Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166277137C>ACA349077722SCN1A-AS1,SCN9Ac.2720G>T (p.Arg907Leu)
c.2687G>T (p.Arg896Leu)
c.377G>T (p.Arg126Leu)
c.1722G>T
n.919C>A
c.2333G>T (p.Arg778Leu)
c.1976G>T (p.Arg659Leu)
n.3034G>T
2g.166277137C=CA1304964965SCN1A-AS1,SCN9Ac.2720G= (p.Arg907=)
c.2687G= (p.Arg896=)
c.377G= (p.Arg126=)
c.1722G=
n.919C=
c.2333G= (p.Arg778=)
c.1976G= (p.Arg659=)
n.3034G=
2g.166277137C>GCA349077721SCN1A-AS1,SCN9Ac.2720G>C (p.Arg907Pro)
c.2687G>C (p.Arg896Pro)
c.377G>C (p.Arg126Pro)
c.1722G>C
n.919C>G
c.2333G>C (p.Arg778Pro)
c.1976G>C (p.Arg659Pro)
n.3034G>C
2g.166277137C>TCA59794605SCN1A-AS1,SCN9Ac.2720G>A (p.Arg907Gln)
c.2687G>A (p.Arg896Gln)
c.377G>A (p.Arg126Gln)
c.1722G>A
n.919C>T
c.2333G>A (p.Arg778Gln)
c.1976G>A (p.Arg659Gln)
n.3034G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277138G>ACA1944214SCN1A-AS1,SCN9Ac.2719C>T (p.Arg907Trp)
c.2686C>T (p.Arg896Trp)
c.376C>T (p.Arg126Trp)
c.1721C>T
n.920G>A
c.2332C>T (p.Arg778Trp)
c.1975C>T (p.Arg659Trp)
n.3033C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277138G>CCA349077723SCN1A-AS1,SCN9Ac.2719C>G (p.Arg907Gly)
c.2686C>G (p.Arg896Gly)
c.376C>G (p.Arg126Gly)
c.1721C>G
n.920G>C
c.2332C>G (p.Arg778Gly)
c.1975C>G (p.Arg659Gly)
n.3033C>G
2g.166277138G=CA1304964971SCN1A-AS1,SCN9Ac.2719C= (p.Arg907=)
c.2686C= (p.Arg896=)
c.376C= (p.Arg126=)
c.1721C=
n.920G=
c.2332C= (p.Arg778=)
c.1975C= (p.Arg659=)
n.3033C=
2g.166277138G>TCA429978270SCN1A-AS1,SCN9Ac.2719C>A (p.Arg907=)
c.2686C>A (p.Arg896=)
c.376C>A (p.Arg126=)
c.1721C>A
n.920G>T
c.2332C>A (p.Arg778=)
c.1975C>A (p.Arg659=)
n.3033C>A
2g.166277139T>ACA429978272SCN1A-AS1,SCN9Ac.2718A>T (p.Pro906=)
c.2685A>T (p.Pro895=)
c.375A>T (p.Pro125=)
c.1720A>T
n.921T>A
c.2331A>T (p.Pro777=)
c.1974A>T (p.Pro658=)
n.3032A>T
2g.166277139T>CCA429978274SCN1A-AS1,SCN9Ac.2718A>G (p.Pro906=)
c.2685A>G (p.Pro895=)
c.375A>G (p.Pro125=)
c.1720A>G
n.921T>C
c.2331A>G (p.Pro777=)
c.1974A>G (p.Pro658=)
n.3032A>G
ClinVar dbSNP
2g.166277139T>GCA429978275SCN1A-AS1,SCN9Ac.2718A>C (p.Pro906=)
c.2685A>C (p.Pro895=)
c.375A>C (p.Pro125=)
c.1720A>C
n.921T>G
c.2331A>C (p.Pro777=)
c.1974A>C (p.Pro658=)
n.3032A>C
2g.166277140G>ACA349077724SCN1A-AS1,SCN9Ac.2717C>T (p.Pro906Leu)
c.2684C>T (p.Pro895Leu)
c.374C>T (p.Pro125Leu)
c.1719C>T
n.922G>A
c.2330C>T (p.Pro777Leu)
c.1973C>T (p.Pro658Leu)
n.3031C>T
2g.166277140G>CCA349077725SCN1A-AS1,SCN9Ac.2717C>G (p.Pro906Arg)
c.2684C>G (p.Pro895Arg)
c.374C>G (p.Pro125Arg)
c.1719C>G
n.922G>C
c.2330C>G (p.Pro777Arg)
c.1973C>G (p.Pro658Arg)
n.3031C>G
2g.166277140G>TCA349077726SCN1A-AS1,SCN9Ac.2717C>A (p.Pro906Gln)
c.2684C>A (p.Pro895Gln)
c.374C>A (p.Pro125Gln)
c.1719C>A
n.922G>T
c.2330C>A (p.Pro777Gln)
c.1973C>A (p.Pro658Gln)
n.3031C>A
2g.166277141G>ACA349077727SCN1A-AS1,SCN9Ac.2716C>T (p.Pro906Ser)
c.2683C>T (p.Pro895Ser)
c.373C>T (p.Pro125Ser)
c.1718C>T
n.923G>A
c.2329C>T (p.Pro777Ser)
c.1972C>T (p.Pro658Ser)
n.3030C>T
dbSNP
2g.166277141G>CCA349077728SCN1A-AS1,SCN9Ac.2716C>G (p.Pro906Ala)
c.2683C>G (p.Pro895Ala)
c.373C>G (p.Pro125Ala)
c.1718C>G
n.923G>C
c.2329C>G (p.Pro777Ala)
c.1972C>G (p.Pro658Ala)
n.3030C>G
2g.166277141G=CA1304964979SCN1A-AS1,SCN9Ac.2716C= (p.Pro906=)
c.2683C= (p.Pro895=)
c.373C= (p.Pro125=)
c.1718C=
n.923G=
c.2329C= (p.Pro777=)
c.1972C= (p.Pro658=)
n.3030C=
2g.166277141G>TCA349077729SCN1A-AS1,SCN9Ac.2716C>A (p.Pro906Thr)
c.2683C>A (p.Pro895Thr)
c.373C>A (p.Pro125Thr)
c.1718C>A
n.923G>T
c.2329C>A (p.Pro777Thr)
c.1972C>A (p.Pro658Thr)
n.3030C>A
2g.166277142G>ACA429978276SCN1A-AS1,SCN9Ac.2715C>T (p.Leu905=)
c.2682C>T (p.Leu894=)
c.372C>T (p.Leu124=)
c.1717C>T
n.924G>A
c.2328C>T (p.Leu776=)
c.1971C>T (p.Leu657=)
n.3029C>T
2g.166277142G>CCA429978279SCN1A-AS1,SCN9Ac.2715C>G (p.Leu905=)
c.2682C>G (p.Leu894=)
c.372C>G (p.Leu124=)
c.1717C>G
n.924G>C
c.2328C>G (p.Leu776=)
c.1971C>G (p.Leu657=)
n.3029C>G
2g.166277142G>TCA429978278SCN1A-AS1,SCN9Ac.2715C>A (p.Leu905=)
c.2682C>A (p.Leu894=)
c.372C>A (p.Leu124=)
c.1717C>A
n.924G>T
c.2328C>A (p.Leu776=)
c.1971C>A (p.Leu657=)
n.3029C>A
2g.166277143A=CA1304964982SCN1A-AS1,SCN9Ac.2714T= (p.Leu905=)
c.2681T= (p.Leu894=)
c.371T= (p.Leu124=)
c.1716T=
n.925A=
c.2327T= (p.Leu776=)
c.1970T= (p.Leu657=)
n.3028T=
2g.166277143A>CCA349077730SCN1A-AS1,SCN9Ac.2714T>G (p.Leu905Arg)
c.2681T>G (p.Leu894Arg)
c.371T>G (p.Leu124Arg)
c.1716T>G
n.925A>C
c.2327T>G (p.Leu776Arg)
c.1970T>G (p.Leu657Arg)
n.3028T>G
2g.166277143A>GCA349077731SCN1A-AS1,SCN9Ac.2714T>C (p.Leu905Pro)
c.2681T>C (p.Leu894Pro)
c.371T>C (p.Leu124Pro)
c.1716T>C
n.925A>G
c.2327T>C (p.Leu776Pro)
c.1970T>C (p.Leu657Pro)
n.3028T>C
dbSNP gnomAD v3 gnomAD v4
2g.166277143A>TCA349077732SCN1A-AS1,SCN9Ac.2714T>A (p.Leu905His)
c.2681T>A (p.Leu894His)
c.371T>A (p.Leu124His)
c.1716T>A
n.925A>T
c.2327T>A (p.Leu776His)
c.1970T>A (p.Leu657His)
n.3028T>A
2g.166277144G>ACA349077735SCN1A-AS1,SCN9Ac.2713C>T (p.Leu905Phe)
c.2680C>T (p.Leu894Phe)
c.370C>T (p.Leu124Phe)
c.1715C>T
n.926G>A
c.2326C>T (p.Leu776Phe)
c.1969C>T (p.Leu657Phe)
n.3027C>T
gnomAD v4
2g.166277144G>CCA349077734SCN1A-AS1,SCN9Ac.2713C>G (p.Leu905Val)
c.2680C>G (p.Leu894Val)
c.370C>G (p.Leu124Val)
c.1715C>G
n.926G>C
c.2326C>G (p.Leu776Val)
c.1969C>G (p.Leu657Val)
n.3027C>G
2g.166277144G>TCA349077733SCN1A-AS1,SCN9Ac.2713C>A (p.Leu905Ile)
c.2680C>A (p.Leu894Ile)
c.370C>A (p.Leu124Ile)
c.1715C>A
n.926G>T
c.2326C>A (p.Leu776Ile)
c.1969C>A (p.Leu657Ile)
n.3027C>A
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
2g.166277158T>GCA349077769SCN1A-AS1,SCN9Ac.2699A>C (p.Asn900Thr)
c.2666A>C (p.Asn889Thr)
c.356A>C (p.Asn119Thr)
c.1701A>C
n.940T>G
c.2312A>C (p.Asn771Thr)
c.1955A>C (p.Asn652Thr)
n.3013A>C
dbSNP gnomAD v3 gnomAD v4
2g.166277158T=CA1304965034SCN1A-AS1,SCN9Ac.2699A= (p.Asn900=)
c.2666A= (p.Asn889=)
c.356A= (p.Asn119=)
c.1701A=
n.940T=
c.2312A= (p.Asn771=)
c.1955A= (p.Asn652=)
n.3013A=
2g.166277159T>ACA349077770SCN1A-AS1,SCN9Ac.2698A>T (p.Asn900Tyr)
c.2665A>T (p.Asn889Tyr)
c.355A>T (p.Asn119Tyr)
c.1700A>T
n.941T>A
c.2311A>T (p.Asn771Tyr)
c.1954A>T (p.Asn652Tyr)
n.3012A>T
2g.166277159T>CCA349077771SCN1A-AS1,SCN9Ac.2698A>G (p.Asn900Asp)
c.2665A>G (p.Asn889Asp)
c.355A>G (p.Asn119Asp)
c.1700A>G
n.941T>C
c.2311A>G (p.Asn771Asp)
c.1954A>G (p.Asn652Asp)
n.3012A>G
2g.166277159T>GCA349077772SCN1A-AS1,SCN9Ac.2698A>C (p.Asn900His)
c.2665A>C (p.Asn889His)
c.355A>C (p.Asn119His)
c.1700A>C
n.941T>G
c.2311A>C (p.Asn771His)
c.1954A>C (p.Asn652His)
n.3012A>C
ClinVar dbSNP
2g.166277159T=CA1304965042SCN1A-AS1,SCN9Ac.2698A= (p.Asn900=)
c.2665A= (p.Asn889=)
c.355A= (p.Asn119=)
c.1700A=
n.941T=
c.2311A= (p.Asn771=)
c.1954A= (p.Asn652=)
n.3012A=
2g.166277160G>ACA429978304SCN1A-AS1,SCN9Ac.2697C>T (p.Ile899=)
c.2664C>T (p.Ile888=)
c.354C>T (p.Ile118=)
c.1699C>T
n.942G>A
c.2310C>T (p.Ile770=)
c.1953C>T (p.Ile651=)
n.3011C>T
2g.166277160G>CCA349077773SCN1A-AS1,SCN9Ac.2697C>G (p.Ile899Met)
c.2664C>G (p.Ile888Met)
c.354C>G (p.Ile118Met)
c.1699C>G
n.942G>C
c.2310C>G (p.Ile770Met)
c.1953C>G (p.Ile651Met)
n.3011C>G
2g.166277160G>TCA429978307SCN1A-AS1,SCN9Ac.2697C>A (p.Ile899=)
c.2664C>A (p.Ile888=)
c.354C>A (p.Ile118=)
c.1699C>A
n.942G>T
c.2310C>A (p.Ile770=)
c.1953C>A (p.Ile651=)
n.3011C>A
2g.166277161A>CCA349077776SCN1A-AS1,SCN9Ac.2696T>G (p.Ile899Ser)
c.2663T>G (p.Ile888Ser)
c.353T>G (p.Ile118Ser)
c.1698T>G
n.943A>C
c.2309T>G (p.Ile770Ser)
c.1952T>G (p.Ile651Ser)
n.3010T>G
2g.166277161A>GCA349077774SCN1A-AS1,SCN9Ac.2696T>C (p.Ile899Thr)
c.2663T>C (p.Ile888Thr)
c.353T>C (p.Ile118Thr)
c.1698T>C
n.943A>G
c.2309T>C (p.Ile770Thr)
c.1952T>C (p.Ile651Thr)
n.3010T>C
