Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166251869C>ACA349072134SCN1A-AS1,SCN9Ac.3368G>T (p.Ser1123Ile)
c.450G>T (n.450G>T)
c.3335G>T (p.Ser1112Ile)
c.1993G>T
n.826C>A
c.2981G>T (p.Ser994Ile)
c.2624G>T (p.Ser875Ile)
 gnomAD v4
2g.166251869C=CA1304953821SCN1A-AS1,SCN9Ac.3368G= (p.Ser1123=)
c.450G= (n.450G=)
c.3335G= (p.Ser1112=)
c.1993G=
n.826C=
c.2981G= (p.Ser994=)
c.2624G= (p.Ser875=)
2g.166251869C>GCA349072135SCN1A-AS1,SCN9Ac.3368G>C (p.Ser1123Thr)
c.450G>C (n.450G>C)
c.3335G>C (p.Ser1112Thr)
c.1993G>C
n.826C>G
c.2981G>C (p.Ser994Thr)
c.2624G>C (p.Ser875Thr)
2g.166251869C>TCA1944075SCN1A-AS1,SCN9Ac.3368G>A (p.Ser1123Asn)
c.450G>A (n.450G>A)
c.3335G>A (p.Ser1112Asn)
c.1993G>A
n.826C>T
c.2981G>A (p.Ser994Asn)
c.2624G>A (p.Ser875Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166251869_166251878delinsCTTGACCGGTCA1304953822SCN1A-AS1,SCN9Ac.3359_3368delinsACCGGTCAAG (p.Asn1120=)
c.441_450delinsACCGGTCAAG (n.441_450delinsACCGGTCAAG)
c.3326_3335delinsACCGGTCAAG (p.Asn1109=)
c.1984_1993delinsACCGGTCAAG
n.826_835delinsCTTGACCGGT
c.2972_2981delinsACCGGTCAAG (p.Asn991=)
c.2615_2624delinsACCGGTCAAG (p.Asn872=)
2g.166251870T>ACA349072136SCN1A-AS1,SCN9Ac.3367A>T (p.Ser1123Cys)
c.449A>T (n.449A>T)
c.3334A>T (p.Ser1112Cys)
c.1992A>T
n.827T>A
c.2980A>T (p.Ser994Cys)
c.2623A>T (p.Ser875Cys)
 dbSNP COSMIC COSMIC
2g.166251870T>CCA1944076SCN1A-AS1,SCN9Ac.3367A>G (p.Ser1123Gly)
c.449A>G (n.449A>G)
c.3334A>G (p.Ser1112Gly)
c.1992A>G
n.827T>C
c.2980A>G (p.Ser994Gly)
c.2623A>G (p.Ser875Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166251870T>GCA349072137SCN1A-AS1,SCN9Ac.3367A>C (p.Ser1123Arg)
c.449A>C (n.449A>C)
c.3334A>C (p.Ser1112Arg)
c.1992A>C
n.827T>G
c.2980A>C (p.Ser994Arg)
c.2623A>C (p.Ser875Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.166251870T=CA1304953824SCN1A-AS1,SCN9Ac.3367A= (p.Ser1123=)
c.449A= (n.449A=)
c.3334A= (p.Ser1112=)
c.1992A=
n.827T=
c.2980A= (p.Ser994=)
c.2623A= (p.Ser875=)
2g.166251872_166251880delCA1304953823SCN1A-AS1,SCN9Ac.3359_3367del (p.Asn1120_Ser1122del)
c.441_449del (n.441_449del)
c.3326_3334del (p.Asn1109_Ser1111del)
c.1984_1992del
n.829_837del
c.2972_2980del (p.Asn991_Ser993del)
c.2615_2623del (p.Asn872_Ser874del)
 dbSNP
2g.166251871T>ACA429902562SCN1A-AS1,SCN9Ac.3366A>T (p.Ser1122=)
c.448A>T (n.448A>T)
c.3333A>T (p.Ser1111=)
c.1991A>T
n.828T>A
c.2979A>T (p.Ser993=)
c.2622A>T (p.Ser874=)
