c.4007T>A (p.Phe1336Tyr)
n.612-19338A>T
c.3653T>A (p.Phe1218Tyr)
c.3296T>A (p.Phe1099Tyr)
2g.166228858A>CCA349064061SCN1A-AS1,SCN9Ac.4039T>G (p.Phe1347Val)
c.3883T>G (p.Phe1295Val)
c.4006T>G (p.Phe1336Val)
n.612-19337A>C
c.3652T>G (p.Phe1218Val)
c.3295T>G (p.Phe1099Val)
2g.166228858A>GCA349064063SCN1A-AS1,SCN9Ac.4039T>C (p.Phe1347Leu)
c.3883T>C (p.Phe1295Leu)
c.4006T>C (p.Phe1336Leu)
n.612-19337A>G
c.3652T>C (p.Phe1218Leu)
c.3295T>C (p.Phe1099Leu)
2g.166228858A>TCA349064065SCN1A-AS1,SCN9Ac.4039T>A (p.Phe1347Ile)
c.3883T>A (p.Phe1295Ile)
c.4006T>A (p.Phe1336Ile)
n.612-19337A>T
c.3652T>A (p.Phe1218Ile)
c.3295T>A (p.Phe1099Ile)
2g.166228859C>ACA349064068SCN1A-AS1,SCN9Ac.4038G>T (p.Lys1346Asn)
c.3882G>T (p.Lys1294Asn)
c.4005G>T (p.Lys1335Asn)
n.612-19336C>A
c.3651G>T (p.Lys1217Asn)
c.3294G>T (p.Lys1098Asn)
2g.166228859C=CA1304943682SCN1A-AS1,SCN9Ac.4038G= (p.Lys1346=)
c.3882G= (p.Lys1294=)
c.4005G= (p.Lys1335=)
n.612-19336C=
c.3651G= (p.Lys1217=)
c.3294G= (p.Lys1098=)
2g.166228859C>GCA349064071SCN1A-AS1,SCN9Ac.4038G>C (p.Lys1346Asn)
c.3882G>C (p.Lys1294Asn)
c.4005G>C (p.Lys1335Asn)
n.612-19336C>G
c.3651G>C (p.Lys1217Asn)
c.3294G>C (p.Lys1098Asn)
2g.166228859C>TCA429899260SCN1A-AS1,SCN9Ac.4038G>A (p.Lys1346=)
c.3882G>A (p.Lys1294=)
c.4005G>A (p.Lys1335=)
n.612-19336C>T
c.3651G>A (p.Lys1217=)
c.3294G>A (p.Lys1098=)
 dbSNP
2g.166228860T>ACA349064085SCN1A-AS1,SCN9Ac.4037A>T (p.Lys1346Met)
c.3881A>T (p.Lys1294Met)
c.4004A>T (p.Lys1335Met)
n.612-19335T>A
c.3650A>T (p.Lys1217Met)
c.3293A>T (p.Lys1098Met)
2g.166228860T>CCA349064077SCN1A-AS1,SCN9Ac.4037A>G (p.Lys1346Arg)
c.3881A>G (p.Lys1294Arg)
c.4004A>G (p.Lys1335Arg)
n.612-19335T>C
c.3650A>G (p.Lys1217Arg)
c.3293A>G (p.Lys1098Arg)
 ClinVar dbSNP
2g.166228860T>GCA349064080SCN1A-AS1,SCN9Ac.4037A>C (p.Lys1346Thr)
c.3881A>C (p.Lys1294Thr)
c.4004A>C (p.Lys1335Thr)
n.612-19335T>G
c.3650A>C (p.Lys1217Thr)
c.3293A>C (p.Lys1098Thr)
2g.166228861T>ACA349064087SCN1A-AS1,SCN9Ac.4036A>T (p.Lys1346Ter)
c.3880A>T (p.Lys1294Ter)
c.4003A>T (p.Lys1335Ter)
n.612-19334T>A
c.3649A>T (p.Lys1217Ter)
c.3292A>T (p.Lys1098Ter)
 dbSNP
2g.166228861T>CCA349064089SCN1A-AS1,SCN9Ac.4036A>G (p.Lys1346Glu)
c.3880A>G (p.Lys1294Glu)
c.4003A>G (p.Lys1335Glu)
n.612-19334T>C
c.3649A>G (p.Lys1217Glu)
c.3292A>G (p.Lys1098Glu)
2g.166228861T>GCA349064095SCN1A-AS1,SCN9Ac.4036A>C (p.Lys1346Gln)
c.3880A>C (p.Lys1294Gln)
c.4003A>C (p.Lys1335Gln)
n.612-19334T>G
c.3649A>C (p.Lys1217Gln)
c.3292A>C (p.Lys1098Gln)
2g.166228861T=CA1304943683SCN1A-AS1,SCN9Ac.4036A= (p.Lys1346=)
c.3880A= (p.Lys1294=)
c.4003A= (p.Lys1335=)
n.612-19334T=
c.3649A= (p.Lys1217=)
c.3292A= (p.Lys1098=)
2g.166228862G>ACA429899261SCN1A-AS1,SCN9Ac.4035C>T (p.Gly1345=)
c.3879C>T (p.Gly1293=)
c.4002C>T (p.Gly1334=)
n.612-19333G>A
c.3648C>T (p.Gly1216=)
c.3291C>T (p.Gly1097=)
 gnomAD v4
2g.166228862G>CCA429899262SCN1A-AS1,SCN9Ac.4035C>G (p.Gly1345=)
c.3879C>G (p.Gly1293=)
