Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166272536C>A | CA349073124 | SCN1A-AS1,SCN9A | c.3214G>T (p.Glu1072Ter) c.214G>T (p.Glu72Ter) c.3181G>T (p.Glu1061Ter) c.1877-38G>T n.870-4552C>A c.2827G>T (p.Glu943Ter) c.2470G>T (p.Glu824Ter) | dbSNP |
2 | g.166272536C= | CA1304962733 | SCN1A-AS1,SCN9A | c.3214G= (p.Glu1072=) c.214G= (p.Glu72=) c.3181G= (p.Glu1061=) c.1877-38G= n.870-4552C= c.2827G= (p.Glu943=) c.2470G= (p.Glu824=) | |
2 | g.166272536C>G | CA349073126 | SCN1A-AS1,SCN9A | c.3214G>C (p.Glu1072Gln) c.214G>C (p.Glu72Gln) c.3181G>C (p.Glu1061Gln) c.1877-38G>C n.870-4552C>G c.2827G>C (p.Glu943Gln) c.2470G>C (p.Glu824Gln) | |
2 | g.166272536C>T | CA349073128 | SCN1A-AS1,SCN9A | c.3214G>A (p.Glu1072Lys) c.214G>A (p.Glu72Lys) c.3181G>A (p.Glu1061Lys) c.1877-38G>A n.870-4552C>T c.2827G>A (p.Glu943Lys) c.2470G>A (p.Glu824Lys) | COSMIC COSMIC |
2 | g.166272537C>A | CA349073135 | SCN1A-AS1,SCN9A | c.3213G>T (p.Met1071Ile) c.213G>T (p.Met71Ile) c.3180G>T (p.Met1060Ile) c.1877-39G>T n.870-4551C>A c.2826G>T (p.Met942Ile) c.2469G>T (p.Met823Ile) | dbSNP |
2 | g.166272537C>G | CA349073134 | SCN1A-AS1,SCN9A | c.3213G>C (p.Met1071Ile) c.213G>C (p.Met71Ile) c.3180G>C (p.Met1060Ile) c.1877-39G>C n.870-4551C>G c.2826G>C (p.Met942Ile) c.2469G>C (p.Met823Ile) | |
2 | g.166272537C>T | CA349073131 | SCN1A-AS1,SCN9A | c.3213G>A (p.Met1071Ile) c.213G>A (p.Met71Ile) c.3180G>A (p.Met1060Ile) c.1877-39G>A n.870-4551C>T c.2826G>A (p.Met942Ile) c.2469G>A (p.Met823Ile) | |
2 | g.166272538A= | CA1304962734 | SCN1A-AS1,SCN9A | c.3212T= (p.Met1071=) c.212T= (p.Met71=) c.3179T= (p.Met1060=) c.1877-40T= n.870-4550A= c.2825T= (p.Met942=) c.2468T= (p.Met823=) | |
2 | g.166272538A>C | CA349073136 | SCN1A-AS1,SCN9A | c.3212T>G (p.Met1071Arg) c.212T>G (p.Met71Arg) c.3179T>G (p.Met1060Arg) c.1877-40T>G n.870-4550A>C c.2825T>G (p.Met942Arg) c.2468T>G (p.Met823Arg) | ClinVar dbSNP |
2 | g.166272538A>G | CA1944122 | SCN1A-AS1,SCN9A | c.3212T>C (p.Met1071Thr) c.212T>C (p.Met71Thr) c.3179T>C (p.Met1060Thr) c.1877-40T>C n.870-4550A>G c.2825T>C (p.Met942Thr) c.2468T>C (p.Met823Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272538A>T | CA349073141 | SCN1A-AS1,SCN9A | c.3212T>A (p.Met1071Lys) c.212T>A (p.Met71Lys) c.3179T>A (p.Met1060Lys) c.1877-40T>A n.870-4550A>T c.2825T>A (p.Met942Lys) c.2468T>A (p.Met823Lys) | ClinVar dbSNP |
2 | g.166272538_166272540delinsATC | CA1304962735 | SCN1A-AS1,SCN9A | c.3210_3212delinsGAT (p.Leu1070=) c.210_212delinsGAT (p.Leu70=) c.3177_3179delinsGAT (p.Leu1059=) c.1877-42_1877-40delinsGAT n.870-4550_870-4548delinsATC c.2823_2825delinsGAT (p.Leu941=) c.2466_2468delinsGAT (p.Leu822=) | |
2 | g.166272539T>A | CA349073145 | SCN1A-AS1,SCN9A | c.3211A>T (p.Met1071Leu) c.211A>T (p.Met71Leu) c.3178A>T (p.Met1060Leu) c.1877-41A>T n.870-4549T>A c.2824A>T (p.Met942Leu) c.2467A>T (p.Met823Leu) | |
2 | g.166272539T>C | CA349073148 | SCN1A-AS1,SCN9A | c.3211A>G (p.Met1071Val) c.211A>G (p.Met71Val) c.3178A>G (p.Met1060Val) c.1877-41A>G n.870-4549T>C c.2824A>G (p.Met942Val) c.2467A>G (p.Met823Val) | |
2 | g.166272539T>G | CA349073151 | SCN1A-AS1,SCN9A | c.3211A>C (p.Met1071Leu) c.211A>C (p.Met71Leu) c.3178A>C (p.Met1060Leu) c.1877-41A>C n.870-4549T>G c.2824A>C (p.Met942Leu) c.2467A>C (p.Met823Leu) | |
2 | g.166272539_166272540del | CA537649350 | SCN1A-AS1,SCN9A | c.3210_3211del (p.Leu1070PhefsTer5) c.210_211del (p.Leu70PhefsTer5) c.3177_3178del (p.Leu1059PhefsTer5) c.1877-42_1877-41del n.870-4549_870-4548del c.2823_2824del (p.Leu941PhefsTer5) c.2466_2467del (p.Leu822PhefsTer5) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272539_166272541delinsAAG | CA2740095849 | SCN1A-AS1,SCN9A | c.3209_3211delinsCTT (p.Leu1070_Met1071delinsSerLeu) c.209_211delinsCTT (p.Leu70_Met71delinsSerLeu) c.3176_3178delinsCTT (p.Leu1059_Met1060delinsSerLeu) c.1877-43_1877-41delinsCTT n.870-4549_870-4547delinsAAG c.2822_2824delinsCTT (p.Leu941_Met942delinsSerLeu) c.2465_2467delinsCTT (p.Leu822_Met823delinsSerLeu) | ClinVar |
2 | g.166272540C>A | CA349073153 | SCN1A-AS1,SCN9A | c.3210G>T (p.Leu1070Phe) c.210G>T (p.Leu70Phe) c.3177G>T (p.Leu1059Phe) c.1877-42G>T n.870-4548C>A c.2823G>T (p.Leu941Phe) c.2466G>T (p.Leu822Phe) | |
2 | g.166272540C= | CA1304962736 | SCN1A-AS1,SCN9A | c.3210G= (p.Leu1070=) c.210G= (p.Leu70=) c.3177G= (p.Leu1059=) c.1877-42G= n.870-4548C= c.2823G= (p.Leu941=) c.2466G= (p.Leu822=) | |
2 | g.166272540C>G | CA349073154 | SCN1A-AS1,SCN9A | c.3210G>C (p.Leu1070Phe) c.210G>C (p.Leu70Phe) c.3177G>C (p.Leu1059Phe) c.1877-42G>C n.870-4548C>G c.2823G>C (p.Leu941Phe) c.2466G>C (p.Leu822Phe) | dbSNP gnomAD v4 |
2 | g.166272540C>T | CA1944123 | SCN1A-AS1,SCN9A | c.3210G>A (p.Leu1070=) c.210G>A (p.Leu70=) c.3177G>A (p.Leu1059=) c.1877-42G>A n.870-4548C>T c.2823G>A (p.Leu941=) c.2466G>A (p.Leu822=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272541A= | CA1304962737 | SCN1A-AS1,SCN9A | c.3209T= (p.Leu1070=) c.209T= (p.Leu70=) c.3176T= (p.Leu1059=) c.1877-43T= n.870-4547A= c.2822T= (p.Leu941=) c.2465T= (p.Leu822=) | |
2 | g.166272541A>C | CA349073155 | SCN1A-AS1,SCN9A | c.3209T>G (p.Leu1070Trp) c.209T>G (p.Leu70Trp) c.3176T>G (p.Leu1059Trp) c.1877-43T>G n.870-4547A>C c.2822T>G (p.Leu941Trp) c.2465T>G (p.Leu822Trp) | |
2 | g.166272541A>G | CA1944124 | SCN1A-AS1,SCN9A | c.3209T>C (p.Leu1070Ser) c.209T>C (p.Leu70Ser) c.3176T>C (p.Leu1059Ser) c.1877-43T>C n.870-4547A>G c.2822T>C (p.Leu941Ser) c.2465T>C (p.Leu822Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272541A>T | CA349073157 | SCN1A-AS1,SCN9A | c.3209T>A (p.Leu1070Ter) c.209T>A (p.Leu70Ter) c.3176T>A (p.Leu1059Ter) c.1877-43T>A n.870-4547A>T c.2822T>A (p.Leu941Ter) c.2465T>A (p.Leu822Ter) | dbSNP |
2 | g.166272542A= | CA1304962738 | SCN1A-AS1,SCN9A | c.3208T= (p.Leu1070=) c.208T= (p.Leu70=) c.3175T= (p.Leu1059=) c.1877-44T= n.870-4546A= c.2821T= (p.Leu941=) c.2464T= (p.Leu822=) | |
2 | g.166272542A>C | CA349073159 | SCN1A-AS1,SCN9A | c.3208T>G (p.Leu1070Val) c.208T>G (p.Leu70Val) c.3175T>G (p.Leu1059Val) c.1877-44T>G n.870-4546A>C c.2821T>G (p.Leu941Val) c.2464T>G (p.Leu822Val) | |
2 | g.166272542A>G | CA429977991 | SCN1A-AS1,SCN9A | c.3208T>C (p.Leu1070=) c.208T>C (p.Leu70=) c.3175T>C (p.Leu1059=) c.1877-44T>C n.870-4546A>G c.2821T>C (p.Leu941=) c.2464T>C (p.Leu822=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272542A>T | CA349073162 | SCN1A-AS1,SCN9A | c.3208T>A (p.Leu1070Met) c.208T>A (p.Leu70Met) c.3175T>A (p.Leu1059Met) c.1877-44T>A n.870-4546A>T c.2821T>A (p.Leu941Met) c.2464T>A (p.Leu822Met) | |
2 | g.166272542_166272543dup | CA537649353 | SCN1A-AS1,SCN9A | c.3207_3208dup (p.Leu1070SerfsTer2) c.207_208dup (p.Leu70SerfsTer2) c.3174_3175dup (p.Leu1059SerfsTer2) c.1877-45_1877-44dup n.870-4546_870-4545dup c.2820_2821dup (p.Leu941SerfsTer2) c.2463_2464dup (p.Leu822SerfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272543G>A | CA1944125 | SCN1A-AS1,SCN9A | c.3207C>T (p.His1069=) c.207C>T (p.His69=) c.3174C>T (p.His1058=) c.1877-45C>T n.870-4545G>A c.2820C>T (p.His940=) c.2463C>T (p.His821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272543G>C | CA349073170 | SCN1A-AS1,SCN9A | c.3207C>G (p.His1069Gln) c.207C>G (p.His69Gln) c.3174C>G (p.His1058Gln) c.1877-45C>G n.870-4545G>C c.2820C>G (p.His940Gln) c.2463C>G (p.His821Gln) | |
2 | g.166272543G= | CA1304962739 | SCN1A-AS1,SCN9A | c.3207C= (p.His1069=) c.207C= (p.His69=) c.3174C= (p.His1058=) c.1877-45C= n.870-4545G= c.2820C= (p.His940=) c.2463C= (p.His821=) | |
2 | g.166272543G>T | CA349073168 | SCN1A-AS1,SCN9A | c.3207C>A (p.His1069Gln) c.207C>A (p.His69Gln) c.3174C>A (p.His1058Gln) c.1877-45C>A n.870-4545G>T c.2820C>A (p.His940Gln) c.2463C>A (p.His821Gln) | |
2 | g.166272544T>A | CA349073174 | SCN1A-AS1,SCN9A | c.3206A>T (p.His1069Leu) c.206A>T (p.His69Leu) c.3173A>T (p.His1058Leu) c.1877-46A>T n.870-4544T>A c.2819A>T (p.His940Leu) c.2462A>T (p.His821Leu) | |
2 | g.166272544T>C | CA349073176 | SCN1A-AS1,SCN9A | c.3206A>G (p.His1069Arg) c.206A>G (p.His69Arg) c.3173A>G (p.His1058Arg) c.1877-46A>G n.870-4544T>C c.2819A>G (p.His940Arg) c.2462A>G (p.His821Arg) | ClinVar dbSNP |
2 | g.166272544T>G | CA349073178 | SCN1A-AS1,SCN9A | c.3206A>C (p.His1069Pro) c.206A>C (p.His69Pro) c.3173A>C (p.His1058Pro) c.1877-46A>C n.870-4544T>G c.2819A>C (p.His940Pro) c.2462A>C (p.His821Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272544T= | CA1304962740 | SCN1A-AS1,SCN9A | c.3206A= (p.His1069=) c.206A= (p.His69=) c.3173A= (p.His1058=) c.1877-46A= n.870-4544T= c.2819A= (p.His940=) c.2462A= (p.His821=) | |
2 | g.166272545G>A | CA349073181 | SCN1A-AS1,SCN9A | c.3205C>T (p.His1069Tyr) c.205C>T (p.His69Tyr) c.3172C>T (p.His1058Tyr) c.1877-47C>T n.870-4543G>A c.2818C>T (p.His940Tyr) c.2461C>T (p.His821Tyr) | |
2 | g.166272545G>C | CA349073184 | SCN1A-AS1,SCN9A | c.3205C>G (p.His1069Asp) c.205C>G (p.His69Asp) c.3172C>G (p.His1058Asp) c.1877-47C>G n.870-4543G>C c.2818C>G (p.His940Asp) c.2461C>G (p.His821Asp) | |
2 | g.166272545G>T | CA349073186 | SCN1A-AS1,SCN9A | c.3205C>A (p.His1069Asn) c.205C>A (p.His69Asn) c.3172C>A (p.His1058Asn) c.1877-47C>A n.870-4543G>T c.2818C>A (p.His940Asn) c.2461C>A (p.His821Asn) | |
2 | g.166272545dup | CA59791245 | SCN1A-AS1,SCN9A | c.3205dup (p.His1069ProfsTer7) c.205dup (p.His69ProfsTer7) c.3172dup (p.His1058ProfsTer7) c.1877-47dup n.870-4543dup c.2818dup (p.His940ProfsTer7) c.2461dup (p.His821ProfsTer7) | dbSNP |
2 | g.166272545_166272546delinsGT | CA1304962741 | SCN1A-AS1,SCN9A | c.3204_3205delinsAC (p.Lys1068=) c.204_205delinsAC (p.Lys68=) c.3171_3172delinsAC (p.Lys1057=) c.1877-48_1877-47delinsAC n.870-4543_870-4542delinsGT c.2817_2818delinsAC (p.Lys939=) c.2460_2461delinsAC (p.Lys820=) | |
2 | g.166272546T>A | CA349073188 | SCN1A-AS1,SCN9A | c.3204A>T (p.Lys1068Asn) c.204A>T (p.Lys68Asn) c.3171A>T (p.Lys1057Asn) c.1877-48A>T n.870-4542T>A c.2817A>T (p.Lys939Asn) c.2460A>T (p.Lys820Asn) | |
