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

Number of alleles fetched