Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51769180_51769182delCA2618842074SCN8Ac.3217_3219del (p.Ser1073del)
c.1064_1066del
c.1281_1283del
c.3250_3252del (p.Ser1084del)
n.209_211del
 gnomAD v4
12g.51769180A>CCA384893054SCN8Ac.3217A>C (p.Ser1073Arg)
c.1064A>C
c.1281A>C
c.3250A>C (p.Ser1084Arg)
n.209A>C
12g.51769180A>GCA384893053SCN8Ac.3217A>G (p.Ser1073Gly)
c.1064A>G
c.1281A>G
c.3250A>G (p.Ser1084Gly)
n.209A>G
12g.51769180A>TCA384893052SCN8Ac.3217A>T (p.Ser1073Cys)
c.1064A>T
c.1281A>T
c.3250A>T (p.Ser1084Cys)
n.209A>T
12g.51769181G>ACA384893055SCN8Ac.3218G>A (p.Ser1073Asn)
c.1065G>A
c.1282G>A
c.3251G>A (p.Ser1084Asn)
n.210G>A
12g.51769181G>CCA384893056SCN8Ac.3218G>C (p.Ser1073Thr)
c.1065G>C
c.1282G>C
c.3251G>C (p.Ser1084Thr)
n.210G>C
12g.51769181G>TCA384893059SCN8Ac.3218G>T (p.Ser1073Ile)
c.1065G>T
c.1282G>T
c.3251G>T (p.Ser1084Ile)
n.210G>T
 gnomAD v4
12g.51769182C>ACA384893062SCN8Ac.3219C>A (p.Ser1073Arg)
c.1066C>A
c.1283C>A
c.3252C>A (p.Ser1084Arg)
n.211C>A
12g.51769182C=CA2036188405SCN8Ac.3219C= (p.Ser1073=)
c.1066C=
c.1283C=
c.3252C= (p.Ser1084=)
n.211C=
12g.51769182C>GCA384893064SCN8Ac.3219C>G (p.Ser1073Arg)
c.1066C>G
c.1283C>G
c.3252C>G (p.Ser1084Arg)
n.211C>G
12g.51769182C>TCA6571560SCN8Ac.3219C>T (p.Ser1073=)
c.1066C>T
c.1283C>T
c.3252C>T (p.Ser1084=)
n.211C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769183G>ACA6571561SCN8Ac.3220G>A (p.Val1074Met)
c.1067G>A
c.1284G>A
c.3253G>A (p.Val1085Met)
n.212G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769183G>CCA384893069SCN8Ac.3220G>C (p.Val1074Leu)
c.1067G>C
c.1284G>C
c.3253G>C (p.Val1085Leu)
n.212G>C
12g.51769183G=CA2036188410SCN8Ac.3220G= (p.Val1074=)
c.1067G=
c.1284G=
c.3253G= (p.Val1085=)
n.212G=
12g.51769183G>TCA384893071SCN8Ac.3220G>T (p.Val1074Leu)
c.1067G>T
c.1284G>T
c.3253G>T (p.Val1085Leu)
n.212G>T
 dbSNP
12g.51769184T>ACA384893074SCN8Ac.3221T>A (p.Val1074Glu)
c.1068T>A
c.1285T>A
c.3254T>A (p.Val1085Glu)
n.213T>A
12g.51769184T>CCA384893076SCN8Ac.3221T>C (p.Val1074Ala)
c.1068T>C
c.1285T>C
c.3254T>C (p.Val1085Ala)
n.213T>C
12g.51769184T>GCA384893081SCN8Ac.3221T>G (p.Val1074Gly)
c.1068T>G
c.1285T>G
c.3254T>G (p.Val1085Gly)
n.213T>G
12g.51769184T=CA2036188417SCN8Ac.3221T= (p.Val1074=)
c.1068T=
c.1285T=
c.3254T= (p.Val1085=)
n.213T=
12g.51769185G>ACA480061265SCN8Ac.3222G>A (p.Val1074=)
c.1069G>A
c.1286G>A
c.3255G>A (p.Val1085=)
n.214G>A
12g.51769185G>CCA480061267SCN8Ac.3222G>C (p.Val1074=)
c.1069G>C
c.1286G>C
c.3255G>C (p.Val1085=)
n.214G>C
12g.51769185G>TCA480061266SCN8Ac.3222G>T (p.Val1074=)
c.1069G>T
c.1286G>T
c.3255G>T (p.Val1085=)
n.214G>T
12g.51769188_51769208dupCA605238528SCN8Ac.3225_3245dup (p.Glu1081_Asp1082insGluLysTyrIleIleAspGlu)
c.1072_1092dup
c.1289_1309dup
c.3258_3278dup (p.Glu1092_Asp1093insGluLysTyrIleIleAspGlu)
n.217_237dup
 dbSNP gnomAD v2 gnomAD v4
12g.51769186G>ACA384893087SCN8Ac.3223G>A (p.Glu1075Lys)
c.1070G>A
c.1287G>A
c.3256G>A (p.Glu1086Lys)
n.215G>A
 gnomAD v4
12g.51769186G>CCA384893086SCN8Ac.3223G>C (p.Glu1075Gln)
c.1070G>C
c.1287G>C
c.3256G>C (p.Glu1086Gln)
n.215G>C
12g.51769186G=CA2036188423SCN8Ac.3223G= (p.Glu1075=)
c.1070G=
c.1287G=
c.3256G= (p.Glu1086=)
n.215G=
12g.51769186G>TCA384893084SCN8Ac.3223G>T (p.Glu1075Ter)
c.1070G>T
c.1287G>T
c.3256G>T (p.Glu1086Ter)
n.215G>T
 dbSNP
12g.51769187A>CCA384893088SCN8Ac.3224A>C (p.Glu1075Ala)
c.1071A>C
c.1288A>C
c.3257A>C (p.Glu1086Ala)
n.216A>C
12g.51769187A>GCA384893089SCN8Ac.3224A>G (p.Glu1075Gly)
c.1071A>G
c.1288A>G
c.3257A>G (p.Glu1086Gly)
n.216A>G
 COSMIC COSMIC
12g.51769187A>TCA384893091SCN8Ac.3224A>T (p.Glu1075Val)
c.1071A>T
c.1288A>T
c.3257A>T (p.Glu1086Val)
n.216A>T
12g.51769188G>ACA480061268SCN8Ac.3225G>A (p.Glu1075=)
c.1072G>A
c.1289G>A
c.3258G>A (p.Glu1086=)
n.217G>A
12g.51769188G>CCA384893093SCN8Ac.3225G>C (p.Glu1075Asp)
c.1072G>C
c.1289G>C
c.3258G>C (p.Glu1086Asp)
n.217G>C
12g.51769188G>TCA384893095SCN8Ac.3225G>T (p.Glu1075Asp)
c.1072G>T
c.1289G>T
c.3258G>T (p.Glu1086Asp)
n.217G>T
12g.51769189A=CA2036188431SCN8Ac.3226A= (p.Lys1076=)
c.1073A=
c.1290A=
c.3259A= (p.Lys1087=)
n.218A=
12g.51769189A>CCA384893096SCN8Ac.3226A>C (p.Lys1076Gln)
c.1073A>C
c.1290A>C
c.3259A>C (p.Lys1087Gln)
n.218A>C
12g.51769189A>GCA384893098SCN8Ac.3226A>G (p.Lys1076Glu)
c.1073A>G
c.1290A>G
c.3259A>G (p.Lys1087Glu)
n.218A>G
12g.51769189A>TCA384893100SCN8Ac.3226A>T (p.Lys1076Ter)
c.1073A>T
c.1290A>T
c.3259A>T (p.Lys1087Ter)
n.218A>T
 dbSNP
12g.51769190A>CCA384893101SCN8Ac.3227A>C (p.Lys1076Thr)
c.1074A>C
c.1291A>C
c.3260A>C (p.Lys1087Thr)
n.219A>C
12g.51769190A>GCA384893102SCN8Ac.3227A>G (p.Lys1076Arg)
c.1074A>G
c.1291A>G
c.3260A>G (p.Lys1087Arg)
n.219A>G
12g.51769190A>TCA384893103SCN8Ac.3227A>T (p.Lys1076Met)
c.1074A>T
c.1291A>T
c.3260A>T (p.Lys1087Met)
n.219A>T
12g.51769191G>ACA480061269SCN8Ac.3228G>A (p.Lys1076=)
c.1075G>A
c.1292G>A
c.3261G>A (p.Lys1087=)
n.220G>A
12g.51769191G>CCA384893105SCN8Ac.3228G>C (p.Lys1076Asn)
c.1075G>C
c.1292G>C
c.3261G>C (p.Lys1087Asn)
n.220G>C
12g.51769191G>TCA384893106SCN8Ac.3228G>T (p.Lys1076Asn)
