Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166276959del | CA2661767141 | SCN1A-AS1,SCN9A | c.2874+27del (n.2874+27del) c.2841+27del (n.2841+27del) c.558del (p.Phe186LeufsTer28) c.1876+27del n.870-129del c.2487+27del (n.2487+27del) c.2130+27del (n.2130+27del) n.3188+27del | gnomAD v4 |
2 | g.166276959A= | CA1304964635 | SCN1A-AS1,SCN9A | c.2874+24T= (n.2874+24T=) c.2841+24T= (n.2841+24T=) c.555T= (p.His185=) c.1876+24T= n.870-129A= c.2487+24T= (n.2487+24T=) c.2130+24T= (n.2130+24T=) n.3188+24T= | |
2 | g.166276959A>G | CA1944184 | SCN1A-AS1,SCN9A | c.2874+24T>C (n.2874+24T>C) c.2841+24T>C (n.2841+24T>C) c.555T>C (p.His185=) c.1876+24T>C n.870-129A>G c.2487+24T>C (n.2487+24T>C) c.2130+24T>C (n.2130+24T>C) n.3188+24T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166276961G= | CA1304964636 | SCN1A-AS1,SCN9A | c.2874+22C= (n.2874+22C=) c.2841+22C= (n.2841+22C=) c.553C= (p.His185=) c.1876+22C= n.870-127G= c.2487+22C= (n.2487+22C=) c.2130+22C= (n.2130+22C=) n.3188+22C= | |
2 | g.166276961G>T | CA59794402 | SCN1A-AS1,SCN9A | c.2874+22C>A (n.2874+22C>A) c.2841+22C>A (n.2841+22C>A) c.553C>A (p.His185Asn) c.1876+22C>A n.870-127G>T c.2487+22C>A (n.2487+22C>A) c.2130+22C>A (n.2130+22C>A) n.3188+22C>A | dbSNP gnomAD v4 |
2 | g.166276962C>T | CA2661767142 | SCN1A-AS1,SCN9A | c.2874+21G>A (n.2874+21G>A) c.2841+21G>A (n.2841+21G>A) c.552G>A (p.Met184Ile) c.1876+21G>A n.870-126C>T c.2487+21G>A (n.2487+21G>A) c.2130+21G>A (n.2130+21G>A) n.3188+21G>A | dbSNP gnomAD v4 |
2 | g.166276963A= | CA1304964637 | SCN1A-AS1,SCN9A | c.2874+20T= (n.2874+20T=) c.2841+20T= (n.2841+20T=) c.551T= (p.Met184=) c.1876+20T= n.870-125A= c.2487+20T= (n.2487+20T=) c.2130+20T= (n.2130+20T=) n.3188+20T= | |
2 | g.166276963A>G | CA1944185 | SCN1A-AS1,SCN9A | c.2874+20T>C (n.2874+20T>C) c.2841+20T>C (n.2841+20T>C) c.551T>C (p.Met184Thr) c.1876+20T>C n.870-125A>G c.2487+20T>C (n.2487+20T>C) c.2130+20T>C (n.2130+20T>C) n.3188+20T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166276963A>T | CA2661767143 | SCN1A-AS1,SCN9A | c.2874+20T>A (n.2874+20T>A) c.2841+20T>A (n.2841+20T>A) c.551T>A (p.Met184Lys) c.1876+20T>A n.870-125A>T c.2487+20T>A (n.2487+20T>A) c.2130+20T>A (n.2130+20T>A) n.3188+20T>A | gnomAD v4 |
2 | g.166276964T>C | CA1944186 | SCN1A-AS1,SCN9A | c.2874+19A>G (n.2874+19A>G) c.2841+19A>G (n.2841+19A>G) c.550A>G (p.Met184Val) c.1876+19A>G n.870-124T>C c.2487+19A>G (n.2487+19A>G) c.2130+19A>G (n.2130+19A>G) n.3188+19A>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.166276964T= | CA1304964638 | SCN1A-AS1,SCN9A | c.2874+19A= (n.2874+19A=) c.2841+19A= (n.2841+19A=) c.550A= (p.Met184=) c.1876+19A= n.870-124T= c.2487+19A= (n.2487+19A=) c.2130+19A= (n.2130+19A=) n.3188+19A= | |
2 | g.166276965G>A | CA2701016593 | SCN1A-AS1,SCN9A | c.2874+18C>T (n.2874+18C>T) c.2841+18C>T (n.2841+18C>T) c.549C>T (p.Phe183=) c.1876+18C>T n.870-123G>A c.2487+18C>T (n.2487+18C>T) c.2130+18C>T (n.2130+18C>T) n.3188+18C>T | dbSNP |
2 | g.166276965G>T | CA2661767144 | SCN1A-AS1,SCN9A | c.2874+18C>A (n.2874+18C>A) c.2841+18C>A (n.2841+18C>A) c.549C>A (p.Phe183Leu) c.1876+18C>A n.870-123G>T c.2487+18C>A (n.2487+18C>A) c.2130+18C>A (n.2130+18C>A) n.3188+18C>A | gnomAD v4 |
2 | g.166276967A>G | CA2661767145 | SCN1A-AS1,SCN9A | c.2874+16T>C (n.2874+16T>C) c.2841+16T>C (n.2841+16T>C) c.547T>C (p.Phe183Leu) c.1876+16T>C n.870-121A>G c.2487+16T>C (n.2487+16T>C) c.2130+16T>C (n.2130+16T>C) n.3188+16T>C | gnomAD v4 |
2 | g.166276968C= | CA1304964639 | SCN1A-AS1,SCN9A | c.2874+15G= (n.2874+15G=) c.2841+15G= (n.2841+15G=) c.546G= (p.Met182=) c.1876+15G= n.870-120C= c.2487+15G= (n.2487+15G=) c.2130+15G= (n.2130+15G=) n.3188+15G= | |
2 | g.166276968C>T | CA1944187 | SCN1A-AS1,SCN9A | c.2874+15G>A (n.2874+15G>A) c.2841+15G>A (n.2841+15G>A) c.546G>A (p.Met182Ile) c.1876+15G>A n.870-120C>T c.2487+15G>A (n.2487+15G>A) c.2130+15G>A (n.2130+15G>A) n.3188+15G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166276969A= | CA1304964642 | SCN1A-AS1,SCN9A | c.2874+14T= (n.2874+14T=) c.2841+14T= (n.2841+14T=) c.545T= (p.Met182=) c.1876+14T= n.870-119A= c.2487+14T= (n.2487+14T=) c.2130+14T= (n.2130+14T=) n.3188+14T= | |
2 | g.166276969A>G | CA1304964643 | SCN1A-AS1,SCN9A | c.2874+14T>C (n.2874+14T>C) c.2841+14T>C (n.2841+14T>C) c.545T>C (p.Met182Thr) c.1876+14T>C n.870-119A>G c.2487+14T>C (n.2487+14T>C) c.2130+14T>C (n.2130+14T>C) n.3188+14T>C | dbSNP |
2 | g.166276969_166276970delinsAT | CA1304964640 | SCN1A-AS1,SCN9A | c.2874+13_2874+14delinsAT (n.2874+13_2874+14delinsAT) c.2841+13_2841+14delinsAT (n.2841+13_2841+14delinsAT) c.544_545delinsAT (p.Met182=) c.1876+13_1876+14delinsAT n.870-119_870-118delinsAT c.2487+13_2487+14delinsAT (n.2487+13_2487+14delinsAT) c.2130+13_2130+14delinsAT (n.2130+13_2130+14delinsAT) n.3188+13_3188+14delinsAT | |
2 | g.166276969_166276972delinsATCT | CA1304964641 | SCN1A-AS1,SCN9A | c.2874+11_2874+14delinsAGAT (n.2874+11_2874+14delinsAGAT) c.2841+11_2841+14delinsAGAT (n.2841+11_2841+14delinsAGAT) c.542_545delinsAGAT (p.Gln181=) c.1876+11_1876+14delinsAGAT n.870-119_870-116delinsATCT c.2487+11_2487+14delinsAGAT (n.2487+11_2487+14delinsAGAT) c.2130+11_2130+14delinsAGAT (n.2130+11_2130+14delinsAGAT) n.3188+11_3188+14delinsAGAT | |
2 | g.166276970del | CA10612806 | SCN1A-AS1,SCN9A | c.2874+13del (n.2874+13del) c.2841+13del (n.2841+13del) c.544del (p.Met182CysfsTer?) c.1876+13del n.870-118del c.2487+13del (n.2487+13del) c.2130+13del (n.2130+13del) n.3188+13del | ClinVar dbSNP |
2 | g.166276970T>A | CA59794415 | SCN1A-AS1,SCN9A | c.2874+13A>T (n.2874+13A>T) c.2841+13A>T (n.2841+13A>T) c.544A>T (p.Met182Leu) c.1876+13A>T n.870-118T>A c.2487+13A>T (n.2487+13A>T) c.2130+13A>T (n.2130+13A>T) n.3188+13A>T | dbSNP |
2 | g.166276970T>C | CA2661767146 | SCN1A-AS1,SCN9A | c.2874+13A>G (n.2874+13A>G) c.2841+13A>G (n.2841+13A>G) c.544A>G (p.Met182Val) c.1876+13A>G n.870-118T>C c.2487+13A>G (n.2487+13A>G) c.2130+13A>G (n.2130+13A>G) n.3188+13A>G | gnomAD v4 |
2 | g.166276970T= | CA1304964645 | SCN1A-AS1,SCN9A | c.2874+13A= (n.2874+13A=) c.2841+13A= (n.2841+13A=) c.544A= (p.Met182=) c.1876+13A= n.870-118T= c.2487+13A= (n.2487+13A=) c.2130+13A= (n.2130+13A=) n.3188+13A= | |
2 | g.166276970dup | CA2701016594 | SCN1A-AS1,SCN9A | c.2874+13dup (n.2874+13dup) c.2841+13dup (n.2841+13dup) c.544dup (p.Met182AsnfsTer6) c.1876+13dup n.870-118dup c.2487+13dup (n.2487+13dup) c.2130+13dup (n.2130+13dup) n.3188+13dup | dbSNP |
2 | g.166276970_166276971delinsTC | CA1304964644 | SCN1A-AS1,SCN9A | c.2874+12_2874+13delinsGA (n.2874+12_2874+13delinsGA) c.2841+12_2841+13delinsGA (n.2841+12_2841+13delinsGA) c.543_544delinsGA (p.Gln181=) c.1876+12_1876+13delinsGA n.870-118_870-117delinsTC c.2487+12_2487+13delinsGA (n.2487+12_2487+13delinsGA) c.2130+12_2130+13delinsGA (n.2130+12_2130+13delinsGA) n.3188+12_3188+13delinsGA | |
2 | g.166276970_166276972del | CA1944188 | SCN1A-AS1,SCN9A | c.2874+11_2874+13del (n.2874+11_2874+13del) c.2841+11_2841+13del (n.2841+11_2841+13del) c.542_544del (p.Gln181_Met182delinsLeu) c.1876+11_1876+13del n.870-118_870-116del c.2487+11_2487+13del (n.2487+11_2487+13del) c.2130+11_2130+13del (n.2130+11_2130+13del) n.3188+11_3188+13del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166276970_166276972delinsAA | CA10586791 | SCN1A-AS1,SCN9A | c.2874+11_2874+13delinsTT (n.2874+11_2874+13delinsTT) c.2841+11_2841+13delinsTT (n.2841+11_2841+13delinsTT) c.542_544delinsTT (p.Gln181LeufsTer?) c.1876+11_1876+13delinsTT n.870-118_870-116delinsAA c.2487+11_2487+13delinsTT (n.2487+11_2487+13delinsTT) c.2130+11_2130+13delinsTT (n.2130+11_2130+13delinsTT) n.3188+11_3188+13delinsTT | ClinVar dbSNP |
2 | g.166276971del | CA349076689 | SCN1A-AS1,SCN9A | c.2874+12del (n.2874+12del) c.2841+12del (n.2841+12del) c.543del (p.Met182CysfsTer?) c.1876+12del n.870-117del c.2487+12del (n.2487+12del) c.2130+12del (n.2130+12del) n.3188+12del | dbSNP |
2 | g.166276971C>A | CA59794418 | SCN1A-AS1,SCN9A | c.2874+12G>T (n.2874+12G>T) c.2841+12G>T (n.2841+12G>T) c.543G>T (p.Gln181His) c.1876+12G>T n.870-117C>A c.2487+12G>T (n.2487+12G>T) c.2130+12G>T (n.2130+12G>T) n.3188+12G>T | ClinVar dbSNP |
2 | g.166276971C= | CA1304964646 | SCN1A-AS1,SCN9A | c.2874+12G= (n.2874+12G=) c.2841+12G= (n.2841+12G=) c.543G= (p.Gln181=) c.1876+12G= n.870-117C= c.2487+12G= (n.2487+12G=) c.2130+12G= (n.2130+12G=) n.3188+12G= | |
2 | g.166276971C>G | CA1304964647 | SCN1A-AS1,SCN9A | c.2874+12G>C (n.2874+12G>C) c.2841+12G>C (n.2841+12G>C) c.543G>C (p.Gln181His) c.1876+12G>C n.870-117C>G c.2487+12G>C (n.2487+12G>C) c.2130+12G>C (n.2130+12G>C) n.3188+12G>C | ClinVar dbSNP gnomAD v4 |