2 | g.166272546T>C | CA429977999 | SCN1A-AS1,SCN9A | c.3204A>G (p.Lys1068=) c.204A>G (p.Lys68=) c.3171A>G (p.Lys1057=) c.1877-48A>G n.870-4542T>C c.2817A>G (p.Lys939=) c.2460A>G (p.Lys820=) | |
2 | g.166272546T>G | CA349073190 | SCN1A-AS1,SCN9A | c.3204A>C (p.Lys1068Asn) c.204A>C (p.Lys68Asn) c.3171A>C (p.Lys1057Asn) c.1877-48A>C n.870-4542T>G c.2817A>C (p.Lys939Asn) c.2460A>C (p.Lys820Asn) | |
2 | g.166272548del | CA915942952 | SCN1A-AS1,SCN9A | c.3204del (p.Lys1068AsnfsTer3) c.204del (p.Lys68AsnfsTer3) c.3171del (p.Lys1057AsnfsTer3) c.1877-48del n.870-4540del c.2817del (p.Lys939AsnfsTer3) c.2460del (p.Lys820AsnfsTer3) | ClinVar dbSNP |
2 | g.166272547T>A | CA349073194 | SCN1A-AS1,SCN9A | c.3203A>T (p.Lys1068Ile) c.203A>T (p.Lys68Ile) c.3170A>T (p.Lys1057Ile) c.1877-49A>T n.870-4541T>A c.2816A>T (p.Lys939Ile) c.2459A>T (p.Lys820Ile) | |
2 | g.166272547T>C | CA349073195 | SCN1A-AS1,SCN9A | c.3203A>G (p.Lys1068Arg) c.203A>G (p.Lys68Arg) c.3170A>G (p.Lys1057Arg) c.1877-49A>G n.870-4541T>C c.2816A>G (p.Lys939Arg) c.2459A>G (p.Lys820Arg) | |
2 | g.166272547T>G | CA349073197 | SCN1A-AS1,SCN9A | c.3203A>C (p.Lys1068Thr) c.203A>C (p.Lys68Thr) c.3170A>C (p.Lys1057Thr) c.1877-49A>C n.870-4541T>G c.2816A>C (p.Lys939Thr) c.2459A>C (p.Lys820Thr) | |
2 | g.166272548T>A | CA349073205 | SCN1A-AS1,SCN9A | c.3202A>T (p.Lys1068Ter) c.202A>T (p.Lys68Ter) c.3169A>T (p.Lys1057Ter) c.1877-50A>T n.870-4540T>A c.2815A>T (p.Lys939Ter) c.2458A>T (p.Lys820Ter) | |
2 | g.166272548T>C | CA349073200 | SCN1A-AS1,SCN9A | c.3202A>G (p.Lys1068Glu) c.202A>G (p.Lys68Glu) c.3169A>G (p.Lys1057Glu) c.1877-50A>G n.870-4540T>C c.2815A>G (p.Lys939Glu) c.2458A>G (p.Lys820Glu) | gnomAD v4 |
2 | g.166272548T>G | CA349073202 | SCN1A-AS1,SCN9A | c.3202A>C (p.Lys1068Gln) c.202A>C (p.Lys68Gln) c.3169A>C (p.Lys1057Gln) c.1877-50A>C n.870-4540T>G c.2815A>C (p.Lys939Gln) c.2458A>C (p.Lys820Gln) | |
2 | g.166272549G>A | CA429978001 | SCN1A-AS1,SCN9A | c.3201C>T (p.Asp1067=) c.201C>T (p.Asp67=) c.3168C>T (p.Asp1056=) c.1877-51C>T n.870-4539G>A c.2814C>T (p.Asp938=) c.2457C>T (p.Asp819=) | |
2 | g.166272549G>C | CA349073207 | SCN1A-AS1,SCN9A | c.3201C>G (p.Asp1067Glu) c.201C>G (p.Asp67Glu) c.3168C>G (p.Asp1056Glu) c.1877-51C>G n.870-4539G>C c.2814C>G (p.Asp938Glu) c.2457C>G (p.Asp819Glu) | |
2 | g.166272549G>T | CA349073210 | SCN1A-AS1,SCN9A | c.3201C>A (p.Asp1067Glu) c.201C>A (p.Asp67Glu) c.3168C>A (p.Asp1056Glu) c.1877-51C>A n.870-4539G>T c.2814C>A (p.Asp938Glu) c.2457C>A (p.Asp819Glu) | |
2 | g.166272550T>A | CA349073214 | SCN1A-AS1,SCN9A | c.3200A>T (p.Asp1067Val) c.200A>T (p.Asp67Val) c.3167A>T (p.Asp1056Val) c.1877-52A>T n.870-4538T>A c.2813A>T (p.Asp938Val) c.2456A>T (p.Asp819Val) | |
2 | g.166272550T>C | CA349073218 | SCN1A-AS1,SCN9A | c.3200A>G (p.Asp1067Gly) c.200A>G (p.Asp67Gly) c.3167A>G (p.Asp1056Gly) c.1877-52A>G n.870-4538T>C c.2813A>G (p.Asp938Gly) c.2456A>G (p.Asp819Gly) | |
2 | g.166272550T>G | CA349073220 | SCN1A-AS1,SCN9A | c.3200A>C (p.Asp1067Ala) c.200A>C (p.Asp67Ala) c.3167A>C (p.Asp1056Ala) c.1877-52A>C n.870-4538T>G c.2813A>C (p.Asp938Ala) c.2456A>C (p.Asp819Ala) | |
2 | g.166272550_166272567delinsTCCACGCTGCTTCCAAAA | CA1304962742 | SCN1A-AS1,SCN9A | c.3183_3200delinsTTTTGGAAGCAGCGTGGA (p.Gly1061=) c.183_200delinsTTTTGGAAGCAGCGTGGA (p.Gly61=) c.3150_3167delinsTTTTGGAAGCAGCGTGGA (p.Gly1050=) c.1877-69_1877-52delinsTTTTGGAAGCAGCGTGGA n.870-4538_870-4521delinsTCCACGCTGCTTCCAAAA c.2796_2813delinsTTTTGGAAGCAGCGTGGA (p.Gly932=) c.2439_2456delinsTTTTGGAAGCAGCGTGGA (p.Gly813=) | |
2 | g.166272551C>A | CA349073224 | SCN1A-AS1,SCN9A | c.3199G>T (p.Asp1067Tyr) c.199G>T (p.Asp67Tyr) c.3166G>T (p.Asp1056Tyr) c.1877-53G>T n.870-4537C>A c.2812G>T (p.Asp938Tyr) c.2455G>T (p.Asp819Tyr) | |
2 | g.166272551C>G | CA349073227 | SCN1A-AS1,SCN9A | c.3199G>C (p.Asp1067His) c.199G>C (p.Asp67His) c.3166G>C (p.Asp1056His) c.1877-53G>C n.870-4537C>G c.2812G>C (p.Asp938His) c.2455G>C (p.Asp819His) | |
2 | g.166272551C>T | CA349073230 | SCN1A-AS1,SCN9A | c.3199G>A (p.Asp1067Asn) c.199G>A (p.Asp67Asn) c.3166G>A (p.Asp1056Asn) c.1877-53G>A n.870-4537C>T c.2812G>A (p.Asp938Asn) c.2455G>A (p.Asp819Asn) | gnomAD v4 |
2 | g.166272555_166272571del | CA760206609 | SCN1A-AS1,SCN9A | c.3183_3199del (p.Phe1062GlnfsTer8) c.183_199del (p.Phe62GlnfsTer8) c.3150_3166del (p.Phe1051GlnfsTer8) c.1877-69_1877-53del n.870-4533_870-4517del c.2796_2812del (p.Phe933GlnfsTer8) c.2439_2455del (p.Phe814GlnfsTer8) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272552C>A | CA429978012 | SCN1A-AS1,SCN9A | c.3198G>T (p.Val1066=) c.198G>T (p.Val66=) c.3165G>T (p.Val1055=) c.1877-54G>T n.870-4536C>A c.2811G>T (p.Val937=) c.2454G>T (p.Val818=) | |
2 | g.166272552C= | CA1304962743 | SCN1A-AS1,SCN9A | c.3198G= (p.Val1066=) c.198G= (p.Val66=) c.3165G= (p.Val1055=) c.1877-54G= n.870-4536C= c.2811G= (p.Val937=) c.2454G= (p.Val818=) | |
2 | g.166272552C>G | CA429978013 | SCN1A-AS1,SCN9A | c.3198G>C (p.Val1066=) c.198G>C (p.Val66=) c.3165G>C (p.Val1055=) c.1877-54G>C n.870-4536C>G c.2811G>C (p.Val937=) c.2454G>C (p.Val818=) | |
2 | g.166272552C>T | CA429978014 | SCN1A-AS1,SCN9A | c.3198G>A (p.Val1066=) c.198G>A (p.Val66=) c.3165G>A (p.Val1055=) c.1877-54G>A n.870-4536C>T c.2811G>A (p.Val937=) c.2454G>A (p.Val818=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272553A>C | CA349073233 | SCN1A-AS1,SCN9A | c.3197T>G (p.Val1066Gly) c.197T>G (p.Val66Gly) c.3164T>G (p.Val1055Gly) c.1877-55T>G n.870-4535A>C c.2810T>G (p.Val937Gly) c.2453T>G (p.Val818Gly) | |
2 | g.166272553A>G | CA349073236 | SCN1A-AS1,SCN9A | c.3197T>C (p.Val1066Ala) c.197T>C (p.Val66Ala) c.3164T>C (p.Val1055Ala) c.1877-55T>C n.870-4535A>G c.2810T>C (p.Val937Ala) c.2453T>C (p.Val818Ala) | gnomAD v4 |
2 | g.166272553A>T | CA349073239 | SCN1A-AS1,SCN9A | c.3197T>A (p.Val1066Glu) c.197T>A (p.Val66Glu) c.3164T>A (p.Val1055Glu) c.1877-55T>A n.870-4535A>T c.2810T>A (p.Val937Glu) c.2453T>A (p.Val818Glu) | |
2 | g.166272554C>A | CA349073243 | SCN1A-AS1,SCN9A | c.3196G>T (p.Val1066Leu) c.196G>T (p.Val66Leu) c.3163G>T (p.Val1055Leu) c.1877-56G>T n.870-4534C>A c.2809G>T (p.Val937Leu) c.2452G>T (p.Val818Leu) | |
2 | g.166272554C= | CA1304962744 | SCN1A-AS1,SCN9A | c.3196G= (p.Val1066=) c.196G= (p.Val66=) c.3163G= (p.Val1055=) c.1877-56G= n.870-4534C= c.2809G= (p.Val937=) c.2452G= (p.Val818=) | |
2 | g.166272554C>G | CA349073246 | SCN1A-AS1,SCN9A | c.3196G>C (p.Val1066Leu) c.196G>C (p.Val66Leu) c.3163G>C (p.Val1055Leu) c.1877-56G>C n.870-4534C>G c.2809G>C (p.Val937Leu) c.2452G>C (p.Val818Leu) | |
2 | g.166272554C>T | CA349073240 | SCN1A-AS1,SCN9A | c.3196G>A (p.Val1066Met) c.196G>A (p.Val66Met) c.3163G>A (p.Val1055Met) c.1877-56G>A n.870-4534C>T c.2809G>A (p.Val937Met) c.2452G>A (p.Val818Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272555G>A | CA155122 | SCN1A-AS1,SCN9A | c.3195C>T (p.Ser1065=) c.195C>T (p.Ser65=) c.3162C>T (p.Ser1054=) c.1877-57C>T n.870-4533G>A c.2808C>T (p.Ser936=) c.2451C>T (p.Ser817=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272555G>C | CA349073252 | SCN1A-AS1,SCN9A | c.3195C>G (p.Ser1065Arg) c.195C>G (p.Ser65Arg) c.3162C>G (p.Ser1054Arg) c.1877-57C>G n.870-4533G>C c.2808C>G (p.Ser936Arg) c.2451C>G (p.Ser817Arg) | |
2 | g.166272555G= | CA1304962745 | SCN1A-AS1,SCN9A | c.3195C= (p.Ser1065=) c.195C= (p.Ser65=) c.3162C= (p.Ser1054=) c.1877-57C= n.870-4533G= c.2808C= (p.Ser936=) c.2451C= (p.Ser817=) | |
2 | g.166272555G>T | CA349073255 | SCN1A-AS1,SCN9A | c.3195C>A (p.Ser1065Arg) c.195C>A (p.Ser65Arg) c.3162C>A (p.Ser1054Arg) c.1877-57C>A n.870-4533G>T c.2808C>A (p.Ser936Arg) c.2451C>A (p.Ser817Arg) | |
2 | g.166272556C>A | CA349073257 | SCN1A-AS1,SCN9A | c.3194G>T (p.Ser1065Ile) c.194G>T (p.Ser65Ile) c.3161G>T (p.Ser1054Ile) c.1877-58G>T n.870-4532C>A c.2807G>T (p.Ser936Ile) c.2450G>T (p.Ser817Ile) | |
2 | g.166272556C= | CA1304962746 | SCN1A-AS1,SCN9A | c.3194G= (p.Ser1065=) c.194G= (p.Ser65=) c.3161G= (p.Ser1054=) c.1877-58G= n.870-4532C= c.2807G= (p.Ser936=) c.2450G= (p.Ser817=) | |
2 | g.166272556C>G | CA349073260 | SCN1A-AS1,SCN9A | c.3194G>C (p.Ser1065Thr) c.194G>C (p.Ser65Thr) c.3161G>C (p.Ser1054Thr) c.1877-58G>C n.870-4532C>G c.2807G>C (p.Ser936Thr) c.2450G>C (p.Ser817Thr) | |
2 | g.166272556C>T | CA349073262 | SCN1A-AS1,SCN9A | c.3194G>A (p.Ser1065Asn) c.194G>A (p.Ser65Asn) c.3161G>A (p.Ser1054Asn) c.1877-58G>A n.870-4532C>T c.2807G>A (p.Ser936Asn) c.2450G>A (p.Ser817Asn) | ClinVar dbSNP COSMIC COSMIC |
2 | g.166272557T>A | CA349073272 | SCN1A-AS1,SCN9A | c.3193A>T (p.Ser1065Cys) c.193A>T (p.Ser65Cys) c.3160A>T (p.Ser1054Cys) c.1877-59A>T n.870-4531T>A c.2806A>T (p.Ser936Cys) c.2449A>T (p.Ser817Cys) | |
2 | g.166272557T>C | CA349073266 | SCN1A-AS1,SCN9A | c.3193A>G (p.Ser1065Gly) c.193A>G (p.Ser65Gly) c.3160A>G (p.Ser1054Gly) c.1877-59A>G n.870-4531T>C c.2806A>G (p.Ser936Gly) c.2449A>G (p.Ser817Gly) | |
2 | g.166272557T>G | CA349073268 | SCN1A-AS1,SCN9A | c.3193A>C (p.Ser1065Arg) c.193A>C (p.Ser65Arg) c.3160A>C (p.Ser1054Arg) c.1877-59A>C n.870-4531T>G c.2806A>C (p.Ser936Arg) c.2449A>C (p.Ser817Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272557T= | CA1304962747 | SCN1A-AS1,SCN9A | c.3193A= (p.Ser1065=) c.193A= (p.Ser65=) c.3160A= (p.Ser1054=) c.1877-59A= n.870-4531T= c.2806A= (p.Ser936=) c.2449A= (p.Ser817=) | |
2 | g.166272558G>A | CA429978023 | SCN1A-AS1,SCN9A | c.3192C>T (p.Ser1064=) c.192C>T (p.Ser64=) c.3159C>T (p.Ser1053=) c.1877-60C>T n.870-4530G>A c.2805C>T (p.Ser935=) c.2448C>T (p.Ser816=) | |
2 | g.166272558G>C | CA349073275 | SCN1A-AS1,SCN9A | c.3192C>G (p.Ser1064Arg) c.192C>G (p.Ser64Arg) c.3159C>G (p.Ser1053Arg) c.1877-60C>G n.870-4530G>C c.2805C>G (p.Ser935Arg) c.2448C>G (p.Ser816Arg) | dbSNP |
2 | g.166272558G= | CA1304962748 | SCN1A-AS1,SCN9A | c.3192C= (p.Ser1064=) c.192C= (p.Ser64=) c.3159C= (p.Ser1053=) c.1877-60C= n.870-4530G= c.2805C= (p.Ser935=) c.2448C= (p.Ser816=) | |
