Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166276951A=CA1304964634SCN1A-AS1,SCN9Ac.2874+32T= (n.2874+32T=)
c.2841+32T= (n.2841+32T=)
c.563T= (p.Phe188=)
c.1876+32T=
n.870-137A=
c.2487+32T= (n.2487+32T=)
c.2130+32T= (n.2130+32T=)
n.3188+32T=
2g.166276951A>CCA760208942SCN1A-AS1,SCN9Ac.2874+32T>G (n.2874+32T>G)
c.2841+32T>G (n.2841+32T>G)
c.563T>G (p.Phe188Cys)
c.1876+32T>G
n.870-137A>C
c.2487+32T>G (n.2487+32T>G)
c.2130+32T>G (n.2130+32T>G)
n.3188+32T>G
 dbSNP
2g.166276951A>TCA2661767138SCN1A-AS1,SCN9Ac.2874+32T>A (n.2874+32T>A)
c.2841+32T>A (n.2841+32T>A)
c.563T>A (p.Phe188Tyr)
c.1876+32T>A
n.870-137A>T
c.2487+32T>A (n.2487+32T>A)
c.2130+32T>A (n.2130+32T>A)
n.3188+32T>A
 gnomAD v4
2g.166276952A>GCA2661767139SCN1A-AS1,SCN9Ac.2874+31T>C (n.2874+31T>C)
c.2841+31T>C (n.2841+31T>C)
c.562T>C (p.Phe188Leu)
c.1876+31T>C
n.870-136A>G
c.2487+31T>C (n.2487+31T>C)
c.2130+31T>C (n.2130+31T>C)
n.3188+31T>C
 gnomAD v4
2g.166276954T>CCA2661767140SCN1A-AS1,SCN9Ac.2874+29A>G (n.2874+29A>G)
c.2841+29A>G (n.2841+29A>G)
c.560A>G (p.Asn187Ser)
c.1876+29A>G
n.870-134T>C
c.2487+29A>G (n.2487+29A>G)
c.2130+29A>G (n.2130+29A>G)
n.3188+29A>G
 gnomAD v4
2g.166276959delCA2661767141SCN1A-AS1,SCN9Ac.2874+27del (n.2874+27del)
c.2841+27del (n.2841+27del)
c.558del (p.Phe186LeufsTer28)
c.1876+27del
n.870-129del
c.2487+27del (n.2487+27del)
c.2130+27del (n.2130+27del)
n.3188+27del
 gnomAD v4
2g.166276959A=CA1304964635SCN1A-AS1,SCN9Ac.2874+24T= (n.2874+24T=)
c.2841+24T= (n.2841+24T=)
c.555T= (p.His185=)
c.1876+24T=
n.870-129A=
c.2487+24T= (n.2487+24T=)
c.2130+24T= (n.2130+24T=)
n.3188+24T=
2g.166276959A>GCA1944184SCN1A-AS1,SCN9Ac.2874+24T>C (n.2874+24T>C)
c.2841+24T>C (n.2841+24T>C)
c.555T>C (p.His185=)
c.1876+24T>C
n.870-129A>G
c.2487+24T>C (n.2487+24T>C)
c.2130+24T>C (n.2130+24T>C)
n.3188+24T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166276961G=CA1304964636SCN1A-AS1,SCN9Ac.2874+22C= (n.2874+22C=)
c.2841+22C= (n.2841+22C=)
c.553C= (p.His185=)
c.1876+22C=
n.870-127G=
c.2487+22C= (n.2487+22C=)
c.2130+22C= (n.2130+22C=)
n.3188+22C=
2g.166276961G>TCA59794402SCN1A-AS1,SCN9Ac.2874+22C>A (n.2874+22C>A)
c.2841+22C>A (n.2841+22C>A)
c.553C>A (p.His185Asn)
c.1876+22C>A
n.870-127G>T
c.2487+22C>A (n.2487+22C>A)
c.2130+22C>A (n.2130+22C>A)
n.3188+22C>A
 dbSNP gnomAD v4
2g.166276962C>TCA2661767142SCN1A-AS1,SCN9Ac.2874+21G>A (n.2874+21G>A)
c.2841+21G>A (n.2841+21G>A)
c.552G>A (p.Met184Ile)
c.1876+21G>A
n.870-126C>T
c.2487+21G>A (n.2487+21G>A)
c.2130+21G>A (n.2130+21G>A)
n.3188+21G>A
 dbSNP gnomAD v4
2g.166276963A=CA1304964637SCN1A-AS1,SCN9Ac.2874+20T= (n.2874+20T=)
c.2841+20T= (n.2841+20T=)
c.551T= (p.Met184=)
c.1876+20T=
n.870-125A=
c.2487+20T= (n.2487+20T=)
c.2130+20T= (n.2130+20T=)
n.3188+20T=
2g.166276963A>GCA1944185SCN1A-AS1,SCN9Ac.2874+20T>C (n.2874+20T>C)
c.2841+20T>C (n.2841+20T>C)
c.551T>C (p.Met184Thr)
c.1876+20T>C
n.870-125A>G
c.2487+20T>C (n.2487+20T>C)
c.2130+20T>C (n.2130+20T>C)
n.3188+20T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166276963A>TCA2661767143SCN1A-AS1,SCN9Ac.2874+20T>A (n.2874+20T>A)
c.2841+20T>A (n.2841+20T>A)
c.551T>A (p.Met184Lys)
c.1876+20T>A
n.870-125A>T
c.2487+20T>A (n.2487+20T>A)
c.2130+20T>A (n.2130+20T>A)
n.3188+20T>A
 gnomAD v4
2g.166276964T>CCA1944186SCN1A-AS1,SCN9Ac.2874+19A>G (n.2874+19A>G)
c.2841+19A>G (n.2841+19A>G)
c.550A>G (p.Met184Val)
c.1876+19A>G
n.870-124T>C
c.2487+19A>G (n.2487+19A>G)
c.2130+19A>G (n.2130+19A>G)
n.3188+19A>G
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.166276964T=CA1304964638SCN1A-AS1,SCN9Ac.2874+19A= (n.2874+19A=)
c.2841+19A= (n.2841+19A=)
c.550A= (p.Met184=)
c.1876+19A=
n.870-124T=
c.2487+19A= (n.2487+19A=)
c.2130+19A= (n.2130+19A=)
n.3188+19A=
2g.166276965G>ACA2701016593SCN1A-AS1,SCN9Ac.2874+18C>T (n.2874+18C>T)
c.2841+18C>T (n.2841+18C>T)
c.549C>T (p.Phe183=)
c.1876+18C>T
n.870-123G>A
c.2487+18C>T (n.2487+18C>T)
c.2130+18C>T (n.2130+18C>T)
n.3188+18C>T
 dbSNP
2g.166276965G>TCA2661767144SCN1A-AS1,SCN9Ac.2874+18C>A (n.2874+18C>A)
c.2841+18C>A (n.2841+18C>A)
c.549C>A (p.Phe183Leu)
c.1876+18C>A
n.870-123G>T
c.2487+18C>A (n.2487+18C>A)
c.2130+18C>A (n.2130+18C>A)
n.3188+18C>A
 gnomAD v4
2g.166276967A>GCA2661767145SCN1A-AS1,SCN9Ac.2874+16T>C (n.2874+16T>C)
c.2841+16T>C (n.2841+16T>C)
c.547T>C (p.Phe183Leu)
c.1876+16T>C
n.870-121A>G
c.2487+16T>C (n.2487+16T>C)
c.2130+16T>C (n.2130+16T>C)
n.3188+16T>C
 gnomAD v4
2g.166276968C=CA1304964639SCN1A-AS1,SCN9Ac.2874+15G= (n.2874+15G=)
c.2841+15G= (n.2841+15G=)
c.546G= (p.Met182=)
c.1876+15G=
n.870-120C=
c.2487+15G= (n.2487+15G=)
c.2130+15G= (n.2130+15G=)
n.3188+15G=
2g.166276968C>TCA1944187SCN1A-AS1,SCN9Ac.2874+15G>A (n.2874+15G>A)
c.2841+15G>A (n.2841+15G>A)
c.546G>A (p.Met182Ile)
c.1876+15G>A
n.870-120C>T
c.2487+15G>A (n.2487+15G>A)
c.2130+15G>A (n.2130+15G>A)
n.3188+15G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166276969A=CA1304964642SCN1A-AS1,SCN9Ac.2874+14T= (n.2874+14T=)
c.2841+14T= (n.2841+14T=)
c.545T= (p.Met182=)
c.1876+14T=
n.870-119A=
c.2487+14T= (n.2487+14T=)
c.2130+14T= (n.2130+14T=)
n.3188+14T=
2g.166276969A>GCA1304964643SCN1A-AS1,SCN9Ac.2874+14T>C (n.2874+14T>C)
c.2841+14T>C (n.2841+14T>C)
c.545T>C (p.Met182Thr)
c.1876+14T>C
n.870-119A>G
c.2487+14T>C (n.2487+14T>C)
c.2130+14T>C (n.2130+14T>C)
n.3188+14T>C
 dbSNP
2g.166276969_166276970delinsATCA1304964640SCN1A-AS1,SCN9Ac.2874+13_2874+14delinsAT (n.2874+13_2874+14delinsAT)
c.2841+13_2841+14delinsAT (n.2841+13_2841+14delinsAT)
c.544_545delinsAT (p.Met182=)
c.1876+13_1876+14delinsAT
n.870-119_870-118delinsAT
c.2487+13_2487+14delinsAT (n.2487+13_2487+14delinsAT)
c.2130+13_2130+14delinsAT (n.2130+13_2130+14delinsAT)
n.3188+13_3188+14delinsAT
2g.166276969_166276972delinsATCTCA1304964641SCN1A-AS1,SCN9Ac.2874+11_2874+14delinsAGAT (n.2874+11_2874+14delinsAGAT)
c.2841+11_2841+14delinsAGAT (n.2841+11_2841+14delinsAGAT)
c.542_545delinsAGAT (p.Gln181=)
c.1876+11_1876+14delinsAGAT
n.870-119_870-116delinsATCT
c.2487+11_2487+14delinsAGAT (n.2487+11_2487+14delinsAGAT)
c.2130+11_2130+14delinsAGAT (n.2130+11_2130+14delinsAGAT)
n.3188+11_3188+14delinsAGAT
2g.166276970delCA10612806SCN1A-AS1,SCN9Ac.2874+13del (n.2874+13del)
c.2841+13del (n.2841+13del)
c.544del (p.Met182CysfsTer?)
c.1876+13del
n.870-118del
c.2487+13del (n.2487+13del)
c.2130+13del (n.2130+13del)
n.3188+13del
 ClinVar dbSNP
2g.166276970T>ACA59794415SCN1A-AS1,SCN9Ac.2874+13A>T (n.2874+13A>T)
c.2841+13A>T (n.2841+13A>T)
c.544A>T (p.Met182Leu)
c.1876+13A>T
n.870-118T>A
c.2487+13A>T (n.2487+13A>T)
c.2130+13A>T (n.2130+13A>T)
n.3188+13A>T
 dbSNP
2g.166276970T>CCA2661767146SCN1A-AS1,SCN9Ac.2874+13A>G (n.2874+13A>G)
c.2841+13A>G (n.2841+13A>G)
c.544A>G (p.Met182Val)
c.1876+13A>G
n.870-118T>C
c.2487+13A>G (n.2487+13A>G)
c.2130+13A>G (n.2130+13A>G)
n.3188+13A>G
 gnomAD v4
2g.166276970T=CA1304964645SCN1A-AS1,SCN9Ac.2874+13A= (n.2874+13A=)
c.2841+13A= (n.2841+13A=)
c.544A= (p.Met182=)
c.1876+13A=
n.870-118T=
c.2487+13A= (n.2487+13A=)
c.2130+13A= (n.2130+13A=)
n.3188+13A=
2g.166276970dupCA2701016594SCN1A-AS1,SCN9Ac.2874+13dup (n.2874+13dup)
c.2841+13dup (n.2841+13dup)
c.544dup (p.Met182AsnfsTer6)
c.1876+13dup
n.870-118dup
c.2487+13dup (n.2487+13dup)
c.2130+13dup (n.2130+13dup)
n.3188+13dup
 dbSNP
2g.166276970_166276971delinsTCCA1304964644SCN1A-AS1,SCN9Ac.2874+12_2874+13delinsGA (n.2874+12_2874+13delinsGA)
c.2841+12_2841+13delinsGA (n.2841+12_2841+13delinsGA)
c.543_544delinsGA (p.Gln181=)
c.1876+12_1876+13delinsGA
n.870-118_870-117delinsTC
c.2487+12_2487+13delinsGA (n.2487+12_2487+13delinsGA)
c.2130+12_2130+13delinsGA (n.2130+12_2130+13delinsGA)
n.3188+12_3188+13delinsGA
2g.166276970_166276972delCA1944188SCN1A-AS1,SCN9Ac.2874+11_2874+13del (n.2874+11_2874+13del)
c.2841+11_2841+13del (n.2841+11_2841+13del)
c.542_544del (p.Gln181_Met182delinsLeu)
c.1876+11_1876+13del
n.870-118_870-116del
c.2487+11_2487+13del (n.2487+11_2487+13del)
c.2130+11_2130+13del (n.2130+11_2130+13del)
n.3188+11_3188+13del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166276970_166276972delinsAACA10586791SCN1A-AS1,SCN9Ac.2874+11_2874+13delinsTT (n.2874+11_2874+13delinsTT)
c.2841+11_2841+13delinsTT (n.2841+11_2841+13delinsTT)
c.542_544delinsTT (p.Gln181LeufsTer?)
