Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166242562A>CCA429901312SCN1A-AS1,SCN9Ac.3567T>G (p.Val1189=)
c.3534T>G (p.Val1178=)
n.612-5633A>C
c.3180T>G (p.Val1060=)
c.2823T>G (p.Val941=)
2g.166242562A>GCA429901313SCN1A-AS1,SCN9Ac.3567T>C (p.Val1189=)
c.3534T>C (p.Val1178=)
n.612-5633A>G
c.3180T>C (p.Val1060=)
c.2823T>C (p.Val941=)
2g.166242562A>TCA429901315SCN1A-AS1,SCN9Ac.3567T>A (p.Val1189=)
c.3534T>A (p.Val1178=)
n.612-5633A>T
c.3180T>A (p.Val1060=)
c.2823T>A (p.Val941=)
2g.166242563A=CA1304945623SCN1A-AS1,SCN9Ac.3566T= (p.Val1189=)
c.3533T= (p.Val1178=)
n.612-5632A=
c.3179T= (p.Val1060=)
c.2822T= (p.Val941=)
2g.166242563A>CCA1944029SCN1A-AS1,SCN9Ac.3566T>G (p.Val1189Gly)
c.3533T>G (p.Val1178Gly)
n.612-5632A>C
c.3179T>G (p.Val1060Gly)
c.2822T>G (p.Val941Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242563A>GCA349070277SCN1A-AS1,SCN9Ac.3566T>C (p.Val1189Ala)
c.3533T>C (p.Val1178Ala)
n.612-5632A>G
c.3179T>C (p.Val1060Ala)
c.2822T>C (p.Val941Ala)
 gnomAD v4
2g.166242563A>TCA349070278SCN1A-AS1,SCN9Ac.3566T>A (p.Val1189Asp)
c.3533T>A (p.Val1178Asp)
n.612-5632A>T
c.3179T>A (p.Val1060Asp)
c.2822T>A (p.Val941Asp)
2g.166242564C>ACA349070279SCN1A-AS1,SCN9Ac.3565G>T (p.Val1189Phe)
c.3532G>T (p.Val1178Phe)
n.612-5631C>A
c.3178G>T (p.Val1060Phe)
c.2821G>T (p.Val941Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.166242564C=CA1304945626SCN1A-AS1,SCN9Ac.3565G= (p.Val1189=)
c.3532G= (p.Val1178=)
n.612-5631C=
c.3178G= (p.Val1060=)
c.2821G= (p.Val941=)
2g.166242564C>GCA349070280SCN1A-AS1,SCN9Ac.3565G>C (p.Val1189Leu)
c.3532G>C (p.Val1178Leu)
n.612-5631C>G
c.3178G>C (p.Val1060Leu)
c.2821G>C (p.Val941Leu)
2g.166242564C>TCA349070282SCN1A-AS1,SCN9Ac.3565G>A (p.Val1189Ile)
c.3532G>A (p.Val1178Ile)
n.612-5631C>T
c.3178G>A (p.Val1060Ile)
c.2821G>A (p.Val941Ile)
 gnomAD v4
2g.166242565A>CCA349070284SCN1A-AS1,SCN9Ac.3564T>G (p.Ile1188Met)
c.3531T>G (p.Ile1177Met)
n.612-5630A>C
c.3177T>G (p.Ile1059Met)
c.2820T>G (p.Ile940Met)
2g.166242565A>GCA429901318SCN1A-AS1,SCN9Ac.3564T>C (p.Ile1188=)
c.3531T>C (p.Ile1177=)
n.612-5630A>G
c.3177T>C (p.Ile1059=)
c.2820T>C (p.Ile940=)
 gnomAD v4
2g.166242565A>TCA429901320SCN1A-AS1,SCN9Ac.3564T>A (p.Ile1188=)
c.3531T>A (p.Ile1177=)
n.612-5630A>T
c.3177T>A (p.Ile1059=)
c.2820T>A (p.Ile940=)
2g.166242566A=CA1304945627SCN1A-AS1,SCN9Ac.3563T= (p.Ile1188=)
c.3530T= (p.Ile1177=)
n.612-5629A=
c.3176T= (p.Ile1059=)
c.2819T= (p.Ile940=)
2g.166242566A>CCA349070287SCN1A-AS1,SCN9Ac.3563T>G (p.Ile1188Ser)
c.3530T>G (p.Ile1177Ser)
n.612-5629A>C
c.3176T>G (p.Ile1059Ser)
c.2819T>G (p.Ile940Ser)
2g.166242566A>GCA349070289SCN1A-AS1,SCN9Ac.3563T>C (p.Ile1188Thr)
c.3530T>C (p.Ile1177Thr)
n.612-5629A>G
c.3176T>C (p.Ile1059Thr)
c.2819T>C (p.Ile940Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242566A>TCA349070292SCN1A-AS1,SCN9Ac.3563T>A (p.Ile1188Asn)
c.3530T>A (p.Ile1177Asn)
n.612-5629A>T
c.3176T>A (p.Ile1059Asn)
c.2819T>A (p.Ile940Asn)
2g.166242567T>ACA349070294SCN1A-AS1,SCN9Ac.3562A>T (p.Ile1188Phe)
c.3529A>T (p.Ile1177Phe)
n.612-5628T>A
c.3175A>T (p.Ile1059Phe)
c.2818A>T (p.Ile940Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242567T>CCA349070295SCN1A-AS1,SCN9Ac.3562A>G (p.Ile1188Val)
c.3529A>G (p.Ile1177Val)
n.612-5628T>C
c.3175A>G (p.Ile1059Val)
c.2818A>G (p.Ile940Val)
2g.166242567T>GCA349070296SCN1A-AS1,SCN9Ac.3562A>C (p.Ile1188Leu)
c.3529A>C (p.Ile1177Leu)
n.612-5628T>G
c.3175A>C (p.Ile1059Leu)
c.2818A>C (p.Ile940Leu)
2g.166242567T=CA1304945628SCN1A-AS1,SCN9Ac.3562A= (p.Ile1188=)
c.3529A= (p.Ile1177=)
n.612-5628T=
c.3175A= (p.Ile1059=)
c.2818A= (p.Ile940=)
2g.166242568C>ACA349070298SCN1A-AS1,SCN9Ac.3561G>T (p.Lys1187Asn)
c.3528G>T (p.Lys1176Asn)
n.612-5627C>A
c.3174G>T (p.Lys1058Asn)
c.2817G>T (p.Lys939Asn)
 gnomAD v4
2g.166242568C=CA1304945630SCN1A-AS1,SCN9Ac.3561G= (p.Lys1187=)
c.3528G= (p.Lys1176=)
n.612-5627C=
c.3174G= (p.Lys1058=)
c.2817G= (p.Lys939=)
2g.166242568C>GCA1944030SCN1A-AS1,SCN9Ac.3561G>C (p.Lys1187Asn)
c.3528G>C (p.Lys1176Asn)
n.612-5627C>G
c.3174G>C (p.Lys1058Asn)
c.2817G>C (p.Lys939Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242568C>TCA429901325SCN1A-AS1,SCN9Ac.3561G>A (p.Lys1187=)
c.3528G>A (p.Lys1176=)
n.612-5627C>T
c.3174G>A (p.Lys1058=)
c.2817G>A (p.Lys939=)
2g.166242569T>ACA349070303SCN1A-AS1,SCN9Ac.3560A>T (p.Lys1187Met)
c.3527A>T (p.Lys1176Met)
n.612-5626T>A
c.3173A>T (p.Lys1058Met)
c.2816A>T (p.Lys939Met)
2g.166242569T>CCA349070305SCN1A-AS1,SCN9Ac.3560A>G (p.Lys1187Arg)
c.3527A>G (p.Lys1176Arg)
n.612-5626T>C
c.3173A>G (p.Lys1058Arg)
c.2816A>G (p.Lys939Arg)
2g.166242569T>GCA349070306SCN1A-AS1,SCN9Ac.3560A>C (p.Lys1187Thr)
c.3527A>C (p.Lys1176Thr)
n.612-5626T>G
c.3173A>C (p.Lys1058Thr)
c.2816A>C (p.Lys939Thr)
2g.166242570T>ACA349070311SCN1A-AS1,SCN9Ac.3559A>T (p.Lys1187Ter)
c.3526A>T (p.Lys1176Ter)
n.612-5625T>A
c.3172A>T (p.Lys1058Ter)
c.2815A>T (p.Lys939Ter)
 dbSNP
2g.166242570T>CCA349070313SCN1A-AS1,SCN9Ac.3559A>G (p.Lys1187Glu)
c.3526A>G (p.Lys1176Glu)
n.612-5625T>C
c.3172A>G (p.Lys1058Glu)
c.2815A>G (p.Lys939Glu)
2g.166242570T>GCA349070315SCN1A-AS1,SCN9Ac.3559A>C (p.Lys1187Gln)
c.3526A>C (p.Lys1176Gln)
n.612-5625T>G
c.3172A>C (p.Lys1058Gln)
c.2815A>C (p.Lys939Gln)
2g.166242570T=CA1304945632SCN1A-AS1,SCN9Ac.3559A= (p.Lys1187=)
c.3526A= (p.Lys1176=)
n.612-5625T=
c.3172A= (p.Lys1058=)
c.2815A= (p.Lys939=)
2g.166242571G>ACA429901328SCN1A-AS1,SCN9Ac.3558C>T (p.Tyr1186=)
c.3525C>T (p.Tyr1175=)
n.612-5624G>A
c.3171C>T (p.Tyr1057=)
c.2814C>T (p.Tyr938=)
 gnomAD v4
2g.166242571G>CCA349070319SCN1A-AS1,SCN9Ac.3558C>G (p.Tyr1186Ter)
c.3525C>G (p.Tyr1175Ter)
n.612-5624G>C
c.3171C>G (p.Tyr1057Ter)
c.2814C>G (p.Tyr938Ter)
2g.166242571G>TCA349070322SCN1A-AS1,SCN9Ac.3558C>A (p.Tyr1186Ter)
c.3525C>A (p.Tyr1175Ter)
n.612-5624G>T
c.3171C>A (p.Tyr1057Ter)
c.2814C>A (p.Tyr938Ter)
 gnomAD v4
2g.166242572T>ACA349070324SCN1A-AS1,SCN9Ac.3557A>T (p.Tyr1186Phe)
c.3524A>T (p.Tyr1175Phe)
n.612-5623T>A
c.3170A>T (p.Tyr1057Phe)
c.2813A>T (p.Tyr938Phe)
2g.166242572T>CCA349070326SCN1A-AS1,SCN9Ac.3557A>G (p.Tyr1186Cys)
c.3524A>G (p.Tyr1175Cys)
n.612-5623T>C
c.3170A>G (p.Tyr1057Cys)
c.2813A>G (p.Tyr938Cys)
2g.166242572T>GCA349070328SCN1A-AS1,SCN9Ac.3557A>C (p.Tyr1186Ser)
c.3524A>C (p.Tyr1175Ser)
n.612-5623T>G
c.3170A>C (p.Tyr1057Ser)
c.2813A>C (p.Tyr938Ser)
2g.166242573A=CA1304945634SCN1A-AS1,SCN9Ac.3556T= (p.Tyr1186=)
c.3523T= (p.Tyr1175=)
n.612-5622A=
c.3169T= (p.Tyr1057=)
c.2812T= (p.Tyr938=)
2g.166242573A>CCA349070335SCN1A-AS1,SCN9Ac.3556T>G (p.Tyr1186Asp)
c.3523T>G (p.Tyr1175Asp)
n.612-5622A>C
c.3169T>G (p.Tyr1057Asp)
c.2812T>G (p.Tyr938Asp)
2g.166242573A>GCA349070334SCN1A-AS1,SCN9Ac.3556T>C (p.Tyr1186His)
c.3523T>C (p.Tyr1175His)
n.612-5622A>G
c.3169T>C (p.Tyr1057His)
c.2812T>C (p.Tyr938His)
 dbSNP
2g.166242573A>TCA349070332SCN1A-AS1,SCN9Ac.3556T>A (p.Tyr1186Asn)
c.3523T>A (p.Tyr1175Asn)
n.612-5622A>T
c.3169T>A (p.Tyr1057Asn)
c.2812T>A (p.Tyr938Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242574G>ACA429901332SCN1A-AS1,SCN9Ac.3555C>T (p.Cys1185=)
c.3522C>T (p.Cys1174=)
n.612-5621G>A
c.3168C>T (p.Cys1056=)
c.2811C>T (p.Cys937=)
2g.166242574G>CCA349070340SCN1A-AS1,SCN9Ac.3555C>G (p.Cys1185Trp)
c.3522C>G (p.Cys1174Trp)
n.612-5621G>C
c.3168C>G (p.Cys1056Trp)
c.2811C>G (p.Cys937Trp)
2g.166242574G=CA1304945638SCN1A-AS1,SCN9Ac.3555C= (p.Cys1185=)
c.3522C= (p.Cys1174=)
n.612-5621G=
c.3168C= (p.Cys1056=)
c.2811C= (p.Cys937=)
2g.166242574G>TCA349070337SCN1A-AS1,SCN9Ac.3555C>A (p.Cys1185Ter)
c.3522C>A (p.Cys1174Ter)
n.612-5621G>T
c.3168C>A (p.Cys1056Ter)
c.2811C>A (p.Cys937Ter)
 dbSNP gnomAD v4
2g.166242575C>ACA349070342SCN1A-AS1,SCN9Ac.3554G>T (p.Cys1185Phe)
c.3521G>T (p.Cys1174Phe)
c.2255G>T
n.612-5620C>A
c.3167G>T (p.Cys1056Phe)
c.2810G>T (p.Cys937Phe)
 gnomAD v4
2g.166242575C>GCA349070344SCN1A-AS1,SCN9Ac.3554G>C (p.Cys1185Ser)
c.3521G>C (p.Cys1174Ser)
c.2255G>C
n.612-5620C>G
c.3167G>C (p.Cys1056Ser)
c.2810G>C (p.Cys937Ser)
2g.166242575C>TCA349070345SCN1A-AS1,SCN9Ac.3554G>A (p.Cys1185Tyr)
