Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166277145C>ACA429978281SCN1A-AS1,SCN9Ac.2712G>T (p.Thr904=)
c.2679G>T (p.Thr893=)
c.369G>T (p.Thr123=)
c.1714G>T
n.927C>A
c.2325G>T (p.Thr775=)
c.1968G>T (p.Thr656=)
n.3026G>T
 gnomAD v3 gnomAD v4
2g.166277145C=CA1304964986SCN1A-AS1,SCN9Ac.2712G= (p.Thr904=)
c.2679G= (p.Thr893=)
c.369G= (p.Thr123=)
c.1714G=
n.927C=
c.2325G= (p.Thr775=)
c.1968G= (p.Thr656=)
n.3026G=
2g.166277145C>GCA1944216SCN1A-AS1,SCN9Ac.2712G>C (p.Thr904=)
c.2679G>C (p.Thr893=)
c.369G>C (p.Thr123=)
c.1714G>C
n.927C>G
c.2325G>C (p.Thr775=)
c.1968G>C (p.Thr656=)
n.3026G>C
 ClinVar dbSNP ExAC gnomAD v2
2g.166277145C>TCA1944215SCN1A-AS1,SCN9Ac.2712G>A (p.Thr904=)
c.2679G>A (p.Thr893=)
c.369G>A (p.Thr123=)
c.1714G>A
n.927C>T
c.2325G>A (p.Thr775=)
c.1968G>A (p.Thr656=)
n.3026G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277146G>ACA1944217SCN1A-AS1,SCN9Ac.2711C>T (p.Thr904Met)
c.2678C>T (p.Thr893Met)
c.368C>T (p.Thr123Met)
c.1713C>T
n.928G>A
c.2324C>T (p.Thr775Met)
c.1967C>T (p.Thr656Met)
n.3025C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277146G>CCA349077736SCN1A-AS1,SCN9Ac.2711C>G (p.Thr904Arg)
c.2678C>G (p.Thr893Arg)
c.368C>G (p.Thr123Arg)
c.1713C>G
n.928G>C
c.2324C>G (p.Thr775Arg)
c.1967C>G (p.Thr656Arg)
n.3025C>G
 dbSNP gnomAD v3 gnomAD v4
2g.166277146G=CA1304964995SCN1A-AS1,SCN9Ac.2711C= (p.Thr904=)
c.2678C= (p.Thr893=)
c.368C= (p.Thr123=)
c.1713C=
n.928G=
c.2324C= (p.Thr775=)
c.1967C= (p.Thr656=)
n.3025C=
2g.166277146G>TCA349077737SCN1A-AS1,SCN9Ac.2711C>A (p.Thr904Lys)
c.2678C>A (p.Thr893Lys)
c.368C>A (p.Thr123Lys)
c.1713C>A
n.928G>T
c.2324C>A (p.Thr775Lys)
c.1967C>A (p.Thr656Lys)
n.3025C>A
2g.166277147T>ACA349077738SCN1A-AS1,SCN9Ac.2710A>T (p.Thr904Ser)
c.2677A>T (p.Thr893Ser)
c.367A>T (p.Thr123Ser)
c.1712A>T
n.929T>A
c.2323A>T (p.Thr775Ser)
c.1966A>T (p.Thr656Ser)
n.3024A>T
2g.166277147T>CCA349077739SCN1A-AS1,SCN9Ac.2710A>G (p.Thr904Ala)
c.2677A>G (p.Thr893Ala)
c.367A>G (p.Thr123Ala)
c.1712A>G
n.929T>C
c.2323A>G (p.Thr775Ala)
c.1966A>G (p.Thr656Ala)
n.3024A>G
2g.166277147T>GCA349077740SCN1A-AS1,SCN9Ac.2710A>C (p.Thr904Pro)
c.2677A>C (p.Thr893Pro)
c.367A>C (p.Thr123Pro)
c.1712A>C
n.929T>G
c.2323A>C (p.Thr775Pro)
c.1966A>C (p.Thr656Pro)
n.3024A>C
2g.166277147_166277148delinsTACA1304965007SCN1A-AS1,SCN9Ac.2709_2710delinsTA (p.Cys903=)
c.2676_2677delinsTA (p.Cys892=)
c.366_367delinsTA (p.Cys122=)
c.1711_1712delinsTA
n.929_930delinsTA
c.2322_2323delinsTA (p.Cys774=)
c.1965_1966delinsTA (p.Cys655=)