c.1876+11_1876+13delinsTT
n.870-118_870-116delinsAA
c.2487+11_2487+13delinsTT (n.2487+11_2487+13delinsTT)
c.2130+11_2130+13delinsTT (n.2130+11_2130+13delinsTT)
n.3188+11_3188+13delinsTT
 ClinVar dbSNP
2g.166276971delCA349076689SCN1A-AS1,SCN9Ac.2874+12del (n.2874+12del)
c.2841+12del (n.2841+12del)
c.543del (p.Met182CysfsTer?)
c.1876+12del
n.870-117del
c.2487+12del (n.2487+12del)
c.2130+12del (n.2130+12del)
n.3188+12del
 dbSNP
2g.166276971C>ACA59794418SCN1A-AS1,SCN9Ac.2874+12G>T (n.2874+12G>T)
c.2841+12G>T (n.2841+12G>T)
c.543G>T (p.Gln181His)
c.1876+12G>T
n.870-117C>A
c.2487+12G>T (n.2487+12G>T)
c.2130+12G>T (n.2130+12G>T)
n.3188+12G>T
 ClinVar dbSNP
2g.166276971C=CA1304964646SCN1A-AS1,SCN9Ac.2874+12G= (n.2874+12G=)
c.2841+12G= (n.2841+12G=)
c.543G= (p.Gln181=)
c.1876+12G=
n.870-117C=
c.2487+12G= (n.2487+12G=)
c.2130+12G= (n.2130+12G=)
n.3188+12G=
2g.166276971C>GCA1304964647SCN1A-AS1,SCN9Ac.2874+12G>C (n.2874+12G>C)
c.2841+12G>C (n.2841+12G>C)
c.543G>C (p.Gln181His)
c.1876+12G>C
n.870-117C>G
c.2487+12G>C (n.2487+12G>C)
c.2130+12G>C (n.2130+12G>C)
n.3188+12G>C
 ClinVar dbSNP gnomAD v4
2g.166276971delinsAACA2580614406SCN1A-AS1,SCN9Ac.2874+12delinsTT (n.2874+12delinsTT)
c.2841+12delinsTT (n.2841+12delinsTT)
c.543delinsTT (p.Gln181HisfsTer7)
c.1876+12delinsTT
n.870-117delinsAA
c.2487+12delinsTT (n.2487+12delinsTT)
c.2130+12delinsTT (n.2130+12delinsTT)
n.3188+12delinsTT
 ClinVar
2g.166276971_166276972delinsCTCA1304964648SCN1A-AS1,SCN9Ac.2874+11_2874+12delinsAG (n.2874+11_2874+12delinsAG)
c.2841+11_2841+12delinsAG (n.2841+11_2841+12delinsAG)
c.542_543delinsAG (p.Gln181=)
c.1876+11_1876+12delinsAG
n.870-117_870-116delinsCT
c.2487+11_2487+12delinsAG (n.2487+11_2487+12delinsAG)
c.2130+11_2130+12delinsAG (n.2130+11_2130+12delinsAG)
n.3188+11_3188+12delinsAG
2g.166276972delCA760208964SCN1A-AS1,SCN9Ac.2874+11del (n.2874+11del)
c.2841+11del (n.2841+11del)
c.542del (p.Gln181ArgfsTer?)
c.1876+11del
n.870-116del
c.2487+11del (n.2487+11del)
c.2130+11del (n.2130+11del)
n.3188+11del
 dbSNP
2g.166276972T>ACA59794424SCN1A-AS1,SCN9Ac.2874+11A>T (n.2874+11A>T)
c.2841+11A>T (n.2841+11A>T)
c.542A>T (p.Gln181Leu)
c.1876+11A>T
n.870-116T>A
c.2487+11A>T (n.2487+11A>T)
c.2130+11A>T (n.2130+11A>T)
n.3188+11A>T
 ClinVar dbSNP
2g.166276972T=CA1304964649SCN1A-AS1,SCN9Ac.2874+11A= (n.2874+11A=)
c.2841+11A= (n.2841+11A=)
c.542A= (p.Gln181=)
c.1876+11A=
n.870-116T=
c.2487+11A= (n.2487+11A=)
c.2130+11A= (n.2130+11A=)
n.3188+11A=
2g.166276972_166276973insAACA1944189SCN1A-AS1,SCN9Ac.2874+10_2874+11insTT (n.2874+10_2874+11insTT)
c.2841+10_2841+11insTT (n.2841+10_2841+11insTT)
c.541_542insTT (p.Gln181LeufsTer?)
c.1876+10_1876+11insTT
n.870-116_870-115insAA
c.2487+10_2487+11insTT (n.2487+10_2487+11insTT)
c.2130+10_2130+11insTT (n.2130+10_2130+11insTT)
n.3188+10_3188+11insTT
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166276973G>ACA760208972SCN1A-AS1,SCN9Ac.2874+10C>T (n.2874+10C>T)
c.2841+10C>T (n.2841+10C>T)
c.541C>T (p.Gln181Ter)
c.1876+10C>T
n.870-115G>A
c.2487+10C>T (n.2487+10C>T)
c.2130+10C>T (n.2130+10C>T)
n.3188+10C>T
 dbSNP gnomAD v4
2g.166276973G>CCA2577144977SCN1A-AS1,SCN9Ac.2874+10C>G (n.2874+10C>G)
c.2841+10C>G (n.2841+10C>G)
c.541C>G (p.Gln181Glu)
c.1876+10C>G
n.870-115G>C
c.2487+10C>G (n.2487+10C>G)
c.2130+10C>G (n.2130+10C>G)
n.3188+10C>G
2g.166276973G=CA1304964650SCN1A-AS1,SCN9Ac.2874+10C= (n.2874+10C=)
c.2841+10C= (n.2841+10C=)
c.541C= (p.Gln181=)
c.1876+10C=
n.870-115G=
c.2487+10C= (n.2487+10C=)
c.2130+10C= (n.2130+10C=)
n.3188+10C=
2g.166276974G>ACA2661767147SCN1A-AS1,SCN9Ac.2874+9C>T (n.2874+9C>T)
c.2841+9C>T (n.2841+9C>T)
c.540C>T (p.Asn180=)
c.1876+9C>T
n.870-114G>A
c.2487+9C>T (n.2487+9C>T)
c.2130+9C>T (n.2130+9C>T)
n.3188+9C>T
 ClinVar gnomAD v4
2g.166276978C>TCA2586970946SCN1A-AS1,SCN9Ac.2874+5G>A (n.2874+5G>A)
c.2841+5G>A (n.2841+5G>A)
c.536G>A (p.Cys179Tyr)
c.1876+5G>A
n.870-110C>T
c.2487+5G>A (n.2487+5G>A)
c.2130+5G>A (n.2130+5G>A)
n.3188+5G>A
2g.166276979A=CA1304964651SCN1A-AS1,SCN9Ac.2874+4T= (n.2874+4T=)
c.2841+4T= (n.2841+4T=)
c.535T= (p.Cys179=)
c.1876+4T=
n.870-109A=
c.2487+4T= (n.2487+4T=)
c.2130+4T= (n.2130+4T=)
n.3188+4T=
2g.166276979A>GCA1944190SCN1A-AS1,SCN9Ac.2874+4T>C (n.2874+4T>C)
c.2841+4T>C (n.2841+4T>C)
c.535T>C (p.Cys179Arg)
c.1876+4T>C
n.870-109A>G
c.2487+4T>C (n.2487+4T>C)
c.2130+4T>C (n.2130+4T>C)
n.3188+4T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166276981A>CCA349076695SCN1A-AS1,SCN9Ac.2874+2T>G (n.2874+2T>G)
c.2841+2T>G (n.2841+2T>G)
c.533T>G (p.Val178Gly)
c.1876+2T>G
n.870-107A>C
c.2487+2T>G (n.2487+2T>G)
c.2130+2T>G (n.2130+2T>G)
n.3188+2T>G
2g.166276981A>GCA349076697SCN1A-AS1,SCN9Ac.2874+2T>C (n.2874+2T>C)
c.2841+2T>C (n.2841+2T>C)
c.533T>C (p.Val178Ala)
c.1876+2T>C
n.870-107A>G
c.2487+2T>C (n.2487+2T>C)
c.2130+2T>C (n.2130+2T>C)
n.3188+2T>C
2g.166276981A>TCA349076700SCN1A-AS1,SCN9Ac.2874+2T>A (n.2874+2T>A)
c.2841+2T>A (n.2841+2T>A)
c.533T>A (p.Val178Glu)
c.1876+2T>A
n.870-107A>T
c.2487+2T>A (n.2487+2T>A)
c.2130+2T>A (n.2130+2T>A)
n.3188+2T>A
2g.166276982C>ACA349076712SCN1A-AS1,SCN9Ac.2874+1G>T (n.2874+1G>T)
c.2841+1G>T (n.2841+1G>T)
c.532G>T (p.Val178Leu)
c.1876+1G>T
n.870-106C>A
c.2487+1G>T (n.2487+1G>T)
c.2130+1G>T (n.2130+1G>T)
n.3188+1G>T
2g.166276982C=CA1304964652SCN1A-AS1,SCN9Ac.2874+1G= (n.2874+1G=)
c.2841+1G= (n.2841+1G=)
c.532G= (p.Val178=)
c.1876+1G=
n.870-106C=
c.2487+1G= (n.2487+1G=)
c.2130+1G= (n.2130+1G=)
n.3188+1G=
2g.166276982C>GCA349076719SCN1A-AS1,SCN9Ac.2874+1G>C (n.2874+1G>C)
c.2841+1G>C (n.2841+1G>C)
c.532G>C (p.Val178Leu)
c.1876+1G>C
n.870-106C>G
c.2487+1G>C (n.2487+1G>C)
c.2130+1G>C (n.2130+1G>C)
n.3188+1G>C
2g.166276982C>TCA1944191SCN1A-AS1,SCN9Ac.2874+1G>A (n.2874+1G>A)
c.2841+1G>A (n.2841+1G>A)
c.532G>A (p.Val178Ile)
c.1876+1G>A
n.870-106C>T
c.2487+1G>A (n.2487+1G>A)
c.2130+1G>A (n.2130+1G>A)
n.3188+1G>A
 dbSNP ExAC gnomAD v2
2g.166276983C>ACA429900805SCN1A-AS1,SCN9Ac.2874G>T (p.Val958=)
c.2841G>T (p.Val947=)
c.531G>T (p.Val177=)
c.1876G>T
n.870-105C>A
c.2487G>T (p.Val829=)
c.2130G>T (p.Val710=)
n.3188G>T
2g.166276983C>GCA429900808SCN1A-AS1,SCN9Ac.2874G>C (p.Val958=)
c.2841G>C (p.Val947=)
c.531G>C (p.Val177=)
c.1876G>C
n.870-105C>G
c.2487G>C (p.Val829=)
c.2130G>C (p.Val710=)
n.3188G>C
2g.166276983C>TCA429900809SCN1A-AS1,SCN9Ac.2874G>A (p.Val958=)
c.2841G>A (p.Val947=)
c.531G>A (p.Val177=)
c.1876G>A
n.870-105C>T
c.2487G>A (p.Val829=)
c.2130G>A (p.Val710=)
n.3188G>A
2g.166276984A>CCA349076727SCN1A-AS1,SCN9Ac.2873T>G (p.Val958Gly)
c.2840T>G (p.Val947Gly)
c.530T>G (p.Val177Gly)
c.1875T>G
n.870-104A>C
c.2486T>G (p.Val829Gly)
c.2129T>G (p.Val710Gly)
n.3187T>G
2g.166276984A>GCA349076732SCN1A-AS1,SCN9Ac.2873T>C (p.Val958Ala)
c.2840T>C (p.Val947Ala)
c.530T>C (p.Val177Ala)
c.1875T>C
n.870-104A>G
c.2486T>C (p.Val829Ala)
c.2129T>C (p.Val710Ala)
n.3187T>C
2g.166276984A>TCA349076728SCN1A-AS1,SCN9Ac.2873T>A (p.Val958Glu)
c.2840T>A (p.Val947Glu)
c.530T>A (p.Val177Glu)
c.1875T>A
n.870-104A>T
c.2486T>A (p.Val829Glu)
c.2129T>A (p.Val710Glu)
n.3187T>A
2g.166276985C>ACA349076734SCN1A-AS1,SCN9Ac.2872G>T (p.Val958Leu)
c.2839G>T (p.Val947Leu)
c.529G>T (p.Val177Leu)
c.1874G>T
n.870-103C>A
c.2485G>T (p.Val829Leu)
c.2128G>T (p.Val710Leu)
n.3186G>T
2g.166276985C>GCA349076737SCN1A-AS1,SCN9Ac.2872G>C (p.Val958Leu)
c.2839G>C (p.Val947Leu)
c.529G>C (p.Val177Leu)
c.1874G>C
n.870-103C>G
c.2485G>C (p.Val829Leu)
c.2128G>C (p.Val710Leu)
n.3186G>C
2g.166276985C>TCA349076738SCN1A-AS1,SCN9Ac.2872G>A (p.Val958Met)
c.2839G>A (p.Val947Met)
c.529G>A (p.Val177Met)
c.1874G>A
n.870-103C>T
c.2485G>A (p.Val829Met)