c.4002C>G (p.Gly1334=)
n.612-19333G>C
c.3648C>G (p.Gly1216=)
c.3291C>G (p.Gly1097=)
2g.166228862G=CA1304943684SCN1A-AS1,SCN9Ac.4035C= (p.Gly1345=)
c.3879C= (p.Gly1293=)
c.4002C= (p.Gly1334=)
n.612-19333G=
c.3648C= (p.Gly1216=)
c.3291C= (p.Gly1097=)
2g.166228862G>TCA59810319SCN1A-AS1,SCN9Ac.4035C>A (p.Gly1345=)
c.3879C>A (p.Gly1293=)
c.4002C>A (p.Gly1334=)
n.612-19333G>T
c.3648C>A (p.Gly1216=)
c.3291C>A (p.Gly1097=)
 ClinVar dbSNP gnomAD v4
2g.166228863C>ACA349064100SCN1A-AS1,SCN9Ac.4034G>T (p.Gly1345Val)
c.3878G>T (p.Gly1293Val)
c.4001G>T (p.Gly1334Val)
n.612-19332C>A
c.3647G>T (p.Gly1216Val)
c.3290G>T (p.Gly1097Val)
2g.166228863C=CA1304943685SCN1A-AS1,SCN9Ac.4034G= (p.Gly1345=)
c.3878G= (p.Gly1293=)
c.4001G= (p.Gly1334=)
n.612-19332C=
c.3647G= (p.Gly1216=)
c.3290G= (p.Gly1097=)
2g.166228863C>GCA349064104SCN1A-AS1,SCN9Ac.4034G>C (p.Gly1345Ala)
c.3878G>C (p.Gly1293Ala)
c.4001G>C (p.Gly1334Ala)
n.612-19332C>G
c.3647G>C (p.Gly1216Ala)
c.3290G>C (p.Gly1097Ala)
2g.166228863C>TCA59810321SCN1A-AS1,SCN9Ac.4034G>A (p.Gly1345Asp)
c.3878G>A (p.Gly1293Asp)
c.4001G>A (p.Gly1334Asp)
n.612-19332C>T
c.3647G>A (p.Gly1216Asp)
c.3290G>A (p.Gly1097Asp)
 dbSNP gnomAD v4
2g.166228864C>ACA349064118SCN1A-AS1,SCN9Ac.4033G>T (p.Gly1345Cys)
c.3877G>T (p.Gly1293Cys)
c.4000G>T (p.Gly1334Cys)
n.612-19331C>A
c.3646G>T (p.Gly1216Cys)
c.3289G>T (p.Gly1097Cys)
2g.166228864C>GCA349064121SCN1A-AS1,SCN9Ac.4033G>C (p.Gly1345Arg)
c.3877G>C (p.Gly1293Arg)
c.4000G>C (p.Gly1334Arg)
n.612-19331C>G
c.3646G>C (p.Gly1216Arg)
c.3289G>C (p.Gly1097Arg)
2g.166228864C>TCA349064125SCN1A-AS1,SCN9Ac.4033G>A (p.Gly1345Ser)
c.3877G>A (p.Gly1293Ser)
c.4000G>A (p.Gly1334Ser)
n.612-19331C>T
c.3646G>A (p.Gly1216Ser)
c.3289G>A (p.Gly1097Ser)
2g.166228865A>CCA429899265SCN1A-AS1,SCN9Ac.4032T>G (p.Ala1344=)
c.3876T>G (p.Ala1292=)
c.3999T>G (p.Ala1333=)
n.612-19330A>C
c.3645T>G (p.Ala1215=)
c.3288T>G (p.Ala1096=)
2g.166228865A>GCA429899266SCN1A-AS1,SCN9Ac.4032T>C (p.Ala1344=)
c.3876T>C (p.Ala1292=)
c.3999T>C (p.Ala1333=)
n.612-19330A>G
c.3645T>C (p.Ala1215=)
c.3288T>C (p.Ala1096=)
2g.166228865A>TCA429899267SCN1A-AS1,SCN9Ac.4032T>A (p.Ala1344=)
c.3876T>A (p.Ala1292=)
c.3999T>A (p.Ala1333=)
n.612-19330A>T
c.3645T>A (p.Ala1215=)
c.3288T>A (p.Ala1096=)
2g.166228866G>ACA349064128SCN1A-AS1,SCN9Ac.4031C>T (p.Ala1344Val)
c.3875C>T (p.Ala1292Val)
c.3998C>T (p.Ala1333Val)
n.612-19329G>A
c.3644C>T (p.Ala1215Val)
c.3287C>T (p.Ala1096Val)
2g.166228866G>CCA349064131SCN1A-AS1,SCN9Ac.4031C>G (p.Ala1344Gly)
c.3875C>G (p.Ala1292Gly)
c.3998C>G (p.Ala1333Gly)
n.612-19329G>C
c.3644C>G (p.Ala1215Gly)
c.3287C>G (p.Ala1096Gly)
2g.166228866G>TCA349064134SCN1A-AS1,SCN9Ac.4031C>A (p.Ala1344Asp)
c.3875C>A (p.Ala1292Asp)
c.3998C>A (p.Ala1333Asp)
n.612-19329G>T
c.3644C>A (p.Ala1215Asp)
c.3287C>A (p.Ala1096Asp)
2g.166228867C>ACA1943961SCN1A-AS1,SCN9Ac.4030G>T (p.Ala1344Ser)
c.3874G>T (p.Ala1292Ser)
c.3997G>T (p.Ala1333Ser)
n.612-19328C>A
c.3643G>T (p.Ala1215Ser)
c.3286G>T (p.Ala1096Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228867C=CA1304943686SCN1A-AS1,SCN9Ac.4030G= (p.Ala1344=)
c.3874G= (p.Ala1292=)
c.3997G= (p.Ala1333=)
n.612-19328C=
c.3643G= (p.Ala1215=)
c.3286G= (p.Ala1096=)
2g.166228867C>GCA349064143SCN1A-AS1,SCN9Ac.4030G>C (p.Ala1344Pro)
c.3874G>C (p.Ala1292Pro)
c.3997G>C (p.Ala1333Pro)
n.612-19328C>G
c.3643G>C (p.Ala1215Pro)
c.3286G>C (p.Ala1096Pro)
 gnomAD v4
2g.166228867C>TCA349064141SCN1A-AS1,SCN9Ac.4030G>A (p.Ala1344Thr)
c.3874G>A (p.Ala1292Thr)
c.3997G>A (p.Ala1333Thr)
n.612-19328C>T
c.3643G>A (p.Ala1215Thr)
c.3286G>A (p.Ala1096Thr)
2g.166228868A>CCA349064145SCN1A-AS1,SCN9Ac.4029T>G (p.Phe1343Leu)
c.3873T>G (p.Phe1291Leu)
c.3996T>G (p.Phe1332Leu)
n.612-19327A>C
c.3642T>G (p.Phe1214Leu)
c.3285T>G (p.Phe1095Leu)
2g.166228868A>GCA429899332SCN1A-AS1,SCN9Ac.4029T>C (p.Phe1343=)
c.3873T>C (p.Phe1291=)
c.3996T>C (p.Phe1332=)
n.612-19327A>G
c.3642T>C (p.Phe1214=)
c.3285T>C (p.Phe1095=)
 gnomAD v4
2g.166228868A>TCA349064157SCN1A-AS1,SCN9Ac.4029T>A (p.Phe1343Leu)
c.3873T>A (p.Phe1291Leu)
c.3996T>A (p.Phe1332Leu)
n.612-19327A>T
c.3642T>A (p.Phe1214Leu)
c.3285T>A (p.Phe1095Leu)
2g.166228869A>CCA349064160SCN1A-AS1,SCN9Ac.4028T>G (p.Phe1343Cys)
c.3872T>G (p.Phe1291Cys)
c.3995T>G (p.Phe1332Cys)
n.612-19326A>C
c.3641T>G (p.Phe1214Cys)
c.3284T>G (p.Phe1095Cys)
2g.166228869A>GCA349064161SCN1A-AS1,SCN9Ac.4028T>C (p.Phe1343Ser)
c.3872T>C (p.Phe1291Ser)
c.3995T>C (p.Phe1332Ser)
n.612-19326A>G
c.3641T>C (p.Phe1214Ser)
c.3284T>C (p.Phe1095Ser)
2g.166228869A>TCA349064162SCN1A-AS1,SCN9Ac.4028T>A (p.Phe1343Tyr)
c.3872T>A (p.Phe1291Tyr)
c.3995T>A (p.Phe1332Tyr)
n.612-19326A>T
c.3641T>A (p.Phe1214Tyr)
c.3284T>A (p.Phe1095Tyr)
2g.166228870A>CCA349064163SCN1A-AS1,SCN9Ac.4027T>G (p.Phe1343Val)
c.3871T>G (p.Phe1291Val)
c.3994T>G (p.Phe1332Val)
n.612-19325A>C
c.3640T>G (p.Phe1214Val)
c.3283T>G (p.Phe1095Val)
2g.166228870A>GCA349064164SCN1A-AS1,SCN9Ac.4027T>C (p.Phe1343Leu)
c.3871T>C (p.Phe1291Leu)
c.3994T>C (p.Phe1332Leu)
n.612-19325A>G
c.3640T>C (p.Phe1214Leu)
c.3283T>C (p.Phe1095Leu)
2g.166228870A>TCA349064166SCN1A-AS1,SCN9Ac.4027T>A (p.Phe1343Ile)
c.3871T>A (p.Phe1291Ile)
c.3994T>A (p.Phe1332Ile)
n.612-19325A>T
c.3640T>A (p.Phe1214Ile)
c.3283T>A (p.Phe1095Ile)
2g.166228870_166228871delinsACCA1304943687SCN1A-AS1,SCN9Ac.4026_4027delinsGT (p.Leu1342=)
c.3870_3871delinsGT (p.Leu1290=)
c.3993_3994delinsGT (p.Leu1331=)
n.612-19325_612-19324delinsAC
c.3639_3640delinsGT (p.Leu1213=)
c.3282_3283delinsGT (p.Leu1094=)
2g.166228871C>ACA59810326SCN1A-AS1,SCN9Ac.4026G>T (p.Leu1342Phe)
c.3870G>T (p.Leu1290Phe)
c.3993G>T (p.Leu1331Phe)
n.612-19324C>A
c.3639G>T (p.Leu1213Phe)
c.3282G>T (p.Leu1094Phe)
 dbSNP
2g.166228871C=CA1304943688SCN1A-AS1,SCN9Ac.4026G= (p.Leu1342=)
c.3870G= (p.Leu1290=)
c.3993G= (p.Leu1331=)
n.612-19324C=
c.3639G= (p.Leu1213=)