2 | g.166272558G>T | CA349073277 | SCN1A-AS1,SCN9A | c.3192C>A (p.Ser1064Arg) c.192C>A (p.Ser64Arg) c.3159C>A (p.Ser1053Arg) c.1877-60C>A n.870-4530G>T c.2805C>A (p.Ser935Arg) c.2448C>A (p.Ser816Arg) | dbSNP |
2 | g.166272559C>A | CA349073280 | SCN1A-AS1,SCN9A | c.3191G>T (p.Ser1064Ile) c.191G>T (p.Ser64Ile) c.3158G>T (p.Ser1053Ile) c.1877-61G>T n.870-4529C>A c.2804G>T (p.Ser935Ile) c.2447G>T (p.Ser816Ile) | |
2 | g.166272559C= | CA1304962749 | SCN1A-AS1,SCN9A | c.3191G= (p.Ser1064=) c.191G= (p.Ser64=) c.3158G= (p.Ser1053=) c.1877-61G= n.870-4529C= c.2804G= (p.Ser935=) c.2447G= (p.Ser816=) | |
2 | g.166272559C>G | CA1944126 | SCN1A-AS1,SCN9A | c.3191G>C (p.Ser1064Thr) c.191G>C (p.Ser64Thr) c.3158G>C (p.Ser1053Thr) c.1877-61G>C n.870-4529C>G c.2804G>C (p.Ser935Thr) c.2447G>C (p.Ser816Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272559C>T | CA349073285 | SCN1A-AS1,SCN9A | c.3191G>A (p.Ser1064Asn) c.191G>A (p.Ser64Asn) c.3158G>A (p.Ser1053Asn) c.1877-61G>A n.870-4529C>T c.2804G>A (p.Ser935Asn) c.2447G>A (p.Ser816Asn) | |
2 | g.166272560T>A | CA349073289 | SCN1A-AS1,SCN9A | c.3190A>T (p.Ser1064Cys) c.190A>T (p.Ser64Cys) c.3157A>T (p.Ser1053Cys) c.1877-62A>T n.870-4528T>A c.2803A>T (p.Ser935Cys) c.2446A>T (p.Ser816Cys) | |
2 | g.166272560T>C | CA349073292 | SCN1A-AS1,SCN9A | c.3190A>G (p.Ser1064Gly) c.190A>G (p.Ser64Gly) c.3157A>G (p.Ser1053Gly) c.1877-62A>G n.870-4528T>C c.2803A>G (p.Ser935Gly) c.2446A>G (p.Ser816Gly) | |
2 | g.166272560T>G | CA349073290 | SCN1A-AS1,SCN9A | c.3190A>C (p.Ser1064Arg) c.190A>C (p.Ser64Arg) c.3157A>C (p.Ser1053Arg) c.1877-62A>C n.870-4528T>G c.2803A>C (p.Ser935Arg) c.2446A>C (p.Ser816Arg) | gnomAD v4 |
2 | g.166272561T>A | CA429978028 | SCN1A-AS1,SCN9A | c.3189A>T (p.Gly1063=) c.189A>T (p.Gly63=) c.3156A>T (p.Gly1052=) c.1877-63A>T n.870-4527T>A c.2802A>T (p.Gly934=) c.2445A>T (p.Gly815=) | |
2 | g.166272561T>C | CA429978029 | SCN1A-AS1,SCN9A | c.3189A>G (p.Gly1063=) c.189A>G (p.Gly63=) c.3156A>G (p.Gly1052=) c.1877-63A>G n.870-4527T>C c.2802A>G (p.Gly934=) c.2445A>G (p.Gly815=) | |
2 | g.166272561T>G | CA429978030 | SCN1A-AS1,SCN9A | c.3189A>C (p.Gly1063=) c.189A>C (p.Gly63=) c.3156A>C (p.Gly1052=) c.1877-63A>C n.870-4527T>G c.2802A>C (p.Gly934=) c.2445A>C (p.Gly815=) | |
2 | g.166272562C>A | CA349073295 | SCN1A-AS1,SCN9A | c.3188G>T (p.Gly1063Val) c.188G>T (p.Gly63Val) c.3155G>T (p.Gly1052Val) c.1877-64G>T n.870-4526C>A c.2801G>T (p.Gly934Val) c.2444G>T (p.Gly815Val) | |
2 | g.166272562C= | CA1304962750 | SCN1A-AS1,SCN9A | c.3188G= (p.Gly1063=) c.188G= (p.Gly63=) c.3155G= (p.Gly1052=) c.1877-64G= n.870-4526C= c.2801G= (p.Gly934=) c.2444G= (p.Gly815=) | |
2 | g.166272562C>G | CA349073296 | SCN1A-AS1,SCN9A | c.3188G>C (p.Gly1063Ala) c.188G>C (p.Gly63Ala) c.3155G>C (p.Gly1052Ala) c.1877-64G>C n.870-4526C>G c.2801G>C (p.Gly934Ala) c.2444G>C (p.Gly815Ala) | |
2 | g.166272562C>T | CA59791271 | SCN1A-AS1,SCN9A | c.3188G>A (p.Gly1063Glu) c.188G>A (p.Gly63Glu) c.3155G>A (p.Gly1052Glu) c.1877-64G>A n.870-4526C>T c.2801G>A (p.Gly934Glu) c.2444G>A (p.Gly815Glu) | dbSNP |
2 | g.166272563_166272571del | CA2753031797 | SCN1A-AS1,SCN9A | c.3180_3188del (p.Ser1060_Gly1063delinsArg) c.180_188del (p.Ser60_Gly63delinsArg) c.3147_3155del (p.Ser1049_Gly1052delinsArg) c.1877-72_1877-64del n.870-4525_870-4517del c.2793_2801del (p.Ser931_Gly934delinsArg) c.2436_2444del (p.Ser812_Gly815delinsArg) | |
2 | g.166272562_166272573delinsCCAAAACCACTG | CA1304962751 | SCN1A-AS1,SCN9A | c.3177_3188delinsCAGTGGTTTTGG (p.Ile1059=) c.177_188delinsCAGTGGTTTTGG (p.Ile59=) c.3144_3155delinsCAGTGGTTTTGG (p.Ile1048=) c.1877-75_1877-64delinsCAGTGGTTTTGG n.870-4526_870-4515delinsCCAAAACCACTG c.2790_2801delinsCAGTGGTTTTGG (p.Ile930=) c.2433_2444delinsCAGTGGTTTTGG (p.Ile811=) | |
2 | g.166272563C>A | CA349073302 | SCN1A-AS1,SCN9A | c.3187G>T (p.Gly1063Ter) c.187G>T (p.Gly63Ter) c.3154G>T (p.Gly1052Ter) c.1877-65G>T n.870-4525C>A c.2800G>T (p.Gly934Ter) c.2443G>T (p.Gly815Ter) | ClinVar dbSNP |
2 | g.166272563C= | CA1304962753 | SCN1A-AS1,SCN9A | c.3187G= (p.Gly1063=) c.187G= (p.Gly63=) c.3154G= (p.Gly1052=) c.1877-65G= n.870-4525C= c.2800G= (p.Gly934=) c.2443G= (p.Gly815=) | |
2 | g.166272563C>G | CA349073303 | SCN1A-AS1,SCN9A | c.3187G>C (p.Gly1063Arg) c.187G>C (p.Gly63Arg) c.3154G>C (p.Gly1052Arg) c.1877-65G>C n.870-4525C>G c.2800G>C (p.Gly934Arg) c.2443G>C (p.Gly815Arg) | |
2 | g.166272563C>T | CA349073306 | SCN1A-AS1,SCN9A | c.3187G>A (p.Gly1063Arg) c.187G>A (p.Gly63Arg) c.3154G>A (p.Gly1052Arg) c.1877-65G>A n.870-4525C>T c.2800G>A (p.Gly934Arg) c.2443G>A (p.Gly815Arg) | |
2 | g.166272563_166272573del | CA1304962752 | SCN1A-AS1,SCN9A | c.3177_3187del (p.Ile1059MetfsTer13) c.177_187del (p.Ile59MetfsTer13) c.3144_3154del (p.Ile1048MetfsTer13) c.1877-75_1877-65del n.870-4525_870-4515del c.2790_2800del (p.Ile930MetfsTer13) c.2433_2443del (p.Ile811MetfsTer13) | dbSNP |
2 | g.166272564A>C | CA349073309 | SCN1A-AS1,SCN9A | c.3186T>G (p.Phe1062Leu) c.186T>G (p.Phe62Leu) c.3153T>G (p.Phe1051Leu) c.1877-66T>G n.870-4524A>C c.2799T>G (p.Phe933Leu) c.2442T>G (p.Phe814Leu) | |
2 | g.166272564A>G | CA429978032 | SCN1A-AS1,SCN9A | c.3186T>C (p.Phe1062=) c.186T>C (p.Phe62=) c.3153T>C (p.Phe1051=) c.1877-66T>C n.870-4524A>G c.2799T>C (p.Phe933=) c.2442T>C (p.Phe814=) | |
2 | g.166272564A>T | CA349073312 | SCN1A-AS1,SCN9A | c.3186T>A (p.Phe1062Leu) c.186T>A (p.Phe62Leu) c.3153T>A (p.Phe1051Leu) c.1877-66T>A n.870-4524A>T c.2799T>A (p.Phe933Leu) c.2442T>A (p.Phe814Leu) | |
2 | g.166272565A>C | CA349073315 | SCN1A-AS1,SCN9A | c.3185T>G (p.Phe1062Cys) c.185T>G (p.Phe62Cys) c.3152T>G (p.Phe1051Cys) c.1877-67T>G n.870-4523A>C c.2798T>G (p.Phe933Cys) c.2441T>G (p.Phe814Cys) | |
2 | g.166272565A>G | CA349073318 | SCN1A-AS1,SCN9A | c.3185T>C (p.Phe1062Ser) c.185T>C (p.Phe62Ser) c.3152T>C (p.Phe1051Ser) c.1877-67T>C n.870-4523A>G c.2798T>C (p.Phe933Ser) c.2441T>C (p.Phe814Ser) | |
2 | g.166272565A>T | CA349073321 | SCN1A-AS1,SCN9A | c.3185T>A (p.Phe1062Tyr) c.185T>A (p.Phe62Tyr) c.3152T>A (p.Phe1051Tyr) c.1877-67T>A n.870-4523A>T c.2798T>A (p.Phe933Tyr) c.2441T>A (p.Phe814Tyr) | |
2 | g.166272566A>C | CA349073325 | SCN1A-AS1,SCN9A | c.3184T>G (p.Phe1062Val) c.184T>G (p.Phe62Val) c.3151T>G (p.Phe1051Val) c.1877-68T>G n.870-4522A>C c.2797T>G (p.Phe933Val) c.2440T>G (p.Phe814Val) | |
2 | g.166272566A>G | CA349073324 | SCN1A-AS1,SCN9A | c.3184T>C (p.Phe1062Leu) c.184T>C (p.Phe62Leu) c.3151T>C (p.Phe1051Leu) c.1877-68T>C n.870-4522A>G c.2797T>C (p.Phe933Leu) c.2440T>C (p.Phe814Leu) | |
2 | g.166272566A>T | CA349073323 | SCN1A-AS1,SCN9A | c.3184T>A (p.Phe1062Ile) c.184T>A (p.Phe62Ile) c.3151T>A (p.Phe1051Ile) c.1877-68T>A n.870-4522A>T c.2797T>A (p.Phe933Ile) c.2440T>A (p.Phe814Ile) | |
2 | g.166272567A>C | CA429978034 | SCN1A-AS1,SCN9A | c.3183T>G (p.Gly1061=) c.183T>G (p.Gly61=) c.3150T>G (p.Gly1050=) c.1877-69T>G n.870-4521A>C c.2796T>G (p.Gly932=) c.2439T>G (p.Gly813=) | |
2 | g.166272567A>G | CA429978035 | SCN1A-AS1,SCN9A | c.3183T>C (p.Gly1061=) c.183T>C (p.Gly61=) c.3150T>C (p.Gly1050=) c.1877-69T>C n.870-4521A>G c.2796T>C (p.Gly932=) c.2439T>C (p.Gly813=) | |
2 | g.166272567A>T | CA429978036 | SCN1A-AS1,SCN9A | c.3183T>A (p.Gly1061=) c.183T>A (p.Gly61=) c.3150T>A (p.Gly1050=) c.1877-69T>A n.870-4521A>T c.2796T>A (p.Gly932=) c.2439T>A (p.Gly813=) | |
2 | g.166272568C>A | CA349073327 | SCN1A-AS1,SCN9A | c.3182G>T (p.Gly1061Val) c.182G>T (p.Gly61Val) c.3149G>T (p.Gly1050Val) c.1877-70G>T n.870-4520C>A c.2795G>T (p.Gly932Val) c.2438G>T (p.Gly813Val) | |
2 | g.166272568C>G | CA349073340 | SCN1A-AS1,SCN9A | c.3182G>C (p.Gly1061Ala) c.182G>C (p.Gly61Ala) c.3149G>C (p.Gly1050Ala) c.1877-70G>C n.870-4520C>G c.2795G>C (p.Gly932Ala) c.2438G>C (p.Gly813Ala) | |
2 | g.166272568C>T | CA349073337 | SCN1A-AS1,SCN9A | c.3182G>A (p.Gly1061Asp) c.182G>A (p.Gly61Asp) c.3149G>A (p.Gly1050Asp) c.1877-70G>A n.870-4520C>T c.2795G>A (p.Gly932Asp) c.2438G>A (p.Gly813Asp) | ClinVar |
2 | g.166272569C>A | CA349073343 | SCN1A-AS1,SCN9A | c.3181G>T (p.Gly1061Cys) c.181G>T (p.Gly61Cys) c.3148G>T (p.Gly1050Cys) c.1877-71G>T n.870-4519C>A c.2794G>T (p.Gly932Cys) c.2437G>T (p.Gly813Cys) | |
2 | g.166272569C>G | CA349073345 | SCN1A-AS1,SCN9A | c.3181G>C (p.Gly1061Arg) c.181G>C (p.Gly61Arg) c.3148G>C (p.Gly1050Arg) c.1877-71G>C n.870-4519C>G c.2794G>C (p.Gly932Arg) c.2437G>C (p.Gly813Arg) | |
2 | g.166272569C>T | CA349073347 | SCN1A-AS1,SCN9A | c.3181G>A (p.Gly1061Ser) c.181G>A (p.Gly61Ser) c.3148G>A (p.Gly1050Ser) c.1877-71G>A n.870-4519C>T c.2794G>A (p.Gly932Ser) c.2437G>A (p.Gly813Ser) | |
2 | g.166272570A= | CA1304962754 | SCN1A-AS1,SCN9A | c.3180T= (p.Ser1060=) c.180T= (p.Ser60=) c.3147T= (p.Ser1049=) c.1877-72T= n.870-4518A= c.2793T= (p.Ser931=) c.2436T= (p.Ser812=) | |
2 | g.166272570A>C | CA59791272 | SCN1A-AS1,SCN9A | c.3180T>G (p.Ser1060Arg) c.180T>G (p.Ser60Arg) c.3147T>G (p.Ser1049Arg) c.1877-72T>G n.870-4518A>C c.2793T>G (p.Ser931Arg) c.2436T>G (p.Ser812Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.166272570A>G | CA59791277 | SCN1A-AS1,SCN9A | c.3180T>C (p.Ser1060=) c.180T>C (p.Ser60=) c.3147T>C (p.Ser1049=) c.1877-72T>C n.870-4518A>G c.2793T>C (p.Ser931=) c.2436T>C (p.Ser812=) | ClinVar dbSNP gnomAD v4 |
2 | g.166272570A>T | CA349073354 | SCN1A-AS1,SCN9A | c.3180T>A (p.Ser1060Arg) c.180T>A (p.Ser60Arg) c.3147T>A (p.Ser1049Arg) c.1877-72T>A n.870-4518A>T c.2793T>A (p.Ser931Arg) c.2436T>A (p.Ser812Arg) | |
2 | g.166272571C>A | CA349073357 | SCN1A-AS1,SCN9A | c.3179G>T (p.Ser1060Ile) c.179G>T (p.Ser60Ile) c.3146G>T (p.Ser1049Ile) c.1877-73G>T n.870-4517C>A c.2792G>T (p.Ser931Ile) c.2435G>T (p.Ser812Ile) | |
2 | g.166272571C>G | CA349073360 | SCN1A-AS1,SCN9A | c.3179G>C (p.Ser1060Thr) c.179G>C (p.Ser60Thr) c.3146G>C (p.Ser1049Thr) c.1877-73G>C n.870-4517C>G c.2792G>C (p.Ser931Thr) c.2435G>C (p.Ser812Thr) | |
2 | g.166272571C>T | CA349073363 | SCN1A-AS1,SCN9A | c.3179G>A (p.Ser1060Asn) c.179G>A (p.Ser60Asn) c.3146G>A (p.Ser1049Asn) c.1877-73G>A n.870-4517C>T c.2792G>A (p.Ser931Asn) c.2435G>A (p.Ser812Asn) | |