n.3023_3024delinsTA
2g.166277148delCA1139657336SCN1A-AS1,SCN9Ac.2709del (p.Cys903Ter)
c.2676del (p.Cys892Ter)
c.366del (p.Cys122Ter)
c.1711del
n.930del
c.2322del (p.Cys774Ter)
c.1965del (p.Cys655Ter)
n.3023del
 ClinVar dbSNP gnomAD v4
2g.166277148A>CCA349077741SCN1A-AS1,SCN9Ac.2709T>G (p.Cys903Trp)
c.2676T>G (p.Cys892Trp)
c.366T>G (p.Cys122Trp)
c.1711T>G
n.930A>C
c.2322T>G (p.Cys774Trp)
c.1965T>G (p.Cys655Trp)
n.3023T>G
2g.166277148A>GCA429978288SCN1A-AS1,SCN9Ac.2709T>C (p.Cys903=)
c.2676T>C (p.Cys892=)
c.366T>C (p.Cys122=)
c.1711T>C
n.930A>G
c.2322T>C (p.Cys774=)
c.1965T>C (p.Cys655=)
n.3023T>C
2g.166277148A>TCA349077742SCN1A-AS1,SCN9Ac.2709T>A (p.Cys903Ter)
c.2676T>A (p.Cys892Ter)
c.366T>A (p.Cys122Ter)
c.1711T>A
n.930A>T
c.2322T>A (p.Cys774Ter)
c.1965T>A (p.Cys655Ter)
n.3023T>A
2g.166277149C>ACA349077743SCN1A-AS1,SCN9Ac.2708G>T (p.Cys903Phe)
c.2675G>T (p.Cys892Phe)
c.365G>T (p.Cys122Phe)
c.1710G>T
n.931C>A
c.2321G>T (p.Cys774Phe)
c.1964G>T (p.Cys655Phe)
n.3022G>T
2g.166277149C>GCA349077744SCN1A-AS1,SCN9Ac.2708G>C (p.Cys903Ser)
c.2675G>C (p.Cys892Ser)
c.365G>C (p.Cys122Ser)
c.1710G>C
n.931C>G
c.2321G>C (p.Cys774Ser)
c.1964G>C (p.Cys655Ser)
n.3022G>C
2g.166277149C>TCA349077745SCN1A-AS1,SCN9Ac.2708G>A (p.Cys903Tyr)
c.2675G>A (p.Cys892Tyr)
c.365G>A (p.Cys122Tyr)
c.1710G>A
n.931C>T
c.2321G>A (p.Cys774Tyr)
c.1964G>A (p.Cys655Tyr)
n.3022G>A
2g.166277150A=CA1304965015SCN1A-AS1,SCN9Ac.2707T= (p.Cys903=)
c.2674T= (p.Cys892=)
c.364T= (p.Cys122=)
c.1709T=
n.932A=
c.2320T= (p.Cys774=)
c.1963T= (p.Cys655=)
n.3021T=
2g.166277150A>CCA349077748SCN1A-AS1,SCN9Ac.2707T>G (p.Cys903Gly)
c.2674T>G (p.Cys892Gly)
c.364T>G (p.Cys122Gly)
c.1709T>G
n.932A>C
c.2320T>G (p.Cys774Gly)
c.1963T>G (p.Cys655Gly)
n.3021T>G
 dbSNP
2g.166277150A>GCA349077746SCN1A-AS1,SCN9Ac.2707T>C (p.Cys903Arg)
c.2674T>C (p.Cys892Arg)
c.364T>C (p.Cys122Arg)
c.1709T>C
n.932A>G
c.2320T>C (p.Cys774Arg)
c.1963T>C (p.Cys655Arg)
n.3021T>C
 gnomAD v4
2g.166277150A>TCA349077747SCN1A-AS1,SCN9Ac.2707T>A (p.Cys903Ser)
c.2674T>A (p.Cys892Ser)
c.364T>A (p.Cys122Ser)
c.1709T>A
n.932A>T
c.2320T>A (p.Cys774Ser)
c.1963T>A (p.Cys655Ser)
n.3021T>A
2g.166277151G>ACA429978291SCN1A-AS1,SCN9Ac.2706C>T (p.Asp902=)
c.2673C>T (p.Asp891=)
c.363C>T (p.Asp121=)
c.1708C>T
n.933G>A
c.2319C>T (p.Asp773=)
c.1962C>T (p.Asp654=)
n.3020C>T
2g.166277151G>CCA349077749SCN1A-AS1,SCN9Ac.2706C>G (p.Asp902Glu)
c.2673C>G (p.Asp891Glu)
c.363C>G (p.Asp121Glu)
c.1708C>G
n.933G>C
c.2319C>G (p.Asp773Glu)
c.1962C>G (p.Asp654Glu)