2g.166277161A>TCA349077775SCN1A-AS1,SCN9Ac.2696T>A (p.Ile899Asn)
c.2663T>A (p.Ile888Asn)
c.353T>A (p.Ile118Asn)
c.1698T>A
n.943A>T
c.2309T>A (p.Ile770Asn)
c.1952T>A (p.Ile651Asn)
n.3010T>A
2g.166277162T>ACA59794630SCN1A-AS1,SCN9Ac.2695A>T (p.Ile899Phe)
c.2662A>T (p.Ile888Phe)
c.352A>T (p.Ile118Phe)
c.1697A>T
n.944T>A
c.2308A>T (p.Ile770Phe)
c.1951A>T (p.Ile651Phe)
n.3009A>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277162T>CCA349077777SCN1A-AS1,SCN9Ac.2695A>G (p.Ile899Val)
c.2662A>G (p.Ile888Val)
c.352A>G (p.Ile118Val)
c.1697A>G
n.944T>C
c.2308A>G (p.Ile770Val)
c.1951A>G (p.Ile651Val)
n.3009A>G
2g.166277162T>GCA349077778SCN1A-AS1,SCN9Ac.2695A>C (p.Ile899Leu)
c.2662A>C (p.Ile888Leu)
c.352A>C (p.Ile118Leu)
c.1697A>C
n.944T>G
c.2308A>C (p.Ile770Leu)
c.1951A>C (p.Ile651Leu)
n.3009A>C
2g.166277162T=CA1304965052SCN1A-AS1,SCN9Ac.2695A= (p.Ile899=)
c.2662A= (p.Ile888=)
c.352A= (p.Ile118=)
c.1697A=
n.944T=
c.2308A= (p.Ile770=)
c.1951A= (p.Ile651=)
n.3009A=
2g.166277163C>ACA349077779SCN1A-AS1,SCN9Ac.2694G>T (p.Lys898Asn)
c.2661G>T (p.Lys887Asn)
c.351G>T (p.Lys117Asn)
c.1696G>T
n.945C>A
c.2307G>T (p.Lys769Asn)
c.1950G>T (p.Lys650Asn)
n.3008G>T
2g.166277163C>GCA349077780SCN1A-AS1,SCN9Ac.2694G>C (p.Lys898Asn)
c.2661G>C (p.Lys887Asn)
c.351G>C (p.Lys117Asn)
c.1696G>C
n.945C>G
c.2307G>C (p.Lys769Asn)
c.1950G>C (p.Lys650Asn)
n.3008G>C
2g.166277163C>TCA429978310SCN1A-AS1,SCN9Ac.2694G>A (p.Lys898=)
c.2661G>A (p.Lys887=)
c.351G>A (p.Lys117=)
c.1696G>A
n.945C>T
c.2307G>A (p.Lys769=)
c.1950G>A (p.Lys650=)
n.3008G>A
2g.166277164T>ACA349077781SCN1A-AS1,SCN9Ac.2693A>T (p.Lys898Met)
c.2660A>T (p.Lys887Met)
c.350A>T (p.Lys117Met)
c.1695A>T
n.946T>A
c.2306A>T (p.Lys769Met)
c.1949A>T (p.Lys650Met)
n.3007A>T
2g.166277164T>CCA349077783SCN1A-AS1,SCN9Ac.2693A>G (p.Lys898Arg)
c.2660A>G (p.Lys887Arg)
c.350A>G (p.Lys117Arg)
c.1695A>G
n.946T>C
c.2306A>G (p.Lys769Arg)
c.1949A>G (p.Lys650Arg)
n.3007A>G
ClinVar dbSNP
2g.166277164T>GCA349077782SCN1A-AS1,SCN9Ac.2693A>C (p.Lys898Thr)
c.2660A>C (p.Lys887Thr)
c.350A>C (p.Lys117Thr)
c.1695A>C
n.946T>G
c.2306A>C (p.Lys769Thr)
c.1949A>C (p.Lys650Thr)
n.3007A>C
2g.166277165T>ACA349077784SCN1A-AS1,SCN9Ac.2692A>T (p.Lys898Ter)
c.2659A>T (p.Lys887Ter)
c.349A>T (p.Lys117Ter)
c.1694A>T
n.947T>A
c.2305A>T (p.Lys769Ter)
c.1948A>T (p.Lys650Ter)
n.3006A>T
2g.166277165T>CCA349077785SCN1A-AS1,SCN9Ac.2692A>G (p.Lys898Glu)
c.2659A>G (p.Lys887Glu)
c.349A>G (p.Lys117Glu)
c.1694A>G
n.947T>C
c.2305A>G (p.Lys769Glu)
c.1948A>G (p.Lys650Glu)
n.3006A>G
2g.166277165T>GCA349077786SCN1A-AS1,SCN9Ac.2692A>C (p.Lys898Gln)
c.2659A>C (p.Lys887Gln)
c.349A>C (p.Lys117Gln)
c.1694A>C
n.947T>G
c.2305A>C (p.Lys769Gln)
c.1948A>C (p.Lys650Gln)
n.3006A>C
2g.166277166G>ACA16610178SCN1A-AS1,SCN9Ac.2691C>T (p.Cys897=)
c.2658C>T (p.Cys886=)
c.348C>T (p.Cys116=)
c.1693C>T
n.948G>A
c.2304C>T (p.Cys768=)
c.1947C>T (p.Cys649=)
n.3005C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166277166G>CCA349077787SCN1A-AS1,SCN9Ac.2691C>G (p.Cys897Trp)
c.2658C>G (p.Cys886Trp)
c.348C>G (p.Cys116Trp)
c.1693C>G
n.948G>C
c.2304C>G (p.Cys768Trp)
c.1947C>G (p.Cys649Trp)
n.3005C>G
2g.166277166G=CA1304965057SCN1A-AS1,SCN9Ac.2691C= (p.Cys897=)
c.2658C= (p.Cys886=)
c.348C= (p.Cys116=)
c.1693C=
n.948G=
c.2304C= (p.Cys768=)
c.1947C= (p.Cys649=)
n.3005C=
2g.166277166G>TCA349077788SCN1A-AS1,SCN9Ac.2691C>A (p.Cys897Ter)
c.2658C>A (p.Cys886Ter)
c.348C>A (p.Cys116Ter)
c.1693C>A
n.948G>T
c.2304C>A (p.Cys768Ter)
c.1947C>A (p.Cys649Ter)
n.3005C>A
2g.166277167C>ACA349077789SCN1A-AS1,SCN9Ac.2690G>T (p.Cys897Phe)
c.2657G>T (p.Cys886Phe)
c.347G>T (p.Cys116Phe)
c.1692G>T
n.949C>A
c.2303G>T (p.Cys768Phe)
c.1946G>T (p.Cys649Phe)
n.3004G>T
gnomAD v4
2g.166277167C>GCA349077790SCN1A-AS1,SCN9Ac.2690G>C (p.Cys897Ser)
c.2657G>C (p.Cys886Ser)
c.347G>C (p.Cys116Ser)
c.1692G>C
n.949C>G
c.2303G>C (p.Cys768Ser)
c.1946G>C (p.Cys649Ser)
n.3004G>C
2g.166277167C>TCA349077791SCN1A-AS1,SCN9Ac.2690G>A (p.Cys897Tyr)
c.2657G>A (p.Cys886Tyr)
c.347G>A (p.Cys116Tyr)
c.1692G>A
n.949C>T
c.2303G>A (p.Cys768Tyr)
c.1946G>A (p.Cys649Tyr)
n.3004G>A
COSMIC COSMIC
2g.166277168A>CCA349077792SCN1A-AS1,SCN9Ac.2689T>G (p.Cys897Gly)
c.2656T>G (p.Cys886Gly)
c.346T>G (p.Cys116Gly)
c.1691T>G
n.950A>C
c.2302T>G (p.Cys768Gly)
c.1945T>G (p.Cys649Gly)
n.3003T>G
2g.166277168A>GCA349077793SCN1A-AS1,SCN9Ac.2689T>C (p.Cys897Arg)
c.2656T>C (p.Cys886Arg)
c.346T>C (p.Cys116Arg)
c.1691T>C
n.950A>G
c.2302T>C (p.Cys768Arg)
c.1945T>C (p.Cys649Arg)
n.3003T>C
2g.166277168A>TCA349077794SCN1A-AS1,SCN9Ac.2689T>A (p.Cys897Ser)
c.2656T>A (p.Cys886Ser)
c.346T>A (p.Cys116Ser)
c.1691T>A
n.950A>T
c.2302T>A (p.Cys768Ser)
c.1945T>A (p.Cys649Ser)
n.3003T>A
2g.166277169G>ACA429978314SCN1A-AS1,SCN9Ac.2688C>T (p.Val896=)
c.2655C>T (p.Val885=)
c.345C>T (p.Val115=)
c.1690C>T
n.951G>A
c.2301C>T (p.Val767=)
c.1944C>T (p.Val648=)
n.3002C>T
2g.166277169G>CCA429978316SCN1A-AS1,SCN9Ac.2688C>G (p.Val896=)
c.2655C>G (p.Val885=)
c.345C>G (p.Val115=)
c.1690C>G
n.951G>C
c.2301C>G (p.Val767=)
c.1944C>G (p.Val648=)
n.3002C>G
2g.166277169G>TCA429978317SCN1A-AS1,SCN9Ac.2688C>A (p.Val896=)
c.2655C>A (p.Val885=)
c.345C>A (p.Val115=)
c.1690C>A
n.951G>T
c.2301C>A (p.Val767=)
c.1944C>A (p.Val648=)
n.3002C>A
2g.166277170A>CCA349077795SCN1A-AS1,SCN9Ac.2687T>G (p.Val896Gly)
c.2654T>G (p.Val885Gly)
c.344T>G (p.Val115Gly)
c.1689T>G
n.952A>C
c.2300T>G (p.Val767Gly)
c.1943T>G (p.Val648Gly)
n.3001T>G
2g.166277170A>GCA349077797SCN1A-AS1,SCN9Ac.2687T>C (p.Val896Ala)
c.2654T>C (p.Val885Ala)
c.344T>C (p.Val115Ala)
c.1689T>C
n.952A>G
c.2300T>C (p.Val767Ala)
c.1943T>C (p.Val648Ala)
n.3001T>C
2g.166277170A>TCA349077796SCN1A-AS1,SCN9Ac.2687T>A (p.Val896Asp)
c.2654T>A (p.Val885Asp)
c.344T>A (p.Val115Asp)
c.1689T>A
n.952A>T
c.2300T>A (p.Val767Asp)
c.1943T>A (p.Val648Asp)
n.3001T>A
2g.166277171C>ACA349077798SCN1A-AS1,SCN9Ac.2686G>T (p.Val896Phe)
c.2653G>T (p.Val885Phe)
c.343G>T (p.Val115Phe)
c.1688G>T
n.953C>A
c.2299G>T (p.Val767Phe)
c.1942G>T (p.Val648Phe)
n.3000G>T
2g.166277171C=CA1304965064SCN1A-AS1,SCN9Ac.2686G= (p.Val896=)
c.2653G= (p.Val885=)
c.343G= (p.Val115=)
c.1688G=
n.953C=
c.2299G= (p.Val767=)
c.1942G= (p.Val648=)
n.3000G=
2g.166277171C>GCA349077799SCN1A-AS1,SCN9Ac.2686G>C (p.Val896Leu)
c.2653G>C (p.Val885Leu)
c.343G>C (p.Val115Leu)
c.1688G>C
n.953C>G
c.2299G>C (p.Val767Leu)
c.1942G>C (p.Val648Leu)
n.3000G>C
dbSNP gnomAD v2
2g.166277171C>TCA349077800SCN1A-AS1,SCN9Ac.2686G>A (p.Val896Ile)
c.2653G>A (p.Val885Ile)
c.343G>A (p.Val115Ile)
c.1688G>A
n.953C>T
c.2299G>A (p.Val767Ile)
c.1942G>A (p.Val648Ile)
n.3000G>A
dbSNP
2g.166277172A=CA1304965068SCN1A-AS1,SCN9Ac.2685T= (p.Cys895=)
c.2652T= (p.Cys884=)
c.342T= (p.Cys114=)
c.1687T=
n.954A=
c.2298T= (p.Cys766=)
c.1941T= (p.Cys647=)
n.2999T=
2g.166277172A>CCA349077801SCN1A-AS1,SCN9Ac.2685T>G (p.Cys895Trp)
c.2652T>G (p.Cys884Trp)
c.342T>G (p.Cys114Trp)
c.1687T>G
n.954A>C
c.2298T>G (p.Cys766Trp)
c.1941T>G (p.Cys647Trp)
n.2999T>G
dbSNP gnomAD v2 gnomAD v4
2g.166277172A>GCA429978320SCN1A-AS1,SCN9Ac.2685T>C (p.Cys895=)
c.2652T>C (p.Cys884=)
c.342T>C (p.Cys114=)
c.1687T>C
n.954A>G
c.2298T>C (p.Cys766=)
c.1941T>C (p.Cys647=)
n.2999T>C
2g.166277172A>TCA349077802SCN1A-AS1,SCN9Ac.2685T>A (p.Cys895Ter)
c.2652T>A (p.Cys884Ter)
c.342T>A (p.Cys114Ter)
c.1687T>A
n.954A>T
c.2298T>A (p.Cys766Ter)
c.1941T>A (p.Cys647Ter)
n.2999T>A
2g.166277173C>ACA349077803SCN1A-AS1,SCN9Ac.2684G>T (p.Cys895Phe)
c.2651G>T (p.Cys884Phe)
c.341G>T (p.Cys114Phe)
c.1686G>T
n.955C>A
c.2297G>T (p.Cys766Phe)
c.1940G>T (p.Cys647Phe)
n.2998G>T
2g.166277173C>GCA349077804SCN1A-AS1,SCN9Ac.2684G>C (p.Cys895Ser)
c.2651G>C (p.Cys884Ser)
c.341G>C (p.Cys114Ser)