2g.166251871T>CCA429902561SCN1A-AS1,SCN9Ac.3366A>G (p.Ser1122=)
c.448A>G (n.448A>G)
c.3333A>G (p.Ser1111=)
c.1991A>G
n.828T>C
c.2979A>G (p.Ser993=)
c.2622A>G (p.Ser874=)
2g.166251871T>GCA429902559SCN1A-AS1,SCN9Ac.3366A>C (p.Ser1122=)
c.448A>C (n.448A>C)
c.3333A>C (p.Ser1111=)
c.1991A>C
n.828T>G
c.2979A>C (p.Ser993=)
c.2622A>C (p.Ser874=)
 ClinVar
2g.166251872G>ACA349072141SCN1A-AS1,SCN9Ac.3365C>T (p.Ser1122Leu)
c.447C>T (n.447C>T)
c.3332C>T (p.Ser1111Leu)
c.1990C>T
n.829G>A
c.2978C>T (p.Ser993Leu)
c.2621C>T (p.Ser874Leu)
 ClinVar dbSNP gnomAD v4
2g.166251872G>CCA349072143SCN1A-AS1,SCN9Ac.3365C>G (p.Ser1122Ter)
c.447C>G (n.447C>G)
c.3332C>G (p.Ser1111Ter)
c.1990C>G
n.829G>C
c.2978C>G (p.Ser993Ter)
c.2621C>G (p.Ser874Ter)
2g.166251872G>TCA349072142SCN1A-AS1,SCN9Ac.3365C>A (p.Ser1122Ter)
c.447C>A (n.447C>A)
c.3332C>A (p.Ser1111Ter)
c.1990C>A
n.829G>T
c.2978C>A (p.Ser993Ter)
c.2621C>A (p.Ser874Ter)
2g.166251873A>CCA349072145SCN1A-AS1,SCN9Ac.3364T>G (p.Ser1122Ala)
c.446T>G (n.446T>G)
c.3331T>G (p.Ser1111Ala)
c.1989T>G
n.830A>C
c.2977T>G (p.Ser993Ala)
c.2620T>G (p.Ser874Ala)
2g.166251873A>GCA349072149SCN1A-AS1,SCN9Ac.3364T>C (p.Ser1122Pro)
c.446T>C (n.446T>C)
c.3331T>C (p.Ser1111Pro)
c.1989T>C
n.830A>G
c.2977T>C (p.Ser993Pro)
c.2620T>C (p.Ser874Pro)
 dbSNP gnomAD v4
2g.166251873A>TCA349072147SCN1A-AS1,SCN9Ac.3364T>A (p.Ser1122Thr)
c.446T>A (n.446T>A)
c.3331T>A (p.Ser1111Thr)
c.1989T>A
n.830A>T
c.2977T>A (p.Ser993Thr)
c.2620T>A (p.Ser874Thr)
2g.166251874C>ACA429902567SCN1A-AS1,SCN9Ac.3363G>T (p.Arg1121=)
c.445G>T (n.445G>T)
c.3330G>T (p.Arg1110=)
c.1988G>T
n.831C>A
c.2976G>T (p.Arg992=)
c.2619G>T (p.Arg873=)
2g.166251874C=CA1304953825SCN1A-AS1,SCN9Ac.3363G= (p.Arg1121=)
c.445G= (n.445G=)
c.3330G= (p.Arg1110=)
c.1988G=
n.831C=
c.2976G= (p.Arg992=)
c.2619G= (p.Arg873=)
2g.166251874C>GCA429902568SCN1A-AS1,SCN9Ac.3363G>C (p.Arg1121=)
c.445G>C (n.445G>C)
c.3330G>C (p.Arg1110=)
c.1988G>C
n.831C>G
c.2976G>C (p.Arg992=)
c.2619G>C (p.Arg873=)
2g.166251874C>TCA1944077SCN1A-AS1,SCN9Ac.3363G>A (p.Arg1121=)
c.445G>A (n.445G>A)
c.3330G>A (p.Arg1110=)
c.1988G>A
n.831C>T
c.2976G>A (p.Arg992=)
c.2619G>A (p.Arg873=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166251875C>ACA349072151SCN1A-AS1,SCN9Ac.3362G>T (p.Arg1121Leu)
c.444G>T (n.444G>T)
c.3329G>T (p.Arg1110Leu)
c.1987G>T
n.832C>A
c.2975G>T (p.Arg992Leu)
c.2618G>T (p.Arg873Leu)