c.1075G>T
c.1292G>T
c.3261G>T (p.Lys1087Asn)
n.220G>T
12g.51769192T>ACA384893111SCN8Ac.3229T>A (p.Tyr1077Asn)
c.1076T>A
c.1293T>A
c.3262T>A (p.Tyr1088Asn)
n.221T>A
12g.51769192T>CCA384893107SCN8Ac.3229T>C (p.Tyr1077His)
c.1076T>C
c.1293T>C
c.3262T>C (p.Tyr1088His)
n.221T>C
 ClinVar gnomAD v4
12g.51769192T>GCA384893109SCN8Ac.3229T>G (p.Tyr1077Asp)
c.1076T>G
c.1293T>G
c.3262T>G (p.Tyr1088Asp)
n.221T>G
12g.51769193A=CA2036188438SCN8Ac.3230A= (p.Tyr1077=)
c.1077A=
c.1294A=
c.3263A= (p.Tyr1088=)
n.222A=
12g.51769193A>CCA384893112SCN8Ac.3230A>C (p.Tyr1077Ser)
c.1077A>C
c.1294A>C
c.3263A>C (p.Tyr1088Ser)
n.222A>C
12g.51769193A>GCA6571562SCN8Ac.3230A>G (p.Tyr1077Cys)
c.1077A>G
c.1294A>G
c.3263A>G (p.Tyr1088Cys)
n.222A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769193A>TCA384893113SCN8Ac.3230A>T (p.Tyr1077Phe)
c.1077A>T
c.1294A>T
c.3263A>T (p.Tyr1088Phe)
n.222A>T
12g.51769194C>ACA384893114SCN8Ac.3231C>A (p.Tyr1077Ter)
c.1078C>A
c.1295C>A
c.3264C>A (p.Tyr1088Ter)
n.223C>A
12g.51769194C>GCA384893116SCN8Ac.3231C>G (p.Tyr1077Ter)
c.1078C>G
c.1295C>G
c.3264C>G (p.Tyr1088Ter)
n.223C>G
12g.51769194C>TCA480061270SCN8Ac.3231C>T (p.Tyr1077=)
c.1078C>T
c.1295C>T
c.3264C>T (p.Tyr1088=)
n.223C>T
 gnomAD v4
12g.51769195A>CCA384893125SCN8Ac.3232A>C (p.Ile1078Leu)
c.1079A>C
c.1296A>C
c.3265A>C (p.Ile1089Leu)
n.224A>C
12g.51769195A>GCA384893127SCN8Ac.3232A>G (p.Ile1078Val)
c.1079A>G
c.1296A>G
c.3265A>G (p.Ile1089Val)
n.224A>G
 gnomAD v4
12g.51769195A>TCA384893128SCN8Ac.3232A>T (p.Ile1078Phe)
c.1079A>T
c.1296A>T
c.3265A>T (p.Ile1089Phe)
n.224A>T
12g.51769196T>ACA384893129SCN8Ac.3233T>A (p.Ile1078Asn)
c.1080T>A
c.1297T>A
c.3266T>A (p.Ile1089Asn)
n.225T>A
12g.51769196T>CCA384893130SCN8Ac.3233T>C (p.Ile1078Thr)
c.1080T>C
c.1297T>C
c.3266T>C (p.Ile1089Thr)
n.225T>C
12g.51769196T>GCA384893131SCN8Ac.3233T>G (p.Ile1078Ser)
c.1080T>G
c.1297T>G
c.3266T>G (p.Ile1089Ser)
n.225T>G
12g.51769197C>ACA480061271SCN8Ac.3234C>A (p.Ile1078=)
c.1081C>A
c.1298C>A
c.3267C>A (p.Ile1089=)
n.226C>A
12g.51769197C>GCA384893132SCN8Ac.3234C>G (p.Ile1078Met)
c.1081C>G
c.1298C>G
c.3267C>G (p.Ile1089Met)
n.226C>G
12g.51769197C>TCA480061272SCN8Ac.3234C>T (p.Ile1078=)
c.1081C>T
c.1298C>T
c.3267C>T (p.Ile1089=)
n.226C>T
12g.51769198A=CA2036188444SCN8Ac.3235A= (p.Ile1079=)
c.1082A=
c.1299A=
c.3268A= (p.Ile1090=)
n.227A=
12g.51769198A>CCA384893135SCN8Ac.3235A>C (p.Ile1079Leu)
c.1082A>C
c.1299A>C
c.3268A>C (p.Ile1090Leu)
n.227A>C
12g.51769198A>GCA6571563SCN8Ac.3235A>G (p.Ile1079Val)
c.1082A>G
c.1299A>G
c.3268A>G (p.Ile1090Val)
n.227A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51769198A>TCA384893136SCN8Ac.3235A>T (p.Ile1079Phe)
c.1082A>T
c.1299A>T
c.3268A>T (p.Ile1090Phe)
n.227A>T
12g.51769199T>ACA384893139SCN8Ac.3236T>A (p.Ile1079Asn)
c.1083T>A
c.1300T>A
c.3269T>A (p.Ile1090Asn)
n.228T>A
12g.51769199T>CCA384893141SCN8Ac.3236T>C (p.Ile1079Thr)
c.1083T>C
c.1300T>C
c.3269T>C (p.Ile1090Thr)
n.228T>C
 dbSNP gnomAD v4
12g.51769199T>GCA384893140SCN8Ac.3236T>G (p.Ile1079Ser)
c.1083T>G
c.1300T>G
c.3269T>G (p.Ile1090Ser)
n.228T>G
12g.51769199T=CA2036188452SCN8Ac.3236T= (p.Ile1079=)
c.1083T=
c.1300T=
c.3269T= (p.Ile1090=)
n.228T=
12g.51769200T>ACA480061290SCN8Ac.3237T>A (p.Ile1079=)
c.1084T>A
c.1301T>A
c.3270T>A (p.Ile1090=)
n.229T>A
12g.51769200T>CCA480061293SCN8Ac.3237T>C (p.Ile1079=)
c.1084T>C
c.1301T>C
c.3270T>C (p.Ile1090=)
n.229T>C
12g.51769200T>GCA384893143SCN8Ac.3237T>G (p.Ile1079Met)
c.1084T>G
c.1301T>G
c.3270T>G (p.Ile1090Met)
n.229T>G
12g.51769201G>ACA384893146SCN8Ac.3238G>A (p.Asp1080Asn)
c.1085G>A
c.1302G>A
c.3271G>A (p.Asp1091Asn)
n.230G>A
12g.51769201G>CCA384893149SCN8Ac.3238G>C (p.Asp1080His)
c.1085G>C
c.1302G>C
c.3271G>C (p.Asp1091His)
n.230G>C
12g.51769201G>TCA384893150SCN8Ac.3238G>T (p.Asp1080Tyr)
c.1085G>T
c.1302G>T
c.3271G>T (p.Asp1091Tyr)
n.230G>T
12g.51769202A>CCA384893151SCN8Ac.3239A>C (p.Asp1080Ala)
c.1086A>C
c.1303A>C
c.3272A>C (p.Asp1091Ala)
n.231A>C
12g.51769202A>GCA384893152SCN8Ac.3239A>G (p.Asp1080Gly)
c.1086A>G
c.1303A>G
c.3272A>G (p.Asp1091Gly)
n.231A>G
 ClinVar
12g.51769202A>TCA384893153SCN8Ac.3239A>T (p.Asp1080Val)
c.1086A>T
c.1303A>T
c.3272A>T (p.Asp1091Val)
n.231A>T
12g.51769203T>ACA384893154SCN8Ac.3240T>A (p.Asp1080Glu)
c.1087T>A
c.1304T>A
c.3273T>A (p.Asp1091Glu)
n.232T>A
 ClinVar
12g.51769203T>CCA480061298SCN8Ac.3240T>C (p.Asp1080=)
c.1087T>C
c.1304T>C
c.3273T>C (p.Asp1091=)
n.232T>C
12g.51769203T>GCA384893156SCN8Ac.3240T>G (p.Asp1080Glu)
c.1087T>G
c.1304T>G
c.3273T>G (p.Asp1091Glu)
n.232T>G
12g.51769204G>ACA384893161SCN8Ac.3241G>A (p.Glu1081Lys)
c.1088G>A
c.1305G>A
c.3274G>A (p.Glu1092Lys)
n.233G>A
12g.51769204G>CCA384893162SCN8Ac.3241G>C (p.Glu1081Gln)
c.1088G>C
c.1305G>C
c.3274G>C (p.Glu1092Gln)
n.233G>C
12g.51769204G=CA2036188456SCN8Ac.3241G= (p.Glu1081=)
c.1088G=
c.1305G=
c.3274G= (p.Glu1092=)
n.233G=
12g.51769204G>TCA384893163SCN8Ac.3241G>T (p.Glu1081Ter)
c.1088G>T
c.1305G>T
c.3274G>T (p.Glu1092Ter)
n.233G>T
 dbSNP COSMIC COSMIC