c.1686G>C
n.955C>G
c.2297G>C (p.Cys766Ser)
c.1940G>C (p.Cys647Ser)
n.2998G>C
2g.166277173C>TCA349077805SCN1A-AS1,SCN9Ac.2684G>A (p.Cys895Tyr)
c.2651G>A (p.Cys884Tyr)
c.341G>A (p.Cys114Tyr)
c.1686G>A
n.955C>T
c.2297G>A (p.Cys766Tyr)
c.1940G>A (p.Cys647Tyr)
n.2998G>A
ClinVar
2g.166277174A=CA1304965074SCN1A-AS1,SCN9Ac.2683T= (p.Cys895=)
c.2650T= (p.Cys884=)
c.340T= (p.Cys114=)
c.1685T=
n.956A=
c.2296T= (p.Cys766=)
c.1939T= (p.Cys647=)
n.2997T=
2g.166277174A>CCA349077806SCN1A-AS1,SCN9Ac.2683T>G (p.Cys895Gly)
c.2650T>G (p.Cys884Gly)
c.340T>G (p.Cys114Gly)
c.1685T>G
n.956A>C
c.2296T>G (p.Cys766Gly)
c.1939T>G (p.Cys647Gly)
n.2997T>G
gnomAD v4
2g.166277174A>GCA1944219SCN1A-AS1,SCN9Ac.2683T>C (p.Cys895Arg)
c.2650T>C (p.Cys884Arg)
c.340T>C (p.Cys114Arg)
c.1685T>C
n.956A>G
c.2296T>C (p.Cys766Arg)
c.1939T>C (p.Cys647Arg)
n.2997T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277174A>TCA349077807SCN1A-AS1,SCN9Ac.2683T>A (p.Cys895Ser)
c.2650T>A (p.Cys884Ser)
c.340T>A (p.Cys114Ser)
c.1685T>A
n.956A>T
c.2296T>A (p.Cys766Ser)
c.1939T>A (p.Cys647Ser)
n.2997T>A
2g.166277175T>ACA349077808SCN1A-AS1,SCN9Ac.2682A>T (p.Glu894Asp)
c.2649A>T (p.Glu883Asp)
c.339A>T (p.Glu113Asp)
c.1684A>T
n.957T>A
c.2295A>T (p.Glu765Asp)
c.1938A>T (p.Glu646Asp)
n.2996A>T
2g.166277175T>CCA429978325SCN1A-AS1,SCN9Ac.2682A>G (p.Glu894=)
c.2649A>G (p.Glu883=)
c.339A>G (p.Glu113=)
c.1684A>G
n.957T>C
c.2295A>G (p.Glu765=)
c.1938A>G (p.Glu646=)
n.2996A>G
2g.166277175T>GCA349077809SCN1A-AS1,SCN9Ac.2682A>C (p.Glu894Asp)
c.2649A>C (p.Glu883Asp)
c.339A>C (p.Glu113Asp)
c.1684A>C
n.957T>G
c.2295A>C (p.Glu765Asp)
c.1938A>C (p.Glu646Asp)
n.2996A>C
dbSNP gnomAD v3 gnomAD v4
2g.166277175T=CA1304965078SCN1A-AS1,SCN9Ac.2682A= (p.Glu894=)
c.2649A= (p.Glu883=)
c.339A= (p.Glu113=)
c.1684A=
n.957T=
c.2295A= (p.Glu765=)
c.1938A= (p.Glu646=)
n.2996A=
2g.166277176T>ACA349077810SCN1A-AS1,SCN9Ac.2681A>T (p.Glu894Val)
c.2648A>T (p.Glu883Val)
c.338A>T (p.Glu113Val)
c.1683A>T
n.958T>A
c.2294A>T (p.Glu765Val)
c.1937A>T (p.Glu646Val)
n.2995A>T
ClinVar gnomAD v4
2g.166277176T>CCA349077812SCN1A-AS1,SCN9Ac.2681A>G (p.Glu894Gly)
c.2648A>G (p.Glu883Gly)
c.338A>G (p.Glu113Gly)
c.1683A>G
n.958T>C
c.2294A>G (p.Glu765Gly)
c.1937A>G (p.Glu646Gly)
n.2995A>G
2g.166277176T>GCA349077811SCN1A-AS1,SCN9Ac.2681A>C (p.Glu894Ala)
c.2648A>C (p.Glu883Ala)
c.338A>C (p.Glu113Ala)
c.1683A>C
n.958T>G
c.2294A>C (p.Glu765Ala)
c.1937A>C (p.Glu646Ala)
n.2995A>C
2g.166277177C>ACA349077813SCN1A-AS1,SCN9Ac.2680G>T (p.Glu894Ter)
c.2647G>T (p.Glu883Ter)
c.337G>T (p.Glu113Ter)
c.1682G>T
n.959C>A
c.2293G>T (p.Glu765Ter)
c.1936G>T (p.Glu646Ter)
n.2994G>T
2g.166277177C>GCA349077814SCN1A-AS1,SCN9Ac.2680G>C (p.Glu894Gln)
c.2647G>C (p.Glu883Gln)
c.337G>C (p.Glu113Gln)
c.1682G>C
n.959C>G
c.2293G>C (p.Glu765Gln)
c.1936G>C (p.Glu646Gln)
n.2994G>C
2g.166277177C>TCA349077815SCN1A-AS1,SCN9Ac.2680G>A (p.Glu894Lys)
c.2647G>A (p.Glu883Lys)
c.337G>A (p.Glu113Lys)
c.1682G>A
n.959C>T
c.2293G>A (p.Glu765Lys)
c.1936G>A (p.Glu646Lys)
n.2994G>A
2g.166277178T>ACA349077816SCN1A-AS1,SCN9Ac.2679A>T (p.Lys893Asn)
c.2646A>T (p.Lys882Asn)
c.336A>T (p.Lys112Asn)
c.1681A>T
n.960T>A
c.2292A>T (p.Lys764Asn)
c.1935A>T (p.Lys645Asn)
n.2993A>T
2g.166277178T>CCA429978327SCN1A-AS1,SCN9Ac.2679A>G (p.Lys893=)
c.2646A>G (p.Lys882=)
c.336A>G (p.Lys112=)
c.1681A>G
n.960T>C
c.2292A>G (p.Lys764=)
c.1935A>G (p.Lys645=)
n.2993A>G
gnomAD v4
2g.166277178T>GCA349077817SCN1A-AS1,SCN9Ac.2679A>C (p.Lys893Asn)
c.2646A>C (p.Lys882Asn)
c.336A>C (p.Lys112Asn)
c.1681A>C
n.960T>G
c.2292A>C (p.Lys764Asn)
c.1935A>C (p.Lys645Asn)
n.2993A>C
2g.166277179T>ACA349077818SCN1A-AS1,SCN9Ac.2678A>T (p.Lys893Ile)
c.2645A>T (p.Lys882Ile)
c.335A>T (p.Lys112Ile)
c.1680A>T
n.961T>A
c.2291A>T (p.Lys764Ile)
c.1934A>T (p.Lys645Ile)
n.2992A>T
2g.166277179T>CCA59794652SCN1A-AS1,SCN9Ac.2678A>G (p.Lys893Arg)
c.2645A>G (p.Lys882Arg)
c.335A>G (p.Lys112Arg)
c.1680A>G
n.961T>C
c.2291A>G (p.Lys764Arg)
c.1934A>G (p.Lys645Arg)
n.2992A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277179T>GCA349077819SCN1A-AS1,SCN9Ac.2678A>C (p.Lys893Thr)
c.2645A>C (p.Lys882Thr)
c.335A>C (p.Lys112Thr)
c.1680A>C
n.961T>G
c.2291A>C (p.Lys764Thr)
c.1934A>C (p.Lys645Thr)
n.2992A>C
2g.166277179T=CA1304965086SCN1A-AS1,SCN9Ac.2678A= (p.Lys893=)
c.2645A= (p.Lys882=)
c.335A= (p.Lys112=)
c.1680A=
n.961T=
c.2291A= (p.Lys764=)
c.1934A= (p.Lys645=)
n.2992A=
2g.166277180T>ACA349077820SCN1A-AS1,SCN9Ac.2677A>T (p.Lys893Ter)
c.2644A>T (p.Lys882Ter)
c.334A>T (p.Lys112Ter)
c.1679A>T
n.962T>A
c.2290A>T (p.Lys764Ter)
c.1933A>T (p.Lys645Ter)
n.2991A>T
2g.166277180T>CCA349077821SCN1A-AS1,SCN9Ac.2677A>G (p.Lys893Glu)
c.2644A>G (p.Lys882Glu)
c.334A>G (p.Lys112Glu)
c.1679A>G
n.962T>C
c.2290A>G (p.Lys764Glu)
c.1933A>G (p.Lys645Glu)
n.2991A>G
2g.166277180T>GCA349077822SCN1A-AS1,SCN9Ac.2677A>C (p.Lys893Gln)
c.2644A>C (p.Lys882Gln)
c.334A>C (p.Lys112Gln)
c.1679A>C
n.962T>G
c.2290A>C (p.Lys764Gln)
c.1933A>C (p.Lys645Gln)
n.2991A>C
2g.166277181G>ACA59794658SCN1A-AS1,SCN9Ac.2676C>T (p.Tyr892=)
c.2643C>T (p.Tyr881=)
c.333C>T (p.Tyr111=)
c.1678C>T
n.963G>A
c.2289C>T (p.Tyr763=)
c.1932C>T (p.Tyr644=)
n.2990C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166277181G>CCA349077823SCN1A-AS1,SCN9Ac.2676C>G (p.Tyr892Ter)
c.2643C>G (p.Tyr881Ter)
c.333C>G (p.Tyr111Ter)
c.1678C>G
n.963G>C
c.2289C>G (p.Tyr763Ter)
c.1932C>G (p.Tyr644Ter)
n.2990C>G
2g.166277181G=CA1304965094SCN1A-AS1,SCN9Ac.2676C= (p.Tyr892=)
c.2643C= (p.Tyr881=)
c.333C= (p.Tyr111=)
c.1678C=
n.963G=
c.2289C= (p.Tyr763=)
c.1932C= (p.Tyr644=)
n.2990C=
2g.166277181G>TCA349077824SCN1A-AS1,SCN9Ac.2676C>A (p.Tyr892Ter)
c.2643C>A (p.Tyr881Ter)
c.333C>A (p.Tyr111Ter)
c.1678C>A
n.963G>T
c.2289C>A (p.Tyr763Ter)
c.1932C>A (p.Tyr644Ter)
n.2990C>A
2g.166277182T>ACA349077825SCN1A-AS1,SCN9Ac.2675A>T (p.Tyr892Phe)
c.2642A>T (p.Tyr881Phe)
c.332A>T (p.Tyr111Phe)
c.1677A>T
n.964T>A
c.2288A>T (p.Tyr763Phe)
c.1931A>T (p.Tyr644Phe)
n.2989A>T
2g.166277182T>CCA349077826SCN1A-AS1,SCN9Ac.2675A>G (p.Tyr892Cys)
c.2642A>G (p.Tyr881Cys)
c.332A>G (p.Tyr111Cys)
c.1677A>G
n.964T>C
c.2288A>G (p.Tyr763Cys)
c.1931A>G (p.Tyr644Cys)
n.2989A>G
dbSNP gnomAD v2 gnomAD v4
2g.166277182T>GCA349077827SCN1A-AS1,SCN9Ac.2675A>C (p.Tyr892Ser)
c.2642A>C (p.Tyr881Ser)
c.332A>C (p.Tyr111Ser)
c.1677A>C
n.964T>G
c.2288A>C (p.Tyr763Ser)
c.1931A>C (p.Tyr644Ser)
n.2989A>C
2g.166277182T=CA1304965103SCN1A-AS1,SCN9Ac.2675A= (p.Tyr892=)
c.2642A= (p.Tyr881=)
c.332A= (p.Tyr111=)
c.1677A=
n.964T=
c.2288A= (p.Tyr763=)
c.1931A= (p.Tyr644=)
n.2989A=
2g.166277183A>CCA349077828SCN1A-AS1,SCN9Ac.2674T>G (p.Tyr892Asp)
c.2641T>G (p.Tyr881Asp)
c.331T>G (p.Tyr111Asp)
c.1676T>G
n.965A>C
c.2287T>G (p.Tyr763Asp)
c.1930T>G (p.Tyr644Asp)
n.2988T>G
2g.166277183A>GCA349077829SCN1A-AS1,SCN9Ac.2674T>C (p.Tyr892His)
c.2641T>C (p.Tyr881His)
c.331T>C (p.Tyr111His)
c.1676T>C
n.965A>G
c.2287T>C (p.Tyr763His)
c.1930T>C (p.Tyr644His)
n.2988T>C
2g.166277183A>TCA349077830SCN1A-AS1,SCN9Ac.2674T>A (p.Tyr892Asn)
c.2641T>A (p.Tyr881Asn)
c.331T>A (p.Tyr111Asn)
c.1676T>A
n.965A>T
c.2287T>A (p.Tyr763Asn)
c.1930T>A (p.Tyr644Asn)
n.2988T>A
2g.166277184G>ACA429978334SCN1A-AS1,SCN9Ac.2673C>T (p.Ser891=)
c.2640C>T (p.Ser880=)
c.330C>T (p.Ser110=)
c.1675C>T
n.966G>A
c.2286C>T (p.Ser762=)
c.1929C>T (p.Ser643=)
n.2987C>T
2g.166277184G>CCA349077831SCN1A-AS1,SCN9Ac.2673C>G (p.Ser891Arg)
c.2640C>G (p.Ser880Arg)
c.330C>G (p.Ser110Arg)
c.1675C>G
n.966G>C
c.2286C>G (p.Ser762Arg)
c.1929C>G (p.Ser643Arg)
n.2987C>G
2g.166277184G>TCA349077832SCN1A-AS1,SCN9Ac.2673C>A (p.Ser891Arg)
c.2640C>A (p.Ser880Arg)
c.330C>A (p.Ser110Arg)
c.1675C>A
n.966G>T
