Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166228914C>ACA349064464SCN1A-AS1,SCN9Ac.3983G>T (p.Cys1328Phe)
c.3827G>T (p.Cys1276Phe)
c.3950G>T (p.Cys1317Phe)
n.612-19281C>A
c.3596G>T (p.Cys1199Phe)
c.3239G>T (p.Cys1080Phe)
2g.166228914C>GCA349064467SCN1A-AS1,SCN9Ac.3983G>C (p.Cys1328Ser)
c.3827G>C (p.Cys1276Ser)
c.3950G>C (p.Cys1317Ser)
n.612-19281C>G
c.3596G>C (p.Cys1199Ser)
c.3239G>C (p.Cys1080Ser)
2g.166228914C>TCA349064471SCN1A-AS1,SCN9Ac.3983G>A (p.Cys1328Tyr)
c.3827G>A (p.Cys1276Tyr)
c.3950G>A (p.Cys1317Tyr)
n.612-19281C>T
c.3596G>A (p.Cys1199Tyr)
c.3239G>A (p.Cys1080Tyr)
2g.166228915A>CCA349064475SCN1A-AS1,SCN9Ac.3982T>G (p.Cys1328Gly)
c.3826T>G (p.Cys1276Gly)
c.3949T>G (p.Cys1317Gly)
n.612-19280A>C
c.3595T>G (p.Cys1199Gly)
c.3238T>G (p.Cys1080Gly)
2g.166228915A>GCA349064476SCN1A-AS1,SCN9Ac.3982T>C (p.Cys1328Arg)
c.3826T>C (p.Cys1276Arg)
c.3949T>C (p.Cys1317Arg)
n.612-19280A>G
c.3595T>C (p.Cys1199Arg)
c.3238T>C (p.Cys1080Arg)
2g.166228915A>TCA349064479SCN1A-AS1,SCN9Ac.3982T>A (p.Cys1328Ser)
c.3826T>A (p.Cys1276Ser)
c.3949T>A (p.Cys1317Ser)
n.612-19280A>T
c.3595T>A (p.Cys1199Ser)
c.3238T>A (p.Cys1080Ser)
2g.166228916C>ACA429899391SCN1A-AS1,SCN9Ac.3981G>T (p.Val1327=)
c.3825G>T (p.Val1275=)
c.3948G>T (p.Val1316=)
n.612-19279C>A
c.3594G>T (p.Val1198=)
c.3237G>T (p.Val1079=)
 gnomAD v4
2g.166228916C=CA1304943704SCN1A-AS1,SCN9Ac.3981G= (p.Val1327=)
c.3825G= (p.Val1275=)
c.3948G= (p.Val1316=)
n.612-19279C=
c.3594G= (p.Val1198=)
c.3237G= (p.Val1079=)
2g.166228916C>GCA429899392SCN1A-AS1,SCN9Ac.3981G>C (p.Val1327=)
c.3825G>C (p.Val1275=)
c.3948G>C (p.Val1316=)
n.612-19279C>G
c.3594G>C (p.Val1198=)
c.3237G>C (p.Val1079=)
2g.166228916C>TCA1943967SCN1A-AS1,SCN9Ac.3981G>A (p.Val1327=)
c.3825G>A (p.Val1275=)
c.3948G>A (p.Val1316=)
n.612-19279C>T
c.3594G>A (p.Val1198=)
c.3237G>A (p.Val1079=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228917A>CCA349064484SCN1A-AS1,SCN9Ac.3980T>G (p.Val1327Gly)
c.3824T>G (p.Val1275Gly)
c.3947T>G (p.Val1316Gly)
n.612-19278A>C
c.3593T>G (p.Val1198Gly)
c.3236T>G (p.Val1079Gly)
 dbSNP
2g.166228917A>GCA349064498SCN1A-AS1,SCN9Ac.3980T>C (p.Val1327Ala)
c.3824T>C (p.Val1275Ala)
c.3947T>C (p.Val1316Ala)
n.612-19278A>G
c.3593T>C (p.Val1198Ala)
c.3236T>C (p.Val1079Ala)
2g.166228917A>TCA349064502SCN1A-AS1,SCN9Ac.3980T>A (p.Val1327Glu)
c.3824T>A (p.Val1275Glu)
c.3947T>A (p.Val1316Glu)
n.612-19278A>T
c.3593T>A (p.Val1198Glu)
c.3236T>A (p.Val1079Glu)
2g.166228918C>ACA349064520SCN1A-AS1,SCN9Ac.3979G>T (p.Val1327Leu)
c.3823G>T (p.Val1275Leu)
c.3946G>T (p.Val1316Leu)
n.612-19277C>A
c.3592G>T (p.Val1198Leu)
c.3235G>T (p.Val1079Leu)
 ClinVar
2g.166228918C>GCA349064510SCN1A-AS1,SCN9Ac.3979G>C (p.Val1327Leu)
c.3823G>C (p.Val1275Leu)
c.3946G>C (p.Val1316Leu)
n.612-19277C>G
c.3592G>C (p.Val1198Leu)
c.3235G>C (p.Val1079Leu)
2g.166228918C>TCA349064506SCN1A-AS1,SCN9Ac.3979G>A (p.Val1327Met)
c.3823G>A (p.Val1275Met)
c.3946G>A (p.Val1316Met)
n.612-19277C>T
c.3592G>A (p.Val1198Met)
c.3235G>A (p.Val1079Met)
2g.166228919A>CCA429899394SCN1A-AS1,SCN9Ac.3978T>G (p.Leu1326=)
c.3822T>G (p.Leu1274=)
c.3945T>G (p.Leu1315=)
n.612-19276A>C
c.3591T>G (p.Leu1197=)
c.3234T>G (p.Leu1078=)
2g.166228919A>GCA429899395SCN1A-AS1,SCN9Ac.3978T>C (p.Leu1326=)
c.3822T>C (p.Leu1274=)
c.3945T>C (p.Leu1315=)
n.612-19276A>G
c.3591T>C (p.Leu1197=)
c.3234T>C (p.Leu1078=)
2g.166228919A>TCA429899397SCN1A-AS1,SCN9Ac.3978T>A (p.Leu1326=)
c.3822T>A (p.Leu1274=)
c.3945T>A (p.Leu1315=)
n.612-19276A>T
c.3591T>A (p.Leu1197=)
c.3234T>A (p.Leu1078=)
2g.166228920A>CCA349064522SCN1A-AS1,SCN9Ac.3977T>G (p.Leu1326Arg)
c.3821T>G (p.Leu1274Arg)
c.3944T>G (p.Leu1315Arg)
n.612-19275A>C
c.3590T>G (p.Leu1197Arg)
c.3233T>G (p.Leu1078Arg)
2g.166228920A>GCA349064524SCN1A-AS1,SCN9Ac.3977T>C (p.Leu1326Pro)
c.3821T>C (p.Leu1274Pro)
c.3944T>C (p.Leu1315Pro)
n.612-19275A>G
c.3590T>C (p.Leu1197Pro)
c.3233T>C (p.Leu1078Pro)
2g.166228920A>TCA349064529SCN1A-AS1,SCN9Ac.3977T>A (p.Leu1326His)
c.3821T>A (p.Leu1274His)
c.3944T>A (p.Leu1315His)
n.612-19275A>T
c.3590T>A (p.Leu1197His)
c.3233T>A (p.Leu1078His)
2g.166228921G>ACA349064532SCN1A-AS1,SCN9Ac.3976C>T (p.Leu1326Phe)
c.3820C>T (p.Leu1274Phe)
c.3943C>T (p.Leu1315Phe)
n.612-19274G>A
c.3589C>T (p.Leu1197Phe)
c.3232C>T (p.Leu1078Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228921G>CCA349064535SCN1A-AS1,SCN9Ac.3976C>G (p.Leu1326Val)
c.3820C>G (p.Leu1274Val)
c.3943C>G (p.Leu1315Val)
n.612-19274G>C
c.3589C>G (p.Leu1197Val)
c.3232C>G (p.Leu1078Val)
2g.166228921G=CA1304943705SCN1A-AS1,SCN9Ac.3976C= (p.Leu1326=)
c.3820C= (p.Leu1274=)
c.3943C= (p.Leu1315=)
n.612-19274G=
c.3589C= (p.Leu1197=)
c.3232C= (p.Leu1078=)
2g.166228921G>TCA349064538SCN1A-AS1,SCN9Ac.3976C>A (p.Leu1326Ile)
c.3820C>A (p.Leu1274Ile)
c.3943C>A (p.Leu1315Ile)
n.612-19274G>T
c.3589C>A (p.Leu1197Ile)
c.3232C>A (p.Leu1078Ile)
2g.166228921_166228922delCA2753023369SCN1A-AS1,SCN9Ac.3975_3976del (p.Leu1326CysfsTer23)
c.3819_3820del (p.Leu1274CysfsTer23)
c.3942_3943del (p.Leu1315CysfsTer23)
n.612-19274_612-19273del
c.3588_3589del (p.Leu1197CysfsTer23)
c.3231_3232del (p.Leu1078CysfsTer23)
2g.166228922T>ACA429899400SCN1A-AS1,SCN9Ac.3975A>T (p.Leu1325=)
c.3819A>T (p.Leu1273=)
c.3942A>T (p.Leu1314=)
n.612-19273T>A
c.3588A>T (p.Leu1196=)
c.3231A>T (p.Leu1077=)
2g.166228922T>CCA1943968SCN1A-AS1,SCN9Ac.3975A>G (p.Leu1325=)
c.3819A>G (p.Leu1273=)
c.3942A>G (p.Leu1314=)
n.612-19273T>C
c.3588A>G (p.Leu1196=)
c.3231A>G (p.Leu1077=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228922T>GCA429899401SCN1A-AS1,SCN9Ac.3975A>C (p.Leu1325=)
c.3819A>C (p.Leu1273=)
c.3942A>C (p.Leu1314=)
n.612-19273T>G
c.3588A>C (p.Leu1196=)
c.3231A>C (p.Leu1077=)
2g.166228922T=CA1304943706SCN1A-AS1,SCN9Ac.3975A= (p.Leu1325=)
c.3819A= (p.Leu1273=)
c.3942A= (p.Leu1314=)
n.612-19273T=
c.3588A= (p.Leu1196=)
c.3231A= (p.Leu1077=)
2g.166228923A>CCA349064553SCN1A-AS1,SCN9Ac.3974T>G (p.Leu1325Arg)
c.3818T>G (p.Leu1273Arg)
c.3941T>G (p.Leu1314Arg)
n.612-19272A>C
c.3587T>G (p.Leu1196Arg)
c.3230T>G (p.Leu1077Arg)
2g.166228923A>GCA349064557SCN1A-AS1,SCN9Ac.3974T>C (p.Leu1325Pro)
c.3818T>C (p.Leu1273Pro)
c.3941T>C (p.Leu1314Pro)
n.612-19272A>G
c.3587T>C (p.Leu1196Pro)
c.3230T>C (p.Leu1077Pro)
2g.166228923A>TCA349064559SCN1A-AS1,SCN9Ac.3974T>A (p.Leu1325Gln)
c.3818T>A (p.Leu1273Gln)
c.3941T>A (p.Leu1314Gln)
n.612-19272A>T
c.3587T>A (p.Leu1196Gln)
c.3230T>A (p.Leu1077Gln)
2g.166228924G>ACA1943969SCN1A-AS1,SCN9Ac.3973C>T (p.Leu1325=)
c.3817C>T (p.Leu1273=)
c.3940C>T (p.Leu1314=)
n.612-19271G>A
c.3586C>T (p.Leu1196=)
c.3229C>T (p.Leu1077=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228924G>CCA349064563SCN1A-AS1,SCN9Ac.3973C>G (p.Leu1325Val)
c.3817C>G (p.Leu1273Val)
c.3940C>G (p.Leu1314Val)
n.612-19271G>C
c.3586C>G (p.Leu1196Val)