2 | g.166272572T>A | CA349073366 | SCN1A-AS1,SCN9A | c.3178A>T (p.Ser1060Cys) c.178A>T (p.Ser60Cys) c.3145A>T (p.Ser1049Cys) c.1877-74A>T n.870-4516T>A c.2791A>T (p.Ser931Cys) c.2434A>T (p.Ser812Cys) | |
2 | g.166272572T>C | CA349073371 | SCN1A-AS1,SCN9A | c.3178A>G (p.Ser1060Gly) c.178A>G (p.Ser60Gly) c.3145A>G (p.Ser1049Gly) c.1877-74A>G n.870-4516T>C c.2791A>G (p.Ser931Gly) c.2434A>G (p.Ser812Gly) | |
2 | g.166272572T>G | CA349073373 | SCN1A-AS1,SCN9A | c.3178A>C (p.Ser1060Arg) c.178A>C (p.Ser60Arg) c.3145A>C (p.Ser1049Arg) c.1877-74A>C n.870-4516T>G c.2791A>C (p.Ser931Arg) c.2434A>C (p.Ser812Arg) | |
2 | g.166272573G>A | CA429978042 | SCN1A-AS1,SCN9A | c.3177C>T (p.Ile1059=) c.177C>T (p.Ile59=) c.3144C>T (p.Ile1048=) c.1877-75C>T n.870-4515G>A c.2790C>T (p.Ile930=) c.2433C>T (p.Ile811=) | dbSNP |
2 | g.166272573G>C | CA1944127 | SCN1A-AS1,SCN9A | c.3177C>G (p.Ile1059Met) c.177C>G (p.Ile59Met) c.3144C>G (p.Ile1048Met) c.1877-75C>G n.870-4515G>C c.2790C>G (p.Ile930Met) c.2433C>G (p.Ile811Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272573G= | CA1304962755 | SCN1A-AS1,SCN9A | c.3177C= (p.Ile1059=) c.177C= (p.Ile59=) c.3144C= (p.Ile1048=) c.1877-75C= n.870-4515G= c.2790C= (p.Ile930=) c.2433C= (p.Ile811=) | |
2 | g.166272573G>T | CA429978045 | SCN1A-AS1,SCN9A | c.3177C>A (p.Ile1059=) c.177C>A (p.Ile59=) c.3144C>A (p.Ile1048=) c.1877-75C>A n.870-4515G>T c.2790C>A (p.Ile930=) c.2433C>A (p.Ile811=) | |
2 | g.166272573_166272574del | CA2753031798 | SCN1A-AS1,SCN9A | c.3176_3177del (p.Ile1059LysfsTer16) c.176_177del (p.Ile59LysfsTer16) c.3143_3144del (p.Ile1048LysfsTer16) c.1877-76_1877-75del n.870-4515_870-4514del c.2789_2790del (p.Ile930LysfsTer16) c.2432_2433del (p.Ile811LysfsTer16) | |
2 | g.166272574A= | CA1304962756 | SCN1A-AS1,SCN9A | c.3176T= (p.Ile1059=) c.176T= (p.Ile59=) c.3143T= (p.Ile1048=) c.1877-76T= n.870-4514A= c.2789T= (p.Ile930=) c.2432T= (p.Ile811=) | |
2 | g.166272574A>C | CA349073380 | SCN1A-AS1,SCN9A | c.3176T>G (p.Ile1059Ser) c.176T>G (p.Ile59Ser) c.3143T>G (p.Ile1048Ser) c.1877-76T>G n.870-4514A>C c.2789T>G (p.Ile930Ser) c.2432T>G (p.Ile811Ser) | |
2 | g.166272574A>G | CA349073386 | SCN1A-AS1,SCN9A | c.3176T>C (p.Ile1059Thr) c.176T>C (p.Ile59Thr) c.3143T>C (p.Ile1048Thr) c.1877-76T>C n.870-4514A>G c.2789T>C (p.Ile930Thr) c.2432T>C (p.Ile811Thr) | |
2 | g.166272574A>T | CA349073383 | SCN1A-AS1,SCN9A | c.3176T>A (p.Ile1059Asn) c.176T>A (p.Ile59Asn) c.3143T>A (p.Ile1048Asn) c.1877-76T>A n.870-4514A>T c.2789T>A (p.Ile930Asn) c.2432T>A (p.Ile811Asn) | dbSNP |
2 | g.166272575T>A | CA349073388 | SCN1A-AS1,SCN9A | c.3175A>T (p.Ile1059Phe) c.175A>T (p.Ile59Phe) c.3142A>T (p.Ile1048Phe) c.1877-77A>T n.870-4513T>A c.2788A>T (p.Ile930Phe) c.2431A>T (p.Ile811Phe) | |
2 | g.166272575T>C | CA59791289 | SCN1A-AS1,SCN9A | c.3175A>G (p.Ile1059Val) c.175A>G (p.Ile59Val) c.3142A>G (p.Ile1048Val) c.1877-77A>G n.870-4513T>C c.2788A>G (p.Ile930Val) c.2431A>G (p.Ile811Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272575T>G | CA349073392 | SCN1A-AS1,SCN9A | c.3175A>C (p.Ile1059Leu) c.175A>C (p.Ile59Leu) c.3142A>C (p.Ile1048Leu) c.1877-77A>C n.870-4513T>G c.2788A>C (p.Ile930Leu) c.2431A>C (p.Ile811Leu) | |
2 | g.166272575T= | CA1304962757 | SCN1A-AS1,SCN9A | c.3175A= (p.Ile1059=) c.175A= (p.Ile59=) c.3142A= (p.Ile1048=) c.1877-77A= n.870-4513T= c.2788A= (p.Ile930=) c.2431A= (p.Ile811=) | |
2 | g.166272576T>A | CA349073397 | SCN1A-AS1,SCN9A | c.3174A>T (p.Lys1058Asn) c.174A>T (p.Lys58Asn) c.3141A>T (p.Lys1047Asn) c.1877-78A>T n.870-4512T>A c.2787A>T (p.Lys929Asn) c.2430A>T (p.Lys810Asn) | ClinVar dbSNP COSMIC |
2 | g.166272576T>C | CA429978047 | SCN1A-AS1,SCN9A | c.3174A>G (p.Lys1058=) c.174A>G (p.Lys58=) c.3141A>G (p.Lys1047=) c.1877-78A>G n.870-4512T>C c.2787A>G (p.Lys929=) c.2430A>G (p.Lys810=) | |
2 | g.166272576T>G | CA349073399 | SCN1A-AS1,SCN9A | c.3174A>C (p.Lys1058Asn) c.174A>C (p.Lys58Asn) c.3141A>C (p.Lys1047Asn) c.1877-78A>C n.870-4512T>G c.2787A>C (p.Lys929Asn) c.2430A>C (p.Lys810Asn) | gnomAD v4 |
2 | g.166272577T>A | CA349073402 | SCN1A-AS1,SCN9A | c.3173A>T (p.Lys1058Ile) c.173A>T (p.Lys58Ile) c.3140A>T (p.Lys1047Ile) c.1877-79A>T n.870-4511T>A c.2786A>T (p.Lys929Ile) c.2429A>T (p.Lys810Ile) | |
2 | g.166272577T>C | CA349073405 | SCN1A-AS1,SCN9A | c.3173A>G (p.Lys1058Arg) c.173A>G (p.Lys58Arg) c.3140A>G (p.Lys1047Arg) c.1877-79A>G n.870-4511T>C c.2786A>G (p.Lys929Arg) c.2429A>G (p.Lys810Arg) | |
2 | g.166272577T>G | CA349073408 | SCN1A-AS1,SCN9A | c.3173A>C (p.Lys1058Thr) c.173A>C (p.Lys58Thr) c.3140A>C (p.Lys1047Thr) c.1877-79A>C n.870-4511T>G c.2786A>C (p.Lys929Thr) c.2429A>C (p.Lys810Thr) | |
2 | g.166272578T>A | CA349073411 | SCN1A-AS1,SCN9A | c.3172A>T (p.Lys1058Ter) c.172A>T (p.Lys58Ter) c.3139A>T (p.Lys1047Ter) c.1877-80A>T n.870-4510T>A c.2785A>T (p.Lys929Ter) c.2428A>T (p.Lys810Ter) | dbSNP |
2 | g.166272578T>C | CA349073413 | SCN1A-AS1,SCN9A | c.3172A>G (p.Lys1058Glu) c.172A>G (p.Lys58Glu) c.3139A>G (p.Lys1047Glu) c.1877-80A>G n.870-4510T>C c.2785A>G (p.Lys929Glu) c.2428A>G (p.Lys810Glu) | |
2 | g.166272578T>G | CA1944128 | SCN1A-AS1,SCN9A | c.3172A>C (p.Lys1058Gln) c.172A>C (p.Lys58Gln) c.3139A>C (p.Lys1047Gln) c.1877-80A>C n.870-4510T>G c.2785A>C (p.Lys929Gln) c.2428A>C (p.Lys810Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272578T= | CA1304962758 | SCN1A-AS1,SCN9A | c.3172A= (p.Lys1058=) c.172A= (p.Lys58=) c.3139A= (p.Lys1047=) c.1877-80A= n.870-4510T= c.2785A= (p.Lys929=) c.2428A= (p.Lys810=) | |
2 | g.166272579A= | CA1304962759 | SCN1A-AS1,SCN9A | c.3171T= (p.Asp1057=) c.171T= (p.Asp57=) c.3138T= (p.Asp1046=) c.1877-81T= n.870-4509A= c.2784T= (p.Asp928=) c.2427T= (p.Asp809=) | |
2 | g.166272579A>C | CA349073421 | SCN1A-AS1,SCN9A | c.3171T>G (p.Asp1057Glu) c.171T>G (p.Asp57Glu) c.3138T>G (p.Asp1046Glu) c.1877-81T>G n.870-4509A>C c.2784T>G (p.Asp928Glu) c.2427T>G (p.Asp809Glu) | |
2 | g.166272579A>G | CA59791359 | SCN1A-AS1,SCN9A | c.3171T>C (p.Asp1057=) c.171T>C (p.Asp57=) c.3138T>C (p.Asp1046=) c.1877-81T>C n.870-4509A>G c.2784T>C (p.Asp928=) c.2427T>C (p.Asp809=) | dbSNP gnomAD v4 |
2 | g.166272579A>T | CA349073417 | SCN1A-AS1,SCN9A | c.3171T>A (p.Asp1057Glu) c.171T>A (p.Asp57Glu) c.3138T>A (p.Asp1046Glu) c.1877-81T>A n.870-4509A>T c.2784T>A (p.Asp928Glu) c.2427T>A (p.Asp809Glu) | |
2 | g.166272580T>A | CA349073425 | SCN1A-AS1,SCN9A | c.3170A>T (p.Asp1057Val) c.170A>T (p.Asp57Val) c.3137A>T (p.Asp1046Val) c.1877-82A>T n.870-4508T>A c.2783A>T (p.Asp928Val) c.2426A>T (p.Asp809Val) | |
2 | g.166272580T>C | CA349073427 | SCN1A-AS1,SCN9A | c.3170A>G (p.Asp1057Gly) c.170A>G (p.Asp57Gly) c.3137A>G (p.Asp1046Gly) c.1877-82A>G n.870-4508T>C c.2783A>G (p.Asp928Gly) c.2426A>G (p.Asp809Gly) | |
2 | g.166272580T>G | CA349073428 | SCN1A-AS1,SCN9A | c.3170A>C (p.Asp1057Ala) c.170A>C (p.Asp57Ala) c.3137A>C (p.Asp1046Ala) c.1877-82A>C n.870-4508T>G c.2783A>C (p.Asp928Ala) c.2426A>C (p.Asp809Ala) | |
2 | g.166272581C>A | CA349073432 | SCN1A-AS1,SCN9A | c.3169G>T (p.Asp1057Tyr) c.169G>T (p.Asp57Tyr) c.3136G>T (p.Asp1046Tyr) c.1877-83G>T n.870-4507C>A c.2782G>T (p.Asp928Tyr) c.2425G>T (p.Asp809Tyr) | |
2 | g.166272581C= | CA1304962760 | SCN1A-AS1,SCN9A | c.3169G= (p.Asp1057=) c.169G= (p.Asp57=) c.3136G= (p.Asp1046=) c.1877-83G= n.870-4507C= c.2782G= (p.Asp928=) c.2425G= (p.Asp809=) | |
2 | g.166272581C>G | CA349073439 | SCN1A-AS1,SCN9A | c.3169G>C (p.Asp1057His) c.169G>C (p.Asp57His) c.3136G>C (p.Asp1046His) c.1877-83G>C n.870-4507C>G c.2782G>C (p.Asp928His) c.2425G>C (p.Asp809His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272581C>T | CA59791366 | SCN1A-AS1,SCN9A | c.3169G>A (p.Asp1057Asn) c.169G>A (p.Asp57Asn) c.3136G>A (p.Asp1046Asn) c.1877-83G>A n.870-4507C>T c.2782G>A (p.Asp928Asn) c.2425G>A (p.Asp809Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272582T>A | CA59791368 | SCN1A-AS1,SCN9A | c.3168A>T (p.Lys1056Asn) c.168A>T (p.Lys56Asn) c.3135A>T (p.Lys1045Asn) c.1877-84A>T n.870-4506T>A c.2781A>T (p.Lys927Asn) c.2424A>T (p.Lys808Asn) | dbSNP gnomAD v4 |
2 | g.166272582T>C | CA1944129 | SCN1A-AS1,SCN9A | c.3168A>G (p.Lys1056=) c.168A>G (p.Lys56=) c.3135A>G (p.Lys1045=) c.1877-84A>G n.870-4506T>C c.2781A>G (p.Lys927=) c.2424A>G (p.Lys808=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272582T>G | CA349073443 | SCN1A-AS1,SCN9A | c.3168A>C (p.Lys1056Asn) c.168A>C (p.Lys56Asn) c.3135A>C (p.Lys1045Asn) c.1877-84A>C n.870-4506T>G c.2781A>C (p.Lys927Asn) c.2424A>C (p.Lys808Asn) | |
2 | g.166272582T= | CA1304962761 | SCN1A-AS1,SCN9A | c.3168A= (p.Lys1056=) c.168A= (p.Lys56=) c.3135A= (p.Lys1045=) c.1877-84A= n.870-4506T= c.2781A= (p.Lys927=) c.2424A= (p.Lys808=) | |
2 | g.166272586del | CA645519732 | SCN1A-AS1,SCN9A | c.3168del (p.Asp1057IlefsTer14) c.168del (p.Asp57IlefsTer14) c.3135del (p.Asp1046IlefsTer14) c.1877-84del n.870-4502del c.2781del (p.Asp928IlefsTer14) c.2424del (p.Asp809IlefsTer14) | COSMIC COSMIC |
2 | g.166272583T>A | CA349073449 | SCN1A-AS1,SCN9A | c.3167A>T (p.Lys1056Ile) c.167A>T (p.Lys56Ile) c.3134A>T (p.Lys1045Ile) c.1877-85A>T n.870-4505T>A c.2780A>T (p.Lys927Ile) c.2423A>T (p.Lys808Ile) | |
2 | g.166272583T>C | CA1944130 | SCN1A-AS1,SCN9A | c.3167A>G (p.Lys1056Arg) c.167A>G (p.Lys56Arg) c.3134A>G (p.Lys1045Arg) c.1877-85A>G n.870-4505T>C c.2780A>G (p.Lys927Arg) c.2423A>G (p.Lys808Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272583T>G | CA349073452 | SCN1A-AS1,SCN9A | c.3167A>C (p.Lys1056Thr) c.167A>C (p.Lys56Thr) c.3134A>C (p.Lys1045Thr) c.1877-85A>C n.870-4505T>G c.2780A>C (p.Lys927Thr) c.2423A>C (p.Lys808Thr) | |
2 | g.166272583T= | CA1304962762 | SCN1A-AS1,SCN9A | c.3167A= (p.Lys1056=) c.167A= (p.Lys56=) c.3134A= (p.Lys1045=) c.1877-85A= n.870-4505T= c.2780A= (p.Lys927=) c.2423A= (p.Lys808=) | |
2 | g.166272584T>A | CA349073457 | SCN1A-AS1,SCN9A | c.3166A>T (p.Lys1056Ter) c.166A>T (p.Lys56Ter) c.3133A>T (p.Lys1045Ter) c.1877-86A>T n.870-4504T>A c.2779A>T (p.Lys927Ter) c.2422A>T (p.Lys808Ter) | dbSNP COSMIC COSMIC |