2 | g.166276971delinsAA | CA2580614406 | SCN1A-AS1,SCN9A | c.2874+12delinsTT (n.2874+12delinsTT) c.2841+12delinsTT (n.2841+12delinsTT) c.543delinsTT (p.Gln181HisfsTer7) c.1876+12delinsTT n.870-117delinsAA c.2487+12delinsTT (n.2487+12delinsTT) c.2130+12delinsTT (n.2130+12delinsTT) n.3188+12delinsTT | ClinVar |
2 | g.166276971_166276972delinsCT | CA1304964648 | SCN1A-AS1,SCN9A | c.2874+11_2874+12delinsAG (n.2874+11_2874+12delinsAG) c.2841+11_2841+12delinsAG (n.2841+11_2841+12delinsAG) c.542_543delinsAG (p.Gln181=) c.1876+11_1876+12delinsAG n.870-117_870-116delinsCT c.2487+11_2487+12delinsAG (n.2487+11_2487+12delinsAG) c.2130+11_2130+12delinsAG (n.2130+11_2130+12delinsAG) n.3188+11_3188+12delinsAG | |
2 | g.166276972del | CA760208964 | SCN1A-AS1,SCN9A | c.2874+11del (n.2874+11del) c.2841+11del (n.2841+11del) c.542del (p.Gln181ArgfsTer?) c.1876+11del n.870-116del c.2487+11del (n.2487+11del) c.2130+11del (n.2130+11del) n.3188+11del | dbSNP |
2 | g.166276972T>A | CA59794424 | SCN1A-AS1,SCN9A | c.2874+11A>T (n.2874+11A>T) c.2841+11A>T (n.2841+11A>T) c.542A>T (p.Gln181Leu) c.1876+11A>T n.870-116T>A c.2487+11A>T (n.2487+11A>T) c.2130+11A>T (n.2130+11A>T) n.3188+11A>T | ClinVar dbSNP |
2 | g.166276972T= | CA1304964649 | SCN1A-AS1,SCN9A | c.2874+11A= (n.2874+11A=) c.2841+11A= (n.2841+11A=) c.542A= (p.Gln181=) c.1876+11A= n.870-116T= c.2487+11A= (n.2487+11A=) c.2130+11A= (n.2130+11A=) n.3188+11A= | |
2 | g.166276972_166276973insAA | CA1944189 | SCN1A-AS1,SCN9A | c.2874+10_2874+11insTT (n.2874+10_2874+11insTT) c.2841+10_2841+11insTT (n.2841+10_2841+11insTT) c.541_542insTT (p.Gln181LeufsTer?) c.1876+10_1876+11insTT n.870-116_870-115insAA c.2487+10_2487+11insTT (n.2487+10_2487+11insTT) c.2130+10_2130+11insTT (n.2130+10_2130+11insTT) n.3188+10_3188+11insTT | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166276973G>A | CA760208972 | SCN1A-AS1,SCN9A | c.2874+10C>T (n.2874+10C>T) c.2841+10C>T (n.2841+10C>T) c.541C>T (p.Gln181Ter) c.1876+10C>T n.870-115G>A c.2487+10C>T (n.2487+10C>T) c.2130+10C>T (n.2130+10C>T) n.3188+10C>T | dbSNP gnomAD v4 |
2 | g.166276973G>C | CA2577144977 | SCN1A-AS1,SCN9A | c.2874+10C>G (n.2874+10C>G) c.2841+10C>G (n.2841+10C>G) c.541C>G (p.Gln181Glu) c.1876+10C>G n.870-115G>C c.2487+10C>G (n.2487+10C>G) c.2130+10C>G (n.2130+10C>G) n.3188+10C>G | |
2 | g.166276973G= | CA1304964650 | SCN1A-AS1,SCN9A | c.2874+10C= (n.2874+10C=) c.2841+10C= (n.2841+10C=) c.541C= (p.Gln181=) c.1876+10C= n.870-115G= c.2487+10C= (n.2487+10C=) c.2130+10C= (n.2130+10C=) n.3188+10C= | |
2 | g.166276974G>A | CA2661767147 | SCN1A-AS1,SCN9A | c.2874+9C>T (n.2874+9C>T) c.2841+9C>T (n.2841+9C>T) c.540C>T (p.Asn180=) c.1876+9C>T n.870-114G>A c.2487+9C>T (n.2487+9C>T) c.2130+9C>T (n.2130+9C>T) n.3188+9C>T | ClinVar gnomAD v4 |
2 | g.166276978C>T | CA2586970946 | SCN1A-AS1,SCN9A | c.2874+5G>A (n.2874+5G>A) c.2841+5G>A (n.2841+5G>A) c.536G>A (p.Cys179Tyr) c.1876+5G>A n.870-110C>T c.2487+5G>A (n.2487+5G>A) c.2130+5G>A (n.2130+5G>A) n.3188+5G>A | |
2 | g.166276979A= | CA1304964651 | SCN1A-AS1,SCN9A | c.2874+4T= (n.2874+4T=) c.2841+4T= (n.2841+4T=) c.535T= (p.Cys179=) c.1876+4T= n.870-109A= c.2487+4T= (n.2487+4T=) c.2130+4T= (n.2130+4T=) n.3188+4T= | |
2 | g.166276979A>G | CA1944190 | SCN1A-AS1,SCN9A | c.2874+4T>C (n.2874+4T>C) c.2841+4T>C (n.2841+4T>C) c.535T>C (p.Cys179Arg) c.1876+4T>C n.870-109A>G c.2487+4T>C (n.2487+4T>C) c.2130+4T>C (n.2130+4T>C) n.3188+4T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166276981A>C | CA349076695 | SCN1A-AS1,SCN9A | c.2874+2T>G (n.2874+2T>G) c.2841+2T>G (n.2841+2T>G) c.533T>G (p.Val178Gly) c.1876+2T>G n.870-107A>C c.2487+2T>G (n.2487+2T>G) c.2130+2T>G (n.2130+2T>G) n.3188+2T>G | |
2 | g.166276981A>G | CA349076697 | SCN1A-AS1,SCN9A | c.2874+2T>C (n.2874+2T>C) c.2841+2T>C (n.2841+2T>C) c.533T>C (p.Val178Ala) c.1876+2T>C n.870-107A>G c.2487+2T>C (n.2487+2T>C) c.2130+2T>C (n.2130+2T>C) n.3188+2T>C | |
2 | g.166276981A>T | CA349076700 | SCN1A-AS1,SCN9A | c.2874+2T>A (n.2874+2T>A) c.2841+2T>A (n.2841+2T>A) c.533T>A (p.Val178Glu) c.1876+2T>A n.870-107A>T c.2487+2T>A (n.2487+2T>A) c.2130+2T>A (n.2130+2T>A) n.3188+2T>A | |
2 | g.166276982C>A | CA349076712 | SCN1A-AS1,SCN9A | c.2874+1G>T (n.2874+1G>T) c.2841+1G>T (n.2841+1G>T) c.532G>T (p.Val178Leu) c.1876+1G>T n.870-106C>A c.2487+1G>T (n.2487+1G>T) c.2130+1G>T (n.2130+1G>T) n.3188+1G>T | |
2 | g.166276982C= | CA1304964652 | SCN1A-AS1,SCN9A | c.2874+1G= (n.2874+1G=) c.2841+1G= (n.2841+1G=) c.532G= (p.Val178=) c.1876+1G= n.870-106C= c.2487+1G= (n.2487+1G=) c.2130+1G= (n.2130+1G=) n.3188+1G= | |
2 | g.166276982C>G | CA349076719 | SCN1A-AS1,SCN9A | c.2874+1G>C (n.2874+1G>C) c.2841+1G>C (n.2841+1G>C) c.532G>C (p.Val178Leu) c.1876+1G>C n.870-106C>G c.2487+1G>C (n.2487+1G>C) c.2130+1G>C (n.2130+1G>C) n.3188+1G>C | |
2 | g.166276982C>T | CA1944191 | SCN1A-AS1,SCN9A | c.2874+1G>A (n.2874+1G>A) c.2841+1G>A (n.2841+1G>A) c.532G>A (p.Val178Ile) c.1876+1G>A n.870-106C>T c.2487+1G>A (n.2487+1G>A) c.2130+1G>A (n.2130+1G>A) n.3188+1G>A | dbSNP ExAC gnomAD v2 |
2 | g.166276983C>A | CA429900805 | SCN1A-AS1,SCN9A | c.2874G>T (p.Val958=) c.2841G>T (p.Val947=) c.531G>T (p.Val177=) c.1876G>T n.870-105C>A c.2487G>T (p.Val829=) c.2130G>T (p.Val710=) n.3188G>T | |
2 | g.166276983C>G | CA429900808 | SCN1A-AS1,SCN9A | c.2874G>C (p.Val958=) c.2841G>C (p.Val947=) c.531G>C (p.Val177=) c.1876G>C n.870-105C>G c.2487G>C (p.Val829=) c.2130G>C (p.Val710=) n.3188G>C | |
2 | g.166276983C>T | CA429900809 | SCN1A-AS1,SCN9A | c.2874G>A (p.Val958=) c.2841G>A (p.Val947=) c.531G>A (p.Val177=) c.1876G>A n.870-105C>T c.2487G>A (p.Val829=) c.2130G>A (p.Val710=) n.3188G>A | |
2 | g.166276984A>C | CA349076727 | SCN1A-AS1,SCN9A | c.2873T>G (p.Val958Gly) c.2840T>G (p.Val947Gly) c.530T>G (p.Val177Gly) c.1875T>G n.870-104A>C c.2486T>G (p.Val829Gly) c.2129T>G (p.Val710Gly) n.3187T>G | |
2 | g.166276984A>G | CA349076732 | SCN1A-AS1,SCN9A | c.2873T>C (p.Val958Ala) c.2840T>C (p.Val947Ala) c.530T>C (p.Val177Ala) c.1875T>C n.870-104A>G c.2486T>C (p.Val829Ala) c.2129T>C (p.Val710Ala) n.3187T>C | |
2 | g.166276984A>T | CA349076728 | SCN1A-AS1,SCN9A | c.2873T>A (p.Val958Glu) c.2840T>A (p.Val947Glu) c.530T>A (p.Val177Glu) c.1875T>A n.870-104A>T c.2486T>A (p.Val829Glu) c.2129T>A (p.Val710Glu) n.3187T>A | |
2 | g.166276985C>A | CA349076734 | SCN1A-AS1,SCN9A | c.2872G>T (p.Val958Leu) c.2839G>T (p.Val947Leu) c.529G>T (p.Val177Leu) c.1874G>T n.870-103C>A c.2485G>T (p.Val829Leu) c.2128G>T (p.Val710Leu) n.3186G>T | |
2 | g.166276985C>G | CA349076737 | SCN1A-AS1,SCN9A | c.2872G>C (p.Val958Leu) c.2839G>C (p.Val947Leu) c.529G>C (p.Val177Leu) c.1874G>C n.870-103C>G c.2485G>C (p.Val829Leu) c.2128G>C (p.Val710Leu) n.3186G>C | |
2 | g.166276985C>T | CA349076738 | SCN1A-AS1,SCN9A | c.2872G>A (p.Val958Met) c.2839G>A (p.Val947Met) c.529G>A (p.Val177Met) c.1874G>A n.870-103C>T c.2485G>A (p.Val829Met) c.2128G>A (p.Val710Met) n.3186G>A | |
2 | g.166276986C>A | CA429900813 | SCN1A-AS1,SCN9A | c.2871G>T (p.Leu957=) c.2838G>T (p.Leu946=) c.528G>T (p.Leu176=) c.1873G>T n.870-102C>A c.2484G>T (p.Leu828=) c.2127G>T (p.Leu709=) n.3185G>T | |
2 | g.166276986C>G | CA429900814 | SCN1A-AS1,SCN9A | c.2871G>C (p.Leu957=) c.2838G>C (p.Leu946=) c.528G>C (p.Leu176=) c.1873G>C n.870-102C>G c.2484G>C (p.Leu828=) c.2127G>C (p.Leu709=) n.3185G>C | gnomAD v4 |
2 | g.166276986C>T | CA429900815 | SCN1A-AS1,SCN9A | c.2871G>A (p.Leu957=) c.2838G>A (p.Leu946=) c.528G>A (p.Leu176=) c.1873G>A n.870-102C>T c.2484G>A (p.Leu828=) c.2127G>A (p.Leu709=) n.3185G>A | |
2 | g.166276987A>C | CA349076740 | SCN1A-AS1,SCN9A | c.2870T>G (p.Leu957Arg) c.2837T>G (p.Leu946Arg) c.527T>G (p.Leu176Arg) c.1872T>G n.870-101A>C c.2483T>G (p.Leu828Arg) c.2126T>G (p.Leu709Arg) n.3184T>G | |
2 | g.166276987A>G | CA349076745 | SCN1A-AS1,SCN9A | c.2870T>C (p.Leu957Pro) c.2837T>C (p.Leu946Pro) c.527T>C (p.Leu176Pro) c.1872T>C n.870-101A>G c.2483T>C (p.Leu828Pro) c.2126T>C (p.Leu709Pro) n.3184T>C | COSMIC COSMIC |
2 | g.166276987A>T | CA349076747 | SCN1A-AS1,SCN9A | c.2870T>A (p.Leu957Gln) c.2837T>A (p.Leu946Gln) c.527T>A (p.Leu176Gln) c.1872T>A n.870-101A>T c.2483T>A (p.Leu828Gln) c.2126T>A (p.Leu709Gln) n.3184T>A | |
2 | g.166276988G>A | CA429900818 | SCN1A-AS1,SCN9A | c.2869C>T (p.Leu957=) c.2836C>T (p.Leu946=) c.526C>T (p.Leu176=) c.1871C>T n.870-100G>A c.2482C>T (p.Leu828=) c.2125C>T (p.Leu709=) n.3183C>T | ClinVar |