c.2128G>A (p.Val710Met)
n.3186G>A
2g.166276986C>ACA429900813SCN1A-AS1,SCN9Ac.2871G>T (p.Leu957=)
c.2838G>T (p.Leu946=)
c.528G>T (p.Leu176=)
c.1873G>T
n.870-102C>A
c.2484G>T (p.Leu828=)
c.2127G>T (p.Leu709=)
n.3185G>T
2g.166276986C>GCA429900814SCN1A-AS1,SCN9Ac.2871G>C (p.Leu957=)
c.2838G>C (p.Leu946=)
c.528G>C (p.Leu176=)
c.1873G>C
n.870-102C>G
c.2484G>C (p.Leu828=)
c.2127G>C (p.Leu709=)
n.3185G>C
 gnomAD v4
2g.166276986C>TCA429900815SCN1A-AS1,SCN9Ac.2871G>A (p.Leu957=)
c.2838G>A (p.Leu946=)
c.528G>A (p.Leu176=)
c.1873G>A
n.870-102C>T
c.2484G>A (p.Leu828=)
c.2127G>A (p.Leu709=)
n.3185G>A
2g.166276987A>CCA349076740SCN1A-AS1,SCN9Ac.2870T>G (p.Leu957Arg)
c.2837T>G (p.Leu946Arg)
c.527T>G (p.Leu176Arg)
c.1872T>G
n.870-101A>C
c.2483T>G (p.Leu828Arg)
c.2126T>G (p.Leu709Arg)
n.3184T>G
2g.166276987A>GCA349076745SCN1A-AS1,SCN9Ac.2870T>C (p.Leu957Pro)
c.2837T>C (p.Leu946Pro)
c.527T>C (p.Leu176Pro)
c.1872T>C
n.870-101A>G
c.2483T>C (p.Leu828Pro)
c.2126T>C (p.Leu709Pro)
n.3184T>C
 COSMIC COSMIC
2g.166276987A>TCA349076747SCN1A-AS1,SCN9Ac.2870T>A (p.Leu957Gln)
c.2837T>A (p.Leu946Gln)
c.527T>A (p.Leu176Gln)
c.1872T>A
n.870-101A>T
c.2483T>A (p.Leu828Gln)
c.2126T>A (p.Leu709Gln)
n.3184T>A
2g.166276988G>ACA429900818SCN1A-AS1,SCN9Ac.2869C>T (p.Leu957=)
c.2836C>T (p.Leu946=)
c.526C>T (p.Leu176=)
c.1871C>T
n.870-100G>A
c.2482C>T (p.Leu828=)
c.2125C>T (p.Leu709=)
n.3183C>T
 ClinVar
2g.166276988G>CCA349076748SCN1A-AS1,SCN9Ac.2869C>G (p.Leu957Val)
c.2836C>G (p.Leu946Val)
c.526C>G (p.Leu176Val)
c.1871C>G
n.870-100G>C
c.2482C>G (p.Leu828Val)
c.2125C>G (p.Leu709Val)
n.3183C>G
2g.166276988G>TCA349076752SCN1A-AS1,SCN9Ac.2869C>A (p.Leu957Met)
c.2836C>A (p.Leu946Met)
c.526C>A (p.Leu176Met)
c.1871C>A
n.870-100G>T
c.2482C>A (p.Leu828Met)
c.2125C>A (p.Leu709Met)
n.3183C>A
2g.166276989G>ACA429900823SCN1A-AS1,SCN9Ac.2868C>T (p.Asn956=)
c.2835C>T (p.Asn945=)
c.525C>T (p.Asn175=)
c.1870C>T
n.870-99G>A
c.2481C>T (p.Asn827=)
c.2124C>T (p.Asn708=)
n.3182C>T
 ClinVar
2g.166276989G>CCA349076757SCN1A-AS1,SCN9Ac.2868C>G (p.Asn956Lys)
c.2835C>G (p.Asn945Lys)
c.525C>G (p.Asn175Lys)
c.1870C>G
n.870-99G>C
c.2481C>G (p.Asn827Lys)
c.2124C>G (p.Asn708Lys)
n.3182C>G
2g.166276989G>TCA349076758SCN1A-AS1,SCN9Ac.2868C>A (p.Asn956Lys)
c.2835C>A (p.Asn945Lys)
c.525C>A (p.Asn175Lys)
c.1870C>A
n.870-99G>T
c.2481C>A (p.Asn827Lys)
c.2124C>A (p.Asn708Lys)
n.3182C>A
2g.166276990T>ACA349076767SCN1A-AS1,SCN9Ac.2867A>T (p.Asn956Ile)
c.2834A>T (p.Asn945Ile)
c.524A>T (p.Asn175Ile)
c.1869A>T
n.870-98T>A
c.2480A>T (p.Asn827Ile)
c.2123A>T (p.Asn708Ile)
n.3181A>T
 dbSNP
2g.166276990T>CCA349076764SCN1A-AS1,SCN9Ac.2867A>G (p.Asn956Ser)
c.2834A>G (p.Asn945Ser)
c.524A>G (p.Asn175Ser)
c.1869A>G
n.870-98T>C
c.2480A>G (p.Asn827Ser)
c.2123A>G (p.Asn708Ser)
n.3181A>G
 gnomAD v4
2g.166276990T>GCA349076762SCN1A-AS1,SCN9Ac.2867A>C (p.Asn956Thr)
c.2834A>C (p.Asn945Thr)
c.524A>C (p.Asn175Thr)
c.1869A>C
n.870-98T>G
c.2480A>C (p.Asn827Thr)
c.2123A>C (p.Asn708Thr)
n.3181A>C
2g.166276990T=CA1304964653SCN1A-AS1,SCN9Ac.2867A= (p.Asn956=)
c.2834A= (p.Asn945=)
c.524A= (p.Asn175=)
c.1869A=
n.870-98T=
c.2480A= (p.Asn827=)
c.2123A= (p.Asn708=)
n.3181A=
2g.166276991T>ACA349076772SCN1A-AS1,SCN9Ac.2866A>T (p.Asn956Tyr)
c.2833A>T (p.Asn945Tyr)
c.523A>T (p.Asn175Tyr)
c.1868A>T
n.870-97T>A
c.2479A>T (p.Asn827Tyr)
c.2122A>T (p.Asn708Tyr)
n.3180A>T
2g.166276991T>CCA349076774SCN1A-AS1,SCN9Ac.2866A>G (p.Asn956Asp)
c.2833A>G (p.Asn945Asp)
c.523A>G (p.Asn175Asp)
c.1868A>G
n.870-97T>C
c.2479A>G (p.Asn827Asp)
c.2122A>G (p.Asn708Asp)
n.3180A>G
2g.166276991T>GCA349076776SCN1A-AS1,SCN9Ac.2866A>C (p.Asn956His)
c.2833A>C (p.Asn945His)
c.523A>C (p.Asn175His)
c.1868A>C
n.870-97T>G
c.2479A>C (p.Asn827His)
c.2122A>C (p.Asn708His)
n.3180A>C
2g.166276992T>ACA429900835SCN1A-AS1,SCN9Ac.2865A>T (p.Gly955=)
c.2832A>T (p.Gly944=)
c.522A>T (p.Gly174=)
c.1867A>T
n.870-96T>A
c.2478A>T (p.Gly826=)
c.2121A>T (p.Gly707=)
n.3179A>T
2g.166276992T>CCA429900837SCN1A-AS1,SCN9Ac.2865A>G (p.Gly955=)
c.2832A>G (p.Gly944=)
c.522A>G (p.Gly174=)
c.1867A>G
n.870-96T>C
c.2478A>G (p.Gly826=)
c.2121A>G (p.Gly707=)
n.3179A>G
2g.166276992T>GCA429900834SCN1A-AS1,SCN9Ac.2865A>C (p.Gly955=)
c.2832A>C (p.Gly944=)
c.522A>C (p.Gly174=)
c.1867A>C
n.870-96T>G
c.2478A>C (p.Gly826=)
c.2121A>C (p.Gly707=)
n.3179A>C
 dbSNP gnomAD v2 gnomAD v4
2g.166276992T=CA1304964654SCN1A-AS1,SCN9Ac.2865A= (p.Gly955=)
c.2832A= (p.Gly944=)
c.522A= (p.Gly174=)
c.1867A=
n.870-96T=
c.2478A= (p.Gly826=)
c.2121A= (p.Gly707=)
n.3179A=
2g.166276993C>ACA349076781SCN1A-AS1,SCN9Ac.2864G>T (p.Gly955Val)
c.2831G>T (p.Gly944Val)
c.521G>T (p.Gly174Val)
c.1866G>T
n.870-95C>A
c.2477G>T (p.Gly826Val)
c.2120G>T (p.Gly707Val)
n.3178G>T
2g.166276993C>GCA349076785SCN1A-AS1,SCN9Ac.2864G>C (p.Gly955Ala)
c.2831G>C (p.Gly944Ala)
c.521G>C (p.Gly174Ala)
c.1866G>C
n.870-95C>G
c.2477G>C (p.Gly826Ala)
c.2120G>C (p.Gly707Ala)
n.3178G>C
2g.166276993C>TCA349076788SCN1A-AS1,SCN9Ac.2864G>A (p.Gly955Glu)
c.2831G>A (p.Gly944Glu)
c.521G>A (p.Gly174Glu)
c.1866G>A
n.870-95C>T
c.2477G>A (p.Gly826Glu)
c.2120G>A (p.Gly707Glu)
n.3178G>A
 gnomAD v4
2g.166276994C>ACA349076795SCN1A-AS1,SCN9Ac.2863G>T (p.Gly955Ter)
c.2830G>T (p.Gly944Ter)
c.520G>T (p.Gly174Ter)
c.1865G>T
n.870-94C>A
c.2476G>T (p.Gly826Ter)
c.2119G>T (p.Gly707Ter)
n.3177G>T
 dbSNP
2g.166276994C=CA1304964655SCN1A-AS1,SCN9Ac.2863G= (p.Gly955=)
c.2830G= (p.Gly944=)
c.520G= (p.Gly174=)
c.1865G=
n.870-94C=
c.2476G= (p.Gly826=)
c.2119G= (p.Gly707=)
n.3177G=
2g.166276994C>GCA349076798SCN1A-AS1,SCN9Ac.2863G>C (p.Gly955Arg)
c.2830G>C (p.Gly944Arg)
c.520G>C (p.Gly174Arg)
c.1865G>C
n.870-94C>G
c.2476G>C (p.Gly826Arg)
c.2119G>C (p.Gly707Arg)
n.3177G>C
2g.166276994C>TCA349076802SCN1A-AS1,SCN9Ac.2863G>A (p.Gly955Arg)
c.2830G>A (p.Gly944Arg)
c.520G>A (p.Gly174Arg)
c.1865G>A
n.870-94C>T
c.2476G>A (p.Gly826Arg)
c.2119G>A (p.Gly707Arg)
n.3177G>A
2g.166276995_166277000dupCA2661767148SCN1A-AS1,SCN9Ac.2858_2863dup (p.Ile954_Gly955insValIle)
c.2825_2830dup (p.Ile943_Gly944insValIle)
c.515_520dup (p.Ile173_Gly174insValIle)
c.1860_1865dup
n.870-93_870-88dup
c.2471_2476dup (p.Ile825_Gly826insValIle)
c.2114_2119dup (p.Ile706_Gly707insValIle)
n.3172_3177dup
 gnomAD v4
2g.166276995A>CCA349076805SCN1A-AS1,SCN9Ac.2862T>G (p.Ile954Met)
c.2829T>G (p.Ile943Met)
c.519T>G (p.Ile173Met)
c.1864T>G
n.870-93A>C
c.2475T>G (p.Ile825Met)
c.2118T>G (p.Ile706Met)
n.3176T>G
2g.166276995A>GCA429977908SCN1A-AS1,SCN9Ac.2862T>C (p.Ile954=)
c.2829T>C (p.Ile943=)
c.519T>C (p.Ile173=)
c.1864T>C
n.870-93A>G
c.2475T>C (p.Ile825=)
c.2118T>C (p.Ile706=)
n.3176T>C
2g.166276995A>TCA429977906SCN1A-AS1,SCN9Ac.2862T>A (p.Ile954=)
c.2829T>A (p.Ile943=)
c.519T>A (p.Ile173=)
c.1864T>A
n.870-93A>T
c.2475T>A (p.Ile825=)
c.2118T>A (p.Ile706=)
n.3176T>A
2g.166276996A=CA1304964656SCN1A-AS1,SCN9Ac.2861T= (p.Ile954=)
c.2828T= (p.Ile943=)
c.518T= (p.Ile173=)
c.1863T=
n.870-92A=
c.2474T= (p.Ile825=)
c.2117T= (p.Ile706=)
n.3175T=
2g.166276996A>CCA349076811SCN1A-AS1,SCN9Ac.2861T>G (p.Ile954Ser)
c.2828T>G (p.Ile943Ser)
c.518T>G (p.Ile173Ser)
c.1863T>G
n.870-92A>C
c.2474T>G (p.Ile825Ser)
c.2117T>G (p.Ile706Ser)
n.3175T>G
2g.166276996A>GCA59794454SCN1A-AS1,SCN9Ac.2861T>C (p.Ile954Thr)
c.2828T>C (p.Ile943Thr)
c.518T>C (p.Ile173Thr)
c.1863T>C
n.870-92A>G
c.2474T>C (p.Ile825Thr)
c.2117T>C (p.Ile706Thr)
n.3175T>C
 dbSNP gnomAD v3 gnomAD v4
2g.166276996A>TCA349076814SCN1A-AS1,SCN9Ac.2861T>A (p.Ile954Asn)
c.2828T>A (p.Ile943Asn)
c.518T>A (p.Ile173Asn)
c.1863T>A
n.870-92A>T
c.2474T>A (p.Ile825Asn)
c.2117T>A (p.Ile706Asn)
n.3175T>A
2g.166276997T>ACA349076822SCN1A-AS1,SCN9Ac.2860A>T (p.Ile954Phe)
