Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166277137C>A | CA349077722 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277137C= | CA1304964965 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277137C>G | CA349077721 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277137C>T | CA59794605 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277138G>A | CA1944214 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277138G>C | CA349077723 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277138G= | CA1304964971 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277138G>T | CA429978270 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277139T>A | CA429978272 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277139T>C | CA429978274 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277139T>G | CA429978275 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277140G>A | CA349077724 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277140G>C | CA349077725 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277140G>T | CA349077726 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277141G>A | CA349077727 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277141G>C | CA349077728 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277141G= | CA1304964979 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277141G>T | CA349077729 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277142G>A | CA429978276 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277142G>C | CA429978279 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277142G>T | CA429978278 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277143A= | CA1304964982 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277143A>C | CA349077730 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277143A>G | CA349077731 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277143A>T | CA349077732 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277144G>A | CA349077735 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277144G>C | CA349077734 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277144G>T | CA349077733 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277145C>A | CA429978281 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277145C= | CA1304964986 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277145C>G | CA1944216 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277145C>T | CA1944215 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277146G>A | CA1944217 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277146G>C | CA349077736 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277146G= | CA1304964995 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277146G>T | CA349077737 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277147T>A | CA349077738 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277147T>C | CA349077739 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277147T>G | CA349077740 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277147_166277148delinsTA | CA1304965007 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277148del | CA1139657336 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277148A>C | CA349077741 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277148A>G | CA429978288 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277148A>T | CA349077742 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277149C>A | CA349077743 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277149C>G | CA349077744 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277149C>T | CA349077745 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277150A= | CA1304965015 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277150A>C | CA349077748 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277150A>G | CA349077746 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277150A>T | CA349077747 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277151G>A | CA429978291 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277151G>C | CA349077749 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277151G>T | CA349077750 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277152T>A | CA349077751 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277152T>C | CA349077752 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277152T>G | CA349077753 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277156_166277158del | CA2661767151 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277153C>A | CA349077754 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277153C= | CA1304965022 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277153C>G | CA349077755 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277153C>T | CA349077756 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277154A>C | CA349077757 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277154A>G | CA429978297 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277154A>T | CA349077758 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277155T>A | CA349077759 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277155T>C | CA349077760 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277155T>G | CA349077761 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277156C>A | CA349077763 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277156C= | CA1304965025 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277156C>G | CA349077764 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277156C>T | CA349077762 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277157A= | CA1304965031 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277157A>C | CA349077765 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277157A>G | CA1944218 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277157A>T | CA349077766 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277158T>A | CA349077767 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277158T>C | CA349077768 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277158T>G | CA349077769 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277158T= | CA1304965034 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277159T>A | CA349077770 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277159T>C | CA349077771 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277159T>G | CA349077772 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277159T= | CA1304965042 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277160G>A | CA429978304 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277160G>C | CA349077773 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277160G>T | CA429978307 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277161A>C | CA349077776 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277161A>G | CA349077774 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277161A>T | CA349077775 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277162T>A | CA59794630 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277162T>C | CA349077777 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277162T>G | CA349077778 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277162T= | CA1304965052 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277163C>A | CA349077779 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277163C>G | CA349077780 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277163C>T | CA429978310 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277164T>A | CA349077781 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277164T>C | CA349077783 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277164T>G | CA349077782 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277165T>A | CA349077784 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277165T>C | CA349077785 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277165T>G | CA349077786 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277166G>A | CA16610178 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277166G>C | CA349077787 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277166G= | CA1304965057 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277166G>T | CA349077788 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277167C>A | CA349077789 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277167C>G | CA349077790 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277167C>T | CA349077791 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277168A>C | CA349077792 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277168A>G | CA349077793 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277168A>T | CA349077794 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277169G>A | CA429978314 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277169G>C | CA429978316 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277169G>T | CA429978317 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277170A>C | CA349077795 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277170A>G | CA349077797 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277170A>T | CA349077796 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277171C>A | CA349077798 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277171C= | CA1304965064 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277171C>G | CA349077799 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277171C>T | CA349077800 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277172A= | CA1304965068 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277172A>C | CA349077801 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277172A>G | CA429978320 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277172A>T | CA349077802 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277173C>A | CA349077803 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277173C>G | CA349077804 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277173C>T | CA349077805 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277174A= | CA1304965074 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277174A>C | CA349077806 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277174A>G | CA1944219 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277174A>T | CA349077807 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277175T>A | CA349077808 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277175T>C | CA429978325 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277175T>G | CA349077809 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277175T= | CA1304965078 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277176T>A | CA349077810 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277176T>C | CA349077812 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277176T>G | CA349077811 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277177C>A | CA349077813 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277177C>G | CA349077814 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277177C>T | CA349077815 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277178T>A | CA349077816 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277178T>C | CA429978327 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277178T>G | CA349077817 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277179T>A | CA349077818 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277179T>C | CA59794652 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277179T>G | CA349077819 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277179T= | CA1304965086 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277180T>A | CA349077820 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277180T>C | CA349077821 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277180T>G | CA349077822 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277181G>A | CA59794658 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277181G>C | CA349077823 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277181G= | CA1304965094 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277181G>T | CA349077824 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277182T>A | CA349077825 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277182T>C | CA349077826 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277182T>G | CA349077827 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277182T= | CA1304965103 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277183A>C | CA349077828 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277183A>G | CA349077829 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277183A>T | CA349077830 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277184G>A | CA429978334 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277184G>C | CA349077831 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277184G>T | CA349077832 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277185C>A | CA349077833 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277185C>G | CA349077834 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277185C>T | CA349077835 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277186T>A | CA349077836 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277186T>C | CA1944220 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277186T>G | CA349077837 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277186T= | CA1304965108 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277187C>A | CA349077839 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277187C>G | CA349077838 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277187C>T | CA429978338 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277188T>A | CA349077840 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277188T>C | CA349077841 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277188T>G | CA349077842 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277189T>A | CA349077843 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277189T>C | CA349077844 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277189T>G | CA349077845 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277190A>C | CA429978340 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277190A>G | CA429978341 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277190A>T | CA429978342 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277190dup | CA2499215221 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277191_166277194del | CA2753031906 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277191C>A | CA1944221 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277191C= | CA1304965114 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277191C>G | CA349077846 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277191C>T | CA349077847 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277192C>A | CA349077848 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277192C>G | CA349077849 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277192C>T | CA349077850 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277193A= | CA1304965122 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277193A>C | CA349077851 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277193A>G | CA429978345 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277193A>T | CA349077852 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277193_166277194insTGGT | CA2753031907 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277194A>C | CA349077853 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277194A>G | CA349077855 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277194A>T | CA349077854 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277195A>C | CA349077856 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277195A>G | CA349077857 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277195A>T | CA349077858 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277196G>A | CA429978350 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277196G>C | CA429978351 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277196G>T | CA429978352 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277197A>C | CA349077859 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277197A>G | CA349077860 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277197A>T | CA349077861 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277198G>A | CA59794669 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277198G>C | CA349077862 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277198G= | CA1304965129 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277198G>T | CA349077863 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277199C>A | CA349077864 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277199C>G | CA349077865 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277199C>T | CA429978358 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277200T>A | CA349077868 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277200T>C | CA349077867 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277200T>G | CA349077866 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277201G>A | CA349077869 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277201G>C | CA349077870 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277201G>T | CA349077871 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277202C>A | CA349077872 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277202C= | CA1304965138 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277202C>G | CA349077873 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277202C>T | CA349077874 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277203A= | CA1304965149 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277203A>C | CA349077875 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277203A>G | CA349077876 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277203A>T | CA349077877 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277204T>A | CA349077878 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277204T>C | CA349077879 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277204T>G | CA349077880 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277204T= | CA1304965153 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277205G>A | CA1944222 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277205G>C | CA429978368 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277205G= | CA1304965159 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277205G>T | CA429978366 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277206C>A | CA349077882 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277206C>G | CA349077883 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277206C>T | CA349077881 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277207C>A | CA349077885 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277207C= | CA1304965171 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277207C>G | CA349077884 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277207C>T | CA1944223 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277208G>A | CA1944225 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277208G>C | CA1944224 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277208G= | CA1304965186 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277208G>T | CA429978371 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277209A= | CA1304965208 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277209A>C | CA349077886 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277209A>G | CA349077887 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277209A>T | CA349077888 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277210C>A | CA1944226 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277210C= | CA1304965212 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277210C>G | CA349077889 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277210C>T | CA349077890 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277211C>A | CA429978376 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277211C>G | CA429978378 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277211C>T | CA429978377 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277212A>C | CA349077891 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277212A>G | CA349077892 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277212A>T | CA349077893 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277213C>A | CA349077895 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277213C= | CA1304965217 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277213C>G | CA349077896 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277213C>T | CA349077894 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277214A>C | CA429978379 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277214A>G | CA429978380 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277214A>T | CA429978381 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277215G>A | CA59794736 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277215G>C | CA349077897 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277215G= | CA1304965224 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277215G>T | CA349077898 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277216C>A | CA349077899 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277216C>G | CA349077900 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277216C>T | CA349077901 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277217A>C | CA349077902 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277217A>G | CA429978383 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277217A>T | CA349077903 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277221del | CA645519734 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277218A>C | CA349077904 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277218A>G | CA349077905 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277218A>T | CA349077906 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277219A>C | CA349077907 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277219A>G | CA349077908 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277219A>T | CA349077909 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277220A>C | CA349077910 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277220A>G | CA429978385 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277220A>T | CA429978387 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277221A= | CA1304965233 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277221A>C | CA349077911 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277221A>G | CA1944227 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277221A>T | CA349077912 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277222T>A | CA349077913 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277222T>C | CA349077914 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277222T>G | CA349077915 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277223G>A | CA1944228 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277223G>C | CA349077916 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277223G= | CA1304965241 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277223G>T | CA349077917 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277224A= | CA1304965249 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277224A>C | CA349077918 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277224A>G | CA349077919 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277224A>T | CA349077920 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277225A>C | CA349077921 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277225A>G | CA349077922 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277225A>T | CA349077923 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277226G>A | CA429978393 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277226G>C | CA429978394 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277226G>T | CA429978392 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277227A= | CA1304965259 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277227A>C | CA349077926 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277227A>G | CA349077925 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277227A>T | CA349077924 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277228C>A | CA1944230 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277228C= | CA1304965272 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277228C>G | CA349077927 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277228C>T | CA1944229 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277229G>A | CA1944231 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277229G>C | CA349077928 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277229G= | CA1304965284 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277229G>T | CA429978397 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277230A>C | CA349077929 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277230A>G | CA349077930 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277230A>T | CA349077931 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277231T>A | CA349077932 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277231T>C | CA349077933 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277231T>G | CA349077934 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277231T= | CA1304965288 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277232G>A | CA429978400 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277232G>C | CA349077935 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277232G>T | CA429978399 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277233A>C | CA349077936 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277233A>G | CA349077938 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277233A>T | CA349077937 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277234T>A | CA349077939 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277234T>C | CA349077941 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277234T>G | CA349077940 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277235G>A | CA1944232 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277235G>C | CA429978403 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277235G= | CA1304965295 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277235G>T | CA429978404 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277236G>A | CA59794752 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277236G>C | CA349077942 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277236G= | CA1304965300 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277236G>T | CA349077943 | SCN1A-AS1,SCN9A | c.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 | |
2 | g.166277237C>A | CA1944233 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277237C= | CA1304965311 | SCN1A-AS1,SCN9A | c.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= | |
2 | g.166277237C>G | CA341936 | SCN1A-AS1,SCN9A | c.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 |
2 | g.166277237C>T | CA349077944 | SCN1A-AS1,SCN9A | c.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 |