c.2286C>A (p.Ser762Arg)
c.1929C>A (p.Ser643Arg)
n.2987C>A
2g.166277185C>ACA349077833SCN1A-AS1,SCN9Ac.2672G>T (p.Ser891Ile)
c.2639G>T (p.Ser880Ile)
c.329G>T (p.Ser110Ile)
c.1674G>T
n.967C>A
c.2285G>T (p.Ser762Ile)
c.1928G>T (p.Ser643Ile)
n.2986G>T
2g.166277185C>GCA349077834SCN1A-AS1,SCN9Ac.2672G>C (p.Ser891Thr)
c.2639G>C (p.Ser880Thr)
c.329G>C (p.Ser110Thr)
c.1674G>C
n.967C>G
c.2285G>C (p.Ser762Thr)
c.1928G>C (p.Ser643Thr)
n.2986G>C
2g.166277185C>TCA349077835SCN1A-AS1,SCN9Ac.2672G>A (p.Ser891Asn)
c.2639G>A (p.Ser880Asn)
c.329G>A (p.Ser110Asn)
c.1674G>A
n.967C>T
c.2285G>A (p.Ser762Asn)
c.1928G>A (p.Ser643Asn)
n.2986G>A
2g.166277186T>ACA349077836SCN1A-AS1,SCN9Ac.2671A>T (p.Ser891Cys)
c.2638A>T (p.Ser880Cys)
c.328A>T (p.Ser110Cys)
c.1673A>T
n.968T>A
c.2284A>T (p.Ser762Cys)
c.1927A>T (p.Ser643Cys)
n.2985A>T
2g.166277186T>CCA1944220SCN1A-AS1,SCN9Ac.2671A>G (p.Ser891Gly)
c.2638A>G (p.Ser880Gly)
c.328A>G (p.Ser110Gly)
c.1673A>G
n.968T>C
c.2284A>G (p.Ser762Gly)
c.1927A>G (p.Ser643Gly)
n.2985A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277186T>GCA349077837SCN1A-AS1,SCN9Ac.2671A>C (p.Ser891Arg)
c.2638A>C (p.Ser880Arg)
c.328A>C (p.Ser110Arg)
c.1673A>C
n.968T>G
c.2284A>C (p.Ser762Arg)
c.1927A>C (p.Ser643Arg)
n.2985A>C
2g.166277186T=CA1304965108SCN1A-AS1,SCN9Ac.2671A= (p.Ser891=)
c.2638A= (p.Ser880=)
c.328A= (p.Ser110=)
c.1673A=
n.968T=
c.2284A= (p.Ser762=)
c.1927A= (p.Ser643=)
n.2985A=
2g.166277187C>ACA349077839SCN1A-AS1,SCN9Ac.2670G>T (p.Lys890Asn)
c.2637G>T (p.Lys879Asn)
c.327G>T (p.Lys109Asn)
c.1672G>T
n.969C>A
c.2283G>T (p.Lys761Asn)
c.1926G>T (p.Lys642Asn)
n.2984G>T
2g.166277187C>GCA349077838SCN1A-AS1,SCN9Ac.2670G>C (p.Lys890Asn)
c.2637G>C (p.Lys879Asn)
c.327G>C (p.Lys109Asn)
c.1672G>C
n.969C>G
c.2283G>C (p.Lys761Asn)
c.1926G>C (p.Lys642Asn)
n.2984G>C
2g.166277187C>TCA429978338SCN1A-AS1,SCN9Ac.2670G>A (p.Lys890=)
c.2637G>A (p.Lys879=)
c.327G>A (p.Lys109=)
c.1672G>A
n.969C>T
c.2283G>A (p.Lys761=)
c.1926G>A (p.Lys642=)
n.2984G>A
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.166277188T>ACA349077840SCN1A-AS1,SCN9Ac.2669A>T (p.Lys890Met)
c.2636A>T (p.Lys879Met)
c.326A>T (p.Lys109Met)
c.1671A>T
n.970T>A
c.2282A>T (p.Lys761Met)
c.1925A>T (p.Lys642Met)
n.2983A>T
2g.166277188T>CCA349077841SCN1A-AS1,SCN9Ac.2669A>G (p.Lys890Arg)
c.2636A>G (p.Lys879Arg)
c.326A>G (p.Lys109Arg)
c.1671A>G
n.970T>C
c.2282A>G (p.Lys761Arg)
c.1925A>G (p.Lys642Arg)
n.2983A>G
2g.166277188T>GCA349077842SCN1A-AS1,SCN9Ac.2669A>C (p.Lys890Thr)
c.2636A>C (p.Lys879Thr)
c.326A>C (p.Lys109Thr)
c.1671A>C
n.970T>G
c.2282A>C (p.Lys761Thr)
c.1925A>C (p.Lys642Thr)
n.2983A>C
2g.166277189T>ACA349077843SCN1A-AS1,SCN9Ac.2668A>T (p.Lys890Ter)
c.2635A>T (p.Lys879Ter)
c.325A>T (p.Lys109Ter)
c.1670A>T
n.971T>A
c.2281A>T (p.Lys761Ter)
c.1924A>T (p.Lys642Ter)
n.2982A>T
2g.166277189T>CCA349077844SCN1A-AS1,SCN9Ac.2668A>G (p.Lys890Glu)
c.2635A>G (p.Lys879Glu)
c.325A>G (p.Lys109Glu)
c.1670A>G
n.971T>C
c.2281A>G (p.Lys761Glu)
c.1924A>G (p.Lys642Glu)
n.2982A>G
2g.166277189T>GCA349077845SCN1A-AS1,SCN9Ac.2668A>C (p.Lys890Gln)
c.2635A>C (p.Lys879Gln)
c.325A>C (p.Lys109Gln)
c.1670A>C
n.971T>G
c.2281A>C (p.Lys761Gln)
c.1924A>C (p.Lys642Gln)
n.2982A>C
2g.166277190A>CCA429978340SCN1A-AS1,SCN9Ac.2667T>G (p.Gly889=)
c.2634T>G (p.Gly878=)
c.324T>G (p.Gly108=)
c.1669T>G
n.972A>C
c.2280T>G (p.Gly760=)
c.1923T>G (p.Gly641=)
n.2981T>G
2g.166277190A>GCA429978341SCN1A-AS1,SCN9Ac.2667T>C (p.Gly889=)
c.2634T>C (p.Gly878=)
c.324T>C (p.Gly108=)
c.1669T>C
n.972A>G
c.2280T>C (p.Gly760=)
c.1923T>C (p.Gly641=)
n.2981T>C
gnomAD v4
2g.166277190A>TCA429978342SCN1A-AS1,SCN9Ac.2667T>A (p.Gly889=)
c.2634T>A (p.Gly878=)
c.324T>A (p.Gly108=)
c.1669T>A
n.972A>T
c.2280T>A (p.Gly760=)
c.1923T>A (p.Gly641=)
n.2981T>A
2g.166277190dupCA2499215221SCN1A-AS1,SCN9Ac.2667dup (p.Lys890Ter)
c.2634dup (p.Lys879Ter)
c.324dup (p.Lys109Ter)
c.1669dup
n.972dup
c.2280dup (p.Lys761Ter)
c.1923dup (p.Lys642Ter)
n.2981dup
ClinVar dbSNP
2g.166277191_166277194delCA2753031906SCN1A-AS1,SCN9Ac.2664_2667del (p.Phe888LeufsTer22)
c.2631_2634del (p.Phe877LeufsTer22)
c.321_324del (p.Phe107LeufsTer22)
c.1666_1669del
n.973_976del
c.2277_2280del (p.Phe759LeufsTer22)
c.1920_1923del (p.Phe640LeufsTer22)
n.2978_2981del
2g.166277191C>ACA1944221SCN1A-AS1,SCN9Ac.2666G>T (p.Gly889Val)
c.2633G>T (p.Gly878Val)
c.323G>T (p.Gly108Val)
c.1668G>T
n.973C>A
c.2279G>T (p.Gly760Val)
c.1922G>T (p.Gly641Val)
n.2980G>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277191C=CA1304965114SCN1A-AS1,SCN9Ac.2666G= (p.Gly889=)
c.2633G= (p.Gly878=)
c.323G= (p.Gly108=)
c.1668G=
n.973C=
c.2279G= (p.Gly760=)
c.1922G= (p.Gly641=)
n.2980G=
2g.166277191C>GCA349077846SCN1A-AS1,SCN9Ac.2666G>C (p.Gly889Ala)
c.2633G>C (p.Gly878Ala)
c.323G>C (p.Gly108Ala)
c.1668G>C
n.973C>G
c.2279G>C (p.Gly760Ala)
c.1922G>C (p.Gly641Ala)
n.2980G>C
gnomAD v4
2g.166277191C>TCA349077847SCN1A-AS1,SCN9Ac.2666G>A (p.Gly889Asp)
c.2633G>A (p.Gly878Asp)
c.323G>A (p.Gly108Asp)
c.1668G>A
n.973C>T
c.2279G>A (p.Gly760Asp)
c.1922G>A (p.Gly641Asp)
n.2980G>A
2g.166277192C>ACA349077848SCN1A-AS1,SCN9Ac.2665G>T (p.Gly889Cys)
c.2632G>T (p.Gly878Cys)
c.322G>T (p.Gly108Cys)
c.1667G>T
n.974C>A
c.2278G>T (p.Gly760Cys)
c.1921G>T (p.Gly641Cys)
n.2979G>T
2g.166277192C>GCA349077849SCN1A-AS1,SCN9Ac.2665G>C (p.Gly889Arg)
c.2632G>C (p.Gly878Arg)
c.322G>C (p.Gly108Arg)
c.1667G>C
n.974C>G
c.2278G>C (p.Gly760Arg)
c.1921G>C (p.Gly641Arg)
n.2979G>C
gnomAD v4
2g.166277192C>TCA349077850SCN1A-AS1,SCN9Ac.2665G>A (p.Gly889Ser)
c.2632G>A (p.Gly878Ser)
c.322G>A (p.Gly108Ser)
c.1667G>A
n.974C>T
c.2278G>A (p.Gly760Ser)
c.1921G>A (p.Gly641Ser)
n.2979G>A
2g.166277193A=CA1304965122SCN1A-AS1,SCN9Ac.2664T= (p.Phe888=)
c.2631T= (p.Phe877=)
c.321T= (p.Phe107=)
c.1666T=
n.975A=
c.2277T= (p.Phe759=)
c.1920T= (p.Phe640=)
n.2978T=
2g.166277193A>CCA349077851SCN1A-AS1,SCN9Ac.2664T>G (p.Phe888Leu)
c.2631T>G (p.Phe877Leu)
c.321T>G (p.Phe107Leu)
c.1666T>G
n.975A>C
c.2277T>G (p.Phe759Leu)
c.1920T>G (p.Phe640Leu)
n.2978T>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277193A>GCA429978345SCN1A-AS1,SCN9Ac.2664T>C (p.Phe888=)
c.2631T>C (p.Phe877=)
c.321T>C (p.Phe107=)
c.1666T>C
n.975A>G
c.2277T>C (p.Phe759=)
c.1920T>C (p.Phe640=)
n.2978T>C
2g.166277193A>TCA349077852SCN1A-AS1,SCN9Ac.2664T>A (p.Phe888Leu)
c.2631T>A (p.Phe877Leu)
c.321T>A (p.Phe107Leu)
c.1666T>A
n.975A>T
c.2277T>A (p.Phe759Leu)
c.1920T>A (p.Phe640Leu)
n.2978T>A
2g.166277193_166277194insTGGTCA2753031907SCN1A-AS1,SCN9Ac.2663_2664insACCA (p.Phe888LeufsTer4)
c.2630_2631insACCA (p.Phe877LeufsTer4)
c.320_321insACCA (p.Phe107LeufsTer4)
c.1665_1666insACCA
n.975_976insTGGT
c.2276_2277insACCA (p.Phe759LeufsTer4)
c.1919_1920insACCA (p.Phe640LeufsTer4)
n.2977_2978insACCA
2g.166277194A>CCA349077853SCN1A-AS1,SCN9Ac.2663T>G (p.Phe888Cys)
c.2630T>G (p.Phe877Cys)
c.320T>G (p.Phe107Cys)
c.1665T>G
n.976A>C
c.2276T>G (p.Phe759Cys)
c.1919T>G (p.Phe640Cys)
n.2977T>G
2g.166277194A>GCA349077855SCN1A-AS1,SCN9Ac.2663T>C (p.Phe888Ser)
c.2630T>C (p.Phe877Ser)
c.320T>C (p.Phe107Ser)
c.1665T>C
n.976A>G
c.2276T>C (p.Phe759Ser)
c.1919T>C (p.Phe640Ser)
n.2977T>C
2g.166277194A>TCA349077854SCN1A-AS1,SCN9Ac.2663T>A (p.Phe888Tyr)
c.2630T>A (p.Phe877Tyr)
c.320T>A (p.Phe107Tyr)
c.1665T>A
n.976A>T
c.2276T>A (p.Phe759Tyr)
c.1919T>A (p.Phe640Tyr)
n.2977T>A
2g.166277195A>CCA349077856SCN1A-AS1,SCN9Ac.2662T>G (p.Phe888Val)
c.2629T>G (p.Phe877Val)
c.319T>G (p.Phe107Val)
c.1664T>G
n.977A>C
c.2275T>G (p.Phe759Val)
c.1918T>G (p.Phe640Val)
n.2976T>G
2g.166277195A>GCA349077857SCN1A-AS1,SCN9Ac.2662T>C (p.Phe888Leu)
c.2629T>C (p.Phe877Leu)
c.319T>C (p.Phe107Leu)