c.2827A>T (p.Ile943Phe)
c.517A>T (p.Ile173Phe)
c.1862A>T
n.870-91T>A
c.2473A>T (p.Ile825Phe)
c.2116A>T (p.Ile706Phe)
n.3174A>T
2g.166276997T>CCA349076816SCN1A-AS1,SCN9Ac.2860A>G (p.Ile954Val)
c.2827A>G (p.Ile943Val)
c.517A>G (p.Ile173Val)
c.1862A>G
n.870-91T>C
c.2473A>G (p.Ile825Val)
c.2116A>G (p.Ile706Val)
n.3174A>G
2g.166276997T>GCA349076819SCN1A-AS1,SCN9Ac.2860A>C (p.Ile954Leu)
c.2827A>C (p.Ile943Leu)
c.517A>C (p.Ile173Leu)
c.1862A>C
n.870-91T>G
c.2473A>C (p.Ile825Leu)
c.2116A>C (p.Ile706Leu)
n.3174A>C
2g.166276998G>ACA429977912SCN1A-AS1,SCN9Ac.2859C>T (p.Val953=)
c.2826C>T (p.Val942=)
c.516C>T (p.Val172=)
c.1861C>T
n.870-90G>A
c.2472C>T (p.Val824=)
c.2115C>T (p.Val705=)
n.3173C>T
 ClinVar dbSNP gnomAD v4
2g.166276998G>CCA429977919SCN1A-AS1,SCN9Ac.2859C>G (p.Val953=)
c.2826C>G (p.Val942=)
c.516C>G (p.Val172=)
c.1861C>G
n.870-90G>C
c.2472C>G (p.Val824=)
c.2115C>G (p.Val705=)
n.3173C>G
2g.166276998G>TCA429977915SCN1A-AS1,SCN9Ac.2859C>A (p.Val953=)
c.2826C>A (p.Val942=)
c.516C>A (p.Val172=)
c.1861C>A
n.870-90G>T
c.2472C>A (p.Val824=)
c.2115C>A (p.Val705=)
n.3173C>A
2g.166276999A=CA1304964657SCN1A-AS1,SCN9Ac.2858T= (p.Val953=)
c.2825T= (p.Val942=)
c.515T= (p.Val172=)
c.1860T=
n.870-89A=
c.2471T= (p.Val824=)
c.2114T= (p.Val705=)
n.3172T=
2g.166276999A>CCA349076826SCN1A-AS1,SCN9Ac.2858T>G (p.Val953Gly)
c.2825T>G (p.Val942Gly)
c.515T>G (p.Val172Gly)
c.1860T>G
n.870-89A>C
c.2471T>G (p.Val824Gly)
c.2114T>G (p.Val705Gly)
n.3172T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166276999A>GCA349076830SCN1A-AS1,SCN9Ac.2858T>C (p.Val953Ala)
c.2825T>C (p.Val942Ala)
c.515T>C (p.Val172Ala)
c.1860T>C
n.870-89A>G
c.2471T>C (p.Val824Ala)
c.2114T>C (p.Val705Ala)
n.3172T>C
2g.166276999A>TCA349076833SCN1A-AS1,SCN9Ac.2858T>A (p.Val953Asp)
c.2825T>A (p.Val942Asp)
c.515T>A (p.Val172Asp)
c.1860T>A
n.870-89A>T
c.2471T>A (p.Val824Asp)
c.2114T>A (p.Val705Asp)
n.3172T>A
2g.166277000C>ACA1944192SCN1A-AS1,SCN9Ac.2857G>T (p.Val953Phe)
c.2824G>T (p.Val942Phe)
c.514G>T (p.Val172Phe)
c.1859G>T
n.870-88C>A
c.2470G>T (p.Val824Phe)
c.2113G>T (p.Val705Phe)
n.3171G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277000C=CA1304964658SCN1A-AS1,SCN9Ac.2857G= (p.Val953=)
c.2824G= (p.Val942=)
c.514G= (p.Val172=)
c.1859G=
n.870-88C=
c.2470G= (p.Val824=)
c.2113G= (p.Val705=)
n.3171G=
2g.166277000C>GCA349076837SCN1A-AS1,SCN9Ac.2857G>C (p.Val953Leu)
c.2824G>C (p.Val942Leu)
c.514G>C (p.Val172Leu)
c.1859G>C
n.870-88C>G
c.2470G>C (p.Val824Leu)
c.2113G>C (p.Val705Leu)
n.3171G>C
2g.166277000C>TCA349076841SCN1A-AS1,SCN9Ac.2857G>A (p.Val953Ile)
c.2824G>A (p.Val942Ile)
c.514G>A (p.Val172Ile)
c.1859G>A
n.870-88C>T
c.2470G>A (p.Val824Ile)
c.2113G>A (p.Val705Ile)
n.3171G>A
2g.166277001C>ACA349076845SCN1A-AS1,SCN9Ac.2856G>T (p.Met952Ile)
c.2823G>T (p.Met941Ile)
c.513G>T (p.Met171Ile)
c.1858G>T
n.870-87C>A
c.2469G>T (p.Met823Ile)
c.2112G>T (p.Met704Ile)
n.3170G>T
2g.166277001C>GCA349076849SCN1A-AS1,SCN9Ac.2856G>C (p.Met952Ile)
c.2823G>C (p.Met941Ile)
c.513G>C (p.Met171Ile)
c.1858G>C
n.870-87C>G
c.2469G>C (p.Met823Ile)
c.2112G>C (p.Met704Ile)
n.3170G>C
2g.166277001C>TCA349076853SCN1A-AS1,SCN9Ac.2856G>A (p.Met952Ile)
c.2823G>A (p.Met941Ile)
c.513G>A (p.Met171Ile)
c.1858G>A
n.870-87C>T
c.2469G>A (p.Met823Ile)
c.2112G>A (p.Met704Ile)
n.3170G>A
2g.166277002A=CA1304964659SCN1A-AS1,SCN9Ac.2855T= (p.Met952=)
c.2822T= (p.Met941=)
c.512T= (p.Met171=)
c.1857T=
n.870-86A=
c.2468T= (p.Met823=)
c.2111T= (p.Met704=)
n.3169T=
2g.166277002A>CCA349076858SCN1A-AS1,SCN9Ac.2855T>G (p.Met952Arg)
c.2822T>G (p.Met941Arg)
c.512T>G (p.Met171Arg)
c.1857T>G
n.870-86A>C
c.2468T>G (p.Met823Arg)
c.2111T>G (p.Met704Arg)
n.3169T>G
2g.166277002A>GCA1944193SCN1A-AS1,SCN9Ac.2855T>C (p.Met952Thr)
c.2822T>C (p.Met941Thr)
c.512T>C (p.Met171Thr)
c.1857T>C
n.870-86A>G
c.2468T>C (p.Met823Thr)
c.2111T>C (p.Met704Thr)
n.3169T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277002A>TCA349076865SCN1A-AS1,SCN9Ac.2855T>A (p.Met952Lys)
c.2822T>A (p.Met941Lys)
c.512T>A (p.Met171Lys)
c.1857T>A
n.870-86A>T
c.2468T>A (p.Met823Lys)
c.2111T>A (p.Met704Lys)
n.3169T>A
2g.166277003T>ACA349076880SCN1A-AS1,SCN9Ac.2854A>T (p.Met952Leu)
c.2821A>T (p.Met941Leu)
c.511A>T (p.Met171Leu)
c.1856A>T
n.870-85T>A
c.2467A>T (p.Met823Leu)
c.2110A>T (p.Met704Leu)
n.3168A>T
2g.166277003T>CCA349076874SCN1A-AS1,SCN9Ac.2854A>G (p.Met952Val)
c.2821A>G (p.Met941Val)
c.511A>G (p.Met171Val)
c.1856A>G
n.870-85T>C
c.2467A>G (p.Met823Val)
c.2110A>G (p.Met704Val)
n.3168A>G
2g.166277003T>GCA349076871SCN1A-AS1,SCN9Ac.2854A>C (p.Met952Leu)
c.2821A>C (p.Met941Leu)
c.511A>C (p.Met171Leu)
c.1856A>C
n.870-85T>G
c.2467A>C (p.Met823Leu)
c.2110A>C (p.Met704Leu)
n.3168A>C
 ClinVar dbSNP
2g.166277004G>ACA59794461SCN1A-AS1,SCN9Ac.2853C>T (p.Val951=)
c.2820C>T (p.Val940=)
c.510C>T (p.Val170=)
c.1855C>T
n.870-84G>A
c.2466C>T (p.Val822=)
c.2109C>T (p.Val703=)
n.3167C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277004G>CCA1944194SCN1A-AS1,SCN9Ac.2853C>G (p.Val951=)
c.2820C>G (p.Val940=)
c.510C>G (p.Val170=)
c.1855C>G
n.870-84G>C
c.2466C>G (p.Val822=)
c.2109C>G (p.Val703=)
n.3167C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277004G=CA1304964660SCN1A-AS1,SCN9Ac.2853C= (p.Val951=)
c.2820C= (p.Val940=)
c.510C= (p.Val170=)
c.1855C=
n.870-84G=
c.2466C= (p.Val822=)
c.2109C= (p.Val703=)
n.3167C=
2g.166277004G>TCA429977929SCN1A-AS1,SCN9Ac.2853C>A (p.Val951=)
c.2820C>A (p.Val940=)
c.510C>A (p.Val170=)
c.1855C>A
n.870-84G>T
c.2466C>A (p.Val822=)
c.2109C>A (p.Val703=)
n.3167C>A
2g.166277005A=CA1304964661SCN1A-AS1,SCN9Ac.2852T= (p.Val951=)
c.2819T= (p.Val940=)
c.509T= (p.Val170=)
c.1854T=
n.870-83A=
c.2465T= (p.Val822=)
c.2108T= (p.Val703=)
n.3166T=
2g.166277005A>CCA349076891SCN1A-AS1,SCN9Ac.2852T>G (p.Val951Gly)
c.2819T>G (p.Val940Gly)
c.509T>G (p.Val170Gly)
c.1854T>G
n.870-83A>C
c.2465T>G (p.Val822Gly)
c.2108T>G (p.Val703Gly)
n.3166T>G
2g.166277005A>GCA1944195SCN1A-AS1,SCN9Ac.2852T>C (p.Val951Ala)
c.2819T>C (p.Val940Ala)
c.509T>C (p.Val170Ala)
c.1854T>C
n.870-83A>G
c.2465T>C (p.Val822Ala)
c.2108T>C (p.Val703Ala)
n.3166T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277005A>TCA349076898SCN1A-AS1,SCN9Ac.2852T>A (p.Val951Asp)
c.2819T>A (p.Val940Asp)
c.509T>A (p.Val170Asp)
c.1854T>A
n.870-83A>T
c.2465T>A (p.Val822Asp)
c.2108T>A (p.Val703Asp)
n.3166T>A
2g.166277006C>ACA349076902SCN1A-AS1,SCN9Ac.2851G>T (p.Val951Phe)
c.2818G>T (p.Val940Phe)
c.508G>T (p.Val170Phe)
c.1853G>T
n.870-82C>A
c.2464G>T (p.Val822Phe)
c.2107G>T (p.Val703Phe)
n.3165G>T
2g.166277006C>GCA349076904SCN1A-AS1,SCN9Ac.2851G>C (p.Val951Leu)
c.2818G>C (p.Val940Leu)
c.508G>C (p.Val170Leu)
c.1853G>C
n.870-82C>G
c.2464G>C (p.Val822Leu)
c.2107G>C (p.Val703Leu)
n.3165G>C
2g.166277006C>TCA349076906SCN1A-AS1,SCN9Ac.2851G>A (p.Val951Ile)
c.2818G>A (p.Val940Ile)
c.508G>A (p.Val170Ile)
c.1853G>A
n.870-82C>T
c.2464G>A (p.Val822Ile)
c.2107G>A (p.Val703Ile)
n.3165G>A
2g.166277007C>ACA349076907SCN1A-AS1,SCN9Ac.2850G>T (p.Met950Ile)
c.2817G>T (p.Met939Ile)
c.507G>T (p.Met169Ile)
c.1852G>T
n.870-81C>A
c.2463G>T (p.Met821Ile)
c.2106G>T (p.Met702Ile)
n.3164G>T
 COSMIC COSMIC
2g.166277007C=CA1304964662SCN1A-AS1,SCN9Ac.2850G= (p.Met950=)
c.2817G= (p.Met939=)
c.507G= (p.Met169=)
c.1852G=
n.870-81C=
c.2463G= (p.Met821=)
c.2106G= (p.Met702=)
n.3164G=
2g.166277007C>GCA349076908SCN1A-AS1,SCN9Ac.2850G>C (p.Met950Ile)
c.2817G>C (p.Met939Ile)
c.507G>C (p.Met169Ile)
c.1852G>C
n.870-81C>G
c.2463G>C (p.Met821Ile)
c.2106G>C (p.Met702Ile)
n.3164G>C
 dbSNP gnomAD v4
2g.166277007C>TCA349076909SCN1A-AS1,SCN9Ac.2850G>A (p.Met950Ile)