12g.51769205A>CCA384893172SCN8Ac.3242A>C (p.Glu1081Ala)
c.1089A>C
c.1306A>C
c.3275A>C (p.Glu1092Ala)
n.234A>C
12g.51769205A>GCA384893166SCN8Ac.3242A>G (p.Glu1081Gly)
c.1089A>G
c.1306A>G
c.3275A>G (p.Glu1092Gly)
n.234A>G
12g.51769205A>TCA384893164SCN8Ac.3242A>T (p.Glu1081Val)
c.1089A>T
c.1306A>T
c.3275A>T (p.Glu1092Val)
n.234A>T
12g.51769206G>ACA480061304SCN8Ac.3243G>A (p.Glu1081=)
c.1090G>A
c.1307G>A
c.3276G>A (p.Glu1092=)
n.235G>A
12g.51769206G>CCA384893185SCN8Ac.3243G>C (p.Glu1081Asp)
c.1090G>C
c.1307G>C
c.3276G>C (p.Glu1092Asp)
n.235G>C
12g.51769206G>TCA384893186SCN8Ac.3243G>T (p.Glu1081Asp)
c.1090G>T
c.1307G>T
c.3276G>T (p.Glu1092Asp)
n.235G>T
12g.51769207G>ACA384893191SCN8Ac.3244G>A (p.Asp1082Asn)
c.1091G>A
c.1308G>A
c.3277G>A (p.Asp1093Asn)
n.236G>A
12g.51769207G>CCA384893194SCN8Ac.3244G>C (p.Asp1082His)
c.1091G>C
c.1308G>C
c.3277G>C (p.Asp1093His)
n.236G>C
12g.51769207G>TCA384893195SCN8Ac.3244G>T (p.Asp1082Tyr)
c.1091G>T
c.1308G>T
c.3277G>T (p.Asp1093Tyr)
n.236G>T
 ClinVar
12g.51769208A>CCA384893196SCN8Ac.3245A>C (p.Asp1082Ala)
c.1092A>C
c.1309A>C
c.3278A>C (p.Asp1093Ala)
n.237A>C
12g.51769208A>GCA384893197SCN8Ac.3245A>G (p.Asp1082Gly)
c.1092A>G
c.1309A>G
c.3278A>G (p.Asp1093Gly)
n.237A>G
12g.51769208A>TCA384893199SCN8Ac.3245A>T (p.Asp1082Val)
c.1092A>T
c.1309A>T
c.3278A>T (p.Asp1093Val)
n.237A>T
 ClinVar dbSNP
12g.51769209C>ACA6571564SCN8Ac.3246C>A (p.Asp1082Glu)
c.1093C>A
c.1310C>A
c.3279C>A (p.Asp1093Glu)
n.238C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769209C=CA2036188458SCN8Ac.3246C= (p.Asp1082=)
c.1093C=
c.1310C=
c.3279C= (p.Asp1093=)
n.238C=
12g.51769209C>GCA384893204SCN8Ac.3246C>G (p.Asp1082Glu)
c.1093C>G
c.1310C>G
c.3279C>G (p.Asp1093Glu)
n.238C>G
12g.51769209C>TCA480061308SCN8Ac.3246C>T (p.Asp1082=)
c.1093C>T
c.1310C>T
c.3279C>T (p.Asp1093=)
n.238C>T
12g.51769210C>ACA384893207SCN8Ac.3247C>A (p.His1083Asn)
c.1094C>A
c.1311C>A
c.3280C>A (p.His1094Asn)
n.239C>A
12g.51769210C>GCA384893209SCN8Ac.3247C>G (p.His1083Asp)
c.1094C>G
c.1311C>G
c.3280C>G (p.His1094Asp)
n.239C>G
12g.51769210C>TCA384893212SCN8Ac.3247C>T (p.His1083Tyr)
c.1094C>T
c.1311C>T
c.3280C>T (p.His1094Tyr)
n.239C>T
 gnomAD v4
12g.51769211A>CCA384893216SCN8Ac.3248A>C (p.His1083Pro)
c.1095A>C
c.1312A>C
c.3281A>C (p.His1094Pro)
n.240A>C
12g.51769211A>GCA384893217SCN8Ac.3248A>G (p.His1083Arg)
c.1095A>G
c.1312A>G
c.3281A>G (p.His1094Arg)
n.240A>G
12g.51769211A>TCA384893215SCN8Ac.3248A>T (p.His1083Leu)
c.1095A>T
c.1312A>T
c.3281A>T (p.His1094Leu)
n.240A>T
12g.51769212C>ACA384893218SCN8Ac.3249C>A (p.His1083Gln)
c.1096C>A
c.1313C>A
c.3282C>A (p.His1094Gln)
n.241C>A
12g.51769212C>GCA384893219SCN8Ac.3249C>G (p.His1083Gln)
c.1096C>G
c.1313C>G
c.3282C>G (p.His1094Gln)
n.241C>G
12g.51769212C>TCA480061313SCN8Ac.3249C>T (p.His1083=)
c.1096C>T
c.1313C>T
c.3282C>T (p.His1094=)
n.241C>T
12g.51769213A>CCA384893220SCN8Ac.3250A>C (p.Met1084Leu)
c.1097A>C
c.1314A>C
c.3283A>C (p.Met1095Leu)
n.242A>C
12g.51769213A>GCA384893222SCN8Ac.3250A>G (p.Met1084Val)
c.1097A>G
c.1314A>G
c.3283A>G (p.Met1095Val)
n.242A>G
 ClinVar dbSNP gnomAD v4
12g.51769213A>TCA384893225SCN8Ac.3250A>T (p.Met1084Leu)
c.1097A>T
c.1314A>T
c.3283A>T (p.Met1095Leu)
n.242A>T
 gnomAD v4
12g.51769214T>ACA384893226SCN8Ac.3251T>A (p.Met1084Lys)
c.1098T>A
c.1315T>A
c.3284T>A (p.Met1095Lys)
n.243T>A
12g.51769214T>CCA384893227SCN8Ac.3251T>C (p.Met1084Thr)
c.1098T>C
c.1315T>C
c.3284T>C (p.Met1095Thr)
n.243T>C
12g.51769214T>GCA384893228SCN8Ac.3251T>G (p.Met1084Arg)
c.1098T>G
c.1315T>G
c.3284T>G (p.Met1095Arg)
n.243T>G
12g.51769215_51769220delCA2618840719SCN8Ac.3252_3257del (p.Met1084_Phe1086delinsIle)
c.1099_1104del
c.1316_1321del
c.3285_3290del (p.Met1095_Phe1097delinsIle)
n.244_249del
 gnomAD v4
12g.51769215G>ACA384893234SCN8Ac.3252G>A (p.Met1084Ile)
c.1099G>A
c.1316G>A
c.3285G>A (p.Met1095Ile)
n.244G>A
12g.51769215G>CCA384893235SCN8Ac.3252G>C (p.Met1084Ile)
c.1099G>C
c.1316G>C
c.3285G>C (p.Met1095Ile)
n.244G>C
12g.51769215G>TCA384893237SCN8Ac.3252G>T (p.Met1084Ile)
c.1099G>T
c.1316G>T
c.3285G>T (p.Met1095Ile)
n.244G>T
12g.51769216T>ACA384893242SCN8Ac.3253T>A (p.Ser1085Thr)
c.1100T>A
c.1317T>A
c.3286T>A (p.Ser1096Thr)
n.245T>A
 dbSNP gnomAD v2 gnomAD v4
12g.51769216T>CCA384893239SCN8Ac.3253T>C (p.Ser1085Pro)
c.1100T>C
c.1317T>C
c.3286T>C (p.Ser1096Pro)
n.245T>C
12g.51769216T>GCA384893241SCN8Ac.3253T>G (p.Ser1085Ala)
c.1100T>G
c.1317T>G
c.3286T>G (p.Ser1096Ala)
n.245T>G
12g.51769216T=CA2036188461SCN8Ac.3253T= (p.Ser1085=)
c.1100T=
c.1317T=
c.3286T= (p.Ser1096=)
n.245T=
12g.51769217C>ACA384893243SCN8Ac.3254C>A (p.Ser1085Tyr)
c.1101C>A
c.1318C>A
c.3287C>A (p.Ser1096Tyr)
n.246C>A
12g.51769217C=CA2036188466SCN8Ac.3254C= (p.Ser1085=)
c.1101C=
c.1318C=
c.3287C= (p.Ser1096=)
n.246C=
12g.51769217C>GCA384893245SCN8Ac.3254C>G (p.Ser1085Cys)
c.1101C>G
c.1318C>G
c.3287C>G (p.Ser1096Cys)
n.246C>G
12g.51769217C>TCA384893246SCN8Ac.3254C>T (p.Ser1085Phe)
c.1101C>T
c.1318C>T
c.3287C>T (p.Ser1096Phe)
n.246C>T
 dbSNP gnomAD v4
12g.51769218C>ACA480061324SCN8Ac.3255C>A (p.Ser1085=)