2g.166251875C=CA1304953826SCN1A-AS1,SCN9Ac.3362G= (p.Arg1121=)
c.444G= (n.444G=)
c.3329G= (p.Arg1110=)
c.1987G=
n.832C=
c.2975G= (p.Arg992=)
c.2618G= (p.Arg873=)
2g.166251875C>GCA1944078SCN1A-AS1,SCN9Ac.3362G>C (p.Arg1121Pro)
c.444G>C (n.444G>C)
c.3329G>C (p.Arg1110Pro)
c.1987G>C
n.832C>G
c.2975G>C (p.Arg992Pro)
c.2618G>C (p.Arg873Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166251875C>TCA155125SCN1A-AS1,SCN9Ac.3362G>A (p.Arg1121Gln)
c.444G>A (n.444G>A)
c.3329G>A (p.Arg1110Gln)
c.1987G>A
n.832C>T
c.2975G>A (p.Arg992Gln)
c.2618G>A (p.Arg873Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166251876G>ACA201381SCN1A-AS1,SCN9Ac.3361C>T (p.Arg1121Trp)
c.443C>T (n.443C>T)
c.3328C>T (p.Arg1110Trp)
c.1986C>T
n.833G>A
c.2974C>T (p.Arg992Trp)
c.2617C>T (p.Arg873Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.166251876G>CCA349072154SCN1A-AS1,SCN9Ac.3361C>G (p.Arg1121Gly)
c.443C>G (n.443C>G)
c.3328C>G (p.Arg1110Gly)
c.1986C>G
n.833G>C
c.2974C>G (p.Arg992Gly)
c.2617C>G (p.Arg873Gly)
2g.166251876G=CA1304953827SCN1A-AS1,SCN9Ac.3361C= (p.Arg1121=)
c.443C= (n.443C=)
c.3328C= (p.Arg1110=)
c.1986C=
n.833G=
c.2974C= (p.Arg992=)
c.2617C= (p.Arg873=)
2g.166251876G>TCA429902570SCN1A-AS1,SCN9Ac.3361C>A (p.Arg1121=)
c.443C>A (n.443C>A)
c.3328C>A (p.Arg1110=)
c.1986C>A
n.833G>T
c.2974C>A (p.Arg992=)
c.2617C>A (p.Arg873=)
2g.166251877G>ACA429902571SCN1A-AS1,SCN9Ac.3360C>T (p.Asn1120=)
c.442C>T (n.442C>T)
c.3327C>T (p.Asn1109=)
c.1985C>T
n.834G>A
c.2973C>T (p.Asn991=)
c.2616C>T (p.Asn872=)
 gnomAD v4
2g.166251877G>CCA349072156SCN1A-AS1,SCN9Ac.3360C>G (p.Asn1120Lys)
c.442C>G (n.442C>G)
c.3327C>G (p.Asn1109Lys)
c.1985C>G
n.834G>C
c.2973C>G (p.Asn991Lys)
c.2616C>G (p.Asn872Lys)
2g.166251877G>TCA349072158SCN1A-AS1,SCN9Ac.3360C>A (p.Asn1120Lys)
c.442C>A (n.442C>A)
c.3327C>A (p.Asn1109Lys)
c.1985C>A
n.834G>T
c.2973C>A (p.Asn991Lys)
c.2616C>A (p.Asn872Lys)
2g.166251878T>ACA349072160SCN1A-AS1,SCN9Ac.3359A>T (p.Asn1120Ile)
c.441A>T (n.441A>T)
c.3326A>T (p.Asn1109Ile)
c.1984A>T
n.835T>A
c.2972A>T (p.Asn991Ile)
c.2615A>T (p.Asn872Ile)
2g.166251878T>CCA349072161SCN1A-AS1,SCN9Ac.3359A>G (p.Asn1120Ser)
c.441A>G (n.441A>G)
c.3326A>G (p.Asn1109Ser)
c.1984A>G
n.835T>C
c.2972A>G (p.Asn991Ser)
c.2615A>G (p.Asn872Ser)
2g.166251878T>GCA349072162SCN1A-AS1,SCN9Ac.3359A>C (p.Asn1120Thr)
c.441A>C (n.441A>C)
c.3326A>C (p.Asn1109Thr)
c.1984A>C
n.835T>G
c.2972A>C (p.Asn991Thr)