c.3229C>G (p.Leu1077Val)
2g.166228924G=CA1304943707SCN1A-AS1,SCN9Ac.3973C= (p.Leu1325=)
c.3817C= (p.Leu1273=)
c.3940C= (p.Leu1314=)
n.612-19271G=
c.3586C= (p.Leu1196=)
c.3229C= (p.Leu1077=)
2g.166228924G>TCA349064567SCN1A-AS1,SCN9Ac.3973C>A (p.Leu1325Ile)
c.3817C>A (p.Leu1273Ile)
c.3940C>A (p.Leu1314Ile)
n.612-19271G>T
c.3586C>A (p.Leu1196Ile)
c.3229C>A (p.Leu1077Ile)
2g.166228925C>ACA429899405SCN1A-AS1,SCN9Ac.3972G>T (p.Val1324=)
c.3816G>T (p.Val1272=)
c.3939G>T (p.Val1313=)
n.612-19270C>A
c.3585G>T (p.Val1195=)
c.3228G>T (p.Val1076=)
2g.166228925C=CA1304943708SCN1A-AS1,SCN9Ac.3972G= (p.Val1324=)
c.3816G= (p.Val1272=)
c.3939G= (p.Val1313=)
n.612-19270C=
c.3585G= (p.Val1195=)
c.3228G= (p.Val1076=)
2g.166228925C>GCA429899406SCN1A-AS1,SCN9Ac.3972G>C (p.Val1324=)
c.3816G>C (p.Val1272=)
c.3939G>C (p.Val1313=)
n.612-19270C>G
c.3585G>C (p.Val1195=)
c.3228G>C (p.Val1076=)
2g.166228925C>TCA429899407SCN1A-AS1,SCN9Ac.3972G>A (p.Val1324=)
c.3816G>A (p.Val1272=)
c.3939G>A (p.Val1313=)
n.612-19270C>T
c.3585G>A (p.Val1195=)
c.3228G>A (p.Val1076=)
 dbSNP
2g.166228926A=CA1304943709SCN1A-AS1,SCN9Ac.3971T= (p.Val1324=)
c.3815T= (p.Val1272=)
c.3938T= (p.Val1313=)
n.612-19269A=
c.3584T= (p.Val1195=)
c.3227T= (p.Val1076=)
2g.166228926A>CCA1943970SCN1A-AS1,SCN9Ac.3971T>G (p.Val1324Gly)
c.3815T>G (p.Val1272Gly)
c.3938T>G (p.Val1313Gly)
n.612-19269A>C
c.3584T>G (p.Val1195Gly)
c.3227T>G (p.Val1076Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228926A>GCA349064570SCN1A-AS1,SCN9Ac.3971T>C (p.Val1324Ala)
c.3815T>C (p.Val1272Ala)
c.3938T>C (p.Val1313Ala)
n.612-19269A>G
c.3584T>C (p.Val1195Ala)
c.3227T>C (p.Val1076Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228926A>TCA349064572SCN1A-AS1,SCN9Ac.3971T>A (p.Val1324Glu)
c.3815T>A (p.Val1272Glu)
c.3938T>A (p.Val1313Glu)
n.612-19269A>T
c.3584T>A (p.Val1195Glu)
c.3227T>A (p.Val1076Glu)
2g.166228927C>ACA349064579SCN1A-AS1,SCN9Ac.3970G>T (p.Val1324Leu)
c.3814G>T (p.Val1272Leu)
c.3937G>T (p.Val1313Leu)
n.612-19268C>A
c.3583G>T (p.Val1195Leu)
c.3226G>T (p.Val1076Leu)
2g.166228927C=CA1304943710SCN1A-AS1,SCN9Ac.3970G= (p.Val1324=)
c.3814G= (p.Val1272=)
c.3937G= (p.Val1313=)
n.612-19268C=
c.3583G= (p.Val1195=)
c.3226G= (p.Val1076=)
2g.166228927C>GCA349064582SCN1A-AS1,SCN9Ac.3970G>C (p.Val1324Leu)
c.3814G>C (p.Val1272Leu)
c.3937G>C (p.Val1313Leu)
n.612-19268C>G
c.3583G>C (p.Val1195Leu)
c.3226G>C (p.Val1076Leu)
2g.166228927C>TCA349064583SCN1A-AS1,SCN9Ac.3970G>A (p.Val1324Met)
c.3814G>A (p.Val1272Met)
c.3937G>A (p.Val1313Met)
n.612-19268C>T
c.3583G>A (p.Val1195Met)
c.3226G>A (p.Val1076Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228928A>CCA349064586SCN1A-AS1,SCN9Ac.3969T>G (p.Asn1323Lys)
c.3813T>G (p.Asn1271Lys)
c.3936T>G (p.Asn1312Lys)
n.612-19267A>C
c.3582T>G (p.Asn1194Lys)
c.3225T>G (p.Asn1075Lys)
2g.166228928A>GCA429899411SCN1A-AS1,SCN9Ac.3969T>C (p.Asn1323=)
c.3813T>C (p.Asn1271=)
c.3936T>C (p.Asn1312=)
n.612-19267A>G
c.3582T>C (p.Asn1194=)
c.3225T>C (p.Asn1075=)
2g.166228928A>TCA349064589SCN1A-AS1,SCN9Ac.3969T>A (p.Asn1323Lys)
c.3813T>A (p.Asn1271Lys)
c.3936T>A (p.Asn1312Lys)
n.612-19267A>T
c.3582T>A (p.Asn1194Lys)
c.3225T>A (p.Asn1075Lys)
2g.166228929T>ACA349064598SCN1A-AS1,SCN9Ac.3968A>T (p.Asn1323Ile)
c.3812A>T (p.Asn1271Ile)
c.3935A>T (p.Asn1312Ile)
n.612-19266T>A
c.3581A>T (p.Asn1194Ile)
c.3224A>T (p.Asn1075Ile)
2g.166228929T>CCA349064601SCN1A-AS1,SCN9Ac.3968A>G (p.Asn1323Ser)
c.3812A>G (p.Asn1271Ser)
c.3935A>G (p.Asn1312Ser)
n.612-19266T>C
c.3581A>G (p.Asn1194Ser)
c.3224A>G (p.Asn1075Ser)
 dbSNP
2g.166228929T>GCA349064604SCN1A-AS1,SCN9Ac.3968A>C (p.Asn1323Thr)
c.3812A>C (p.Asn1271Thr)
c.3935A>C (p.Asn1312Thr)
n.612-19266T>G
c.3581A>C (p.Asn1194Thr)
c.3224A>C (p.Asn1075Thr)
2g.166228929T=CA1304943711SCN1A-AS1,SCN9Ac.3968A= (p.Asn1323=)
c.3812A= (p.Asn1271=)
c.3935A= (p.Asn1312=)
n.612-19266T=
c.3581A= (p.Asn1194=)
c.3224A= (p.Asn1075=)
2g.166228930T>ACA349064607SCN1A-AS1,SCN9Ac.3967A>T (p.Asn1323Tyr)
c.3811A>T (p.Asn1271Tyr)
c.3934A>T (p.Asn1312Tyr)
n.612-19265T>A
c.3580A>T (p.Asn1194Tyr)
c.3223A>T (p.Asn1075Tyr)
2g.166228930T>CCA349064608SCN1A-AS1,SCN9Ac.3967A>G (p.Asn1323Asp)
c.3811A>G (p.Asn1271Asp)
c.3934A>G (p.Asn1312Asp)
n.612-19265T>C
c.3580A>G (p.Asn1194Asp)
c.3223A>G (p.Asn1075Asp)
2g.166228930T>GCA349064610SCN1A-AS1,SCN9Ac.3967A>C (p.Asn1323His)
c.3811A>C (p.Asn1271His)
c.3934A>C (p.Asn1312His)
n.612-19265T>G
c.3580A>C (p.Asn1194His)
c.3223A>C (p.Asn1075His)
2g.166228931C>ACA349064638SCN1A-AS1,SCN9Ac.3966G>T (p.Met1322Ile)
c.3810G>T (p.Met1270Ile)
c.3933G>T (p.Met1311Ile)
n.612-19264C>A
c.3579G>T (p.Met1193Ile)
c.3222G>T (p.Met1074Ile)
2g.166228931C>GCA349064619SCN1A-AS1,SCN9Ac.3966G>C (p.Met1322Ile)
c.3810G>C (p.Met1270Ile)
c.3933G>C (p.Met1311Ile)
n.612-19264C>G
c.3579G>C (p.Met1193Ile)
c.3222G>C (p.Met1074Ile)
2g.166228931C>TCA349064616SCN1A-AS1,SCN9Ac.3966G>A (p.Met1322Ile)
c.3810G>A (p.Met1270Ile)
c.3933G>A (p.Met1311Ile)
n.612-19264C>T
c.3579G>A (p.Met1193Ile)
c.3222G>A (p.Met1074Ile)
2g.166228932A>CCA349064646SCN1A-AS1,SCN9Ac.3965T>G (p.Met1322Arg)
c.3809T>G (p.Met1270Arg)
c.3932T>G (p.Met1311Arg)
n.612-19263A>C
c.3578T>G (p.Met1193Arg)
c.3221T>G (p.Met1074Arg)
2g.166228932A>GCA349064651SCN1A-AS1,SCN9Ac.3965T>C (p.Met1322Thr)
c.3809T>C (p.Met1270Thr)
c.3932T>C (p.Met1311Thr)
n.612-19263A>G
c.3578T>C (p.Met1193Thr)
c.3221T>C (p.Met1074Thr)
2g.166228932A>TCA349064649SCN1A-AS1,SCN9Ac.3965T>A (p.Met1322Lys)
c.3809T>A (p.Met1270Lys)
c.3932T>A (p.Met1311Lys)
n.612-19263A>T
c.3578T>A (p.Met1193Lys)
c.3221T>A (p.Met1074Lys)
2g.166228933T>ACA349064654SCN1A-AS1,SCN9Ac.3964A>T (p.Met1322Leu)
c.3808A>T (p.Met1270Leu)
c.3931A>T (p.Met1311Leu)
n.612-19262T>A
c.3577A>T (p.Met1193Leu)
c.3220A>T (p.Met1074Leu)
2g.166228933T>CCA1943971SCN1A-AS1,SCN9Ac.3964A>G (p.Met1322Val)
c.3808A>G (p.Met1270Val)
c.3931A>G (p.Met1311Val)
n.612-19262T>C
c.3577A>G (p.Met1193Val)
c.3220A>G (p.Met1074Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228933T>GCA349064658SCN1A-AS1,SCN9Ac.3964A>C (p.Met1322Leu)
c.3808A>C (p.Met1270Leu)
c.3931A>C (p.Met1311Leu)
n.612-19262T>G
c.3577A>C (p.Met1193Leu)
c.3220A>C (p.Met1074Leu)
2g.166228933T=CA1304943712SCN1A-AS1,SCN9Ac.3964A= (p.Met1322=)
c.3808A= (p.Met1270=)
c.3931A= (p.Met1311=)
n.612-19262T=
c.3577A= (p.Met1193=)
c.3220A= (p.Met1074=)
2g.166228934G>ACA429899417SCN1A-AS1,SCN9Ac.3963C>T (p.Ile1321=)
c.3807C>T (p.Ile1269=)
c.3930C>T (p.Ile1310=)
n.612-19261G>A
c.3576C>T (p.Ile1192=)
c.3219C>T (p.Ile1073=)
2g.166228934G>CCA59810347SCN1A-AS1,SCN9Ac.3963C>G (p.Ile1321Met)
c.3807C>G (p.Ile1269Met)
c.3930C>G (p.Ile1310Met)
n.612-19261G>C
c.3576C>G (p.Ile1192Met)
c.3219C>G (p.Ile1073Met)
 dbSNP gnomAD v4
2g.166228934G=CA1304943713SCN1A-AS1,SCN9Ac.3963C= (p.Ile1321=)
c.3807C= (p.Ile1269=)
c.3930C= (p.Ile1310=)
n.612-19261G=
c.3576C= (p.Ile1192=)
c.3219C= (p.Ile1073=)
2g.166228934G>TCA429899418SCN1A-AS1,SCN9Ac.3963C>A (p.Ile1321=)
c.3807C>A (p.Ile1269=)
c.3930C>A (p.Ile1310=)
n.612-19261G>T
c.3576C>A (p.Ile1192=)
c.3219C>A (p.Ile1073=)
2g.166228935A>CCA349064667SCN1A-AS1,SCN9Ac.3962T>G (p.Ile1321Ser)
c.3806T>G (p.Ile1269Ser)
c.3929T>G (p.Ile1310Ser)
n.612-19260A>C
c.3575T>G (p.Ile1192Ser)
c.3218T>G (p.Ile1073Ser)
2g.166228935A>GCA349064665SCN1A-AS1,SCN9Ac.3962T>C (p.Ile1321Thr)
c.3806T>C (p.Ile1269Thr)
c.3929T>C (p.Ile1310Thr)
n.612-19260A>G
c.3575T>C (p.Ile1192Thr)
c.3218T>C (p.Ile1073Thr)
2g.166228935A>TCA349064671SCN1A-AS1,SCN9Ac.3962T>A (p.Ile1321Asn)
c.3806T>A (p.Ile1269Asn)
c.3929T>A (p.Ile1310Asn)
n.612-19260A>T
c.3575T>A (p.Ile1192Asn)
c.3218T>A (p.Ile1073Asn)
2g.166228936T>ACA349064673SCN1A-AS1,SCN9Ac.3961A>T (p.Ile1321Phe)
c.3805A>T (p.Ile1269Phe)
c.3928A>T (p.Ile1310Phe)
n.612-19259T>A
c.3574A>T (p.Ile1192Phe)
c.3217A>T (p.Ile1073Phe)
 dbSNP
2g.166228936T>CCA349064674SCN1A-AS1,SCN9Ac.3961A>G (p.Ile1321Val)
c.3805A>G (p.Ile1269Val)
c.3928A>G (p.Ile1310Val)
n.612-19259T>C
c.3574A>G (p.Ile1192Val)
c.3217A>G (p.Ile1073Val)
2g.166228936T>GCA349064677SCN1A-AS1,SCN9Ac.3961A>C (p.Ile1321Leu)
c.3805A>C (p.Ile1269Leu)
c.3928A>C (p.Ile1310Leu)
n.612-19259T>G
c.3574A>C (p.Ile1192Leu)
c.3217A>C (p.Ile1073Leu)
2g.166228936T=CA1304943714SCN1A-AS1,SCN9Ac.3961A= (p.Ile1321=)
c.3805A= (p.Ile1269=)
c.3928A= (p.Ile1310=)
n.612-19259T=
c.3574A= (p.Ile1192=)
c.3217A= (p.Ile1073=)
2g.166228937G>ACA429899420SCN1A-AS1,SCN9Ac.3960C>T (p.Ser1320=)
c.3804C>T (p.Ser1268=)
c.3927C>T (p.Ser1309=)
n.612-19258G>A
c.3573C>T (p.Ser1191=)
c.3216C>T (p.Ser1072=)
2g.166228937G>CCA429899422SCN1A-AS1,SCN9Ac.3960C>G (p.Ser1320=)
c.3804C>G (p.Ser1268=)
c.3927C>G (p.Ser1309=)
n.612-19258G>C
c.3573C>G (p.Ser1191=)
c.3216C>G (p.Ser1072=)
2g.166228937G>TCA429899421SCN1A-AS1,SCN9Ac.3960C>A (p.Ser1320=)
c.3804C>A (p.Ser1268=)
c.3927C>A (p.Ser1309=)
n.612-19258G>T
c.3573C>A (p.Ser1191=)
c.3216C>A (p.Ser1072=)
2g.166228938G>ACA349064679SCN1A-AS1,SCN9Ac.3959C>T (p.Ser1320Phe)
c.3803C>T (p.Ser1268Phe)
c.3926C>T (p.Ser1309Phe)
n.612-19257G>A
c.3572C>T (p.Ser1191Phe)
c.3215C>T (p.Ser1072Phe)
2g.166228938G>CCA349064681SCN1A-AS1,SCN9Ac.3959C>G (p.Ser1320Cys)
c.3803C>G (p.Ser1268Cys)
c.3926C>G (p.Ser1309Cys)
n.612-19257G>C
c.3572C>G (p.Ser1191Cys)
c.3215C>G (p.Ser1072Cys)
2g.166228938G>TCA349064683SCN1A-AS1,SCN9Ac.3959C>A (p.Ser1320Tyr)
c.3803C>A (p.Ser1268Tyr)
c.3926C>A (p.Ser1309Tyr)
n.612-19257G>T
c.3572C>A (p.Ser1191Tyr)
c.3215C>A (p.Ser1072Tyr)
2g.166228939A>CCA349064685SCN1A-AS1,SCN9Ac.3958T>G (p.Ser1320Ala)
c.3802T>G (p.Ser1268Ala)
c.3925T>G (p.Ser1309Ala)
n.612-19256A>C
c.3571T>G (p.Ser1191Ala)
c.3214T>G (p.Ser1072Ala)
2g.166228939A>GCA349064686SCN1A-AS1,SCN9Ac.3958T>C (p.Ser1320Pro)
c.3802T>C (p.Ser1268Pro)
c.3925T>C (p.Ser1309Pro)
n.612-19256A>G
c.3571T>C (p.Ser1191Pro)
c.3214T>C (p.Ser1072Pro)
2g.166228939A>TCA349064687SCN1A-AS1,SCN9Ac.3958T>A (p.Ser1320Thr)
c.3802T>A (p.Ser1268Thr)
c.3925T>A (p.Ser1309Thr)
n.612-19256A>T
c.3571T>A (p.Ser1191Thr)
c.3214T>A (p.Ser1072Thr)
2g.166228940A>CCA429899425SCN1A-AS1,SCN9Ac.3957T>G (p.Pro1319=)
c.3801T>G (p.Pro1267=)
c.3924T>G (p.Pro1308=)
n.612-19255A>C
c.3570T>G (p.Pro1190=)
c.3213T>G (p.Pro1071=)
 gnomAD v4
2g.166228940A>GCA429899426SCN1A-AS1,SCN9Ac.3957T>C (p.Pro1319=)
c.3801T>C (p.Pro1267=)
c.3924T>C (p.Pro1308=)
n.612-19255A>G
c.3570T>C (p.Pro1190=)
c.3213T>C (p.Pro1071=)
2g.166228940A>TCA429899427SCN1A-AS1,SCN9Ac.3957T>A (p.Pro1319=)
c.3801T>A (p.Pro1267=)
c.3924T>A (p.Pro1308=)
n.612-19255A>T
c.3570T>A (p.Pro1190=)
c.3213T>A (p.Pro1071=)
2g.166228941G>ACA349064688SCN1A-AS1,SCN9Ac.3956C>T (p.Pro1319Leu)
c.3800C>T (p.Pro1267Leu)
c.3923C>T (p.Pro1308Leu)
n.612-19254G>A
c.3569C>T (p.Pro1190Leu)
c.3212C>T (p.Pro1071Leu)
2g.166228941G>CCA349064689SCN1A-AS1,SCN9Ac.3956C>G (p.Pro1319Arg)
c.3800C>G (p.Pro1267Arg)
c.3923C>G (p.Pro1308Arg)
n.612-19254G>C
c.3569C>G (p.Pro1190Arg)
c.3212C>G (p.Pro1071Arg)
2g.166228941G>TCA349064690SCN1A-AS1,SCN9Ac.3956C>A (p.Pro1319His)
c.3800C>A (p.Pro1267His)
c.3923C>A (p.Pro1308His)
n.612-19254G>T
c.3569C>A (p.Pro1190His)
c.3212C>A (p.Pro1071His)
2g.166228942G>ACA59810349SCN1A-AS1,SCN9Ac.3955C>T (p.Pro1319Ser)
c.3799C>T (p.Pro1267Ser)
c.3922C>T (p.Pro1308Ser)
n.612-19253G>A
c.3568C>T (p.Pro1190Ser)
c.3211C>T (p.Pro1071Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166228942G>CCA349064691SCN1A-AS1,SCN9Ac.3955C>G (p.Pro1319Ala)
c.3799C>G (p.Pro1267Ala)
c.3922C>G (p.Pro1308Ala)
n.612-19253G>C
c.3568C>G (p.Pro1190Ala)
c.3211C>G (p.Pro1071Ala)
2g.166228942G=CA1304943715SCN1A-AS1,SCN9Ac.3955C= (p.Pro1319=)
c.3799C= (p.Pro1267=)
c.3922C= (p.Pro1308=)
n.612-19253G=
c.3568C= (p.Pro1190=)
c.3211C= (p.Pro1071=)
2g.166228942G>TCA349064692SCN1A-AS1,SCN9Ac.3955C>A (p.Pro1319Thr)
c.3799C>A (p.Pro1267Thr)
c.3922C>A (p.Pro1308Thr)
n.612-19253G>T
c.3568C>A (p.Pro1190Thr)
c.3211C>A (p.Pro1071Thr)
2g.166228943A>CCA349064693SCN1A-AS1,SCN9Ac.3954T>G (p.Ile1318Met)
c.3798T>G (p.Ile1266Met)
c.3921T>G (p.Ile1307Met)
n.612-19252A>C
c.3567T>G (p.Ile1189Met)
c.3210T>G (p.Ile1070Met)
2g.166228943A>GCA429899432SCN1A-AS1,SCN9Ac.3954T>C (p.Ile1318=)
c.3798T>C (p.Ile1266=)
c.3921T>C (p.Ile1307=)
n.612-19252A>G
c.3567T>C (p.Ile1189=)
c.3210T>C (p.Ile1070=)
2g.166228943A>TCA429899431SCN1A-AS1,SCN9Ac.3954T>A (p.Ile1318=)
c.3798T>A (p.Ile1266=)
c.3921T>A (p.Ile1307=)
n.612-19252A>T
c.3567T>A (p.Ile1189=)
c.3210T>A (p.Ile1070=)
2g.166228944A>CCA349064694SCN1A-AS1,SCN9Ac.3953T>G (p.Ile1318Ser)
c.3797T>G (p.Ile1266Ser)
c.3920T>G (p.Ile1307Ser)
n.612-19251A>C
c.3566T>G (p.Ile1189Ser)
c.3209T>G (p.Ile1070Ser)
2g.166228944A>GCA349064695SCN1A-AS1,SCN9Ac.3953T>C (p.Ile1318Thr)
c.3797T>C (p.Ile1266Thr)
c.3920T>C (p.Ile1307Thr)
n.612-19251A>G
c.3566T>C (p.Ile1189Thr)
c.3209T>C (p.Ile1070Thr)
2g.166228944A>TCA349064696SCN1A-AS1,SCN9Ac.3953T>A (p.Ile1318Asn)
c.3797T>A (p.Ile1266Asn)
c.3920T>A (p.Ile1307Asn)
n.612-19251A>T
c.3566T>A (p.Ile1189Asn)
c.3209T>A (p.Ile1070Asn)
2g.166228945T>ACA349064697SCN1A-AS1,SCN9Ac.3952A>T (p.Ile1318Phe)
c.3796A>T (p.Ile1266Phe)
c.3919A>T (p.Ile1307Phe)
n.612-19250T>A
c.3565A>T (p.Ile1189Phe)
c.3208A>T (p.Ile1070Phe)
2g.166228945T>CCA349064698SCN1A-AS1,SCN9Ac.3952A>G (p.Ile1318Val)
c.3796A>G (p.Ile1266Val)
c.3919A>G (p.Ile1307Val)
n.612-19250T>C
c.3565A>G (p.Ile1189Val)
c.3208A>G (p.Ile1070Val)
2g.166228945T>GCA349064699SCN1A-AS1,SCN9Ac.3952A>C (p.Ile1318Leu)
c.3796A>C (p.Ile1266Leu)
c.3919A>C (p.Ile1307Leu)
n.612-19250T>G
c.3565A>C (p.Ile1189Leu)
c.3208A>C (p.Ile1070Leu)
2g.166228946T>ACA429899433SCN1A-AS1,SCN9Ac.3951A>T (p.Ala1317=)
c.3795A>T (p.Ala1265=)
c.3918A>T (p.Ala1306=)