2 | g.166276988G>C | CA349076748 | SCN1A-AS1,SCN9A | c.2869C>G (p.Leu957Val) c.2836C>G (p.Leu946Val) c.526C>G (p.Leu176Val) c.1871C>G n.870-100G>C c.2482C>G (p.Leu828Val) c.2125C>G (p.Leu709Val) n.3183C>G | |
2 | g.166276988G>T | CA349076752 | SCN1A-AS1,SCN9A | c.2869C>A (p.Leu957Met) c.2836C>A (p.Leu946Met) c.526C>A (p.Leu176Met) c.1871C>A n.870-100G>T c.2482C>A (p.Leu828Met) c.2125C>A (p.Leu709Met) n.3183C>A | |
2 | g.166276989G>A | CA429900823 | SCN1A-AS1,SCN9A | c.2868C>T (p.Asn956=) c.2835C>T (p.Asn945=) c.525C>T (p.Asn175=) c.1870C>T n.870-99G>A c.2481C>T (p.Asn827=) c.2124C>T (p.Asn708=) n.3182C>T | ClinVar |
2 | g.166276989G>C | CA349076757 | SCN1A-AS1,SCN9A | c.2868C>G (p.Asn956Lys) c.2835C>G (p.Asn945Lys) c.525C>G (p.Asn175Lys) c.1870C>G n.870-99G>C c.2481C>G (p.Asn827Lys) c.2124C>G (p.Asn708Lys) n.3182C>G | |
2 | g.166276989G>T | CA349076758 | SCN1A-AS1,SCN9A | c.2868C>A (p.Asn956Lys) c.2835C>A (p.Asn945Lys) c.525C>A (p.Asn175Lys) c.1870C>A n.870-99G>T c.2481C>A (p.Asn827Lys) c.2124C>A (p.Asn708Lys) n.3182C>A | |
2 | g.166276990T>A | CA349076767 | SCN1A-AS1,SCN9A | c.2867A>T (p.Asn956Ile) c.2834A>T (p.Asn945Ile) c.524A>T (p.Asn175Ile) c.1869A>T n.870-98T>A c.2480A>T (p.Asn827Ile) c.2123A>T (p.Asn708Ile) n.3181A>T | dbSNP |
2 | g.166276990T>C | CA349076764 | SCN1A-AS1,SCN9A | c.2867A>G (p.Asn956Ser) c.2834A>G (p.Asn945Ser) c.524A>G (p.Asn175Ser) c.1869A>G n.870-98T>C c.2480A>G (p.Asn827Ser) c.2123A>G (p.Asn708Ser) n.3181A>G | gnomAD v4 |
2 | g.166276990T>G | CA349076762 | SCN1A-AS1,SCN9A | c.2867A>C (p.Asn956Thr) c.2834A>C (p.Asn945Thr) c.524A>C (p.Asn175Thr) c.1869A>C n.870-98T>G c.2480A>C (p.Asn827Thr) c.2123A>C (p.Asn708Thr) n.3181A>C | |
2 | g.166276990T= | CA1304964653 | SCN1A-AS1,SCN9A | c.2867A= (p.Asn956=) c.2834A= (p.Asn945=) c.524A= (p.Asn175=) c.1869A= n.870-98T= c.2480A= (p.Asn827=) c.2123A= (p.Asn708=) n.3181A= | |
2 | g.166276991T>A | CA349076772 | SCN1A-AS1,SCN9A | c.2866A>T (p.Asn956Tyr) c.2833A>T (p.Asn945Tyr) c.523A>T (p.Asn175Tyr) c.1868A>T n.870-97T>A c.2479A>T (p.Asn827Tyr) c.2122A>T (p.Asn708Tyr) n.3180A>T | |
2 | g.166276991T>C | CA349076774 | SCN1A-AS1,SCN9A | c.2866A>G (p.Asn956Asp) c.2833A>G (p.Asn945Asp) c.523A>G (p.Asn175Asp) c.1868A>G n.870-97T>C c.2479A>G (p.Asn827Asp) c.2122A>G (p.Asn708Asp) n.3180A>G | |
2 | g.166276991T>G | CA349076776 | SCN1A-AS1,SCN9A | c.2866A>C (p.Asn956His) c.2833A>C (p.Asn945His) c.523A>C (p.Asn175His) c.1868A>C n.870-97T>G c.2479A>C (p.Asn827His) c.2122A>C (p.Asn708His) n.3180A>C | |
2 | g.166276992T>A | CA429900835 | SCN1A-AS1,SCN9A | c.2865A>T (p.Gly955=) c.2832A>T (p.Gly944=) c.522A>T (p.Gly174=) c.1867A>T n.870-96T>A c.2478A>T (p.Gly826=) c.2121A>T (p.Gly707=) n.3179A>T | |
2 | g.166276992T>C | CA429900837 | SCN1A-AS1,SCN9A | c.2865A>G (p.Gly955=) c.2832A>G (p.Gly944=) c.522A>G (p.Gly174=) c.1867A>G n.870-96T>C c.2478A>G (p.Gly826=) c.2121A>G (p.Gly707=) n.3179A>G | |
2 | g.166276992T>G | CA429900834 | SCN1A-AS1,SCN9A | c.2865A>C (p.Gly955=) c.2832A>C (p.Gly944=) c.522A>C (p.Gly174=) c.1867A>C n.870-96T>G c.2478A>C (p.Gly826=) c.2121A>C (p.Gly707=) n.3179A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166276992T= | CA1304964654 | SCN1A-AS1,SCN9A | c.2865A= (p.Gly955=) c.2832A= (p.Gly944=) c.522A= (p.Gly174=) c.1867A= n.870-96T= c.2478A= (p.Gly826=) c.2121A= (p.Gly707=) n.3179A= | |
2 | g.166276993C>A | CA349076781 | SCN1A-AS1,SCN9A | c.2864G>T (p.Gly955Val) c.2831G>T (p.Gly944Val) c.521G>T (p.Gly174Val) c.1866G>T n.870-95C>A c.2477G>T (p.Gly826Val) c.2120G>T (p.Gly707Val) n.3178G>T | |
2 | g.166276993C>G | CA349076785 | SCN1A-AS1,SCN9A | c.2864G>C (p.Gly955Ala) c.2831G>C (p.Gly944Ala) c.521G>C (p.Gly174Ala) c.1866G>C n.870-95C>G c.2477G>C (p.Gly826Ala) c.2120G>C (p.Gly707Ala) n.3178G>C | |
2 | g.166276993C>T | CA349076788 | SCN1A-AS1,SCN9A | c.2864G>A (p.Gly955Glu) c.2831G>A (p.Gly944Glu) c.521G>A (p.Gly174Glu) c.1866G>A n.870-95C>T c.2477G>A (p.Gly826Glu) c.2120G>A (p.Gly707Glu) n.3178G>A | gnomAD v4 |
2 | g.166276994C>A | CA349076795 | SCN1A-AS1,SCN9A | c.2863G>T (p.Gly955Ter) c.2830G>T (p.Gly944Ter) c.520G>T (p.Gly174Ter) c.1865G>T n.870-94C>A c.2476G>T (p.Gly826Ter) c.2119G>T (p.Gly707Ter) n.3177G>T | dbSNP |
2 | g.166276994C= | CA1304964655 | SCN1A-AS1,SCN9A | c.2863G= (p.Gly955=) c.2830G= (p.Gly944=) c.520G= (p.Gly174=) c.1865G= n.870-94C= c.2476G= (p.Gly826=) c.2119G= (p.Gly707=) n.3177G= | |
2 | g.166276994C>G | CA349076798 | SCN1A-AS1,SCN9A | c.2863G>C (p.Gly955Arg) c.2830G>C (p.Gly944Arg) c.520G>C (p.Gly174Arg) c.1865G>C n.870-94C>G c.2476G>C (p.Gly826Arg) c.2119G>C (p.Gly707Arg) n.3177G>C | |
2 | g.166276994C>T | CA349076802 | SCN1A-AS1,SCN9A | c.2863G>A (p.Gly955Arg) c.2830G>A (p.Gly944Arg) c.520G>A (p.Gly174Arg) c.1865G>A n.870-94C>T c.2476G>A (p.Gly826Arg) c.2119G>A (p.Gly707Arg) n.3177G>A | |
2 | g.166276995_166277000dup | CA2661767148 | SCN1A-AS1,SCN9A | c.2858_2863dup (p.Ile954_Gly955insValIle) c.2825_2830dup (p.Ile943_Gly944insValIle) c.515_520dup (p.Ile173_Gly174insValIle) c.1860_1865dup n.870-93_870-88dup c.2471_2476dup (p.Ile825_Gly826insValIle) c.2114_2119dup (p.Ile706_Gly707insValIle) n.3172_3177dup | gnomAD v4 |
2 | g.166276995A>C | CA349076805 | SCN1A-AS1,SCN9A | c.2862T>G (p.Ile954Met) c.2829T>G (p.Ile943Met) c.519T>G (p.Ile173Met) c.1864T>G n.870-93A>C c.2475T>G (p.Ile825Met) c.2118T>G (p.Ile706Met) n.3176T>G | |
2 | g.166276995A>G | CA429977908 | SCN1A-AS1,SCN9A | c.2862T>C (p.Ile954=) c.2829T>C (p.Ile943=) c.519T>C (p.Ile173=) c.1864T>C n.870-93A>G c.2475T>C (p.Ile825=) c.2118T>C (p.Ile706=) n.3176T>C | |
2 | g.166276995A>T | CA429977906 | SCN1A-AS1,SCN9A | c.2862T>A (p.Ile954=) c.2829T>A (p.Ile943=) c.519T>A (p.Ile173=) c.1864T>A n.870-93A>T c.2475T>A (p.Ile825=) c.2118T>A (p.Ile706=) n.3176T>A | |
2 | g.166276996A= | CA1304964656 | SCN1A-AS1,SCN9A | c.2861T= (p.Ile954=) c.2828T= (p.Ile943=) c.518T= (p.Ile173=) c.1863T= n.870-92A= c.2474T= (p.Ile825=) c.2117T= (p.Ile706=) n.3175T= | |
2 | g.166276996A>C | CA349076811 | SCN1A-AS1,SCN9A | c.2861T>G (p.Ile954Ser) c.2828T>G (p.Ile943Ser) c.518T>G (p.Ile173Ser) c.1863T>G n.870-92A>C c.2474T>G (p.Ile825Ser) c.2117T>G (p.Ile706Ser) n.3175T>G | |
2 | g.166276996A>G | CA59794454 | SCN1A-AS1,SCN9A | c.2861T>C (p.Ile954Thr) c.2828T>C (p.Ile943Thr) c.518T>C (p.Ile173Thr) c.1863T>C n.870-92A>G c.2474T>C (p.Ile825Thr) c.2117T>C (p.Ile706Thr) n.3175T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166276996A>T | CA349076814 | SCN1A-AS1,SCN9A | c.2861T>A (p.Ile954Asn) c.2828T>A (p.Ile943Asn) c.518T>A (p.Ile173Asn) c.1863T>A n.870-92A>T c.2474T>A (p.Ile825Asn) c.2117T>A (p.Ile706Asn) n.3175T>A | |
2 | g.166276997T>A | CA349076822 | SCN1A-AS1,SCN9A | c.2860A>T (p.Ile954Phe) c.2827A>T (p.Ile943Phe) c.517A>T (p.Ile173Phe) c.1862A>T n.870-91T>A c.2473A>T (p.Ile825Phe) c.2116A>T (p.Ile706Phe) n.3174A>T | |
2 | g.166276997T>C | CA349076816 | SCN1A-AS1,SCN9A | c.2860A>G (p.Ile954Val) c.2827A>G (p.Ile943Val) c.517A>G (p.Ile173Val) c.1862A>G n.870-91T>C c.2473A>G (p.Ile825Val) c.2116A>G (p.Ile706Val) n.3174A>G | |
2 | g.166276997T>G | CA349076819 | SCN1A-AS1,SCN9A | c.2860A>C (p.Ile954Leu) c.2827A>C (p.Ile943Leu) c.517A>C (p.Ile173Leu) c.1862A>C n.870-91T>G c.2473A>C (p.Ile825Leu) c.2116A>C (p.Ile706Leu) n.3174A>C | |
2 | g.166276998G>A | CA429977912 | SCN1A-AS1,SCN9A | c.2859C>T (p.Val953=) c.2826C>T (p.Val942=) c.516C>T (p.Val172=) c.1861C>T n.870-90G>A c.2472C>T (p.Val824=) c.2115C>T (p.Val705=) n.3173C>T | ClinVar dbSNP gnomAD v4 |
2 | g.166276998G>C | CA429977919 | SCN1A-AS1,SCN9A | c.2859C>G (p.Val953=) c.2826C>G (p.Val942=) c.516C>G (p.Val172=) c.1861C>G n.870-90G>C c.2472C>G (p.Val824=) c.2115C>G (p.Val705=) n.3173C>G | |
2 | g.166276998G>T | CA429977915 | SCN1A-AS1,SCN9A | c.2859C>A (p.Val953=) c.2826C>A (p.Val942=) c.516C>A (p.Val172=) c.1861C>A n.870-90G>T c.2472C>A (p.Val824=) c.2115C>A (p.Val705=) n.3173C>A | |
2 | g.166276999A= | CA1304964657 | SCN1A-AS1,SCN9A | c.2858T= (p.Val953=) c.2825T= (p.Val942=) c.515T= (p.Val172=) c.1860T= n.870-89A= c.2471T= (p.Val824=) c.2114T= (p.Val705=) n.3172T= | |
2 | g.166276999A>C | CA349076826 | SCN1A-AS1,SCN9A | c.2858T>G (p.Val953Gly) c.2825T>G (p.Val942Gly) c.515T>G (p.Val172Gly) c.1860T>G n.870-89A>C c.2471T>G (p.Val824Gly) c.2114T>G (p.Val705Gly) n.3172T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166276999A>G | CA349076830 | SCN1A-AS1,SCN9A | c.2858T>C (p.Val953Ala) c.2825T>C (p.Val942Ala) c.515T>C (p.Val172Ala) c.1860T>C n.870-89A>G c.2471T>C (p.Val824Ala) c.2114T>C (p.Val705Ala) n.3172T>C | |