n.3020C>G
2g.166277151G>TCA349077750SCN1A-AS1,SCN9Ac.2706C>A (p.Asp902Glu)
c.2673C>A (p.Asp891Glu)
c.363C>A (p.Asp121Glu)
c.1708C>A
n.933G>T
c.2319C>A (p.Asp773Glu)
c.1962C>A (p.Asp654Glu)
n.3020C>A
 gnomAD v4
2g.166277152T>ACA349077751SCN1A-AS1,SCN9Ac.2705A>T (p.Asp902Val)
c.2672A>T (p.Asp891Val)
c.362A>T (p.Asp121Val)
c.1707A>T
n.934T>A
c.2318A>T (p.Asp773Val)
c.1961A>T (p.Asp654Val)
n.3019A>T
2g.166277152T>CCA349077752SCN1A-AS1,SCN9Ac.2705A>G (p.Asp902Gly)
c.2672A>G (p.Asp891Gly)
c.362A>G (p.Asp121Gly)
c.1707A>G
n.934T>C
c.2318A>G (p.Asp773Gly)
c.1961A>G (p.Asp654Gly)
n.3019A>G
 gnomAD v4
2g.166277152T>GCA349077753SCN1A-AS1,SCN9Ac.2705A>C (p.Asp902Ala)
c.2672A>C (p.Asp891Ala)
c.362A>C (p.Asp121Ala)
c.1707A>C
n.934T>G
c.2318A>C (p.Asp773Ala)
c.1961A>C (p.Asp654Ala)
n.3019A>C
2g.166277156_166277158delCA2661767151SCN1A-AS1,SCN9Ac.2703_2705del (p.Asp902del)
c.2670_2672del (p.Asp891del)
c.360_362del (p.Asp121del)
c.1705_1707del
n.938_940del
c.2316_2318del (p.Asp773del)
c.1959_1961del (p.Asp654del)
n.3017_3019del
 gnomAD v4
2g.166277153C>ACA349077754SCN1A-AS1,SCN9Ac.2704G>T (p.Asp902Tyr)
c.2671G>T (p.Asp891Tyr)
c.361G>T (p.Asp121Tyr)
c.1706G>T
n.935C>A
c.2317G>T (p.Asp773Tyr)
c.1960G>T (p.Asp654Tyr)
n.3018G>T
 COSMIC COSMIC
2g.166277153C=CA1304965022SCN1A-AS1,SCN9Ac.2704G= (p.Asp902=)
c.2671G= (p.Asp891=)
c.361G= (p.Asp121=)
c.1706G=
n.935C=
c.2317G= (p.Asp773=)
c.1960G= (p.Asp654=)
n.3018G=
2g.166277153C>GCA349077755SCN1A-AS1,SCN9Ac.2704G>C (p.Asp902His)
c.2671G>C (p.Asp891His)
c.361G>C (p.Asp121His)
c.1706G>C
n.935C>G
c.2317G>C (p.Asp773His)
c.1960G>C (p.Asp654His)
n.3018G>C
2g.166277153C>TCA349077756SCN1A-AS1,SCN9Ac.2704G>A (p.Asp902Asn)
c.2671G>A (p.Asp891Asn)
c.361G>A (p.Asp121Asn)
c.1706G>A
n.935C>T
c.2317G>A (p.Asp773Asn)
c.1960G>A (p.Asp654Asn)
n.3018G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277154A>CCA349077757SCN1A-AS1,SCN9Ac.2703T>G (p.Asp901Glu)
c.2670T>G (p.Asp890Glu)
c.360T>G (p.Asp120Glu)
c.1705T>G
n.936A>C
c.2316T>G (p.Asp772Glu)
c.1959T>G (p.Asp653Glu)
n.3017T>G
2g.166277154A>GCA429978297SCN1A-AS1,SCN9Ac.2703T>C (p.Asp901=)
c.2670T>C (p.Asp890=)
c.360T>C (p.Asp120=)
c.1705T>C
n.936A>G
c.2316T>C (p.Asp772=)
c.1959T>C (p.Asp653=)
n.3017T>C
2g.166277154A>TCA349077758SCN1A-AS1,SCN9Ac.2703T>A (p.Asp901Glu)
c.2670T>A (p.Asp890Glu)
c.360T>A (p.Asp120Glu)
c.1705T>A
n.936A>T
c.2316T>A (p.Asp772Glu)
c.1959T>A (p.Asp653Glu)
n.3017T>A
2g.166277155T>ACA349077759SCN1A-AS1,SCN9Ac.2702A>T (p.Asp901Val)