c.3521G>A (p.Cys1174Tyr)
c.2255G>A
n.612-5620C>T
c.3167G>A (p.Cys1056Tyr)
c.2810G>A (p.Cys937Tyr)
2g.166242576A>CCA349070348SCN1A-AS1,SCN9Ac.3553T>G (p.Cys1185Gly)
c.3520T>G (p.Cys1174Gly)
c.2254T>G
n.612-5619A>C
c.3166T>G (p.Cys1056Gly)
c.2809T>G (p.Cys937Gly)
 gnomAD v4
2g.166242576A>GCA349070352SCN1A-AS1,SCN9Ac.3553T>C (p.Cys1185Arg)
c.3520T>C (p.Cys1174Arg)
c.2254T>C
n.612-5619A>G
c.3166T>C (p.Cys1056Arg)
c.2809T>C (p.Cys937Arg)
2g.166242576A>TCA349070355SCN1A-AS1,SCN9Ac.3553T>A (p.Cys1185Ser)
c.3520T>A (p.Cys1174Ser)
c.2254T>A
n.612-5619A>T
c.3166T>A (p.Cys1056Ser)
c.2809T>A (p.Cys937Ser)
2g.166242577G>ACA429901336SCN1A-AS1,SCN9Ac.3552C>T (p.Thr1184=)
c.3519C>T (p.Thr1173=)
c.2253C>T
n.612-5618G>A
c.3165C>T (p.Thr1055=)
c.2808C>T (p.Thr936=)
 gnomAD v4
2g.166242577G>CCA429901335SCN1A-AS1,SCN9Ac.3552C>G (p.Thr1184=)
c.3519C>G (p.Thr1173=)
c.2253C>G
n.612-5618G>C
c.3165C>G (p.Thr1055=)
c.2808C>G (p.Thr936=)
 dbSNP
2g.166242577G=CA1304945640SCN1A-AS1,SCN9Ac.3552C= (p.Thr1184=)
c.3519C= (p.Thr1173=)
c.2253C=
n.612-5618G=
c.3165C= (p.Thr1055=)
c.2808C= (p.Thr936=)
2g.166242577G>TCA429901334SCN1A-AS1,SCN9Ac.3552C>A (p.Thr1184=)
c.3519C>A (p.Thr1173=)
c.2253C>A
n.612-5618G>T
c.3165C>A (p.Thr1055=)
c.2808C>A (p.Thr936=)
 gnomAD v4
2g.166242578G>ACA349070356SCN1A-AS1,SCN9Ac.3551C>T (p.Thr1184Ile)
c.3518C>T (p.Thr1173Ile)
c.2252C>T
n.612-5617G>A
c.3164C>T (p.Thr1055Ile)
c.2807C>T (p.Thr936Ile)
2g.166242578G>CCA349070357SCN1A-AS1,SCN9Ac.3551C>G (p.Thr1184Ser)
c.3518C>G (p.Thr1173Ser)
c.2252C>G
n.612-5617G>C
c.3164C>G (p.Thr1055Ser)
c.2807C>G (p.Thr936Ser)
2g.166242578G>TCA349070359SCN1A-AS1,SCN9Ac.3551C>A (p.Thr1184Asn)
c.3518C>A (p.Thr1173Asn)
c.2252C>A
n.612-5617G>T
c.3164C>A (p.Thr1055Asn)
c.2807C>A (p.Thr936Asn)
2g.166242579T>ACA349070362SCN1A-AS1,SCN9Ac.3550A>T (p.Thr1184Ser)
c.3517A>T (p.Thr1173Ser)
c.2251A>T
n.612-5616T>A
c.3163A>T (p.Thr1055Ser)
c.2806A>T (p.Thr936Ser)
2g.166242579T>CCA349070364SCN1A-AS1,SCN9Ac.3550A>G (p.Thr1184Ala)
c.3517A>G (p.Thr1173Ala)
c.2251A>G
n.612-5616T>C
c.3163A>G (p.Thr1055Ala)
c.2806A>G (p.Thr936Ala)
2g.166242579T>GCA349070366SCN1A-AS1,SCN9Ac.3550A>C (p.Thr1184Pro)
c.3517A>C (p.Thr1173Pro)
c.2251A>C
n.612-5616T>G
c.3163A>C (p.Thr1055Pro)
c.2806A>C (p.Thr936Pro)
 COSMIC COSMIC
2g.166242582delCA2580064325SCN1A-AS1,SCN9Ac.3550del (p.Thr1184ProfsTer18)
c.3517del (p.Thr1173ProfsTer18)
c.2251del
n.612-5613del
c.3163del (p.Thr1055ProfsTer18)
c.2806del (p.Thr936ProfsTer18)
 ClinVar gnomAD v4
2g.166242580T>ACA349070370SCN1A-AS1,SCN9Ac.3549A>T (p.Lys1183Asn)
c.3516A>T (p.Lys1172Asn)
c.2250A>T
n.612-5615T>A
c.3162A>T (p.Lys1054Asn)
c.2805A>T (p.Lys935Asn)
2g.166242580T>CCA429901339SCN1A-AS1,SCN9Ac.3549A>G (p.Lys1183=)
c.3516A>G (p.Lys1172=)
c.2250A>G
n.612-5615T>C
c.3162A>G (p.Lys1054=)
c.2805A>G (p.Lys935=)
 gnomAD v4
2g.166242580T>GCA349070368SCN1A-AS1,SCN9Ac.3549A>C (p.Lys1183Asn)
c.3516A>C (p.Lys1172Asn)
c.2250A>C
n.612-5615T>G
c.3162A>C (p.Lys1054Asn)
c.2805A>C (p.Lys935Asn)
2g.166242581T>ACA349070373SCN1A-AS1,SCN9Ac.3548A>T (p.Lys1183Ile)
c.3515A>T (p.Lys1172Ile)
c.2249A>T
n.612-5614T>A
c.3161A>T (p.Lys1054Ile)
c.2804A>T (p.Lys935Ile)
2g.166242581T>CCA349070375SCN1A-AS1,SCN9Ac.3548A>G (p.Lys1183Arg)
c.3515A>G (p.Lys1172Arg)
c.2249A>G
n.612-5614T>C
c.3161A>G (p.Lys1054Arg)
c.2804A>G (p.Lys935Arg)
2g.166242581T>GCA1944031SCN1A-AS1,SCN9Ac.3548A>C (p.Lys1183Thr)
c.3515A>C (p.Lys1172Thr)
c.2249A>C
n.612-5614T>G
c.3161A>C (p.Lys1054Thr)
c.2804A>C (p.Lys935Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242581T=CA1304945642SCN1A-AS1,SCN9Ac.3548A= (p.Lys1183=)
c.3515A= (p.Lys1172=)
c.2249A=
n.612-5614T=
c.3161A= (p.Lys1054=)
c.2804A= (p.Lys935=)
2g.166242582T>ACA349070379SCN1A-AS1,SCN9Ac.3547A>T (p.Lys1183Ter)
c.3514A>T (p.Lys1172Ter)
c.2248A>T
n.612-5613T>A
c.3160A>T (p.Lys1054Ter)
c.2803A>T (p.Lys935Ter)
 dbSNP
2g.166242582T>CCA349070383SCN1A-AS1,SCN9Ac.3547A>G (p.Lys1183Glu)
c.3514A>G (p.Lys1172Glu)
c.2248A>G
n.612-5613T>C
c.3160A>G (p.Lys1054Glu)
c.2803A>G (p.Lys935Glu)
2g.166242582T>GCA349070385SCN1A-AS1,SCN9Ac.3547A>C (p.Lys1183Gln)
c.3514A>C (p.Lys1172Gln)
c.2248A>C
n.612-5613T>G
c.3160A>C (p.Lys1054Gln)
c.2803A>C (p.Lys935Gln)
2g.166242582T=CA1304945644SCN1A-AS1,SCN9Ac.3547A= (p.Lys1183=)
c.3514A= (p.Lys1172=)
c.2248A=
n.612-5613T=
c.3160A= (p.Lys1054=)
c.2803A= (p.Lys935=)
2g.166242582_166242583delinsTCCA1304945643SCN1A-AS1,SCN9Ac.3546_3547delinsGA (p.Arg1182=)
c.3513_3514delinsGA (p.Arg1171=)
c.2247_2248delinsGA
n.612-5613_612-5612delinsTC
c.3159_3160delinsGA (p.Arg1053=)
c.2802_2803delinsGA (p.Arg934=)
2g.166242583C>ACA349070387SCN1A-AS1,SCN9Ac.3546G>T (p.Arg1182Ser)
c.3513G>T (p.Arg1171Ser)
c.2247G>T
n.612-5612C>A
c.3159G>T (p.Arg1053Ser)
c.2802G>T (p.Arg934Ser)
2g.166242583C>GCA349070389SCN1A-AS1,SCN9Ac.3546G>C (p.Arg1182Ser)
c.3513G>C (p.Arg1171Ser)
c.2247G>C
n.612-5612C>G
c.3159G>C (p.Arg1053Ser)
c.2802G>C (p.Arg934Ser)
2g.166242583C>TCA429901343SCN1A-AS1,SCN9Ac.3546G>A (p.Arg1182=)
c.3513G>A (p.Arg1171=)
c.2247G>A
n.612-5612C>T
c.3159G>A (p.Arg1053=)
c.2802G>A (p.Arg934=)
 COSMIC COSMIC
2g.166242584delCA760192116SCN1A-AS1,SCN9Ac.3546del (p.Thr1184ProfsTer18)
c.3513del (p.Thr1173ProfsTer18)
c.2247del
n.612-5611del
c.3159del (p.Thr1055ProfsTer18)
c.2802del (p.Thr936ProfsTer18)
 dbSNP
2g.166242584C>ACA349070391SCN1A-AS1,SCN9Ac.3545G>T (p.Arg1182Met)
c.3512G>T (p.Arg1171Met)
c.2246G>T
n.612-5611C>A
c.3158G>T (p.Arg1053Met)
c.2801G>T (p.Arg934Met)
 gnomAD v4
2g.166242584C=CA1304945646SCN1A-AS1,SCN9Ac.3545G= (p.Arg1182=)
c.3512G= (p.Arg1171=)
c.2246G=
n.612-5611C=
c.3158G= (p.Arg1053=)
c.2801G= (p.Arg934=)
2g.166242584C>GCA349070393SCN1A-AS1,SCN9Ac.3545G>C (p.Arg1182Thr)
c.3512G>C (p.Arg1171Thr)
c.2246G>C
n.612-5611C>G
c.3158G>C (p.Arg1053Thr)
c.2801G>C (p.Arg934Thr)
2g.166242584C>TCA1944032SCN1A-AS1,SCN9Ac.3545G>A (p.Arg1182Lys)
c.3512G>A (p.Arg1171Lys)
c.2246G>A
n.612-5611C>T
c.3158G>A (p.Arg1053Lys)
c.2801G>A (p.Arg934Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166242585T>ACA349070397SCN1A-AS1,SCN9Ac.3544A>T (p.Arg1182Trp)
c.3511A>T (p.Arg1171Trp)
c.2245A>T
n.612-5610T>A
c.3157A>T (p.Arg1053Trp)
c.2800A>T (p.Arg934Trp)
2g.166242585T>CCA349070400SCN1A-AS1,SCN9Ac.3544A>G (p.Arg1182Gly)
c.3511A>G (p.Arg1171Gly)
c.2245A>G
n.612-5610T>C
c.3157A>G (p.Arg1053Gly)
c.2800A>G (p.Arg934Gly)
2g.166242585T>GCA429901345SCN1A-AS1,SCN9Ac.3544A>C (p.Arg1182=)
c.3511A>C (p.Arg1171=)
c.2245A>C
n.612-5610T>G
c.3157A>C (p.Arg1053=)
c.2800A>C (p.Arg934=)
2g.166242586G>ACA429901349SCN1A-AS1,SCN9Ac.3543C>T (p.Ile1181=)
c.3510C>T (p.Ile1170=)
c.2244C>T
n.612-5609G>A
c.3156C>T (p.Ile1052=)
c.2799C>T (p.Ile933=)
 dbSNP gnomAD v4
2g.166242586G>CCA349070403SCN1A-AS1,SCN9Ac.3543C>G (p.Ile1181Met)
c.3510C>G (p.Ile1170Met)
c.2244C>G
n.612-5609G>C
c.3156C>G (p.Ile1052Met)
c.2799C>G (p.Ile933Met)
2g.166242586G=CA1304945647SCN1A-AS1,SCN9Ac.3543C= (p.Ile1181=)
c.3510C= (p.Ile1170=)
c.2244C=
n.612-5609G=
c.3156C= (p.Ile1052=)
c.2799C= (p.Ile933=)
2g.166242586G>TCA429901350SCN1A-AS1,SCN9Ac.3543C>A (p.Ile1181=)
c.3510C>A (p.Ile1170=)
c.2244C>A
n.612-5609G>T
c.3156C>A (p.Ile1052=)
c.2799C>A (p.Ile933=)
 dbSNP gnomAD v2
2g.166242587A=CA1304945650SCN1A-AS1,SCN9Ac.3542T= (p.Ile1181=)
c.3509T= (p.Ile1170=)
c.2243T=
n.612-5608A=
c.3155T= (p.Ile1052=)
c.2798T= (p.Ile933=)
2g.166242587A>CCA349070409SCN1A-AS1,SCN9Ac.3542T>G (p.Ile1181Ser)
c.3509T>G (p.Ile1170Ser)
c.2243T>G
n.612-5608A>C
c.3155T>G (p.Ile1052Ser)
c.2798T>G (p.Ile933Ser)
2g.166242587A>GCA349070410SCN1A-AS1,SCN9Ac.3542T>C (p.Ile1181Thr)
c.3509T>C (p.Ile1170Thr)
c.2243T>C
n.612-5608A>G
c.3155T>C (p.Ile1052Thr)
c.2798T>C (p.Ile933Thr)
2g.166242587A>TCA349070406SCN1A-AS1,SCN9Ac.3542T>A (p.Ile1181Asn)
c.3509T>A (p.Ile1170Asn)
c.2243T>A
n.612-5608A>T
c.3155T>A (p.Ile1052Asn)
c.2798T>A (p.Ile933Asn)
 ClinVar dbSNP
2g.166242588T>ACA349070413SCN1A-AS1,SCN9Ac.3541A>T (p.Ile1181Phe)
c.3508A>T (p.Ile1170Phe)
c.2242A>T
n.612-5607T>A
c.3154A>T (p.Ile1052Phe)