n.612-19249T>A
c.3564A>T (p.Ala1188=)
c.3207A>T (p.Ala1069=)
2g.166228946T>CCA429899434SCN1A-AS1,SCN9Ac.3951A>G (p.Ala1317=)
c.3795A>G (p.Ala1265=)
c.3918A>G (p.Ala1306=)
n.612-19249T>C
c.3564A>G (p.Ala1188=)
c.3207A>G (p.Ala1069=)
2g.166228946T>GCA429899435SCN1A-AS1,SCN9Ac.3951A>C (p.Ala1317=)
c.3795A>C (p.Ala1265=)
c.3918A>C (p.Ala1306=)
n.612-19249T>G
c.3564A>C (p.Ala1188=)
c.3207A>C (p.Ala1069=)
2g.166228947G>ACA349064700SCN1A-AS1,SCN9Ac.3950C>T (p.Ala1317Val)
c.3794C>T (p.Ala1265Val)
c.3917C>T (p.Ala1306Val)
n.612-19248G>A
c.3563C>T (p.Ala1188Val)
c.3206C>T (p.Ala1069Val)
2g.166228947G>CCA349064701SCN1A-AS1,SCN9Ac.3950C>G (p.Ala1317Gly)
c.3794C>G (p.Ala1265Gly)
c.3917C>G (p.Ala1306Gly)
n.612-19248G>C
c.3563C>G (p.Ala1188Gly)
c.3206C>G (p.Ala1069Gly)
2g.166228947G>TCA349064702SCN1A-AS1,SCN9Ac.3950C>A (p.Ala1317Glu)
c.3794C>A (p.Ala1265Glu)
c.3917C>A (p.Ala1306Glu)
n.612-19248G>T
c.3563C>A (p.Ala1188Glu)
c.3206C>A (p.Ala1069Glu)
2g.166228948C>ACA349064705SCN1A-AS1,SCN9Ac.3949G>T (p.Ala1317Ser)
c.3793G>T (p.Ala1265Ser)
c.3916G>T (p.Ala1306Ser)
n.612-19247C>A
c.3562G>T (p.Ala1188Ser)
c.3205G>T (p.Ala1069Ser)
2g.166228948C>GCA349064704SCN1A-AS1,SCN9Ac.3949G>C (p.Ala1317Pro)
c.3793G>C (p.Ala1265Pro)
c.3916G>C (p.Ala1306Pro)
n.612-19247C>G
c.3562G>C (p.Ala1188Pro)
c.3205G>C (p.Ala1069Pro)
2g.166228948C>TCA349064703SCN1A-AS1,SCN9Ac.3949G>A (p.Ala1317Thr)
c.3793G>A (p.Ala1265Thr)
c.3916G>A (p.Ala1306Thr)
n.612-19247C>T
c.3562G>A (p.Ala1188Thr)
c.3205G>A (p.Ala1069Thr)
2g.166228949T>ACA429899436SCN1A-AS1,SCN9Ac.3948A>T (p.Gly1316=)
c.3792A>T (p.Gly1264=)
c.3915A>T (p.Gly1305=)
n.612-19246T>A
c.3561A>T (p.Gly1187=)
c.3204A>T (p.Gly1068=)
2g.166228949T>CCA429899437SCN1A-AS1,SCN9Ac.3948A>G (p.Gly1316=)
c.3792A>G (p.Gly1264=)
c.3915A>G (p.Gly1305=)
n.612-19246T>C
c.3561A>G (p.Gly1187=)
c.3204A>G (p.Gly1068=)
 gnomAD v4
2g.166228949T>GCA429899438SCN1A-AS1,SCN9Ac.3948A>C (p.Gly1316=)
c.3792A>C (p.Gly1264=)
c.3915A>C (p.Gly1305=)
n.612-19246T>G
c.3561A>C (p.Gly1187=)
c.3204A>C (p.Gly1068=)
2g.166228950C>ACA349064706SCN1A-AS1,SCN9Ac.3947G>T (p.Gly1316Val)
c.3791G>T (p.Gly1264Val)
c.3914G>T (p.Gly1305Val)
n.612-19245C>A
c.3560G>T (p.Gly1187Val)
c.3203G>T (p.Gly1068Val)
2g.166228950C>GCA349064708SCN1A-AS1,SCN9Ac.3947G>C (p.Gly1316Ala)
c.3791G>C (p.Gly1264Ala)
c.3914G>C (p.Gly1305Ala)
n.612-19245C>G
c.3560G>C (p.Gly1187Ala)
c.3203G>C (p.Gly1068Ala)
2g.166228950C>TCA349064711SCN1A-AS1,SCN9Ac.3947G>A (p.Gly1316Glu)
c.3791G>A (p.Gly1264Glu)
c.3914G>A (p.Gly1305Glu)
n.612-19245C>T
c.3560G>A (p.Gly1187Glu)
c.3203G>A (p.Gly1068Glu)
 gnomAD v4
2g.166228951C>ACA349064714SCN1A-AS1,SCN9Ac.3946G>T (p.Gly1316Ter)
c.3790G>T (p.Gly1264Ter)
c.3913G>T (p.Gly1305Ter)
n.612-19244C>A
c.3559G>T (p.Gly1187Ter)
c.3202G>T (p.Gly1068Ter)
 dbSNP
2g.166228951C=CA1304943716SCN1A-AS1,SCN9Ac.3946G= (p.Gly1316=)
c.3790G= (p.Gly1264=)
c.3913G= (p.Gly1305=)
n.612-19244C=
c.3559G= (p.Gly1187=)
c.3202G= (p.Gly1068=)
2g.166228951C>GCA349064715SCN1A-AS1,SCN9Ac.3946G>C (p.Gly1316Arg)
c.3790G>C (p.Gly1264Arg)
c.3913G>C (p.Gly1305Arg)
n.612-19244C>G
c.3559G>C (p.Gly1187Arg)
c.3202G>C (p.Gly1068Arg)
2g.166228951C>TCA349064716SCN1A-AS1,SCN9Ac.3946G>A (p.Gly1316Arg)
c.3790G>A (p.Gly1264Arg)
c.3913G>A (p.Gly1305Arg)
n.612-19244C>T
c.3559G>A (p.Gly1187Arg)
c.3202G>A (p.Gly1068Arg)
 COSMIC COSMIC
2g.166228952T>ACA429899440SCN1A-AS1,SCN9Ac.3945A>T (p.Ile1315=)
c.3789A>T (p.Ile1263=)
c.3912A>T (p.Ile1304=)
n.612-19243T>A
c.3558A>T (p.Ile1186=)
c.3201A>T (p.Ile1067=)
2g.166228952T>CCA349064717SCN1A-AS1,SCN9Ac.3945A>G (p.Ile1315Met)
c.3789A>G (p.Ile1263Met)
c.3912A>G (p.Ile1304Met)
n.612-19243T>C
c.3558A>G (p.Ile1186Met)
c.3201A>G (p.Ile1067Met)
2g.166228952T>GCA429899439SCN1A-AS1,SCN9Ac.3945A>C (p.Ile1315=)
c.3789A>C (p.Ile1263=)
c.3912A>C (p.Ile1304=)
n.612-19243T>G
c.3558A>C (p.Ile1186=)
c.3201A>C (p.Ile1067=)
2g.166228953A=CA1304943717SCN1A-AS1,SCN9Ac.3944T= (p.Ile1315=)
c.3788T= (p.Ile1263=)
c.3911T= (p.Ile1304=)
n.612-19242A=
c.3557T= (p.Ile1186=)
c.3200T= (p.Ile1067=)
2g.166228953A>CCA349064719SCN1A-AS1,SCN9Ac.3944T>G (p.Ile1315Arg)
c.3788T>G (p.Ile1263Arg)
c.3911T>G (p.Ile1304Arg)
n.612-19242A>C
c.3557T>G (p.Ile1186Arg)
c.3200T>G (p.Ile1067Arg)
2g.166228953A>GCA1943972SCN1A-AS1,SCN9Ac.3944T>C (p.Ile1315Thr)
c.3788T>C (p.Ile1263Thr)
c.3911T>C (p.Ile1304Thr)
n.612-19242A>G
c.3557T>C (p.Ile1186Thr)
c.3200T>C (p.Ile1067Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228953A>TCA349064725SCN1A-AS1,SCN9Ac.3944T>A (p.Ile1315Lys)
c.3788T>A (p.Ile1263Lys)
c.3911T>A (p.Ile1304Lys)
n.612-19242A>T
c.3557T>A (p.Ile1186Lys)
c.3200T>A (p.Ile1067Lys)
2g.166228954T>ACA349064729SCN1A-AS1,SCN9Ac.3943A>T (p.Ile1315Leu)
c.3787A>T (p.Ile1263Leu)
c.3910A>T (p.Ile1304Leu)
n.612-19241T>A
c.3556A>T (p.Ile1186Leu)
c.3199A>T (p.Ile1067Leu)
2g.166228954T>CCA349064731SCN1A-AS1,SCN9Ac.3943A>G (p.Ile1315Val)
c.3787A>G (p.Ile1263Val)
c.3910A>G (p.Ile1304Val)
n.612-19241T>C
c.3556A>G (p.Ile1186Val)
c.3199A>G (p.Ile1067Val)
 dbSNP gnomAD v3 gnomAD v4
2g.166228954T>GCA349064734SCN1A-AS1,SCN9Ac.3943A>C (p.Ile1315Leu)
c.3787A>C (p.Ile1263Leu)
c.3910A>C (p.Ile1304Leu)
n.612-19241T>G
c.3556A>C (p.Ile1186Leu)
c.3199A>C (p.Ile1067Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.166228954T=CA1304943718SCN1A-AS1,SCN9Ac.3943A= (p.Ile1315=)
c.3787A= (p.Ile1263=)
c.3910A= (p.Ile1304=)
n.612-19241T=
c.3556A= (p.Ile1186=)
c.3199A= (p.Ile1067=)
2g.166228955G>ACA429899441SCN1A-AS1,SCN9Ac.3942C>T (p.Leu1314=)
c.3786C>T (p.Leu1262=)
c.3909C>T (p.Leu1303=)
n.612-19240G>A
c.3555C>T (p.Leu1185=)
c.3198C>T (p.Leu1066=)
 dbSNP
2g.166228955G>CCA429899442SCN1A-AS1,SCN9Ac.3942C>G (p.Leu1314=)
c.3786C>G (p.Leu1262=)
c.3909C>G (p.Leu1303=)
n.612-19240G>C
c.3555C>G (p.Leu1185=)
c.3198C>G (p.Leu1066=)
2g.166228955G=CA1304943719SCN1A-AS1,SCN9Ac.3942C= (p.Leu1314=)
c.3786C= (p.Leu1262=)
c.3909C= (p.Leu1303=)
n.612-19240G=
c.3555C= (p.Leu1185=)
c.3198C= (p.Leu1066=)
2g.166228955G>TCA429899443SCN1A-AS1,SCN9Ac.3942C>A (p.Leu1314=)
c.3786C>A (p.Leu1262=)
c.3909C>A (p.Leu1303=)
n.612-19240G>T
c.3555C>A (p.Leu1185=)
c.3198C>A (p.Leu1066=)
2g.166228956A>CCA349064741SCN1A-AS1,SCN9Ac.3941T>G (p.Leu1314Arg)
c.3785T>G (p.Leu1262Arg)
c.3908T>G (p.Leu1303Arg)
n.612-19239A>C
c.3554T>G (p.Leu1185Arg)
c.3197T>G (p.Leu1066Arg)
2g.166228956A>GCA349064750SCN1A-AS1,SCN9Ac.3941T>C (p.Leu1314Pro)
c.3785T>C (p.Leu1262Pro)
c.3908T>C (p.Leu1303Pro)
n.612-19239A>G
c.3554T>C (p.Leu1185Pro)
c.3197T>C (p.Leu1066Pro)
2g.166228956A>TCA349064745SCN1A-AS1,SCN9Ac.3941T>A (p.Leu1314His)
c.3785T>A (p.Leu1262His)
c.3908T>A (p.Leu1303His)
n.612-19239A>T
c.3554T>A (p.Leu1185His)
c.3197T>A (p.Leu1066His)
2g.166228956_166228957insTCA2661765424SCN1A-AS1,SCN9Ac.3940_3941insA (p.Leu1314HisfsTer?)