2 | g.166272584T>C | CA349073459 | SCN1A-AS1,SCN9A | c.3166A>G (p.Lys1056Glu) c.166A>G (p.Lys56Glu) c.3133A>G (p.Lys1045Glu) c.1877-86A>G n.870-4504T>C c.2779A>G (p.Lys927Glu) c.2422A>G (p.Lys808Glu) | |
2 | g.166272584T>G | CA349073461 | SCN1A-AS1,SCN9A | c.3166A>C (p.Lys1056Gln) c.166A>C (p.Lys56Gln) c.3133A>C (p.Lys1045Gln) c.1877-86A>C n.870-4504T>G c.2779A>C (p.Lys927Gln) c.2422A>C (p.Lys808Gln) | |
2 | g.166272584T= | CA1304962763 | SCN1A-AS1,SCN9A | c.3166A= (p.Lys1056=) c.166A= (p.Lys56=) c.3133A= (p.Lys1045=) c.1877-86A= n.870-4504T= c.2779A= (p.Lys927=) c.2422A= (p.Lys808=) | |
2 | g.166272585T>A | CA349073463 | SCN1A-AS1,SCN9A | c.3165A>T (p.Glu1055Asp) c.165A>T (p.Glu55Asp) c.3132A>T (p.Glu1044Asp) c.1877-87A>T n.870-4503T>A c.2778A>T (p.Glu926Asp) c.2421A>T (p.Glu807Asp) | |
2 | g.166272585T>C | CA59791372 | SCN1A-AS1,SCN9A | c.3165A>G (p.Glu1055=) c.165A>G (p.Glu55=) c.3132A>G (p.Glu1044=) c.1877-87A>G n.870-4503T>C c.2778A>G (p.Glu926=) c.2421A>G (p.Glu807=) | dbSNP gnomAD v4 |
2 | g.166272585T>G | CA349073466 | SCN1A-AS1,SCN9A | c.3165A>C (p.Glu1055Asp) c.165A>C (p.Glu55Asp) c.3132A>C (p.Glu1044Asp) c.1877-87A>C n.870-4503T>G c.2778A>C (p.Glu926Asp) c.2421A>C (p.Glu807Asp) | ClinVar |
2 | g.166272585T= | CA1304962764 | SCN1A-AS1,SCN9A | c.3165A= (p.Glu1055=) c.165A= (p.Glu55=) c.3132A= (p.Glu1044=) c.1877-87A= n.870-4503T= c.2778A= (p.Glu926=) c.2421A= (p.Glu807=) | |
2 | g.166272586T>A | CA349073467 | SCN1A-AS1,SCN9A | c.3164A>T (p.Glu1055Val) c.164A>T (p.Glu55Val) c.3131A>T (p.Glu1044Val) c.1877-88A>T n.870-4502T>A c.2777A>T (p.Glu926Val) c.2420A>T (p.Glu807Val) | |
2 | g.166272586T>C | CA349073468 | SCN1A-AS1,SCN9A | c.3164A>G (p.Glu1055Gly) c.164A>G (p.Glu55Gly) c.3131A>G (p.Glu1044Gly) c.1877-88A>G n.870-4502T>C c.2777A>G (p.Glu926Gly) c.2420A>G (p.Glu807Gly) | gnomAD v4 |
2 | g.166272586T>G | CA349073470 | SCN1A-AS1,SCN9A | c.3164A>C (p.Glu1055Ala) c.164A>C (p.Glu55Ala) c.3131A>C (p.Glu1044Ala) c.1877-88A>C n.870-4502T>G c.2777A>C (p.Glu926Ala) c.2420A>C (p.Glu807Ala) | gnomAD v4 |
2 | g.166272587C>A | CA349073472 | SCN1A-AS1,SCN9A | c.3163G>T (p.Glu1055Ter) c.163G>T (p.Glu55Ter) c.3130G>T (p.Glu1044Ter) c.1877-89G>T n.870-4501C>A c.2776G>T (p.Glu926Ter) c.2419G>T (p.Glu807Ter) | dbSNP |
2 | g.166272587C= | CA1304962765 | SCN1A-AS1,SCN9A | c.3163G= (p.Glu1055=) c.163G= (p.Glu55=) c.3130G= (p.Glu1044=) c.1877-89G= n.870-4501C= c.2776G= (p.Glu926=) c.2419G= (p.Glu807=) | |
2 | g.166272587C>G | CA349073474 | SCN1A-AS1,SCN9A | c.3163G>C (p.Glu1055Gln) c.163G>C (p.Glu55Gln) c.3130G>C (p.Glu1044Gln) c.1877-89G>C n.870-4501C>G c.2776G>C (p.Glu926Gln) c.2419G>C (p.Glu807Gln) | |
2 | g.166272587C>T | CA349073483 | SCN1A-AS1,SCN9A | c.3163G>A (p.Glu1055Lys) c.163G>A (p.Glu55Lys) c.3130G>A (p.Glu1044Lys) c.1877-89G>A n.870-4501C>T c.2776G>A (p.Glu926Lys) c.2419G>A (p.Glu807Lys) | ClinVar dbSNP COSMIC COSMIC |
2 | g.166272588C>A | CA349073488 | SCN1A-AS1,SCN9A | c.3162G>T (p.Lys1054Asn) c.162G>T (p.Lys54Asn) c.3129G>T (p.Lys1043Asn) c.1877-90G>T n.870-4500C>A c.2775G>T (p.Lys925Asn) c.2418G>T (p.Lys806Asn) | |
2 | g.166272588C= | CA1304962766 | SCN1A-AS1,SCN9A | c.3162G= (p.Lys1054=) c.162G= (p.Lys54=) c.3129G= (p.Lys1043=) c.1877-90G= n.870-4500C= c.2775G= (p.Lys925=) c.2418G= (p.Lys806=) | |
2 | g.166272588C>G | CA59791394 | SCN1A-AS1,SCN9A | c.3162G>C (p.Lys1054Asn) c.162G>C (p.Lys54Asn) c.3129G>C (p.Lys1043Asn) c.1877-90G>C n.870-4500C>G c.2775G>C (p.Lys925Asn) c.2418G>C (p.Lys806Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272588C>T | CA429978065 | SCN1A-AS1,SCN9A | c.3162G>A (p.Lys1054=) c.162G>A (p.Lys54=) c.3129G>A (p.Lys1043=) c.1877-90G>A n.870-4500C>T c.2775G>A (p.Lys925=) c.2418G>A (p.Lys806=) | dbSNP COSMIC COSMIC |
2 | g.166272589T>A | CA349073493 | SCN1A-AS1,SCN9A | c.3161A>T (p.Lys1054Met) c.161A>T (p.Lys54Met) c.3128A>T (p.Lys1043Met) c.1877-91A>T n.870-4499T>A c.2774A>T (p.Lys925Met) c.2417A>T (p.Lys806Met) | |
2 | g.166272589T>C | CA349073502 | SCN1A-AS1,SCN9A | c.3161A>G (p.Lys1054Arg) c.161A>G (p.Lys54Arg) c.3128A>G (p.Lys1043Arg) c.1877-91A>G n.870-4499T>C c.2774A>G (p.Lys925Arg) c.2417A>G (p.Lys806Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272589T>G | CA349073503 | SCN1A-AS1,SCN9A | c.3161A>C (p.Lys1054Thr) c.161A>C (p.Lys54Thr) c.3128A>C (p.Lys1043Thr) c.1877-91A>C n.870-4499T>G c.2774A>C (p.Lys925Thr) c.2417A>C (p.Lys806Thr) | |
2 | g.166272589T= | CA1304962767 | SCN1A-AS1,SCN9A | c.3161A= (p.Lys1054=) c.161A= (p.Lys54=) c.3128A= (p.Lys1043=) c.1877-91A= n.870-4499T= c.2774A= (p.Lys925=) c.2417A= (p.Lys806=) | |
2 | g.166272590T>A | CA349073504 | SCN1A-AS1,SCN9A | c.3160A>T (p.Lys1054Ter) c.160A>T (p.Lys54Ter) c.3127A>T (p.Lys1043Ter) c.1877-92A>T n.870-4498T>A c.2773A>T (p.Lys925Ter) c.2416A>T (p.Lys806Ter) | dbSNP |
2 | g.166272590T>C | CA349073507 | SCN1A-AS1,SCN9A | c.3160A>G (p.Lys1054Glu) c.160A>G (p.Lys54Glu) c.3127A>G (p.Lys1043Glu) c.1877-92A>G n.870-4498T>C c.2773A>G (p.Lys925Glu) c.2416A>G (p.Lys806Glu) | dbSNP |
2 | g.166272590T>G | CA349073505 | SCN1A-AS1,SCN9A | c.3160A>C (p.Lys1054Gln) c.160A>C (p.Lys54Gln) c.3127A>C (p.Lys1043Gln) c.1877-92A>C n.870-4498T>G c.2773A>C (p.Lys925Gln) c.2416A>C (p.Lys806Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.166272590T= | CA1304962768 | SCN1A-AS1,SCN9A | c.3160A= (p.Lys1054=) c.160A= (p.Lys54=) c.3127A= (p.Lys1043=) c.1877-92A= n.870-4498T= c.2773A= (p.Lys925=) c.2416A= (p.Lys806=) | |
2 | g.166272591G>A | CA429978069 | SCN1A-AS1,SCN9A | c.3159C>T (p.Leu1053=) c.159C>T (p.Leu53=) c.3126C>T (p.Leu1042=) c.1877-93C>T n.870-4497G>A c.2772C>T (p.Leu924=) c.2415C>T (p.Leu805=) | |
2 | g.166272591G>C | CA1944131 | SCN1A-AS1,SCN9A | c.3159C>G (p.Leu1053=) c.159C>G (p.Leu53=) c.3126C>G (p.Leu1042=) c.1877-93C>G n.870-4497G>C c.2772C>G (p.Leu924=) c.2415C>G (p.Leu805=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272591G= | CA1304962769 | SCN1A-AS1,SCN9A | c.3159C= (p.Leu1053=) c.159C= (p.Leu53=) c.3126C= (p.Leu1042=) c.1877-93C= n.870-4497G= c.2772C= (p.Leu924=) c.2415C= (p.Leu805=) | |
2 | g.166272591G>T | CA429978072 | SCN1A-AS1,SCN9A | c.3159C>A (p.Leu1053=) c.159C>A (p.Leu53=) c.3126C>A (p.Leu1042=) c.1877-93C>A n.870-4497G>T c.2772C>A (p.Leu924=) c.2415C>A (p.Leu805=) | |
2 | g.166272592A= | CA1304962770 | SCN1A-AS1,SCN9A | c.3158T= (p.Leu1053=) c.158T= (p.Leu53=) c.3125T= (p.Leu1042=) c.1877-94T= n.870-4496A= c.2771T= (p.Leu924=) c.2414T= (p.Leu805=) | |
2 | g.166272592A>C | CA349073521 | SCN1A-AS1,SCN9A | c.3158T>G (p.Leu1053Arg) c.158T>G (p.Leu53Arg) c.3125T>G (p.Leu1042Arg) c.1877-94T>G n.870-4496A>C c.2771T>G (p.Leu924Arg) c.2414T>G (p.Leu805Arg) | |
2 | g.166272592A>G | CA349073513 | SCN1A-AS1,SCN9A | c.3158T>C (p.Leu1053Pro) c.158T>C (p.Leu53Pro) c.3125T>C (p.Leu1042Pro) c.1877-94T>C n.870-4496A>G c.2771T>C (p.Leu924Pro) c.2414T>C (p.Leu805Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272592A>T | CA349073515 | SCN1A-AS1,SCN9A | c.3158T>A (p.Leu1053His) c.158T>A (p.Leu53His) c.3125T>A (p.Leu1042His) c.1877-94T>A n.870-4496A>T c.2771T>A (p.Leu924His) c.2414T>A (p.Leu805His) | |
2 | g.166272593G>A | CA240874 | SCN1A-AS1,SCN9A | c.3157C>T (p.Leu1053Phe) c.157C>T (p.Leu53Phe) c.3124C>T (p.Leu1042Phe) c.1877-95C>T n.870-4495G>A c.2770C>T (p.Leu924Phe) c.2413C>T (p.Leu805Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272593G>C | CA349073527 | SCN1A-AS1,SCN9A | c.3157C>G (p.Leu1053Val) c.157C>G (p.Leu53Val) c.3124C>G (p.Leu1042Val) c.1877-95C>G n.870-4495G>C c.2770C>G (p.Leu924Val) c.2413C>G (p.Leu805Val) | |
2 | g.166272593G= | CA1304962771 | SCN1A-AS1,SCN9A | c.3157C= (p.Leu1053=) c.157C= (p.Leu53=) c.3124C= (p.Leu1042=) c.1877-95C= n.870-4495G= c.2770C= (p.Leu924=) c.2413C= (p.Leu805=) | |
2 | g.166272593G>T | CA349073529 | SCN1A-AS1,SCN9A | c.3157C>A (p.Leu1053Ile) c.157C>A (p.Leu53Ile) c.3124C>A (p.Leu1042Ile) c.1877-95C>A n.870-4495G>T c.2770C>A (p.Leu924Ile) c.2413C>A (p.Leu805Ile) | |
2 | g.166272594G>A | CA429978074 | SCN1A-AS1,SCN9A | c.3156C>T (p.Phe1052=) c.156C>T (p.Phe52=) c.3123C>T (p.Phe1041=) c.1877-96C>T n.870-4494G>A c.2769C>T (p.Phe923=) c.2412C>T (p.Phe804=) | dbSNP COSMIC COSMIC |
2 | g.166272594G>C | CA349073532 | SCN1A-AS1,SCN9A | c.3156C>G (p.Phe1052Leu) c.156C>G (p.Phe52Leu) c.3123C>G (p.Phe1041Leu) c.1877-96C>G n.870-4494G>C c.2769C>G (p.Phe923Leu) c.2412C>G (p.Phe804Leu) | |
2 | g.166272594G= | CA1304962772 | SCN1A-AS1,SCN9A | c.3156C= (p.Phe1052=) c.156C= (p.Phe52=) c.3123C= (p.Phe1041=) c.1877-96C= n.870-4494G= c.2769C= (p.Phe923=) c.2412C= (p.Phe804=) | |
2 | g.166272594G>T | CA349073534 | SCN1A-AS1,SCN9A | c.3156C>A (p.Phe1052Leu) c.156C>A (p.Phe52Leu) c.3123C>A (p.Phe1041Leu) c.1877-96C>A n.870-4494G>T c.2769C>A (p.Phe923Leu) c.2412C>A (p.Phe804Leu) | |
2 | g.166272595A>C | CA349073538 | SCN1A-AS1,SCN9A | c.3155T>G (p.Phe1052Cys) c.155T>G (p.Phe52Cys) c.3122T>G (p.Phe1041Cys) c.1877-97T>G n.870-4493A>C c.2768T>G (p.Phe923Cys) c.2411T>G (p.Phe804Cys) | |
2 | g.166272595A>G | CA349073541 | SCN1A-AS1,SCN9A | c.3155T>C (p.Phe1052Ser) c.155T>C (p.Phe52Ser) c.3122T>C (p.Phe1041Ser) c.1877-97T>C n.870-4493A>G c.2768T>C (p.Phe923Ser) c.2411T>C (p.Phe804Ser) | |
2 | g.166272595A>T | CA349073543 | SCN1A-AS1,SCN9A | c.3155T>A (p.Phe1052Tyr) c.155T>A (p.Phe52Tyr) c.3122T>A (p.Phe1041Tyr) c.1877-97T>A n.870-4493A>T c.2768T>A (p.Phe923Tyr) c.2411T>A (p.Phe804Tyr) | |
2 | g.166272596A= | CA1304962773 | SCN1A-AS1,SCN9A | c.3154T= (p.Phe1052=) c.154T= (p.Phe52=) c.3121T= (p.Phe1041=) c.1877-98T= n.870-4492A= c.2767T= (p.Phe923=) c.2410T= (p.Phe804=) | |
2 | g.166272596A>C | CA349073546 | SCN1A-AS1,SCN9A | c.3154T>G (p.Phe1052Val) c.154T>G (p.Phe52Val) c.3121T>G (p.Phe1041Val) c.1877-98T>G n.870-4492A>C c.2767T>G (p.Phe923Val) c.2410T>G (p.Phe804Val) | |
2 | g.166272596A>G | CA349073549 | SCN1A-AS1,SCN9A | c.3154T>C (p.Phe1052Leu) c.154T>C (p.Phe52Leu) c.3121T>C (p.Phe1041Leu) c.1877-98T>C n.870-4492A>G c.2767T>C (p.Phe923Leu) c.2410T>C (p.Phe804Leu) | |
2 | g.166272596A>T | CA59791429 | SCN1A-AS1,SCN9A | c.3154T>A (p.Phe1052Ile) c.154T>A (p.Phe52Ile) c.3121T>A (p.Phe1041Ile) c.1877-98T>A n.870-4492A>T c.2767T>A (p.Phe923Ile) c.2410T>A (p.Phe804Ile) | dbSNP gnomAD v4 |
2 | g.166272597A>C | CA349073553 | SCN1A-AS1,SCN9A | c.3153T>G (p.Asn1051Lys) c.153T>G (p.Asn51Lys) c.3120T>G (p.Asn1040Lys) c.1877-99T>G n.870-4491A>C c.2766T>G (p.Asn922Lys) c.2409T>G (p.Asn803Lys) | |
2 | g.166272597A>G | CA429978081 | SCN1A-AS1,SCN9A | c.3153T>C (p.Asn1051=) c.153T>C (p.Asn51=) c.3120T>C (p.Asn1040=) c.1877-99T>C n.870-4491A>G c.2766T>C (p.Asn922=) c.2409T>C (p.Asn803=) | ClinVar dbSNP gnomAD v4 |
2 | g.166272597A>T | CA349073557 | SCN1A-AS1,SCN9A | c.3153T>A (p.Asn1051Lys) c.153T>A (p.Asn51Lys) c.3120T>A (p.Asn1040Lys) c.1877-99T>A n.870-4491A>T c.2766T>A (p.Asn922Lys) c.2409T>A (p.Asn803Lys) | |
2 | g.166272598T>A | CA349073560 | SCN1A-AS1,SCN9A | c.3152A>T (p.Asn1051Ile) c.152A>T (p.Asn51Ile) c.3119A>T (p.Asn1040Ile) c.1877-100A>T n.870-4490T>A c.2765A>T (p.Asn922Ile) c.2408A>T (p.Asn803Ile) | |
2 | g.166272598T>C | CA349073566 | SCN1A-AS1,SCN9A | c.3152A>G (p.Asn1051Ser) c.152A>G (p.Asn51Ser) c.3119A>G (p.Asn1040Ser) c.1877-100A>G n.870-4490T>C c.2765A>G (p.Asn922Ser) c.2408A>G (p.Asn803Ser) | |
2 | g.166272598T>G | CA349073570 | SCN1A-AS1,SCN9A | c.3152A>C (p.Asn1051Thr) c.152A>C (p.Asn51Thr) c.3119A>C (p.Asn1040Thr) c.1877-100A>C n.870-4490T>G c.2765A>C (p.Asn922Thr) c.2408A>C (p.Asn803Thr) | |
2 | g.166272599T>A | CA349073574 | SCN1A-AS1,SCN9A | c.3151A>T (p.Asn1051Tyr) c.151A>T (p.Asn51Tyr) c.3118A>T (p.Asn1040Tyr) c.1877-101A>T n.870-4489T>A c.2764A>T (p.Asn922Tyr) c.2407A>T (p.Asn803Tyr) | |
2 | g.166272599T>C | CA349073576 | SCN1A-AS1,SCN9A | c.3151A>G (p.Asn1051Asp) c.151A>G (p.Asn51Asp) c.3118A>G (p.Asn1040Asp) c.1877-101A>G n.870-4489T>C c.2764A>G (p.Asn922Asp) c.2407A>G (p.Asn803Asp) | |
2 | g.166272599T>G | CA349073578 | SCN1A-AS1,SCN9A | c.3151A>C (p.Asn1051His) c.151A>C (p.Asn51His) c.3118A>C (p.Asn1040His) c.1877-101A>C n.870-4489T>G c.2764A>C (p.Asn922His) c.2407A>C (p.Asn803His) | |
2 | g.166272600G>A | CA429978085 | SCN1A-AS1,SCN9A | c.3150C>T (p.His1050=) c.150C>T (p.His50=) c.3117C>T (p.His1039=) c.1877-102C>T n.870-4488G>A c.2763C>T (p.His921=) c.2406C>T (p.His802=) | |
2 | g.166272600G>C | CA349073580 | SCN1A-AS1,SCN9A | c.3150C>G (p.His1050Gln) c.150C>G (p.His50Gln) c.3117C>G (p.His1039Gln) c.1877-102C>G n.870-4488G>C c.2763C>G (p.His921Gln) c.2406C>G (p.His802Gln) | |
2 | g.166272600G>T | CA349073581 | SCN1A-AS1,SCN9A | c.3150C>A (p.His1050Gln) c.150C>A (p.His50Gln) c.3117C>A (p.His1039Gln) c.1877-102C>A n.870-4488G>T c.2763C>A (p.His921Gln) c.2406C>A (p.His802Gln) | dbSNP gnomAD v4 |
2 | g.166272601T>A | CA349073585 | SCN1A-AS1,SCN9A | c.3149A>T (p.His1050Leu) c.149A>T (p.His50Leu) c.3116A>T (p.His1039Leu) c.1877-103A>T n.870-4487T>A c.2762A>T (p.His921Leu) c.2405A>T (p.His802Leu) | |
2 | g.166272601T>C | CA349073587 | SCN1A-AS1,SCN9A | c.3149A>G (p.His1050Arg) c.149A>G (p.His50Arg) c.3116A>G (p.His1039Arg) c.1877-103A>G n.870-4487T>C c.2762A>G (p.His921Arg) c.2405A>G (p.His802Arg) | |
2 | g.166272601T>G | CA349073590 | SCN1A-AS1,SCN9A | c.3149A>C (p.His1050Pro) c.149A>C (p.His50Pro) c.3116A>C (p.His1039Pro) c.1877-103A>C n.870-4487T>G c.2762A>C (p.His921Pro) c.2405A>C (p.His802Pro) | |
2 | g.166272602G>A | CA59791439 | SCN1A-AS1,SCN9A | c.3148C>T (p.His1050Tyr) c.148C>T (p.His50Tyr) c.3115C>T (p.His1039Tyr) c.1877-104C>T n.870-4486G>A c.2761C>T (p.His921Tyr) c.2404C>T (p.His802Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166272602G>C | CA349073600 | SCN1A-AS1,SCN9A | c.3148C>G (p.His1050Asp) c.148C>G (p.His50Asp) c.3115C>G (p.His1039Asp) c.1877-104C>G n.870-4486G>C c.2761C>G (p.His921Asp) c.2404C>G (p.His802Asp) | |
2 | g.166272602G= | CA1304962774 | SCN1A-AS1,SCN9A | c.3148C= (p.His1050=) c.148C= (p.His50=) c.3115C= (p.His1039=) c.1877-104C= n.870-4486G= c.2761C= (p.His921=) c.2404C= (p.His802=) | |
2 | g.166272602G>T | CA349073593 | SCN1A-AS1,SCN9A | c.3148C>A (p.His1050Asn) c.148C>A (p.His50Asn) c.3115C>A (p.His1039Asn) c.1877-104C>A n.870-4486G>T c.2761C>A (p.His921Asn) c.2404C>A (p.His802Asn) | |
2 | g.166272603A>C | CA429978088 | SCN1A-AS1,SCN9A | c.3147T>G (p.Gly1049=) c.147T>G (p.Gly49=) c.3114T>G (p.Gly1038=) c.1877-105T>G n.870-4485A>C c.2760T>G (p.Gly920=) c.2403T>G (p.Gly801=) | |
2 | g.166272603A>G | CA429978089 | SCN1A-AS1,SCN9A | c.3147T>C (p.Gly1049=) c.147T>C (p.Gly49=) c.3114T>C (p.Gly1038=) c.1877-105T>C n.870-4485A>G c.2760T>C (p.Gly920=) c.2403T>C (p.Gly801=) | |
2 | g.166272603A>T | CA429978090 | SCN1A-AS1,SCN9A | c.3147T>A (p.Gly1049=) c.147T>A (p.Gly49=) c.3114T>A (p.Gly1038=) c.1877-105T>A n.870-4485A>T c.2760T>A (p.Gly920=) c.2403T>A (p.Gly801=) | |
2 | g.166272604C>A | CA349073605 | SCN1A-AS1,SCN9A | c.3146G>T (p.Gly1049Val) c.146G>T (p.Gly49Val) c.3113G>T (p.Gly1038Val) c.1877-106G>T n.870-4484C>A c.2759G>T (p.Gly920Val) c.2402G>T (p.Gly801Val) | |
2 | g.166272604C= | CA1304962775 | SCN1A-AS1,SCN9A | c.3146G= (p.Gly1049=) c.146G= (p.Gly49=) c.3113G= (p.Gly1038=) c.1877-106G= n.870-4484C= c.2759G= (p.Gly920=) c.2402G= (p.Gly801=) | |
2 | g.166272604C>G | CA349073610 | SCN1A-AS1,SCN9A | c.3146G>C (p.Gly1049Ala) c.146G>C (p.Gly49Ala) c.3113G>C (p.Gly1038Ala) c.1877-106G>C n.870-4484C>G c.2759G>C (p.Gly920Ala) c.2402G>C (p.Gly801Ala) | |
2 | g.166272604C>T | CA349073612 | SCN1A-AS1,SCN9A | c.3146G>A (p.Gly1049Asp) c.146G>A (p.Gly49Asp) c.3113G>A (p.Gly1038Asp) c.1877-106G>A n.870-4484C>T c.2759G>A (p.Gly920Asp) c.2402G>A (p.Gly801Asp) | dbSNP |
2 | g.166272605dup | CA2661766687 | SCN1A-AS1,SCN9A | c.3146dup (p.His1050SerfsTer9) c.146dup (p.His50SerfsTer9) c.3113dup (p.His1039SerfsTer9) c.1877-106dup n.870-4483dup c.2759dup (p.His921SerfsTer9) c.2402dup (p.His802SerfsTer9) | gnomAD v4 |
2 | g.166272605C>A | CA349073615 | SCN1A-AS1,SCN9A | c.3145G>T (p.Gly1049Cys) c.145G>T (p.Gly49Cys) c.3112G>T (p.Gly1038Cys) c.1877-107G>T n.870-4483C>A c.2758G>T (p.Gly920Cys) c.2401G>T (p.Gly801Cys) | |
2 | g.166272605C= | CA1304962776 | SCN1A-AS1,SCN9A | c.3145G= (p.Gly1049=) c.145G= (p.Gly49=) c.3112G= (p.Gly1038=) c.1877-107G= n.870-4483C= c.2758G= (p.Gly920=) c.2401G= (p.Gly801=) | |
2 | g.166272605C>G | CA349073617 | SCN1A-AS1,SCN9A | c.3145G>C (p.Gly1049Arg) c.145G>C (p.Gly49Arg) c.3112G>C (p.Gly1038Arg) c.1877-107G>C n.870-4483C>G c.2758G>C (p.Gly920Arg) c.2401G>C (p.Gly801Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272605C>T | CA1944132 | SCN1A-AS1,SCN9A | c.3145G>A (p.Gly1049Ser) c.145G>A (p.Gly49Ser) c.3112G>A (p.Gly1038Ser) c.1877-107G>A n.870-4483C>T c.2758G>A (p.Gly920Ser) c.2401G>A (p.Gly801Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272606T>A | CA349073619 | SCN1A-AS1,SCN9A | c.3144A>T (p.Lys1048Asn) c.144A>T (p.Lys48Asn) c.3111A>T (p.Lys1037Asn) c.1877-108A>T n.870-4482T>A c.2757A>T (p.Lys919Asn) c.2400A>T (p.Lys800Asn) | |
2 | g.166272606T>C | CA59791449 | SCN1A-AS1,SCN9A | c.3144A>G (p.Lys1048=) c.144A>G (p.Lys48=) c.3111A>G (p.Lys1037=) c.1877-108A>G n.870-4482T>C c.2757A>G (p.Lys919=) c.2400A>G (p.Lys800=) | dbSNP gnomAD v4 |
2 | g.166272606T>G | CA349073621 | SCN1A-AS1,SCN9A | c.3144A>C (p.Lys1048Asn) c.144A>C (p.Lys48Asn) c.3111A>C (p.Lys1037Asn) c.1877-108A>C n.870-4482T>G c.2757A>C (p.Lys919Asn) c.2400A>C (p.Lys800Asn) | |
2 | g.166272606T= | CA1304962777 | SCN1A-AS1,SCN9A | c.3144A= (p.Lys1048=) c.144A= (p.Lys48=) c.3111A= (p.Lys1037=) c.1877-108A= n.870-4482T= c.2757A= (p.Lys919=) c.2400A= (p.Lys800=) | |
2 | g.166272607T>A | CA349073623 | SCN1A-AS1,SCN9A | c.3143A>T (p.Lys1048Ile) c.143A>T (p.Lys48Ile) c.3110A>T (p.Lys1037Ile) c.1877-109A>T n.870-4481T>A c.2756A>T (p.Lys919Ile) c.2399A>T (p.Lys800Ile) | |
2 | g.166272607T>C | CA349073624 | SCN1A-AS1,SCN9A | c.3143A>G (p.Lys1048Arg) c.143A>G (p.Lys48Arg) c.3110A>G (p.Lys1037Arg) c.1877-109A>G n.870-4481T>C c.2756A>G (p.Lys919Arg) c.2399A>G (p.Lys800Arg) | |
2 | g.166272607T>G | CA349073626 | SCN1A-AS1,SCN9A | c.3143A>C (p.Lys1048Thr) c.143A>C (p.Lys48Thr) c.3110A>C (p.Lys1037Thr) c.1877-109A>C n.870-4481T>G c.2756A>C (p.Lys919Thr) c.2399A>C (p.Lys800Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.166272607T= | CA1304962778 | SCN1A-AS1,SCN9A | c.3143A= (p.Lys1048=) c.143A= (p.Lys48=) c.3110A= (p.Lys1037=) c.1877-109A= n.870-4481T= c.2756A= (p.Lys919=) c.2399A= (p.Lys800=) | |
2 | g.166272608T>A | CA349073627 | SCN1A-AS1,SCN9A | c.3142A>T (p.Lys1048Ter) c.142A>T (p.Lys48Ter) c.3109A>T (p.Lys1037Ter) c.1877-110A>T n.870-4480T>A c.2755A>T (p.Lys919Ter) c.2398A>T (p.Lys800Ter) | dbSNP |
2 | g.166272608T>C | CA349073630 | SCN1A-AS1,SCN9A | c.3142A>G (p.Lys1048Glu) c.142A>G (p.Lys48Glu) c.3109A>G (p.Lys1037Glu) c.1877-110A>G n.870-4480T>C c.2755A>G (p.Lys919Glu) c.2398A>G (p.Lys800Glu) | |
2 | g.166272608T>G | CA349073633 | SCN1A-AS1,SCN9A | c.3142A>C (p.Lys1048Gln) c.142A>C (p.Lys48Gln) c.3109A>C (p.Lys1037Gln) c.1877-110A>C n.870-4480T>G c.2755A>C (p.Lys919Gln) c.2398A>C (p.Lys800Gln) | |
2 | g.166272608T= | CA1304962779 | SCN1A-AS1,SCN9A | c.3142A= (p.Lys1048=) c.142A= (p.Lys48=) c.3109A= (p.Lys1037=) c.1877-110A= n.870-4480T= c.2755A= (p.Lys919=) c.2398A= (p.Lys800=) | |
2 | g.166272609G>A | CA59791461 | SCN1A-AS1,SCN9A | c.3141C>T (p.Ser1047=) c.141C>T (p.Ser47=) c.3108C>T (p.Ser1036=) c.1877-111C>T n.870-4479G>A c.2754C>T (p.Ser918=) c.2397C>T (p.Ser799=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272609G>C | CA349073638 | SCN1A-AS1,SCN9A | c.3141C>G (p.Ser1047Arg) c.141C>G (p.Ser47Arg) c.3108C>G (p.Ser1036Arg) c.1877-111C>G n.870-4479G>C c.2754C>G (p.Ser918Arg) c.2397C>G (p.Ser799Arg) | |
2 | g.166272609G= | CA1304962780 | SCN1A-AS1,SCN9A | c.3141C= (p.Ser1047=) c.141C= (p.Ser47=) c.3108C= (p.Ser1036=) c.1877-111C= n.870-4479G= c.2754C= (p.Ser918=) c.2397C= (p.Ser799=) | |