c.2797A>T (p.Ile933Phe)
2g.166242588T>CCA59814611SCN1A-AS1,SCN9Ac.3541A>G (p.Ile1181Val)
c.3508A>G (p.Ile1170Val)
c.2242A>G
n.612-5607T>C
c.3154A>G (p.Ile1052Val)
c.2797A>G (p.Ile933Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166242588T>GCA349070416SCN1A-AS1,SCN9Ac.3541A>C (p.Ile1181Leu)
c.3508A>C (p.Ile1170Leu)
c.2242A>C
n.612-5607T>G
c.3154A>C (p.Ile1052Leu)
c.2797A>C (p.Ile933Leu)
2g.166242588T=CA1304945653SCN1A-AS1,SCN9Ac.3541A= (p.Ile1181=)
c.3508A= (p.Ile1170=)
c.2242A=
n.612-5607T=
c.3154A= (p.Ile1052=)
c.2797A= (p.Ile933=)
2g.166242589G>ACA1944033SCN1A-AS1,SCN9Ac.3540C>T (p.Asn1180=)
c.3507C>T (p.Asn1169=)
c.2241C>T
n.612-5606G>A
c.3153C>T (p.Asn1051=)
c.2796C>T (p.Asn932=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242589G>CCA349070419SCN1A-AS1,SCN9Ac.3540C>G (p.Asn1180Lys)
c.3507C>G (p.Asn1169Lys)
c.2241C>G
n.612-5606G>C
c.3153C>G (p.Asn1051Lys)
c.2796C>G (p.Asn932Lys)
2g.166242589G=CA1304945654SCN1A-AS1,SCN9Ac.3540C= (p.Asn1180=)
c.3507C= (p.Asn1169=)
c.2241C=
n.612-5606G=
c.3153C= (p.Asn1051=)
c.2796C= (p.Asn932=)
2g.166242589G>TCA349070422SCN1A-AS1,SCN9Ac.3540C>A (p.Asn1180Lys)
c.3507C>A (p.Asn1169Lys)
c.2241C>A
n.612-5606G>T
c.3153C>A (p.Asn1051Lys)
c.2796C>A (p.Asn932Lys)
 gnomAD v4
2g.166242590T>ACA349070423SCN1A-AS1,SCN9Ac.3539A>T (p.Asn1180Ile)
c.3506A>T (p.Asn1169Ile)
c.2240A>T
n.612-5605T>A
c.3152A>T (p.Asn1051Ile)
c.2795A>T (p.Asn932Ile)
2g.166242590T>CCA59814614SCN1A-AS1,SCN9Ac.3539A>G (p.Asn1180Ser)
c.3506A>G (p.Asn1169Ser)
c.2240A>G
n.612-5605T>C
c.3152A>G (p.Asn1051Ser)
c.2795A>G (p.Asn932Ser)
 dbSNP
2g.166242590T>GCA349070424SCN1A-AS1,SCN9Ac.3539A>C (p.Asn1180Thr)
c.3506A>C (p.Asn1169Thr)
c.2240A>C
n.612-5605T>G
c.3152A>C (p.Asn1051Thr)
c.2795A>C (p.Asn932Thr)
2g.166242590T=CA1304945658SCN1A-AS1,SCN9Ac.3539A= (p.Asn1180=)
c.3506A= (p.Asn1169=)
c.2240A=
n.612-5605T=
c.3152A= (p.Asn1051=)
c.2795A= (p.Asn932=)
2g.166242591T>ACA349070425SCN1A-AS1,SCN9Ac.3538A>T (p.Asn1180Tyr)
c.3505A>T (p.Asn1169Tyr)
c.2239A>T
n.612-5604T>A
c.3151A>T (p.Asn1051Tyr)
c.2794A>T (p.Asn932Tyr)
2g.166242591T>CCA1944034SCN1A-AS1,SCN9Ac.3538A>G (p.Asn1180Asp)
c.3505A>G (p.Asn1169Asp)
c.2239A>G
n.612-5604T>C
c.3151A>G (p.Asn1051Asp)
c.2794A>G (p.Asn932Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242591T>GCA349070426SCN1A-AS1,SCN9Ac.3538A>C (p.Asn1180His)
c.3505A>C (p.Asn1169His)
c.2239A>C
n.612-5604T>G
c.3151A>C (p.Asn1051His)
c.2794A>C (p.Asn932His)
2g.166242591T=CA1304945659SCN1A-AS1,SCN9Ac.3538A= (p.Asn1180=)
c.3505A= (p.Asn1169=)
c.2239A=
n.612-5604T=
c.3151A= (p.Asn1051=)
c.2794A= (p.Asn932=)
2g.166242592C>ACA349070428SCN1A-AS1,SCN9Ac.3537G>T (p.Trp1179Cys)
c.3504G>T (p.Trp1168Cys)
c.2238G>T
n.612-5603C>A
c.3150G>T (p.Trp1050Cys)
c.2793G>T (p.Trp931Cys)
2g.166242592C=CA1304945661SCN1A-AS1,SCN9Ac.3537G= (p.Trp1179=)
c.3504G= (p.Trp1168=)
c.2238G=
n.612-5603C=
c.3150G= (p.Trp1050=)
c.2793G= (p.Trp931=)
2g.166242592C>GCA349070430SCN1A-AS1,SCN9Ac.3537G>C (p.Trp1179Cys)
c.3504G>C (p.Trp1168Cys)
c.2238G>C
n.612-5603C>G
c.3150G>C (p.Trp1050Cys)
c.2793G>C (p.Trp931Cys)
2g.166242592C>TCA349070432SCN1A-AS1,SCN9Ac.3537G>A (p.Trp1179Ter)
c.3504G>A (p.Trp1168Ter)
c.2238G>A
n.612-5603C>T
c.3150G>A (p.Trp1050Ter)
c.2793G>A (p.Trp931Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.166242593C>ACA349070438SCN1A-AS1,SCN9Ac.3536G>T (p.Trp1179Leu)
c.3503G>T (p.Trp1168Leu)
c.2237G>T
n.612-5602C>A
c.3149G>T (p.Trp1050Leu)
c.2792G>T (p.Trp931Leu)
2g.166242593C>GCA349070435SCN1A-AS1,SCN9Ac.3536G>C (p.Trp1179Ser)
c.3503G>C (p.Trp1168Ser)
c.2237G>C
n.612-5602C>G
c.3149G>C (p.Trp1050Ser)
c.2792G>C (p.Trp931Ser)
2g.166242593C>TCA349070437SCN1A-AS1,SCN9Ac.3536G>A (p.Trp1179Ter)
c.3503G>A (p.Trp1168Ter)
c.2237G>A
n.612-5602C>T
c.3149G>A (p.Trp1050Ter)
c.2792G>A (p.Trp931Ter)
 ClinVar
2g.166242594A=CA1304945662SCN1A-AS1,SCN9Ac.3535T= (p.Trp1179=)
c.3502T= (p.Trp1168=)
c.2236T=
n.612-5601A=
c.3148T= (p.Trp1050=)
c.2791T= (p.Trp931=)
2g.166242594A>CCA349070440SCN1A-AS1,SCN9Ac.3535T>G (p.Trp1179Gly)
c.3502T>G (p.Trp1168Gly)
c.2236T>G
n.612-5601A>C
c.3148T>G (p.Trp1050Gly)
c.2791T>G (p.Trp931Gly)
2g.166242594A>GCA349070442SCN1A-AS1,SCN9Ac.3535T>C (p.Trp1179Arg)
c.3502T>C (p.Trp1168Arg)
c.2236T>C
n.612-5601A>G
c.3148T>C (p.Trp1050Arg)
c.2791T>C (p.Trp931Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.166242594A>TCA349070444SCN1A-AS1,SCN9Ac.3535T>A (p.Trp1179Arg)
c.3502T>A (p.Trp1168Arg)
c.2236T>A
n.612-5601A>T
c.3148T>A (p.Trp1050Arg)
c.2791T>A (p.Trp931Arg)
2g.166242595C>ACA1944035SCN1A-AS1,SCN9Ac.3534G>T (p.Trp1178Cys)
c.3501G>T (p.Trp1167Cys)
c.2235G>T
n.612-5600C>A
c.3147G>T (p.Trp1049Cys)
c.2790G>T (p.Trp930Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166242595C=CA1304945667SCN1A-AS1,SCN9Ac.3534G= (p.Trp1178=)
c.3501G= (p.Trp1167=)
c.2235G=
n.612-5600C=
c.3147G= (p.Trp1049=)
c.2790G= (p.Trp930=)
2g.166242595C>GCA349070448SCN1A-AS1,SCN9Ac.3534G>C (p.Trp1178Cys)
c.3501G>C (p.Trp1167Cys)
c.2235G>C
n.612-5600C>G
c.3147G>C (p.Trp1049Cys)
c.2790G>C (p.Trp930Cys)
2g.166242595C>TCA349070451SCN1A-AS1,SCN9Ac.3534G>A (p.Trp1178Ter)
c.3501G>A (p.Trp1167Ter)
c.2235G>A
n.612-5600C>T
c.3147G>A (p.Trp1049Ter)
c.2790G>A (p.Trp930Ter)
 dbSNP
2g.166242596C>ACA349070453SCN1A-AS1,SCN9Ac.3533G>T (p.Trp1178Leu)
c.3500G>T (p.Trp1167Leu)
c.2234G>T
n.612-5599C>A
c.3146G>T (p.Trp1049Leu)
c.2789G>T (p.Trp930Leu)
 dbSNP
2g.166242596C=CA1304945668SCN1A-AS1,SCN9Ac.3533G= (p.Trp1178=)
c.3500G= (p.Trp1167=)
c.2234G=
n.612-5599C=
c.3146G= (p.Trp1049=)
c.2789G= (p.Trp930=)
2g.166242596C>GCA349070456SCN1A-AS1,SCN9Ac.3533G>C (p.Trp1178Ser)
c.3500G>C (p.Trp1167Ser)
c.2234G>C
n.612-5599C>G
c.3146G>C (p.Trp1049Ser)
c.2789G>C (p.Trp930Ser)
2g.166242596C>TCA349070459SCN1A-AS1,SCN9Ac.3533G>A (p.Trp1178Ter)
c.3500G>A (p.Trp1167Ter)
c.2234G>A
n.612-5599C>T
c.3146G>A (p.Trp1049Ter)
c.2789G>A (p.Trp930Ter)
2g.166242597A>CCA349070463SCN1A-AS1,SCN9Ac.3532T>G (p.Trp1178Gly)
c.3499T>G (p.Trp1167Gly)
c.2233T>G
n.612-5598A>C
c.3145T>G (p.Trp1049Gly)
c.2788T>G (p.Trp930Gly)
2g.166242597A>GCA349070464SCN1A-AS1,SCN9Ac.3532T>C (p.Trp1178Arg)
c.3499T>C (p.Trp1167Arg)
c.2233T>C
n.612-5598A>G
c.3145T>C (p.Trp1049Arg)
c.2788T>C (p.Trp930Arg)
2g.166242597A>TCA349070466SCN1A-AS1,SCN9Ac.3532T>A (p.Trp1178Arg)
c.3499T>A (p.Trp1167Arg)
c.2233T>A
n.612-5598A>T
c.3145T>A (p.Trp1049Arg)
c.2788T>A (p.Trp930Arg)
2g.166242598G>ACA429901359SCN1A-AS1,SCN9Ac.3531C>T (p.Ile1177=)
c.3498C>T (p.Ile1166=)
c.2232C>T
n.612-5597G>A
c.3144C>T (p.Ile1048=)
c.2787C>T (p.Ile929=)
2g.166242598G>CCA349070470SCN1A-AS1,SCN9Ac.3531C>G (p.Ile1177Met)
c.3498C>G (p.Ile1166Met)
c.2232C>G
n.612-5597G>C
c.3144C>G (p.Ile1048Met)
c.2787C>G (p.Ile929Met)
2g.166242598G=CA1304945669SCN1A-AS1,SCN9Ac.3531C= (p.Ile1177=)
c.3498C= (p.Ile1166=)
c.2232C=
n.612-5597G=
c.3144C= (p.Ile1048=)
c.2787C= (p.Ile929=)
2g.166242598G>TCA59814618SCN1A-AS1,SCN9Ac.3531C>A (p.Ile1177=)
c.3498C>A (p.Ile1166=)
c.2232C>A
n.612-5597G>T
c.3144C>A (p.Ile1048=)
c.2787C>A (p.Ile929=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242599A>CCA349070473SCN1A-AS1,SCN9Ac.3530T>G (p.Ile1177Ser)
c.3497T>G (p.Ile1166Ser)
c.2231T>G
n.612-5596A>C
c.3143T>G (p.Ile1048Ser)
c.2786T>G (p.Ile929Ser)
2g.166242599A>GCA349070471SCN1A-AS1,SCN9Ac.3530T>C (p.Ile1177Thr)
c.3497T>C (p.Ile1166Thr)
c.2231T>C
n.612-5596A>G
c.3143T>C (p.Ile1048Thr)
c.2786T>C (p.Ile929Thr)
2g.166242599A>TCA349070472SCN1A-AS1,SCN9Ac.3530T>A (p.Ile1177Asn)
c.3497T>A (p.Ile1166Asn)
c.2231T>A
n.612-5596A>T
c.3143T>A (p.Ile1048Asn)
c.2786T>A (p.Ile929Asn)
2g.166242600T>ACA349070475SCN1A-AS1,SCN9Ac.3529A>T (p.Ile1177Phe)
c.3496A>T (p.Ile1166Phe)
c.2230A>T
n.612-5595T>A
c.3142A>T (p.Ile1048Phe)
c.2785A>T (p.Ile929Phe)
 dbSNP
2g.166242600T>CCA349070478SCN1A-AS1,SCN9Ac.3529A>G (p.Ile1177Val)
c.3496A>G (p.Ile1166Val)
c.2230A>G
n.612-5595T>C
c.3142A>G (p.Ile1048Val)
c.2785A>G (p.Ile929Val)
2g.166242600T>GCA349070479SCN1A-AS1,SCN9Ac.3529A>C (p.Ile1177Leu)
c.3496A>C (p.Ile1166Leu)
c.2230A>C