c.2669A>T (p.Asp890Val)
c.359A>T (p.Asp120Val)
c.1704A>T
n.937T>A
c.2315A>T (p.Asp772Val)
c.1958A>T (p.Asp653Val)
n.3016A>T
2g.166277155T>CCA349077760SCN1A-AS1,SCN9Ac.2702A>G (p.Asp901Gly)
c.2669A>G (p.Asp890Gly)
c.359A>G (p.Asp120Gly)
c.1704A>G
n.937T>C
c.2315A>G (p.Asp772Gly)
c.1958A>G (p.Asp653Gly)
n.3016A>G
 ClinVar
2g.166277155T>GCA349077761SCN1A-AS1,SCN9Ac.2702A>C (p.Asp901Ala)
c.2669A>C (p.Asp890Ala)
c.359A>C (p.Asp120Ala)
c.1704A>C
n.937T>G
c.2315A>C (p.Asp772Ala)
c.1958A>C (p.Asp653Ala)
n.3016A>C
2g.166277156C>ACA349077763SCN1A-AS1,SCN9Ac.2701G>T (p.Asp901Tyr)
c.2668G>T (p.Asp890Tyr)
c.358G>T (p.Asp120Tyr)
c.1703G>T
n.938C>A
c.2314G>T (p.Asp772Tyr)
c.1957G>T (p.Asp653Tyr)
n.3015G>T
2g.166277156C=CA1304965025SCN1A-AS1,SCN9Ac.2701G= (p.Asp901=)
c.2668G= (p.Asp890=)
c.358G= (p.Asp120=)
c.1703G=
n.938C=
c.2314G= (p.Asp772=)
c.1957G= (p.Asp653=)
n.3015G=
2g.166277156C>GCA349077764SCN1A-AS1,SCN9Ac.2701G>C (p.Asp901His)
c.2668G>C (p.Asp890His)
c.358G>C (p.Asp120His)
c.1703G>C
n.938C>G
c.2314G>C (p.Asp772His)
c.1957G>C (p.Asp653His)
n.3015G>C
2g.166277156C>TCA349077762SCN1A-AS1,SCN9Ac.2701G>A (p.Asp901Asn)
c.2668G>A (p.Asp890Asn)
c.358G>A (p.Asp120Asn)
c.1703G>A
n.938C>T
c.2314G>A (p.Asp772Asn)
c.1957G>A (p.Asp653Asn)
n.3015G>A
 dbSNP COSMIC COSMIC
2g.166277157A=CA1304965031SCN1A-AS1,SCN9Ac.2700T= (p.Asn900=)
c.2667T= (p.Asn889=)
c.357T= (p.Asn119=)
c.1702T=
n.939A=
c.2313T= (p.Asn771=)
c.1956T= (p.Asn652=)
n.3014T=
2g.166277157A>CCA349077765SCN1A-AS1,SCN9Ac.2700T>G (p.Asn900Lys)
c.2667T>G (p.Asn889Lys)
c.357T>G (p.Asn119Lys)
c.1702T>G
n.939A>C
c.2313T>G (p.Asn771Lys)
c.1956T>G (p.Asn652Lys)
n.3014T>G
2g.166277157A>GCA1944218SCN1A-AS1,SCN9Ac.2700T>C (p.Asn900=)
c.2667T>C (p.Asn889=)
c.357T>C (p.Asn119=)
c.1702T>C
n.939A>G
c.2313T>C (p.Asn771=)
c.1956T>C (p.Asn652=)
n.3014T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277157A>TCA349077766SCN1A-AS1,SCN9Ac.2700T>A (p.Asn900Lys)
c.2667T>A (p.Asn889Lys)
c.357T>A (p.Asn119Lys)
c.1702T>A
n.939A>T
c.2313T>A (p.Asn771Lys)
c.1956T>A (p.Asn652Lys)
n.3014T>A
2g.166277158T>ACA349077767SCN1A-AS1,SCN9Ac.2699A>T (p.Asn900Ile)
c.2666A>T (p.Asn889Ile)
c.356A>T (p.Asn119Ile)
c.1701A>T
n.940T>A
c.2312A>T (p.Asn771Ile)
c.1955A>T (p.Asn652Ile)
n.3013A>T
2g.166277158T>CCA349077768SCN1A-AS1,SCN9Ac.2699A>G (p.Asn900Ser)
c.2666A>G (p.Asn889Ser)
c.356A>G (p.Asn119Ser)
c.1701A>G
n.940T>C
c.2312A>G (p.Asn771Ser)
c.1955A>G (p.Asn652Ser)
n.3013A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched