Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
12g.51769281G>ACA480061437SCN8Ac.3318G>A (p.Glu1106=)
c.1165G>A
c.1382G>A
c.3351G>A (p.Glu1117=)
n.310G>A
12g.51769281G>CCA384893630SCN8Ac.3318G>C (p.Glu1106Asp)
c.1165G>C
c.1382G>C
c.3351G>C (p.Glu1117Asp)
n.310G>C
 COSMIC COSMIC
12g.51769281G>TCA384893631SCN8Ac.3318G>T (p.Glu1106Asp)
c.1165G>T
c.1382G>T
c.3351G>T (p.Glu1117Asp)
n.310G>T
12g.51769282A=CA2036188612SCN8Ac.3319A= (p.Asn1107=)
c.1166A=
c.1383A=
c.3352A= (p.Asn1118=)
n.311A=
12g.51769282A>CCA384893632SCN8Ac.3319A>C (p.Asn1107His)
c.1166A>C
c.1383A>C
c.3352A>C (p.Asn1118His)
n.311A>C
 ClinVar dbSNP
12g.51769282A>GCA384893633SCN8Ac.3319A>G (p.Asn1107Asp)
c.1166A>G
c.1383A>G
c.3352A>G (p.Asn1118Asp)
n.311A>G
12g.51769282A>TCA384893634SCN8Ac.3319A>T (p.Asn1107Tyr)
c.1166A>T
c.1383A>T
c.3352A>T (p.Asn1118Tyr)
n.311A>T
12g.51769283A=CA2036188619SCN8Ac.3320A= (p.Asn1107=)
c.1167A=
c.1384A=
c.3353A= (p.Asn1118=)
n.312A=
12g.51769283A>CCA384893637SCN8Ac.3320A>C (p.Asn1107Thr)
c.1167A>C
c.1384A>C
c.3353A>C (p.Asn1118Thr)
n.312A>C
 dbSNP gnomAD v4
12g.51769283A>GCA384893635SCN8Ac.3320A>G (p.Asn1107Ser)
c.1167A>G
c.1384A>G
c.3353A>G (p.Asn1118Ser)
n.312A>G
 dbSNP
12g.51769283A>TCA384893636SCN8Ac.3320A>T (p.Asn1107Ile)
c.1167A>T
c.1384A>T
c.3353A>T (p.Asn1118Ile)
n.312A>T
12g.51769284C>ACA384893642SCN8Ac.3321C>A (p.Asn1107Lys)
c.1168C>A
c.1385C>A
c.3354C>A (p.Asn1118Lys)
n.313C>A
12g.51769284C=CA2036188626SCN8Ac.3321C= (p.Asn1107=)
c.1168C=
c.1385C=
c.3354C= (p.Asn1118=)
n.313C=
12g.51769284C>GCA384893646SCN8Ac.3321C>G (p.Asn1107Lys)
c.1168C>G
c.1385C>G
c.3354C>G (p.Asn1118Lys)
n.313C>G
12g.51769284C>TCA6571577SCN8Ac.3321C>T (p.Asn1107=)
c.1168C>T
c.1385C>T
c.3354C>T (p.Asn1118=)
n.313C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769285C>ACA384893656SCN8Ac.3322C>A (p.Leu1108Ile)
c.1169C>A
c.1386C>A
c.3355C>A (p.Leu1119Ile)
n.314C>A
12g.51769285C>GCA384893657SCN8Ac.3322C>G (p.Leu1108Val)
c.1169C>G
c.1386C>G
c.3355C>G (p.Leu1119Val)
n.314C>G
 gnomAD v4
12g.51769285C>TCA384893658SCN8Ac.3322C>T (p.Leu1108Phe)
c.1169C>T
c.1386C>T
c.3355C>T (p.Leu1119Phe)
n.314C>T