c.3282G= (p.Leu1094=)
2g.166228871C>GCA59810323SCN1A-AS1,SCN9Ac.4026G>C (p.Leu1342Phe)
c.3870G>C (p.Leu1290Phe)
c.3993G>C (p.Leu1331Phe)
n.612-19324C>G
c.3639G>C (p.Leu1213Phe)
c.3282G>C (p.Leu1094Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.166228871C>TCA429899336SCN1A-AS1,SCN9Ac.4026G>A (p.Leu1342=)
c.3870G>A (p.Leu1290=)
c.3993G>A (p.Leu1331=)
n.612-19324C>T
c.3639G>A (p.Leu1213=)
c.3282G>A (p.Leu1094=)
2g.166228871delinsAACA171010SCN1A-AS1,SCN9Ac.4026delinsTT (p.Leu1342PhefsTer8)
c.3870delinsTT (p.Leu1290PhefsTer8)
c.3993delinsTT (p.Leu1331PhefsTer8)
n.612-19324delinsAA
c.3639delinsTT (p.Leu1213PhefsTer8)
c.3282delinsTT (p.Leu1094PhefsTer8)
 ClinVar dbSNP
2g.166228872A=CA1304943689SCN1A-AS1,SCN9Ac.4025T= (p.Leu1342=)
c.3869T= (p.Leu1290=)
c.3992T= (p.Leu1331=)
n.612-19323A=
c.3638T= (p.Leu1213=)
c.3281T= (p.Leu1094=)
2g.166228872A>CCA349064195SCN1A-AS1,SCN9Ac.4025T>G (p.Leu1342Trp)
c.3869T>G (p.Leu1290Trp)
c.3992T>G (p.Leu1331Trp)
n.612-19323A>C
c.3638T>G (p.Leu1213Trp)
c.3281T>G (p.Leu1094Trp)
2g.166228872A>GCA349064198SCN1A-AS1,SCN9Ac.4025T>C (p.Leu1342Ser)
c.3869T>C (p.Leu1290Ser)
c.3992T>C (p.Leu1331Ser)
n.612-19323A>G
c.3638T>C (p.Leu1213Ser)
c.3281T>C (p.Leu1094Ser)
 ClinVar dbSNP
2g.166228872A>TCA349064201SCN1A-AS1,SCN9Ac.4025T>A (p.Leu1342Ter)
c.3869T>A (p.Leu1290Ter)
c.3992T>A (p.Leu1331Ter)
n.612-19323A>T
c.3638T>A (p.Leu1213Ter)
c.3281T>A (p.Leu1094Ter)
 dbSNP
2g.166228873A=CA1304943690SCN1A-AS1,SCN9Ac.4024T= (p.Leu1342=)
c.3868T= (p.Leu1290=)
c.3991T= (p.Leu1331=)
n.612-19322A=
c.3637T= (p.Leu1213=)
c.3280T= (p.Leu1094=)
2g.166228873A>CCA349064206SCN1A-AS1,SCN9Ac.4024T>G (p.Leu1342Val)
c.3868T>G (p.Leu1290Val)
c.3991T>G (p.Leu1331Val)
n.612-19322A>C
c.3637T>G (p.Leu1213Val)
c.3280T>G (p.Leu1094Val)
 ClinVar dbSNP COSMIC COSMIC
2g.166228873A>GCA429899344SCN1A-AS1,SCN9Ac.4024T>C (p.Leu1342=)
c.3868T>C (p.Leu1290=)
c.3991T>C (p.Leu1331=)
n.612-19322A>G
c.3637T>C (p.Leu1213=)
c.3280T>C (p.Leu1094=)
 gnomAD v4
2g.166228873A>TCA349064208SCN1A-AS1,SCN9Ac.4024T>A (p.Leu1342Met)
c.3868T>A (p.Leu1290Met)
c.3991T>A (p.Leu1331Met)
n.612-19322A>T
c.3637T>A (p.Leu1213Met)
c.3280T>A (p.Leu1094Met)
2g.166228874A>CCA349064212SCN1A-AS1,SCN9Ac.4023T>G (p.Asn1341Lys)
c.3867T>G (p.Asn1289Lys)
c.3990T>G (p.Asn1330Lys)
n.612-19321A>C
c.3636T>G (p.Asn1212Lys)
c.3279T>G (p.Asn1093Lys)
 COSMIC COSMIC
2g.166228874A>GCA429899346SCN1A-AS1,SCN9Ac.4023T>C (p.Asn1341=)
c.3867T>C (p.Asn1289=)
c.3990T>C (p.Asn1330=)
n.612-19321A>G
c.3636T>C (p.Asn1212=)
c.3279T>C (p.Asn1093=)
2g.166228874A>TCA349064215SCN1A-AS1,SCN9Ac.4023T>A (p.Asn1341Lys)
c.3867T>A (p.Asn1289Lys)
c.3990T>A (p.Asn1330Lys)
n.612-19321A>T
c.3636T>A (p.Asn1212Lys)
c.3279T>A (p.Asn1093Lys)
2g.166228875T>ACA349064221SCN1A-AS1,SCN9Ac.4022A>T (p.Asn1341Ile)
c.3866A>T (p.Asn1289Ile)
c.3989A>T (p.Asn1330Ile)
n.612-19320T>A
c.3635A>T (p.Asn1212Ile)
c.3278A>T (p.Asn1093Ile)