n.612-5595T>G
c.3142A>C (p.Ile1048Leu)
c.2785A>C (p.Ile929Leu)
2g.166242600T=CA1304945671SCN1A-AS1,SCN9Ac.3529A= (p.Ile1177=)
c.3496A= (p.Ile1166=)
c.2230A=
n.612-5595T=
c.3142A= (p.Ile1048=)
c.2785A= (p.Ile929=)
2g.166242601T>ACA349070481SCN1A-AS1,SCN9Ac.3528A>T (p.Lys1176Asn)
c.3495A>T (p.Lys1165Asn)
c.2229A>T
n.612-5594T>A
c.3141A>T (p.Lys1047Asn)
c.2784A>T (p.Lys928Asn)
2g.166242601T>CCA429901364SCN1A-AS1,SCN9Ac.3528A>G (p.Lys1176=)
c.3495A>G (p.Lys1165=)
c.2229A>G
n.612-5594T>C
c.3141A>G (p.Lys1047=)
c.2784A>G (p.Lys928=)
2g.166242601T>GCA349070482SCN1A-AS1,SCN9Ac.3528A>C (p.Lys1176Asn)
c.3495A>C (p.Lys1165Asn)
c.2229A>C
n.612-5594T>G
c.3141A>C (p.Lys1047Asn)
c.2784A>C (p.Lys928Asn)
 gnomAD v4
2g.166242602T>ACA349070491SCN1A-AS1,SCN9Ac.3527A>T (p.Lys1176Ile)
c.3494A>T (p.Lys1165Ile)
c.2228A>T
n.612-5593T>A
c.3140A>T (p.Lys1047Ile)
c.2783A>T (p.Lys928Ile)
2g.166242602T>CCA349070493SCN1A-AS1,SCN9Ac.3527A>G (p.Lys1176Arg)
c.3494A>G (p.Lys1165Arg)
c.2228A>G
n.612-5593T>C
c.3140A>G (p.Lys1047Arg)
c.2783A>G (p.Lys928Arg)
2g.166242602T>GCA349070495SCN1A-AS1,SCN9Ac.3527A>C (p.Lys1176Thr)
c.3494A>C (p.Lys1165Thr)
c.2228A>C
n.612-5593T>G
c.3140A>C (p.Lys1047Thr)
c.2783A>C (p.Lys928Thr)
2g.166242603T>ACA349070498SCN1A-AS1,SCN9Ac.3526A>T (p.Lys1176Ter)
c.3493A>T (p.Lys1165Ter)
c.2227A>T
n.612-5592T>A
c.3139A>T (p.Lys1047Ter)
c.2782A>T (p.Lys928Ter)
 dbSNP
2g.166242603T>CCA349070501SCN1A-AS1,SCN9Ac.3526A>G (p.Lys1176Glu)
c.3493A>G (p.Lys1165Glu)
c.2227A>G
n.612-5592T>C
c.3139A>G (p.Lys1047Glu)
c.2782A>G (p.Lys928Glu)
2g.166242603T>GCA349070503SCN1A-AS1,SCN9Ac.3526A>C (p.Lys1176Gln)
c.3493A>C (p.Lys1165Gln)
c.2227A>C
n.612-5592T>G
c.3139A>C (p.Lys1047Gln)
c.2782A>C (p.Lys928Gln)
2g.166242603T=CA1304945672SCN1A-AS1,SCN9Ac.3526A= (p.Lys1176=)
c.3493A= (p.Lys1165=)
c.2227A=
n.612-5592T=
c.3139A= (p.Lys1047=)
c.2782A= (p.Lys928=)
2g.166242604T>ACA429901365SCN1A-AS1,SCN9Ac.3525A>T (p.Gly1175=)
c.3492A>T (p.Gly1164=)
c.2226A>T
n.612-5591T>A
c.3138A>T (p.Gly1046=)
c.2781A>T (p.Gly927=)
2g.166242604T>CCA429901366SCN1A-AS1,SCN9Ac.3525A>G (p.Gly1175=)
c.3492A>G (p.Gly1164=)
c.2226A>G
n.612-5591T>C
c.3138A>G (p.Gly1046=)
c.2781A>G (p.Gly927=)
2g.166242604T>GCA429901369SCN1A-AS1,SCN9Ac.3525A>C (p.Gly1175=)
c.3492A>C (p.Gly1164=)
c.2226A>C
n.612-5591T>G
c.3138A>C (p.Gly1046=)
c.2781A>C (p.Gly927=)
2g.166242605C>ACA349070518SCN1A-AS1,SCN9Ac.3524G>T (p.Gly1175Val)
c.3491G>T (p.Gly1164Val)
c.2225G>T
n.612-5590C>A
c.3137G>T (p.Gly1046Val)
c.2780G>T (p.Gly927Val)
 gnomAD v4
2g.166242605C>GCA349070506SCN1A-AS1,SCN9Ac.3524G>C (p.Gly1175Ala)
c.3491G>C (p.Gly1164Ala)
c.2225G>C
n.612-5590C>G
c.3137G>C (p.Gly1046Ala)
c.2780G>C (p.Gly927Ala)
2g.166242605C>TCA349070516SCN1A-AS1,SCN9Ac.3524G>A (p.Gly1175Glu)
c.3491G>A (p.Gly1164Glu)
c.2225G>A
n.612-5590C>T
c.3137G>A (p.Gly1046Glu)
c.2780G>A (p.Gly927Glu)
 gnomAD v4 COSMIC COSMIC
2g.166242606C>ACA349070523SCN1A-AS1,SCN9Ac.3523G>T (p.Gly1175Ter)
c.3490G>T (p.Gly1164Ter)
c.2224G>T
n.612-5589C>A
c.3136G>T (p.Gly1046Ter)
c.2779G>T (p.Gly927Ter)
 dbSNP
2g.166242606C=CA1304945673SCN1A-AS1,SCN9Ac.3523G= (p.Gly1175=)
c.3490G= (p.Gly1164=)
c.2224G=
n.612-5589C=
c.3136G= (p.Gly1046=)
c.2779G= (p.Gly927=)
2g.166242606C>GCA349070524SCN1A-AS1,SCN9Ac.3523G>C (p.Gly1175Arg)
c.3490G>C (p.Gly1164Arg)
c.2224G>C
n.612-5589C>G
c.3136G>C (p.Gly1046Arg)
c.2779G>C (p.Gly927Arg)
2g.166242606C>TCA349070527SCN1A-AS1,SCN9Ac.3523G>A (p.Gly1175Arg)
c.3490G>A (p.Gly1164Arg)
c.2224G>A
n.612-5589C>T
c.3136G>A (p.Gly1046Arg)
c.2779G>A (p.Gly927Arg)
2g.166242607T>ACA349070532SCN1A-AS1,SCN9Ac.3522A>T (p.Lys1174Asn)
c.3489A>T (p.Lys1163Asn)
c.2223A>T
n.612-5588T>A
c.3135A>T (p.Lys1045Asn)
c.2778A>T (p.Lys926Asn)
2g.166242607T>CCA429901372SCN1A-AS1,SCN9Ac.3522A>G (p.Lys1174=)
c.3489A>G (p.Lys1163=)
c.2223A>G
n.612-5588T>C
c.3135A>G (p.Lys1045=)
c.2778A>G (p.Lys926=)
 gnomAD v4
2g.166242607T>GCA349070534SCN1A-AS1,SCN9Ac.3522A>C (p.Lys1174Asn)
c.3489A>C (p.Lys1163Asn)
c.2223A>C
n.612-5588T>G
c.3135A>C (p.Lys1045Asn)
c.2778A>C (p.Lys926Asn)
 COSMIC COSMIC
2g.166242608T>ACA349070537SCN1A-AS1,SCN9Ac.3521A>T (p.Lys1174Ile)
c.3488A>T (p.Lys1163Ile)
c.2222A>T
n.612-5587T>A
c.3134A>T (p.Lys1045Ile)
c.2777A>T (p.Lys926Ile)
2g.166242608T>CCA349070540SCN1A-AS1,SCN9Ac.3521A>G (p.Lys1174Arg)
c.3488A>G (p.Lys1163Arg)
c.2222A>G
n.612-5587T>C
c.3134A>G (p.Lys1045Arg)
c.2777A>G (p.Lys926Arg)
2g.166242608T>GCA349070544SCN1A-AS1,SCN9Ac.3521A>C (p.Lys1174Thr)
c.3488A>C (p.Lys1163Thr)
c.2222A>C
n.612-5587T>G
c.3134A>C (p.Lys1045Thr)
c.2777A>C (p.Lys926Thr)
2g.166242609T>ACA349070546SCN1A-AS1,SCN9Ac.3520A>T (p.Lys1174Ter)
c.3487A>T (p.Lys1163Ter)
c.2221A>T
n.612-5586T>A
c.3133A>T (p.Lys1045Ter)
c.2776A>T (p.Lys926Ter)
 dbSNP
2g.166242609T>CCA349070549SCN1A-AS1,SCN9Ac.3520A>G (p.Lys1174Glu)
c.3487A>G (p.Lys1163Glu)
c.2221A>G
n.612-5586T>C
c.3133A>G (p.Lys1045Glu)
c.2776A>G (p.Lys926Glu)
2g.166242609T>GCA349070553SCN1A-AS1,SCN9Ac.3520A>C (p.Lys1174Gln)
c.3487A>C (p.Lys1163Gln)
c.2221A>C
n.612-5586T>G
c.3133A>C (p.Lys1045Gln)
c.2776A>C (p.Lys926Gln)
2g.166242609T=CA1304945674SCN1A-AS1,SCN9Ac.3520A= (p.Lys1174=)
c.3487A= (p.Lys1163=)
c.2221A=
n.612-5586T=
c.3133A= (p.Lys1045=)
c.2776A= (p.Lys926=)
2g.166242610C>ACA429901374SCN1A-AS1,SCN9Ac.3519G>T (p.Gly1173=)
c.3486G>T (p.Gly1162=)
c.2220G>T
n.612-5585C>A
c.3132G>T (p.Gly1044=)
c.2775G>T (p.Gly925=)
2g.166242610C=CA1304945676SCN1A-AS1,SCN9Ac.3519G= (p.Gly1173=)
c.3486G= (p.Gly1162=)
c.2220G=
n.612-5585C=
c.3132G= (p.Gly1044=)
c.2775G= (p.Gly925=)
2g.166242610C>GCA429901375SCN1A-AS1,SCN9Ac.3519G>C (p.Gly1173=)
c.3486G>C (p.Gly1162=)
c.2220G>C
n.612-5585C>G
c.3132G>C (p.Gly1044=)
c.2775G>C (p.Gly925=)
 ClinVar dbSNP gnomAD v4
2g.166242610C>TCA429901376SCN1A-AS1,SCN9Ac.3519G>A (p.Gly1173=)
c.3486G>A (p.Gly1162=)
c.2220G>A
n.612-5585C>T
c.3132G>A (p.Gly1044=)
c.2775G>A (p.Gly925=)
 gnomAD v4 COSMIC COSMIC
2g.166242611C>ACA349070556SCN1A-AS1,SCN9Ac.3518G>T (p.Gly1173Val)
c.3485G>T (p.Gly1162Val)
c.2219G>T
n.612-5584C>A
c.3131G>T (p.Gly1044Val)
c.2774G>T (p.Gly925Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166242611C=CA1304945681SCN1A-AS1,SCN9Ac.3518G= (p.Gly1173=)
c.3485G= (p.Gly1162=)
c.2219G=
n.612-5584C=
c.3131G= (p.Gly1044=)
c.2774G= (p.Gly925=)
2g.166242611C>GCA1944036SCN1A-AS1,SCN9Ac.3518G>C (p.Gly1173Ala)
c.3485G>C (p.Gly1162Ala)
c.2219G>C
n.612-5584C>G
c.3131G>C (p.Gly1044Ala)
c.2774G>C (p.Gly925Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242611C>TCA349070559SCN1A-AS1,SCN9Ac.3518G>A (p.Gly1173Glu)
c.3485G>A (p.Gly1162Glu)
c.2219G>A
n.612-5584C>T
c.3131G>A (p.Gly1044Glu)
c.2774G>A (p.Gly925Glu)
2g.166242612C>ACA349070565SCN1A-AS1,SCN9Ac.3517G>T (p.Gly1173Trp)
c.3484G>T (p.Gly1162Trp)
c.2218G>T
n.612-5583C>A
c.3130G>T (p.Gly1044Trp)
c.2773G>T (p.Gly925Trp)
2g.166242612C>GCA349070570SCN1A-AS1,SCN9Ac.3517G>C (p.Gly1173Arg)
c.3484G>C (p.Gly1162Arg)
c.2218G>C
n.612-5583C>G
c.3130G>C (p.Gly1044Arg)
c.2773G>C (p.Gly925Arg)
2g.166242612C>TCA349070568SCN1A-AS1,SCN9Ac.3517G>A (p.Gly1173Arg)
c.3484G>A (p.Gly1162Arg)
c.2218G>A
n.612-5583C>T
c.3130G>A (p.Gly1044Arg)
c.2773G>A (p.Gly925Arg)
2g.166242613T>ACA429901380SCN1A-AS1,SCN9Ac.3516A>T (p.Ser1172=)
c.3483A>T (p.Ser1161=)
c.2217A>T
n.612-5582T>A
c.3129A>T (p.Ser1043=)
c.2772A>T (p.Ser924=)
2g.166242613T>CCA429901379SCN1A-AS1,SCN9Ac.3516A>G (p.Ser1172=)
c.3483A>G (p.Ser1161=)
c.2217A>G
n.612-5582T>C
c.3129A>G (p.Ser1043=)
c.2772A>G (p.Ser924=)
 gnomAD v4
2g.166242613T>GCA429901378SCN1A-AS1,SCN9Ac.3516A>C (p.Ser1172=)
c.3483A>C (p.Ser1161=)
c.2217A>C
n.612-5582T>G
c.3129A>C (p.Ser1043=)
c.2772A>C (p.Ser924=)
2g.166242614G>ACA349070574SCN1A-AS1,SCN9Ac.3515C>T (p.Ser1172Leu)
c.3482C>T (p.Ser1161Leu)
c.2216C>T
n.612-5581G>A
c.3128C>T (p.Ser1043Leu)
c.2771C>T (p.Ser924Leu)
2g.166242614G>CCA349070578SCN1A-AS1,SCN9Ac.3515C>G (p.Ser1172Ter)
c.3482C>G (p.Ser1161Ter)
c.2216C>G
n.612-5581G>C
c.3128C>G (p.Ser1043Ter)
c.2771C>G (p.Ser924Ter)