c.2615A>C (p.Asn872Thr)
2g.166251879T>ACA349072166SCN1A-AS1,SCN9Ac.3358A>T (p.Asn1120Tyr)
c.440A>T (n.440A>T)
c.3325A>T (p.Asn1109Tyr)
c.1983A>T
n.836T>A
c.2971A>T (p.Asn991Tyr)
c.2614A>T (p.Asn872Tyr)
 COSMIC COSMIC
2g.166251879T>CCA349072164SCN1A-AS1,SCN9Ac.3358A>G (p.Asn1120Asp)
c.440A>G (n.440A>G)
c.3325A>G (p.Asn1109Asp)
c.1983A>G
n.836T>C
c.2971A>G (p.Asn991Asp)
c.2614A>G (p.Asn872Asp)
2g.166251879T>GCA349072163SCN1A-AS1,SCN9Ac.3358A>C (p.Asn1120His)
c.440A>C (n.440A>C)
c.3325A>C (p.Asn1109His)
c.1983A>C
n.836T>G
c.2971A>C (p.Asn991His)
c.2614A>C (p.Asn872His)
2g.166251880T>ACA349072167SCN1A-AS1,SCN9Ac.3357A>T (p.Leu1119Phe)
c.439A>T (n.439A>T)
c.3324A>T (p.Leu1108Phe)
c.1982A>T
n.837T>A
c.2970A>T (p.Leu990Phe)
c.2613A>T (p.Leu871Phe)
2g.166251880T>CCA429902573SCN1A-AS1,SCN9Ac.3357A>G (p.Leu1119=)
c.439A>G (n.439A>G)
c.3324A>G (p.Leu1108=)
c.1982A>G
n.837T>C
c.2970A>G (p.Leu990=)
c.2613A>G (p.Leu871=)
2g.166251880T>GCA349072169SCN1A-AS1,SCN9Ac.3357A>C (p.Leu1119Phe)
c.439A>C (n.439A>C)
c.3324A>C (p.Leu1108Phe)
c.1982A>C
n.837T>G
c.2970A>C (p.Leu990Phe)
c.2613A>C (p.Leu871Phe)
2g.166251881A>CCA349072170SCN1A-AS1,SCN9Ac.3356T>G (p.Leu1119Ter)
c.438T>G (n.438T>G)
c.3323T>G (p.Leu1108Ter)
c.1981T>G
n.838A>C
c.2969T>G (p.Leu990Ter)
c.2612T>G (p.Leu871Ter)
2g.166251881A>GCA349072171SCN1A-AS1,SCN9Ac.3356T>C (p.Leu1119Ser)
c.438T>C (n.438T>C)
c.3323T>C (p.Leu1108Ser)
c.1981T>C
n.838A>G
c.2969T>C (p.Leu990Ser)
c.2612T>C (p.Leu871Ser)
2g.166251881A>TCA349072172SCN1A-AS1,SCN9Ac.3356T>A (p.Leu1119Ter)
c.438T>A (n.438T>A)
c.3323T>A (p.Leu1108Ter)
c.1981T>A
n.838A>T
c.2969T>A (p.Leu990Ter)
c.2612T>A (p.Leu871Ter)
2g.166251882A>CCA349072173SCN1A-AS1,SCN9Ac.3355T>G (p.Leu1119Val)
c.437T>G (n.437T>G)
c.3322T>G (p.Leu1108Val)
c.1980T>G
n.839A>C
c.2968T>G (p.Leu990Val)
c.2611T>G (p.Leu871Val)
2g.166251882A>GCA429902576SCN1A-AS1,SCN9Ac.3355T>C (p.Leu1119=)
c.437T>C (n.437T>C)
c.3322T>C (p.Leu1108=)
c.1980T>C
n.839A>G
c.2968T>C (p.Leu990=)
c.2611T>C (p.Leu871=)
2g.166251882A>TCA349072174SCN1A-AS1,SCN9Ac.3355T>A (p.Leu1119Ile)
c.437T>A (n.437T>A)
c.3322T>A (p.Leu1108Ile)
c.1980T>A
n.839A>T
c.2968T>A (p.Leu990Ile)
c.2611T>A (p.Leu871Ile)
2g.166251883T>ACA349072177SCN1A-AS1,SCN9Ac.3354A>T (p.Arg1118Ser)
c.436A>T (n.436A>T)
c.3321A>T (p.Arg1107Ser)
c.1979A>T
n.840T>A
c.2967A>T (p.Arg989Ser)
c.2610A>T (p.Arg870Ser)
 gnomAD v4

Number of alleles fetched