2g.166228875T>CCA349064226SCN1A-AS1,SCN9Ac.4022A>G (p.Asn1341Ser)
c.3866A>G (p.Asn1289Ser)
c.3989A>G (p.Asn1330Ser)
n.612-19320T>C
c.3635A>G (p.Asn1212Ser)
c.3278A>G (p.Asn1093Ser)
2g.166228875T>GCA349064228SCN1A-AS1,SCN9Ac.4022A>C (p.Asn1341Thr)
c.3866A>C (p.Asn1289Thr)
c.3989A>C (p.Asn1330Thr)
n.612-19320T>G
c.3635A>C (p.Asn1212Thr)
c.3278A>C (p.Asn1093Thr)
2g.166228876T>ACA349064231SCN1A-AS1,SCN9Ac.4021A>T (p.Asn1341Tyr)
c.3865A>T (p.Asn1289Tyr)
c.3988A>T (p.Asn1330Tyr)
n.612-19319T>A
c.3634A>T (p.Asn1212Tyr)
c.3277A>T (p.Asn1093Tyr)
2g.166228876T>CCA349064235SCN1A-AS1,SCN9Ac.4021A>G (p.Asn1341Asp)
c.3865A>G (p.Asn1289Asp)
c.3988A>G (p.Asn1330Asp)
n.612-19319T>C
c.3634A>G (p.Asn1212Asp)
c.3277A>G (p.Asn1093Asp)
2g.166228876T>GCA1943962SCN1A-AS1,SCN9Ac.4021A>C (p.Asn1341His)
c.3865A>C (p.Asn1289His)
c.3988A>C (p.Asn1330His)
n.612-19319T>G
c.3634A>C (p.Asn1212His)
c.3277A>C (p.Asn1093His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228876T=CA1304943691SCN1A-AS1,SCN9Ac.4021A= (p.Asn1341=)
c.3865A= (p.Asn1289=)
c.3988A= (p.Asn1330=)
n.612-19319T=
c.3634A= (p.Asn1212=)
c.3277A= (p.Asn1093=)
2g.166228877T>ACA429899347SCN1A-AS1,SCN9Ac.4020A>T (p.Val1340=)
c.3864A>T (p.Val1288=)
c.3987A>T (p.Val1329=)
n.612-19318T>A
c.3633A>T (p.Val1211=)
c.3276A>T (p.Val1092=)
2g.166228877T>CCA429899348SCN1A-AS1,SCN9Ac.4020A>G (p.Val1340=)
c.3864A>G (p.Val1288=)
c.3987A>G (p.Val1329=)
n.612-19318T>C
c.3633A>G (p.Val1211=)
c.3276A>G (p.Val1092=)
2g.166228877T>GCA429899349SCN1A-AS1,SCN9Ac.4020A>C (p.Val1340=)
c.3864A>C (p.Val1288=)
c.3987A>C (p.Val1329=)
n.612-19318T>G
c.3633A>C (p.Val1211=)
c.3276A>C (p.Val1092=)
2g.166228878A>CCA349064240SCN1A-AS1,SCN9Ac.4019T>G (p.Val1340Gly)
c.3863T>G (p.Val1288Gly)
c.3986T>G (p.Val1329Gly)
n.612-19317A>C
c.3632T>G (p.Val1211Gly)
c.3275T>G (p.Val1092Gly)
2g.166228878A>GCA349064241SCN1A-AS1,SCN9Ac.4019T>C (p.Val1340Ala)
c.3863T>C (p.Val1288Ala)
c.3986T>C (p.Val1329Ala)
n.612-19317A>G
c.3632T>C (p.Val1211Ala)
c.3275T>C (p.Val1092Ala)
2g.166228878A>TCA349064242SCN1A-AS1,SCN9Ac.4019T>A (p.Val1340Glu)
c.3863T>A (p.Val1288Glu)
c.3986T>A (p.Val1329Glu)
n.612-19317A>T
c.3632T>A (p.Val1211Glu)
c.3275T>A (p.Val1092Glu)
2g.166228879C>ACA349064247SCN1A-AS1,SCN9Ac.4018G>T (p.Val1340Leu)
c.3862G>T (p.Val1288Leu)
c.3985G>T (p.Val1329Leu)
n.612-19316C>A
c.3631G>T (p.Val1211Leu)
c.3274G>T (p.Val1092Leu)
2g.166228879C>GCA349064245SCN1A-AS1,SCN9Ac.4018G>C (p.Val1340Leu)
c.3862G>C (p.Val1288Leu)
c.3985G>C (p.Val1329Leu)
n.612-19316C>G
c.3631G>C (p.Val1211Leu)
c.3274G>C (p.Val1092Leu)
2g.166228879C>TCA349064243SCN1A-AS1,SCN9Ac.4018G>A (p.Val1340Ile)
c.3862G>A (p.Val1288Ile)
c.3985G>A (p.Val1329Ile)
n.612-19316C>T
c.3631G>A (p.Val1211Ile)
c.3274G>A (p.Val1092Ile)
 gnomAD v4
2g.166228880T>ACA429899351SCN1A-AS1,SCN9Ac.4017A>T (p.Gly1339=)
c.3861A>T (p.Gly1287=)
c.3984A>T (p.Gly1328=)
n.612-19315T>A
c.3630A>T (p.Gly1210=)
c.3273A>T (p.Gly1091=)