2g.166242614G>TCA349070575SCN1A-AS1,SCN9Ac.3515C>A (p.Ser1172Ter)
c.3482C>A (p.Ser1161Ter)
c.2216C>A
n.612-5581G>T
c.3128C>A (p.Ser1043Ter)
c.2771C>A (p.Ser924Ter)
2g.166242615A=CA1304945683SCN1A-AS1,SCN9Ac.3514T= (p.Ser1172=)
c.3481T= (p.Ser1161=)
c.2215T=
n.612-5580A=
c.3127T= (p.Ser1043=)
c.2770T= (p.Ser924=)
2g.166242615A>CCA349070582SCN1A-AS1,SCN9Ac.3514T>G (p.Ser1172Ala)
c.3481T>G (p.Ser1161Ala)
c.2215T>G
n.612-5580A>C
c.3127T>G (p.Ser1043Ala)
c.2770T>G (p.Ser924Ala)
2g.166242615A>GCA349070586SCN1A-AS1,SCN9Ac.3514T>C (p.Ser1172Pro)
c.3481T>C (p.Ser1161Pro)
c.2215T>C
n.612-5580A>G
c.3127T>C (p.Ser1043Pro)
c.2770T>C (p.Ser924Pro)
 ClinVar dbSNP
2g.166242615A>TCA349070583SCN1A-AS1,SCN9Ac.3514T>A (p.Ser1172Thr)
c.3481T>A (p.Ser1161Thr)
c.2215T>A
n.612-5580A>T
c.3127T>A (p.Ser1043Thr)
c.2770T>A (p.Ser924Thr)
2g.166242616C>ACA349070588SCN1A-AS1,SCN9Ac.3513G>T (p.Glu1171Asp)
c.3480G>T (p.Glu1160Asp)
c.2214G>T
n.612-5579C>A
c.3126G>T (p.Glu1042Asp)
c.2769G>T (p.Glu923Asp)
2g.166242616C>GCA349070590SCN1A-AS1,SCN9Ac.3513G>C (p.Glu1171Asp)
c.3480G>C (p.Glu1160Asp)
c.2214G>C
n.612-5579C>G
c.3126G>C (p.Glu1042Asp)
c.2769G>C (p.Glu923Asp)
2g.166242616C>TCA429901385SCN1A-AS1,SCN9Ac.3513G>A (p.Glu1171=)
c.3480G>A (p.Glu1160=)
c.2214G>A
n.612-5579C>T
c.3126G>A (p.Glu1042=)
c.2769G>A (p.Glu923=)
2g.166242617T>ACA349070593SCN1A-AS1,SCN9Ac.3512A>T (p.Glu1171Val)
c.3479A>T (p.Glu1160Val)
c.2213A>T
n.612-5578T>A
c.3125A>T (p.Glu1042Val)
c.2768A>T (p.Glu923Val)
2g.166242617T>CCA59814621SCN1A-AS1,SCN9Ac.3512A>G (p.Glu1171Gly)
c.3479A>G (p.Glu1160Gly)
c.2213A>G
n.612-5578T>C
c.3125A>G (p.Glu1042Gly)
c.2768A>G (p.Glu923Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242617T>GCA349070594SCN1A-AS1,SCN9Ac.3512A>C (p.Glu1171Ala)
c.3479A>C (p.Glu1160Ala)
c.2213A>C
n.612-5578T>G
c.3125A>C (p.Glu1042Ala)
c.2768A>C (p.Glu923Ala)
2g.166242617T=CA1304945684SCN1A-AS1,SCN9Ac.3512A= (p.Glu1171=)
c.3479A= (p.Glu1160=)
c.2213A=
n.612-5578T=
c.3125A= (p.Glu1042=)
c.2768A= (p.Glu923=)
2g.166242618C>ACA349070595SCN1A-AS1,SCN9Ac.3511G>T (p.Glu1171Ter)
c.3478G>T (p.Glu1160Ter)
c.2212G>T
n.612-5577C>A
c.3124G>T (p.Glu1042Ter)
c.2767G>T (p.Glu923Ter)
 dbSNP
2g.166242618C=CA1304945686SCN1A-AS1,SCN9Ac.3511G= (p.Glu1171=)
c.3478G= (p.Glu1160=)
c.2212G=
n.612-5577C=
c.3124G= (p.Glu1042=)
c.2767G= (p.Glu923=)
2g.166242618C>GCA349070596SCN1A-AS1,SCN9Ac.3511G>C (p.Glu1171Gln)
c.3478G>C (p.Glu1160Gln)
c.2212G>C
n.612-5577C>G
c.3124G>C (p.Glu1042Gln)
c.2767G>C (p.Glu923Gln)
2g.166242618C>TCA349070598SCN1A-AS1,SCN9Ac.3511G>A (p.Glu1171Lys)
c.3478G>A (p.Glu1160Lys)
c.2212G>A
n.612-5577C>T
c.3124G>A (p.Glu1042Lys)
c.2767G>A (p.Glu923Lys)
2g.166242618_166242620delinsCTACA1304945685SCN1A-AS1,SCN9Ac.3509_3511delinsTAG (p.Ile1170=)
c.3476_3478delinsTAG (p.Ile1159=)
c.2210_2212delinsTAG
n.612-5577_612-5575delinsCTA
c.3122_3124delinsTAG (p.Ile1041=)
c.2765_2767delinsTAG (p.Ile922=)
2g.166242619T>ACA429901386SCN1A-AS1,SCN9Ac.3510A>T (p.Ile1170=)
c.3477A>T (p.Ile1159=)
c.2211A>T
n.612-5576T>A
c.3123A>T (p.Ile1041=)
c.2766A>T (p.Ile922=)
 dbSNP gnomAD v3 gnomAD v4
2g.166242619T>CCA349070600SCN1A-AS1,SCN9Ac.3510A>G (p.Ile1170Met)
c.3477A>G (p.Ile1159Met)
c.2211A>G
n.612-5576T>C
c.3123A>G (p.Ile1041Met)
c.2766A>G (p.Ile922Met)
 dbSNP
2g.166242619T>GCA429901387SCN1A-AS1,SCN9Ac.3510A>C (p.Ile1170=)
c.3477A>C (p.Ile1159=)
c.2211A>C
n.612-5576T>G
c.3123A>C (p.Ile1041=)
c.2766A>C (p.Ile922=)
2g.166242619T=CA1304945687SCN1A-AS1,SCN9Ac.3510A= (p.Ile1170=)
c.3477A= (p.Ile1159=)
c.2211A=
n.612-5576T=
c.3123A= (p.Ile1041=)
c.2766A= (p.Ile922=)
2g.166242620_166242621delCA537511935SCN1A-AS1,SCN9Ac.3509_3510del (p.Ile1170ArgfsTer20)
c.3476_3477del (p.Ile1159ArgfsTer20)
c.2210_2211del
n.612-5575_612-5574del
c.3122_3123del (p.Ile1041ArgfsTer20)
c.2765_2766del (p.Ile922ArgfsTer20)
 dbSNP gnomAD v2 gnomAD v4
2g.166242620A=CA1304945688SCN1A-AS1,SCN9Ac.3509T= (p.Ile1170=)
c.3476T= (p.Ile1159=)
c.2210T=
n.612-5575A=
c.3122T= (p.Ile1041=)
c.2765T= (p.Ile922=)
2g.166242620A>CCA349070608SCN1A-AS1,SCN9Ac.3509T>G (p.Ile1170Arg)
c.3476T>G (p.Ile1159Arg)
c.2210T>G
n.612-5575A>C
c.3122T>G (p.Ile1041Arg)
c.2765T>G (p.Ile922Arg)
2g.166242620A>GCA231500SCN1A-AS1,SCN9Ac.3509T>C (p.Ile1170Thr)
c.3476T>C (p.Ile1159Thr)
c.2210T>C
n.612-5575A>G
c.3122T>C (p.Ile1041Thr)
c.2765T>C (p.Ile922Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242620A>TCA349070604SCN1A-AS1,SCN9Ac.3509T>A (p.Ile1170Lys)
c.3476T>A (p.Ile1159Lys)
c.2210T>A
n.612-5575A>T
c.3122T>A (p.Ile1041Lys)
c.2765T>A (p.Ile922Lys)
2g.166242621T>ACA349070609SCN1A-AS1,SCN9Ac.3508A>T (p.Ile1170Leu)
c.3475A>T (p.Ile1159Leu)
c.2209A>T
n.612-5574T>A
c.3121A>T (p.Ile1041Leu)
c.2764A>T (p.Ile922Leu)
2g.166242621T>CCA349070611SCN1A-AS1,SCN9Ac.3508A>G (p.Ile1170Val)
c.3475A>G (p.Ile1159Val)
c.2209A>G
n.612-5574T>C
c.3121A>G (p.Ile1041Val)
c.2764A>G (p.Ile922Val)
2g.166242621T>GCA349070614SCN1A-AS1,SCN9Ac.3508A>C (p.Ile1170Leu)
c.3475A>C (p.Ile1159Leu)
c.2209A>C
n.612-5574T>G
c.3121A>C (p.Ile1041Leu)
c.2764A>C (p.Ile922Leu)
2g.166242622G>ACA429901393SCN1A-AS1,SCN9Ac.3507C>T (p.Asn1169=)
c.3474C>T (p.Asn1158=)
c.2208C>T
n.612-5573G>A
c.3120C>T (p.Asn1040=)
c.2763C>T (p.Asn921=)
2g.166242622G>CCA349070618SCN1A-AS1,SCN9Ac.3507C>G (p.Asn1169Lys)
c.3474C>G (p.Asn1158Lys)
c.2208C>G
n.612-5573G>C
c.3120C>G (p.Asn1040Lys)
c.2763C>G (p.Asn921Lys)
2g.166242622G>TCA349070620SCN1A-AS1,SCN9Ac.3507C>A (p.Asn1169Lys)
c.3474C>A (p.Asn1158Lys)
c.2208C>A
n.612-5573G>T
c.3120C>A (p.Asn1040Lys)
c.2763C>A (p.Asn921Lys)
2g.166242623T>ACA349070623SCN1A-AS1,SCN9Ac.3506A>T (p.Asn1169Ile)
c.3473A>T (p.Asn1158Ile)
c.2207A>T
n.612-5572T>A
c.3119A>T (p.Asn1040Ile)
c.2762A>T (p.Asn921Ile)
2g.166242623T>CCA349070624SCN1A-AS1,SCN9Ac.3506A>G (p.Asn1169Ser)
c.3473A>G (p.Asn1158Ser)
c.2207A>G
n.612-5572T>C
c.3119A>G (p.Asn1040Ser)
c.2762A>G (p.Asn921Ser)
2g.166242623T>GCA201453SCN1A-AS1,SCN9Ac.3506A>C (p.Asn1169Thr)
c.3473A>C (p.Asn1158Thr)
c.2207A>C
n.612-5572T>G
c.3119A>C (p.Asn1040Thr)
c.2762A>C (p.Asn921Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242623T=CA1304945691SCN1A-AS1,SCN9Ac.3506A= (p.Asn1169=)
c.3473A= (p.Asn1158=)
c.2207A=
n.612-5572T=
c.3119A= (p.Asn1040=)
c.2762A= (p.Asn921=)
2g.166242624T>ACA349070630SCN1A-AS1,SCN9Ac.3505A>T (p.Asn1169Tyr)
c.587A>T (n.587A>T)
c.3472A>T (p.Asn1158Tyr)
c.2206A>T
n.612-5571T>A
c.3118A>T (p.Asn1040Tyr)
c.2761A>T (p.Asn921Tyr)
2g.166242624T>CCA349070631SCN1A-AS1,SCN9Ac.3505A>G (p.Asn1169Asp)
c.587A>G (n.587A>G)
c.3472A>G (p.Asn1158Asp)
c.2206A>G
n.612-5571T>C
c.3118A>G (p.Asn1040Asp)
c.2761A>G (p.Asn921Asp)
2g.166242624T>GCA349070634SCN1A-AS1,SCN9Ac.3505A>C (p.Asn1169His)
c.587A>C (n.587A>C)
c.3472A>C (p.Asn1158His)
c.2206A>C
n.612-5571T>G
c.3118A>C (p.Asn1040His)
c.2761A>C (p.Asn921His)
2g.166242625A>CCA429901395SCN1A-AS1,SCN9Ac.3504T>G (p.Val1168=)
c.586T>G (n.586T>G)
c.3471T>G (p.Val1157=)
c.2205T>G
n.612-5570A>C
c.3117T>G (p.Val1039=)
c.2760T>G (p.Val920=)
2g.166242625A>GCA429901397SCN1A-AS1,SCN9Ac.3504T>C (p.Val1168=)
c.586T>C (n.586T>C)
c.3471T>C (p.Val1157=)
c.2205T>C
n.612-5570A>G
c.3117T>C (p.Val1039=)
c.2760T>C (p.Val920=)
2g.166242625A>TCA429901399SCN1A-AS1,SCN9Ac.3504T>A (p.Val1168=)
c.586T>A (n.586T>A)
c.3471T>A (p.Val1157=)
c.2205T>A
n.612-5570A>T
c.3117T>A (p.Val1039=)
c.2760T>A (p.Val920=)
2g.166242626A>CCA349070639SCN1A-AS1,SCN9Ac.3503T>G (p.Val1168Gly)
c.585T>G (n.585T>G)
c.3470T>G (p.Val1157Gly)
c.2204T>G
n.612-5569A>C
c.3116T>G (p.Val1039Gly)
c.2759T>G (p.Val920Gly)
2g.166242626A>GCA349070640SCN1A-AS1,SCN9Ac.3503T>C (p.Val1168Ala)
c.585T>C (n.585T>C)
c.3470T>C (p.Val1157Ala)
c.2204T>C
n.612-5569A>G
c.3116T>C (p.Val1039Ala)
c.2759T>C (p.Val920Ala)
2g.166242626A>TCA349070637SCN1A-AS1,SCN9Ac.3503T>A (p.Val1168Asp)
c.585T>A (n.585T>A)
c.3470T>A (p.Val1157Asp)
c.2204T>A
n.612-5569A>T
c.3116T>A (p.Val1039Asp)
c.2759T>A (p.Val920Asp)
2g.166242627C>ACA349070643SCN1A-AS1,SCN9Ac.3502G>T (p.Val1168Phe)
c.584G>T (n.584G>T)
c.3469G>T (p.Val1157Phe)
c.2203G>T