c.3784_3785insA (p.Leu1262HisfsTer?)
c.3907_3908insA (p.Leu1303HisfsTer?)
n.612-19239_612-19238insT
c.3553_3554insA (p.Leu1185HisfsTer?)
c.3196_3197insA (p.Leu1066HisfsTer?)
 gnomAD v4
2g.166228957G>ACA349064753SCN1A-AS1,SCN9Ac.3940C>T (p.Leu1314Phe)
c.3784C>T (p.Leu1262Phe)
c.3907C>T (p.Leu1303Phe)
n.612-19238G>A
c.3553C>T (p.Leu1185Phe)
c.3196C>T (p.Leu1066Phe)
 gnomAD v4
2g.166228957G>CCA349064758SCN1A-AS1,SCN9Ac.3940C>G (p.Leu1314Val)
c.3784C>G (p.Leu1262Val)
c.3907C>G (p.Leu1303Val)
n.612-19238G>C
c.3553C>G (p.Leu1185Val)
c.3196C>G (p.Leu1066Val)
 gnomAD v4
2g.166228957G>TCA349064761SCN1A-AS1,SCN9Ac.3940C>A (p.Leu1314Ile)
c.3784C>A (p.Leu1262Ile)
c.3907C>A (p.Leu1303Ile)
n.612-19238G>T
c.3553C>A (p.Leu1185Ile)
c.3196C>A (p.Leu1066Ile)
2g.166228958T>ACA429899444SCN1A-AS1,SCN9Ac.3939A>T (p.Ala1313=)
c.3783A>T (p.Ala1261=)
c.3906A>T (p.Ala1302=)
n.612-19237T>A
c.3552A>T (p.Ala1184=)
c.3195A>T (p.Ala1065=)
 gnomAD v4
2g.166228958T>CCA429899445SCN1A-AS1,SCN9Ac.3939A>G (p.Ala1313=)
c.3783A>G (p.Ala1261=)
c.3906A>G (p.Ala1302=)
n.612-19237T>C
c.3552A>G (p.Ala1184=)
c.3195A>G (p.Ala1065=)
2g.166228958T>GCA429899446SCN1A-AS1,SCN9Ac.3939A>C (p.Ala1313=)
c.3783A>C (p.Ala1261=)
c.3906A>C (p.Ala1302=)
n.612-19237T>G
c.3552A>C (p.Ala1184=)
c.3195A>C (p.Ala1065=)
2g.166228959G>ACA349064765SCN1A-AS1,SCN9Ac.3938C>T (p.Ala1313Val)
c.3782C>T (p.Ala1261Val)
c.3905C>T (p.Ala1302Val)
n.612-19236G>A
c.3551C>T (p.Ala1184Val)
c.3194C>T (p.Ala1065Val)
 gnomAD v4
2g.166228959G>CCA349064766SCN1A-AS1,SCN9Ac.3938C>G (p.Ala1313Gly)
c.3782C>G (p.Ala1261Gly)
c.3905C>G (p.Ala1302Gly)
n.612-19236G>C
c.3551C>G (p.Ala1184Gly)
c.3194C>G (p.Ala1065Gly)
2g.166228959G>TCA349064770SCN1A-AS1,SCN9Ac.3938C>A (p.Ala1313Glu)
c.3782C>A (p.Ala1261Glu)
c.3905C>A (p.Ala1302Glu)
n.612-19236G>T
c.3551C>A (p.Ala1184Glu)
c.3194C>A (p.Ala1065Glu)
2g.166228960C>ACA349064773SCN1A-AS1,SCN9Ac.3937G>T (p.Ala1313Ser)
c.3781G>T (p.Ala1261Ser)
c.3904G>T (p.Ala1302Ser)
n.612-19235C>A
c.3550G>T (p.Ala1184Ser)
c.3193G>T (p.Ala1065Ser)
2g.166228960C=CA1304943720SCN1A-AS1,SCN9Ac.3937G= (p.Ala1313=)
c.3781G= (p.Ala1261=)
c.3904G= (p.Ala1302=)
n.612-19235C=
c.3550G= (p.Ala1184=)
c.3193G= (p.Ala1065=)
2g.166228960C>GCA349064775SCN1A-AS1,SCN9Ac.3937G>C (p.Ala1313Pro)
c.3781G>C (p.Ala1261Pro)
c.3904G>C (p.Ala1302Pro)
n.612-19235C>G
c.3550G>C (p.Ala1184Pro)
c.3193G>C (p.Ala1065Pro)
2g.166228960C>TCA349064778SCN1A-AS1,SCN9Ac.3937G>A (p.Ala1313Thr)
c.3781G>A (p.Ala1261Thr)
c.3904G>A (p.Ala1302Thr)
n.612-19235C>T
c.3550G>A (p.Ala1184Thr)
c.3193G>A (p.Ala1065Thr)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.166228961A>CCA349064780SCN1A-AS1,SCN9Ac.3936T>G (p.Asn1312Lys)
c.3780T>G (p.Asn1260Lys)
c.3903T>G (p.Asn1301Lys)
n.612-19234A>C
c.3549T>G (p.Asn1183Lys)
c.3192T>G (p.Asn1064Lys)
2g.166228961A>GCA429899447SCN1A-AS1,SCN9Ac.3936T>C (p.Asn1312=)
c.3780T>C (p.Asn1260=)
c.3903T>C (p.Asn1301=)
n.612-19234A>G
c.3549T>C (p.Asn1183=)
c.3192T>C (p.Asn1064=)
2g.166228961A>TCA349064782SCN1A-AS1,SCN9Ac.3936T>A (p.Asn1312Lys)
c.3780T>A (p.Asn1260Lys)
c.3903T>A (p.Asn1301Lys)
n.612-19234A>T
c.3549T>A (p.Asn1183Lys)
c.3192T>A (p.Asn1064Lys)
2g.166228962T>ACA349064785SCN1A-AS1,SCN9Ac.3935A>T (p.Asn1312Ile)
c.3779A>T (p.Asn1260Ile)
c.3902A>T (p.Asn1301Ile)
n.612-19233T>A
c.3548A>T (p.Asn1183Ile)
c.3191A>T (p.Asn1064Ile)
2g.166228962T>CCA349064787SCN1A-AS1,SCN9Ac.3935A>G (p.Asn1312Ser)
c.3779A>G (p.Asn1260Ser)
c.3902A>G (p.Asn1301Ser)
n.612-19233T>C
c.3548A>G (p.Asn1183Ser)
c.3191A>G (p.Asn1064Ser)
2g.166228962T>GCA349064784SCN1A-AS1,SCN9Ac.3935A>C (p.Asn1312Thr)
c.3779A>C (p.Asn1260Thr)
c.3902A>C (p.Asn1301Thr)
n.612-19233T>G
c.3548A>C (p.Asn1183Thr)
c.3191A>C (p.Asn1064Thr)
2g.166228963T>ACA349064793SCN1A-AS1,SCN9Ac.3934A>T (p.Asn1312Tyr)
c.3778A>T (p.Asn1260Tyr)
c.3901A>T (p.Asn1301Tyr)
n.612-19232T>A
c.3547A>T (p.Asn1183Tyr)
c.3190A>T (p.Asn1064Tyr)
2g.166228963T>CCA349064791SCN1A-AS1,SCN9Ac.3934A>G (p.Asn1312Asp)
c.3778A>G (p.Asn1260Asp)
c.3901A>G (p.Asn1301Asp)
n.612-19232T>C
c.3547A>G (p.Asn1183Asp)
c.3190A>G (p.Asn1064Asp)
 ClinVar
2g.166228963T>GCA349064792SCN1A-AS1,SCN9Ac.3934A>C (p.Asn1312His)
c.3778A>C (p.Asn1260His)
c.3901A>C (p.Asn1301His)
n.612-19232T>G
c.3547A>C (p.Asn1183His)
c.3190A>C (p.Asn1064His)
2g.166228964C>ACA429899448SCN1A-AS1,SCN9Ac.3933G>T (p.Val1311=)
c.3777G>T (p.Val1259=)
c.3900G>T (p.Val1300=)
n.612-19231C>A
c.3546G>T (p.Val1182=)
c.3189G>T (p.Val1063=)
 gnomAD v4
2g.166228964C>GCA429899449SCN1A-AS1,SCN9Ac.3933G>C (p.Val1311=)
c.3777G>C (p.Val1259=)
c.3900G>C (p.Val1300=)
n.612-19231C>G
c.3546G>C (p.Val1182=)
c.3189G>C (p.Val1063=)
2g.166228964C>TCA429899450SCN1A-AS1,SCN9Ac.3933G>A (p.Val1311=)
c.3777G>A (p.Val1259=)
c.3900G>A (p.Val1300=)
n.612-19231C>T
c.3546G>A (p.Val1182=)
c.3189G>A (p.Val1063=)
2g.166228965A>CCA349064796SCN1A-AS1,SCN9Ac.3932T>G (p.Val1311Gly)
c.3776T>G (p.Val1259Gly)
c.3899T>G (p.Val1300Gly)
n.612-19230A>C
c.3545T>G (p.Val1182Gly)
c.3188T>G (p.Val1063Gly)
 COSMIC COSMIC
2g.166228965A>GCA349064798SCN1A-AS1,SCN9Ac.3932T>C (p.Val1311Ala)
c.3776T>C (p.Val1259Ala)
c.3899T>C (p.Val1300Ala)
n.612-19230A>G
c.3545T>C (p.Val1182Ala)
c.3188T>C (p.Val1063Ala)
2g.166228965A>TCA349064800SCN1A-AS1,SCN9Ac.3932T>A (p.Val1311Glu)
c.3776T>A (p.Val1259Glu)
c.3899T>A (p.Val1300Glu)
n.612-19230A>T
c.3545T>A (p.Val1182Glu)
c.3188T>A (p.Val1063Glu)
2g.166228967_166228969delCA2586970373SCN1A-AS1,SCN9Ac.3930_3932del (p.Val1311del)
c.3774_3776del (p.Val1259del)
c.3897_3899del (p.Val1300del)
n.612-19228_612-19226del
c.3543_3545del (p.Val1182del)
c.3186_3188del (p.Val1063del)
2g.166228966C>ACA349064802SCN1A-AS1,SCN9Ac.3931G>T (p.Val1311Leu)
c.3775G>T (p.Val1259Leu)
c.3898G>T (p.Val1300Leu)
n.612-19229C>A
c.3544G>T (p.Val1182Leu)
c.3187G>T (p.Val1063Leu)
2g.166228966C=CA1304943721SCN1A-AS1,SCN9Ac.3931G= (p.Val1311=)
c.3775G= (p.Val1259=)
c.3898G= (p.Val1300=)
n.612-19229C=
c.3544G= (p.Val1182=)
c.3187G= (p.Val1063=)
2g.166228966C>GCA59810355SCN1A-AS1,SCN9Ac.3931G>C (p.Val1311Leu)
c.3775G>C (p.Val1259Leu)
c.3898G>C (p.Val1300Leu)
n.612-19229C>G
c.3544G>C (p.Val1182Leu)
c.3187G>C (p.Val1063Leu)
 dbSNP gnomAD v4
2g.166228966C>TCA1943973SCN1A-AS1,SCN9Ac.3931G>A (p.Val1311Met)
c.3775G>A (p.Val1259Met)
c.3898G>A (p.Val1300Met)
n.612-19229C>T
c.3544G>A (p.Val1182Met)
c.3187G>A (p.Val1063Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228967A>CCA429899451SCN1A-AS1,SCN9Ac.3930T>G (p.Val1310=)