2 | g.166276999A>T | CA349076833 | SCN1A-AS1,SCN9A | c.2858T>A (p.Val953Asp) c.2825T>A (p.Val942Asp) c.515T>A (p.Val172Asp) c.1860T>A n.870-89A>T c.2471T>A (p.Val824Asp) c.2114T>A (p.Val705Asp) n.3172T>A | |
2 | g.166277000C>A | CA1944192 | SCN1A-AS1,SCN9A | c.2857G>T (p.Val953Phe) c.2824G>T (p.Val942Phe) c.514G>T (p.Val172Phe) c.1859G>T n.870-88C>A c.2470G>T (p.Val824Phe) c.2113G>T (p.Val705Phe) n.3171G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277000C= | CA1304964658 | SCN1A-AS1,SCN9A | c.2857G= (p.Val953=) c.2824G= (p.Val942=) c.514G= (p.Val172=) c.1859G= n.870-88C= c.2470G= (p.Val824=) c.2113G= (p.Val705=) n.3171G= | |
2 | g.166277000C>G | CA349076837 | SCN1A-AS1,SCN9A | c.2857G>C (p.Val953Leu) c.2824G>C (p.Val942Leu) c.514G>C (p.Val172Leu) c.1859G>C n.870-88C>G c.2470G>C (p.Val824Leu) c.2113G>C (p.Val705Leu) n.3171G>C | |
2 | g.166277000C>T | CA349076841 | SCN1A-AS1,SCN9A | c.2857G>A (p.Val953Ile) c.2824G>A (p.Val942Ile) c.514G>A (p.Val172Ile) c.1859G>A n.870-88C>T c.2470G>A (p.Val824Ile) c.2113G>A (p.Val705Ile) n.3171G>A | |
2 | g.166277001C>A | CA349076845 | SCN1A-AS1,SCN9A | c.2856G>T (p.Met952Ile) c.2823G>T (p.Met941Ile) c.513G>T (p.Met171Ile) c.1858G>T n.870-87C>A c.2469G>T (p.Met823Ile) c.2112G>T (p.Met704Ile) n.3170G>T | |
2 | g.166277001C>G | CA349076849 | SCN1A-AS1,SCN9A | c.2856G>C (p.Met952Ile) c.2823G>C (p.Met941Ile) c.513G>C (p.Met171Ile) c.1858G>C n.870-87C>G c.2469G>C (p.Met823Ile) c.2112G>C (p.Met704Ile) n.3170G>C | |
2 | g.166277001C>T | CA349076853 | SCN1A-AS1,SCN9A | c.2856G>A (p.Met952Ile) c.2823G>A (p.Met941Ile) c.513G>A (p.Met171Ile) c.1858G>A n.870-87C>T c.2469G>A (p.Met823Ile) c.2112G>A (p.Met704Ile) n.3170G>A | |
2 | g.166277002A= | CA1304964659 | SCN1A-AS1,SCN9A | c.2855T= (p.Met952=) c.2822T= (p.Met941=) c.512T= (p.Met171=) c.1857T= n.870-86A= c.2468T= (p.Met823=) c.2111T= (p.Met704=) n.3169T= | |
2 | g.166277002A>C | CA349076858 | SCN1A-AS1,SCN9A | c.2855T>G (p.Met952Arg) c.2822T>G (p.Met941Arg) c.512T>G (p.Met171Arg) c.1857T>G n.870-86A>C c.2468T>G (p.Met823Arg) c.2111T>G (p.Met704Arg) n.3169T>G | |
2 | g.166277002A>G | CA1944193 | SCN1A-AS1,SCN9A | c.2855T>C (p.Met952Thr) c.2822T>C (p.Met941Thr) c.512T>C (p.Met171Thr) c.1857T>C n.870-86A>G c.2468T>C (p.Met823Thr) c.2111T>C (p.Met704Thr) n.3169T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277002A>T | CA349076865 | SCN1A-AS1,SCN9A | c.2855T>A (p.Met952Lys) c.2822T>A (p.Met941Lys) c.512T>A (p.Met171Lys) c.1857T>A n.870-86A>T c.2468T>A (p.Met823Lys) c.2111T>A (p.Met704Lys) n.3169T>A | |
2 | g.166277003T>A | CA349076880 | SCN1A-AS1,SCN9A | c.2854A>T (p.Met952Leu) c.2821A>T (p.Met941Leu) c.511A>T (p.Met171Leu) c.1856A>T n.870-85T>A c.2467A>T (p.Met823Leu) c.2110A>T (p.Met704Leu) n.3168A>T | |
2 | g.166277003T>C | CA349076874 | SCN1A-AS1,SCN9A | c.2854A>G (p.Met952Val) c.2821A>G (p.Met941Val) c.511A>G (p.Met171Val) c.1856A>G n.870-85T>C c.2467A>G (p.Met823Val) c.2110A>G (p.Met704Val) n.3168A>G | |
2 | g.166277003T>G | CA349076871 | SCN1A-AS1,SCN9A | c.2854A>C (p.Met952Leu) c.2821A>C (p.Met941Leu) c.511A>C (p.Met171Leu) c.1856A>C n.870-85T>G c.2467A>C (p.Met823Leu) c.2110A>C (p.Met704Leu) n.3168A>C | ClinVar dbSNP |
2 | g.166277004G>A | CA59794461 | SCN1A-AS1,SCN9A | c.2853C>T (p.Val951=) c.2820C>T (p.Val940=) c.510C>T (p.Val170=) c.1855C>T n.870-84G>A c.2466C>T (p.Val822=) c.2109C>T (p.Val703=) n.3167C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277004G>C | CA1944194 | SCN1A-AS1,SCN9A | c.2853C>G (p.Val951=) c.2820C>G (p.Val940=) c.510C>G (p.Val170=) c.1855C>G n.870-84G>C c.2466C>G (p.Val822=) c.2109C>G (p.Val703=) n.3167C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277004G= | CA1304964660 | SCN1A-AS1,SCN9A | c.2853C= (p.Val951=) c.2820C= (p.Val940=) c.510C= (p.Val170=) c.1855C= n.870-84G= c.2466C= (p.Val822=) c.2109C= (p.Val703=) n.3167C= | |
2 | g.166277004G>T | CA429977929 | SCN1A-AS1,SCN9A | c.2853C>A (p.Val951=) c.2820C>A (p.Val940=) c.510C>A (p.Val170=) c.1855C>A n.870-84G>T c.2466C>A (p.Val822=) c.2109C>A (p.Val703=) n.3167C>A | |
2 | g.166277005A= | CA1304964661 | SCN1A-AS1,SCN9A | c.2852T= (p.Val951=) c.2819T= (p.Val940=) c.509T= (p.Val170=) c.1854T= n.870-83A= c.2465T= (p.Val822=) c.2108T= (p.Val703=) n.3166T= | |
2 | g.166277005A>C | CA349076891 | SCN1A-AS1,SCN9A | c.2852T>G (p.Val951Gly) c.2819T>G (p.Val940Gly) c.509T>G (p.Val170Gly) c.1854T>G n.870-83A>C c.2465T>G (p.Val822Gly) c.2108T>G (p.Val703Gly) n.3166T>G | |
2 | g.166277005A>G | CA1944195 | SCN1A-AS1,SCN9A | c.2852T>C (p.Val951Ala) c.2819T>C (p.Val940Ala) c.509T>C (p.Val170Ala) c.1854T>C n.870-83A>G c.2465T>C (p.Val822Ala) c.2108T>C (p.Val703Ala) n.3166T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277005A>T | CA349076898 | SCN1A-AS1,SCN9A | c.2852T>A (p.Val951Asp) c.2819T>A (p.Val940Asp) c.509T>A (p.Val170Asp) c.1854T>A n.870-83A>T c.2465T>A (p.Val822Asp) c.2108T>A (p.Val703Asp) n.3166T>A | |
2 | g.166277006C>A | CA349076902 | SCN1A-AS1,SCN9A | c.2851G>T (p.Val951Phe) c.2818G>T (p.Val940Phe) c.508G>T (p.Val170Phe) c.1853G>T n.870-82C>A c.2464G>T (p.Val822Phe) c.2107G>T (p.Val703Phe) n.3165G>T | |
2 | g.166277006C>G | CA349076904 | SCN1A-AS1,SCN9A | c.2851G>C (p.Val951Leu) c.2818G>C (p.Val940Leu) c.508G>C (p.Val170Leu) c.1853G>C n.870-82C>G c.2464G>C (p.Val822Leu) c.2107G>C (p.Val703Leu) n.3165G>C | |
2 | g.166277006C>T | CA349076906 | SCN1A-AS1,SCN9A | c.2851G>A (p.Val951Ile) c.2818G>A (p.Val940Ile) c.508G>A (p.Val170Ile) c.1853G>A n.870-82C>T c.2464G>A (p.Val822Ile) c.2107G>A (p.Val703Ile) n.3165G>A | |
2 | g.166277007C>A | CA349076907 | SCN1A-AS1,SCN9A | c.2850G>T (p.Met950Ile) c.2817G>T (p.Met939Ile) c.507G>T (p.Met169Ile) c.1852G>T n.870-81C>A c.2463G>T (p.Met821Ile) c.2106G>T (p.Met702Ile) n.3164G>T | COSMIC COSMIC |
2 | g.166277007C= | CA1304964662 | SCN1A-AS1,SCN9A | c.2850G= (p.Met950=) c.2817G= (p.Met939=) c.507G= (p.Met169=) c.1852G= n.870-81C= c.2463G= (p.Met821=) c.2106G= (p.Met702=) n.3164G= | |
2 | g.166277007C>G | CA349076908 | SCN1A-AS1,SCN9A | c.2850G>C (p.Met950Ile) c.2817G>C (p.Met939Ile) c.507G>C (p.Met169Ile) c.1852G>C n.870-81C>G c.2463G>C (p.Met821Ile) c.2106G>C (p.Met702Ile) n.3164G>C | dbSNP gnomAD v4 |
2 | g.166277007C>T | CA349076909 | SCN1A-AS1,SCN9A | c.2850G>A (p.Met950Ile) c.2817G>A (p.Met939Ile) c.507G>A (p.Met169Ile) c.1852G>A n.870-81C>T c.2463G>A (p.Met821Ile) c.2106G>A (p.Met702Ile) n.3164G>A | |
2 | g.166277010_166277012del | CA2580614407 | SCN1A-AS1,SCN9A | c.2848_2850del (p.Met950del) c.2815_2817del (p.Met939del) c.505_507del (p.Met169del) c.1850_1852del n.870-78_870-76del c.2461_2463del (p.Met821del) c.2104_2106del (p.Met702del) n.3162_3164del | ClinVar |
2 | g.166277008A= | CA1304964663 | SCN1A-AS1,SCN9A | c.2849T= (p.Met950=) c.2816T= (p.Met939=) c.506T= (p.Met169=) c.1851T= n.870-80A= c.2462T= (p.Met821=) c.2105T= (p.Met702=) n.3163T= | |
2 | g.166277008A>C | CA349076912 | SCN1A-AS1,SCN9A | c.2849T>G (p.Met950Arg) c.2816T>G (p.Met939Arg) c.506T>G (p.Met169Arg) c.1851T>G n.870-80A>C c.2462T>G (p.Met821Arg) c.2105T>G (p.Met702Arg) n.3163T>G | |
2 | g.166277008A>G | CA349076914 | SCN1A-AS1,SCN9A | c.2849T>C (p.Met950Thr) c.2816T>C (p.Met939Thr) c.506T>C (p.Met169Thr) c.1851T>C n.870-80A>G c.2462T>C (p.Met821Thr) c.2105T>C (p.Met702Thr) n.3163T>C | ClinVar dbSNP gnomAD v4 |
2 | g.166277008A>T | CA349076916 | SCN1A-AS1,SCN9A | c.2849T>A (p.Met950Lys) c.2816T>A (p.Met939Lys) c.506T>A (p.Met169Lys) c.1851T>A n.870-80A>T c.2462T>A (p.Met821Lys) c.2105T>A (p.Met702Lys) n.3163T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277009T>A | CA349076919 | SCN1A-AS1,SCN9A | c.2848A>T (p.Met950Leu) c.2815A>T (p.Met939Leu) c.505A>T (p.Met169Leu) c.1850A>T n.870-79T>A c.2461A>T (p.Met821Leu) c.2104A>T (p.Met702Leu) n.3162A>T | |
2 | g.166277009T>C | CA349076921 | SCN1A-AS1,SCN9A | c.2848A>G (p.Met950Val) c.2815A>G (p.Met939Val) c.505A>G (p.Met169Val) c.1850A>G n.870-79T>C c.2461A>G (p.Met821Val) c.2104A>G (p.Met702Val) n.3162A>G | |
2 | g.166277009T>G | CA349076923 | SCN1A-AS1,SCN9A | c.2848A>C (p.Met950Leu) c.2815A>C (p.Met939Leu) c.505A>C (p.Met169Leu) c.1850A>C n.870-79T>G c.2461A>C (p.Met821Leu) c.2104A>C (p.Met702Leu) n.3162A>C | |
2 | g.166277010C>A | CA349076930 | SCN1A-AS1,SCN9A | c.2847G>T (p.Met949Ile) c.2814G>T (p.Met938Ile) c.504G>T (p.Met168Ile) c.1849G>T n.870-78C>A c.2460G>T (p.Met820Ile) c.2103G>T (p.Met701Ile) n.3161G>T | |
2 | g.166277010C= | CA1304964664 | SCN1A-AS1,SCN9A | c.2847G= (p.Met949=) c.2814G= (p.Met938=) c.504G= (p.Met168=) c.1849G= n.870-78C= c.2460G= (p.Met820=) c.2103G= (p.Met701=) n.3161G= | |