12g.51769286T>ACA384893659SCN8Ac.3323T>A (p.Leu1108His)
c.1170T>A
c.1387T>A
c.3356T>A (p.Leu1119His)
n.315T>A
12g.51769286T>CCA384893662SCN8Ac.3323T>C (p.Leu1108Pro)
c.1170T>C
c.1387T>C
c.3356T>C (p.Leu1119Pro)
n.315T>C
12g.51769286T>GCA384893663SCN8Ac.3323T>G (p.Leu1108Arg)
c.1170T>G
c.1387T>G
c.3356T>G (p.Leu1119Arg)
n.315T>G
12g.51769287C>ACA480061445SCN8Ac.3324C>A (p.Leu1108=)
c.1171C>A
c.1388C>A
c.3357C>A (p.Leu1119=)
n.316C>A
12g.51769287C>GCA480061446SCN8Ac.3324C>G (p.Leu1108=)
c.1171C>G
c.1388C>G
c.3357C>G (p.Leu1119=)
n.316C>G
12g.51769287C>TCA480061448SCN8Ac.3324C>T (p.Leu1108=)
c.1171C>T
c.1388C>T
c.3357C>T (p.Leu1119=)
n.316C>T
 gnomAD v4
12g.51769288A=CA2036188630SCN8Ac.3325A= (p.Asn1109=)
c.1172A=
c.1389A=
c.3358A= (p.Asn1120=)
n.317A=
12g.51769288A>CCA384893664SCN8Ac.3325A>C (p.Asn1109His)
c.1172A>C
c.1389A>C
c.3358A>C (p.Asn1120His)
n.317A>C
 dbSNP
12g.51769288A>GCA384893665SCN8Ac.3325A>G (p.Asn1109Asp)
c.1172A>G
c.1389A>G
c.3358A>G (p.Asn1120Asp)
n.317A>G
12g.51769288A>TCA384893672SCN8Ac.3325A>T (p.Asn1109Tyr)
c.1172A>T
c.1389A>T
c.3358A>T (p.Asn1120Tyr)
n.317A>T
12g.51769289A>CCA384893682SCN8Ac.3326A>C (p.Asn1109Thr)
c.1173A>C
c.1390A>C
c.3359A>C (p.Asn1120Thr)
n.318A>C
12g.51769289A>GCA384893684SCN8Ac.3326A>G (p.Asn1109Ser)
c.1173A>G
c.1390A>G
c.3359A>G (p.Asn1120Ser)
n.318A>G
12g.51769289A>TCA384893676SCN8Ac.3326A>T (p.Asn1109Ile)
c.1173A>T
c.1390A>T
c.3359A>T (p.Asn1120Ile)
n.318A>T
12g.51769290C>ACA384893685SCN8Ac.3327C>A (p.Asn1109Lys)
c.1174C>A
c.1391C>A
c.3360C>A (p.Asn1120Lys)
n.319C>A
12g.51769290C=CA2036188635SCN8Ac.3327C= (p.Asn1109=)
c.1174C=
c.1391C=
c.3360C= (p.Asn1120=)
n.319C=
12g.51769290C>GCA384893686SCN8Ac.3327C>G (p.Asn1109Lys)
c.1174C>G
c.1391C>G
c.3360C>G (p.Asn1120Lys)
n.319C>G
 ClinVar
12g.51769290C>TCA480061450SCN8Ac.3327C>T (p.Asn1109=)
c.1174C>T
c.1391C>T
c.3360C>T (p.Asn1120=)
n.319C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51769291A>CCA384893689SCN8Ac.3328A>C (p.Thr1110Pro)
c.1175A>C
c.1392A>C
c.3361A>C (p.Thr1121Pro)
n.320A>C
12g.51769291A>GCA384893692SCN8Ac.3328A>G (p.Thr1110Ala)
c.1175A>G
c.1392A>G
c.3361A>G (p.Thr1121Ala)
n.320A>G
 gnomAD v4
12g.51769291A>TCA384893695SCN8Ac.3328A>T (p.Thr1110Ser)
c.1175A>T
c.1392A>T
c.3361A>T (p.Thr1121Ser)
n.320A>T
12g.51769292C>ACA384893704SCN8Ac.3329C>A (p.Thr1110Lys)
c.1176C>A
c.1393C>A
c.3362C>A (p.Thr1121Lys)
n.321C>A
12g.51769292C>GCA384893707SCN8Ac.3329C>G (p.Thr1110Arg)
c.1176C>G
c.1393C>G
c.3362C>G (p.Thr1121Arg)
n.321C>G
12g.51769292C>TCA384893711SCN8Ac.3329C>T (p.Thr1110Ile)
c.1176C>T
c.1393C>T
c.3362C>T (p.Thr1121Ile)
n.321C>T
12g.51769293A>CCA480061452SCN8Ac.3330A>C (p.Thr1110=)
c.1177A>C
c.1394A>C
c.3363A>C (p.Thr1121=)
n.322A>C
12g.51769293A>GCA480061453SCN8Ac.3330A>G (p.Thr1110=)
c.1177A>G
c.1394A>G
c.3363A>G (p.Thr1121=)
n.322A>G
 ClinVar gnomAD v4
12g.51769293A>TCA480061454SCN8Ac.3330A>T (p.Thr1110=)
c.1177A>T
c.1394A>T
c.3363A>T (p.Thr1121=)
n.322A>T
12g.51769294G>ACA384893714SCN8Ac.3331G>A (p.Glu1111Lys)
c.1178G>A
c.1395G>A
c.3364G>A (p.Glu1122Lys)
n.323G>A
12g.51769294G>CCA384893718SCN8Ac.3331G>C (p.Glu1111Gln)
c.1178G>C
c.1395G>C
c.3364G>C (p.Glu1122Gln)
n.323G>C
 ClinVar
12g.51769294G=CA2036188637SCN8Ac.3331G= (p.Glu1111=)
c.1178G=
c.1395G=
c.3364G= (p.Glu1122=)
n.323G=
12g.51769294G>TCA384893720SCN8Ac.3331G>T (p.Glu1111Ter)
c.1178G>T
c.1395G>T
c.3364G>T (p.Glu1122Ter)
n.323G>T
 dbSNP
12g.51769295A>CCA384893724SCN8Ac.3332A>C (p.Glu1111Ala)
c.1179A>C
c.1396A>C
c.3365A>C (p.Glu1122Ala)
n.324A>C
12g.51769295A>GCA384893725SCN8Ac.3332A>G (p.Glu1111Gly)
c.1179A>G
c.1396A>G
c.3365A>G (p.Glu1122Gly)
n.324A>G
12g.51769295A>TCA384893726SCN8Ac.3332A>T (p.Glu1111Val)
c.1179A>T
c.1396A>T
c.3365A>T (p.Glu1122Val)
n.324A>T
12g.51769296G>ACA480061455SCN8Ac.3333G>A (p.Glu1111=)
c.1180G>A
c.1397G>A
c.3366G>A (p.Glu1122=)
n.325G>A
12g.51769296G>CCA384893728SCN8Ac.3333G>C (p.Glu1111Asp)
c.1180G>C
c.1397G>C
c.3366G>C (p.Glu1122Asp)
n.325G>C
 dbSNP gnomAD v3 gnomAD v4
12g.51769296G=CA2036188640SCN8Ac.3333G= (p.Glu1111=)
c.1180G=
c.1397G=
c.3366G= (p.Glu1122=)
n.325G=
12g.51769296G>TCA384893730SCN8Ac.3333G>T (p.Glu1111Asp)
c.1180G>T
c.1397G>T
c.3366G>T (p.Glu1122Asp)
n.325G>T
12g.51769297G>ACA384893734SCN8Ac.3334G>A (p.Asp1112Asn)
c.1181G>A
c.1398G>A
c.3367G>A (p.Asp1123Asn)
n.326G>A
12g.51769297G>CCA384893742SCN8Ac.3334G>C (p.Asp1112His)
c.1181G>C
c.1398G>C
c.3367G>C (p.Asp1123His)
n.326G>C
12g.51769297G>TCA384893743SCN8Ac.3334G>T (p.Asp1112Tyr)
c.1181G>T
c.1398G>T
c.3367G>T (p.Asp1123Tyr)
n.326G>T
12g.51769298A=CA2036188644SCN8Ac.3335A= (p.Asp1112=)
c.1182A=
c.1399A=
c.3368A= (p.Asp1123=)
n.327A=
12g.51769298A>CCA384893746SCN8Ac.3335A>C (p.Asp1112Ala)
c.1182A>C
c.1399A>C
c.3368A>C (p.Asp1123Ala)
n.327A>C
12g.51769298A>GCA6571578SCN8Ac.3335A>G (p.Asp1112Gly)
c.1182A>G
c.1399A>G
c.3368A>G (p.Asp1123Gly)
n.327A>G
 dbSNP ExAC gnomAD v2
12g.51769298A>TCA384893751SCN8Ac.3335A>T (p.Asp1112Val)
c.1182A>T
c.1399A>T
c.3368A>T (p.Asp1123Val)
n.327A>T
12g.51769299T>ACA384893758SCN8Ac.3336T>A (p.Asp1112Glu)
c.1183T>A
c.1400T>A
c.3369T>A (p.Asp1123Glu)
n.328T>A
 ClinVar dbSNP gnomAD v4
12g.51769299T>CCA480061457SCN8Ac.3336T>C (p.Asp1112=)
c.1183T>C
c.1400T>C
c.3369T>C (p.Asp1123=)
n.328T>C
12g.51769299T>GCA384893760SCN8Ac.3336T>G (p.Asp1112Glu)
c.1183T>G
c.1400T>G
c.3369T>G (p.Asp1123Glu)
n.328T>G
12g.51769299T=CA2036188650SCN8Ac.3336T= (p.Asp1112=)
c.1183T=
c.1400T=
c.3369T= (p.Asp1123=)
n.328T=
12g.51769300G>ACA384893764SCN8Ac.3337G>A (p.Val1113Ile)
c.1184G>A
c.1401G>A
c.3370G>A (p.Val1124Ile)
n.329G>A
12g.51769300G>CCA384893766SCN8Ac.3337G>C (p.Val1113Leu)
c.1184G>C
c.1401G>C
c.3370G>C (p.Val1124Leu)
n.329G>C
12g.51769300G>TCA384893771SCN8Ac.3337G>T (p.Val1113Phe)
c.1184G>T
c.1401G>T
c.3370G>T (p.Val1124Phe)
n.329G>T
12g.51769301T>ACA384893776SCN8Ac.3338T>A (p.Val1113Asp)
c.1185T>A
c.1402T>A
c.3371T>A (p.Val1124Asp)
n.330T>A
12g.51769301T>CCA384893783SCN8Ac.3338T>C (p.Val1113Ala)
c.1185T>C
c.1402T>C
c.3371T>C (p.Val1124Ala)
n.330T>C
12g.51769301T>GCA384893786SCN8Ac.3338T>G (p.Val1113Gly)
c.1185T>G
c.1402T>G
c.3371T>G (p.Val1124Gly)
n.330T>G
12g.51769302T>ACA480061462SCN8Ac.3339T>A (p.Val1113=)
c.1186T>A
c.1403T>A
c.3372T>A (p.Val1124=)
n.331T>A
12g.51769302T>CCA480061463SCN8Ac.3339T>C (p.Val1113=)
c.1186T>C
c.1403T>C
c.3372T>C (p.Val1124=)
n.331T>C
 ClinVar dbSNP
12g.51769302T>GCA480061464SCN8Ac.3339T>G (p.Val1113=)
c.1186T>G
c.1403T>G
c.3372T>G (p.Val1124=)
n.331T>G
12g.51769303A>CCA384893795SCN8Ac.3340A>C (p.Ser1114Arg)