c.3774T>G (p.Val1258=)
c.3897T>G (p.Val1299=)
n.612-19228A>C
c.3543T>G (p.Val1181=)
c.3186T>G (p.Val1062=)
2g.166228967A>GCA429899452SCN1A-AS1,SCN9Ac.3930T>C (p.Val1310=)
c.3774T>C (p.Val1258=)
c.3897T>C (p.Val1299=)
n.612-19228A>G
c.3543T>C (p.Val1181=)
c.3186T>C (p.Val1062=)
2g.166228967A>TCA429899453SCN1A-AS1,SCN9Ac.3930T>A (p.Val1310=)
c.3774T>A (p.Val1258=)
c.3897T>A (p.Val1299=)
n.612-19228A>T
c.3543T>A (p.Val1181=)
c.3186T>A (p.Val1062=)
2g.166228968A>CCA349064805SCN1A-AS1,SCN9Ac.3929T>G (p.Val1310Gly)
c.3773T>G (p.Val1258Gly)
c.3896T>G (p.Val1299Gly)
n.612-19227A>C
c.3542T>G (p.Val1181Gly)
c.3185T>G (p.Val1062Gly)
2g.166228968A>GCA349064806SCN1A-AS1,SCN9Ac.3929T>C (p.Val1310Ala)
c.3773T>C (p.Val1258Ala)
c.3896T>C (p.Val1299Ala)
n.612-19227A>G
c.3542T>C (p.Val1181Ala)
c.3185T>C (p.Val1062Ala)
2g.166228968A>TCA349064807SCN1A-AS1,SCN9Ac.3929T>A (p.Val1310Asp)
c.3773T>A (p.Val1258Asp)
c.3896T>A (p.Val1299Asp)
n.612-19227A>T
c.3542T>A (p.Val1181Asp)
c.3185T>A (p.Val1062Asp)
2g.166228969C>ACA118149SCN1A-AS1,SCN9Ac.3928G>T (p.Val1310Phe)
c.3772G>T (p.Val1258Phe)
c.3895G>T (p.Val1299Phe)
n.612-19226C>A
c.3541G>T (p.Val1181Phe)
c.3184G>T (p.Val1062Phe)
 ClinVar dbSNP gnomAD v4
2g.166228969C=CA1304943722SCN1A-AS1,SCN9Ac.3928G= (p.Val1310=)
c.3772G= (p.Val1258=)
c.3895G= (p.Val1299=)
n.612-19226C=
c.3541G= (p.Val1181=)
c.3184G= (p.Val1062=)
2g.166228969C>GCA349064809SCN1A-AS1,SCN9Ac.3928G>C (p.Val1310Leu)
c.3772G>C (p.Val1258Leu)
c.3895G>C (p.Val1299Leu)
n.612-19226C>G
c.3541G>C (p.Val1181Leu)
c.3184G>C (p.Val1062Leu)
 gnomAD v4
2g.166228969C>TCA349064811SCN1A-AS1,SCN9Ac.3928G>A (p.Val1310Ile)
c.3772G>A (p.Val1258Ile)
c.3895G>A (p.Val1299Ile)
n.612-19226C>T
c.3541G>A (p.Val1181Ile)
c.3184G>A (p.Val1062Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228970G>ACA1943974SCN1A-AS1,SCN9Ac.3927C>T (p.Val1309=)
c.3771C>T (p.Val1257=)
c.3894C>T (p.Val1298=)
n.612-19225G>A
c.3540C>T (p.Val1180=)
c.3183C>T (p.Val1061=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228970G>CCA429899454SCN1A-AS1,SCN9Ac.3927C>G (p.Val1309=)
c.3771C>G (p.Val1257=)
c.3894C>G (p.Val1298=)
n.612-19225G>C
c.3540C>G (p.Val1180=)
c.3183C>G (p.Val1061=)
2g.166228970G=CA1304943723SCN1A-AS1,SCN9Ac.3927C= (p.Val1309=)
c.3771C= (p.Val1257=)
c.3894C= (p.Val1298=)
n.612-19225G=
c.3540C= (p.Val1180=)
c.3183C= (p.Val1061=)
2g.166228970G>TCA429899455SCN1A-AS1,SCN9Ac.3927C>A (p.Val1309=)
c.3771C>A (p.Val1257=)
c.3894C>A (p.Val1298=)
n.612-19225G>T
c.3540C>A (p.Val1180=)
c.3183C>A (p.Val1061=)
 gnomAD v4
2g.166228971A=CA1304943724SCN1A-AS1,SCN9Ac.3926T= (p.Val1309=)
c.3770T= (p.Val1257=)
c.3893T= (p.Val1298=)
n.612-19224A=
c.3539T= (p.Val1180=)
c.3182T= (p.Val1061=)
2g.166228971A>CCA349064812SCN1A-AS1,SCN9Ac.3926T>G (p.Val1309Gly)
c.3770T>G (p.Val1257Gly)
c.3893T>G (p.Val1298Gly)
n.612-19224A>C
c.3539T>G (p.Val1180Gly)
c.3182T>G (p.Val1061Gly)
2g.166228971A>GCA349064813SCN1A-AS1,SCN9Ac.3926T>C (p.Val1309Ala)
c.3770T>C (p.Val1257Ala)
c.3893T>C (p.Val1298Ala)
n.612-19224A>G
c.3539T>C (p.Val1180Ala)
c.3182T>C (p.Val1061Ala)
2g.166228971A>TCA118143SCN1A-AS1,SCN9Ac.3926T>A (p.Val1309Asp)
c.3770T>A (p.Val1257Asp)
c.3893T>A (p.Val1298Asp)
n.612-19224A>T
c.3539T>A (p.Val1180Asp)
c.3182T>A (p.Val1061Asp)
 ClinVar dbSNP
2g.166228972C>ACA118146SCN1A-AS1,SCN9Ac.3925G>T (p.Val1309Phe)
c.3769G>T (p.Val1257Phe)
c.3892G>T (p.Val1298Phe)
n.612-19223C>A
c.3538G>T (p.Val1180Phe)
c.3181G>T (p.Val1061Phe)
 ClinVar dbSNP gnomAD v4
2g.166228972C=CA1304943725SCN1A-AS1,SCN9Ac.3925G= (p.Val1309=)
c.3769G= (p.Val1257=)
c.3892G= (p.Val1298=)
n.612-19223C=
c.3538G= (p.Val1180=)
c.3181G= (p.Val1061=)
2g.166228972C>GCA349064820SCN1A-AS1,SCN9Ac.3925G>C (p.Val1309Leu)
c.3769G>C (p.Val1257Leu)
c.3892G>C (p.Val1298Leu)
n.612-19223C>G
c.3538G>C (p.Val1180Leu)
c.3181G>C (p.Val1061Leu)
2g.166228972C>TCA349064822SCN1A-AS1,SCN9Ac.3925G>A (p.Val1309Ile)
c.3769G>A (p.Val1257Ile)
c.3892G>A (p.Val1298Ile)
n.612-19223C>T
c.3538G>A (p.Val1180Ile)
c.3181G>A (p.Val1061Ile)
 dbSNP gnomAD v4
2g.166228973C>ACA349064826SCN1A-AS1,SCN9Ac.3925-1G>T (n.3925-1G>T)
c.3769-1G>T (n.3769-1G>T)
c.3892-1G>T (n.3892-1G>T)
n.612-19222C>A
c.3538-1G>T (n.3538-1G>T)
c.3181-1G>T (n.3181-1G>T)
2g.166228973C>GCA349064830SCN1A-AS1,SCN9Ac.3925-1G>C (n.3925-1G>C)
c.3769-1G>C (n.3769-1G>C)
c.3892-1G>C (n.3892-1G>C)
n.612-19222C>G
c.3538-1G>C (n.3538-1G>C)
c.3181-1G>C (n.3181-1G>C)
2g.166228973C>TCA349064833SCN1A-AS1,SCN9Ac.3925-1G>A (n.3925-1G>A)
c.3769-1G>A (n.3769-1G>A)
c.3892-1G>A (n.3892-1G>A)
n.612-19222C>T
c.3538-1G>A (n.3538-1G>A)
c.3181-1G>A (n.3181-1G>A)
2g.166228974T>ACA349064837SCN1A-AS1,SCN9Ac.3925-2A>T (n.3925-2A>T)
c.3769-2A>T (n.3769-2A>T)
c.3892-2A>T (n.3892-2A>T)
n.612-19221T>A
c.3538-2A>T (n.3538-2A>T)
c.3181-2A>T (n.3181-2A>T)
2g.166228974T>CCA59810366SCN1A-AS1,SCN9Ac.3925-2A>G (n.3925-2A>G)
c.3769-2A>G (n.3769-2A>G)
c.3892-2A>G (n.3892-2A>G)
n.612-19221T>C
c.3538-2A>G (n.3538-2A>G)
c.3181-2A>G (n.3181-2A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.166228974T>GCA349064855SCN1A-AS1,SCN9Ac.3925-2A>C (n.3925-2A>C)
c.3769-2A>C (n.3769-2A>C)
c.3892-2A>C (n.3892-2A>C)
n.612-19221T>G
c.3538-2A>C (n.3538-2A>C)
c.3181-2A>C (n.3181-2A>C)
2g.166228974T=CA1304943726SCN1A-AS1,SCN9Ac.3925-2A= (n.3925-2A=)
c.3769-2A= (n.3769-2A=)
c.3892-2A= (n.3892-2A=)
n.612-19221T=
c.3538-2A= (n.3538-2A=)
c.3181-2A= (n.3181-2A=)
2g.166228975A=CA1304943727SCN1A-AS1,SCN9Ac.3925-3T= (n.3925-3T=)
c.3769-3T= (n.3769-3T=)
c.3892-3T= (n.3892-3T=)
n.612-19220A=
c.3538-3T= (n.3538-3T=)
c.3181-3T= (n.3181-3T=)
2g.166228975A>CCA1943975SCN1A-AS1,SCN9Ac.3925-3T>G (n.3925-3T>G)
c.3769-3T>G (n.3769-3T>G)
c.3892-3T>G (n.3892-3T>G)
n.612-19220A>C
c.3538-3T>G (n.3538-3T>G)
c.3181-3T>G (n.3181-3T>G)
 dbSNP ExAC
2g.166228975A>GCA537511448SCN1A-AS1,SCN9Ac.3925-3T>C (n.3925-3T>C)
c.3769-3T>C (n.3769-3T>C)
c.3892-3T>C (n.3892-3T>C)
n.612-19220A>G
c.3538-3T>C (n.3538-3T>C)
c.3181-3T>C (n.3181-3T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.166228976G>ACA915942951SCN1A-AS1,SCN9Ac.3925-4C>T (n.3925-4C>T)
c.3769-4C>T (n.3769-4C>T)
c.3892-4C>T (n.3892-4C>T)
n.612-19219G>A
c.3538-4C>T (n.3538-4C>T)
c.3181-4C>T (n.3181-4C>T)
 ClinVar dbSNP
2g.166228976G=CA1304943728SCN1A-AS1,SCN9Ac.3925-4C= (n.3925-4C=)
c.3769-4C= (n.3769-4C=)
c.3892-4C= (n.3892-4C=)
n.612-19219G=
c.3538-4C= (n.3538-4C=)
c.3181-4C= (n.3181-4C=)
2g.166228978A>GCA2661765425SCN1A-AS1,SCN9Ac.3925-6T>C (n.3925-6T>C)