n.612-5568C>A
c.3115G>T (p.Val1039Phe)
c.2758G>T (p.Val920Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166242627C=CA1304945694SCN1A-AS1,SCN9Ac.3502G= (p.Val1168=)
c.584G= (n.584G=)
c.3469G= (p.Val1157=)
c.2203G=
n.612-5568C=
c.3115G= (p.Val1039=)
c.2758G= (p.Val920=)
2g.166242627C>GCA349070644SCN1A-AS1,SCN9Ac.3502G>C (p.Val1168Leu)
c.584G>C (n.584G>C)
c.3469G>C (p.Val1157Leu)
c.2203G>C
n.612-5568C>G
c.3115G>C (p.Val1039Leu)
c.2758G>C (p.Val920Leu)
2g.166242627C>TCA349070647SCN1A-AS1,SCN9Ac.3502G>A (p.Val1168Ile)
c.584G>A (n.584G>A)
c.3469G>A (p.Val1157Ile)
c.2203G>A
n.612-5568C>T
c.3115G>A (p.Val1039Ile)
c.2758G>A (p.Val920Ile)
2g.166242628T>ACA349070649SCN1A-AS1,SCN9Ac.3501A>T (p.Gln1167His)
c.583A>T (n.583A>T)
c.3468A>T (p.Gln1156His)
c.2202A>T
n.612-5567T>A
c.3114A>T (p.Gln1038His)
c.2757A>T (p.Gln919His)
 gnomAD v4
2g.166242628T>CCA429901405SCN1A-AS1,SCN9Ac.3501A>G (p.Gln1167=)
c.583A>G (n.583A>G)
c.3468A>G (p.Gln1156=)
c.2202A>G
n.612-5567T>C
c.3114A>G (p.Gln1038=)
c.2757A>G (p.Gln919=)
 ClinVar dbSNP gnomAD v4
2g.166242628T>GCA349070652SCN1A-AS1,SCN9Ac.3501A>C (p.Gln1167His)
c.583A>C (n.583A>C)
c.3468A>C (p.Gln1156His)
c.2202A>C
n.612-5567T>G
c.3114A>C (p.Gln1038His)
c.2757A>C (p.Gln919His)
2g.166242628T=CA1304945695SCN1A-AS1,SCN9Ac.3501A= (p.Gln1167=)
c.583A= (n.583A=)
c.3468A= (p.Gln1156=)
c.2202A=
n.612-5567T=
c.3114A= (p.Gln1038=)
c.2757A= (p.Gln919=)
2g.166242629T>ACA349070665SCN1A-AS1,SCN9Ac.3500A>T (p.Gln1167Leu)
c.582A>T (n.582A>T)
c.3467A>T (p.Gln1156Leu)
c.2201A>T
n.612-5566T>A
c.3113A>T (p.Gln1038Leu)
c.2756A>T (p.Gln919Leu)
2g.166242629T>CCA349070662SCN1A-AS1,SCN9Ac.3500A>G (p.Gln1167Arg)
c.582A>G (n.582A>G)
c.3467A>G (p.Gln1156Arg)
c.2201A>G
n.612-5566T>C
c.3113A>G (p.Gln1038Arg)
c.2756A>G (p.Gln919Arg)
 gnomAD v4
2g.166242629T>GCA349070663SCN1A-AS1,SCN9Ac.3500A>C (p.Gln1167Pro)
c.582A>C (n.582A>C)
c.3467A>C (p.Gln1156Pro)
c.2201A>C
n.612-5566T>G
c.3113A>C (p.Gln1038Pro)
c.2756A>C (p.Gln919Pro)
2g.166242630G>ACA349070666SCN1A-AS1,SCN9Ac.3499C>T (p.Gln1167Ter)
c.581C>T (n.581C>T)
c.3466C>T (p.Gln1156Ter)
c.2200C>T
n.612-5565G>A
c.3112C>T (p.Gln1038Ter)
c.2755C>T (p.Gln919Ter)
2g.166242630G>CCA349070669SCN1A-AS1,SCN9Ac.3499C>G (p.Gln1167Glu)
c.581C>G (n.581C>G)
c.3466C>G (p.Gln1156Glu)
c.2200C>G
n.612-5565G>C
c.3112C>G (p.Gln1038Glu)
c.2755C>G (p.Gln919Glu)
2g.166242630G>TCA349070670SCN1A-AS1,SCN9Ac.3499C>A (p.Gln1167Lys)
c.581C>A (n.581C>A)
c.3466C>A (p.Gln1156Lys)
c.2200C>A
n.612-5565G>T
c.3112C>A (p.Gln1038Lys)
c.2755C>A (p.Gln919Lys)
2g.166242631G>ACA429901411SCN1A-AS1,SCN9Ac.3498C>T (p.Cys1166=)
c.580C>T (n.580C>T)
c.3465C>T (p.Cys1155=)
c.2199C>T
n.612-5564G>A
c.3111C>T (p.Cys1037=)
c.2754C>T (p.Cys918=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166242631G>CCA349070673SCN1A-AS1,SCN9Ac.3498C>G (p.Cys1166Trp)
c.580C>G (n.580C>G)
c.3465C>G (p.Cys1155Trp)
c.2199C>G
n.612-5564G>C
c.3111C>G (p.Cys1037Trp)
c.2754C>G (p.Cys918Trp)
2g.166242631G=CA1304945696SCN1A-AS1,SCN9Ac.3498C= (p.Cys1166=)
c.580C= (n.580C=)
c.3465C= (p.Cys1155=)
c.2199C=
n.612-5564G=
c.3111C= (p.Cys1037=)
c.2754C= (p.Cys918=)
2g.166242631G>TCA349070674SCN1A-AS1,SCN9Ac.3498C>A (p.Cys1166Ter)
c.580C>A (n.580C>A)
c.3465C>A (p.Cys1155Ter)
c.2199C>A
n.612-5564G>T
c.3111C>A (p.Cys1037Ter)
c.2754C>A (p.Cys918Ter)
 dbSNP gnomAD v4
2g.166242632C>ACA349070677SCN1A-AS1,SCN9Ac.3497G>T (p.Cys1166Phe)
c.579G>T (n.579G>T)
c.3464G>T (p.Cys1155Phe)
c.2198G>T
n.612-5563C>A
c.3110G>T (p.Cys1037Phe)
c.2753G>T (p.Cys918Phe)
2g.166242632C=CA1304945698SCN1A-AS1,SCN9Ac.3497G= (p.Cys1166=)
c.579G= (n.579G=)
c.3464G= (p.Cys1155=)
c.2198G=
n.612-5563C=
c.3110G= (p.Cys1037=)
c.2753G= (p.Cys918=)
2g.166242632C>GCA349070684SCN1A-AS1,SCN9Ac.3497G>C (p.Cys1166Ser)
c.579G>C (n.579G>C)
c.3464G>C (p.Cys1155Ser)
c.2198G>C
n.612-5563C>G
c.3110G>C (p.Cys1037Ser)
c.2753G>C (p.Cys918Ser)
2g.166242632C>TCA1944037SCN1A-AS1,SCN9Ac.3497G>A (p.Cys1166Tyr)
c.579G>A (n.579G>A)
c.3464G>A (p.Cys1155Tyr)
c.2198G>A
n.612-5563C>T
c.3110G>A (p.Cys1037Tyr)
c.2753G>A (p.Cys918Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242633A>CCA349070687SCN1A-AS1,SCN9Ac.3496T>G (p.Cys1166Gly)
c.578T>G (n.578T>G)
c.3463T>G (p.Cys1155Gly)
c.2197T>G
n.612-5562A>C
c.3109T>G (p.Cys1037Gly)
c.2752T>G (p.Cys918Gly)
 gnomAD v4
2g.166242633A>GCA349070689SCN1A-AS1,SCN9Ac.3496T>C (p.Cys1166Arg)
c.578T>C (n.578T>C)
c.3463T>C (p.Cys1155Arg)
c.2197T>C
n.612-5562A>G
c.3109T>C (p.Cys1037Arg)
c.2752T>C (p.Cys918Arg)
2g.166242633A>TCA349070692SCN1A-AS1,SCN9Ac.3496T>A (p.Cys1166Ser)
c.578T>A (n.578T>A)
c.3463T>A (p.Cys1155Ser)
c.2197T>A
n.612-5562A>T
c.3109T>A (p.Cys1037Ser)
c.2752T>A (p.Cys918Ser)
2g.166242634G>ACA429901413SCN1A-AS1,SCN9Ac.3495C>T (p.Cys1165=)
c.577C>T (n.577C>T)
c.3462C>T (p.Cys1154=)
c.2196C>T
n.612-5561G>A
c.3108C>T (p.Cys1036=)
c.2751C>T (p.Cys917=)
 gnomAD v4
2g.166242634G>CCA349070696SCN1A-AS1,SCN9Ac.3495C>G (p.Cys1165Trp)
c.577C>G (n.577C>G)
c.3462C>G (p.Cys1154Trp)
c.2196C>G
n.612-5561G>C
c.3108C>G (p.Cys1036Trp)
c.2751C>G (p.Cys917Trp)
2g.166242634G>TCA349070699SCN1A-AS1,SCN9Ac.3495C>A (p.Cys1165Ter)
c.577C>A (n.577C>A)
c.3462C>A (p.Cys1154Ter)
c.2196C>A
n.612-5561G>T
c.3108C>A (p.Cys1036Ter)
c.2751C>A (p.Cys917Ter)
2g.166242635C>ACA349070700SCN1A-AS1,SCN9Ac.3494G>T (p.Cys1165Phe)
c.576G>T (n.576G>T)
c.3461G>T (p.Cys1154Phe)
c.2195G>T
n.612-5560C>A
c.3107G>T (p.Cys1036Phe)
c.2750G>T (p.Cys917Phe)
 gnomAD v4
2g.166242635C>GCA349070703SCN1A-AS1,SCN9Ac.3494G>C (p.Cys1165Ser)
c.576G>C (n.576G>C)
c.3461G>C (p.Cys1154Ser)
c.2195G>C
n.612-5560C>G
c.3107G>C (p.Cys1036Ser)
c.2750G>C (p.Cys917Ser)
2g.166242635C>TCA349070707SCN1A-AS1,SCN9Ac.3494G>A (p.Cys1165Tyr)
c.576G>A (n.576G>A)
c.3461G>A (p.Cys1154Tyr)
c.2195G>A
n.612-5560C>T
c.3107G>A (p.Cys1036Tyr)
c.2750G>A (p.Cys917Tyr)
 gnomAD v4
2g.166242636A=CA1304945701SCN1A-AS1,SCN9Ac.3493T= (p.Cys1165=)
c.575T= (n.575T=)
c.3460T= (p.Cys1154=)
c.2194T=
n.612-5559A=
c.3106T= (p.Cys1036=)
c.2749T= (p.Cys917=)
2g.166242636A>CCA349070710SCN1A-AS1,SCN9Ac.3493T>G (p.Cys1165Gly)
c.575T>G (n.575T>G)
c.3460T>G (p.Cys1154Gly)
c.2194T>G
n.612-5559A>C
c.3106T>G (p.Cys1036Gly)
c.2749T>G (p.Cys917Gly)
2g.166242636A>GCA349070711SCN1A-AS1,SCN9Ac.3493T>C (p.Cys1165Arg)
c.575T>C (n.575T>C)
c.3460T>C (p.Cys1154Arg)
c.2194T>C
n.612-5559A>G
c.3106T>C (p.Cys1036Arg)
c.2749T>C (p.Cys917Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.166242636A>TCA349070712SCN1A-AS1,SCN9Ac.3493T>A (p.Cys1165Ser)
c.575T>A (n.575T>A)
c.3460T>A (p.Cys1154Ser)
c.2194T>A
n.612-5559A>T
c.3106T>A (p.Cys1036Ser)
c.2749T>A (p.Cys917Ser)
2g.166242636dupCA2753023285SCN1A-AS1,SCN9Ac.3493dup (p.Cys1165LeufsTer5)
c.575dup (n.575dup)
c.3460dup (p.Cys1154LeufsTer5)
c.2194dup
n.612-5559dup
c.3106dup (p.Cys1036LeufsTer5)
c.2749dup (p.Cys917LeufsTer5)
2g.166242637T>ACA429901417SCN1A-AS1,SCN9Ac.3492A>T (p.Ser1164=)
c.574A>T (n.574A>T)
c.3459A>T (p.Ser1153=)
c.2193A>T
n.612-5558T>A
c.3105A>T (p.Ser1035=)
c.2748A>T (p.Ser916=)
2g.166242637T>CCA429901418SCN1A-AS1,SCN9Ac.3492A>G (p.Ser1164=)
c.574A>G (n.574A>G)
c.3459A>G (p.Ser1153=)
c.2193A>G
n.612-5558T>C
c.3105A>G (p.Ser1035=)
c.2748A>G (p.Ser916=)
 dbSNP gnomAD v4
2g.166242637T>GCA429901419SCN1A-AS1,SCN9Ac.3492A>C (p.Ser1164=)
c.574A>C (n.574A>C)
c.3459A>C (p.Ser1153=)
c.2193A>C
n.612-5558T>G
c.3105A>C (p.Ser1035=)
c.2748A>C (p.Ser916=)
 ClinVar dbSNP gnomAD v4
2g.166242637T=CA1304945702SCN1A-AS1,SCN9Ac.3492A= (p.Ser1164=)
c.574A= (n.574A=)
c.3459A= (p.Ser1153=)
c.2193A=
n.612-5558T=
c.3105A= (p.Ser1035=)
c.2748A= (p.Ser916=)
2g.166242638G>ACA349070718SCN1A-AS1,SCN9Ac.3491C>T (p.Ser1164Leu)
c.573C>T (n.573C>T)
c.3458C>T (p.Ser1153Leu)
c.2192C>T
n.612-5557G>A
c.3104C>T (p.Ser1035Leu)
c.2747C>T (p.Ser916Leu)
 dbSNP gnomAD v4
2g.166242638G>CCA349070721SCN1A-AS1,SCN9Ac.3491C>G (p.Ser1164Ter)
c.573C>G (n.573C>G)
c.3458C>G (p.Ser1153Ter)
c.2192C>G
n.612-5557G>C
c.3104C>G (p.Ser1035Ter)
c.2747C>G (p.Ser916Ter)
2g.166242638G=CA1304945704SCN1A-AS1,SCN9Ac.3491C= (p.Ser1164=)