c.2817G>A (p.Met939Ile)
c.507G>A (p.Met169Ile)
c.1852G>A
n.870-81C>T
c.2463G>A (p.Met821Ile)
c.2106G>A (p.Met702Ile)
n.3164G>A
2g.166277010_166277012delCA2580614407SCN1A-AS1,SCN9Ac.2848_2850del (p.Met950del)
c.2815_2817del (p.Met939del)
c.505_507del (p.Met169del)
c.1850_1852del
n.870-78_870-76del
c.2461_2463del (p.Met821del)
c.2104_2106del (p.Met702del)
n.3162_3164del
 ClinVar
2g.166277008A=CA1304964663SCN1A-AS1,SCN9Ac.2849T= (p.Met950=)
c.2816T= (p.Met939=)
c.506T= (p.Met169=)
c.1851T=
n.870-80A=
c.2462T= (p.Met821=)
c.2105T= (p.Met702=)
n.3163T=
2g.166277008A>CCA349076912SCN1A-AS1,SCN9Ac.2849T>G (p.Met950Arg)
c.2816T>G (p.Met939Arg)
c.506T>G (p.Met169Arg)
c.1851T>G
n.870-80A>C
c.2462T>G (p.Met821Arg)
c.2105T>G (p.Met702Arg)
n.3163T>G
2g.166277008A>GCA349076914SCN1A-AS1,SCN9Ac.2849T>C (p.Met950Thr)
c.2816T>C (p.Met939Thr)
c.506T>C (p.Met169Thr)
c.1851T>C
n.870-80A>G
c.2462T>C (p.Met821Thr)
c.2105T>C (p.Met702Thr)
n.3163T>C
 ClinVar dbSNP gnomAD v4
2g.166277008A>TCA349076916SCN1A-AS1,SCN9Ac.2849T>A (p.Met950Lys)
c.2816T>A (p.Met939Lys)
c.506T>A (p.Met169Lys)
c.1851T>A
n.870-80A>T
c.2462T>A (p.Met821Lys)
c.2105T>A (p.Met702Lys)
n.3163T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277009T>ACA349076919SCN1A-AS1,SCN9Ac.2848A>T (p.Met950Leu)
c.2815A>T (p.Met939Leu)
c.505A>T (p.Met169Leu)
c.1850A>T
n.870-79T>A
c.2461A>T (p.Met821Leu)
c.2104A>T (p.Met702Leu)
n.3162A>T
2g.166277009T>CCA349076921SCN1A-AS1,SCN9Ac.2848A>G (p.Met950Val)
c.2815A>G (p.Met939Val)
c.505A>G (p.Met169Val)
c.1850A>G
n.870-79T>C
c.2461A>G (p.Met821Val)
c.2104A>G (p.Met702Val)
n.3162A>G
2g.166277009T>GCA349076923SCN1A-AS1,SCN9Ac.2848A>C (p.Met950Leu)
c.2815A>C (p.Met939Leu)
c.505A>C (p.Met169Leu)
c.1850A>C
n.870-79T>G
c.2461A>C (p.Met821Leu)
c.2104A>C (p.Met702Leu)
n.3162A>C
2g.166277010C>ACA349076930SCN1A-AS1,SCN9Ac.2847G>T (p.Met949Ile)
c.2814G>T (p.Met938Ile)
c.504G>T (p.Met168Ile)
c.1849G>T
n.870-78C>A
c.2460G>T (p.Met820Ile)
c.2103G>T (p.Met701Ile)
n.3161G>T
2g.166277010C=CA1304964664SCN1A-AS1,SCN9Ac.2847G= (p.Met949=)
c.2814G= (p.Met938=)
c.504G= (p.Met168=)
c.1849G=
n.870-78C=
c.2460G= (p.Met820=)
c.2103G= (p.Met701=)
n.3161G=
2g.166277010C>GCA349076926SCN1A-AS1,SCN9Ac.2847G>C (p.Met949Ile)
c.2814G>C (p.Met938Ile)
c.504G>C (p.Met168Ile)
c.1849G>C
n.870-78C>G
c.2460G>C (p.Met820Ile)
c.2103G>C (p.Met701Ile)
n.3161G>C
2g.166277010C>TCA1944196SCN1A-AS1,SCN9Ac.2847G>A (p.Met949Ile)
c.2814G>A (p.Met938Ile)
c.504G>A (p.Met168Ile)
c.1849G>A
n.870-78C>T
c.2460G>A (p.Met820Ile)
c.2103G>A (p.Met701Ile)
n.3161G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166277011A>CCA349076934SCN1A-AS1,SCN9Ac.2846T>G (p.Met949Arg)
c.2813T>G (p.Met938Arg)
c.503T>G (p.Met168Arg)
c.1848T>G
n.870-77A>C
c.2459T>G (p.Met820Arg)
c.2102T>G (p.Met701Arg)
n.3160T>G
2g.166277011A>GCA349076940SCN1A-AS1,SCN9Ac.2846T>C (p.Met949Thr)
c.2813T>C (p.Met938Thr)
c.503T>C (p.Met168Thr)
c.1848T>C
n.870-77A>G
c.2459T>C (p.Met820Thr)
c.2102T>C (p.Met701Thr)
n.3160T>C
2g.166277011A>TCA349076942SCN1A-AS1,SCN9Ac.2846T>A (p.Met949Lys)
c.2813T>A (p.Met938Lys)
c.503T>A (p.Met168Lys)
c.1848T>A
n.870-77A>T
c.2459T>A (p.Met820Lys)
c.2102T>A (p.Met701Lys)
n.3160T>A
2g.166277012T>ACA349076947SCN1A-AS1,SCN9Ac.2845A>T (p.Met949Leu)
c.2812A>T (p.Met938Leu)
c.502A>T (p.Met168Leu)
c.1847A>T
n.870-76T>A
c.2458A>T (p.Met820Leu)
c.2101A>T (p.Met701Leu)
n.3159A>T
2g.166277012T>CCA349076950SCN1A-AS1,SCN9Ac.2845A>G (p.Met949Val)
c.2812A>G (p.Met938Val)
c.502A>G (p.Met168Val)
c.1847A>G
n.870-76T>C
c.2458A>G (p.Met820Val)
c.2101A>G (p.Met701Val)
n.3159A>G
 gnomAD v4
2g.166277012T>GCA349076953SCN1A-AS1,SCN9Ac.2845A>C (p.Met949Leu)
c.2812A>C (p.Met938Leu)
c.502A>C (p.Met168Leu)
c.1847A>C
n.870-76T>G
c.2458A>C (p.Met820Leu)
c.2101A>C (p.Met701Leu)
n.3159A>C
2g.166277013G>ACA429977943SCN1A-AS1,SCN9Ac.2844C>T (p.Tyr948=)
c.2811C>T (p.Tyr937=)
c.501C>T (p.Tyr167=)
c.1846C>T
n.870-75G>A
c.2457C>T (p.Tyr819=)
c.2100C>T (p.Tyr700=)
n.3158C>T
2g.166277013G>CCA349076956SCN1A-AS1,SCN9Ac.2844C>G (p.Tyr948Ter)
c.2811C>G (p.Tyr937Ter)
c.501C>G (p.Tyr167Ter)
c.1846C>G
n.870-75G>C
c.2457C>G (p.Tyr819Ter)
c.2100C>G (p.Tyr700Ter)
n.3158C>G
2g.166277013G>TCA349076959SCN1A-AS1,SCN9Ac.2844C>A (p.Tyr948Ter)
c.2811C>A (p.Tyr937Ter)
c.501C>A (p.Tyr167Ter)
c.1846C>A
n.870-75G>T
c.2457C>A (p.Tyr819Ter)
c.2100C>A (p.Tyr700Ter)
n.3158C>A
2g.166277014T>ACA349076965SCN1A-AS1,SCN9Ac.2843A>T (p.Tyr948Phe)
c.2810A>T (p.Tyr937Phe)
c.500A>T (p.Tyr167Phe)
c.1845A>T
n.870-74T>A
c.2456A>T (p.Tyr819Phe)
c.2099A>T (p.Tyr700Phe)
n.3157A>T
 gnomAD v4
2g.166277014T>CCA349076967SCN1A-AS1,SCN9Ac.2843A>G (p.Tyr948Cys)
c.2810A>G (p.Tyr937Cys)
c.500A>G (p.Tyr167Cys)
c.1845A>G
n.870-74T>C
c.2456A>G (p.Tyr819Cys)
c.2099A>G (p.Tyr700Cys)
n.3157A>G
2g.166277014T>GCA349076973SCN1A-AS1,SCN9Ac.2843A>C (p.Tyr948Ser)
c.2810A>C (p.Tyr937Ser)
c.500A>C (p.Tyr167Ser)
c.1845A>C
n.870-74T>G
c.2456A>C (p.Tyr819Ser)
c.2099A>C (p.Tyr700Ser)
n.3157A>C
2g.166277015A>CCA349076983SCN1A-AS1,SCN9Ac.2842T>G (p.Tyr948Asp)
c.2809T>G (p.Tyr937Asp)
c.499T>G (p.Tyr167Asp)
c.1844T>G
n.870-73A>C
c.2455T>G (p.Tyr819Asp)
c.2098T>G (p.Tyr700Asp)
n.3156T>G
2g.166277015A>GCA349076980SCN1A-AS1,SCN9Ac.2842T>C (p.Tyr948His)
c.2809T>C (p.Tyr937His)
c.499T>C (p.Tyr167His)
c.1844T>C
n.870-73A>G
c.2455T>C (p.Tyr819His)
c.2098T>C (p.Tyr700His)
n.3156T>C
2g.166277015A>TCA349076978SCN1A-AS1,SCN9Ac.2842T>A (p.Tyr948Asn)
c.2809T>A (p.Tyr937Asn)
c.499T>A (p.Tyr167Asn)
c.1844T>A
n.870-73A>T
c.2455T>A (p.Tyr819Asn)
c.2098T>A (p.Tyr700Asn)
n.3156T>A
2g.166277016A>CCA429977950SCN1A-AS1,SCN9Ac.2841T>G (p.Val947=)
c.2808T>G (p.Val936=)
c.498T>G (p.Val166=)
c.1843T>G
n.870-72A>C
c.2454T>G (p.Val818=)
c.2097T>G (p.Val699=)
n.3155T>G
2g.166277016A>GCA429977951SCN1A-AS1,SCN9Ac.2841T>C (p.Val947=)
c.2808T>C (p.Val936=)
c.498T>C (p.Val166=)
c.1843T>C
n.870-72A>G
c.2454T>C (p.Val818=)
c.2097T>C (p.Val699=)
n.3155T>C
2g.166277016A>TCA429977952SCN1A-AS1,SCN9Ac.2841T>A (p.Val947=)
c.2808T>A (p.Val936=)
c.498T>A (p.Val166=)
c.1843T>A
n.870-72A>T
c.2454T>A (p.Val818=)
c.2097T>A (p.Val699=)
n.3155T>A
2g.166277017A=CA1304964665SCN1A-AS1,SCN9Ac.2840T= (p.Val947=)
c.2807T= (p.Val936=)
c.497T= (p.Val166=)
c.1842T=
n.870-71A=
c.2453T= (p.Val818=)
c.2096T= (p.Val699=)
n.3154T=
2g.166277017A>CCA349076985SCN1A-AS1,SCN9Ac.2840T>G (p.Val947Gly)
c.2807T>G (p.Val936Gly)
c.497T>G (p.Val166Gly)
c.1842T>G
n.870-71A>C
c.2453T>G (p.Val818Gly)
c.2096T>G (p.Val699Gly)
n.3154T>G
2g.166277017A>GCA349076986SCN1A-AS1,SCN9Ac.2840T>C (p.Val947Ala)
c.2807T>C (p.Val936Ala)
c.497T>C (p.Val166Ala)
c.1842T>C
n.870-71A>G
c.2453T>C (p.Val818Ala)
c.2096T>C (p.Val699Ala)
n.3154T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166277017A>TCA349076992SCN1A-AS1,SCN9Ac.2840T>A (p.Val947Asp)
c.2807T>A (p.Val936Asp)
c.497T>A (p.Val166Asp)
c.1842T>A
n.870-71A>T
c.2453T>A (p.Val818Asp)
c.2096T>A (p.Val699Asp)
n.3154T>A
2g.166277018C>ACA349076994SCN1A-AS1,SCN9Ac.2839G>T (p.Val947Phe)
c.2806G>T (p.Val936Phe)
c.496G>T (p.Val166Phe)
c.1841G>T
n.870-70C>A
c.2452G>T (p.Val818Phe)
c.2095G>T (p.Val699Phe)
n.3153G>T
2g.166277018C>GCA349076996SCN1A-AS1,SCN9Ac.2839G>C (p.Val947Leu)
c.2806G>C (p.Val936Leu)
c.496G>C (p.Val166Leu)
c.1841G>C
n.870-70C>G
c.2452G>C (p.Val818Leu)
c.2095G>C (p.Val699Leu)
n.3153G>C
2g.166277018C>TCA349076999SCN1A-AS1,SCN9Ac.2839G>A (p.Val947Ile)
c.2806G>A (p.Val936Ile)
c.496G>A (p.Val166Ile)
c.1841G>A
n.870-70C>T
c.2452G>A (p.Val818Ile)
c.2095G>A (p.Val699Ile)
n.3153G>A
2g.166277019A>CCA349077003SCN1A-AS1,SCN9Ac.2838T>G (p.Ile946Met)