c.1664T>C
n.977A>G
c.2275T>C (p.Phe759Leu)
c.1918T>C (p.Phe640Leu)
n.2976T>C
2g.166277195A>TCA349077858SCN1A-AS1,SCN9Ac.2662T>A (p.Phe888Ile)
c.2629T>A (p.Phe877Ile)
c.319T>A (p.Phe107Ile)
c.1664T>A
n.977A>T
c.2275T>A (p.Phe759Ile)
c.1918T>A (p.Phe640Ile)
n.2976T>A
2g.166277196G>ACA429978350SCN1A-AS1,SCN9Ac.2661C>T (p.Leu887=)
c.2628C>T (p.Leu876=)
c.318C>T (p.Leu106=)
c.1663C>T
n.978G>A
c.2274C>T (p.Leu758=)
c.1917C>T (p.Leu639=)
n.2975C>T
2g.166277196G>CCA429978351SCN1A-AS1,SCN9Ac.2661C>G (p.Leu887=)
c.2628C>G (p.Leu876=)
c.318C>G (p.Leu106=)
c.1663C>G
n.978G>C
c.2274C>G (p.Leu758=)
c.1917C>G (p.Leu639=)
n.2975C>G
ClinVar gnomAD v4
2g.166277196G>TCA429978352SCN1A-AS1,SCN9Ac.2661C>A (p.Leu887=)
c.2628C>A (p.Leu876=)
c.318C>A (p.Leu106=)
c.1663C>A
n.978G>T
c.2274C>A (p.Leu758=)
c.1917C>A (p.Leu639=)
n.2975C>A
2g.166277197A>CCA349077859SCN1A-AS1,SCN9Ac.2660T>G (p.Leu887Arg)
c.2627T>G (p.Leu876Arg)
c.317T>G (p.Leu106Arg)
c.1662T>G
n.979A>C
c.2273T>G (p.Leu758Arg)
c.1916T>G (p.Leu639Arg)
n.2974T>G
2g.166277197A>GCA349077860SCN1A-AS1,SCN9Ac.2660T>C (p.Leu887Pro)
c.2627T>C (p.Leu876Pro)
c.317T>C (p.Leu106Pro)
c.1662T>C
n.979A>G
c.2273T>C (p.Leu758Pro)
c.1916T>C (p.Leu639Pro)
n.2974T>C
2g.166277197A>TCA349077861SCN1A-AS1,SCN9Ac.2660T>A (p.Leu887His)
c.2627T>A (p.Leu876His)
c.317T>A (p.Leu106His)
c.1662T>A
n.979A>T
c.2273T>A (p.Leu758His)
c.1916T>A (p.Leu639His)
n.2974T>A
2g.166277198G>ACA59794669SCN1A-AS1,SCN9Ac.2659C>T (p.Leu887Phe)
c.2626C>T (p.Leu876Phe)
c.316C>T (p.Leu106Phe)
c.1661C>T
n.980G>A
c.2272C>T (p.Leu758Phe)
c.1915C>T (p.Leu639Phe)
n.2973C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277198G>CCA349077862SCN1A-AS1,SCN9Ac.2659C>G (p.Leu887Val)
c.2626C>G (p.Leu876Val)
c.316C>G (p.Leu106Val)
c.1661C>G
n.980G>C
c.2272C>G (p.Leu758Val)
c.1915C>G (p.Leu639Val)
n.2973C>G
2g.166277198G=CA1304965129SCN1A-AS1,SCN9Ac.2659C= (p.Leu887=)
c.2626C= (p.Leu876=)
c.316C= (p.Leu106=)
c.1661C=
n.980G=
c.2272C= (p.Leu758=)
c.1915C= (p.Leu639=)
n.2973C=
2g.166277198G>TCA349077863SCN1A-AS1,SCN9Ac.2659C>A (p.Leu887Ile)
c.2626C>A (p.Leu876Ile)
c.316C>A (p.Leu106Ile)
c.1661C>A
n.980G>T
c.2272C>A (p.Leu758Ile)
c.1915C>A (p.Leu639Ile)
n.2973C>A
2g.166277199C>ACA349077864SCN1A-AS1,SCN9Ac.2658G>T (p.Gln886His)
c.2625G>T (p.Gln875His)
c.315G>T (p.Gln105His)
c.1660G>T
n.981C>A
c.2271G>T (p.Gln757His)
c.1914G>T (p.Gln638His)
n.2972G>T
2g.166277199C>GCA349077865SCN1A-AS1,SCN9Ac.2658G>C (p.Gln886His)
c.2625G>C (p.Gln875His)
c.315G>C (p.Gln105His)
c.1660G>C
n.981C>G
c.2271G>C (p.Gln757His)
c.1914G>C (p.Gln638His)
n.2972G>C
2g.166277199C>TCA429978358SCN1A-AS1,SCN9Ac.2658G>A (p.Gln886=)
c.2625G>A (p.Gln875=)
c.315G>A (p.Gln105=)
c.1660G>A
n.981C>T
c.2271G>A (p.Gln757=)
c.1914G>A (p.Gln638=)
n.2972G>A
ClinVar dbSNP gnomAD v4
2g.166277200T>ACA349077868SCN1A-AS1,SCN9Ac.2657A>T (p.Gln886Leu)
c.2624A>T (p.Gln875Leu)
c.314A>T (p.Gln105Leu)
c.1659A>T
n.982T>A
c.2270A>T (p.Gln757Leu)
c.1913A>T (p.Gln638Leu)
n.2971A>T
2g.166277200T>CCA349077867SCN1A-AS1,SCN9Ac.2657A>G (p.Gln886Arg)
c.2624A>G (p.Gln875Arg)
c.314A>G (p.Gln105Arg)
c.1659A>G
n.982T>C
c.2270A>G (p.Gln757Arg)
c.1913A>G (p.Gln638Arg)
n.2971A>G
2g.166277200T>GCA349077866SCN1A-AS1,SCN9Ac.2657A>C (p.Gln886Pro)
c.2624A>C (p.Gln875Pro)
c.314A>C (p.Gln105Pro)
c.1659A>C
n.982T>G
c.2270A>C (p.Gln757Pro)
c.1913A>C (p.Gln638Pro)
n.2971A>C
2g.166277201G>ACA349077869SCN1A-AS1,SCN9Ac.2656C>T (p.Gln886Ter)
c.2623C>T (p.Gln875Ter)
c.313C>T (p.Gln105Ter)
c.1658C>T
n.983G>A
c.2269C>T (p.Gln757Ter)
c.1912C>T (p.Gln638Ter)
n.2970C>T
2g.166277201G>CCA349077870SCN1A-AS1,SCN9Ac.2656C>G (p.Gln886Glu)
c.2623C>G (p.Gln875Glu)
c.313C>G (p.Gln105Glu)
c.1658C>G
n.983G>C
c.2269C>G (p.Gln757Glu)
c.1912C>G (p.Gln638Glu)
n.2970C>G
ClinVar
2g.166277201G>TCA349077871SCN1A-AS1,SCN9Ac.2656C>A (p.Gln886Lys)
c.2623C>A (p.Gln875Lys)
c.313C>A (p.Gln105Lys)
c.1658C>A
n.983G>T
c.2269C>A (p.Gln757Lys)
c.1912C>A (p.Gln638Lys)
n.2970C>A
gnomAD v4
2g.166277202C>ACA349077872SCN1A-AS1,SCN9Ac.2655G>T (p.Met885Ile)
c.2622G>T (p.Met874Ile)
c.312G>T (p.Met104Ile)
c.1657G>T
n.984C>A
c.2268G>T (p.Met756Ile)
c.1911G>T (p.Met637Ile)
n.2969G>T
2g.166277202C=CA1304965138SCN1A-AS1,SCN9Ac.2655G= (p.Met885=)
c.2622G= (p.Met874=)
c.312G= (p.Met104=)
c.1657G=
n.984C=
c.2268G= (p.Met756=)
c.1911G= (p.Met637=)
n.2969G=
2g.166277202C>GCA349077873SCN1A-AS1,SCN9Ac.2655G>C (p.Met885Ile)
c.2622G>C (p.Met874Ile)
c.312G>C (p.Met104Ile)
c.1657G>C
n.984C>G
c.2268G>C (p.Met756Ile)
c.1911G>C (p.Met637Ile)
n.2969G>C
2g.166277202C>TCA349077874SCN1A-AS1,SCN9Ac.2655G>A (p.Met885Ile)
c.2622G>A (p.Met874Ile)
c.312G>A (p.Met104Ile)
c.1657G>A
n.984C>T
c.2268G>A (p.Met756Ile)
c.1911G>A (p.Met637Ile)
n.2969G>A
dbSNP gnomAD v3 gnomAD v4
2g.166277203A=CA1304965149SCN1A-AS1,SCN9Ac.2654T= (p.Met885=)
c.2621T= (p.Met874=)
c.311T= (p.Met104=)
c.1656T=
n.985A=
c.2267T= (p.Met756=)
c.1910T= (p.Met637=)
n.2968T=
2g.166277203A>CCA349077875SCN1A-AS1,SCN9Ac.2654T>G (p.Met885Arg)
c.2621T>G (p.Met874Arg)
c.311T>G (p.Met104Arg)
c.1656T>G
n.985A>C
c.2267T>G (p.Met756Arg)
c.1910T>G (p.Met637Arg)
n.2968T>G
2g.166277203A>GCA349077876SCN1A-AS1,SCN9Ac.2654T>C (p.Met885Thr)
c.2621T>C (p.Met874Thr)
c.311T>C (p.Met104Thr)
c.1656T>C
n.985A>G
c.2267T>C (p.Met756Thr)
c.1910T>C (p.Met637Thr)
n.2968T>C
dbSNP gnomAD v2 gnomAD v4
2g.166277203A>TCA349077877SCN1A-AS1,SCN9Ac.2654T>A (p.Met885Lys)
c.2621T>A (p.Met874Lys)
c.311T>A (p.Met104Lys)
c.1656T>A
n.985A>T
c.2267T>A (p.Met756Lys)
c.1910T>A (p.Met637Lys)
n.2968T>A
2g.166277204T>ACA349077878SCN1A-AS1,SCN9Ac.2653A>T (p.Met885Leu)
c.2620A>T (p.Met874Leu)
c.310A>T (p.Met104Leu)
c.1655A>T
n.986T>A
c.2266A>T (p.Met756Leu)
c.1909A>T (p.Met637Leu)
n.2967A>T
2g.166277204T>CCA349077879SCN1A-AS1,SCN9Ac.2653A>G (p.Met885Val)
c.2620A>G (p.Met874Val)
c.310A>G (p.Met104Val)
c.1655A>G
n.986T>C
c.2266A>G (p.Met756Val)
c.1909A>G (p.Met637Val)
n.2967A>G
dbSNP gnomAD v2 gnomAD v4
2g.166277204T>GCA349077880SCN1A-AS1,SCN9Ac.2653A>C (p.Met885Leu)
c.2620A>C (p.Met874Leu)
c.310A>C (p.Met104Leu)
c.1655A>C
n.986T>G
c.2266A>C (p.Met756Leu)
c.1909A>C (p.Met637Leu)
n.2967A>C
2g.166277204T=CA1304965153SCN1A-AS1,SCN9Ac.2653A= (p.Met885=)
c.2620A= (p.Met874=)
c.310A= (p.Met104=)
c.1655A=
n.986T=
c.2266A= (p.Met756=)
c.1909A= (p.Met637=)
n.2967A=
2g.166277205G>ACA1944222SCN1A-AS1,SCN9Ac.2652C>T (p.Gly884=)
c.2619C>T (p.Gly873=)
c.309C>T (p.Gly103=)
c.1654C>T
n.987G>A
c.2265C>T (p.Gly755=)
c.1908C>T (p.Gly636=)
n.2966C>T
ClinVar dbSNP ExAC gnomAD v2
2g.166277205G>CCA429978368SCN1A-AS1,SCN9Ac.2652C>G (p.Gly884=)
c.2619C>G (p.Gly873=)
c.309C>G (p.Gly103=)
c.1654C>G
n.987G>C
c.2265C>G (p.Gly755=)
c.1908C>G (p.Gly636=)
n.2966C>G
2g.166277205G=CA1304965159SCN1A-AS1,SCN9Ac.2652C= (p.Gly884=)
c.2619C= (p.Gly873=)
c.309C= (p.Gly103=)
c.1654C=
n.987G=
c.2265C= (p.Gly755=)
c.1908C= (p.Gly636=)
n.2966C=
2g.166277205G>TCA429978366SCN1A-AS1,SCN9Ac.2652C>A (p.Gly884=)
c.2619C>A (p.Gly873=)
c.309C>A (p.Gly103=)
c.1654C>A
n.987G>T
c.2265C>A (p.Gly755=)
c.1908C>A (p.Gly636=)
n.2966C>A
2g.166277206C>ACA349077882SCN1A-AS1,SCN9Ac.2651G>T (p.Gly884Val)
c.2618G>T (p.Gly873Val)
c.308G>T (p.Gly103Val)
c.1653G>T
n.988C>A
c.2264G>T (p.Gly755Val)
c.1907G>T (p.Gly636Val)
n.2965G>T
2g.166277206C>GCA349077883SCN1A-AS1,SCN9Ac.2651G>C (p.Gly884Ala)
c.2618G>C (p.Gly873Ala)
c.308G>C (p.Gly103Ala)
c.1653G>C
n.988C>G
c.2264G>C (p.Gly755Ala)
c.1907G>C (p.Gly636Ala)
n.2965G>C
2g.166277206C>TCA349077881SCN1A-AS1,SCN9Ac.2651G>A (p.Gly884Asp)
c.2618G>A (p.Gly873Asp)
c.308G>A (p.Gly103Asp)
c.1653G>A
n.988C>T
c.2264G>A (p.Gly755Asp)
c.1907G>A (p.Gly636Asp)
n.2965G>A