c.3769-6T>C (n.3769-6T>C)
c.3892-6T>C (n.3892-6T>C)
n.612-19217A>G
c.3538-6T>C (n.3538-6T>C)
c.3181-6T>C (n.3181-6T>C)
 gnomAD v4
2g.166228981C>ACA2661765426SCN1A-AS1,SCN9Ac.3925-9G>T (n.3925-9G>T)
c.3769-9G>T (n.3769-9G>T)
c.3892-9G>T (n.3892-9G>T)
n.612-19214C>A
c.3538-9G>T (n.3538-9G>T)
c.3181-9G>T (n.3181-9G>T)
 gnomAD v4
2g.166228981C=CA1304943730SCN1A-AS1,SCN9Ac.3925-9G= (n.3925-9G=)
c.3769-9G= (n.3769-9G=)
c.3892-9G= (n.3892-9G=)
n.612-19214C=
c.3538-9G= (n.3538-9G=)
c.3181-9G= (n.3181-9G=)
2g.166228981C>TCA1943976SCN1A-AS1,SCN9Ac.3925-9G>A (n.3925-9G>A)
c.3769-9G>A (n.3769-9G>A)
c.3892-9G>A (n.3892-9G>A)
n.612-19214C>T
c.3538-9G>A (n.3538-9G>A)
c.3181-9G>A (n.3181-9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228981_166228982delinsCACA1304943729SCN1A-AS1,SCN9Ac.3925-10_3925-9delinsTG (n.3925-10_3925-9delinsTG)
c.3769-10_3769-9delinsTG (n.3769-10_3769-9delinsTG)
c.3892-10_3892-9delinsTG (n.3892-10_3892-9delinsTG)
n.612-19214_612-19213delinsCA
c.3538-10_3538-9delinsTG (n.3538-10_3538-9delinsTG)
c.3181-10_3181-9delinsTG (n.3181-10_3181-9delinsTG)
2g.166228982A=CA1304943731SCN1A-AS1,SCN9Ac.3925-10T= (n.3925-10T=)
c.3769-10T= (n.3769-10T=)
c.3892-10T= (n.3892-10T=)
n.612-19213A=
c.3538-10T= (n.3538-10T=)
c.3181-10T= (n.3181-10T=)
2g.166228982A>CCA2577144849SCN1A-AS1,SCN9Ac.3925-10T>G (n.3925-10T>G)
c.3769-10T>G (n.3769-10T>G)
c.3892-10T>G (n.3892-10T>G)
n.612-19213A>C
c.3538-10T>G (n.3538-10T>G)
c.3181-10T>G (n.3181-10T>G)
 gnomAD v4
2g.166228982A>GCA59810372SCN1A-AS1,SCN9Ac.3925-10T>C (n.3925-10T>C)
c.3769-10T>C (n.3769-10T>C)
c.3892-10T>C (n.3892-10T>C)
n.612-19213A>G
c.3538-10T>C (n.3538-10T>C)
c.3181-10T>C (n.3181-10T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228985delCA916701068SCN1A-AS1,SCN9Ac.3925-10del (n.3925-10del)
c.3769-10del (n.3769-10del)
c.3892-10del (n.3892-10del)
n.612-19210del
c.3538-10del (n.3538-10del)
c.3181-10del (n.3181-10del)
 dbSNP
2g.166228983A=CA1304943732SCN1A-AS1,SCN9Ac.3925-11T= (n.3925-11T=)
c.3769-11T= (n.3769-11T=)
c.3892-11T= (n.3892-11T=)
n.612-19212A=
c.3538-11T= (n.3538-11T=)
c.3181-11T= (n.3181-11T=)
2g.166228983A>CCA1943977SCN1A-AS1,SCN9Ac.3925-11T>G (n.3925-11T>G)
c.3769-11T>G (n.3769-11T>G)
c.3892-11T>G (n.3892-11T>G)
n.612-19212A>C
c.3538-11T>G (n.3538-11T>G)
c.3181-11T>G (n.3181-11T>G)
 dbSNP ExAC gnomAD v4
2g.166228985A=CA1304943733SCN1A-AS1,SCN9Ac.3925-13T= (n.3925-13T=)
c.3769-13T= (n.3769-13T=)
c.3892-13T= (n.3892-13T=)
n.612-19210A=
c.3538-13T= (n.3538-13T=)
c.3181-13T= (n.3181-13T=)
2g.166228985A>GCA10611653SCN1A-AS1,SCN9Ac.3925-13T>C (n.3925-13T>C)
c.3769-13T>C (n.3769-13T>C)
c.3892-13T>C (n.3892-13T>C)
n.612-19210A>G
c.3538-13T>C (n.3538-13T>C)
c.3181-13T>C (n.3181-13T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228986G>ACA2753023379SCN1A-AS1,SCN9Ac.3925-14C>T (n.3925-14C>T)
c.3769-14C>T (n.3769-14C>T)
c.3892-14C>T (n.3892-14C>T)
n.612-19209G>A
c.3538-14C>T (n.3538-14C>T)
c.3181-14C>T (n.3181-14C>T)
2g.166228987A>GCA2661765427SCN1A-AS1,SCN9Ac.3925-15T>C (n.3925-15T>C)
c.3769-15T>C (n.3769-15T>C)
c.3892-15T>C (n.3892-15T>C)
n.612-19208A>G
c.3538-15T>C (n.3538-15T>C)
c.3181-15T>C (n.3181-15T>C)
 gnomAD v4
2g.166228989A=CA1304943734SCN1A-AS1,SCN9Ac.3925-17T= (n.3925-17T=)
c.3769-17T= (n.3769-17T=)
c.3892-17T= (n.3892-17T=)
n.612-19206A=
c.3538-17T= (n.3538-17T=)
c.3181-17T= (n.3181-17T=)
2g.166228989A>GCA59810378SCN1A-AS1,SCN9Ac.3925-17T>C (n.3925-17T>C)
c.3769-17T>C (n.3769-17T>C)
c.3892-17T>C (n.3892-17T>C)
n.612-19206A>G
c.3538-17T>C (n.3538-17T>C)
c.3181-17T>C (n.3181-17T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228990G>ACA2753023380SCN1A-AS1,SCN9Ac.3925-18C>T (n.3925-18C>T)
c.3769-18C>T (n.3769-18C>T)
c.3892-18C>T (n.3892-18C>T)
n.612-19205G>A
c.3538-18C>T (n.3538-18C>T)
c.3181-18C>T (n.3181-18C>T)
2g.166228992A=CA1304943735SCN1A-AS1,SCN9Ac.3925-20T= (n.3925-20T=)
c.3769-20T= (n.3769-20T=)
c.3892-20T= (n.3892-20T=)
n.612-19203A=
c.3538-20T= (n.3538-20T=)
c.3181-20T= (n.3181-20T=)
2g.166228992A>CCA1038866105SCN1A-AS1,SCN9Ac.3925-20T>G (n.3925-20T>G)
c.3769-20T>G (n.3769-20T>G)
c.3892-20T>G (n.3892-20T>G)
n.612-19203A>C
c.3538-20T>G (n.3538-20T>G)
c.3181-20T>G (n.3181-20T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.166228992A>GCA2661765428SCN1A-AS1,SCN9Ac.3925-20T>C (n.3925-20T>C)
c.3769-20T>C (n.3769-20T>C)
c.3892-20T>C (n.3892-20T>C)
n.612-19203A>G
c.3538-20T>C (n.3538-20T>C)
c.3181-20T>C (n.3181-20T>C)
 gnomAD v4
2g.166228992_166228993insCCAAACACACCCAACACCA2753023381SCN1A-AS1,SCN9Ac.3925-21_3925-20insGTGTTGGGTGTGTTTGG (n.3925-21_3925-20insGTGTTGGGTGTGTTTGG)
c.3769-21_3769-20insGTGTTGGGTGTGTTTGG (n.3769-21_3769-20insGTGTTGGGTGTGTTTGG)
c.3892-21_3892-20insGTGTTGGGTGTGTTTGG (n.3892-21_3892-20insGTGTTGGGTGTGTTTGG)
n.612-19203_612-19202insCCAAACACACCCAACAC
c.3538-21_3538-20insGTGTTGGGTGTGTTTGG (n.3538-21_3538-20insGTGTTGGGTGTGTTTGG)
c.3181-21_3181-20insGTGTTGGGTGTGTTTGG (n.3181-21_3181-20insGTGTTGGGTGTGTTTGG)
2g.166228995G>ACA2577144850SCN1A-AS1,SCN9Ac.3925-23C>T (n.3925-23C>T)
c.3769-23C>T (n.3769-23C>T)
c.3892-23C>T (n.3892-23C>T)
n.612-19200G>A
c.3538-23C>T (n.3538-23C>T)
c.3181-23C>T (n.3181-23C>T)
 gnomAD v4
2g.166228995G>TCA2661765429SCN1A-AS1,SCN9Ac.3925-23C>A (n.3925-23C>A)
c.3769-23C>A (n.3769-23C>A)
c.3892-23C>A (n.3892-23C>A)
n.612-19200G>T
c.3538-23C>A (n.3538-23C>A)
c.3181-23C>A (n.3181-23C>A)
 gnomAD v4
2g.166228996C>ACA2661765430SCN1A-AS1,SCN9Ac.3925-24G>T (n.3925-24G>T)
c.3769-24G>T (n.3769-24G>T)
c.3892-24G>T (n.3892-24G>T)
n.612-19199C>A
c.3538-24G>T (n.3538-24G>T)
c.3181-24G>T (n.3181-24G>T)
 gnomAD v4
2g.166228997A=CA1304943736SCN1A-AS1,SCN9Ac.3925-25T= (n.3925-25T=)
c.3769-25T= (n.3769-25T=)
c.3892-25T= (n.3892-25T=)
n.612-19198A=
c.3538-25T= (n.3538-25T=)
c.3181-25T= (n.3181-25T=)
2g.166228997A>GCA1943978SCN1A-AS1,SCN9Ac.3925-25T>C (n.3925-25T>C)
c.3769-25T>C (n.3769-25T>C)
c.3892-25T>C (n.3892-25T>C)
n.612-19198A>G
c.3538-25T>C (n.3538-25T>C)
c.3181-25T>C (n.3181-25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228998T>CCA2577144851SCN1A-AS1,SCN9Ac.3925-26A>G (n.3925-26A>G)
c.3769-26A>G (n.3769-26A>G)
c.3892-26A>G (n.3892-26A>G)
n.612-19197T>C
c.3538-26A>G (n.3538-26A>G)
c.3181-26A>G (n.3181-26A>G)
2g.166228999G>ACA59810382SCN1A-AS1,SCN9Ac.3925-27C>T (n.3925-27C>T)
c.3769-27C>T (n.3769-27C>T)
c.3892-27C>T (n.3892-27C>T)
n.612-19196G>A
c.3538-27C>T (n.3538-27C>T)