c.2805T>G (p.Ile935Met)
c.495T>G (p.Ile165Met)
c.1840T>G
n.870-69A>C
c.2451T>G (p.Ile817Met)
c.2094T>G (p.Ile698Met)
n.3152T>G
2g.166277019A>GCA429977957SCN1A-AS1,SCN9Ac.2838T>C (p.Ile946=)
c.2805T>C (p.Ile935=)
c.495T>C (p.Ile165=)
c.1840T>C
n.870-69A>G
c.2451T>C (p.Ile817=)
c.2094T>C (p.Ile698=)
n.3152T>C
2g.166277019A>TCA429977958SCN1A-AS1,SCN9Ac.2838T>A (p.Ile946=)
c.2805T>A (p.Ile935=)
c.495T>A (p.Ile165=)
c.1840T>A
n.870-69A>T
c.2451T>A (p.Ile817=)
c.2094T>A (p.Ile698=)
n.3152T>A
2g.166277020A=CA1304964666SCN1A-AS1,SCN9Ac.2837T= (p.Ile946=)
c.2804T= (p.Ile935=)
c.494T= (p.Ile165=)
c.1839T=
n.870-68A=
c.2450T= (p.Ile817=)
c.2093T= (p.Ile698=)
n.3151T=
2g.166277020A>CCA349077008SCN1A-AS1,SCN9Ac.2837T>G (p.Ile946Ser)
c.2804T>G (p.Ile935Ser)
c.494T>G (p.Ile165Ser)
c.1839T>G
n.870-68A>C
c.2450T>G (p.Ile817Ser)
c.2093T>G (p.Ile698Ser)
n.3151T>G
2g.166277020A>GCA349077011SCN1A-AS1,SCN9Ac.2837T>C (p.Ile946Thr)
c.2804T>C (p.Ile935Thr)
c.494T>C (p.Ile165Thr)
c.1839T>C
n.870-68A>G
c.2450T>C (p.Ile817Thr)
c.2093T>C (p.Ile698Thr)
n.3151T>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166277020A>TCA349077013SCN1A-AS1,SCN9Ac.2837T>A (p.Ile946Asn)
c.2804T>A (p.Ile935Asn)
c.494T>A (p.Ile165Asn)
c.1839T>A
n.870-68A>T
c.2450T>A (p.Ile817Asn)
c.2093T>A (p.Ile698Asn)
n.3151T>A
2g.166277021T>ACA349077014SCN1A-AS1,SCN9Ac.2836A>T (p.Ile946Phe)
c.2803A>T (p.Ile935Phe)
c.493A>T (p.Ile165Phe)
c.1838A>T
n.870-67T>A
c.2449A>T (p.Ile817Phe)
c.2092A>T (p.Ile698Phe)
n.3150A>T
2g.166277021T>CCA1944197SCN1A-AS1,SCN9Ac.2836A>G (p.Ile946Val)
c.2803A>G (p.Ile935Val)
c.493A>G (p.Ile165Val)
c.1838A>G
n.870-67T>C
c.2449A>G (p.Ile817Val)
c.2092A>G (p.Ile698Val)
n.3150A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277021T>GCA349077016SCN1A-AS1,SCN9Ac.2836A>C (p.Ile946Leu)
c.2803A>C (p.Ile935Leu)
c.493A>C (p.Ile165Leu)
c.1838A>C
n.870-67T>G
c.2449A>C (p.Ile817Leu)
c.2092A>C (p.Ile698Leu)
n.3150A>C
2g.166277021T=CA1304964667SCN1A-AS1,SCN9Ac.2836A= (p.Ile946=)
c.2803A= (p.Ile935=)
c.493A= (p.Ile165=)
c.1838A=
n.870-67T=
c.2449A= (p.Ile817=)
c.2092A= (p.Ile698=)
n.3150A=
2g.166277022A>CCA429977966SCN1A-AS1,SCN9Ac.2835T>G (p.Leu945=)
c.2802T>G (p.Leu934=)
c.492T>G (p.Leu164=)
c.1837T>G
n.870-66A>C
c.2448T>G (p.Leu816=)
c.2091T>G (p.Leu697=)
n.3149T>G
2g.166277022A>GCA429977968SCN1A-AS1,SCN9Ac.2835T>C (p.Leu945=)
c.2802T>C (p.Leu934=)
c.492T>C (p.Leu164=)
c.1837T>C
n.870-66A>G
c.2448T>C (p.Leu816=)
c.2091T>C (p.Leu697=)
n.3149T>C
2g.166277022A>TCA429977969SCN1A-AS1,SCN9Ac.2835T>A (p.Leu945=)
c.2802T>A (p.Leu934=)
c.492T>A (p.Leu164=)
c.1837T>A
n.870-66A>T
c.2448T>A (p.Leu816=)
c.2091T>A (p.Leu697=)
n.3149T>A
2g.166277023A=CA1304964668SCN1A-AS1,SCN9Ac.2834T= (p.Leu945=)
c.2801T= (p.Leu934=)
c.491T= (p.Leu164=)
c.1836T=
n.870-65A=
c.2447T= (p.Leu816=)
c.2090T= (p.Leu697=)
n.3148T=
2g.166277023A>CCA349077022SCN1A-AS1,SCN9Ac.2834T>G (p.Leu945Arg)
c.2801T>G (p.Leu934Arg)
c.491T>G (p.Leu164Arg)
c.1836T>G
n.870-65A>C
c.2447T>G (p.Leu816Arg)
c.2090T>G (p.Leu697Arg)
n.3148T>G
2g.166277023A>GCA1944198SCN1A-AS1,SCN9Ac.2834T>C (p.Leu945Pro)
c.2801T>C (p.Leu934Pro)
c.491T>C (p.Leu164Pro)
c.1836T>C
n.870-65A>G
c.2447T>C (p.Leu816Pro)
c.2090T>C (p.Leu697Pro)
n.3148T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277023A>TCA349077025SCN1A-AS1,SCN9Ac.2834T>A (p.Leu945His)
c.2801T>A (p.Leu934His)
c.491T>A (p.Leu164His)
c.1836T>A
n.870-65A>T
c.2447T>A (p.Leu816His)
c.2090T>A (p.Leu697His)
n.3148T>A
 dbSNP gnomAD v2 gnomAD v4
2g.166277024G>ACA349077034SCN1A-AS1,SCN9Ac.2833C>T (p.Leu945Phe)
c.2800C>T (p.Leu934Phe)
c.490C>T (p.Leu164Phe)
c.1835C>T
n.870-64G>A
c.2446C>T (p.Leu816Phe)
c.2089C>T (p.Leu697Phe)
n.3147C>T
2g.166277024G>CCA349077037SCN1A-AS1,SCN9Ac.2833C>G (p.Leu945Val)
c.2800C>G (p.Leu934Val)
c.490C>G (p.Leu164Val)
c.1835C>G
n.870-64G>C
c.2446C>G (p.Leu816Val)
c.2089C>G (p.Leu697Val)
n.3147C>G
2g.166277024G>TCA349077041SCN1A-AS1,SCN9Ac.2833C>A (p.Leu945Ile)
c.2800C>A (p.Leu934Ile)
c.490C>A (p.Leu164Ile)
c.1835C>A
n.870-64G>T
c.2446C>A (p.Leu816Ile)
c.2089C>A (p.Leu697Ile)
n.3147C>A
2g.166277025G>ACA429977972SCN1A-AS1,SCN9Ac.2832C>T (p.Cys944=)
c.2799C>T (p.Cys933=)
c.489C>T (p.Cys163=)
c.1834C>T
n.870-63G>A
c.2445C>T (p.Cys815=)
c.2088C>T (p.Cys696=)
n.3146C>T
 dbSNP gnomAD v2 gnomAD v4
2g.166277025G>CCA349077047SCN1A-AS1,SCN9Ac.2832C>G (p.Cys944Trp)
c.2799C>G (p.Cys933Trp)
c.489C>G (p.Cys163Trp)
c.1834C>G
n.870-63G>C
c.2445C>G (p.Cys815Trp)
c.2088C>G (p.Cys696Trp)
n.3146C>G
2g.166277025G=CA1304964669SCN1A-AS1,SCN9Ac.2832C= (p.Cys944=)
c.2799C= (p.Cys933=)
c.489C= (p.Cys163=)
c.1834C=
n.870-63G=
c.2445C= (p.Cys815=)
c.2088C= (p.Cys696=)
n.3146C=
2g.166277025G>TCA349077050SCN1A-AS1,SCN9Ac.2832C>A (p.Cys944Ter)
c.2799C>A (p.Cys933Ter)
c.489C>A (p.Cys163Ter)
c.1834C>A
n.870-63G>T
c.2445C>A (p.Cys815Ter)
c.2088C>A (p.Cys696Ter)
n.3146C>A
 dbSNP
2g.166277026C>ACA349077055SCN1A-AS1,SCN9Ac.2831G>T (p.Cys944Phe)
c.2798G>T (p.Cys933Phe)
c.488G>T (p.Cys163Phe)
c.1833G>T
n.870-62C>A
c.2444G>T (p.Cys815Phe)
c.2087G>T (p.Cys696Phe)
n.3145G>T
2g.166277026C>GCA349077058SCN1A-AS1,SCN9Ac.2831G>C (p.Cys944Ser)
c.2798G>C (p.Cys933Ser)
c.488G>C (p.Cys163Ser)
c.1833G>C
n.870-62C>G
c.2444G>C (p.Cys815Ser)
c.2087G>C (p.Cys696Ser)
n.3145G>C
2g.166277026C>TCA349077061SCN1A-AS1,SCN9Ac.2831G>A (p.Cys944Tyr)
c.2798G>A (p.Cys933Tyr)
c.488G>A (p.Cys163Tyr)
c.1833G>A
n.870-62C>T
c.2444G>A (p.Cys815Tyr)
c.2087G>A (p.Cys696Tyr)
n.3145G>A
2g.166277027A>CCA349077065SCN1A-AS1,SCN9Ac.2830T>G (p.Cys944Gly)
c.2797T>G (p.Cys933Gly)
c.487T>G (p.Cys163Gly)
c.1832T>G
n.870-61A>C
c.2443T>G (p.Cys815Gly)
c.2086T>G (p.Cys696Gly)
n.3144T>G
2g.166277027A>GCA349077068SCN1A-AS1,SCN9Ac.2830T>C (p.Cys944Arg)
c.2797T>C (p.Cys933Arg)
c.487T>C (p.Cys163Arg)
c.1832T>C
n.870-61A>G
c.2443T>C (p.Cys815Arg)
c.2086T>C (p.Cys696Arg)
n.3144T>C
 gnomAD v4
2g.166277027A>TCA349077072SCN1A-AS1,SCN9Ac.2830T>A (p.Cys944Ser)
c.2797T>A (p.Cys933Ser)
c.487T>A (p.Cys163Ser)
c.1832T>A
n.870-61A>T
c.2443T>A (p.Cys815Ser)
c.2086T>A (p.Cys696Ser)
n.3144T>A
2g.166277028C>ACA349077088SCN1A-AS1,SCN9Ac.2829G>T (p.Met943Ile)
c.2796G>T (p.Met932Ile)
c.486G>T (p.Met162Ile)
c.1831G>T
n.870-60C>A
c.2442G>T (p.Met814Ile)
c.2085G>T (p.Met695Ile)
n.3143G>T
2g.166277028C=CA1304964670SCN1A-AS1,SCN9Ac.2829G= (p.Met943=)
c.2796G= (p.Met932=)
c.486G= (p.Met162=)
c.1831G=
n.870-60C=
c.2442G= (p.Met814=)
c.2085G= (p.Met695=)
n.3143G=
2g.166277028C>GCA349077090SCN1A-AS1,SCN9Ac.2829G>C (p.Met943Ile)
c.2796G>C (p.Met932Ile)
c.486G>C (p.Met162Ile)
c.1831G>C
n.870-60C>G
c.2442G>C (p.Met814Ile)
c.2085G>C (p.Met695Ile)
n.3143G>C
 gnomAD v4
2g.166277028C>TCA59794487SCN1A-AS1,SCN9Ac.2829G>A (p.Met943Ile)
c.2796G>A (p.Met932Ile)
c.486G>A (p.Met162Ile)
c.1831G>A
n.870-60C>T
c.2442G>A (p.Met814Ile)
c.2085G>A (p.Met695Ile)
n.3143G>A
 ClinVar dbSNP
2g.166277029A=CA1304964671SCN1A-AS1,SCN9Ac.2828T= (p.Met943=)
c.2795T= (p.Met932=)
c.485T= (p.Met162=)
c.1830T=
n.870-59A=
c.2441T= (p.Met814=)
c.2084T= (p.Met695=)
n.3142T=
2g.166277029A>CCA349077099SCN1A-AS1,SCN9Ac.2828T>G (p.Met943Arg)
c.2795T>G (p.Met932Arg)
c.485T>G (p.Met162Arg)
c.1830T>G
n.870-59A>C
c.2441T>G (p.Met814Arg)
c.2084T>G (p.Met695Arg)
n.3142T>G
2g.166277029A>GCA349077091SCN1A-AS1,SCN9Ac.2828T>C (p.Met943Thr)
c.2795T>C (p.Met932Thr)
c.485T>C (p.Met162Thr)
c.1830T>C
n.870-59A>G
c.2441T>C (p.Met814Thr)
c.2084T>C (p.Met695Thr)
n.3142T>C
 ClinVar dbSNP gnomAD v4
2g.166277029A>TCA349077096SCN1A-AS1,SCN9Ac.2828T>A (p.Met943Lys)
c.2795T>A (p.Met932Lys)
c.485T>A (p.Met162Lys)
c.1830T>A
n.870-59A>T