2 | g.166277010C>G | CA349076926 | SCN1A-AS1,SCN9A | c.2847G>C (p.Met949Ile) c.2814G>C (p.Met938Ile) c.504G>C (p.Met168Ile) c.1849G>C n.870-78C>G c.2460G>C (p.Met820Ile) c.2103G>C (p.Met701Ile) n.3161G>C | |
2 | g.166277010C>T | CA1944196 | SCN1A-AS1,SCN9A | c.2847G>A (p.Met949Ile) c.2814G>A (p.Met938Ile) c.504G>A (p.Met168Ile) c.1849G>A n.870-78C>T c.2460G>A (p.Met820Ile) c.2103G>A (p.Met701Ile) n.3161G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166277011A>C | CA349076934 | SCN1A-AS1,SCN9A | c.2846T>G (p.Met949Arg) c.2813T>G (p.Met938Arg) c.503T>G (p.Met168Arg) c.1848T>G n.870-77A>C c.2459T>G (p.Met820Arg) c.2102T>G (p.Met701Arg) n.3160T>G | |
2 | g.166277011A>G | CA349076940 | SCN1A-AS1,SCN9A | c.2846T>C (p.Met949Thr) c.2813T>C (p.Met938Thr) c.503T>C (p.Met168Thr) c.1848T>C n.870-77A>G c.2459T>C (p.Met820Thr) c.2102T>C (p.Met701Thr) n.3160T>C | |
2 | g.166277011A>T | CA349076942 | SCN1A-AS1,SCN9A | c.2846T>A (p.Met949Lys) c.2813T>A (p.Met938Lys) c.503T>A (p.Met168Lys) c.1848T>A n.870-77A>T c.2459T>A (p.Met820Lys) c.2102T>A (p.Met701Lys) n.3160T>A | |
2 | g.166277012T>A | CA349076947 | SCN1A-AS1,SCN9A | c.2845A>T (p.Met949Leu) c.2812A>T (p.Met938Leu) c.502A>T (p.Met168Leu) c.1847A>T n.870-76T>A c.2458A>T (p.Met820Leu) c.2101A>T (p.Met701Leu) n.3159A>T | |
2 | g.166277012T>C | CA349076950 | SCN1A-AS1,SCN9A | c.2845A>G (p.Met949Val) c.2812A>G (p.Met938Val) c.502A>G (p.Met168Val) c.1847A>G n.870-76T>C c.2458A>G (p.Met820Val) c.2101A>G (p.Met701Val) n.3159A>G | gnomAD v4 |
2 | g.166277012T>G | CA349076953 | SCN1A-AS1,SCN9A | c.2845A>C (p.Met949Leu) c.2812A>C (p.Met938Leu) c.502A>C (p.Met168Leu) c.1847A>C n.870-76T>G c.2458A>C (p.Met820Leu) c.2101A>C (p.Met701Leu) n.3159A>C | |
2 | g.166277013G>A | CA429977943 | SCN1A-AS1,SCN9A | c.2844C>T (p.Tyr948=) c.2811C>T (p.Tyr937=) c.501C>T (p.Tyr167=) c.1846C>T n.870-75G>A c.2457C>T (p.Tyr819=) c.2100C>T (p.Tyr700=) n.3158C>T | |
2 | g.166277013G>C | CA349076956 | SCN1A-AS1,SCN9A | c.2844C>G (p.Tyr948Ter) c.2811C>G (p.Tyr937Ter) c.501C>G (p.Tyr167Ter) c.1846C>G n.870-75G>C c.2457C>G (p.Tyr819Ter) c.2100C>G (p.Tyr700Ter) n.3158C>G | |
2 | g.166277013G>T | CA349076959 | SCN1A-AS1,SCN9A | c.2844C>A (p.Tyr948Ter) c.2811C>A (p.Tyr937Ter) c.501C>A (p.Tyr167Ter) c.1846C>A n.870-75G>T c.2457C>A (p.Tyr819Ter) c.2100C>A (p.Tyr700Ter) n.3158C>A | |
2 | g.166277014T>A | CA349076965 | SCN1A-AS1,SCN9A | c.2843A>T (p.Tyr948Phe) c.2810A>T (p.Tyr937Phe) c.500A>T (p.Tyr167Phe) c.1845A>T n.870-74T>A c.2456A>T (p.Tyr819Phe) c.2099A>T (p.Tyr700Phe) n.3157A>T | gnomAD v4 |
2 | g.166277014T>C | CA349076967 | SCN1A-AS1,SCN9A | c.2843A>G (p.Tyr948Cys) c.2810A>G (p.Tyr937Cys) c.500A>G (p.Tyr167Cys) c.1845A>G n.870-74T>C c.2456A>G (p.Tyr819Cys) c.2099A>G (p.Tyr700Cys) n.3157A>G | |
2 | g.166277014T>G | CA349076973 | SCN1A-AS1,SCN9A | c.2843A>C (p.Tyr948Ser) c.2810A>C (p.Tyr937Ser) c.500A>C (p.Tyr167Ser) c.1845A>C n.870-74T>G c.2456A>C (p.Tyr819Ser) c.2099A>C (p.Tyr700Ser) n.3157A>C | |
2 | g.166277015A>C | CA349076983 | SCN1A-AS1,SCN9A | c.2842T>G (p.Tyr948Asp) c.2809T>G (p.Tyr937Asp) c.499T>G (p.Tyr167Asp) c.1844T>G n.870-73A>C c.2455T>G (p.Tyr819Asp) c.2098T>G (p.Tyr700Asp) n.3156T>G | |
2 | g.166277015A>G | CA349076980 | SCN1A-AS1,SCN9A | c.2842T>C (p.Tyr948His) c.2809T>C (p.Tyr937His) c.499T>C (p.Tyr167His) c.1844T>C n.870-73A>G c.2455T>C (p.Tyr819His) c.2098T>C (p.Tyr700His) n.3156T>C | |
2 | g.166277015A>T | CA349076978 | SCN1A-AS1,SCN9A | c.2842T>A (p.Tyr948Asn) c.2809T>A (p.Tyr937Asn) c.499T>A (p.Tyr167Asn) c.1844T>A n.870-73A>T c.2455T>A (p.Tyr819Asn) c.2098T>A (p.Tyr700Asn) n.3156T>A | |
2 | g.166277016A>C | CA429977950 | SCN1A-AS1,SCN9A | c.2841T>G (p.Val947=) c.2808T>G (p.Val936=) c.498T>G (p.Val166=) c.1843T>G n.870-72A>C c.2454T>G (p.Val818=) c.2097T>G (p.Val699=) n.3155T>G | |
2 | g.166277016A>G | CA429977951 | SCN1A-AS1,SCN9A | c.2841T>C (p.Val947=) c.2808T>C (p.Val936=) c.498T>C (p.Val166=) c.1843T>C n.870-72A>G c.2454T>C (p.Val818=) c.2097T>C (p.Val699=) n.3155T>C | |
2 | g.166277016A>T | CA429977952 | SCN1A-AS1,SCN9A | c.2841T>A (p.Val947=) c.2808T>A (p.Val936=) c.498T>A (p.Val166=) c.1843T>A n.870-72A>T c.2454T>A (p.Val818=) c.2097T>A (p.Val699=) n.3155T>A | |
2 | g.166277017A= | CA1304964665 | SCN1A-AS1,SCN9A | c.2840T= (p.Val947=) c.2807T= (p.Val936=) c.497T= (p.Val166=) c.1842T= n.870-71A= c.2453T= (p.Val818=) c.2096T= (p.Val699=) n.3154T= | |
2 | g.166277017A>C | CA349076985 | SCN1A-AS1,SCN9A | c.2840T>G (p.Val947Gly) c.2807T>G (p.Val936Gly) c.497T>G (p.Val166Gly) c.1842T>G n.870-71A>C c.2453T>G (p.Val818Gly) c.2096T>G (p.Val699Gly) n.3154T>G | |
2 | g.166277017A>G | CA349076986 | SCN1A-AS1,SCN9A | c.2840T>C (p.Val947Ala) c.2807T>C (p.Val936Ala) c.497T>C (p.Val166Ala) c.1842T>C n.870-71A>G c.2453T>C (p.Val818Ala) c.2096T>C (p.Val699Ala) n.3154T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277017A>T | CA349076992 | SCN1A-AS1,SCN9A | c.2840T>A (p.Val947Asp) c.2807T>A (p.Val936Asp) c.497T>A (p.Val166Asp) c.1842T>A n.870-71A>T c.2453T>A (p.Val818Asp) c.2096T>A (p.Val699Asp) n.3154T>A | |
2 | g.166277018C>A | CA349076994 | SCN1A-AS1,SCN9A | c.2839G>T (p.Val947Phe) c.2806G>T (p.Val936Phe) c.496G>T (p.Val166Phe) c.1841G>T n.870-70C>A c.2452G>T (p.Val818Phe) c.2095G>T (p.Val699Phe) n.3153G>T | |
2 | g.166277018C>G | CA349076996 | SCN1A-AS1,SCN9A | c.2839G>C (p.Val947Leu) c.2806G>C (p.Val936Leu) c.496G>C (p.Val166Leu) c.1841G>C n.870-70C>G c.2452G>C (p.Val818Leu) c.2095G>C (p.Val699Leu) n.3153G>C | |
2 | g.166277018C>T | CA349076999 | SCN1A-AS1,SCN9A | c.2839G>A (p.Val947Ile) c.2806G>A (p.Val936Ile) c.496G>A (p.Val166Ile) c.1841G>A n.870-70C>T c.2452G>A (p.Val818Ile) c.2095G>A (p.Val699Ile) n.3153G>A | |
2 | g.166277019A>C | CA349077003 | SCN1A-AS1,SCN9A | c.2838T>G (p.Ile946Met) c.2805T>G (p.Ile935Met) c.495T>G (p.Ile165Met) c.1840T>G n.870-69A>C c.2451T>G (p.Ile817Met) c.2094T>G (p.Ile698Met) n.3152T>G | |
2 | g.166277019A>G | CA429977957 | SCN1A-AS1,SCN9A | c.2838T>C (p.Ile946=) c.2805T>C (p.Ile935=) c.495T>C (p.Ile165=) c.1840T>C n.870-69A>G c.2451T>C (p.Ile817=) c.2094T>C (p.Ile698=) n.3152T>C | |
2 | g.166277019A>T | CA429977958 | SCN1A-AS1,SCN9A | c.2838T>A (p.Ile946=) c.2805T>A (p.Ile935=) c.495T>A (p.Ile165=) c.1840T>A n.870-69A>T c.2451T>A (p.Ile817=) c.2094T>A (p.Ile698=) n.3152T>A | |
2 | g.166277020A= | CA1304964666 | SCN1A-AS1,SCN9A | c.2837T= (p.Ile946=) c.2804T= (p.Ile935=) c.494T= (p.Ile165=) c.1839T= n.870-68A= c.2450T= (p.Ile817=) c.2093T= (p.Ile698=) n.3151T= | |
2 | g.166277020A>C | CA349077008 | SCN1A-AS1,SCN9A | c.2837T>G (p.Ile946Ser) c.2804T>G (p.Ile935Ser) c.494T>G (p.Ile165Ser) c.1839T>G n.870-68A>C c.2450T>G (p.Ile817Ser) c.2093T>G (p.Ile698Ser) n.3151T>G | |
2 | g.166277020A>G | CA349077011 | SCN1A-AS1,SCN9A | c.2837T>C (p.Ile946Thr) c.2804T>C (p.Ile935Thr) c.494T>C (p.Ile165Thr) c.1839T>C n.870-68A>G c.2450T>C (p.Ile817Thr) c.2093T>C (p.Ile698Thr) n.3151T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166277020A>T | CA349077013 | SCN1A-AS1,SCN9A | c.2837T>A (p.Ile946Asn) c.2804T>A (p.Ile935Asn) c.494T>A (p.Ile165Asn) c.1839T>A n.870-68A>T c.2450T>A (p.Ile817Asn) c.2093T>A (p.Ile698Asn) n.3151T>A | |
2 | g.166277021T>A | CA349077014 | SCN1A-AS1,SCN9A | c.2836A>T (p.Ile946Phe) c.2803A>T (p.Ile935Phe) c.493A>T (p.Ile165Phe) c.1838A>T n.870-67T>A c.2449A>T (p.Ile817Phe) c.2092A>T (p.Ile698Phe) n.3150A>T | |
2 | g.166277021T>C | CA1944197 | SCN1A-AS1,SCN9A | c.2836A>G (p.Ile946Val) c.2803A>G (p.Ile935Val) c.493A>G (p.Ile165Val) c.1838A>G n.870-67T>C c.2449A>G (p.Ile817Val) c.2092A>G (p.Ile698Val) n.3150A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277021T>G | CA349077016 | SCN1A-AS1,SCN9A | c.2836A>C (p.Ile946Leu) c.2803A>C (p.Ile935Leu) c.493A>C (p.Ile165Leu) c.1838A>C n.870-67T>G c.2449A>C (p.Ile817Leu) c.2092A>C (p.Ile698Leu) n.3150A>C | |
2 | g.166277021T= | CA1304964667 | SCN1A-AS1,SCN9A | c.2836A= (p.Ile946=) c.2803A= (p.Ile935=) c.493A= (p.Ile165=) c.1838A= n.870-67T= c.2449A= (p.Ile817=) c.2092A= (p.Ile698=) n.3150A= | |
2 | g.166277022A>C | CA429977966 | SCN1A-AS1,SCN9A | c.2835T>G (p.Leu945=) c.2802T>G (p.Leu934=) c.492T>G (p.Leu164=) c.1837T>G n.870-66A>C c.2448T>G (p.Leu816=) c.2091T>G (p.Leu697=) n.3149T>G | |
2 | g.166277022A>G | CA429977968 | SCN1A-AS1,SCN9A | c.2835T>C (p.Leu945=) c.2802T>C (p.Leu934=) c.492T>C (p.Leu164=) c.1837T>C n.870-66A>G c.2448T>C (p.Leu816=) c.2091T>C (p.Leu697=) n.3149T>C | |
2 | g.166277022A>T | CA429977969 | SCN1A-AS1,SCN9A | c.2835T>A (p.Leu945=) c.2802T>A (p.Leu934=) c.492T>A (p.Leu164=) c.1837T>A n.870-66A>T c.2448T>A (p.Leu816=) c.2091T>A (p.Leu697=) n.3149T>A | |
2 | g.166277023A= | CA1304964668 | SCN1A-AS1,SCN9A | c.2834T= (p.Leu945=) c.2801T= (p.Leu934=) c.491T= (p.Leu164=) c.1836T= n.870-65A= c.2447T= (p.Leu816=) c.2090T= (p.Leu697=) n.3148T= | |
2 | g.166277023A>C | CA349077022 | SCN1A-AS1,SCN9A | c.2834T>G (p.Leu945Arg) c.2801T>G (p.Leu934Arg) c.491T>G (p.Leu164Arg) c.1836T>G n.870-65A>C c.2447T>G (p.Leu816Arg) c.2090T>G (p.Leu697Arg) n.3148T>G | |
2 | g.166277023A>G | CA1944198 | SCN1A-AS1,SCN9A | c.2834T>C (p.Leu945Pro) c.2801T>C (p.Leu934Pro) c.491T>C (p.Leu164Pro) c.1836T>C n.870-65A>G c.2447T>C (p.Leu816Pro) c.2090T>C (p.Leu697Pro) n.3148T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277023A>T | CA349077025 | SCN1A-AS1,SCN9A | c.2834T>A (p.Leu945His) c.2801T>A (p.Leu934His) c.491T>A (p.Leu164His) c.1836T>A n.870-65A>T c.2447T>A (p.Leu816His) c.2090T>A (p.Leu697His) n.3148T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277024G>A | CA349077034 | SCN1A-AS1,SCN9A | c.2833C>T (p.Leu945Phe) c.2800C>T (p.Leu934Phe) c.490C>T (p.Leu164Phe) c.1835C>T n.870-64G>A c.2446C>T (p.Leu816Phe) c.2089C>T (p.Leu697Phe) n.3147C>T | |
2 | g.166277024G>C | CA349077037 | SCN1A-AS1,SCN9A | c.2833C>G (p.Leu945Val) c.2800C>G (p.Leu934Val) c.490C>G (p.Leu164Val) c.1835C>G n.870-64G>C c.2446C>G (p.Leu816Val) c.2089C>G (p.Leu697Val) n.3147C>G | |
2 | g.166277024G>T | CA349077041 | SCN1A-AS1,SCN9A | c.2833C>A (p.Leu945Ile) c.2800C>A (p.Leu934Ile) c.490C>A (p.Leu164Ile) c.1835C>A n.870-64G>T c.2446C>A (p.Leu816Ile) c.2089C>A (p.Leu697Ile) n.3147C>A | |
2 | g.166277025G>A | CA429977972 | SCN1A-AS1,SCN9A | c.2832C>T (p.Cys944=) c.2799C>T (p.Cys933=) c.489C>T (p.Cys163=) c.1834C>T n.870-63G>A c.2445C>T (p.Cys815=) c.2088C>T (p.Cys696=) n.3146C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277025G>C | CA349077047 | SCN1A-AS1,SCN9A | c.2832C>G (p.Cys944Trp) c.2799C>G (p.Cys933Trp) c.489C>G (p.Cys163Trp) c.1834C>G n.870-63G>C c.2445C>G (p.Cys815Trp) c.2088C>G (p.Cys696Trp) n.3146C>G | |
2 | g.166277025G= | CA1304964669 | SCN1A-AS1,SCN9A | c.2832C= (p.Cys944=) c.2799C= (p.Cys933=) c.489C= (p.Cys163=) c.1834C= n.870-63G= c.2445C= (p.Cys815=) c.2088C= (p.Cys696=) n.3146C= | |
2 | g.166277025G>T | CA349077050 | SCN1A-AS1,SCN9A | c.2832C>A (p.Cys944Ter) c.2799C>A (p.Cys933Ter) c.489C>A (p.Cys163Ter) c.1834C>A n.870-63G>T c.2445C>A (p.Cys815Ter) c.2088C>A (p.Cys696Ter) n.3146C>A | dbSNP |
2 | g.166277026C>A | CA349077055 | SCN1A-AS1,SCN9A | c.2831G>T (p.Cys944Phe) c.2798G>T (p.Cys933Phe) c.488G>T (p.Cys163Phe) c.1833G>T n.870-62C>A c.2444G>T (p.Cys815Phe) c.2087G>T (p.Cys696Phe) n.3145G>T | |
2 | g.166277026C>G | CA349077058 | SCN1A-AS1,SCN9A | c.2831G>C (p.Cys944Ser) c.2798G>C (p.Cys933Ser) c.488G>C (p.Cys163Ser) c.1833G>C n.870-62C>G c.2444G>C (p.Cys815Ser) c.2087G>C (p.Cys696Ser) n.3145G>C | |
2 | g.166277026C>T | CA349077061 | SCN1A-AS1,SCN9A | c.2831G>A (p.Cys944Tyr) c.2798G>A (p.Cys933Tyr) c.488G>A (p.Cys163Tyr) c.1833G>A n.870-62C>T c.2444G>A (p.Cys815Tyr) c.2087G>A (p.Cys696Tyr) n.3145G>A | |
2 | g.166277027A>C | CA349077065 | SCN1A-AS1,SCN9A | c.2830T>G (p.Cys944Gly) c.2797T>G (p.Cys933Gly) c.487T>G (p.Cys163Gly) c.1832T>G n.870-61A>C c.2443T>G (p.Cys815Gly) c.2086T>G (p.Cys696Gly) n.3144T>G | |
2 | g.166277027A>G | CA349077068 | SCN1A-AS1,SCN9A | c.2830T>C (p.Cys944Arg) c.2797T>C (p.Cys933Arg) c.487T>C (p.Cys163Arg) c.1832T>C n.870-61A>G c.2443T>C (p.Cys815Arg) c.2086T>C (p.Cys696Arg) n.3144T>C | gnomAD v4 |
2 | g.166277027A>T | CA349077072 | SCN1A-AS1,SCN9A | c.2830T>A (p.Cys944Ser) c.2797T>A (p.Cys933Ser) c.487T>A (p.Cys163Ser) c.1832T>A n.870-61A>T c.2443T>A (p.Cys815Ser) c.2086T>A (p.Cys696Ser) n.3144T>A | |
2 | g.166277028C>A | CA349077088 | SCN1A-AS1,SCN9A | c.2829G>T (p.Met943Ile) c.2796G>T (p.Met932Ile) c.486G>T (p.Met162Ile) c.1831G>T n.870-60C>A c.2442G>T (p.Met814Ile) c.2085G>T (p.Met695Ile) n.3143G>T | |
2 | g.166277028C= | CA1304964670 | SCN1A-AS1,SCN9A | c.2829G= (p.Met943=) c.2796G= (p.Met932=) c.486G= (p.Met162=) c.1831G= n.870-60C= c.2442G= (p.Met814=) c.2085G= (p.Met695=) n.3143G= | |
2 | g.166277028C>G | CA349077090 | SCN1A-AS1,SCN9A | c.2829G>C (p.Met943Ile) c.2796G>C (p.Met932Ile) c.486G>C (p.Met162Ile) c.1831G>C n.870-60C>G c.2442G>C (p.Met814Ile) c.2085G>C (p.Met695Ile) n.3143G>C | gnomAD v4 |
2 | g.166277028C>T | CA59794487 | SCN1A-AS1,SCN9A | c.2829G>A (p.Met943Ile) c.2796G>A (p.Met932Ile) c.486G>A (p.Met162Ile) c.1831G>A n.870-60C>T c.2442G>A (p.Met814Ile) c.2085G>A (p.Met695Ile) n.3143G>A | ClinVar dbSNP |
2 | g.166277029A= | CA1304964671 | SCN1A-AS1,SCN9A | c.2828T= (p.Met943=) c.2795T= (p.Met932=) c.485T= (p.Met162=) c.1830T= n.870-59A= c.2441T= (p.Met814=) c.2084T= (p.Met695=) n.3142T= | |
2 | g.166277029A>C | CA349077099 | SCN1A-AS1,SCN9A | c.2828T>G (p.Met943Arg) c.2795T>G (p.Met932Arg) c.485T>G (p.Met162Arg) c.1830T>G n.870-59A>C c.2441T>G (p.Met814Arg) c.2084T>G (p.Met695Arg) n.3142T>G | |
2 | g.166277029A>G | CA349077091 | SCN1A-AS1,SCN9A | c.2828T>C (p.Met943Thr) c.2795T>C (p.Met932Thr) c.485T>C (p.Met162Thr) c.1830T>C n.870-59A>G c.2441T>C (p.Met814Thr) c.2084T>C (p.Met695Thr) n.3142T>C | ClinVar dbSNP gnomAD v4 |
2 | g.166277029A>T | CA349077096 | SCN1A-AS1,SCN9A | c.2828T>A (p.Met943Lys) c.2795T>A (p.Met932Lys) c.485T>A (p.Met162Lys) c.1830T>A n.870-59A>T c.2441T>A (p.Met814Lys) c.2084T>A (p.Met695Lys) n.3142T>A | |
2 | g.166277030T>A | CA349077105 | SCN1A-AS1,SCN9A | c.2827A>T (p.Met943Leu) c.2794A>T (p.Met932Leu) c.484A>T (p.Met162Leu) c.1829A>T n.870-58T>A c.2440A>T (p.Met814Leu) c.2083A>T (p.Met695Leu) n.3141A>T | |
2 | g.166277030T>C | CA349077108 | SCN1A-AS1,SCN9A | c.2827A>G (p.Met943Val) c.2794A>G (p.Met932Val) c.484A>G (p.Met162Val) c.1829A>G n.870-58T>C c.2440A>G (p.Met814Val) c.2083A>G (p.Met695Val) n.3141A>G | gnomAD v4 |
2 | g.166277030T>G | CA147603 | SCN1A-AS1,SCN9A | c.2827A>C (p.Met943Leu) c.2794A>C (p.Met932Leu) c.484A>C (p.Met162Leu) c.1829A>C n.870-58T>G c.2440A>C (p.Met814Leu) c.2083A>C (p.Met695Leu) n.3141A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277030T= | CA1304964672 | SCN1A-AS1,SCN9A | c.2827A= (p.Met943=) c.2794A= (p.Met932=) c.484A= (p.Met162=) c.1829A= n.870-58T= c.2440A= (p.Met814=) c.2083A= (p.Met695=) n.3141A= | |
2 | g.166277031A>C | CA429977986 | SCN1A-AS1,SCN9A | c.2826T>G (p.Ala942=) c.2793T>G (p.Ala931=) c.483T>G (p.Ala161=) c.1828T>G n.870-57A>C c.2439T>G (p.Ala813=) c.2082T>G (p.Ala694=) n.3140T>G | |
2 | g.166277031A>G | CA429977987 | SCN1A-AS1,SCN9A | c.2826T>C (p.Ala942=) c.2793T>C (p.Ala931=) c.483T>C (p.Ala161=) c.1828T>C n.870-57A>G c.2439T>C (p.Ala813=) c.2082T>C (p.Ala694=) n.3140T>C | |
2 | g.166277031A>T | CA429977988 | SCN1A-AS1,SCN9A | c.2826T>A (p.Ala942=) c.2793T>A (p.Ala931=) c.483T>A (p.Ala161=) c.1828T>A n.870-57A>T c.2439T>A (p.Ala813=) c.2082T>A (p.Ala694=) n.3140T>A | |
2 | g.166277032G>A | CA349077115 | SCN1A-AS1,SCN9A | c.2825C>T (p.Ala942Val) c.2792C>T (p.Ala931Val) c.482C>T (p.Ala161Val) c.1827C>T n.870-56G>A c.2438C>T (p.Ala813Val) c.2081C>T (p.Ala694Val) n.3139C>T | |
2 | g.166277032G>C | CA349077117 | SCN1A-AS1,SCN9A | c.2825C>G (p.Ala942Gly) c.2792C>G (p.Ala931Gly) c.482C>G (p.Ala161Gly) c.1827C>G n.870-56G>C c.2438C>G (p.Ala813Gly) c.2081C>G (p.Ala694Gly) n.3139C>G | |
2 | g.166277032G>T | CA349077120 | SCN1A-AS1,SCN9A | c.2825C>A (p.Ala942Asp) c.2792C>A (p.Ala931Asp) c.482C>A (p.Ala161Asp) c.1827C>A n.870-56G>T c.2438C>A (p.Ala813Asp) c.2081C>A (p.Ala694Asp) n.3139C>A | |
2 | g.166277033C>A | CA349077123 | SCN1A-AS1,SCN9A | c.2824G>T (p.Ala942Ser) c.2791G>T (p.Ala931Ser) c.481G>T (p.Ala161Ser) c.1826G>T n.870-55C>A c.2437G>T (p.Ala813Ser) c.2080G>T (p.Ala694Ser) n.3138G>T | gnomAD v4 |
2 | g.166277033C= | CA1304964692 | SCN1A-AS1,SCN9A | c.2824G= (p.Ala942=) c.2791G= (p.Ala931=) c.481G= (p.Ala161=) c.1826G= n.870-55C= c.2437G= (p.Ala813=) c.2080G= (p.Ala694=) n.3138G= | |
2 | g.166277033C>G | CA349077126 | SCN1A-AS1,SCN9A | c.2824G>C (p.Ala942Pro) c.2791G>C (p.Ala931Pro) c.481G>C (p.Ala161Pro) c.1826G>C n.870-55C>G c.2437G>C (p.Ala813Pro) c.2080G>C (p.Ala694Pro) n.3138G>C | |
2 | g.166277033C>T | CA1944199 | SCN1A-AS1,SCN9A | c.2824G>A (p.Ala942Thr) c.2791G>A (p.Ala931Thr) c.481G>A (p.Ala161Thr) c.1826G>A n.870-55C>T c.2437G>A (p.Ala813Thr) c.2080G>A (p.Ala694Thr) n.3138G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277034T>A | CA349077134 | SCN1A-AS1,SCN9A | c.2823A>T (p.Gln941His) c.2790A>T (p.Gln930His) c.480A>T (p.Gln160His) c.1825A>T n.870-54T>A c.2436A>T (p.Gln812His) c.2079A>T (p.Gln693His) n.3137A>T | ClinVar dbSNP gnomAD v4 |