c.1187A>C
c.1404A>C
c.3373A>C (p.Ser1125Arg)
n.332A>C
12g.51769303A>GCA384893798SCN8Ac.3340A>G (p.Ser1114Gly)
c.1187A>G
c.1404A>G
c.3373A>G (p.Ser1125Gly)
n.332A>G
12g.51769303A>TCA384893790SCN8Ac.3340A>T (p.Ser1114Cys)
c.1187A>T
c.1404A>T
c.3373A>T (p.Ser1125Cys)
n.332A>T
12g.51769306_51769308delCA2575160198SCN8Ac.3343_3345del (p.Ser1115del)
c.1190_1192del
c.1407_1409del
c.3376_3378del (p.Ser1126del)
n.335_337del
12g.51769304G>ACA384893806SCN8Ac.3341G>A (p.Ser1114Asn)
c.1188G>A
c.1405G>A
c.3374G>A (p.Ser1125Asn)
n.333G>A
12g.51769304G>CCA384893801SCN8Ac.3341G>C (p.Ser1114Thr)
c.1188G>C
c.1405G>C
c.3374G>C (p.Ser1125Thr)
n.333G>C
12g.51769304G>TCA384893807SCN8Ac.3341G>T (p.Ser1114Ile)
c.1188G>T
c.1405G>T
c.3374G>T (p.Ser1125Ile)
n.333G>T
12g.51769305C>ACA384893811SCN8Ac.3342C>A (p.Ser1114Arg)
c.1189C>A
c.1406C>A
c.3375C>A (p.Ser1125Arg)
n.334C>A
12g.51769305C>GCA384893827SCN8Ac.3342C>G (p.Ser1114Arg)
c.1189C>G
c.1406C>G
c.3375C>G (p.Ser1125Arg)
n.334C>G
12g.51769305C>TCA480061471SCN8Ac.3342C>T (p.Ser1114=)
c.1189C>T
c.1406C>T
c.3375C>T (p.Ser1125=)
n.334C>T
12g.51769306A=CA2036188656SCN8Ac.3343A= (p.Ser1115=)
c.1190A=
c.1407A=
c.3376A= (p.Ser1126=)
n.335A=
12g.51769306A>CCA384893831SCN8Ac.3343A>C (p.Ser1115Arg)
c.1190A>C
c.1407A>C
c.3376A>C (p.Ser1126Arg)
n.335A>C
12g.51769306A>GCA384893834SCN8Ac.3343A>G (p.Ser1115Gly)
c.1190A>G
c.1407A>G
c.3376A>G (p.Ser1126Gly)
n.335A>G
 dbSNP gnomAD v4
12g.51769306A>TCA384893836SCN8Ac.3343A>T (p.Ser1115Cys)
c.1190A>T
c.1407A>T
c.3376A>T (p.Ser1126Cys)
n.335A>T
12g.51769307G>ACA384893839SCN8Ac.3344G>A (p.Ser1115Asn)
c.1191G>A
c.1408G>A
c.3377G>A (p.Ser1126Asn)
n.336G>A
 gnomAD v4
12g.51769307G>CCA384893840SCN8Ac.3344G>C (p.Ser1115Thr)
c.1191G>C
c.1408G>C
c.3377G>C (p.Ser1126Thr)
n.336G>C
12g.51769307G>TCA384893841SCN8Ac.3344G>T (p.Ser1115Ile)
c.1191G>T
c.1408G>T
c.3377G>T (p.Ser1126Ile)
n.336G>T
12g.51769308C>ACA384893843SCN8Ac.3345C>A (p.Ser1115Arg)
c.1192C>A
c.1409C>A
c.3378C>A (p.Ser1126Arg)
n.337C>A
 gnomAD v4
12g.51769308C=CA2036188666SCN8Ac.3345C= (p.Ser1115=)
c.1192C=
c.1409C=
c.3378C= (p.Ser1126=)
n.337C=
12g.51769308C>GCA384893845SCN8Ac.3345C>G (p.Ser1115Arg)