c.2441T>A (p.Met814Lys)
c.2084T>A (p.Met695Lys)
n.3142T>A
2g.166277030T>ACA349077105SCN1A-AS1,SCN9Ac.2827A>T (p.Met943Leu)
c.2794A>T (p.Met932Leu)
c.484A>T (p.Met162Leu)
c.1829A>T
n.870-58T>A
c.2440A>T (p.Met814Leu)
c.2083A>T (p.Met695Leu)
n.3141A>T
2g.166277030T>CCA349077108SCN1A-AS1,SCN9Ac.2827A>G (p.Met943Val)
c.2794A>G (p.Met932Val)
c.484A>G (p.Met162Val)
c.1829A>G
n.870-58T>C
c.2440A>G (p.Met814Val)
c.2083A>G (p.Met695Val)
n.3141A>G
 gnomAD v4
2g.166277030T>GCA147603SCN1A-AS1,SCN9Ac.2827A>C (p.Met943Leu)
c.2794A>C (p.Met932Leu)
c.484A>C (p.Met162Leu)
c.1829A>C
n.870-58T>G
c.2440A>C (p.Met814Leu)
c.2083A>C (p.Met695Leu)
n.3141A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277030T=CA1304964672SCN1A-AS1,SCN9Ac.2827A= (p.Met943=)
c.2794A= (p.Met932=)
c.484A= (p.Met162=)
c.1829A=
n.870-58T=
c.2440A= (p.Met814=)
c.2083A= (p.Met695=)
n.3141A=
2g.166277031A>CCA429977986SCN1A-AS1,SCN9Ac.2826T>G (p.Ala942=)
c.2793T>G (p.Ala931=)
c.483T>G (p.Ala161=)
c.1828T>G
n.870-57A>C
c.2439T>G (p.Ala813=)
c.2082T>G (p.Ala694=)
n.3140T>G
2g.166277031A>GCA429977987SCN1A-AS1,SCN9Ac.2826T>C (p.Ala942=)
c.2793T>C (p.Ala931=)
c.483T>C (p.Ala161=)
c.1828T>C
n.870-57A>G
c.2439T>C (p.Ala813=)
c.2082T>C (p.Ala694=)
n.3140T>C
2g.166277031A>TCA429977988SCN1A-AS1,SCN9Ac.2826T>A (p.Ala942=)
c.2793T>A (p.Ala931=)
c.483T>A (p.Ala161=)
c.1828T>A
n.870-57A>T
c.2439T>A (p.Ala813=)
c.2082T>A (p.Ala694=)
n.3140T>A
2g.166277032G>ACA349077115SCN1A-AS1,SCN9Ac.2825C>T (p.Ala942Val)
c.2792C>T (p.Ala931Val)
c.482C>T (p.Ala161Val)
c.1827C>T
n.870-56G>A
c.2438C>T (p.Ala813Val)
c.2081C>T (p.Ala694Val)
n.3139C>T
2g.166277032G>CCA349077117SCN1A-AS1,SCN9Ac.2825C>G (p.Ala942Gly)
c.2792C>G (p.Ala931Gly)
c.482C>G (p.Ala161Gly)
c.1827C>G
n.870-56G>C
c.2438C>G (p.Ala813Gly)
c.2081C>G (p.Ala694Gly)
n.3139C>G
2g.166277032G>TCA349077120SCN1A-AS1,SCN9Ac.2825C>A (p.Ala942Asp)
c.2792C>A (p.Ala931Asp)
c.482C>A (p.Ala161Asp)
c.1827C>A
n.870-56G>T
c.2438C>A (p.Ala813Asp)
c.2081C>A (p.Ala694Asp)
n.3139C>A
2g.166277033C>ACA349077123SCN1A-AS1,SCN9Ac.2824G>T (p.Ala942Ser)
c.2791G>T (p.Ala931Ser)
c.481G>T (p.Ala161Ser)
c.1826G>T
n.870-55C>A
c.2437G>T (p.Ala813Ser)
c.2080G>T (p.Ala694Ser)
n.3138G>T
 gnomAD v4
2g.166277033C=CA1304964692SCN1A-AS1,SCN9Ac.2824G= (p.Ala942=)
c.2791G= (p.Ala931=)
c.481G= (p.Ala161=)
c.1826G=
n.870-55C=
c.2437G= (p.Ala813=)
c.2080G= (p.Ala694=)
n.3138G=
2g.166277033C>GCA349077126SCN1A-AS1,SCN9Ac.2824G>C (p.Ala942Pro)
c.2791G>C (p.Ala931Pro)
c.481G>C (p.Ala161Pro)
c.1826G>C
n.870-55C>G
c.2437G>C (p.Ala813Pro)
c.2080G>C (p.Ala694Pro)
n.3138G>C
2g.166277033C>TCA1944199SCN1A-AS1,SCN9Ac.2824G>A (p.Ala942Thr)
c.2791G>A (p.Ala931Thr)
c.481G>A (p.Ala161Thr)
c.1826G>A
n.870-55C>T
c.2437G>A (p.Ala813Thr)
c.2080G>A (p.Ala694Thr)
n.3138G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277034T>ACA349077134SCN1A-AS1,SCN9Ac.2823A>T (p.Gln941His)
c.2790A>T (p.Gln930His)
c.480A>T (p.Gln160His)
c.1825A>T
n.870-54T>A
c.2436A>T (p.Gln812His)
c.2079A>T (p.Gln693His)
n.3137A>T
 ClinVar dbSNP gnomAD v4
2g.166277034T>CCA429977992SCN1A-AS1,SCN9Ac.2823A>G (p.Gln941=)
c.2790A>G (p.Gln930=)
c.480A>G (p.Gln160=)
c.1825A>G
n.870-54T>C
c.2436A>G (p.Gln812=)
c.2079A>G (p.Gln693=)
n.3137A>G
2g.166277034T>GCA349077139SCN1A-AS1,SCN9Ac.2823A>C (p.Gln941His)
c.2790A>C (p.Gln930His)
c.480A>C (p.Gln160His)
c.1825A>C
n.870-54T>G
c.2436A>C (p.Gln812His)
c.2079A>C (p.Gln693His)
n.3137A>C
2g.166277035T>ACA349077149SCN1A-AS1,SCN9Ac.2822A>T (p.Gln941Leu)
c.2789A>T (p.Gln930Leu)
c.479A>T (p.Gln160Leu)
c.1824A>T
n.870-53T>A
c.2435A>T (p.Gln812Leu)
c.2078A>T (p.Gln693Leu)
n.3136A>T
 COSMIC COSMIC
2g.166277035T>CCA349077144SCN1A-AS1,SCN9Ac.2822A>G (p.Gln941Arg)
c.2789A>G (p.Gln930Arg)
c.479A>G (p.Gln160Arg)
c.1824A>G
n.870-53T>C
c.2435A>G (p.Gln812Arg)
c.2078A>G (p.Gln693Arg)
n.3136A>G
2g.166277035T>GCA349077146SCN1A-AS1,SCN9Ac.2822A>C (p.Gln941Pro)
c.2789A>C (p.Gln930Pro)
c.479A>C (p.Gln160Pro)
c.1824A>C
n.870-53T>G
c.2435A>C (p.Gln812Pro)
c.2078A>C (p.Gln693Pro)
n.3136A>C
2g.166277036G>ACA349077155SCN1A-AS1,SCN9Ac.2821C>T (p.Gln941Ter)
c.2788C>T (p.Gln930Ter)
c.478C>T (p.Gln160Ter)
c.1823C>T
n.870-52G>A
c.2434C>T (p.Gln812Ter)
c.2077C>T (p.Gln693Ter)
n.3135C>T
 dbSNP
2g.166277036G>CCA349077157SCN1A-AS1,SCN9Ac.2821C>G (p.Gln941Glu)
c.2788C>G (p.Gln930Glu)
c.478C>G (p.Gln160Glu)
c.1823C>G
n.870-52G>C
c.2434C>G (p.Gln812Glu)
c.2077C>G (p.Gln693Glu)
n.3135C>G
2g.166277036G=CA1304964715SCN1A-AS1,SCN9Ac.2821C= (p.Gln941=)
c.2788C= (p.Gln930=)
c.478C= (p.Gln160=)
c.1823C=
n.870-52G=
c.2434C= (p.Gln812=)
c.2077C= (p.Gln693=)
n.3135C=
2g.166277036G>TCA349077161SCN1A-AS1,SCN9Ac.2821C>A (p.Gln941Lys)
c.2788C>A (p.Gln930Lys)
c.478C>A (p.Gln160Lys)
c.1823C>A
n.870-52G>T
c.2434C>A (p.Gln812Lys)
c.2077C>A (p.Gln693Lys)
n.3135C>A
2g.166277037A>CCA429978000SCN1A-AS1,SCN9Ac.2820T>G (p.Gly940=)
c.2787T>G (p.Gly929=)
c.477T>G (p.Gly159=)
c.1822T>G
n.870-51A>C
c.2433T>G (p.Gly811=)
c.2076T>G (p.Gly692=)
n.3134T>G
2g.166277037A>GCA429977995SCN1A-AS1,SCN9Ac.2820T>C (p.Gly940=)
c.2787T>C (p.Gly929=)
c.477T>C (p.Gly159=)
c.1822T>C
n.870-51A>G
c.2433T>C (p.Gly811=)
c.2076T>C (p.Gly692=)
n.3134T>C
2g.166277037A>TCA429977997SCN1A-AS1,SCN9Ac.2820T>A (p.Gly940=)
c.2787T>A (p.Gly929=)
c.477T>A (p.Gly159=)
c.1822T>A
n.870-51A>T
c.2433T>A (p.Gly811=)
c.2076T>A (p.Gly692=)
n.3134T>A
2g.166277038C>ACA349077166SCN1A-AS1,SCN9Ac.2819G>T (p.Gly940Val)
c.2786G>T (p.Gly929Val)
c.476G>T (p.Gly159Val)
c.1821G>T
n.870-50C>A
c.2432G>T (p.Gly811Val)
c.2075G>T (p.Gly692Val)
n.3133G>T
2g.166277038C>GCA349077168SCN1A-AS1,SCN9Ac.2819G>C (p.Gly940Ala)
c.2786G>C (p.Gly929Ala)
c.476G>C (p.Gly159Ala)
c.1821G>C
n.870-50C>G
c.2432G>C (p.Gly811Ala)
c.2075G>C (p.Gly692Ala)
n.3133G>C
2g.166277038C>TCA349077170SCN1A-AS1,SCN9Ac.2819G>A (p.Gly940Asp)
c.2786G>A (p.Gly929Asp)
c.476G>A (p.Gly159Asp)
c.1821G>A
n.870-50C>T
c.2432G>A (p.Gly811Asp)
c.2075G>A (p.Gly692Asp)
n.3133G>A
2g.166277039C>ACA349077173SCN1A-AS1,SCN9Ac.2818G>T (p.Gly940Cys)
c.2785G>T (p.Gly929Cys)
c.475G>T (p.Gly159Cys)
c.1820G>T
n.870-49C>A
c.2431G>T (p.Gly811Cys)
c.2074G>T (p.Gly692Cys)
n.3132G>T
2g.166277039C=CA1304964719SCN1A-AS1,SCN9Ac.2818G= (p.Gly940=)
c.2785G= (p.Gly929=)
c.475G= (p.Gly159=)
c.1820G=
n.870-49C=
c.2431G= (p.Gly811=)
c.2074G= (p.Gly692=)
n.3132G=
2g.166277039C>GCA349077176SCN1A-AS1,SCN9Ac.2818G>C (p.Gly940Arg)
c.2785G>C (p.Gly929Arg)
c.475G>C (p.Gly159Arg)
c.1820G>C
n.870-49C>G
c.2431G>C (p.Gly811Arg)
c.2074G>C (p.Gly692Arg)
n.3132G>C
 ClinVar dbSNP gnomAD v4
2g.166277039C>TCA349077178SCN1A-AS1,SCN9Ac.2818G>A (p.Gly940Ser)
c.2785G>A (p.Gly929Ser)
c.475G>A (p.Gly159Ser)
c.1820G>A
n.870-49C>T
c.2431G>A (p.Gly811Ser)
c.2074G>A (p.Gly692Ser)
n.3132G>A
2g.166277040A>CCA429978003SCN1A-AS1,SCN9Ac.2817T>G (p.Ala939=)
c.2784T>G (p.Ala928=)
c.474T>G (p.Ala158=)
c.1819T>G
n.870-48A>C
c.2430T>G (p.Ala810=)
c.2073T>G (p.Ala691=)
n.3131T>G
2g.166277040A>GCA429978007SCN1A-AS1,SCN9Ac.2817T>C (p.Ala939=)
c.2784T>C (p.Ala928=)
c.474T>C (p.Ala158=)
c.1819T>C
n.870-48A>G
c.2430T>C (p.Ala810=)
c.2073T>C (p.Ala691=)
n.3131T>C
2g.166277040A>TCA429978004SCN1A-AS1,SCN9Ac.2817T>A (p.Ala939=)
c.2784T>A (p.Ala928=)
c.474T>A (p.Ala158=)
c.1819T>A
n.870-48A>T
c.2430T>A (p.Ala810=)
c.2073T>A (p.Ala691=)
n.3131T>A
2g.166277041G>ACA349077184SCN1A-AS1,SCN9Ac.2816C>T (p.Ala939Val)
c.2783C>T (p.Ala928Val)
c.473C>T (p.Ala158Val)
c.1818C>T
n.870-47G>A
c.2429C>T (p.Ala810Val)
c.2072C>T (p.Ala691Val)
n.3130C>T
 ClinVar dbSNP
2g.166277041G>CCA349077187SCN1A-AS1,SCN9Ac.2816C>G (p.Ala939Gly)
c.2783C>G (p.Ala928Gly)
c.473C>G (p.Ala158Gly)
c.1818C>G
n.870-47G>C
c.2429C>G (p.Ala810Gly)
c.2072C>G (p.Ala691Gly)
n.3130C>G
2g.166277041G=CA1304964726SCN1A-AS1,SCN9Ac.2816C= (p.Ala939=)
c.2783C= (p.Ala928=)
c.473C= (p.Ala158=)
c.1818C=
n.870-47G=
c.2429C= (p.Ala810=)
c.2072C= (p.Ala691=)
n.3130C=
2g.166277041G>TCA349077188SCN1A-AS1,SCN9Ac.2816C>A (p.Ala939Asp)
c.2783C>A (p.Ala928Asp)
c.473C>A (p.Ala158Asp)
c.1818C>A
n.870-47G>T
c.2429C>A (p.Ala810Asp)
c.2072C>A (p.Ala691Asp)
n.3130C>A
2g.166277042C>ACA349077200SCN1A-AS1,SCN9Ac.2815G>T (p.Ala939Ser)
c.2782G>T (p.Ala928Ser)
c.472G>T (p.Ala158Ser)
c.1817G>T
n.870-46C>A
c.2428G>T (p.Ala810Ser)
c.2071G>T (p.Ala691Ser)
n.3129G>T
 ClinVar dbSNP
2g.166277042C=CA1304964737SCN1A-AS1,SCN9Ac.2815G= (p.Ala939=)
c.2782G= (p.Ala928=)
c.472G= (p.Ala158=)
c.1817G=
n.870-46C=
c.2428G= (p.Ala810=)
c.2071G= (p.Ala691=)
n.3129G=
2g.166277042C>GCA349077197SCN1A-AS1,SCN9Ac.2815G>C (p.Ala939Pro)
c.2782G>C (p.Ala928Pro)
c.472G>C (p.Ala158Pro)
c.1817G>C
n.870-46C>G
c.2428G>C (p.Ala810Pro)
c.2071G>C (p.Ala691Pro)
n.3129G>C
2g.166277042C>TCA16617322SCN1A-AS1,SCN9Ac.2815G>A (p.Ala939Thr)
c.2782G>A (p.Ala928Thr)
c.472G>A (p.Ala158Thr)
c.1817G>A
n.870-46C>T
c.2428G>A (p.Ala810Thr)
c.2071G>A (p.Ala691Thr)
n.3129G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277043G>ACA59794494SCN1A-AS1,SCN9Ac.2814C>T (p.Val938=)
c.2781C>T (p.Val927=)
c.471C>T (p.Val157=)
c.1816C>T
n.870-45G>A
c.2427C>T (p.Val809=)
c.2070C>T (p.Val690=)
n.3128C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166277043G>CCA429978016SCN1A-AS1,SCN9Ac.2814C>G (p.Val938=)
c.2781C>G (p.Val927=)
c.471C>G (p.Val157=)
c.1816C>G
n.870-45G>C
c.2427C>G (p.Val809=)
c.2070C>G (p.Val690=)
n.3128C>G
2g.166277043G=CA1304964739SCN1A-AS1,SCN9Ac.2814C= (p.Val938=)
c.2781C= (p.Val927=)
c.471C= (p.Val157=)
c.1816C=
n.870-45G=
c.2427C= (p.Val809=)
c.2070C= (p.Val690=)
n.3128C=
2g.166277043G>TCA429978018SCN1A-AS1,SCN9Ac.2814C>A (p.Val938=)
c.2781C>A (p.Val927=)
c.471C>A (p.Val157=)
c.1816C>A
n.870-45G>T
c.2427C>A (p.Val809=)
c.2070C>A (p.Val690=)
n.3128C>A
2g.166277044A>CCA349077205SCN1A-AS1,SCN9Ac.2813T>G (p.Val938Gly)
c.2780T>G (p.Val927Gly)
c.470T>G (p.Val157Gly)
c.1815T>G
n.870-44A>C
c.2426T>G (p.Val809Gly)
c.2069T>G (p.Val690Gly)
n.3127T>G
2g.166277044A>GCA349077207SCN1A-AS1,SCN9Ac.2813T>C (p.Val938Ala)
c.2780T>C (p.Val927Ala)
c.470T>C (p.Val157Ala)
c.1815T>C
n.870-44A>G
c.2426T>C (p.Val809Ala)
c.2069T>C (p.Val690Ala)
n.3127T>C
2g.166277044A>TCA349077211SCN1A-AS1,SCN9Ac.2813T>A (p.Val938Asp)
c.2780T>A (p.Val927Asp)
c.470T>A (p.Val157Asp)
c.1815T>A
n.870-44A>T
c.2426T>A (p.Val809Asp)
c.2069T>A (p.Val690Asp)
n.3127T>A
2g.166277045C>ACA349077217SCN1A-AS1,SCN9Ac.2812G>T (p.Val938Phe)
c.2779G>T (p.Val927Phe)
c.469G>T (p.Val157Phe)
c.1814G>T
n.870-43C>A
c.2425G>T (p.Val809Phe)
c.2068G>T (p.Val690Phe)
n.3126G>T
2g.166277045C>GCA349077220SCN1A-AS1,SCN9Ac.2812G>C (p.Val938Leu)
c.2779G>C (p.Val927Leu)
c.469G>C (p.Val157Leu)
c.1814G>C
n.870-43C>G
c.2425G>C (p.Val809Leu)
c.2068G>C (p.Val690Leu)
n.3126G>C
2g.166277045C>TCA349077223SCN1A-AS1,SCN9Ac.2812G>A (p.Val938Ile)
c.2779G>A (p.Val927Ile)
c.469G>A (p.Val157Ile)
c.1814G>A
n.870-43C>T
c.2425G>A (p.Val809Ile)
c.2068G>A (p.Val690Ile)
n.3126G>A
2g.166277046C>ACA349077230SCN1A-AS1,SCN9Ac.2811G>T (p.Glu937Asp)
c.2778G>T (p.Glu926Asp)
c.468G>T (p.Glu156Asp)
c.1813G>T
n.870-42C>A
c.2424G>T (p.Glu808Asp)
c.2067G>T (p.Glu689Asp)
n.3125G>T
2g.166277046C=CA1304964741SCN1A-AS1,SCN9Ac.2811G= (p.Glu937=)
c.2778G= (p.Glu926=)
c.468G= (p.Glu156=)
c.1813G=
n.870-42C=
c.2424G= (p.Glu808=)
c.2067G= (p.Glu689=)
n.3125G=
2g.166277046C>GCA349077227SCN1A-AS1,SCN9Ac.2811G>C (p.Glu937Asp)
c.2778G>C (p.Glu926Asp)
c.468G>C (p.Glu156Asp)
c.1813G>C
n.870-42C>G
c.2424G>C (p.Glu808Asp)
c.2067G>C (p.Glu689Asp)
n.3125G>C
2g.166277046C>TCA429978022SCN1A-AS1,SCN9Ac.2811G>A (p.Glu937=)
c.2778G>A (p.Glu926=)
c.468G>A (p.Glu156=)
c.1813G>A
n.870-42C>T
c.2424G>A (p.Glu808=)
c.2067G>A (p.Glu689=)
n.3125G>A
 dbSNP
2g.166277047T>ACA1944200SCN1A-AS1,SCN9Ac.2810A>T (p.Glu937Val)
c.2777A>T (p.Glu926Val)
c.467A>T (p.Glu156Val)
c.1812A>T
n.870-41T>A
c.2423A>T (p.Glu808Val)
c.2066A>T (p.Glu689Val)
n.3124A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277047T>CCA349077236SCN1A-AS1,SCN9Ac.2810A>G (p.Glu937Gly)
c.2777A>G (p.Glu926Gly)
c.467A>G (p.Glu156Gly)
c.1812A>G
n.870-41T>C
c.2423A>G (p.Glu808Gly)
c.2066A>G (p.Glu689Gly)
n.3124A>G
2g.166277047T>GCA349077242SCN1A-AS1,SCN9Ac.2810A>C (p.Glu937Ala)
c.2777A>C (p.Glu926Ala)
c.467A>C (p.Glu156Ala)
c.1812A>C
n.870-41T>G
c.2423A>C (p.Glu808Ala)
c.2066A>C (p.Glu689Ala)
n.3124A>C
2g.166277047T=CA1304964748SCN1A-AS1,SCN9Ac.2810A= (p.Glu937=)
c.2777A= (p.Glu926=)
c.467A= (p.Glu156=)
c.1812A=
n.870-41T=
c.2423A= (p.Glu808=)
c.2066A= (p.Glu689=)
n.3124A=
2g.166277048C>ACA349077248SCN1A-AS1,SCN9Ac.2809G>T (p.Glu937Ter)
c.2776G>T (p.Glu926Ter)
c.466G>T (p.Glu156Ter)
c.1811G>T
n.870-40C>A
c.2422G>T (p.Glu808Ter)
c.2065G>T (p.Glu689Ter)
n.3123G>T
 dbSNP
2g.166277048C=CA1304964751SCN1A-AS1,SCN9Ac.2809G= (p.Glu937=)
c.2776G= (p.Glu926=)
c.466G= (p.Glu156=)
c.1811G=
n.870-40C=
c.2422G= (p.Glu808=)
c.2065G= (p.Glu689=)
n.3123G=
2g.166277048C>GCA349077262SCN1A-AS1,SCN9Ac.2809G>C (p.Glu937Gln)
c.2776G>C (p.Glu926Gln)
c.466G>C (p.Glu156Gln)
c.1811G>C
n.870-40C>G
c.2422G>C (p.Glu808Gln)
c.2065G>C (p.Glu689Gln)
n.3123G>C
2g.166277048C>TCA59794502SCN1A-AS1,SCN9Ac.2809G>A (p.Glu937Lys)
c.2776G>A (p.Glu926Lys)
c.466G>A (p.Glu156Lys)
c.1811G>A
n.870-40C>T
c.2422G>A (p.Glu808Lys)
c.2065G>A (p.Glu689Lys)
n.3123G>A
 dbSNP
2g.166277049C>ACA349077271SCN1A-AS1,SCN9Ac.2808G>T (p.Met936Ile)
c.2775G>T (p.Met925Ile)
c.465G>T (p.Met155Ile)
c.1810G>T
n.870-39C>A
c.2421G>T (p.Met807Ile)
c.2064G>T (p.Met688Ile)
n.3122G>T
2g.166277049C>GCA349077276SCN1A-AS1,SCN9Ac.2808G>C (p.Met936Ile)
c.2775G>C (p.Met925Ile)
c.465G>C (p.Met155Ile)
c.1810G>C
n.870-39C>G
c.2421G>C (p.Met807Ile)
c.2064G>C (p.Met688Ile)
n.3122G>C
2g.166277049C>TCA349077274SCN1A-AS1,SCN9Ac.2808G>A (p.Met936Ile)
c.2775G>A (p.Met925Ile)
c.465G>A (p.Met155Ile)
c.1810G>A
n.870-39C>T
c.2421G>A (p.Met807Ile)
c.2064G>A (p.Met688Ile)
n.3122G>A
 gnomAD v4
2g.166277050A>CCA349077281SCN1A-AS1,SCN9Ac.2807T>G (p.Met936Arg)
c.2774T>G (p.Met925Arg)
c.464T>G (p.Met155Arg)
c.1809T>G
n.870-38A>C
c.2420T>G (p.Met807Arg)
c.2063T>G (p.Met688Arg)
n.3121T>G
2g.166277050A>GCA349077283SCN1A-AS1,SCN9Ac.2807T>C (p.Met936Thr)
c.2774T>C (p.Met925Thr)
c.464T>C (p.Met155Thr)
c.1809T>C
n.870-38A>G
c.2420T>C (p.Met807Thr)
c.2063T>C (p.Met688Thr)
n.3121T>C
 ClinVar dbSNP
2g.166277050A>TCA349077287SCN1A-AS1,SCN9Ac.2807T>A (p.Met936Lys)
c.2774T>A (p.Met925Lys)
c.464T>A (p.Met155Lys)
c.1809T>A
n.870-38A>T
c.2420T>A (p.Met807Lys)
c.2063T>A (p.Met688Lys)
n.3121T>A
2g.166277051T>ACA349077291SCN1A-AS1,SCN9Ac.2806A>T (p.Met936Leu)
c.2773A>T (p.Met925Leu)
c.463A>T (p.Met155Leu)
c.1808A>T
n.870-37T>A
c.2419A>T (p.Met807Leu)
c.2062A>T (p.Met688Leu)
n.3120A>T
2g.166277051T>CCA349077294SCN1A-AS1,SCN9Ac.2806A>G (p.Met936Val)
c.2773A>G (p.Met925Val)
c.463A>G (p.Met155Val)
c.1808A>G
n.870-37T>C
c.2419A>G (p.Met807Val)
c.2062A>G (p.Met688Val)
n.3120A>G
 dbSNP gnomAD v2
2g.166277051T>GCA349077296SCN1A-AS1,SCN9Ac.2806A>C (p.Met936Leu)
c.2773A>C (p.Met925Leu)
c.463A>C (p.Met155Leu)
c.1808A>C
n.870-37T>G
c.2419A>C (p.Met807Leu)
c.2062A>C (p.Met688Leu)
n.3120A>C
2g.166277051T=CA1304964754SCN1A-AS1,SCN9Ac.2806A= (p.Met936=)
c.2773A= (p.Met925=)
c.463A= (p.Met155=)
c.1808A=
n.870-37T=
c.2419A= (p.Met807=)
c.2062A= (p.Met688=)
n.3120A=

Number of alleles fetched