COSMIC COSMIC
2g.166277207C>ACA349077885SCN1A-AS1,SCN9Ac.2650G>T (p.Gly884Cys)
c.2617G>T (p.Gly873Cys)
c.307G>T (p.Gly103Cys)
c.1652G>T
n.989C>A
c.2263G>T (p.Gly755Cys)
c.1906G>T (p.Gly636Cys)
n.2964G>T
2g.166277207C=CA1304965171SCN1A-AS1,SCN9Ac.2650G= (p.Gly884=)
c.2617G= (p.Gly873=)
c.307G= (p.Gly103=)
c.1652G=
n.989C=
c.2263G= (p.Gly755=)
c.1906G= (p.Gly636=)
n.2964G=
2g.166277207C>GCA349077884SCN1A-AS1,SCN9Ac.2650G>C (p.Gly884Arg)
c.2617G>C (p.Gly873Arg)
c.307G>C (p.Gly103Arg)
c.1652G>C
n.989C>G
c.2263G>C (p.Gly755Arg)
c.1906G>C (p.Gly636Arg)
n.2964G>C
2g.166277207C>TCA1944223SCN1A-AS1,SCN9Ac.2650G>A (p.Gly884Ser)
c.2617G>A (p.Gly873Ser)
c.307G>A (p.Gly103Ser)
c.1652G>A
n.989C>T
c.2263G>A (p.Gly755Ser)
c.1906G>A (p.Gly636Ser)
n.2964G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.166277208G>ACA1944225SCN1A-AS1,SCN9Ac.2649C>T (p.Val883=)
c.2616C>T (p.Val872=)
c.306C>T (p.Val102=)
c.1651C>T
n.990G>A
c.2262C>T (p.Val754=)
c.1905C>T (p.Val635=)
n.2963C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277208G>CCA1944224SCN1A-AS1,SCN9Ac.2649C>G (p.Val883=)
c.2616C>G (p.Val872=)
c.306C>G (p.Val102=)
c.1651C>G
n.990G>C
c.2262C>G (p.Val754=)
c.1905C>G (p.Val635=)
n.2963C>G
dbSNP ExAC gnomAD v2
2g.166277208G=CA1304965186SCN1A-AS1,SCN9Ac.2649C= (p.Val883=)
c.2616C= (p.Val872=)
c.306C= (p.Val102=)
c.1651C=
n.990G=
c.2262C= (p.Val754=)
c.1905C= (p.Val635=)
n.2963C=
2g.166277208G>TCA429978371SCN1A-AS1,SCN9Ac.2649C>A (p.Val883=)
c.2616C>A (p.Val872=)
c.306C>A (p.Val102=)
c.1651C>A
n.990G>T
c.2262C>A (p.Val754=)
c.1905C>A (p.Val635=)
n.2963C>A
2g.166277209A=CA1304965208SCN1A-AS1,SCN9Ac.2648T= (p.Val883=)
c.2615T= (p.Val872=)
c.305T= (p.Val102=)
c.1650T=
n.991A=
c.2261T= (p.Val754=)
c.1904T= (p.Val635=)
n.2962T=
2g.166277209A>CCA349077886SCN1A-AS1,SCN9Ac.2648T>G (p.Val883Gly)
c.2615T>G (p.Val872Gly)
c.305T>G (p.Val102Gly)
c.1650T>G
n.991A>C
c.2261T>G (p.Val754Gly)
c.1904T>G (p.Val635Gly)
n.2962T>G
2g.166277209A>GCA349077887SCN1A-AS1,SCN9Ac.2648T>C (p.Val883Ala)
c.2615T>C (p.Val872Ala)
c.305T>C (p.Val102Ala)
c.1650T>C
n.991A>G
c.2261T>C (p.Val754Ala)
c.1904T>C (p.Val635Ala)
n.2962T>C
2g.166277209A>TCA349077888SCN1A-AS1,SCN9Ac.2648T>A (p.Val883Asp)
c.2615T>A (p.Val872Asp)
c.305T>A (p.Val102Asp)
c.1650T>A
n.991A>T
c.2261T>A (p.Val754Asp)
c.1904T>A (p.Val635Asp)
n.2962T>A
dbSNP gnomAD v4
2g.166277210C>ACA1944226SCN1A-AS1,SCN9Ac.2647G>T (p.Val883Phe)
c.2614G>T (p.Val872Phe)
c.304G>T (p.Val102Phe)
c.1649G>T
n.992C>A
c.2260G>T (p.Val754Phe)
c.1903G>T (p.Val635Phe)
n.2961G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277210C=CA1304965212SCN1A-AS1,SCN9Ac.2647G= (p.Val883=)
c.2614G= (p.Val872=)
c.304G= (p.Val102=)
c.1649G=
n.992C=
c.2260G= (p.Val754=)
c.1903G= (p.Val635=)
n.2961G=
2g.166277210C>GCA349077889SCN1A-AS1,SCN9Ac.2647G>C (p.Val883Leu)
c.2614G>C (p.Val872Leu)
c.304G>C (p.Val102Leu)
c.1649G>C
n.992C>G
c.2260G>C (p.Val754Leu)
c.1903G>C (p.Val635Leu)
n.2961G>C
gnomAD v4
2g.166277210C>TCA349077890SCN1A-AS1,SCN9Ac.2647G>A (p.Val883Ile)
c.2614G>A (p.Val872Ile)
c.304G>A (p.Val102Ile)
c.1649G>A
n.992C>T
c.2260G>A (p.Val754Ile)
c.1903G>A (p.Val635Ile)
n.2961G>A
ClinVar dbSNP gnomAD v4
2g.166277211C>ACA429978376SCN1A-AS1,SCN9Ac.2646G>T (p.Val882=)
c.2613G>T (p.Val871=)
c.303G>T (p.Val101=)
c.1648G>T
n.993C>A
c.2259G>T (p.Val753=)
c.1902G>T (p.Val634=)
n.2960G>T
2g.166277211C>GCA429978378SCN1A-AS1,SCN9Ac.2646G>C (p.Val882=)
c.2613G>C (p.Val871=)
c.303G>C (p.Val101=)
c.1648G>C
n.993C>G
c.2259G>C (p.Val753=)
c.1902G>C (p.Val634=)
n.2960G>C
2g.166277211C>TCA429978377SCN1A-AS1,SCN9Ac.2646G>A (p.Val882=)
c.2613G>A (p.Val871=)
c.303G>A (p.Val101=)
c.1648G>A
n.993C>T
c.2259G>A (p.Val753=)
c.1902G>A (p.Val634=)
n.2960G>A
2g.166277212A>CCA349077891SCN1A-AS1,SCN9Ac.2645T>G (p.Val882Gly)
c.2612T>G (p.Val871Gly)
c.302T>G (p.Val101Gly)
c.1647T>G
n.994A>C
c.2258T>G (p.Val753Gly)
c.1901T>G (p.Val634Gly)
n.2959T>G
2g.166277212A>GCA349077892SCN1A-AS1,SCN9Ac.2645T>C (p.Val882Ala)
c.2612T>C (p.Val871Ala)
c.302T>C (p.Val101Ala)
c.1647T>C
n.994A>G
c.2258T>C (p.Val753Ala)
c.1901T>C (p.Val634Ala)
n.2959T>C
dbSNP
2g.166277212A>TCA349077893SCN1A-AS1,SCN9Ac.2645T>A (p.Val882Glu)
c.2612T>A (p.Val871Glu)
c.302T>A (p.Val101Glu)
c.1647T>A
n.994A>T
c.2258T>A (p.Val753Glu)
c.1901T>A (p.Val634Glu)
n.2959T>A
2g.166277213C>ACA349077895SCN1A-AS1,SCN9Ac.2644G>T (p.Val882Leu)
c.2611G>T (p.Val871Leu)
c.301G>T (p.Val101Leu)
c.1646G>T
n.995C>A
c.2257G>T (p.Val753Leu)
c.1900G>T (p.Val634Leu)
n.2958G>T
2g.166277213C=CA1304965217SCN1A-AS1,SCN9Ac.2644G= (p.Val882=)
c.2611G= (p.Val871=)
c.301G= (p.Val101=)
c.1646G=
n.995C=
c.2257G= (p.Val753=)
c.1900G= (p.Val634=)
n.2958G=
2g.166277213C>GCA349077896SCN1A-AS1,SCN9Ac.2644G>C (p.Val882Leu)
c.2611G>C (p.Val871Leu)
c.301G>C (p.Val101Leu)
c.1646G>C
n.995C>G
c.2257G>C (p.Val753Leu)
c.1900G>C (p.Val634Leu)
n.2958G>C
ClinVar dbSNP
2g.166277213C>TCA349077894SCN1A-AS1,SCN9Ac.2644G>A (p.Val882Met)
c.2611G>A (p.Val871Met)
c.301G>A (p.Val101Met)
c.1646G>A
n.995C>T
c.2257G>A (p.Val753Met)
c.1900G>A (p.Val634Met)
n.2958G>A
gnomAD v4
2g.166277214A>CCA429978379SCN1A-AS1,SCN9Ac.2643T>G (p.Ala881=)
c.2610T>G (p.Ala870=)
c.300T>G (p.Ala100=)
c.1645T>G
n.996A>C
c.2256T>G (p.Ala752=)
c.1899T>G (p.Ala633=)
n.2957T>G
2g.166277214A>GCA429978380SCN1A-AS1,SCN9Ac.2643T>C (p.Ala881=)
c.2610T>C (p.Ala870=)
c.300T>C (p.Ala100=)
c.1645T>C
n.996A>G
c.2256T>C (p.Ala752=)
c.1899T>C (p.Ala633=)
n.2957T>C
gnomAD v4
2g.166277214A>TCA429978381SCN1A-AS1,SCN9Ac.2643T>A (p.Ala881=)
c.2610T>A (p.Ala870=)
c.300T>A (p.Ala100=)
c.1645T>A
n.996A>T
c.2256T>A (p.Ala752=)
c.1899T>A (p.Ala633=)
n.2957T>A
2g.166277215G>ACA59794736SCN1A-AS1,SCN9Ac.2642C>T (p.Ala881Val)
c.2609C>T (p.Ala870Val)
c.299C>T (p.Ala100Val)
c.1644C>T
n.997G>A
c.2255C>T (p.Ala752Val)
c.1898C>T (p.Ala633Val)
n.2956C>T
dbSNP
2g.166277215G>CCA349077897SCN1A-AS1,SCN9Ac.2642C>G (p.Ala881Gly)
c.2609C>G (p.Ala870Gly)
c.299C>G (p.Ala100Gly)
c.1644C>G
n.997G>C
c.2255C>G (p.Ala752Gly)
c.1898C>G (p.Ala633Gly)
n.2956C>G
2g.166277215G=CA1304965224SCN1A-AS1,SCN9Ac.2642C= (p.Ala881=)
c.2609C= (p.Ala870=)
c.299C= (p.Ala100=)
c.1644C=
n.997G=
c.2255C= (p.Ala752=)
c.1898C= (p.Ala633=)
n.2956C=
2g.166277215G>TCA349077898SCN1A-AS1,SCN9Ac.2642C>A (p.Ala881Asp)
c.2609C>A (p.Ala870Asp)
c.299C>A (p.Ala100Asp)
c.1644C>A
n.997G>T
c.2255C>A (p.Ala752Asp)
c.1898C>A (p.Ala633Asp)
n.2956C>A
2g.166277216C>ACA349077899SCN1A-AS1,SCN9Ac.2641G>T (p.Ala881Ser)
c.2608G>T (p.Ala870Ser)
c.298G>T (p.Ala100Ser)
c.1643G>T
n.998C>A
c.2254G>T (p.Ala752Ser)
c.1897G>T (p.Ala633Ser)
n.2955G>T
2g.166277216C>GCA349077900SCN1A-AS1,SCN9Ac.2641G>C (p.Ala881Pro)
c.2608G>C (p.Ala870Pro)
c.298G>C (p.Ala100Pro)
c.1643G>C
n.998C>G
c.2254G>C (p.Ala752Pro)
c.1897G>C (p.Ala633Pro)
n.2955G>C
2g.166277216C>TCA349077901SCN1A-AS1,SCN9Ac.2641G>A (p.Ala881Thr)
c.2608G>A (p.Ala870Thr)
c.298G>A (p.Ala100Thr)
c.1643G>A
n.998C>T
c.2254G>A (p.Ala752Thr)
c.1897G>A (p.Ala633Thr)
n.2955G>A
2g.166277217A>CCA349077902SCN1A-AS1,SCN9Ac.2640T>G (p.Phe880Leu)
c.2607T>G (p.Phe869Leu)
c.297T>G (p.Phe99Leu)
c.1642T>G
n.999A>C
c.2253T>G (p.Phe751Leu)
c.1896T>G (p.Phe632Leu)
n.2954T>G
2g.166277217A>GCA429978383SCN1A-AS1,SCN9Ac.2640T>C (p.Phe880=)
c.2607T>C (p.Phe869=)
c.297T>C (p.Phe99=)
c.1642T>C
n.999A>G
c.2253T>C (p.Phe751=)
c.1896T>C (p.Phe632=)
n.2954T>C
2g.166277217A>TCA349077903SCN1A-AS1,SCN9Ac.2640T>A (p.Phe880Leu)
c.2607T>A (p.Phe869Leu)
c.297T>A (p.Phe99Leu)
c.1642T>A
n.999A>T
c.2253T>A (p.Phe751Leu)
c.1896T>A (p.Phe632Leu)
n.2954T>A
2g.166277221delCA645519734SCN1A-AS1,SCN9Ac.2640del (p.Phe880LeufsTer?)