2g.166228880T>CCA429899352SCN1A-AS1,SCN9Ac.4017A>G (p.Gly1339=)
c.3861A>G (p.Gly1287=)
c.3984A>G (p.Gly1328=)
n.612-19315T>C
c.3630A>G (p.Gly1210=)
c.3273A>G (p.Gly1091=)
2g.166228880T>GCA429899353SCN1A-AS1,SCN9Ac.4017A>C (p.Gly1339=)
c.3861A>C (p.Gly1287=)
c.3984A>C (p.Gly1328=)
n.612-19315T>G
c.3630A>C (p.Gly1210=)
c.3273A>C (p.Gly1091=)
2g.166228881C>ACA349064250SCN1A-AS1,SCN9Ac.4016G>T (p.Gly1339Val)
c.3860G>T (p.Gly1287Val)
c.3983G>T (p.Gly1328Val)
n.612-19314C>A
c.3629G>T (p.Gly1210Val)
c.3272G>T (p.Gly1091Val)
2g.166228881C=CA1304943692SCN1A-AS1,SCN9Ac.4016G= (p.Gly1339=)
c.3860G= (p.Gly1287=)
c.3983G= (p.Gly1328=)
n.612-19314C=
c.3629G= (p.Gly1210=)
c.3272G= (p.Gly1091=)
2g.166228881C>GCA349064251SCN1A-AS1,SCN9Ac.4016G>C (p.Gly1339Ala)
c.3860G>C (p.Gly1287Ala)
c.3983G>C (p.Gly1328Ala)
n.612-19314C>G
c.3629G>C (p.Gly1210Ala)
c.3272G>C (p.Gly1091Ala)
2g.166228881C>TCA59810333SCN1A-AS1,SCN9Ac.4016G>A (p.Gly1339Glu)
c.3860G>A (p.Gly1287Glu)
c.3983G>A (p.Gly1328Glu)
n.612-19314C>T
c.3629G>A (p.Gly1210Glu)
c.3272G>A (p.Gly1091Glu)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.166228882C>ACA349064252SCN1A-AS1,SCN9Ac.4015G>T (p.Gly1339Ter)
c.3859G>T (p.Gly1287Ter)
c.3982G>T (p.Gly1328Ter)
n.612-19313C>A
c.3628G>T (p.Gly1210Ter)
c.3271G>T (p.Gly1091Ter)
 dbSNP
2g.166228882C=CA1304943693SCN1A-AS1,SCN9Ac.4015G= (p.Gly1339=)
c.3859G= (p.Gly1287=)
c.3982G= (p.Gly1328=)
n.612-19313C=
c.3628G= (p.Gly1210=)
c.3271G= (p.Gly1091=)
2g.166228882C>GCA349064253SCN1A-AS1,SCN9Ac.4015G>C (p.Gly1339Arg)
c.3859G>C (p.Gly1287Arg)
c.3982G>C (p.Gly1328Arg)
n.612-19313C>G
c.3628G>C (p.Gly1210Arg)
c.3271G>C (p.Gly1091Arg)
2g.166228882C>TCA349064254SCN1A-AS1,SCN9Ac.4015G>A (p.Gly1339Arg)
c.3859G>A (p.Gly1287Arg)
c.3982G>A (p.Gly1328Arg)
n.612-19313C>T
c.3628G>A (p.Gly1210Arg)
c.3271G>A (p.Gly1091Arg)
2g.166228883C>ACA349064255SCN1A-AS1,SCN9Ac.4014G>T (p.Met1338Ile)
c.3858G>T (p.Met1286Ile)
c.3981G>T (p.Met1327Ile)
n.612-19312C>A
c.3627G>T (p.Met1209Ile)
c.3270G>T (p.Met1090Ile)
2g.166228883C>GCA349064256SCN1A-AS1,SCN9Ac.4014G>C (p.Met1338Ile)
c.3858G>C (p.Met1286Ile)
c.3981G>C (p.Met1327Ile)
n.612-19312C>G
c.3627G>C (p.Met1209Ile)
c.3270G>C (p.Met1090Ile)
2g.166228883C>TCA349064257SCN1A-AS1,SCN9Ac.4014G>A (p.Met1338Ile)
c.3858G>A (p.Met1286Ile)
c.3981G>A (p.Met1327Ile)
n.612-19312C>T
c.3627G>A (p.Met1209Ile)
c.3270G>A (p.Met1090Ile)
2g.166228884A>CCA349064258SCN1A-AS1,SCN9Ac.4013T>G (p.Met1338Arg)
c.3857T>G (p.Met1286Arg)
c.3980T>G (p.Met1327Arg)
n.612-19311A>C
c.3626T>G (p.Met1209Arg)
c.3269T>G (p.Met1090Arg)
2g.166228884A>GCA349064259SCN1A-AS1,SCN9Ac.4013T>C (p.Met1338Thr)
c.3857T>C (p.Met1286Thr)
c.3980T>C (p.Met1327Thr)
n.612-19311A>G
c.3626T>C (p.Met1209Thr)
c.3269T>C (p.Met1090Thr)
2g.166228884A>TCA349064260SCN1A-AS1,SCN9Ac.4013T>A (p.Met1338Lys)
c.3857T>A (p.Met1286Lys)
c.3980T>A (p.Met1327Lys)
n.612-19311A>T
c.3626T>A (p.Met1209Lys)
c.3269T>A (p.Met1090Lys)
2g.166228885T>ACA349064261SCN1A-AS1,SCN9Ac.4012A>T (p.Met1338Leu)
c.3856A>T (p.Met1286Leu)
c.3979A>T (p.Met1327Leu)
n.612-19310T>A
c.3625A>T (p.Met1209Leu)
c.3268A>T (p.Met1090Leu)
 gnomAD v4
2g.166228885T>CCA59810336SCN1A-AS1,SCN9Ac.4012A>G (p.Met1338Val)
c.3856A>G (p.Met1286Val)
c.3979A>G (p.Met1327Val)
n.612-19310T>C
c.3625A>G (p.Met1209Val)
c.3268A>G (p.Met1090Val)
 ClinVar dbSNP
2g.166228885T>GCA349064262SCN1A-AS1,SCN9Ac.4012A>C (p.Met1338Leu)
c.3856A>C (p.Met1286Leu)
c.3979A>C (p.Met1327Leu)
n.612-19310T>G
c.3625A>C (p.Met1209Leu)
c.3268A>C (p.Met1090Leu)
2g.166228885T=CA1304943694SCN1A-AS1,SCN9Ac.4012A= (p.Met1338=)
c.3856A= (p.Met1286=)
c.3979A= (p.Met1327=)
n.612-19310T=
c.3625A= (p.Met1209=)
c.3268A= (p.Met1090=)
2g.166228886G>ACA429899358SCN1A-AS1,SCN9Ac.4011C>T (p.Ile1337=)
c.3855C>T (p.Ile1285=)
c.3978C>T (p.Ile1326=)
n.612-19309G>A
c.3624C>T (p.Ile1208=)
c.3267C>T (p.Ile1089=)
2g.166228886G>CCA349064263SCN1A-AS1,SCN9Ac.4011C>G (p.Ile1337Met)
c.3855C>G (p.Ile1285Met)
c.3978C>G (p.Ile1326Met)
n.612-19309G>C
c.3624C>G (p.Ile1208Met)
c.3267C>G (p.Ile1089Met)
2g.166228886G>TCA429899360SCN1A-AS1,SCN9Ac.4011C>A (p.Ile1337=)
c.3855C>A (p.Ile1285=)
c.3978C>A (p.Ile1326=)
n.612-19309G>T
c.3624C>A (p.Ile1208=)
c.3267C>A (p.Ile1089=)
2g.166228887A>CCA349064266SCN1A-AS1,SCN9Ac.4010T>G (p.Ile1337Ser)
c.3854T>G (p.Ile1285Ser)
c.3977T>G (p.Ile1326Ser)
n.612-19308A>C
c.3623T>G (p.Ile1208Ser)
c.3266T>G (p.Ile1089Ser)
2g.166228887A>GCA349064265SCN1A-AS1,SCN9Ac.4010T>C (p.Ile1337Thr)
c.3854T>C (p.Ile1285Thr)
c.3977T>C (p.Ile1326Thr)
n.612-19308A>G
c.3623T>C (p.Ile1208Thr)
c.3266T>C (p.Ile1089Thr)
2g.166228887A>TCA349064264SCN1A-AS1,SCN9Ac.4010T>A (p.Ile1337Asn)
c.3854T>A (p.Ile1285Asn)
c.3977T>A (p.Ile1326Asn)
n.612-19308A>T
c.3623T>A (p.Ile1208Asn)
c.3266T>A (p.Ile1089Asn)
2g.166228888T>ACA349064267SCN1A-AS1,SCN9Ac.4009A>T (p.Ile1337Phe)
c.3853A>T (p.Ile1285Phe)
c.3976A>T (p.Ile1326Phe)
n.612-19307T>A
c.3622A>T (p.Ile1208Phe)
c.3265A>T (p.Ile1089Phe)
2g.166228888T>CCA1943963SCN1A-AS1,SCN9Ac.4009A>G (p.Ile1337Val)
c.3853A>G (p.Ile1285Val)
c.3976A>G (p.Ile1326Val)
n.612-19307T>C
c.3622A>G (p.Ile1208Val)
c.3265A>G (p.Ile1089Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228888T>GCA1943964SCN1A-AS1,SCN9Ac.4009A>C (p.Ile1337Leu)
c.3853A>C (p.Ile1285Leu)
c.3976A>C (p.Ile1326Leu)
n.612-19307T>G
c.3622A>C (p.Ile1208Leu)
c.3265A>C (p.Ile1089Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228888T=CA1304943695SCN1A-AS1,SCN9Ac.4009A= (p.Ile1337=)
c.3853A= (p.Ile1285=)
c.3976A= (p.Ile1326=)
n.612-19307T=
c.3622A= (p.Ile1208=)
c.3265A= (p.Ile1089=)
2g.166228889G>ACA429899361SCN1A-AS1,SCN9Ac.4008C>T (p.Ser1336=)
c.3852C>T (p.Ser1284=)
c.3975C>T (p.Ser1325=)
n.612-19306G>A
c.3621C>T (p.Ser1207=)
c.3264C>T (p.Ser1088=)
 ClinVar dbSNP
2g.166228889G>CCA349064268SCN1A-AS1,SCN9Ac.4008C>G (p.Ser1336Arg)