2 | g.166277034T>C | CA429977992 | SCN1A-AS1,SCN9A | c.2823A>G (p.Gln941=) c.2790A>G (p.Gln930=) c.480A>G (p.Gln160=) c.1825A>G n.870-54T>C c.2436A>G (p.Gln812=) c.2079A>G (p.Gln693=) n.3137A>G | |
2 | g.166277034T>G | CA349077139 | SCN1A-AS1,SCN9A | c.2823A>C (p.Gln941His) c.2790A>C (p.Gln930His) c.480A>C (p.Gln160His) c.1825A>C n.870-54T>G c.2436A>C (p.Gln812His) c.2079A>C (p.Gln693His) n.3137A>C | |
2 | g.166277035T>A | CA349077149 | SCN1A-AS1,SCN9A | c.2822A>T (p.Gln941Leu) c.2789A>T (p.Gln930Leu) c.479A>T (p.Gln160Leu) c.1824A>T n.870-53T>A c.2435A>T (p.Gln812Leu) c.2078A>T (p.Gln693Leu) n.3136A>T | COSMIC COSMIC |
2 | g.166277035T>C | CA349077144 | SCN1A-AS1,SCN9A | c.2822A>G (p.Gln941Arg) c.2789A>G (p.Gln930Arg) c.479A>G (p.Gln160Arg) c.1824A>G n.870-53T>C c.2435A>G (p.Gln812Arg) c.2078A>G (p.Gln693Arg) n.3136A>G | |
2 | g.166277035T>G | CA349077146 | SCN1A-AS1,SCN9A | c.2822A>C (p.Gln941Pro) c.2789A>C (p.Gln930Pro) c.479A>C (p.Gln160Pro) c.1824A>C n.870-53T>G c.2435A>C (p.Gln812Pro) c.2078A>C (p.Gln693Pro) n.3136A>C | |
2 | g.166277036G>A | CA349077155 | SCN1A-AS1,SCN9A | c.2821C>T (p.Gln941Ter) c.2788C>T (p.Gln930Ter) c.478C>T (p.Gln160Ter) c.1823C>T n.870-52G>A c.2434C>T (p.Gln812Ter) c.2077C>T (p.Gln693Ter) n.3135C>T | dbSNP |
2 | g.166277036G>C | CA349077157 | SCN1A-AS1,SCN9A | c.2821C>G (p.Gln941Glu) c.2788C>G (p.Gln930Glu) c.478C>G (p.Gln160Glu) c.1823C>G n.870-52G>C c.2434C>G (p.Gln812Glu) c.2077C>G (p.Gln693Glu) n.3135C>G | |
2 | g.166277036G= | CA1304964715 | SCN1A-AS1,SCN9A | c.2821C= (p.Gln941=) c.2788C= (p.Gln930=) c.478C= (p.Gln160=) c.1823C= n.870-52G= c.2434C= (p.Gln812=) c.2077C= (p.Gln693=) n.3135C= | |
2 | g.166277036G>T | CA349077161 | SCN1A-AS1,SCN9A | c.2821C>A (p.Gln941Lys) c.2788C>A (p.Gln930Lys) c.478C>A (p.Gln160Lys) c.1823C>A n.870-52G>T c.2434C>A (p.Gln812Lys) c.2077C>A (p.Gln693Lys) n.3135C>A | |
2 | g.166277037A>C | CA429978000 | SCN1A-AS1,SCN9A | c.2820T>G (p.Gly940=) c.2787T>G (p.Gly929=) c.477T>G (p.Gly159=) c.1822T>G n.870-51A>C c.2433T>G (p.Gly811=) c.2076T>G (p.Gly692=) n.3134T>G | |
2 | g.166277037A>G | CA429977995 | SCN1A-AS1,SCN9A | c.2820T>C (p.Gly940=) c.2787T>C (p.Gly929=) c.477T>C (p.Gly159=) c.1822T>C n.870-51A>G c.2433T>C (p.Gly811=) c.2076T>C (p.Gly692=) n.3134T>C | |
2 | g.166277037A>T | CA429977997 | SCN1A-AS1,SCN9A | c.2820T>A (p.Gly940=) c.2787T>A (p.Gly929=) c.477T>A (p.Gly159=) c.1822T>A n.870-51A>T c.2433T>A (p.Gly811=) c.2076T>A (p.Gly692=) n.3134T>A | |
2 | g.166277038C>A | CA349077166 | SCN1A-AS1,SCN9A | c.2819G>T (p.Gly940Val) c.2786G>T (p.Gly929Val) c.476G>T (p.Gly159Val) c.1821G>T n.870-50C>A c.2432G>T (p.Gly811Val) c.2075G>T (p.Gly692Val) n.3133G>T | |
2 | g.166277038C>G | CA349077168 | SCN1A-AS1,SCN9A | c.2819G>C (p.Gly940Ala) c.2786G>C (p.Gly929Ala) c.476G>C (p.Gly159Ala) c.1821G>C n.870-50C>G c.2432G>C (p.Gly811Ala) c.2075G>C (p.Gly692Ala) n.3133G>C | |
2 | g.166277038C>T | CA349077170 | SCN1A-AS1,SCN9A | c.2819G>A (p.Gly940Asp) c.2786G>A (p.Gly929Asp) c.476G>A (p.Gly159Asp) c.1821G>A n.870-50C>T c.2432G>A (p.Gly811Asp) c.2075G>A (p.Gly692Asp) n.3133G>A | |
2 | g.166277039C>A | CA349077173 | SCN1A-AS1,SCN9A | c.2818G>T (p.Gly940Cys) c.2785G>T (p.Gly929Cys) c.475G>T (p.Gly159Cys) c.1820G>T n.870-49C>A c.2431G>T (p.Gly811Cys) c.2074G>T (p.Gly692Cys) n.3132G>T | |
2 | g.166277039C= | CA1304964719 | SCN1A-AS1,SCN9A | c.2818G= (p.Gly940=) c.2785G= (p.Gly929=) c.475G= (p.Gly159=) c.1820G= n.870-49C= c.2431G= (p.Gly811=) c.2074G= (p.Gly692=) n.3132G= | |
2 | g.166277039C>G | CA349077176 | SCN1A-AS1,SCN9A | c.2818G>C (p.Gly940Arg) c.2785G>C (p.Gly929Arg) c.475G>C (p.Gly159Arg) c.1820G>C n.870-49C>G c.2431G>C (p.Gly811Arg) c.2074G>C (p.Gly692Arg) n.3132G>C | ClinVar dbSNP gnomAD v4 |
2 | g.166277039C>T | CA349077178 | SCN1A-AS1,SCN9A | c.2818G>A (p.Gly940Ser) c.2785G>A (p.Gly929Ser) c.475G>A (p.Gly159Ser) c.1820G>A n.870-49C>T c.2431G>A (p.Gly811Ser) c.2074G>A (p.Gly692Ser) n.3132G>A | |
2 | g.166277040A>C | CA429978003 | SCN1A-AS1,SCN9A | c.2817T>G (p.Ala939=) c.2784T>G (p.Ala928=) c.474T>G (p.Ala158=) c.1819T>G n.870-48A>C c.2430T>G (p.Ala810=) c.2073T>G (p.Ala691=) n.3131T>G | |
2 | g.166277040A>G | CA429978007 | SCN1A-AS1,SCN9A | c.2817T>C (p.Ala939=) c.2784T>C (p.Ala928=) c.474T>C (p.Ala158=) c.1819T>C n.870-48A>G c.2430T>C (p.Ala810=) c.2073T>C (p.Ala691=) n.3131T>C | |
2 | g.166277040A>T | CA429978004 | SCN1A-AS1,SCN9A | c.2817T>A (p.Ala939=) c.2784T>A (p.Ala928=) c.474T>A (p.Ala158=) c.1819T>A n.870-48A>T c.2430T>A (p.Ala810=) c.2073T>A (p.Ala691=) n.3131T>A | |
2 | g.166277041G>A | CA349077184 | SCN1A-AS1,SCN9A | c.2816C>T (p.Ala939Val) c.2783C>T (p.Ala928Val) c.473C>T (p.Ala158Val) c.1818C>T n.870-47G>A c.2429C>T (p.Ala810Val) c.2072C>T (p.Ala691Val) n.3130C>T | ClinVar dbSNP |
2 | g.166277041G>C | CA349077187 | SCN1A-AS1,SCN9A | c.2816C>G (p.Ala939Gly) c.2783C>G (p.Ala928Gly) c.473C>G (p.Ala158Gly) c.1818C>G n.870-47G>C c.2429C>G (p.Ala810Gly) c.2072C>G (p.Ala691Gly) n.3130C>G | |
2 | g.166277041G= | CA1304964726 | SCN1A-AS1,SCN9A | c.2816C= (p.Ala939=) c.2783C= (p.Ala928=) c.473C= (p.Ala158=) c.1818C= n.870-47G= c.2429C= (p.Ala810=) c.2072C= (p.Ala691=) n.3130C= | |
2 | g.166277041G>T | CA349077188 | SCN1A-AS1,SCN9A | c.2816C>A (p.Ala939Asp) c.2783C>A (p.Ala928Asp) c.473C>A (p.Ala158Asp) c.1818C>A n.870-47G>T c.2429C>A (p.Ala810Asp) c.2072C>A (p.Ala691Asp) n.3130C>A | |
2 | g.166277042C>A | CA349077200 | SCN1A-AS1,SCN9A | c.2815G>T (p.Ala939Ser) c.2782G>T (p.Ala928Ser) c.472G>T (p.Ala158Ser) c.1817G>T n.870-46C>A c.2428G>T (p.Ala810Ser) c.2071G>T (p.Ala691Ser) n.3129G>T | ClinVar dbSNP |
2 | g.166277042C= | CA1304964737 | SCN1A-AS1,SCN9A | c.2815G= (p.Ala939=) c.2782G= (p.Ala928=) c.472G= (p.Ala158=) c.1817G= n.870-46C= c.2428G= (p.Ala810=) c.2071G= (p.Ala691=) n.3129G= | |
2 | g.166277042C>G | CA349077197 | SCN1A-AS1,SCN9A | c.2815G>C (p.Ala939Pro) c.2782G>C (p.Ala928Pro) c.472G>C (p.Ala158Pro) c.1817G>C n.870-46C>G c.2428G>C (p.Ala810Pro) c.2071G>C (p.Ala691Pro) n.3129G>C | |
2 | g.166277042C>T | CA16617322 | SCN1A-AS1,SCN9A | c.2815G>A (p.Ala939Thr) c.2782G>A (p.Ala928Thr) c.472G>A (p.Ala158Thr) c.1817G>A n.870-46C>T c.2428G>A (p.Ala810Thr) c.2071G>A (p.Ala691Thr) n.3129G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277043G>A | CA59794494 | SCN1A-AS1,SCN9A | c.2814C>T (p.Val938=) c.2781C>T (p.Val927=) c.471C>T (p.Val157=) c.1816C>T n.870-45G>A c.2427C>T (p.Val809=) c.2070C>T (p.Val690=) n.3128C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277043G>C | CA429978016 | SCN1A-AS1,SCN9A | c.2814C>G (p.Val938=) c.2781C>G (p.Val927=) c.471C>G (p.Val157=) c.1816C>G n.870-45G>C c.2427C>G (p.Val809=) c.2070C>G (p.Val690=) n.3128C>G | |
2 | g.166277043G= | CA1304964739 | SCN1A-AS1,SCN9A | c.2814C= (p.Val938=) c.2781C= (p.Val927=) c.471C= (p.Val157=) c.1816C= n.870-45G= c.2427C= (p.Val809=) c.2070C= (p.Val690=) n.3128C= | |
2 | g.166277043G>T | CA429978018 | SCN1A-AS1,SCN9A | c.2814C>A (p.Val938=) c.2781C>A (p.Val927=) c.471C>A (p.Val157=) c.1816C>A n.870-45G>T c.2427C>A (p.Val809=) c.2070C>A (p.Val690=) n.3128C>A | |
2 | g.166277044A>C | CA349077205 | SCN1A-AS1,SCN9A | c.2813T>G (p.Val938Gly) c.2780T>G (p.Val927Gly) c.470T>G (p.Val157Gly) c.1815T>G n.870-44A>C c.2426T>G (p.Val809Gly) c.2069T>G (p.Val690Gly) n.3127T>G | |
2 | g.166277044A>G | CA349077207 | SCN1A-AS1,SCN9A | c.2813T>C (p.Val938Ala) c.2780T>C (p.Val927Ala) c.470T>C (p.Val157Ala) c.1815T>C n.870-44A>G c.2426T>C (p.Val809Ala) c.2069T>C (p.Val690Ala) n.3127T>C | |
2 | g.166277044A>T | CA349077211 | SCN1A-AS1,SCN9A | c.2813T>A (p.Val938Asp) c.2780T>A (p.Val927Asp) c.470T>A (p.Val157Asp) c.1815T>A n.870-44A>T c.2426T>A (p.Val809Asp) c.2069T>A (p.Val690Asp) n.3127T>A | |
2 | g.166277045C>A | CA349077217 | SCN1A-AS1,SCN9A | c.2812G>T (p.Val938Phe) c.2779G>T (p.Val927Phe) c.469G>T (p.Val157Phe) c.1814G>T n.870-43C>A c.2425G>T (p.Val809Phe) c.2068G>T (p.Val690Phe) n.3126G>T | |
2 | g.166277045C>G | CA349077220 | SCN1A-AS1,SCN9A | c.2812G>C (p.Val938Leu) c.2779G>C (p.Val927Leu) c.469G>C (p.Val157Leu) c.1814G>C n.870-43C>G c.2425G>C (p.Val809Leu) c.2068G>C (p.Val690Leu) n.3126G>C | |
2 | g.166277045C>T | CA349077223 | SCN1A-AS1,SCN9A | c.2812G>A (p.Val938Ile) c.2779G>A (p.Val927Ile) c.469G>A (p.Val157Ile) c.1814G>A n.870-43C>T c.2425G>A (p.Val809Ile) c.2068G>A (p.Val690Ile) n.3126G>A | |