c.1102C>A
c.1319C>A
c.3288C>A (p.Ser1096=)
n.247C>A
 gnomAD v4
12g.51769218C>GCA480061325SCN8Ac.3255C>G (p.Ser1085=)
c.1102C>G
c.1319C>G
c.3288C>G (p.Ser1096=)
n.247C>G
12g.51769218C>TCA480061326SCN8Ac.3255C>T (p.Ser1085=)
c.1102C>T
c.1319C>T
c.3288C>T (p.Ser1096=)
n.247C>T
12g.51769219T>ACA384893247SCN8Ac.3256T>A (p.Phe1086Ile)
c.1103T>A
c.1320T>A
c.3289T>A (p.Phe1097Ile)
n.248T>A
12g.51769219T>CCA384893248SCN8Ac.3256T>C (p.Phe1086Leu)
c.1103T>C
c.1320T>C
c.3289T>C (p.Phe1097Leu)
n.248T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51769219T>GCA384893249SCN8Ac.3256T>G (p.Phe1086Val)
c.1103T>G
c.1320T>G
c.3289T>G (p.Phe1097Val)
n.248T>G
12g.51769219T=CA2036188472SCN8Ac.3256T= (p.Phe1086=)
c.1103T=
c.1320T=
c.3289T= (p.Phe1097=)
n.248T=
12g.51769220T>ACA384893250SCN8Ac.3257T>A (p.Phe1086Tyr)
c.1104T>A
c.1321T>A
c.3290T>A (p.Phe1097Tyr)
n.249T>A
12g.51769220T>CCA384893251SCN8Ac.3257T>C (p.Phe1086Ser)
c.1104T>C
c.1321T>C
c.3290T>C (p.Phe1097Ser)
n.249T>C
12g.51769220T>GCA384893252SCN8Ac.3257T>G (p.Phe1086Cys)
c.1104T>G
c.1321T>G
c.3290T>G (p.Phe1097Cys)
n.249T>G
12g.51769221C>ACA384893253SCN8Ac.3258C>A (p.Phe1086Leu)
c.1105C>A
c.1322C>A
c.3291C>A (p.Phe1097Leu)
n.250C>A
 dbSNP gnomAD v3 gnomAD v4
12g.51769221C=CA2036188478SCN8Ac.3258C= (p.Phe1086=)
c.1105C=
c.1322C=
c.3291C= (p.Phe1097=)
n.250C=
12g.51769221C>GCA384893254SCN8Ac.3258C>G (p.Phe1086Leu)
c.1105C>G
c.1322C>G
c.3291C>G (p.Phe1097Leu)
n.250C>G
12g.51769221C>TCA480061330SCN8Ac.3258C>T (p.Phe1086=)
c.1105C>T
c.1322C>T
c.3291C>T (p.Phe1097=)
n.250C>T
 gnomAD v4
12g.51769222A=CA2036188483SCN8Ac.3259A= (p.Ile1087=)
c.1106A=
c.1323A=
c.3292A= (p.Ile1098=)
n.251A=
12g.51769222A>CCA384893260SCN8Ac.3259A>C (p.Ile1087Leu)
c.1106A>C
c.1323A>C
c.3292A>C (p.Ile1098Leu)
n.251A>C
12g.51769222A>GCA6571565SCN8Ac.3259A>G (p.Ile1087Val)
c.1106A>G
c.1323A>G
c.3292A>G (p.Ile1098Val)
n.251A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769222A>TCA384893258SCN8Ac.3259A>T (p.Ile1087Phe)
c.1106A>T
c.1323A>T
c.3292A>T (p.Ile1098Phe)
n.251A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51769223T>ACA384893264SCN8Ac.3260T>A (p.Ile1087Asn)
c.1107T>A
c.1324T>A
c.3293T>A (p.Ile1098Asn)
n.252T>A
12g.51769223T>CCA384893261SCN8Ac.3260T>C (p.Ile1087Thr)
c.1107T>C
c.1324T>C
c.3293T>C (p.Ile1098Thr)
n.252T>C
12g.51769223T>GCA384893263SCN8Ac.3260T>G (p.Ile1087Ser)
c.1107T>G
c.1324T>G
c.3293T>G (p.Ile1098Ser)
n.252T>G
12g.51769224C>ACA480061333SCN8Ac.3261C>A (p.Ile1087=)
c.1108C>A
c.1325C>A
c.3294C>A (p.Ile1098=)
n.253C>A
12g.51769224C>GCA384893265SCN8Ac.3261C>G (p.Ile1087Met)
c.1108C>G
c.1325C>G
c.3294C>G (p.Ile1098Met)
n.253C>G
 ClinVar dbSNP
12g.51769224C>TCA480061334SCN8Ac.3261C>T (p.Ile1087=)
c.1108C>T
c.1325C>T
c.3294C>T (p.Ile1098=)
n.253C>T
 COSMIC COSMIC
12g.51769225A=CA2036188488SCN8Ac.3262A= (p.Asn1088=)
c.1109A=
c.1326A=
c.3295A= (p.Asn1099=)
n.254A=
12g.51769225A>CCA384893267SCN8Ac.3262A>C (p.Asn1088His)
c.1109A>C
c.1326A>C
c.3295A>C (p.Asn1099His)
n.254A>C
12g.51769225A>GCA384893271SCN8Ac.3262A>G (p.Asn1088Asp)
c.1109A>G
c.1326A>G
c.3295A>G (p.Asn1099Asp)
n.254A>G
 dbSNP gnomAD v3 gnomAD v4
12g.51769225A>TCA384893273SCN8Ac.3262A>T (p.Asn1088Tyr)
c.1109A>T
c.1326A>T
c.3295A>T (p.Asn1099Tyr)
n.254A>T
12g.51769226A=CA2036188493SCN8Ac.3263A= (p.Asn1088=)
c.1110A=
c.1327A=
c.3296A= (p.Asn1099=)
n.255A=
12g.51769226A>CCA384893277SCN8Ac.3263A>C (p.Asn1088Thr)
c.1110A>C
c.1327A>C
c.3296A>C (p.Asn1099Thr)
n.255A>C
12g.51769226A>GCA384893280SCN8Ac.3263A>G (p.Asn1088Ser)
c.1110A>G
c.1327A>G
c.3296A>G (p.Asn1099Ser)
n.255A>G
 dbSNP
12g.51769226A>TCA384893281SCN8Ac.3263A>T (p.Asn1088Ile)
c.1110A>T
c.1327A>T
c.3296A>T (p.Asn1099Ile)
n.255A>T
12g.51769227C>ACA384893286SCN8Ac.3264C>A (p.Asn1088Lys)
c.1111C>A
c.1328C>A
c.3297C>A (p.Asn1099Lys)
n.256C>A
12g.51769227C=CA2036188496SCN8Ac.3264C= (p.Asn1088=)
c.1111C=
c.1328C=
c.3297C= (p.Asn1099=)
n.256C=
12g.51769227C>GCA384893288SCN8Ac.3264C>G (p.Asn1088Lys)
c.1111C>G
c.1328C>G
c.3297C>G (p.Asn1099Lys)
n.256C>G
12g.51769227C>TCA6571566SCN8Ac.3264C>T (p.Asn1088=)
c.1111C>T
c.1328C>T
c.3297C>T (p.Asn1099=)
n.256C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769228A>CCA384893291SCN8Ac.3265A>C (p.Asn1089His)
c.1112A>C
c.1329A>C
c.3298A>C (p.Asn1100His)
n.257A>C
12g.51769228A>GCA384893289SCN8Ac.3265A>G (p.Asn1089Asp)
c.1112A>G
c.1329A>G
c.3298A>G (p.Asn1100Asp)
n.257A>G
12g.51769228A>TCA384893290SCN8Ac.3265A>T (p.Asn1089Tyr)
c.1112A>T
c.1329A>T
c.3298A>T (p.Asn1100Tyr)
n.257A>T
12g.51769229A=CA2036188499SCN8Ac.3266A= (p.Asn1089=)
c.1113A=
c.1330A=
c.3299A= (p.Asn1100=)
n.258A=
12g.51769229A>CCA384893292SCN8Ac.3266A>C (p.Asn1089Thr)
c.1113A>C
c.1330A>C
c.3299A>C (p.Asn1100Thr)
n.258A>C
12g.51769229A>GCA6571567SCN8Ac.3266A>G (p.Asn1089Ser)
c.1113A>G
c.1330A>G
c.3299A>G (p.Asn1100Ser)
n.258A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769229A>TCA384893293SCN8Ac.3266A>T (p.Asn1089Ile)
c.1113A>T
c.1330A>T
c.3299A>T (p.Asn1100Ile)
n.258A>T