c.573C= (n.573C=)
c.3458C= (p.Ser1153=)
c.2192C=
n.612-5557G=
c.3104C= (p.Ser1035=)
c.2747C= (p.Ser916=)
2g.166242638G>TCA349070715SCN1A-AS1,SCN9Ac.3491C>A (p.Ser1164Ter)
c.573C>A (n.573C>A)
c.3458C>A (p.Ser1153Ter)
c.2192C>A
n.612-5557G>T
c.3104C>A (p.Ser1035Ter)
c.2747C>A (p.Ser916Ter)
 gnomAD v4
2g.166242639A>CCA349070727SCN1A-AS1,SCN9Ac.3490T>G (p.Ser1164Ala)
c.572T>G (n.572T>G)
c.3457T>G (p.Ser1153Ala)
c.2191T>G
n.612-5556A>C
c.3103T>G (p.Ser1035Ala)
c.2746T>G (p.Ser916Ala)
2g.166242639A>GCA349070723SCN1A-AS1,SCN9Ac.3490T>C (p.Ser1164Pro)
c.572T>C (n.572T>C)
c.3457T>C (p.Ser1153Pro)
c.2191T>C
n.612-5556A>G
c.3103T>C (p.Ser1035Pro)
c.2746T>C (p.Ser916Pro)
 gnomAD v4
2g.166242639A>TCA349070724SCN1A-AS1,SCN9Ac.3490T>A (p.Ser1164Thr)
c.572T>A (n.572T>A)
c.3457T>A (p.Ser1153Thr)
c.2191T>A
n.612-5556A>T
c.3103T>A (p.Ser1035Thr)
c.2746T>A (p.Ser916Thr)
 gnomAD v4
2g.166242640G>ACA429901421SCN1A-AS1,SCN9Ac.3489C>T (p.Phe1163=)
c.571C>T (n.571C>T)
c.3456C>T (p.Phe1152=)
c.2190C>T
n.612-5555G>A
c.3102C>T (p.Phe1034=)
c.2745C>T (p.Phe915=)
 ClinVar dbSNP gnomAD v4
2g.166242640G>CCA349070730SCN1A-AS1,SCN9Ac.3489C>G (p.Phe1163Leu)
c.571C>G (n.571C>G)
c.3456C>G (p.Phe1152Leu)
c.2190C>G
n.612-5555G>C
c.3102C>G (p.Phe1034Leu)
c.2745C>G (p.Phe915Leu)
2g.166242640G=CA1304945707SCN1A-AS1,SCN9Ac.3489C= (p.Phe1163=)
c.571C= (n.571C=)
c.3456C= (p.Phe1152=)
c.2190C=
n.612-5555G=
c.3102C= (p.Phe1034=)
c.2745C= (p.Phe915=)
2g.166242640G>TCA349070733SCN1A-AS1,SCN9Ac.3489C>A (p.Phe1163Leu)
c.571C>A (n.571C>A)
c.3456C>A (p.Phe1152Leu)
c.2190C>A
n.612-5555G>T
c.3102C>A (p.Phe1034Leu)
c.2745C>A (p.Phe915Leu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.166242641A>CCA349070736SCN1A-AS1,SCN9Ac.3488T>G (p.Phe1163Cys)
c.570T>G (n.570T>G)
c.3455T>G (p.Phe1152Cys)
c.2189T>G
n.612-5554A>C
c.3101T>G (p.Phe1034Cys)
c.2744T>G (p.Phe915Cys)
2g.166242641A>GCA349070738SCN1A-AS1,SCN9Ac.3488T>C (p.Phe1163Ser)
c.570T>C (n.570T>C)
c.3455T>C (p.Phe1152Ser)
c.2189T>C
n.612-5554A>G
c.3101T>C (p.Phe1034Ser)
c.2744T>C (p.Phe915Ser)
 ClinVar
2g.166242641A>TCA349070739SCN1A-AS1,SCN9Ac.3488T>A (p.Phe1163Tyr)
c.570T>A (n.570T>A)
c.3455T>A (p.Phe1152Tyr)
c.2189T>A
n.612-5554A>T
c.3101T>A (p.Phe1034Tyr)
c.2744T>A (p.Phe915Tyr)
2g.166242642A>CCA349070742SCN1A-AS1,SCN9Ac.3487T>G (p.Phe1163Val)
c.569T>G (n.569T>G)
c.3454T>G (p.Phe1152Val)
c.2188T>G
n.612-5553A>C
c.3100T>G (p.Phe1034Val)
c.2743T>G (p.Phe915Val)
2g.166242642A>GCA349070745SCN1A-AS1,SCN9Ac.3487T>C (p.Phe1163Leu)
c.569T>C (n.569T>C)
c.3454T>C (p.Phe1152Leu)
c.2188T>C
n.612-5553A>G
c.3100T>C (p.Phe1034Leu)
c.2743T>C (p.Phe915Leu)
2g.166242642A>TCA349070748SCN1A-AS1,SCN9Ac.3487T>A (p.Phe1163Ile)
c.569T>A (n.569T>A)
c.3454T>A (p.Phe1152Ile)
c.2188T>A
n.612-5553A>T
c.3100T>A (p.Phe1034Ile)
c.2743T>A (p.Phe915Ile)
2g.166242643C>ACA349070752SCN1A-AS1,SCN9Ac.3486G>T (p.Arg1162Ser)
c.568G>T (n.568G>T)
c.3453G>T (p.Arg1151Ser)
c.2187G>T
n.612-5552C>A
c.3099G>T (p.Arg1033Ser)
c.2742G>T (p.Arg914Ser)
2g.166242643C>GCA349070754SCN1A-AS1,SCN9Ac.3486G>C (p.Arg1162Ser)
c.568G>C (n.568G>C)
c.3453G>C (p.Arg1151Ser)
c.2187G>C
n.612-5552C>G
c.3099G>C (p.Arg1033Ser)
c.2742G>C (p.Arg914Ser)
2g.166242643C>TCA429901425SCN1A-AS1,SCN9Ac.3486G>A (p.Arg1162=)
c.568G>A (n.568G>A)
c.3453G>A (p.Arg1151=)
c.2187G>A
n.612-5552C>T
c.3099G>A (p.Arg1033=)
c.2742G>A (p.Arg914=)
2g.166242644C>ACA349070762SCN1A-AS1,SCN9Ac.3485G>T (p.Arg1162Met)
c.567G>T (n.567G>T)
c.3452G>T (p.Arg1151Met)
c.2186G>T
n.612-5551C>A
c.3098G>T (p.Arg1033Met)
c.2741G>T (p.Arg914Met)
2g.166242644C=CA1304945710SCN1A-AS1,SCN9Ac.3485G= (p.Arg1162=)
c.567G= (n.567G=)
c.3452G= (p.Arg1151=)
c.2186G=
n.612-5551C=
c.3098G= (p.Arg1033=)
c.2741G= (p.Arg914=)
2g.166242644C>GCA349070759SCN1A-AS1,SCN9Ac.3485G>C (p.Arg1162Thr)
c.567G>C (n.567G>C)
c.3452G>C (p.Arg1151Thr)
c.2186G>C
n.612-5551C>G
c.3098G>C (p.Arg1033Thr)
c.2741G>C (p.Arg914Thr)
2g.166242644C>TCA349070756SCN1A-AS1,SCN9Ac.3485G>A (p.Arg1162Lys)
c.567G>A (n.567G>A)
c.3452G>A (p.Arg1151Lys)
c.2186G>A
n.612-5551C>T
c.3098G>A (p.Arg1033Lys)
c.2741G>A (p.Arg914Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.166242645T>ACA1944038SCN1A-AS1,SCN9Ac.3484A>T (p.Arg1162Trp)
c.566A>T (n.566A>T)
c.3451A>T (p.Arg1151Trp)
c.2185A>T
n.612-5550T>A
c.3097A>T (p.Arg1033Trp)
c.2740A>T (p.Arg914Trp)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.166242645T>CCA349070782SCN1A-AS1,SCN9Ac.3484A>G (p.Arg1162Gly)
c.566A>G (n.566A>G)
c.3451A>G (p.Arg1151Gly)
c.2185A>G
n.612-5550T>C
c.3097A>G (p.Arg1033Gly)
c.2740A>G (p.Arg914Gly)
2g.166242645T>GCA429901427SCN1A-AS1,SCN9Ac.3484A>C (p.Arg1162=)
c.566A>C (n.566A>C)
c.3451A>C (p.Arg1151=)
c.2185A>C
n.612-5550T>G
c.3097A>C (p.Arg1033=)
c.2740A>C (p.Arg914=)
2g.166242645T=CA1304945712SCN1A-AS1,SCN9Ac.3484A= (p.Arg1162=)
c.566A= (n.566A=)
c.3451A= (p.Arg1151=)
c.2185A=
n.612-5550T=
c.3097A= (p.Arg1033=)
c.2740A= (p.Arg914=)
2g.166242646C>ACA349070783SCN1A-AS1,SCN9Ac.3483G>T (p.Trp1161Cys)
c.565G>T (n.565G>T)
c.3450G>T (p.Trp1150Cys)
c.2184G>T
c.3450G>T (p.Arg1150=)
n.612-5549C>A
c.3096G>T (p.Trp1032Cys)
c.2739G>T (p.Trp913Cys)
2g.166242646C=CA1304945713SCN1A-AS1,SCN9Ac.3483G= (p.Trp1161=)
c.565G= (n.565G=)
c.3450G= (p.Trp1150=)
c.2184G=
c.3450G= (p.Arg1150=)
n.612-5549C=
c.3096G= (p.Trp1032=)
c.2739G= (p.Trp913=)
2g.166242646C>GCA349070785SCN1A-AS1,SCN9Ac.3483G>C (p.Trp1161Cys)
c.565G>C (n.565G>C)
c.3450G>C (p.Trp1150Cys)
c.2184G>C
c.3450G>C (p.Arg1150=)
n.612-5549C>G
c.3096G>C (p.Trp1032Cys)
c.2739G>C (p.Trp913Cys)
2g.166242646C>TCA59814627SCN1A-AS1,SCN9Ac.3483G>A (p.Trp1161Ter)
c.565G>A (n.565G>A)
c.3450G>A (p.Trp1150Ter)
c.2184G>A
c.3450G>A (p.Arg1150=)
n.612-5549C>T
c.3096G>A (p.Trp1032Ter)
c.2739G>A (p.Trp913Ter)
 dbSNP
2g.166242647delCA2577144904SCN1A-AS1,SCN9Ac.3483del (p.Trp1161Ter)
c.565del (n.565del)
c.3450del (p.Trp1150Ter)
c.2184del
c.3450del (p.Arg1151GlyfsTer9)
n.612-5548del
c.3096del (p.Trp1032Ter)
c.2739del (p.Trp913Ter)
2g.166242647C>ACA349070791SCN1A-AS1,SCN9Ac.3482G>T (p.Trp1161Leu)
c.564G>T (n.564G>T)
c.3449G>T (p.Trp1150Leu)
c.2183G>T
c.3449G>T (p.Arg1150Leu)
n.612-5548C>A
c.3095G>T (p.Trp1032Leu)
c.2738G>T (p.Trp913Leu)
2g.166242647C=CA1304945717SCN1A-AS1,SCN9Ac.3482G= (p.Trp1161=)
c.564G= (n.564G=)
c.3449G= (p.Trp1150=)
c.2183G=
c.3449G= (p.Arg1150=)
n.612-5548C=
c.3095G= (p.Trp1032=)
c.2738G= (p.Trp913=)
2g.166242647C>GCA349070792SCN1A-AS1,SCN9Ac.3482G>C (p.Trp1161Ser)
c.564G>C (n.564G>C)
c.3449G>C (p.Trp1150Ser)
c.2183G>C
c.3449G>C (p.Arg1150Pro)
n.612-5548C>G
c.3095G>C (p.Trp1032Ser)
c.2738G>C (p.Trp913Ser)
2g.166242647C>TCA1944039SCN1A-AS1,SCN9Ac.3482G>A (p.Trp1161Ter)
c.564G>A (n.564G>A)
c.3449G>A (p.Trp1150Ter)
c.2183G>A
c.3449G>A (p.Arg1150Gln)
n.612-5548C>T
c.3095G>A (p.Trp1032Ter)
c.2738G>A (p.Trp913Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166242647_166242648delinsTGCA2573133533SCN1A-AS1,SCN9Ac.3481_3482delinsCA (p.Trp1161Gln)
c.563_564delinsCA (n.563_564delinsCA)
c.3448_3449delinsCA (p.Trp1150Gln)
c.2182_2183delinsCA
n.612-5548_612-5547delinsTG
c.3094_3095delinsCA (p.Trp1032Gln)
c.2737_2738delinsCA (p.Trp913Gln)
 ClinVar
2g.166242648A=CA341939SCN1A-AS1,SCN9Ac.3481T= (p.Trp1161=)
c.563T= (n.563T=)
c.3448T= (p.Trp1150=)
c.2182T=
n.612-5547A=
c.3094T= (p.Trp1032=)
c.2737T= (p.Trp913=)
2g.166242648A>CCA349070802SCN1A-AS1,SCN9Ac.3481T>G (p.Trp1161Gly)
c.563T>G (n.563T>G)
c.3448T>G (p.Trp1150Gly)
c.2182T>G
n.612-5547A>C
c.3094T>G (p.Trp1032Gly)
c.2737T>G (p.Trp913Gly)
 dbSNP
2g.166242648A>GCA1944040SCN1A-AS1,SCN9Ac.3481T>C (p.Trp1161Arg)
c.563T>C (n.563T>C)
c.3448T>C (p.Trp1150Arg)
c.2182T>C
n.612-5547A>G
c.3094T>C (p.Trp1032Arg)
c.2737T>C (p.Trp913Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242648A>TCA349070804SCN1A-AS1,SCN9Ac.3481T>A (p.Trp1161Arg)
c.563T>A (n.563T>A)
c.3448T>A (p.Trp1150Arg)
c.2182T>A
n.612-5547A>T
c.3094T>A (p.Trp1032Arg)
c.2737T>A (p.Trp913Arg)
 gnomAD v4
2g.166242649T>ACA429901430SCN1A-AS1,SCN9Ac.3480A>T (p.Val1160=)