2 | g.166277046C>A | CA349077230 | SCN1A-AS1,SCN9A | c.2811G>T (p.Glu937Asp) c.2778G>T (p.Glu926Asp) c.468G>T (p.Glu156Asp) c.1813G>T n.870-42C>A c.2424G>T (p.Glu808Asp) c.2067G>T (p.Glu689Asp) n.3125G>T | |
2 | g.166277046C= | CA1304964741 | SCN1A-AS1,SCN9A | c.2811G= (p.Glu937=) c.2778G= (p.Glu926=) c.468G= (p.Glu156=) c.1813G= n.870-42C= c.2424G= (p.Glu808=) c.2067G= (p.Glu689=) n.3125G= | |
2 | g.166277046C>G | CA349077227 | SCN1A-AS1,SCN9A | c.2811G>C (p.Glu937Asp) c.2778G>C (p.Glu926Asp) c.468G>C (p.Glu156Asp) c.1813G>C n.870-42C>G c.2424G>C (p.Glu808Asp) c.2067G>C (p.Glu689Asp) n.3125G>C | |
2 | g.166277046C>T | CA429978022 | SCN1A-AS1,SCN9A | c.2811G>A (p.Glu937=) c.2778G>A (p.Glu926=) c.468G>A (p.Glu156=) c.1813G>A n.870-42C>T c.2424G>A (p.Glu808=) c.2067G>A (p.Glu689=) n.3125G>A | dbSNP |
2 | g.166277047T>A | CA1944200 | SCN1A-AS1,SCN9A | c.2810A>T (p.Glu937Val) c.2777A>T (p.Glu926Val) c.467A>T (p.Glu156Val) c.1812A>T n.870-41T>A c.2423A>T (p.Glu808Val) c.2066A>T (p.Glu689Val) n.3124A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277047T>C | CA349077236 | SCN1A-AS1,SCN9A | c.2810A>G (p.Glu937Gly) c.2777A>G (p.Glu926Gly) c.467A>G (p.Glu156Gly) c.1812A>G n.870-41T>C c.2423A>G (p.Glu808Gly) c.2066A>G (p.Glu689Gly) n.3124A>G | |
2 | g.166277047T>G | CA349077242 | SCN1A-AS1,SCN9A | c.2810A>C (p.Glu937Ala) c.2777A>C (p.Glu926Ala) c.467A>C (p.Glu156Ala) c.1812A>C n.870-41T>G c.2423A>C (p.Glu808Ala) c.2066A>C (p.Glu689Ala) n.3124A>C | |
2 | g.166277047T= | CA1304964748 | SCN1A-AS1,SCN9A | c.2810A= (p.Glu937=) c.2777A= (p.Glu926=) c.467A= (p.Glu156=) c.1812A= n.870-41T= c.2423A= (p.Glu808=) c.2066A= (p.Glu689=) n.3124A= | |
2 | g.166277048C>A | CA349077248 | SCN1A-AS1,SCN9A | c.2809G>T (p.Glu937Ter) c.2776G>T (p.Glu926Ter) c.466G>T (p.Glu156Ter) c.1811G>T n.870-40C>A c.2422G>T (p.Glu808Ter) c.2065G>T (p.Glu689Ter) n.3123G>T | dbSNP |
2 | g.166277048C= | CA1304964751 | SCN1A-AS1,SCN9A | c.2809G= (p.Glu937=) c.2776G= (p.Glu926=) c.466G= (p.Glu156=) c.1811G= n.870-40C= c.2422G= (p.Glu808=) c.2065G= (p.Glu689=) n.3123G= | |
2 | g.166277048C>G | CA349077262 | SCN1A-AS1,SCN9A | c.2809G>C (p.Glu937Gln) c.2776G>C (p.Glu926Gln) c.466G>C (p.Glu156Gln) c.1811G>C n.870-40C>G c.2422G>C (p.Glu808Gln) c.2065G>C (p.Glu689Gln) n.3123G>C | |
2 | g.166277048C>T | CA59794502 | SCN1A-AS1,SCN9A | c.2809G>A (p.Glu937Lys) c.2776G>A (p.Glu926Lys) c.466G>A (p.Glu156Lys) c.1811G>A n.870-40C>T c.2422G>A (p.Glu808Lys) c.2065G>A (p.Glu689Lys) n.3123G>A | dbSNP |
2 | g.166277049C>A | CA349077271 | SCN1A-AS1,SCN9A | c.2808G>T (p.Met936Ile) c.2775G>T (p.Met925Ile) c.465G>T (p.Met155Ile) c.1810G>T n.870-39C>A c.2421G>T (p.Met807Ile) c.2064G>T (p.Met688Ile) n.3122G>T | |
2 | g.166277049C>G | CA349077276 | SCN1A-AS1,SCN9A | c.2808G>C (p.Met936Ile) c.2775G>C (p.Met925Ile) c.465G>C (p.Met155Ile) c.1810G>C n.870-39C>G c.2421G>C (p.Met807Ile) c.2064G>C (p.Met688Ile) n.3122G>C | |
2 | g.166277049C>T | CA349077274 | SCN1A-AS1,SCN9A | c.2808G>A (p.Met936Ile) c.2775G>A (p.Met925Ile) c.465G>A (p.Met155Ile) c.1810G>A n.870-39C>T c.2421G>A (p.Met807Ile) c.2064G>A (p.Met688Ile) n.3122G>A | gnomAD v4 |
2 | g.166277050A>C | CA349077281 | SCN1A-AS1,SCN9A | c.2807T>G (p.Met936Arg) c.2774T>G (p.Met925Arg) c.464T>G (p.Met155Arg) c.1809T>G n.870-38A>C c.2420T>G (p.Met807Arg) c.2063T>G (p.Met688Arg) n.3121T>G | |
2 | g.166277050A>G | CA349077283 | SCN1A-AS1,SCN9A | c.2807T>C (p.Met936Thr) c.2774T>C (p.Met925Thr) c.464T>C (p.Met155Thr) c.1809T>C n.870-38A>G c.2420T>C (p.Met807Thr) c.2063T>C (p.Met688Thr) n.3121T>C | ClinVar dbSNP |
2 | g.166277050A>T | CA349077287 | SCN1A-AS1,SCN9A | c.2807T>A (p.Met936Lys) c.2774T>A (p.Met925Lys) c.464T>A (p.Met155Lys) c.1809T>A n.870-38A>T c.2420T>A (p.Met807Lys) c.2063T>A (p.Met688Lys) n.3121T>A | |
2 | g.166277051T>A | CA349077291 | SCN1A-AS1,SCN9A | c.2806A>T (p.Met936Leu) c.2773A>T (p.Met925Leu) c.463A>T (p.Met155Leu) c.1808A>T n.870-37T>A c.2419A>T (p.Met807Leu) c.2062A>T (p.Met688Leu) n.3120A>T | |
2 | g.166277051T>C | CA349077294 | SCN1A-AS1,SCN9A | c.2806A>G (p.Met936Val) c.2773A>G (p.Met925Val) c.463A>G (p.Met155Val) c.1808A>G n.870-37T>C c.2419A>G (p.Met807Val) c.2062A>G (p.Met688Val) n.3120A>G | dbSNP gnomAD v2 |
2 | g.166277051T>G | CA349077296 | SCN1A-AS1,SCN9A | c.2806A>C (p.Met936Leu) c.2773A>C (p.Met925Leu) c.463A>C (p.Met155Leu) c.1808A>C n.870-37T>G c.2419A>C (p.Met807Leu) c.2062A>C (p.Met688Leu) n.3120A>C | |
2 | g.166277051T= | CA1304964754 | SCN1A-AS1,SCN9A | c.2806A= (p.Met936=) c.2773A= (p.Met925=) c.463A= (p.Met155=) c.1808A= n.870-37T= c.2419A= (p.Met807=) c.2062A= (p.Met688=) n.3120A= | |
2 | g.166277052A= | CA1304964758 | SCN1A-AS1,SCN9A | c.2805T= (p.Cys935=) c.2772T= (p.Cys924=) c.462T= (p.Cys154=) c.1807T= n.870-36A= c.2418T= (p.Cys806=) c.2061T= (p.Cys687=) n.3119T= | |
2 | g.166277052A>C | CA349077300 | SCN1A-AS1,SCN9A | c.2805T>G (p.Cys935Trp) c.2772T>G (p.Cys924Trp) c.462T>G (p.Cys154Trp) c.1807T>G n.870-36A>C c.2418T>G (p.Cys806Trp) c.2061T>G (p.Cys687Trp) n.3119T>G | |
2 | g.166277052A>G | CA59794504 | SCN1A-AS1,SCN9A | c.2805T>C (p.Cys935=) c.2772T>C (p.Cys924=) c.462T>C (p.Cys154=) c.1807T>C n.870-36A>G c.2418T>C (p.Cys806=) c.2061T>C (p.Cys687=) n.3119T>C | dbSNP |
2 | g.166277052A>T | CA349077304 | SCN1A-AS1,SCN9A | c.2805T>A (p.Cys935Ter) c.2772T>A (p.Cys924Ter) c.462T>A (p.Cys154Ter) c.1807T>A n.870-36A>T c.2418T>A (p.Cys806Ter) c.2061T>A (p.Cys687Ter) n.3119T>A | |
2 | g.166277053C>A | CA349077307 | SCN1A-AS1,SCN9A | c.2804G>T (p.Cys935Phe) c.2771G>T (p.Cys924Phe) c.461G>T (p.Cys154Phe) c.1806G>T n.870-35C>A c.2417G>T (p.Cys806Phe) c.2060G>T (p.Cys687Phe) n.3118G>T | |
2 | g.166277053C= | CA1304964763 | SCN1A-AS1,SCN9A | c.2804G= (p.Cys935=) c.2771G= (p.Cys924=) c.461G= (p.Cys154=) c.1806G= n.870-35C= c.2417G= (p.Cys806=) c.2060G= (p.Cys687=) n.3118G= | |
2 | g.166277053C>G | CA349077311 | SCN1A-AS1,SCN9A | c.2804G>C (p.Cys935Ser) c.2771G>C (p.Cys924Ser) c.461G>C (p.Cys154Ser) c.1806G>C n.870-35C>G c.2417G>C (p.Cys806Ser) c.2060G>C (p.Cys687Ser) n.3118G>C | |
2 | g.166277053C>T | CA59794516 | SCN1A-AS1,SCN9A | c.2804G>A (p.Cys935Tyr) c.2771G>A (p.Cys924Tyr) c.461G>A (p.Cys154Tyr) c.1806G>A n.870-35C>T c.2417G>A (p.Cys806Tyr) c.2060G>A (p.Cys687Tyr) n.3118G>A | dbSNP gnomAD v4 |
2 | g.166277054A>C | CA349077318 | SCN1A-AS1,SCN9A | c.2803T>G (p.Cys935Gly) c.2770T>G (p.Cys924Gly) c.460T>G (p.Cys154Gly) c.1805T>G n.870-34A>C c.2416T>G (p.Cys806Gly) c.2059T>G (p.Cys687Gly) n.3117T>G | |
2 | g.166277054A>G | CA349077325 | SCN1A-AS1,SCN9A | c.2803T>C (p.Cys935Arg) c.2770T>C (p.Cys924Arg) c.460T>C (p.Cys154Arg) c.1805T>C n.870-34A>G c.2416T>C (p.Cys806Arg) c.2059T>C (p.Cys687Arg) n.3117T>C | |
2 | g.166277054A>T | CA349077322 | SCN1A-AS1,SCN9A | c.2803T>A (p.Cys935Ser) c.2770T>A (p.Cys924Ser) c.460T>A (p.Cys154Ser) c.1805T>A n.870-34A>T c.2416T>A (p.Cys806Ser) c.2059T>A (p.Cys687Ser) n.3117T>A | gnomAD v4 |
2 | g.166277055G>A | CA429978041 | SCN1A-AS1,SCN9A | c.2802C>T (p.Asp934=) c.2769C>T (p.Asp923=) c.459C>T (p.Asp153=) c.1804C>T n.870-33G>A c.2415C>T (p.Asp805=) c.2058C>T (p.Asp686=) n.3116C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277055G>C | CA349077328 | SCN1A-AS1,SCN9A | c.2802C>G (p.Asp934Glu) c.2769C>G (p.Asp923Glu) c.459C>G (p.Asp153Glu) c.1804C>G n.870-33G>C c.2415C>G (p.Asp805Glu) c.2058C>G (p.Asp686Glu) n.3116C>G | |
2 | g.166277055G= | CA1304964767 | SCN1A-AS1,SCN9A | c.2802C= (p.Asp934=) c.2769C= (p.Asp923=) c.459C= (p.Asp153=) c.1804C= n.870-33G= c.2415C= (p.Asp805=) c.2058C= (p.Asp686=) n.3116C= | |
2 | g.166277055G>T | CA349077331 | SCN1A-AS1,SCN9A | c.2802C>A (p.Asp934Glu) c.2769C>A (p.Asp923Glu) c.459C>A (p.Asp153Glu) c.1804C>A n.870-33G>T c.2415C>A (p.Asp805Glu) c.2058C>A (p.Asp686Glu) n.3116C>A | |
2 | g.166277056T>A | CA349077335 | SCN1A-AS1,SCN9A | c.2801A>T (p.Asp934Val) c.2768A>T (p.Asp923Val) c.458A>T (p.Asp153Val) c.1803A>T n.870-32T>A c.2414A>T (p.Asp805Val) c.2057A>T (p.Asp686Val) n.3115A>T | |
2 | g.166277056T>C | CA349077342 | SCN1A-AS1,SCN9A | c.2801A>G (p.Asp934Gly) c.2768A>G (p.Asp923Gly) c.458A>G (p.Asp153Gly) c.1803A>G n.870-32T>C c.2414A>G (p.Asp805Gly) c.2057A>G (p.Asp686Gly) n.3115A>G | |
2 | g.166277056T>G | CA349077338 | SCN1A-AS1,SCN9A | c.2801A>C (p.Asp934Ala) c.2768A>C (p.Asp923Ala) c.458A>C (p.Asp153Ala) c.1803A>C n.870-32T>G c.2414A>C (p.Asp805Ala) c.2057A>C (p.Asp686Ala) n.3115A>C | ClinVar dbSNP |
2 | g.166277056T= | CA1304964771 | SCN1A-AS1,SCN9A | c.2801A= (p.Asp934=) c.2768A= (p.Asp923=) c.458A= (p.Asp153=) c.1803A= n.870-32T= c.2414A= (p.Asp805=) c.2057A= (p.Asp686=) n.3115A= |