12g.51769230C>ACA6571568SCN8Ac.3267C>A (p.Asn1089Lys)
c.1114C>A
c.1331C>A
c.3300C>A (p.Asn1100Lys)
n.259C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769230C=CA2036188502SCN8Ac.3267C= (p.Asn1089=)
c.1114C=
c.1331C=
c.3300C= (p.Asn1100=)
n.259C=
12g.51769230C>GCA384893294SCN8Ac.3267C>G (p.Asn1089Lys)
c.1114C>G
c.1331C>G
c.3300C>G (p.Asn1100Lys)
n.259C>G
12g.51769230C>TCA480061339SCN8Ac.3267C>T (p.Asn1089=)
c.1114C>T
c.1331C>T
c.3300C>T (p.Asn1100=)
n.259C>T
 ClinVar dbSNP
12g.51769231C>ACA384893295SCN8Ac.3268C>A (p.Pro1090Thr)
c.1115C>A
c.1332C>A
c.3301C>A (p.Pro1101Thr)
n.260C>A
 gnomAD v4
12g.51769231C=CA2036188508SCN8Ac.3268C= (p.Pro1090=)
c.1115C=
c.1332C=
c.3301C= (p.Pro1101=)
n.260C=
12g.51769231C>GCA384893296SCN8Ac.3268C>G (p.Pro1090Ala)
c.1115C>G
c.1332C>G
c.3301C>G (p.Pro1101Ala)
n.260C>G
12g.51769231C>TCA384893308SCN8Ac.3268C>T (p.Pro1090Ser)
c.1115C>T
c.1332C>T
c.3301C>T (p.Pro1101Ser)
n.260C>T
 ClinVar dbSNP gnomAD v4
12g.51769232C>ACA384893312SCN8Ac.3269C>A (p.Pro1090His)
c.1116C>A
c.1333C>A
c.3302C>A (p.Pro1101His)
n.261C>A
12g.51769232C=CA2036188514SCN8Ac.3269C= (p.Pro1090=)
c.1116C=
c.1333C=
c.3302C= (p.Pro1101=)
n.261C=
12g.51769232C>GCA384893314SCN8Ac.3269C>G (p.Pro1090Arg)
c.1116C>G
c.1333C>G
c.3302C>G (p.Pro1101Arg)
n.261C>G
12g.51769232C>TCA6571569SCN8Ac.3269C>T (p.Pro1090Leu)
c.1116C>T
c.1333C>T
c.3302C>T (p.Pro1101Leu)
n.261C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51769233C>ACA480061345SCN8Ac.3270C>A (p.Pro1090=)
c.1117C>A
c.1334C>A
c.3303C>A (p.Pro1101=)
n.262C>A
 dbSNP
12g.51769233C=CA2036188518SCN8Ac.3270C= (p.Pro1090=)
c.1117C=
c.1334C=
c.3303C= (p.Pro1101=)
n.262C=
12g.51769233C>GCA480061346SCN8Ac.3270C>G (p.Pro1090=)
c.1117C>G
c.1334C>G
c.3303C>G (p.Pro1101=)
n.262C>G
12g.51769233C>TCA480061348SCN8Ac.3270C>T (p.Pro1090=)
c.1117C>T
c.1334C>T
c.3303C>T (p.Pro1101=)
n.262C>T
12g.51769234A=CA2036188525SCN8Ac.3271A= (p.Asn1091=)
c.1118A=
c.1335A=
c.3304A= (p.Asn1102=)
n.263A=
12g.51769234A>CCA384893320SCN8Ac.3271A>C (p.Asn1091His)
c.1118A>C
c.1335A>C
c.3304A>C (p.Asn1102His)
n.263A>C
12g.51769234A>GCA384893322SCN8Ac.3271A>G (p.Asn1091Asp)
c.1118A>G
c.1335A>G
c.3304A>G (p.Asn1102Asp)
n.263A>G
12g.51769234A>TCA384893318SCN8Ac.3271A>T (p.Asn1091Tyr)
c.1118A>T
c.1335A>T
c.3304A>T (p.Asn1102Tyr)
n.263A>T
 dbSNP gnomAD v2
12g.51769235A=CA2036188534SCN8Ac.3272A= (p.Asn1091=)
c.1119A=
c.1336A=
c.3305A= (p.Asn1102=)
n.264A=
12g.51769235A>CCA6571571SCN8Ac.3272A>C (p.Asn1091Thr)
c.1119A>C
c.1336A>C
c.3305A>C (p.Asn1102Thr)
n.264A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769235A>GCA6571570SCN8Ac.3272A>G (p.Asn1091Ser)
c.1119A>G
c.1336A>G
c.3305A>G (p.Asn1102Ser)
n.264A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769235A>TCA384893329SCN8Ac.3272A>T (p.Asn1091Ile)
c.1119A>T
c.1336A>T
c.3305A>T (p.Asn1102Ile)
n.264A>T
12g.51769236C>ACA384893333SCN8Ac.3273C>A (p.Asn1091Lys)
c.1120C>A
c.1337C>A
c.3306C>A (p.Asn1102Lys)
n.265C>A
12g.51769236C>GCA384893336SCN8Ac.3273C>G (p.Asn1091Lys)
c.1120C>G
c.1337C>G
c.3306C>G (p.Asn1102Lys)
n.265C>G
12g.51769236C>TCA480061350SCN8Ac.3273C>T (p.Asn1091=)
c.1120C>T
c.1337C>T
c.3306C>T (p.Asn1102=)
n.265C>T
12g.51769237T>ACA384893337SCN8Ac.3274T>A (p.Leu1092Met)
c.1121T>A
c.1338T>A
c.3307T>A (p.Leu1103Met)
n.266T>A
 ClinVar dbSNP
12g.51769237T>CCA480061353SCN8Ac.3274T>C (p.Leu1092=)
c.1121T>C
c.1338T>C
c.3307T>C (p.Leu1103=)
n.266T>C
12g.51769237T>GCA384893338SCN8Ac.3274T>G (p.Leu1092Val)
c.1121T>G
c.1338T>G
c.3307T>G (p.Leu1103Val)
n.266T>G
12g.51769237T=CA2036188540SCN8Ac.3274T= (p.Leu1092=)
c.1121T=
c.1338T=
c.3307T= (p.Leu1103=)
n.266T=
12g.51769238T>ACA384893341SCN8Ac.3275T>A (p.Leu1092Ter)
c.1122T>A
c.1339T>A
c.3308T>A (p.Leu1103Ter)
n.267T>A
 dbSNP
12g.51769238T>CCA384893344SCN8Ac.3275T>C (p.Leu1092Ser)
c.1122T>C
c.1339T>C
c.3308T>C (p.Leu1103Ser)
n.267T>C
12g.51769238T>GCA384893346SCN8Ac.3275T>G (p.Leu1092Trp)
c.1122T>G
c.1339T>G
c.3308T>G (p.Leu1103Trp)
n.267T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51769238T=CA2036188545SCN8Ac.3275T= (p.Leu1092=)
c.1122T=
c.1339T=
c.3308T= (p.Leu1103=)
n.267T=
12g.51769239G>ACA480061356SCN8Ac.3276G>A (p.Leu1092=)
c.1123G>A
c.1340G>A
c.3309G>A (p.Leu1103=)
n.268G>A
12g.51769239G>CCA384893349SCN8Ac.3276G>C (p.Leu1092Phe)
c.1123G>C
c.1340G>C
c.3309G>C (p.Leu1103Phe)
n.268G>C
12g.51769239G>TCA384893355SCN8Ac.3276G>T (p.Leu1092Phe)
c.1123G>T
c.1340G>T
c.3309G>T (p.Leu1103Phe)
n.268G>T
12g.51769240A>CCA384893360SCN8Ac.3277A>C (p.Thr1093Pro)
c.1124A>C
c.1341A>C
c.3310A>C (p.Thr1104Pro)
n.269A>C
12g.51769240A>GCA384893361SCN8Ac.3277A>G (p.Thr1093Ala)
c.1124A>G
c.1341A>G
c.3310A>G (p.Thr1104Ala)
n.269A>G
12g.51769240A>TCA384893359SCN8Ac.3277A>T (p.Thr1093Ser)
c.1124A>T
c.1341A>T
c.3310A>T (p.Thr1104Ser)
n.269A>T
12g.51769241C>ACA384893364SCN8Ac.3278C>A (p.Thr1093Asn)
c.1125C>A
c.1342C>A
c.3311C>A (p.Thr1104Asn)
n.270C>A
12g.51769241C>GCA384893368SCN8Ac.3278C>G (p.Thr1093Ser)
c.1125C>G
c.1342C>G
c.3311C>G (p.Thr1104Ser)
n.270C>G
12g.51769241C>TCA384893370SCN8Ac.3278C>T (p.Thr1093Ile)
c.1125C>T
c.1342C>T
c.3311C>T (p.Thr1104Ile)
n.270C>T
12g.51769242T>ACA480061361SCN8Ac.3279T>A (p.Thr1093=)
c.1126T>A
c.1343T>A
c.3312T>A (p.Thr1104=)
n.271T>A
12g.51769242T>CCA480061362SCN8Ac.3279T>C (p.Thr1093=)
c.1126T>C
c.1343T>C
c.3312T>C (p.Thr1104=)
n.271T>C
12g.51769242T>GCA480061363SCN8Ac.3279T>G (p.Thr1093=)
c.1126T>G
c.1343T>G
c.3312T>G (p.Thr1104=)
n.271T>G
12g.51769243G>ACA6571572SCN8Ac.3280G>A (p.Val1094Ile)
c.1127G>A
c.1344G>A
c.3313G>A (p.Val1105Ile)
n.272G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769243G>CCA384893386SCN8Ac.3280G>C (p.Val1094Leu)
c.1127G>C
c.1344G>C
c.3313G>C (p.Val1105Leu)
n.272G>C
12g.51769243G=CA2036188551SCN8Ac.3280G= (p.Val1094=)
c.1127G=
c.1344G=
c.3313G= (p.Val1105=)
n.272G=
12g.51769243G>TCA384893388SCN8Ac.3280G>T (p.Val1094Leu)
c.1127G>T
c.1344G>T
c.3313G>T (p.Val1105Leu)
n.272G>T
12g.51769244T>ACA384893400SCN8Ac.3281T>A (p.Val1094Glu)
c.1128T>A
c.1345T>A
c.3314T>A (p.Val1105Glu)
n.273T>A
12g.51769244T>CCA384893392SCN8Ac.3281T>C (p.Val1094Ala)
c.1128T>C
c.1345T>C
c.3314T>C (p.Val1105Ala)
n.273T>C
12g.51769244T>GCA384893395SCN8Ac.3281T>G (p.Val1094Gly)
c.1128T>G
c.1345T>G
c.3314T>G (p.Val1105Gly)
n.273T>G
12g.51769245A>CCA480061366SCN8Ac.3282A>C (p.Val1094=)
c.1129A>C
c.1346A>C
c.3315A>C (p.Val1105=)
n.274A>C
12g.51769245A>GCA480061368SCN8Ac.3282A>G (p.Val1094=)
c.1129A>G
c.1346A>G
c.3315A>G (p.Val1105=)
n.274A>G
 dbSNP
12g.51769245A>TCA480061370SCN8Ac.3282A>T (p.Val1094=)
c.1129A>T
c.1346A>T
c.3315A>T (p.Val1105=)
n.274A>T
12g.51769246C>ACA480061371SCN8Ac.3283C>A (p.Arg1095=)
c.1130C>A
c.1347C>A
c.3316C>A (p.Arg1106=)
n.275C>A
 gnomAD v3 gnomAD v4
12g.51769246C=CA2036188557SCN8Ac.3283C= (p.Arg1095=)
c.1130C=
c.1347C=
c.3316C= (p.Arg1106=)
n.275C=
12g.51769246C>GCA384893402SCN8Ac.3283C>G (p.Arg1095Gly)
c.1130C>G
c.1347C>G
c.3316C>G (p.Arg1106Gly)
n.275C>G
12g.51769246C>TCA236318634SCN8Ac.3283C>T (p.Arg1095Trp)
c.1130C>T
c.1347C>T
c.3316C>T (p.Arg1106Trp)
n.275C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51769247G>ACA384893406SCN8Ac.3284G>A (p.Arg1095Gln)
c.1131G>A
c.1348G>A
c.3317G>A (p.Arg1106Gln)
n.276G>A
 ClinVar dbSNP
12g.51769247G>CCA384893407SCN8Ac.3284G>C (p.Arg1095Pro)
c.1131G>C
c.1348G>C
c.3317G>C (p.Arg1106Pro)
n.276G>C
12g.51769247G>TCA384893411SCN8Ac.3284G>T (p.Arg1095Leu)
c.1131G>T
c.1348G>T
c.3317G>T (p.Arg1106Leu)
n.276G>T
12g.51769248G>ACA6571573SCN8Ac.3285G>A (p.Arg1095=)
c.1132G>A
c.1349G>A
c.3318G>A (p.Arg1106=)
n.277G>A
 dbSNP ExAC gnomAD v2
12g.51769248G>CCA480061376SCN8Ac.3285G>C (p.Arg1095=)
c.1132G>C
c.1349G>C
c.3318G>C (p.Arg1106=)
n.277G>C
12g.51769248G=CA2036188561SCN8Ac.3285G= (p.Arg1095=)
c.1132G=
c.1349G=
c.3318G= (p.Arg1106=)
n.277G=
12g.51769248G>TCA480061377SCN8Ac.3285G>T (p.Arg1095=)
c.1132G>T
c.1349G>T
c.3318G>T (p.Arg1106=)
n.277G>T
12g.51769249G>ACA384893419SCN8Ac.3286G>A (p.Val1096Ile)
c.1133G>A
c.1350G>A
c.3319G>A (p.Val1107Ile)
n.278G>A
12g.51769249G>CCA384893423SCN8Ac.3286G>C (p.Val1096Leu)
c.1133G>C
c.1350G>C
c.3319G>C (p.Val1107Leu)
n.278G>C
12g.51769249G>TCA384893416SCN8Ac.3286G>T (p.Val1096Leu)
c.1133G>T
c.1350G>T
c.3319G>T (p.Val1107Leu)
n.278G>T
12g.51769250T>ACA384893430SCN8Ac.3287T>A (p.Val1096Glu)
c.1134T>A
c.1351T>A
c.3320T>A (p.Val1107Glu)
n.279T>A
12g.51769250T>CCA384893429SCN8Ac.3287T>C (p.Val1096Ala)
c.1134T>C
c.1351T>C
c.3320T>C (p.Val1107Ala)
n.279T>C
12g.51769250T>GCA384893434SCN8Ac.3287T>G (p.Val1096Gly)
c.1134T>G
c.1351T>G
c.3320T>G (p.Val1107Gly)
n.279T>G
12g.51769251A>CCA480061379SCN8Ac.3288A>C (p.Val1096=)
c.1135A>C
c.1352A>C
c.3321A>C (p.Val1107=)
n.280A>C
12g.51769251A>GCA480061380SCN8Ac.3288A>G (p.Val1096=)
c.1135A>G
c.1352A>G
c.3321A>G (p.Val1107=)
n.280A>G
 ClinVar gnomAD v4
12g.51769251A>TCA480061381SCN8Ac.3288A>T (p.Val1096=)
c.1135A>T
c.1352A>T
c.3321A>T (p.Val1107=)
n.280A>T
12g.51769252C>ACA384893436SCN8Ac.3289C>A (p.Pro1097Thr)
c.1136C>A
c.1353C>A
c.3322C>A (p.Pro1108Thr)
n.281C>A
12g.51769252C>GCA384893437SCN8Ac.3289C>G (p.Pro1097Ala)
c.1136C>G
c.1353C>G
c.3322C>G (p.Pro1108Ala)
n.281C>G
12g.51769252C>TCA384893439SCN8Ac.3289C>T (p.Pro1097Ser)
c.1136C>T
c.1353C>T
c.3322C>T (p.Pro1108Ser)
n.281C>T
12g.51769253C>ACA384893443SCN8Ac.3290C>A (p.Pro1097His)
c.1137C>A
c.1354C>A
c.3323C>A (p.Pro1108His)
n.282C>A
12g.51769253C>GCA384893448SCN8Ac.3290C>G (p.Pro1097Arg)
c.1137C>G
c.1354C>G
c.3323C>G (p.Pro1108Arg)
n.282C>G
12g.51769253C>TCA384893452SCN8Ac.3290C>T (p.Pro1097Leu)
c.1137C>T
c.1354C>T
c.3323C>T (p.Pro1108Leu)
n.282C>T
 gnomAD v4
12g.51769254C>ACA480061382SCN8Ac.3291C>A (p.Pro1097=)
c.1138C>A
c.1355C>A
c.3324C>A (p.Pro1108=)
n.283C>A
12g.51769254C>GCA480061385SCN8Ac.3291C>G (p.Pro1097=)
c.1138C>G
c.1355C>G
c.3324C>G (p.Pro1108=)
n.283C>G
12g.51769254C>TCA480061387SCN8Ac.3291C>T (p.Pro1097=)
c.1138C>T
c.1355C>T
c.3324C>T (p.Pro1108=)
n.283C>T
12g.51769255A=CA2036188564SCN8Ac.3292A= (p.Ile1098=)
c.1139A=
c.1356A=
c.3325A= (p.Ile1109=)
n.284A=
12g.51769255A>CCA384893458SCN8Ac.3292A>C (p.Ile1098Leu)
c.1139A>C
c.1356A>C
c.3325A>C (p.Ile1109Leu)
n.284A>C
12g.51769255A>GCA318260SCN8Ac.3292A>G (p.Ile1098Val)
c.1139A>G
c.1356A>G
c.3325A>G (p.Ile1109Val)
n.284A>G
 dbSNP gnomAD v4
12g.51769255A>TCA384893464SCN8Ac.3292A>T (p.Ile1098Phe)
c.1139A>T
c.1356A>T
c.3325A>T (p.Ile1109Phe)
n.284A>T
12g.51769256T>ACA384893466SCN8Ac.3293T>A (p.Ile1098Asn)
c.1140T>A
c.1357T>A
c.3326T>A (p.Ile1109Asn)
n.285T>A
 ClinVar dbSNP
12g.51769256T>CCA384893469SCN8Ac.3293T>C (p.Ile1098Thr)
c.1140T>C
c.1357T>C
c.3326T>C (p.Ile1109Thr)
n.285T>C
 dbSNP gnomAD v2 gnomAD v4
12g.51769256T>GCA384893472SCN8Ac.3293T>G (p.Ile1098Ser)
c.1140T>G
c.1357T>G
c.3326T>G (p.Ile1109Ser)
n.285T>G
12g.51769256T=CA2036188568SCN8Ac.3293T= (p.Ile1098=)
c.1140T=
c.1357T=
c.3326T= (p.Ile1109=)
n.285T=
12g.51769257T>ACA480061395SCN8Ac.3294T>A (p.Ile1098=)
c.1141T>A
c.1358T>A
c.3327T>A (p.Ile1109=)
n.286T>A
12g.51769257T>CCA480061393SCN8Ac.3294T>C (p.Ile1098=)
c.1141T>C
c.1358T>C
c.3327T>C (p.Ile1109=)
n.286T>C
12g.51769257T>GCA384893476SCN8Ac.3294T>G (p.Ile1098Met)
c.1141T>G
c.1358T>G
c.3327T>G (p.Ile1109Met)
n.286T>G
12g.51769258G>ACA384893484SCN8Ac.3295G>A (p.Ala1099Thr)
c.1142G>A
c.1359G>A
c.3328G>A (p.Ala1110Thr)
n.287G>A
 ClinVar dbSNP
12g.51769258G>CCA384893479SCN8Ac.3295G>C (p.Ala1099Pro)
c.1142G>C
c.1359G>C
c.3328G>C (p.Ala1110Pro)
n.287G>C
12g.51769258G=CA2036188571SCN8Ac.3295G= (p.Ala1099=)
c.1142G=
c.1359G=
c.3328G= (p.Ala1110=)
n.287G=
12g.51769258G>TCA384893483SCN8Ac.3295G>T (p.Ala1099Ser)
c.1142G>T
c.1359G>T
c.3328G>T (p.Ala1110Ser)
n.287G>T
12g.51769259C>ACA384893488SCN8Ac.3296C>A (p.Ala1099Asp)
c.1143C>A
c.1360C>A
c.3329C>A (p.Ala1110Asp)
n.288C>A
12g.51769259C>GCA384893495SCN8Ac.3296C>G (p.Ala1099Gly)
c.1143C>G
c.1360C>G
c.3329C>G (p.Ala1110Gly)
n.288C>G
12g.51769259C>TCA384893500SCN8Ac.3296C>T (p.Ala1099Val)
c.1143C>T
c.1360C>T
c.3329C>T (p.Ala1110Val)
n.288C>T
12g.51769260T>ACA480061401SCN8Ac.3297T>A (p.Ala1099=)
c.1144T>A
c.1361T>A
c.3330T>A (p.Ala1110=)
n.289T>A
12g.51769260T>CCA480061400SCN8Ac.3297T>C (p.Ala1099=)
c.1144T>C
c.1361T>C
c.3330T>C (p.Ala1110=)
n.289T>C
12g.51769260T>GCA480061398SCN8Ac.3297T>G (p.Ala1099=)
c.1144T>G
c.1361T>G
c.3330T>G (p.Ala1110=)
n.289T>G
12g.51769261G>ACA6571574SCN8Ac.3298G>A (p.Val1100Met)
c.1145G>A
c.1362G>A
c.3331G>A (p.Val1111Met)
n.290G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769261G>CCA384893505SCN8Ac.3298G>C (p.Val1100Leu)
c.1145G>C
c.1362G>C
c.3331G>C (p.Val1111Leu)
n.290G>C
12g.51769261G=CA2036188574SCN8Ac.3298G= (p.Val1100=)
c.1145G=
c.1362G=
c.3331G= (p.Val1111=)
n.290G=
12g.51769261G>TCA384893508SCN8Ac.3298G>T (p.Val1100Leu)
c.1145G>T
c.1362G>T
c.3331G>T (p.Val1111Leu)
n.290G>T
12g.51769262T>ACA384893509SCN8Ac.3299T>A (p.Val1100Glu)
c.1146T>A
c.1363T>A
c.3332T>A (p.Val1111Glu)
n.291T>A
 dbSNP gnomAD v3 gnomAD v4
12g.51769262T>CCA384893510SCN8Ac.3299T>C (p.Val1100Ala)
c.1146T>C
c.1363T>C
c.3332T>C (p.Val1111Ala)
n.291T>C
12g.51769262T>GCA384893513SCN8Ac.3299T>G (p.Val1100Gly)
c.1146T>G
c.1363T>G
c.3332T>G (p.Val1111Gly)
n.291T>G
12g.51769262T=CA2036188579SCN8Ac.3299T= (p.Val1100=)
c.1146T=
c.1363T=
c.3332T= (p.Val1111=)
n.291T=
12g.51769263G>ACA480061406SCN8Ac.3300G>A (p.Val1100=)
c.1147G>A
c.1364G>A
c.3333G>A (p.Val1111=)
n.292G>A
 ClinVar
12g.51769263G>CCA480061409SCN8Ac.3300G>C (p.Val1100=)
c.1147G>C
c.1364G>C
c.3333G>C (p.Val1111=)
n.292G>C
12g.51769263G>TCA480061408SCN8Ac.3300G>T (p.Val1100=)
c.1147G>T
c.1364G>T
c.3333G>T (p.Val1111=)
n.292G>T
12g.51769264G>ACA236318645SCN8Ac.3301G>A (p.Gly1101Ser)
c.1148G>A
c.1365G>A
c.3334G>A (p.Gly1112Ser)
n.293G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51769264G>CCA384893518SCN8Ac.3301G>C (p.Gly1101Arg)
c.1148G>C
c.1365G>C
c.3334G>C (p.Gly1112Arg)
n.293G>C
12g.51769264G=CA2036188581SCN8Ac.3301G= (p.Gly1101=)
c.1148G=
c.1365G=
c.3334G= (p.Gly1112=)
n.293G=
12g.51769264G>TCA384893519SCN8Ac.3301G>T (p.Gly1101Cys)
c.1148G>T
c.1365G>T
c.3334G>T (p.Gly1112Cys)
n.293G>T
12g.51769265G>ACA384893523SCN8Ac.3302G>A (p.Gly1101Asp)
c.1149G>A
c.1366G>A
c.3335G>A (p.Gly1112Asp)
n.294G>A
 gnomAD v4
12g.51769265G>CCA384893527SCN8Ac.3302G>C (p.Gly1101Ala)
c.1149G>C
c.1366G>C
c.3335G>C (p.Gly1112Ala)
n.294G>C
12g.51769265G>TCA384893524SCN8Ac.3302G>T (p.Gly1101Val)
c.1149G>T
c.1366G>T
c.3335G>T (p.Gly1112Val)
n.294G>T
12g.51769266C>ACA480061411SCN8Ac.3303C>A (p.Gly1101=)
c.1150C>A
c.1367C>A
c.3336C>A (p.Gly1112=)
n.295C>A
12g.51769266C=CA2036188584SCN8Ac.3303C= (p.Gly1101=)
c.1150C=
c.1367C=
c.3336C= (p.Gly1112=)
n.295C=
12g.51769266C>GCA480061412SCN8Ac.3303C>G (p.Gly1101=)
c.1150C>G
c.1367C>G
c.3336C>G (p.Gly1112=)
n.295C>G
12g.51769266C>TCA480061413SCN8Ac.3303C>T (p.Gly1101=)
c.1150C>T
c.1367C>T
c.3336C>T (p.Gly1112=)
n.295C>T
 ClinVar dbSNP
12g.51769267G>ACA384893531SCN8Ac.3304G>A (p.Glu1102Lys)
c.1151G>A
c.1368G>A
c.3337G>A (p.Glu1113Lys)
n.296G>A
12g.51769267G>CCA384893532SCN8Ac.3304G>C (p.Glu1102Gln)
c.1151G>C
c.1368G>C
c.3337G>C (p.Glu1113Gln)
n.296G>C
12g.51769267G=CA2036188588SCN8Ac.3304G= (p.Glu1102=)
c.1151G=
c.1368G=
c.3337G= (p.Glu1113=)
n.296G=
12g.51769267G>TCA384893533SCN8Ac.3304G>T (p.Glu1102Ter)
c.1151G>T
c.1368G>T
c.3337G>T (p.Glu1113Ter)
n.296G>T
 dbSNP
12g.51769268A>CCA384893534SCN8Ac.3305A>C (p.Glu1102Ala)
c.1152A>C
c.1369A>C
c.3338A>C (p.Glu1113Ala)
n.297A>C
12g.51769268A>GCA384893537SCN8Ac.3305A>G (p.Glu1102Gly)
c.1152A>G
c.1369A>G
c.3338A>G (p.Glu1113Gly)
n.297A>G
12g.51769268A>TCA384893540SCN8Ac.3305A>T (p.Glu1102Val)
c.1152A>T
c.1369A>T
c.3338A>T (p.Glu1113Val)
n.297A>T
12g.51769269G>ACA6571575SCN8Ac.3306G>A (p.Glu1102=)
c.1153G>A
c.1370G>A
c.3339G>A (p.Glu1113=)
n.298G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769269G>CCA384893544SCN8Ac.3306G>C (p.Glu1102Asp)
c.1153G>C
c.1370G>C
c.3339G>C (p.Glu1113Asp)
n.298G>C
12g.51769269G=CA2036188591SCN8Ac.3306G= (p.Glu1102=)
c.1153G=
c.1370G=
c.3339G= (p.Glu1113=)
n.298G=
12g.51769269G>TCA384893547SCN8Ac.3306G>T (p.Glu1102Asp)
c.1153G>T
c.1370G>T
c.3339G>T (p.Glu1113Asp)
n.298G>T
12g.51769270T>ACA6571576SCN8Ac.3307T>A (p.Ser1103Thr)
c.1154T>A
c.1371T>A
c.3340T>A (p.Ser1114Thr)
n.299T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769270T>CCA384893552SCN8Ac.3307T>C (p.Ser1103Pro)
c.1154T>C
c.1371T>C
c.3340T>C (p.Ser1114Pro)
n.299T>C
12g.51769270T>GCA384893555SCN8Ac.3307T>G (p.Ser1103Ala)
c.1154T>G
c.1371T>G
c.3340T>G (p.Ser1114Ala)
n.299T>G
12g.51769270T=CA2036188599SCN8Ac.3307T= (p.Ser1103=)
c.1154T=
c.1371T=
c.3340T= (p.Ser1114=)
n.299T=
12g.51769271C>ACA384893574SCN8Ac.3308C>A (p.Ser1103Tyr)
c.1155C>A
c.1372C>A
c.3341C>A (p.Ser1114Tyr)
n.300C>A
12g.51769271C>GCA384893562SCN8Ac.3308C>G (p.Ser1103Cys)
c.1155C>G
c.1372C>G
c.3341C>G (p.Ser1114Cys)
n.300C>G
12g.51769271C>TCA384893572SCN8Ac.3308C>T (p.Ser1103Phe)
c.1155C>T
c.1372C>T
c.3341C>T (p.Ser1114Phe)
n.300C>T
12g.51769272T>ACA480061422SCN8Ac.3309T>A (p.Ser1103=)
c.1156T>A
c.1373T>A
c.3342T>A (p.Ser1114=)
n.301T>A
12g.51769272T>CCA480061424SCN8Ac.3309T>C (p.Ser1103=)
c.1156T>C
c.1373T>C
c.3342T>C (p.Ser1114=)
n.301T>C
12g.51769272T>GCA480061425SCN8Ac.3309T>G (p.Ser1103=)
c.1156T>G
c.1373T>G
c.3342T>G (p.Ser1114=)
n.301T>G
12g.51769273G>ACA384893577SCN8Ac.3310G>A (p.Asp1104Asn)
c.1157G>A
c.1374G>A
c.3343G>A (p.Asp1115Asn)
n.302G>A
12g.51769273G>CCA384893578SCN8Ac.3310G>C (p.Asp1104His)
c.1157G>C
c.1374G>C
c.3343G>C (p.Asp1115His)
n.302G>C
12g.51769273G>TCA384893580SCN8Ac.3310G>T (p.Asp1104Tyr)
c.1157G>T
c.1374G>T
c.3343G>T (p.Asp1115Tyr)
n.302G>T
12g.51769274A>CCA384893583SCN8Ac.3311A>C (p.Asp1104Ala)
c.1158A>C
c.1375A>C
c.3344A>C (p.Asp1115Ala)
n.303A>C
12g.51769274A>GCA384893589SCN8Ac.3311A>G (p.Asp1104Gly)
c.1158A>G
c.1375A>G
c.3344A>G (p.Asp1115Gly)
n.303A>G
 gnomAD v4
12g.51769274A>TCA384893591SCN8Ac.3311A>T (p.Asp1104Val)
c.1158A>T
c.1375A>T
c.3344A>T (p.Asp1115Val)
n.303A>T
12g.51769275C>ACA384893594SCN8Ac.3312C>A (p.Asp1104Glu)
c.1159C>A
c.1376C>A
c.3345C>A (p.Asp1115Glu)
n.304C>A
12g.51769275C>GCA384893601SCN8Ac.3312C>G (p.Asp1104Glu)
c.1159C>G
c.1376C>G
c.3345C>G (p.Asp1115Glu)
n.304C>G
12g.51769275C>TCA480061429SCN8Ac.3312C>T (p.Asp1104=)
c.1159C>T
c.1376C>T
c.3345C>T (p.Asp1115=)
n.304C>T
 gnomAD v4
12g.51769276T>ACA384893605SCN8Ac.3313T>A (p.Phe1105Ile)
c.1160T>A
c.1377T>A
c.3346T>A (p.Phe1116Ile)
n.305T>A
12g.51769276T>CCA384893607SCN8Ac.3313T>C (p.Phe1105Leu)
c.1160T>C
c.1377T>C
c.3346T>C (p.Phe1116Leu)
n.305T>C
12g.51769276T>GCA384893609SCN8Ac.3313T>G (p.Phe1105Val)
c.1160T>G
c.1377T>G
c.3346T>G (p.Phe1116Val)
n.305T>G
12g.51769277T>ACA384893610SCN8Ac.3314T>A (p.Phe1105Tyr)
c.1161T>A
c.1378T>A
c.3347T>A (p.Phe1116Tyr)
n.306T>A
12g.51769277T>CCA384893611SCN8Ac.3314T>C (p.Phe1105Ser)
c.1161T>C
c.1378T>C
c.3347T>C (p.Phe1116Ser)
n.306T>C
12g.51769277T>GCA236318650SCN8Ac.3314T>G (p.Phe1105Cys)
c.1161T>G
c.1378T>G
c.3347T>G (p.Phe1116Cys)
n.306T>G
 dbSNP
12g.51769277T=CA2036188607SCN8Ac.3314T= (p.Phe1105=)
c.1161T=
c.1378T=
c.3347T= (p.Phe1116=)
n.306T=
12g.51769278T>ACA384893616SCN8Ac.3315T>A (p.Phe1105Leu)
c.1162T>A
c.1379T>A
c.3348T>A (p.Phe1116Leu)
n.307T>A
12g.51769278T>CCA480061433SCN8Ac.3315T>C (p.Phe1105=)
c.1162T>C
c.1379T>C
c.3348T>C (p.Phe1116=)
n.307T>C
12g.51769278T>GCA384893612SCN8Ac.3315T>G (p.Phe1105Leu)
c.1162T>G
c.1379T>G
c.3348T>G (p.Phe1116Leu)
n.307T>G
12g.51769279G>ACA384893619SCN8Ac.3316G>A (p.Glu1106Lys)
c.1163G>A
c.1380G>A
c.3349G>A (p.Glu1117Lys)
n.308G>A
12g.51769279G>CCA384893620SCN8Ac.3316G>C (p.Glu1106Gln)
c.1163G>C
c.1380G>C
c.3349G>C (p.Glu1117Gln)
n.308G>C
12g.51769279G>TCA384893621SCN8Ac.3316G>T (p.Glu1106Ter)
c.1163G>T
c.1380G>T
c.3349G>T (p.Glu1117Ter)
n.308G>T
12g.51769280A>CCA384893623SCN8Ac.3317A>C (p.Glu1106Ala)
c.1164A>C
c.1381A>C
c.3350A>C (p.Glu1117Ala)
n.309A>C
 ClinVar dbSNP
12g.51769280A>GCA384893625SCN8Ac.3317A>G (p.Glu1106Gly)
c.1164A>G
c.1381A>G
c.3350A>G (p.Glu1117Gly)
n.309A>G
12g.51769280A>TCA384893627SCN8Ac.3317A>T (p.Glu1106Val)
c.1164A>T
c.1381A>T
c.3350A>T (p.Glu1117Val)
n.309A>T

Number of alleles fetched