c.562A>T (n.562A>T)
c.3447A>T (p.Val1149=)
c.2181A>T
n.612-5546T>A
c.3093A>T (p.Val1031=)
c.2736A>T (p.Val912=)
 dbSNP gnomAD v3 gnomAD v4
2g.166242649T>CCA429901431SCN1A-AS1,SCN9Ac.3480A>G (p.Val1160=)
c.562A>G (n.562A>G)
c.3447A>G (p.Val1149=)
c.2181A>G
n.612-5546T>C
c.3093A>G (p.Val1031=)
c.2736A>G (p.Val912=)
 dbSNP gnomAD v4
2g.166242649T>GCA429901432SCN1A-AS1,SCN9Ac.3480A>C (p.Val1160=)
c.562A>C (n.562A>C)
c.3447A>C (p.Val1149=)
c.2181A>C
n.612-5546T>G
c.3093A>C (p.Val1031=)
c.2736A>C (p.Val912=)
2g.166242649T=CA1304945724SCN1A-AS1,SCN9Ac.3480A= (p.Val1160=)
c.562A= (n.562A=)
c.3447A= (p.Val1149=)
c.2181A=
n.612-5546T=
c.3093A= (p.Val1031=)
c.2736A= (p.Val912=)
2g.166242650A>CCA349070813SCN1A-AS1,SCN9Ac.3479T>G (p.Val1160Gly)
c.561T>G (n.561T>G)
c.3446T>G (p.Val1149Gly)
c.2180T>G
n.612-5545A>C
c.3092T>G (p.Val1031Gly)
c.2735T>G (p.Val912Gly)
2g.166242650A>GCA349070811SCN1A-AS1,SCN9Ac.3479T>C (p.Val1160Ala)
c.561T>C (n.561T>C)
c.3446T>C (p.Val1149Ala)
c.2180T>C
n.612-5545A>G
c.3092T>C (p.Val1031Ala)
c.2735T>C (p.Val912Ala)
 gnomAD v4
2g.166242650A>TCA349070806SCN1A-AS1,SCN9Ac.3479T>A (p.Val1160Glu)
c.561T>A (n.561T>A)
c.3446T>A (p.Val1149Glu)
c.2180T>A
n.612-5545A>T
c.3092T>A (p.Val1031Glu)
c.2735T>A (p.Val912Glu)
2g.166242651C>ACA349070815SCN1A-AS1,SCN9Ac.3478G>T (p.Val1160Leu)
c.560G>T (n.560G>T)
c.3445G>T (p.Val1149Leu)
c.2179G>T
n.612-5544C>A
c.3091G>T (p.Val1031Leu)
c.2734G>T (p.Val912Leu)
 gnomAD v4
2g.166242651C=CA1304945727SCN1A-AS1,SCN9Ac.3478G= (p.Val1160=)
c.560G= (n.560G=)
c.3445G= (p.Val1149=)
c.2179G=
n.612-5544C=
c.3091G= (p.Val1031=)
c.2734G= (p.Val912=)
2g.166242651C>GCA349070818SCN1A-AS1,SCN9Ac.3478G>C (p.Val1160Leu)
c.560G>C (n.560G>C)
c.3445G>C (p.Val1149Leu)
c.2179G>C
n.612-5544C>G
c.3091G>C (p.Val1031Leu)
c.2734G>C (p.Val912Leu)
 gnomAD v4
2g.166242651C>TCA349070821SCN1A-AS1,SCN9Ac.3478G>A (p.Val1160Ile)
c.560G>A (n.560G>A)
c.3445G>A (p.Val1149Ile)
c.2179G>A
n.612-5544C>T
c.3091G>A (p.Val1031Ile)
c.2734G>A (p.Val912Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166242652A=CA1304945730SCN1A-AS1,SCN9Ac.3477T= (p.Cys1159=)
c.559T= (n.559T=)
c.3444T= (p.Cys1148=)
c.2178T=
n.612-5543A=
c.3090T= (p.Cys1030=)
c.2733T= (p.Cys911=)
2g.166242652A>CCA349070824SCN1A-AS1,SCN9Ac.3477T>G (p.Cys1159Trp)
c.559T>G (n.559T>G)
c.3444T>G (p.Cys1148Trp)
c.2178T>G
n.612-5543A>C
c.3090T>G (p.Cys1030Trp)
c.2733T>G (p.Cys911Trp)
2g.166242652A>GCA429901433SCN1A-AS1,SCN9Ac.3477T>C (p.Cys1159=)
c.559T>C (n.559T>C)
c.3444T>C (p.Cys1148=)
c.2178T>C
n.612-5543A>G
c.3090T>C (p.Cys1030=)
c.2733T>C (p.Cys911=)
 dbSNP gnomAD v2 gnomAD v4
2g.166242652A>TCA349070825SCN1A-AS1,SCN9Ac.3477T>A (p.Cys1159Ter)
c.559T>A (n.559T>A)
c.3444T>A (p.Cys1148Ter)
c.2178T>A
n.612-5543A>T
c.3090T>A (p.Cys1030Ter)
c.2733T>A (p.Cys911Ter)
 dbSNP
2g.166242653C>ACA349070827SCN1A-AS1,SCN9Ac.3476G>T (p.Cys1159Phe)
c.558G>T (n.558G>T)
c.3443G>T (p.Cys1148Phe)
c.2177G>T
n.612-5542C>A
c.3089G>T (p.Cys1030Phe)
c.2732G>T (p.Cys911Phe)
 gnomAD v4
2g.166242653C=CA1304945734SCN1A-AS1,SCN9Ac.3476G= (p.Cys1159=)
c.558G= (n.558G=)
c.3443G= (p.Cys1148=)
c.2177G=
n.612-5542C=
c.3089G= (p.Cys1030=)
c.2732G= (p.Cys911=)
2g.166242653C>GCA349070826SCN1A-AS1,SCN9Ac.3476G>C (p.Cys1159Ser)
c.558G>C (n.558G>C)
c.3443G>C (p.Cys1148Ser)
c.2177G>C
n.612-5542C>G
c.3089G>C (p.Cys1030Ser)
c.2732G>C (p.Cys911Ser)
2g.166242653C>TCA59814631SCN1A-AS1,SCN9Ac.3476G>A (p.Cys1159Tyr)
c.558G>A (n.558G>A)
c.3443G>A (p.Cys1148Tyr)
c.2177G>A
n.612-5542C>T
c.3089G>A (p.Cys1030Tyr)
c.2732G>A (p.Cys911Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242654A>CCA349070829SCN1A-AS1,SCN9Ac.3475T>G (p.Cys1159Gly)
c.557T>G (n.557T>G)
c.3442T>G (p.Cys1148Gly)
c.2176T>G
n.612-5541A>C
c.3088T>G (p.Cys1030Gly)
c.2731T>G (p.Cys911Gly)
2g.166242654A>GCA349070831SCN1A-AS1,SCN9Ac.3475T>C (p.Cys1159Arg)
c.557T>C (n.557T>C)
c.3442T>C (p.Cys1148Arg)
c.2176T>C
n.612-5541A>G
c.3088T>C (p.Cys1030Arg)
c.2731T>C (p.Cys911Arg)
2g.166242654A>TCA349070833SCN1A-AS1,SCN9Ac.3475T>A (p.Cys1159Ser)
c.557T>A (n.557T>A)
c.3442T>A (p.Cys1148Ser)
c.2176T>A
n.612-5541A>T
c.3088T>A (p.Cys1030Ser)
c.2731T>A (p.Cys911Ser)
2g.166242655A>CCA429901435SCN1A-AS1,SCN9Ac.3474T>G (p.Gly1158=)
c.556T>G (n.556T>G)
c.3441T>G (p.Gly1147=)
c.2175T>G
n.612-5540A>C
c.3087T>G (p.Gly1029=)
c.2730T>G (p.Gly910=)
2g.166242655A>GCA429901437SCN1A-AS1,SCN9Ac.3474T>C (p.Gly1158=)
c.556T>C (n.556T>C)
c.3441T>C (p.Gly1147=)
c.2175T>C
n.612-5540A>G
c.3087T>C (p.Gly1029=)
c.2730T>C (p.Gly910=)
2g.166242655A>TCA429901438SCN1A-AS1,SCN9Ac.3474T>A (p.Gly1158=)
c.556T>A (n.556T>A)
c.3441T>A (p.Gly1147=)
c.2175T>A
n.612-5540A>T
c.3087T>A (p.Gly1029=)
c.2730T>A (p.Gly910=)
2g.166242656C>ACA349070835SCN1A-AS1,SCN9Ac.3473G>T (p.Gly1158Val)
c.555G>T (n.555G>T)
c.3440G>T (p.Gly1147Val)
c.2174G>T
n.612-5539C>A
c.3086G>T (p.Gly1029Val)
c.2729G>T (p.Gly910Val)
2g.166242656C=CA1304945736SCN1A-AS1,SCN9Ac.3473G= (p.Gly1158=)
c.555G= (n.555G=)
c.3440G= (p.Gly1147=)
c.2174G=
n.612-5539C=
c.3086G= (p.Gly1029=)
c.2729G= (p.Gly910=)
2g.166242656C>GCA349070836SCN1A-AS1,SCN9Ac.3473G>C (p.Gly1158Ala)
c.555G>C (n.555G>C)
c.3440G>C (p.Gly1147Ala)
c.2174G>C
n.612-5539C>G
c.3086G>C (p.Gly1029Ala)
c.2729G>C (p.Gly910Ala)
 gnomAD v4
2g.166242656C>TCA349070838SCN1A-AS1,SCN9Ac.3473G>A (p.Gly1158Asp)
c.555G>A (n.555G>A)
c.3440G>A (p.Gly1147Asp)
c.2174G>A
n.612-5539C>T
c.3086G>A (p.Gly1029Asp)
c.2729G>A (p.Gly910Asp)
 dbSNP gnomAD v4
2g.166242657C>ACA1944041SCN1A-AS1,SCN9Ac.3473-1G>T (n.3473-1G>T)
c.555-1G>T (n.555-1G>T)
c.3440-1G>T (n.3440-1G>T)
c.2174-1G>T
n.612-5538C>A
c.3086-1G>T (n.3086-1G>T)
c.2729-1G>T (n.2729-1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166242657C=CA1304945741SCN1A-AS1,SCN9Ac.3473-1G= (n.3473-1G=)
c.555-1G= (n.555-1G=)
c.3440-1G= (n.3440-1G=)
c.2174-1G=
n.612-5538C=
c.3086-1G= (n.3086-1G=)
c.2729-1G= (n.2729-1G=)
2g.166242657C>GCA349070847SCN1A-AS1,SCN9Ac.3473-1G>C (n.3473-1G>C)
c.555-1G>C (n.555-1G>C)
c.3440-1G>C (n.3440-1G>C)
c.2174-1G>C
n.612-5538C>G
c.3086-1G>C (n.3086-1G>C)
c.2729-1G>C (n.2729-1G>C)
 gnomAD v4
2g.166242657C>TCA349070845SCN1A-AS1,SCN9Ac.3473-1G>A (n.3473-1G>A)
c.555-1G>A (n.555-1G>A)
c.3440-1G>A (n.3440-1G>A)
c.2174-1G>A
n.612-5538C>T
c.3086-1G>A (n.3086-1G>A)
c.2729-1G>A (n.2729-1G>A)
2g.166242658T>ACA349070849SCN1A-AS1,SCN9Ac.3473-2A>T (n.3473-2A>T)
c.555-2A>T (n.555-2A>T)
c.3440-2A>T (n.3440-2A>T)
c.2174-2A>T
n.612-5537T>A
c.3086-2A>T (n.3086-2A>T)
c.2729-2A>T (n.2729-2A>T)
2g.166242658T>CCA349070856SCN1A-AS1,SCN9Ac.3473-2A>G (n.3473-2A>G)
c.555-2A>G (n.555-2A>G)
c.3440-2A>G (n.3440-2A>G)
c.2174-2A>G
n.612-5537T>C
c.3086-2A>G (n.3086-2A>G)
c.2729-2A>G (n.2729-2A>G)
 gnomAD v4
2g.166242658T>GCA349070858SCN1A-AS1,SCN9Ac.3473-2A>C (n.3473-2A>C)
c.555-2A>C (n.555-2A>C)
c.3440-2A>C (n.3440-2A>C)
c.2174-2A>C
n.612-5537T>G
c.3086-2A>C (n.3086-2A>C)
c.2729-2A>C (n.2729-2A>C)
2g.166242659G>CCA2661766117SCN1A-AS1,SCN9Ac.3473-3C>G (n.3473-3C>G)
c.555-3C>G (n.555-3C>G)
c.3440-3C>G (n.3440-3C>G)
c.2174-3C>G
n.612-5536G>C
c.3086-3C>G (n.3086-3C>G)
c.2729-3C>G (n.2729-3C>G)
 gnomAD v4
2g.166242659G>TCA2661766116SCN1A-AS1,SCN9Ac.3473-3C>A (n.3473-3C>A)
c.555-3C>A (n.555-3C>A)
c.3440-3C>A (n.3440-3C>A)
c.2174-3C>A
n.612-5536G>T
c.3086-3C>A (n.3086-3C>A)
c.2729-3C>A (n.2729-3C>A)
 gnomAD v4
2g.166242660A>GCA2566856270SCN1A-AS1,SCN9Ac.3473-4T>C (n.3473-4T>C)
c.555-4T>C (n.555-4T>C)
c.3440-4T>C (n.3440-4T>C)
c.2174-4T>C
n.612-5535A>G
c.3086-4T>C (n.3086-4T>C)
c.2729-4T>C (n.2729-4T>C)
2g.166242661C>ACA2661766118SCN1A-AS1,SCN9Ac.3473-5G>T (n.3473-5G>T)
c.555-5G>T (n.555-5G>T)
c.3440-5G>T (n.3440-5G>T)
c.2174-5G>T
n.612-5534C>A
c.3086-5G>T (n.3086-5G>T)
c.2729-5G>T (n.2729-5G>T)
 gnomAD v4
2g.166242661C>GCA2661766119SCN1A-AS1,SCN9Ac.3473-5G>C (n.3473-5G>C)
c.555-5G>C (n.555-5G>C)
c.3440-5G>C (n.3440-5G>C)
c.2174-5G>C
n.612-5534C>G
c.3086-5G>C (n.3086-5G>C)
c.2729-5G>C (n.2729-5G>C)
 gnomAD v4

Number of alleles fetched