c.2607del (p.Phe869LeufsTer?)
c.297del (p.Phe99LeufsTer?)
c.1642del
n.1003del
c.2253del (p.Phe751LeufsTer?)
c.1896del (p.Phe632LeufsTer?)
n.2954del
COSMIC COSMIC
2g.166277218A>CCA349077904SCN1A-AS1,SCN9Ac.2639T>G (p.Phe880Cys)
c.2606T>G (p.Phe869Cys)
c.296T>G (p.Phe99Cys)
c.1641T>G
n.1000A>C
c.2252T>G (p.Phe751Cys)
c.1895T>G (p.Phe632Cys)
n.2953T>G
2g.166277218A>GCA349077905SCN1A-AS1,SCN9Ac.2639T>C (p.Phe880Ser)
c.2606T>C (p.Phe869Ser)
c.296T>C (p.Phe99Ser)
c.1641T>C
n.1000A>G
c.2252T>C (p.Phe751Ser)
c.1895T>C (p.Phe632Ser)
n.2953T>C
2g.166277218A>TCA349077906SCN1A-AS1,SCN9Ac.2639T>A (p.Phe880Tyr)
c.2606T>A (p.Phe869Tyr)
c.296T>A (p.Phe99Tyr)
c.1641T>A
n.1000A>T
c.2252T>A (p.Phe751Tyr)
c.1895T>A (p.Phe632Tyr)
n.2953T>A
2g.166277219A>CCA349077907SCN1A-AS1,SCN9Ac.2638T>G (p.Phe880Val)
c.2605T>G (p.Phe869Val)
c.295T>G (p.Phe99Val)
c.1640T>G
n.1001A>C
c.2251T>G (p.Phe751Val)
c.1894T>G (p.Phe632Val)
n.2952T>G
gnomAD v4
2g.166277219A>GCA349077908SCN1A-AS1,SCN9Ac.2638T>C (p.Phe880Leu)
c.2605T>C (p.Phe869Leu)
c.295T>C (p.Phe99Leu)
c.1640T>C
n.1001A>G
c.2251T>C (p.Phe751Leu)
c.1894T>C (p.Phe632Leu)
n.2952T>C
2g.166277219A>TCA349077909SCN1A-AS1,SCN9Ac.2638T>A (p.Phe880Ile)
c.2605T>A (p.Phe869Ile)
c.295T>A (p.Phe99Ile)
c.1640T>A
n.1001A>T
c.2251T>A (p.Phe751Ile)
c.1894T>A (p.Phe632Ile)
n.2952T>A
2g.166277220A>CCA349077910SCN1A-AS1,SCN9Ac.2637T>G (p.Ile879Met)
c.2604T>G (p.Ile868Met)
c.294T>G (p.Ile98Met)
c.1639T>G
n.1002A>C
c.2250T>G (p.Ile750Met)
c.1893T>G (p.Ile631Met)
n.2951T>G
2g.166277220A>GCA429978385SCN1A-AS1,SCN9Ac.2637T>C (p.Ile879=)
c.2604T>C (p.Ile868=)
c.294T>C (p.Ile98=)
c.1639T>C
n.1002A>G
c.2250T>C (p.Ile750=)
c.1893T>C (p.Ile631=)
n.2951T>C
2g.166277220A>TCA429978387SCN1A-AS1,SCN9Ac.2637T>A (p.Ile879=)
c.2604T>A (p.Ile868=)
c.294T>A (p.Ile98=)
c.1639T>A
n.1002A>T
c.2250T>A (p.Ile750=)
c.1893T>A (p.Ile631=)
n.2951T>A
2g.166277221A=CA1304965233SCN1A-AS1,SCN9Ac.2636T= (p.Ile879=)
c.2603T= (p.Ile868=)
c.293T= (p.Ile98=)
c.1638T=
n.1003A=
c.2249T= (p.Ile750=)
c.1892T= (p.Ile631=)
n.2950T=
2g.166277221A>CCA349077911SCN1A-AS1,SCN9Ac.2636T>G (p.Ile879Ser)
c.2603T>G (p.Ile868Ser)
c.293T>G (p.Ile98Ser)
c.1638T>G
n.1003A>C
c.2249T>G (p.Ile750Ser)
c.1892T>G (p.Ile631Ser)
n.2950T>G
2g.166277221A>GCA1944227SCN1A-AS1,SCN9Ac.2636T>C (p.Ile879Thr)
c.2603T>C (p.Ile868Thr)
c.293T>C (p.Ile98Thr)
c.1638T>C
n.1003A>G
c.2249T>C (p.Ile750Thr)
c.1892T>C (p.Ile631Thr)
n.2950T>C
dbSNP ExAC gnomAD v4
2g.166277221A>TCA349077912SCN1A-AS1,SCN9Ac.2636T>A (p.Ile879Asn)
c.2603T>A (p.Ile868Asn)
c.293T>A (p.Ile98Asn)
c.1638T>A
n.1003A>T
c.2249T>A (p.Ile750Asn)
c.1892T>A (p.Ile631Asn)
n.2950T>A
2g.166277222T>ACA349077913SCN1A-AS1,SCN9Ac.2635A>T (p.Ile879Phe)
c.2602A>T (p.Ile868Phe)
c.292A>T (p.Ile98Phe)
c.1637A>T
n.1004T>A
c.2248A>T (p.Ile750Phe)
c.1891A>T (p.Ile631Phe)
n.2949A>T
2g.166277222T>CCA349077914SCN1A-AS1,SCN9Ac.2635A>G (p.Ile879Val)
c.2602A>G (p.Ile868Val)
c.292A>G (p.Ile98Val)
c.1637A>G
n.1004T>C
c.2248A>G (p.Ile750Val)
c.1891A>G (p.Ile631Val)
n.2949A>G
2g.166277222T>GCA349077915SCN1A-AS1,SCN9Ac.2635A>C (p.Ile879Leu)
c.2602A>C (p.Ile868Leu)
c.292A>C (p.Ile98Leu)
c.1637A>C
n.1004T>G
c.2248A>C (p.Ile750Leu)
c.1891A>C (p.Ile631Leu)
n.2949A>C
2g.166277223G>ACA1944228SCN1A-AS1,SCN9Ac.2634C>T (p.Phe878=)
c.2601C>T (p.Phe867=)
c.291C>T (p.Phe97=)
c.1636C>T
n.1005G>A
c.2247C>T (p.Phe749=)
c.1890C>T (p.Phe630=)
n.2948C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277223G>CCA349077916SCN1A-AS1,SCN9Ac.2634C>G (p.Phe878Leu)
c.2601C>G (p.Phe867Leu)
c.291C>G (p.Phe97Leu)
c.1636C>G
n.1005G>C
c.2247C>G (p.Phe749Leu)
c.1890C>G (p.Phe630Leu)
n.2948C>G
2g.166277223G=CA1304965241SCN1A-AS1,SCN9Ac.2634C= (p.Phe878=)
c.2601C= (p.Phe867=)
c.291C= (p.Phe97=)
c.1636C=
n.1005G=
c.2247C= (p.Phe749=)
c.1890C= (p.Phe630=)
n.2948C=
2g.166277223G>TCA349077917SCN1A-AS1,SCN9Ac.2634C>A (p.Phe878Leu)
c.2601C>A (p.Phe867Leu)
c.291C>A (p.Phe97Leu)
c.1636C>A
n.1005G>T
c.2247C>A (p.Phe749Leu)
c.1890C>A (p.Phe630Leu)
n.2948C>A
2g.166277224A=CA1304965249SCN1A-AS1,SCN9Ac.2633T= (p.Phe878=)
c.2600T= (p.Phe867=)
c.290T= (p.Phe97=)
c.1635T=
n.1006A=
c.2246T= (p.Phe749=)
c.1889T= (p.Phe630=)
n.2947T=
2g.166277224A>CCA349077918SCN1A-AS1,SCN9Ac.2633T>G (p.Phe878Cys)
c.2600T>G (p.Phe867Cys)
c.290T>G (p.Phe97Cys)
c.1635T>G
n.1006A>C
c.2246T>G (p.Phe749Cys)
c.1889T>G (p.Phe630Cys)
n.2947T>G
2g.166277224A>GCA349077919SCN1A-AS1,SCN9Ac.2633T>C (p.Phe878Ser)
c.2600T>C (p.Phe867Ser)
c.290T>C (p.Phe97Ser)
c.1635T>C
n.1006A>G
c.2246T>C (p.Phe749Ser)
c.1889T>C (p.Phe630Ser)
n.2947T>C
ClinVar dbSNP gnomAD v4
2g.166277224A>TCA349077920SCN1A-AS1,SCN9Ac.2633T>A (p.Phe878Tyr)
c.2600T>A (p.Phe867Tyr)
c.290T>A (p.Phe97Tyr)
c.1635T>A
n.1006A>T
c.2246T>A (p.Phe749Tyr)
c.1889T>A (p.Phe630Tyr)
n.2947T>A
2g.166277225A>CCA349077921SCN1A-AS1,SCN9Ac.2632T>G (p.Phe878Val)
c.2599T>G (p.Phe867Val)
c.289T>G (p.Phe97Val)
c.1634T>G
n.1007A>C
c.2245T>G (p.Phe749Val)
c.1888T>G (p.Phe630Val)
n.2946T>G
2g.166277225A>GCA349077922SCN1A-AS1,SCN9Ac.2632T>C (p.Phe878Leu)
c.2599T>C (p.Phe867Leu)
c.289T>C (p.Phe97Leu)
c.1634T>C
n.1007A>G
c.2245T>C (p.Phe749Leu)
c.1888T>C (p.Phe630Leu)
n.2946T>C
COSMIC COSMIC
2g.166277225A>TCA349077923SCN1A-AS1,SCN9Ac.2632T>A (p.Phe878Ile)
c.2599T>A (p.Phe867Ile)
c.289T>A (p.Phe97Ile)
c.1634T>A
n.1007A>T
c.2245T>A (p.Phe749Ile)
c.1888T>A (p.Phe630Ile)
n.2946T>A
2g.166277226G>ACA429978393SCN1A-AS1,SCN9Ac.2631C>T (p.Val877=)
c.2598C>T (p.Val866=)
c.288C>T (p.Val96=)
c.1633C>T
n.1008G>A
c.2244C>T (p.Val748=)
c.1887C>T (p.Val629=)
n.2945C>T
ClinVar
2g.166277226G>CCA429978394SCN1A-AS1,SCN9Ac.2631C>G (p.Val877=)
c.2598C>G (p.Val866=)
c.288C>G (p.Val96=)
c.1633C>G
n.1008G>C
c.2244C>G (p.Val748=)
c.1887C>G (p.Val629=)
n.2945C>G
2g.166277226G>TCA429978392SCN1A-AS1,SCN9Ac.2631C>A (p.Val877=)
c.2598C>A (p.Val866=)
c.288C>A (p.Val96=)
c.1633C>A
n.1008G>T
c.2244C>A (p.Val748=)
c.1887C>A (p.Val629=)
n.2945C>A
2g.166277227A=CA1304965259SCN1A-AS1,SCN9Ac.2630T= (p.Val877=)
c.2597T= (p.Val866=)
c.287T= (p.Val96=)
c.1632T=
n.1009A=
c.2243T= (p.Val748=)
c.1886T= (p.Val629=)
n.2944T=
2g.166277227A>CCA349077926SCN1A-AS1,SCN9Ac.2630T>G (p.Val877Gly)
c.2597T>G (p.Val866Gly)
c.287T>G (p.Val96Gly)
c.1632T>G
n.1009A>C
c.2243T>G (p.Val748Gly)
c.1886T>G (p.Val629Gly)
n.2944T>G
ClinVar dbSNP
2g.166277227A>GCA349077925SCN1A-AS1,SCN9Ac.2630T>C (p.Val877Ala)
c.2597T>C (p.Val866Ala)
c.287T>C (p.Val96Ala)
c.1632T>C
n.1009A>G
c.2243T>C (p.Val748Ala)
c.1886T>C (p.Val629Ala)
n.2944T>C
2g.166277227A>TCA349077924SCN1A-AS1,SCN9Ac.2630T>A (p.Val877Asp)
c.2597T>A (p.Val866Asp)
c.287T>A (p.Val96Asp)
c.1632T>A
n.1009A>T
c.2243T>A (p.Val748Asp)
c.1886T>A (p.Val629Asp)
n.2944T>A
2g.166277228C>ACA1944230SCN1A-AS1,SCN9Ac.2629G>T (p.Val877Phe)
c.2596G>T (p.Val866Phe)
c.286G>T (p.Val96Phe)
c.1631G>T
n.1010C>A
c.2242G>T (p.Val748Phe)
c.1885G>T (p.Val629Phe)