c.3181-27C>T (n.3181-27C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.166228999G=CA1304943737SCN1A-AS1,SCN9Ac.3925-27C= (n.3925-27C=)
c.3769-27C= (n.3769-27C=)
c.3892-27C= (n.3892-27C=)
n.612-19196G=
c.3538-27C= (n.3538-27C=)
c.3181-27C= (n.3181-27C=)
2g.166228999G>TCA2661765431SCN1A-AS1,SCN9Ac.3925-27C>A (n.3925-27C>A)
c.3769-27C>A (n.3769-27C>A)
c.3892-27C>A (n.3892-27C>A)
n.612-19196G>T
c.3538-27C>A (n.3538-27C>A)
c.3181-27C>A (n.3181-27C>A)
 gnomAD v4
2g.166229000A=CA1304943738SCN1A-AS1,SCN9Ac.3925-28T= (n.3925-28T=)
c.3769-28T= (n.3769-28T=)
c.3892-28T= (n.3892-28T=)
n.612-19195A=
c.3538-28T= (n.3538-28T=)
c.3181-28T= (n.3181-28T=)
2g.166229000A>CCA537511449SCN1A-AS1,SCN9Ac.3925-28T>G (n.3925-28T>G)
c.3769-28T>G (n.3769-28T>G)
c.3892-28T>G (n.3892-28T>G)
n.612-19195A>C
c.3538-28T>G (n.3538-28T>G)
c.3181-28T>G (n.3181-28T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.166229000A>GCA59810383SCN1A-AS1,SCN9Ac.3925-28T>C (n.3925-28T>C)
c.3769-28T>C (n.3769-28T>C)
c.3892-28T>C (n.3892-28T>C)
n.612-19195A>G
c.3538-28T>C (n.3538-28T>C)
c.3181-28T>C (n.3181-28T>C)
 dbSNP gnomAD v4
2g.166229002delCA2577144852SCN1A-AS1,SCN9Ac.3925-29del (n.3925-29del)
c.3769-29del (n.3769-29del)
c.3892-29del (n.3892-29del)
n.612-19193del
c.3538-29del (n.3538-29del)
c.3181-29del (n.3181-29del)
 gnomAD v4
2g.166229003A=CA1304943739SCN1A-AS1,SCN9Ac.3925-31T= (n.3925-31T=)
c.3769-31T= (n.3769-31T=)
c.3892-31T= (n.3892-31T=)
n.612-19192A=
c.3538-31T= (n.3538-31T=)
c.3181-31T= (n.3181-31T=)
2g.166229003A>GCA537511450SCN1A-AS1,SCN9Ac.3925-31T>C (n.3925-31T>C)
c.3769-31T>C (n.3769-31T>C)
c.3892-31T>C (n.3892-31T>C)
n.612-19192A>G
c.3538-31T>C (n.3538-31T>C)
c.3181-31T>C (n.3181-31T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166229004G>ACA537511451SCN1A-AS1,SCN9Ac.3925-32C>T (n.3925-32C>T)
c.3769-32C>T (n.3769-32C>T)
c.3892-32C>T (n.3892-32C>T)
n.612-19191G>A
c.3538-32C>T (n.3538-32C>T)
c.3181-32C>T (n.3181-32C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.166229004G>CCA2753023384SCN1A-AS1,SCN9Ac.3925-32C>G (n.3925-32C>G)
c.3769-32C>G (n.3769-32C>G)
c.3892-32C>G (n.3892-32C>G)
n.612-19191G>C
c.3538-32C>G (n.3538-32C>G)
c.3181-32C>G (n.3181-32C>G)
2g.166229004G=CA1304943740SCN1A-AS1,SCN9Ac.3925-32C= (n.3925-32C=)
c.3769-32C= (n.3769-32C=)
c.3892-32C= (n.3892-32C=)
n.612-19191G=
c.3538-32C= (n.3538-32C=)
c.3181-32C= (n.3181-32C=)
2g.166229004G>TCA2661765432SCN1A-AS1,SCN9Ac.3925-32C>A (n.3925-32C>A)
c.3769-32C>A (n.3769-32C>A)
c.3892-32C>A (n.3892-32C>A)
n.612-19191G>T
c.3538-32C>A (n.3538-32C>A)
c.3181-32C>A (n.3181-32C>A)
 gnomAD v4
2g.166229005G>ACA2577144853SCN1A-AS1,SCN9Ac.3925-33C>T (n.3925-33C>T)
c.3769-33C>T (n.3769-33C>T)
c.3892-33C>T (n.3892-33C>T)
n.612-19190G>A
c.3538-33C>T (n.3538-33C>T)
c.3181-33C>T (n.3181-33C>T)
2g.166229005G>TCA2661765433SCN1A-AS1,SCN9Ac.3925-33C>A (n.3925-33C>A)
c.3769-33C>A (n.3769-33C>A)
c.3892-33C>A (n.3892-33C>A)
n.612-19190G>T
c.3538-33C>A (n.3538-33C>A)
c.3181-33C>A (n.3181-33C>A)
 gnomAD v4
2g.166229006A>GCA2661765434SCN1A-AS1,SCN9Ac.3925-34T>C (n.3925-34T>C)
c.3769-34T>C (n.3769-34T>C)
c.3892-34T>C (n.3892-34T>C)
n.612-19189A>G
c.3538-34T>C (n.3538-34T>C)
c.3181-34T>C (n.3181-34T>C)
 gnomAD v4
2g.166229006A>TCA2661765435SCN1A-AS1,SCN9Ac.3925-34T>A (n.3925-34T>A)
c.3769-34T>A (n.3769-34T>A)
c.3892-34T>A (n.3892-34T>A)
n.612-19189A>T
c.3538-34T>A (n.3538-34T>A)
c.3181-34T>A (n.3181-34T>A)
 gnomAD v4
2g.166229008delCA2661765436SCN1A-AS1,SCN9Ac.3925-35del (n.3925-35del)
c.3769-35del (n.3769-35del)
c.3892-35del (n.3892-35del)
n.612-19187del
c.3538-35del (n.3538-35del)
c.3181-35del (n.3181-35del)
 gnomAD v4
2g.166229009A=CA1304943741SCN1A-AS1,SCN9Ac.3925-37T= (n.3925-37T=)
c.3769-37T= (n.3769-37T=)
c.3892-37T= (n.3892-37T=)
n.612-19186A=
c.3538-37T= (n.3538-37T=)
c.3181-37T= (n.3181-37T=)
2g.166229009A>CCA1943979SCN1A-AS1,SCN9Ac.3925-37T>G (n.3925-37T>G)
c.3769-37T>G (n.3769-37T>G)
c.3892-37T>G (n.3892-37T>G)
n.612-19186A>C
c.3538-37T>G (n.3538-37T>G)
c.3181-37T>G (n.3181-37T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166229009A>GCA2661765437SCN1A-AS1,SCN9Ac.3925-37T>C (n.3925-37T>C)
c.3769-37T>C (n.3769-37T>C)
c.3892-37T>C (n.3892-37T>C)
n.612-19186A>G
c.3538-37T>C (n.3538-37T>C)
c.3181-37T>C (n.3181-37T>C)
 gnomAD v4
2g.166229010G>ACA1304943743SCN1A-AS1,SCN9Ac.3925-38C>T (n.3925-38C>T)
c.3769-38C>T (n.3769-38C>T)
c.3892-38C>T (n.3892-38C>T)
n.612-19185G>A
c.3538-38C>T (n.3538-38C>T)
c.3181-38C>T (n.3181-38C>T)
 dbSNP gnomAD v4
2g.166229010G=CA1304943742SCN1A-AS1,SCN9Ac.3925-38C= (n.3925-38C=)
c.3769-38C= (n.3769-38C=)
c.3892-38C= (n.3892-38C=)
n.612-19185G=
c.3538-38C= (n.3538-38C=)
c.3181-38C= (n.3181-38C=)
2g.166229010G>TCA2661765438SCN1A-AS1,SCN9Ac.3925-38C>A (n.3925-38C>A)
c.3769-38C>A (n.3769-38C>A)
c.3892-38C>A (n.3892-38C>A)
n.612-19185G>T
c.3538-38C>A (n.3538-38C>A)
c.3181-38C>A (n.3181-38C>A)
 gnomAD v4
2g.166229011T>GCA537511452SCN1A-AS1,SCN9Ac.3925-39A>C (n.3925-39A>C)
c.3769-39A>C (n.3769-39A>C)
c.3892-39A>C (n.3892-39A>C)
n.612-19184T>G
c.3538-39A>C (n.3538-39A>C)
c.3181-39A>C (n.3181-39A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.166229011T=CA1304943744SCN1A-AS1,SCN9Ac.3925-39A= (n.3925-39A=)
c.3769-39A= (n.3769-39A=)
c.3892-39A= (n.3892-39A=)
n.612-19184T=
c.3538-39A= (n.3538-39A=)
c.3181-39A= (n.3181-39A=)
2g.166229013delCA2661765439SCN1A-AS1,SCN9Ac.3925-40del (n.3925-40del)
c.3769-40del (n.3769-40del)
c.3892-40del (n.3892-40del)
n.612-19182del
c.3538-40del (n.3538-40del)
c.3181-40del (n.3181-40del)
 gnomAD v4
2g.166229013A>CCA2661765440SCN1A-AS1,SCN9Ac.3925-41T>G (n.3925-41T>G)
c.3769-41T>G (n.3769-41T>G)
c.3892-41T>G (n.3892-41T>G)
n.612-19182A>C
c.3538-41T>G (n.3538-41T>G)
c.3181-41T>G (n.3181-41T>G)
 gnomAD v4
2g.166229014G>ACA537511453SCN1A-AS1,SCN9Ac.3925-42C>T (n.3925-42C>T)
c.3769-42C>T (n.3769-42C>T)
c.3892-42C>T (n.3892-42C>T)
n.612-19181G>A
c.3538-42C>T (n.3538-42C>T)
c.3181-42C>T (n.3181-42C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.166229014G=CA1304943745SCN1A-AS1,SCN9Ac.3925-42C= (n.3925-42C=)
c.3769-42C= (n.3769-42C=)
c.3892-42C= (n.3892-42C=)
n.612-19181G=
c.3538-42C= (n.3538-42C=)
c.3181-42C= (n.3181-42C=)
2g.166229014G>TCA2661765441SCN1A-AS1,SCN9Ac.3925-42C>A (n.3925-42C>A)
c.3769-42C>A (n.3769-42C>A)
c.3892-42C>A (n.3892-42C>A)
n.612-19181G>T
c.3538-42C>A (n.3538-42C>A)
c.3181-42C>A (n.3181-42C>A)
 gnomAD v4

Number of alleles fetched