2 | g.166272609G>T | CA349073641 | SCN1A-AS1,SCN9A | c.3141C>A (p.Ser1047Arg) c.141C>A (p.Ser47Arg) c.3108C>A (p.Ser1036Arg) c.1877-111C>A n.870-4479G>T c.2754C>A (p.Ser918Arg) c.2397C>A (p.Ser799Arg) | gnomAD v4 |
2 | g.166272610C>A | CA349073644 | SCN1A-AS1,SCN9A | c.3140G>T (p.Ser1047Ile) c.140G>T (p.Ser47Ile) c.3107G>T (p.Ser1036Ile) c.1877-112G>T n.870-4478C>A c.2753G>T (p.Ser918Ile) c.2396G>T (p.Ser799Ile) | |
2 | g.166272610C= | CA1304962781 | SCN1A-AS1,SCN9A | c.3140G= (p.Ser1047=) c.140G= (p.Ser47=) c.3107G= (p.Ser1036=) c.1877-112G= n.870-4478C= c.2753G= (p.Ser918=) c.2396G= (p.Ser799=) | |
2 | g.166272610C>G | CA349073647 | SCN1A-AS1,SCN9A | c.3140G>C (p.Ser1047Thr) c.140G>C (p.Ser47Thr) c.3107G>C (p.Ser1036Thr) c.1877-112G>C n.870-4478C>G c.2753G>C (p.Ser918Thr) c.2396G>C (p.Ser799Thr) | gnomAD v4 |
2 | g.166272610C>T | CA59791469 | SCN1A-AS1,SCN9A | c.3140G>A (p.Ser1047Asn) c.140G>A (p.Ser47Asn) c.3107G>A (p.Ser1036Asn) c.1877-112G>A n.870-4478C>T c.2753G>A (p.Ser918Asn) c.2396G>A (p.Ser799Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272611T>A | CA349073652 | SCN1A-AS1,SCN9A | c.3139A>T (p.Ser1047Cys) c.139A>T (p.Ser47Cys) c.3106A>T (p.Ser1036Cys) c.1877-113A>T n.870-4477T>A c.2752A>T (p.Ser918Cys) c.2395A>T (p.Ser799Cys) | |
2 | g.166272611T>C | CA349073654 | SCN1A-AS1,SCN9A | c.3139A>G (p.Ser1047Gly) c.139A>G (p.Ser47Gly) c.3106A>G (p.Ser1036Gly) c.1877-113A>G n.870-4477T>C c.2752A>G (p.Ser918Gly) c.2395A>G (p.Ser799Gly) | dbSNP gnomAD v2 |
2 | g.166272611T>G | CA349073657 | SCN1A-AS1,SCN9A | c.3139A>C (p.Ser1047Arg) c.139A>C (p.Ser47Arg) c.3106A>C (p.Ser1036Arg) c.1877-113A>C n.870-4477T>G c.2752A>C (p.Ser918Arg) c.2395A>C (p.Ser799Arg) | |
2 | g.166272611T= | CA1304962782 | SCN1A-AS1,SCN9A | c.3139A= (p.Ser1047=) c.139A= (p.Ser47=) c.3106A= (p.Ser1036=) c.1877-113A= n.870-4477T= c.2752A= (p.Ser918=) c.2395A= (p.Ser799=) | |
2 | g.166272612C>A | CA349073661 | SCN1A-AS1,SCN9A | c.3138G>T (p.Met1046Ile) c.138G>T (p.Met46Ile) c.3105G>T (p.Met1035Ile) c.1877-114G>T n.870-4476C>A c.2751G>T (p.Met917Ile) c.2394G>T (p.Met798Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272612C= | CA1304962783 | SCN1A-AS1,SCN9A | c.3138G= (p.Met1046=) c.138G= (p.Met46=) c.3105G= (p.Met1035=) c.1877-114G= n.870-4476C= c.2751G= (p.Met917=) c.2394G= (p.Met798=) | |
2 | g.166272612C>G | CA349073663 | SCN1A-AS1,SCN9A | c.3138G>C (p.Met1046Ile) c.138G>C (p.Met46Ile) c.3105G>C (p.Met1035Ile) c.1877-114G>C n.870-4476C>G c.2751G>C (p.Met917Ile) c.2394G>C (p.Met798Ile) | |
2 | g.166272612C>T | CA349073671 | SCN1A-AS1,SCN9A | c.3138G>A (p.Met1046Ile) c.138G>A (p.Met46Ile) c.3105G>A (p.Met1035Ile) c.1877-114G>A n.870-4476C>T c.2751G>A (p.Met917Ile) c.2394G>A (p.Met798Ile) | |
2 | g.166272613A>C | CA349073674 | SCN1A-AS1,SCN9A | c.3137T>G (p.Met1046Arg) c.137T>G (p.Met46Arg) c.3104T>G (p.Met1035Arg) c.1877-115T>G n.870-4475A>C c.2750T>G (p.Met917Arg) c.2393T>G (p.Met798Arg) | |
2 | g.166272613A>G | CA349073677 | SCN1A-AS1,SCN9A | c.3137T>C (p.Met1046Thr) c.137T>C (p.Met46Thr) c.3104T>C (p.Met1035Thr) c.1877-115T>C n.870-4475A>G c.2750T>C (p.Met917Thr) c.2393T>C (p.Met798Thr) | |
2 | g.166272613A>T | CA349073679 | SCN1A-AS1,SCN9A | c.3137T>A (p.Met1046Lys) c.137T>A (p.Met46Lys) c.3104T>A (p.Met1035Lys) c.1877-115T>A n.870-4475A>T c.2750T>A (p.Met917Lys) c.2393T>A (p.Met798Lys) | |
2 | g.166272614T>A | CA349073685 | SCN1A-AS1,SCN9A | c.3136A>T (p.Met1046Leu) c.136A>T (p.Met46Leu) c.3103A>T (p.Met1035Leu) c.1877-116A>T n.870-4474T>A c.2749A>T (p.Met917Leu) c.2392A>T (p.Met798Leu) | |
2 | g.166272614T>C | CA349073688 | SCN1A-AS1,SCN9A | c.3136A>G (p.Met1046Val) c.136A>G (p.Met46Val) c.3103A>G (p.Met1035Val) c.1877-116A>G n.870-4474T>C c.2749A>G (p.Met917Val) c.2392A>G (p.Met798Val) | ClinVar dbSNP gnomAD v4 |
2 | g.166272614T>G | CA349073681 | SCN1A-AS1,SCN9A | c.3136A>C (p.Met1046Leu) c.136A>C (p.Met46Leu) c.3103A>C (p.Met1035Leu) c.1877-116A>C n.870-4474T>G c.2749A>C (p.Met917Leu) c.2392A>C (p.Met798Leu) | |
2 | g.166272614T= | CA1304962784 | SCN1A-AS1,SCN9A | c.3136A= (p.Met1046=) c.136A= (p.Met46=) c.3103A= (p.Met1035=) c.1877-116A= n.870-4474T= c.2749A= (p.Met917=) c.2392A= (p.Met798=) | |
2 | g.166272615T>A | CA349073695 | SCN1A-AS1,SCN9A | c.3135A>T (p.Glu1045Asp) c.135A>T (p.Glu45Asp) c.3102A>T (p.Glu1034Asp) c.1877-117A>T n.870-4473T>A c.2748A>T (p.Glu916Asp) c.2391A>T (p.Glu797Asp) | |
2 | g.166272615T>C | CA429978110 | SCN1A-AS1,SCN9A | c.3135A>G (p.Glu1045=) c.135A>G (p.Glu45=) c.3102A>G (p.Glu1034=) c.1877-117A>G n.870-4473T>C c.2748A>G (p.Glu916=) c.2391A>G (p.Glu797=) | |
2 | g.166272615T>G | CA349073692 | SCN1A-AS1,SCN9A | c.3135A>C (p.Glu1045Asp) c.135A>C (p.Glu45Asp) c.3102A>C (p.Glu1034Asp) c.1877-117A>C n.870-4473T>G c.2748A>C (p.Glu916Asp) c.2391A>C (p.Glu797Asp) | |
2 | g.166272616T>A | CA349073698 | SCN1A-AS1,SCN9A | c.3134A>T (p.Glu1045Val) c.134A>T (p.Glu45Val) c.3101A>T (p.Glu1034Val) c.1877-118A>T n.870-4472T>A c.2747A>T (p.Glu916Val) c.2390A>T (p.Glu797Val) | |
2 | g.166272616T>C | CA349073701 | SCN1A-AS1,SCN9A | c.3134A>G (p.Glu1045Gly) c.134A>G (p.Glu45Gly) c.3101A>G (p.Glu1034Gly) c.1877-118A>G n.870-4472T>C c.2747A>G (p.Glu916Gly) c.2390A>G (p.Glu797Gly) | |
2 | g.166272616T>G | CA349073703 | SCN1A-AS1,SCN9A | c.3134A>C (p.Glu1045Ala) c.134A>C (p.Glu45Ala) c.3101A>C (p.Glu1034Ala) c.1877-118A>C n.870-4472T>G c.2747A>C (p.Glu916Ala) c.2390A>C (p.Glu797Ala) | |
2 | g.166272617C>A | CA59791481 | SCN1A-AS1,SCN9A | c.3133G>T (p.Glu1045Ter) c.133G>T (p.Glu45Ter) c.3100G>T (p.Glu1034Ter) c.1877-119G>T n.870-4471C>A c.2746G>T (p.Glu916Ter) c.2389G>T (p.Glu797Ter) | dbSNP |
2 | g.166272617C= | CA1304962785 | SCN1A-AS1,SCN9A | c.3133G= (p.Glu1045=) c.133G= (p.Glu45=) c.3100G= (p.Glu1034=) c.1877-119G= n.870-4471C= c.2746G= (p.Glu916=) c.2389G= (p.Glu797=) | |
2 | g.166272617C>G | CA349073708 | SCN1A-AS1,SCN9A | c.3133G>C (p.Glu1045Gln) c.133G>C (p.Glu45Gln) c.3100G>C (p.Glu1034Gln) c.1877-119G>C n.870-4471C>G c.2746G>C (p.Glu916Gln) c.2389G>C (p.Glu797Gln) | |
2 | g.166272617C>T | CA349073710 | SCN1A-AS1,SCN9A | c.3133G>A (p.Glu1045Lys) c.133G>A (p.Glu45Lys) c.3100G>A (p.Glu1034Lys) c.1877-119G>A n.870-4471C>T c.2746G>A (p.Glu916Lys) c.2389G>A (p.Glu797Lys) | |
2 | g.166272618A>C | CA429978113 | SCN1A-AS1,SCN9A | c.3132T>G (p.Ala1044=) c.132T>G (p.Ala44=) c.3099T>G (p.Ala1033=) c.1877-120T>G n.870-4470A>C c.2745T>G (p.Ala915=) c.2388T>G (p.Ala796=) | |
2 | g.166272618A>G | CA429978114 | SCN1A-AS1,SCN9A | c.3132T>C (p.Ala1044=) c.132T>C (p.Ala44=) c.3099T>C (p.Ala1033=) c.1877-120T>C n.870-4470A>G c.2745T>C (p.Ala915=) c.2388T>C (p.Ala796=) | |
2 | g.166272618A>T | CA429978115 | SCN1A-AS1,SCN9A | c.3132T>A (p.Ala1044=) c.132T>A (p.Ala44=) c.3099T>A (p.Ala1033=) c.1877-120T>A n.870-4470A>T c.2745T>A (p.Ala915=) c.2388T>A (p.Ala796=) | |
2 | g.166272619G>A | CA349073714 | SCN1A-AS1,SCN9A | c.3131C>T (p.Ala1044Val) c.131C>T (p.Ala44Val) c.3098C>T (p.Ala1033Val) c.1877-121C>T n.870-4469G>A c.2744C>T (p.Ala915Val) c.2387C>T (p.Ala796Val) | |
2 | g.166272619G>C | CA349073721 | SCN1A-AS1,SCN9A | c.3131C>G (p.Ala1044Gly) c.131C>G (p.Ala44Gly) c.3098C>G (p.Ala1033Gly) c.1877-121C>G n.870-4469G>C c.2744C>G (p.Ala915Gly) c.2387C>G (p.Ala796Gly) | ClinVar dbSNP |
2 | g.166272619G= | CA1304962786 | SCN1A-AS1,SCN9A | c.3131C= (p.Ala1044=) c.131C= (p.Ala44=) c.3098C= (p.Ala1033=) c.1877-121C= n.870-4469G= c.2744C= (p.Ala915=) c.2387C= (p.Ala796=) | |
2 | g.166272619G>T | CA349073723 | SCN1A-AS1,SCN9A | c.3131C>A (p.Ala1044Asp) c.131C>A (p.Ala44Asp) c.3098C>A (p.Ala1033Asp) c.1877-121C>A n.870-4469G>T c.2744C>A (p.Ala915Asp) c.2387C>A (p.Ala796Asp) | ClinVar |
2 | g.166272620C>A | CA349073725 | SCN1A-AS1,SCN9A | c.3130G>T (p.Ala1044Ser) c.130G>T (p.Ala44Ser) c.3097G>T (p.Ala1033Ser) c.1877-122G>T n.870-4468C>A c.2743G>T (p.Ala915Ser) c.2386G>T (p.Ala796Ser) | |
2 | g.166272620C= | CA1304962787 | SCN1A-AS1,SCN9A | c.3130G= (p.Ala1044=) c.130G= (p.Ala44=) c.3097G= (p.Ala1033=) c.1877-122G= n.870-4468C= c.2743G= (p.Ala915=) c.2386G= (p.Ala796=) | |
2 | g.166272620C>G | CA349073726 | SCN1A-AS1,SCN9A | c.3130G>C (p.Ala1044Pro) c.130G>C (p.Ala44Pro) c.3097G>C (p.Ala1033Pro) c.1877-122G>C n.870-4468C>G c.2743G>C (p.Ala915Pro) c.2386G>C (p.Ala796Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272620C>T | CA349073729 | SCN1A-AS1,SCN9A | c.3130G>A (p.Ala1044Thr) c.130G>A (p.Ala44Thr) c.3097G>A (p.Ala1033Thr) c.1877-122G>A n.870-4468C>T c.2743G>A (p.Ala915Thr) c.2386G>A (p.Ala796Thr) | |
2 | g.166272621A>C | CA429978121 | SCN1A-AS1,SCN9A | c.3129T>G (p.Leu1043=) c.129T>G (p.Leu43=) c.3096T>G (p.Leu1032=) c.1877-123T>G n.870-4467A>C c.2742T>G (p.Leu914=) c.2385T>G (p.Leu795=) | ClinVar |
2 | g.166272621A>G | CA429978123 | SCN1A-AS1,SCN9A | c.3129T>C (p.Leu1043=) c.129T>C (p.Leu43=) c.3096T>C (p.Leu1032=) c.1877-123T>C n.870-4467A>G c.2742T>C (p.Leu914=) c.2385T>C (p.Leu795=) | |
2 | g.166272621A>T | CA429978124 | SCN1A-AS1,SCN9A | c.3129T>A (p.Leu1043=) c.129T>A (p.Leu43=) c.3096T>A (p.Leu1032=) c.1877-123T>A n.870-4467A>T c.2742T>A (p.Leu914=) c.2385T>A (p.Leu795=) | |
2 | g.166272622del | CA2701016303 | SCN1A-AS1,SCN9A | c.3129del (p.Ala1044LeufsTer3) c.129del (p.Ala44LeufsTer3) c.3096del (p.Ala1033LeufsTer3) c.1877-123del n.870-4466del c.2742del (p.Ala915LeufsTer3) c.2385del (p.Ala796LeufsTer3) | dbSNP |
2 | g.166272622A>C | CA349073744 | SCN1A-AS1,SCN9A | c.3128T>G (p.Leu1043Arg) c.128T>G (p.Leu43Arg) c.3095T>G (p.Leu1032Arg) c.1877-124T>G n.870-4466A>C c.2741T>G (p.Leu914Arg) c.2384T>G (p.Leu795Arg) | |
2 | g.166272622A>G | CA349073736 | SCN1A-AS1,SCN9A | c.3128T>C (p.Leu1043Pro) c.128T>C (p.Leu43Pro) c.3095T>C (p.Leu1032Pro) c.1877-124T>C n.870-4466A>G c.2741T>C (p.Leu914Pro) c.2384T>C (p.Leu795Pro) | |
2 | g.166272622A>T | CA349073732 | SCN1A-AS1,SCN9A | c.3128T>A (p.Leu1043His) c.128T>A (p.Leu43His) c.3095T>A (p.Leu1032His) c.1877-124T>A n.870-4466A>T c.2741T>A (p.Leu914His) c.2384T>A (p.Leu795His) | |