n.2943G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277228C=CA1304965272SCN1A-AS1,SCN9Ac.2629G= (p.Val877=)
c.2596G= (p.Val866=)
c.286G= (p.Val96=)
c.1631G=
n.1010C=
c.2242G= (p.Val748=)
c.1885G= (p.Val629=)
n.2943G=
2g.166277228C>GCA349077927SCN1A-AS1,SCN9Ac.2629G>C (p.Val877Leu)
c.2596G>C (p.Val866Leu)
c.286G>C (p.Val96Leu)
c.1631G>C
n.1010C>G
c.2242G>C (p.Val748Leu)
c.1885G>C (p.Val629Leu)
n.2943G>C
gnomAD v4
2g.166277228C>TCA1944229SCN1A-AS1,SCN9Ac.2629G>A (p.Val877Ile)
c.2596G>A (p.Val866Ile)
c.286G>A (p.Val96Ile)
c.1631G>A
n.1010C>T
c.2242G>A (p.Val748Ile)
c.1885G>A (p.Val629Ile)
n.2943G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277229G>ACA1944231SCN1A-AS1,SCN9Ac.2628C>T (p.Ile876=)
c.2595C>T (p.Ile865=)
c.285C>T (p.Ile95=)
c.1630C>T
n.1011G>A
c.2241C>T (p.Ile747=)
c.1884C>T (p.Ile628=)
n.2942C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277229G>CCA349077928SCN1A-AS1,SCN9Ac.2628C>G (p.Ile876Met)
c.2595C>G (p.Ile865Met)
c.285C>G (p.Ile95Met)
c.1630C>G
n.1011G>C
c.2241C>G (p.Ile747Met)
c.1884C>G (p.Ile628Met)
n.2942C>G
2g.166277229G=CA1304965284SCN1A-AS1,SCN9Ac.2628C= (p.Ile876=)
c.2595C= (p.Ile865=)
c.285C= (p.Ile95=)
c.1630C=
n.1011G=
c.2241C= (p.Ile747=)
c.1884C= (p.Ile628=)
n.2942C=
2g.166277229G>TCA429978397SCN1A-AS1,SCN9Ac.2628C>A (p.Ile876=)
c.2595C>A (p.Ile865=)
c.285C>A (p.Ile95=)
c.1630C>A
n.1011G>T
c.2241C>A (p.Ile747=)
c.1884C>A (p.Ile628=)
n.2942C>A
2g.166277230A>CCA349077929SCN1A-AS1,SCN9Ac.2627T>G (p.Ile876Ser)
c.2594T>G (p.Ile865Ser)
c.284T>G (p.Ile95Ser)
c.1629T>G
n.1012A>C
c.2240T>G (p.Ile747Ser)
c.1883T>G (p.Ile628Ser)
n.2941T>G
2g.166277230A>GCA349077930SCN1A-AS1,SCN9Ac.2627T>C (p.Ile876Thr)
c.2594T>C (p.Ile865Thr)
c.284T>C (p.Ile95Thr)
c.1629T>C
n.1012A>G
c.2240T>C (p.Ile747Thr)
c.1883T>C (p.Ile628Thr)
n.2941T>C
2g.166277230A>TCA349077931SCN1A-AS1,SCN9Ac.2627T>A (p.Ile876Asn)
c.2594T>A (p.Ile865Asn)
c.284T>A (p.Ile95Asn)
c.1629T>A
n.1012A>T
c.2240T>A (p.Ile747Asn)
c.1883T>A (p.Ile628Asn)
n.2941T>A
2g.166277231T>ACA349077932SCN1A-AS1,SCN9Ac.2626A>T (p.Ile876Phe)
c.2593A>T (p.Ile865Phe)
c.283A>T (p.Ile95Phe)
c.1628A>T
n.1013T>A
c.2239A>T (p.Ile747Phe)
c.1882A>T (p.Ile628Phe)
n.2940A>T
2g.166277231T>CCA349077933SCN1A-AS1,SCN9Ac.2626A>G (p.Ile876Val)
c.2593A>G (p.Ile865Val)
c.283A>G (p.Ile95Val)
c.1628A>G
n.1013T>C
c.2239A>G (p.Ile747Val)
c.1882A>G (p.Ile628Val)
n.2940A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166277231T>GCA349077934SCN1A-AS1,SCN9Ac.2626A>C (p.Ile876Leu)
c.2593A>C (p.Ile865Leu)
c.283A>C (p.Ile95Leu)
c.1628A>C
n.1013T>G
c.2239A>C (p.Ile747Leu)
c.1882A>C (p.Ile628Leu)
n.2940A>C
2g.166277231T=CA1304965288SCN1A-AS1,SCN9Ac.2626A= (p.Ile876=)
c.2593A= (p.Ile865=)
c.283A= (p.Ile95=)
c.1628A=
n.1013T=
c.2239A= (p.Ile747=)
c.1882A= (p.Ile628=)
n.2940A=
2g.166277232G>ACA429978400SCN1A-AS1,SCN9Ac.2625C>T (p.Ile875=)
c.2592C>T (p.Ile864=)
c.282C>T (p.Ile94=)
c.1627C>T
n.1014G>A
c.2238C>T (p.Ile746=)
c.1881C>T (p.Ile627=)
n.2939C>T
COSMIC COSMIC
2g.166277232G>CCA349077935SCN1A-AS1,SCN9Ac.2625C>G (p.Ile875Met)
c.2592C>G (p.Ile864Met)
c.282C>G (p.Ile94Met)
c.1627C>G
n.1014G>C
c.2238C>G (p.Ile746Met)
c.1881C>G (p.Ile627Met)
n.2939C>G
2g.166277232G>TCA429978399SCN1A-AS1,SCN9Ac.2625C>A (p.Ile875=)
c.2592C>A (p.Ile864=)
c.282C>A (p.Ile94=)
c.1627C>A
n.1014G>T
c.2238C>A (p.Ile746=)
c.1881C>A (p.Ile627=)
n.2939C>A
2g.166277233A>CCA349077936SCN1A-AS1,SCN9Ac.2624T>G (p.Ile875Ser)
c.2591T>G (p.Ile864Ser)
c.281T>G (p.Ile94Ser)
c.1626T>G
n.1015A>C
c.2237T>G (p.Ile746Ser)
c.1880T>G (p.Ile627Ser)
n.2938T>G
2g.166277233A>GCA349077938SCN1A-AS1,SCN9Ac.2624T>C (p.Ile875Thr)
c.2591T>C (p.Ile864Thr)
c.281T>C (p.Ile94Thr)
c.1626T>C
n.1015A>G
c.2237T>C (p.Ile746Thr)
c.1880T>C (p.Ile627Thr)
n.2938T>C
COSMIC
2g.166277233A>TCA349077937SCN1A-AS1,SCN9Ac.2624T>A (p.Ile875Asn)
c.2591T>A (p.Ile864Asn)
c.281T>A (p.Ile94Asn)
c.1626T>A
n.1015A>T
c.2237T>A (p.Ile746Asn)
c.1880T>A (p.Ile627Asn)
n.2938T>A
2g.166277234T>ACA349077939SCN1A-AS1,SCN9Ac.2623A>T (p.Ile875Phe)
c.2590A>T (p.Ile864Phe)
c.280A>T (p.Ile94Phe)
c.1625A>T
n.1016T>A
c.2236A>T (p.Ile746Phe)
c.1879A>T (p.Ile627Phe)
n.2937A>T
gnomAD v4
2g.166277234T>CCA349077941SCN1A-AS1,SCN9Ac.2623A>G (p.Ile875Val)
c.2590A>G (p.Ile864Val)
c.280A>G (p.Ile94Val)
c.1625A>G
n.1016T>C
c.2236A>G (p.Ile746Val)
c.1879A>G (p.Ile627Val)
n.2937A>G
gnomAD v4
2g.166277234T>GCA349077940SCN1A-AS1,SCN9Ac.2623A>C (p.Ile875Leu)
c.2590A>C (p.Ile864Leu)
c.280A>C (p.Ile94Leu)
c.1625A>C
n.1016T>G
c.2236A>C (p.Ile746Leu)
c.1879A>C (p.Ile627Leu)
n.2937A>C
2g.166277235G>ACA1944232SCN1A-AS1,SCN9Ac.2622C>T (p.Ala874=)
c.2589C>T (p.Ala863=)
c.279C>T (p.Ala93=)
c.1624C>T
n.1017G>A
c.2235C>T (p.Ala745=)
c.1878C>T (p.Ala626=)
n.2936C>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277235G>CCA429978403SCN1A-AS1,SCN9Ac.2622C>G (p.Ala874=)
c.2589C>G (p.Ala863=)
c.279C>G (p.Ala93=)
c.1624C>G
n.1017G>C
c.2235C>G (p.Ala745=)
c.1878C>G (p.Ala626=)
n.2936C>G
2g.166277235G=CA1304965295SCN1A-AS1,SCN9Ac.2622C= (p.Ala874=)
c.2589C= (p.Ala863=)
c.279C= (p.Ala93=)
c.1624C=
n.1017G=
c.2235C= (p.Ala745=)
c.1878C= (p.Ala626=)
n.2936C=
2g.166277235G>TCA429978404SCN1A-AS1,SCN9Ac.2622C>A (p.Ala874=)
c.2589C>A (p.Ala863=)
c.279C>A (p.Ala93=)
c.1624C>A
n.1017G>T
c.2235C>A (p.Ala745=)
c.1878C>A (p.Ala626=)
n.2936C>A
2g.166277236G>ACA59794752SCN1A-AS1,SCN9Ac.2621C>T (p.Ala874Val)
c.2588C>T (p.Ala863Val)
c.278C>T (p.Ala93Val)
c.1623C>T
n.1018G>A
c.2234C>T (p.Ala745Val)
c.1877C>T (p.Ala626Val)
n.2935C>T
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166277236G>CCA349077942SCN1A-AS1,SCN9Ac.2621C>G (p.Ala874Gly)
c.2588C>G (p.Ala863Gly)
c.278C>G (p.Ala93Gly)
c.1623C>G
n.1018G>C
c.2234C>G (p.Ala745Gly)
c.1877C>G (p.Ala626Gly)
n.2935C>G
2g.166277236G=CA1304965300SCN1A-AS1,SCN9Ac.2621C= (p.Ala874=)
c.2588C= (p.Ala863=)
c.278C= (p.Ala93=)
c.1623C=
n.1018G=
c.2234C= (p.Ala745=)
c.1877C= (p.Ala626=)
n.2935C=
2g.166277236G>TCA349077943SCN1A-AS1,SCN9Ac.2621C>A (p.Ala874Asp)
c.2588C>A (p.Ala863Asp)
c.278C>A (p.Ala93Asp)
c.1623C>A
n.1018G>T
c.2234C>A (p.Ala745Asp)
c.1877C>A (p.Ala626Asp)
n.2935C>A
2g.166277237C>ACA1944233SCN1A-AS1,SCN9Ac.2620G>T (p.Ala874Ser)
c.2587G>T (p.Ala863Ser)
c.277G>T (p.Ala93Ser)
c.1622G>T
n.1019C>A
c.2233G>T (p.Ala745Ser)
c.1876G>T (p.Ala626Ser)
n.2934G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277237C=CA1304965311SCN1A-AS1,SCN9Ac.2620G= (p.Ala874=)
c.2587G= (p.Ala863=)
c.277G= (p.Ala93=)
c.1622G=
n.1019C=
c.2233G= (p.Ala745=)
c.1876G= (p.Ala626=)
n.2934G=
2g.166277237C>GCA341936SCN1A-AS1,SCN9Ac.2620G>C (p.Ala874Pro)
c.2587G>C (p.Ala863Pro)
c.277G>C (p.Ala93Pro)
c.1622G>C
n.1019C>G
c.2233G>C (p.Ala745Pro)
c.1876G>C (p.Ala626Pro)
n.2934G>C
ClinVar dbSNP
2g.166277237C>TCA349077944SCN1A-AS1,SCN9Ac.2620G>A (p.Ala874Thr)
c.2587G>A (p.Ala863Thr)
c.277G>A (p.Ala93Thr)
c.1622G>A
n.1019C>T
c.2233G>A (p.Ala745Thr)
c.1876G>A (p.Ala626Thr)
n.2934G>A
dbSNP

Number of alleles fetched