c.3852C>G (p.Ser1284Arg)
c.3975C>G (p.Ser1325Arg)
n.612-19306G>C
c.3621C>G (p.Ser1207Arg)
c.3264C>G (p.Ser1088Arg)
2g.166228889G=CA1304943696SCN1A-AS1,SCN9Ac.4008C= (p.Ser1336=)
c.3852C= (p.Ser1284=)
c.3975C= (p.Ser1325=)
n.612-19306G=
c.3621C= (p.Ser1207=)
c.3264C= (p.Ser1088=)
2g.166228889G>TCA349064269SCN1A-AS1,SCN9Ac.4008C>A (p.Ser1336Arg)
c.3852C>A (p.Ser1284Arg)
c.3975C>A (p.Ser1325Arg)
n.612-19306G>T
c.3621C>A (p.Ser1207Arg)
c.3264C>A (p.Ser1088Arg)
2g.166228890C>ACA349064270SCN1A-AS1,SCN9Ac.4007G>T (p.Ser1336Ile)
c.3851G>T (p.Ser1284Ile)
c.3974G>T (p.Ser1325Ile)
n.612-19305C>A
c.3620G>T (p.Ser1207Ile)
c.3263G>T (p.Ser1088Ile)
2g.166228890C>GCA349064271SCN1A-AS1,SCN9Ac.4007G>C (p.Ser1336Thr)
c.3851G>C (p.Ser1284Thr)
c.3974G>C (p.Ser1325Thr)
n.612-19305C>G
c.3620G>C (p.Ser1207Thr)
c.3263G>C (p.Ser1088Thr)
2g.166228890C>TCA349064272SCN1A-AS1,SCN9Ac.4007G>A (p.Ser1336Asn)
c.3851G>A (p.Ser1284Asn)
c.3974G>A (p.Ser1325Asn)
n.612-19305C>T
c.3620G>A (p.Ser1207Asn)
c.3263G>A (p.Ser1088Asn)
2g.166228891T>ACA349064273SCN1A-AS1,SCN9Ac.4006A>T (p.Ser1336Cys)
c.3850A>T (p.Ser1284Cys)
c.3973A>T (p.Ser1325Cys)
n.612-19304T>A
c.3619A>T (p.Ser1207Cys)
c.3262A>T (p.Ser1088Cys)
2g.166228891T>CCA349064274SCN1A-AS1,SCN9Ac.4006A>G (p.Ser1336Gly)
c.3850A>G (p.Ser1284Gly)
c.3973A>G (p.Ser1325Gly)
n.612-19304T>C
c.3619A>G (p.Ser1207Gly)
c.3262A>G (p.Ser1088Gly)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.166228891T>GCA349064275SCN1A-AS1,SCN9Ac.4006A>C (p.Ser1336Arg)
c.3850A>C (p.Ser1284Arg)
c.3973A>C (p.Ser1325Arg)
n.612-19304T>G
c.3619A>C (p.Ser1207Arg)
c.3262A>C (p.Ser1088Arg)
2g.166228891T=CA1304943697SCN1A-AS1,SCN9Ac.4006A= (p.Ser1336=)
c.3850A= (p.Ser1284=)
c.3973A= (p.Ser1325=)
n.612-19304T=
c.3619A= (p.Ser1207=)
c.3262A= (p.Ser1088=)
2g.166228892G>ACA429899367SCN1A-AS1,SCN9Ac.4005C>T (p.Phe1335=)
c.3849C>T (p.Phe1283=)
c.3972C>T (p.Phe1324=)
n.612-19303G>A
c.3618C>T (p.Phe1206=)
c.3261C>T (p.Phe1087=)
2g.166228892G>CCA349064276SCN1A-AS1,SCN9Ac.4005C>G (p.Phe1335Leu)
c.3849C>G (p.Phe1283Leu)
c.3972C>G (p.Phe1324Leu)
n.612-19303G>C
c.3618C>G (p.Phe1206Leu)
c.3261C>G (p.Phe1087Leu)
 ClinVar gnomAD v4
2g.166228892G>TCA349064279SCN1A-AS1,SCN9Ac.4005C>A (p.Phe1335Leu)
c.3849C>A (p.Phe1283Leu)
c.3972C>A (p.Phe1324Leu)
n.612-19303G>T
c.3618C>A (p.Phe1206Leu)
c.3261C>A (p.Phe1087Leu)
2g.166228893A>CCA349064281SCN1A-AS1,SCN9Ac.4004T>G (p.Phe1335Cys)
c.3848T>G (p.Phe1283Cys)
c.3971T>G (p.Phe1324Cys)
n.612-19302A>C
c.3617T>G (p.Phe1206Cys)
c.3260T>G (p.Phe1087Cys)
2g.166228893A>GCA349064282SCN1A-AS1,SCN9Ac.4004T>C (p.Phe1335Ser)
c.3848T>C (p.Phe1283Ser)
c.3971T>C (p.Phe1324Ser)
n.612-19302A>G
c.3617T>C (p.Phe1206Ser)
c.3260T>C (p.Phe1087Ser)
2g.166228893A>TCA349064280SCN1A-AS1,SCN9Ac.4004T>A (p.Phe1335Tyr)
c.3848T>A (p.Phe1283Tyr)
c.3971T>A (p.Phe1324Tyr)
n.612-19302A>T
c.3617T>A (p.Phe1206Tyr)
c.3260T>A (p.Phe1087Tyr)

Number of alleles fetched