2 | g.166272623G>A | CA349073746 | SCN1A-AS1,SCN9A | c.3127C>T (p.Leu1043Phe) c.127C>T (p.Leu43Phe) c.3094C>T (p.Leu1032Phe) c.1877-125C>T n.870-4465G>A c.2740C>T (p.Leu914Phe) c.2383C>T (p.Leu795Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272623G>C | CA349073748 | SCN1A-AS1,SCN9A | c.3127C>G (p.Leu1043Val) c.127C>G (p.Leu43Val) c.3094C>G (p.Leu1032Val) c.1877-125C>G n.870-4465G>C c.2740C>G (p.Leu914Val) c.2383C>G (p.Leu795Val) | |
2 | g.166272623G= | CA1304962788 | SCN1A-AS1,SCN9A | c.3127C= (p.Leu1043=) c.127C= (p.Leu43=) c.3094C= (p.Leu1032=) c.1877-125C= n.870-4465G= c.2740C= (p.Leu914=) c.2383C= (p.Leu795=) | |
2 | g.166272623G>T | CA349073749 | SCN1A-AS1,SCN9A | c.3127C>A (p.Leu1043Ile) c.127C>A (p.Leu43Ile) c.3094C>A (p.Leu1032Ile) c.1877-125C>A n.870-4465G>T c.2740C>A (p.Leu914Ile) c.2383C>A (p.Leu795Ile) | |
2 | g.166272624T>A | CA429978127 | SCN1A-AS1,SCN9A | c.3126A>T (p.Thr1042=) c.126A>T (p.Thr42=) c.3093A>T (p.Thr1031=) c.1877-126A>T n.870-4464T>A c.2739A>T (p.Thr913=) c.2382A>T (p.Thr794=) | |
2 | g.166272624T>C | CA429978129 | SCN1A-AS1,SCN9A | c.3126A>G (p.Thr1042=) c.126A>G (p.Thr42=) c.3093A>G (p.Thr1031=) c.1877-126A>G n.870-4464T>C c.2739A>G (p.Thr913=) c.2382A>G (p.Thr794=) | |
2 | g.166272624T>G | CA429978131 | SCN1A-AS1,SCN9A | c.3126A>C (p.Thr1042=) c.126A>C (p.Thr42=) c.3093A>C (p.Thr1031=) c.1877-126A>C n.870-4464T>G c.2739A>C (p.Thr913=) c.2382A>C (p.Thr794=) | |
2 | g.166272625G>A | CA1944133 | SCN1A-AS1,SCN9A | c.3125C>T (p.Thr1042Ile) c.125C>T (p.Thr42Ile) c.3092C>T (p.Thr1031Ile) c.1877-127C>T n.870-4463G>A c.2738C>T (p.Thr913Ile) c.2381C>T (p.Thr794Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272625G>C | CA349073754 | SCN1A-AS1,SCN9A | c.3125C>G (p.Thr1042Arg) c.125C>G (p.Thr42Arg) c.3092C>G (p.Thr1031Arg) c.1877-127C>G n.870-4463G>C c.2738C>G (p.Thr913Arg) c.2381C>G (p.Thr794Arg) | dbSNP |
2 | g.166272625G= | CA1304962789 | SCN1A-AS1,SCN9A | c.3125C= (p.Thr1042=) c.125C= (p.Thr42=) c.3092C= (p.Thr1031=) c.1877-127C= n.870-4463G= c.2738C= (p.Thr913=) c.2381C= (p.Thr794=) | |
2 | g.166272625G>T | CA349073757 | SCN1A-AS1,SCN9A | c.3125C>A (p.Thr1042Lys) c.125C>A (p.Thr42Lys) c.3092C>A (p.Thr1031Lys) c.1877-127C>A n.870-4463G>T c.2738C>A (p.Thr913Lys) c.2381C>A (p.Thr794Lys) | |
2 | g.166272626T>A | CA349073762 | SCN1A-AS1,SCN9A | c.3124A>T (p.Thr1042Ser) c.124A>T (p.Thr42Ser) c.3091A>T (p.Thr1031Ser) c.1877-128A>T n.870-4462T>A c.2737A>T (p.Thr913Ser) c.2380A>T (p.Thr794Ser) | |
2 | g.166272626T>C | CA349073763 | SCN1A-AS1,SCN9A | c.3124A>G (p.Thr1042Ala) c.124A>G (p.Thr42Ala) c.3091A>G (p.Thr1031Ala) c.1877-128A>G n.870-4462T>C c.2737A>G (p.Thr913Ala) c.2380A>G (p.Thr794Ala) | |
2 | g.166272626T>G | CA349073766 | SCN1A-AS1,SCN9A | c.3124A>C (p.Thr1042Pro) c.124A>C (p.Thr42Pro) c.3091A>C (p.Thr1031Pro) c.1877-128A>C n.870-4462T>G c.2737A>C (p.Thr913Pro) c.2380A>C (p.Thr794Pro) | |
2 | g.166272627A= | CA1304962790 | SCN1A-AS1,SCN9A | c.3123T= (p.His1041=) c.123T= (p.His41=) c.3090T= (p.His1030=) c.1877-129T= n.870-4461A= c.2736T= (p.His912=) c.2379T= (p.His793=) | |
2 | g.166272627A>C | CA349073768 | SCN1A-AS1,SCN9A | c.3123T>G (p.His1041Gln) c.123T>G (p.His41Gln) c.3090T>G (p.His1030Gln) c.1877-129T>G n.870-4461A>C c.2736T>G (p.His912Gln) c.2379T>G (p.His793Gln) | |
2 | g.166272627A>G | CA429978133 | SCN1A-AS1,SCN9A | c.3123T>C (p.His1041=) c.123T>C (p.His41=) c.3090T>C (p.His1030=) c.1877-129T>C n.870-4461A>G c.2736T>C (p.His912=) c.2379T>C (p.His793=) | dbSNP |
2 | g.166272627A>T | CA349073771 | SCN1A-AS1,SCN9A | c.3123T>A (p.His1041Gln) c.123T>A (p.His41Gln) c.3090T>A (p.His1030Gln) c.1877-129T>A n.870-4461A>T c.2736T>A (p.His912Gln) c.2379T>A (p.His793Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272628T>A | CA349073774 | SCN1A-AS1,SCN9A | c.3122A>T (p.His1041Leu) c.122A>T (p.His41Leu) c.3089A>T (p.His1030Leu) c.1877-130A>T n.870-4460T>A c.2735A>T (p.His912Leu) c.2378A>T (p.His793Leu) | ClinVar |
2 | g.166272628T>C | CA349073775 | SCN1A-AS1,SCN9A | c.3122A>G (p.His1041Arg) c.122A>G (p.His41Arg) c.3089A>G (p.His1030Arg) c.1877-130A>G n.870-4460T>C c.2735A>G (p.His912Arg) c.2378A>G (p.His793Arg) | gnomAD v4 |
2 | g.166272628T>G | CA349073776 | SCN1A-AS1,SCN9A | c.3122A>C (p.His1041Pro) c.122A>C (p.His41Pro) c.3089A>C (p.His1030Pro) c.1877-130A>C n.870-4460T>G c.2735A>C (p.His912Pro) c.2378A>C (p.His793Pro) | |
2 | g.166272629G>A | CA349073777 | SCN1A-AS1,SCN9A | c.3121C>T (p.His1041Tyr) c.121C>T (p.His41Tyr) c.3088C>T (p.His1030Tyr) c.1877-131C>T n.870-4459G>A c.2734C>T (p.His912Tyr) c.2377C>T (p.His793Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166272629G>C | CA59791487 | SCN1A-AS1,SCN9A | c.3121C>G (p.His1041Asp) c.121C>G (p.His41Asp) c.3088C>G (p.His1030Asp) c.1877-131C>G n.870-4459G>C c.2734C>G (p.His912Asp) c.2377C>G (p.His793Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272629G= | CA1304962791 | SCN1A-AS1,SCN9A | c.3121C= (p.His1041=) c.121C= (p.His41=) c.3088C= (p.His1030=) c.1877-131C= n.870-4459G= c.2734C= (p.His912=) c.2377C= (p.His793=) | |
2 | g.166272629G>T | CA59791493 | SCN1A-AS1,SCN9A | c.3121C>A (p.His1041Asn) c.121C>A (p.His41Asn) c.3088C>A (p.His1030Asn) c.1877-131C>A n.870-4459G>T c.2734C>A (p.His912Asn) c.2377C>A (p.His793Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272630G>A | CA429978137 | SCN1A-AS1,SCN9A | c.3120C>T (p.Asn1040=) c.120C>T (p.Asn40=) c.3087C>T (p.Asn1029=) c.1877-132C>T n.870-4458G>A c.2733C>T (p.Asn911=) c.2376C>T (p.Asn792=) | gnomAD v4 |
2 | g.166272630G>C | CA1944134 | SCN1A-AS1,SCN9A | c.3120C>G (p.Asn1040Lys) c.120C>G (p.Asn40Lys) c.3087C>G (p.Asn1029Lys) c.1877-132C>G n.870-4458G>C c.2733C>G (p.Asn911Lys) c.2376C>G (p.Asn792Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272630G= | CA1304962792 | SCN1A-AS1,SCN9A | c.3120C= (p.Asn1040=) c.120C= (p.Asn40=) c.3087C= (p.Asn1029=) c.1877-132C= n.870-4458G= c.2733C= (p.Asn911=) c.2376C= (p.Asn792=) | |
2 | g.166272630G>T | CA349073783 | SCN1A-AS1,SCN9A | c.3120C>A (p.Asn1040Lys) c.120C>A (p.Asn40Lys) c.3087C>A (p.Asn1029Lys) c.1877-132C>A n.870-4458G>T c.2733C>A (p.Asn911Lys) c.2376C>A (p.Asn792Lys) | |
2 | g.166272631T>A | CA349073787 | SCN1A-AS1,SCN9A | c.3119A>T (p.Asn1040Ile) c.119A>T (p.Asn40Ile) c.3086A>T (p.Asn1029Ile) c.1877-133A>T n.870-4457T>A c.2732A>T (p.Asn911Ile) c.2375A>T (p.Asn792Ile) | |
2 | g.166272631T>C | CA349073788 | SCN1A-AS1,SCN9A | c.3119A>G (p.Asn1040Ser) c.119A>G (p.Asn40Ser) c.3086A>G (p.Asn1029Ser) c.1877-133A>G n.870-4457T>C c.2732A>G (p.Asn911Ser) c.2375A>G (p.Asn792Ser) | |
2 | g.166272631T>G | CA349073791 | SCN1A-AS1,SCN9A | c.3119A>C (p.Asn1040Thr) c.119A>C (p.Asn40Thr) c.3086A>C (p.Asn1029Thr) c.1877-133A>C n.870-4457T>G c.2732A>C (p.Asn911Thr) c.2375A>C (p.Asn792Thr) | |
2 | g.166272632T>A | CA349073793 | SCN1A-AS1,SCN9A | c.3118A>T (p.Asn1040Tyr) c.118A>T (p.Asn40Tyr) c.3085A>T (p.Asn1029Tyr) c.1877-134A>T n.870-4456T>A c.2731A>T (p.Asn911Tyr) c.2374A>T (p.Asn792Tyr) | |
2 | g.166272632T>C | CA349073795 | SCN1A-AS1,SCN9A | c.3118A>G (p.Asn1040Asp) c.118A>G (p.Asn40Asp) c.3085A>G (p.Asn1029Asp) c.1877-134A>G n.870-4456T>C c.2731A>G (p.Asn911Asp) c.2374A>G (p.Asn792Asp) | |
2 | g.166272632T>G | CA349073797 | SCN1A-AS1,SCN9A | c.3118A>C (p.Asn1040His) c.118A>C (p.Asn40His) c.3085A>C (p.Asn1029His) c.1877-134A>C n.870-4456T>G c.2731A>C (p.Asn911His) c.2374A>C (p.Asn792His) | |
2 | g.166272633A>C | CA429978138 | SCN1A-AS1,SCN9A | c.3117T>G (p.Ser1039=) c.117T>G (p.Ser39=) c.3084T>G (p.Ser1028=) c.1877-135T>G n.870-4455A>C c.2730T>G (p.Ser910=) c.2373T>G (p.Ser791=) | |
2 | g.166272633A>G | CA429978141 | SCN1A-AS1,SCN9A | c.3117T>C (p.Ser1039=) c.117T>C (p.Ser39=) c.3084T>C (p.Ser1028=) c.1877-135T>C n.870-4455A>G c.2730T>C (p.Ser910=) c.2373T>C (p.Ser791=) | |
2 | g.166272633A>T | CA429978144 | SCN1A-AS1,SCN9A | c.3117T>A (p.Ser1039=) c.117T>A (p.Ser39=) c.3084T>A (p.Ser1028=) c.1877-135T>A n.870-4455A>T c.2730T>A (p.Ser910=) c.2373T>A (p.Ser791=) | |
2 | g.166272634G>A | CA349073802 | SCN1A-AS1,SCN9A | c.3116C>T (p.Ser1039Phe) c.116C>T (p.Ser39Phe) c.3083C>T (p.Ser1028Phe) c.1877-136C>T n.870-4454G>A c.2729C>T (p.Ser910Phe) c.2372C>T (p.Ser791Phe) | |
2 | g.166272634G>C | CA349073804 | SCN1A-AS1,SCN9A | c.3116C>G (p.Ser1039Cys) c.116C>G (p.Ser39Cys) c.3083C>G (p.Ser1028Cys) c.1877-136C>G n.870-4454G>C c.2729C>G (p.Ser910Cys) c.2372C>G (p.Ser791Cys) | |
2 | g.166272634G>T | CA349073806 | SCN1A-AS1,SCN9A | c.3116C>A (p.Ser1039Tyr) c.116C>A (p.Ser39Tyr) c.3083C>A (p.Ser1028Tyr) c.1877-136C>A n.870-4454G>T c.2729C>A (p.Ser910Tyr) c.2372C>A (p.Ser791Tyr) | |
2 | g.166272635A>C | CA349073811 | SCN1A-AS1,SCN9A | c.3115T>G (p.Ser1039Ala) c.115T>G (p.Ser39Ala) c.3082T>G (p.Ser1028Ala) c.1877-137T>G n.870-4453A>C c.2728T>G (p.Ser910Ala) c.2371T>G (p.Ser791Ala) | |
2 | g.166272635A>G | CA349073810 | SCN1A-AS1,SCN9A | c.3115T>C (p.Ser1039Pro) c.115T>C (p.Ser39Pro) c.3082T>C (p.Ser1028Pro) c.1877-137T>C n.870-4453A>G c.2728T>C (p.Ser910Pro) c.2371T>C (p.Ser791Pro) | |
2 | g.166272635A>T | CA349073809 | SCN1A-AS1,SCN9A | c.3115T>A (p.Ser1039Thr) c.115T>A (p.Ser39Thr) c.3082T>A (p.Ser1028Thr) c.1877-137T>A n.870-4453A>T c.2728T>A (p.Ser910Thr) c.2371T>A (p.Ser791Thr) | |
2 | g.166272636A>C | CA349073812 | SCN1A-AS1,SCN9A | c.3114T>G (p.Ile1038Met) c.114T>G (p.Ile38Met) c.3081T>G (p.Ile1027Met) c.1877-138T>G n.870-4452A>C c.2727T>G (p.Ile909Met) c.2370T>G (p.Ile790Met) | |
2 | g.166272636A>G | CA429978149 | SCN1A-AS1,SCN9A | c.3114T>C (p.Ile1038=) c.114T>C (p.Ile38=) c.3081T>C (p.Ile1027=) c.1877-138T>C n.870-4452A>G c.2727T>C (p.Ile909=) c.2370T>C (p.Ile790=) | |
2 | g.166272636A>T | CA429978151 | SCN1A-AS1,SCN9A | c.3114T>A (p.Ile1038=) c.114T>A (p.Ile38=) c.3081T>A (p.Ile1027=) c.1877-138T>A n.870-4452A>T c.2727T>A (p.Ile909=) c.2370T>A (p.Ile790=) | COSMIC COSMIC |