c.1192C>G
c.1409C>G
c.3378C>G (p.Ser1126Arg)
n.337C>G
12g.51769308C>TCA6571579SCN8Ac.3345C>T (p.Ser1115=)
c.1192C>T
c.1409C>T
c.3378C>T (p.Ser1126=)
n.337C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769309G>ACA384893855SCN8Ac.3346G>A (p.Glu1116Lys)
c.1193G>A
c.1410G>A
c.3379G>A (p.Glu1127Lys)
n.338G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51769309G>CCA384893854SCN8Ac.3346G>C (p.Glu1116Gln)
c.1193G>C
c.1410G>C
c.3379G>C (p.Glu1127Gln)
n.338G>C
 gnomAD v4
12g.51769309G=CA2036188676SCN8Ac.3346G= (p.Glu1116=)
c.1193G=
c.1410G=
c.3379G= (p.Glu1127=)
n.338G=
12g.51769309G>TCA384893853SCN8Ac.3346G>T (p.Glu1116Ter)
c.1193G>T
c.1410G>T
c.3379G>T (p.Glu1127Ter)
n.338G>T
 dbSNP gnomAD v4
12g.51769310A>CCA384893859SCN8Ac.3347A>C (p.Glu1116Ala)
c.1194A>C
c.1411A>C
c.3380A>C (p.Glu1127Ala)
n.339A>C
12g.51769310A>GCA384893864SCN8Ac.3347A>G (p.Glu1116Gly)
c.1194A>G
c.1411A>G
c.3380A>G (p.Glu1127Gly)
n.339A>G
12g.51769310A>TCA384893865SCN8Ac.3347A>T (p.Glu1116Val)
c.1194A>T
c.1411A>T
c.3380A>T (p.Glu1127Val)
n.339A>T
12g.51769311G>ACA480061482SCN8Ac.3348G>A (p.Glu1116=)
c.1195G>A
c.1412G>A
c.3381G>A (p.Glu1127=)
n.340G>A
12g.51769311G>CCA384893873SCN8Ac.3348G>C (p.Glu1116Asp)
c.1195G>C
c.1412G>C
c.3381G>C (p.Glu1127Asp)
n.340G>C
12g.51769311G>TCA384893875SCN8Ac.3348G>T (p.Glu1116Asp)
c.1195G>T
c.1412G>T
c.3381G>T (p.Glu1127Asp)
n.340G>T
12g.51769312T>ACA384893876SCN8Ac.3349T>A (p.Ser1117Thr)
c.1196T>A
c.1413T>A
c.3382T>A (p.Ser1128Thr)
n.341T>A
12g.51769312T>CCA384893879SCN8Ac.3349T>C (p.Ser1117Pro)
c.1196T>C
c.1413T>C
c.3382T>C (p.Ser1128Pro)
n.341T>C
12g.51769312T>GCA384893884SCN8Ac.3349T>G (p.Ser1117Ala)
c.1196T>G
c.1413T>G
c.3382T>G (p.Ser1128Ala)
n.341T>G
12g.51769313C>ACA384893891SCN8Ac.3350C>A (p.Ser1117Ter)
c.1197C>A
c.1414C>A
c.3383C>A (p.Ser1128Ter)
n.342C>A
 dbSNP gnomAD v4
12g.51769313C=CA2036188686SCN8Ac.3350C= (p.Ser1117=)
c.1197C=
c.1414C=
c.3383C= (p.Ser1128=)
n.342C=
12g.51769313C>GCA384893894SCN8Ac.3350C>G (p.Ser1117Trp)
c.1197C>G
c.1414C>G
c.3383C>G (p.Ser1128Trp)
n.342C>G
12g.51769313C>TCA6571580SCN8Ac.3350C>T (p.Ser1117Leu)
c.1197C>T
c.1414C>T
c.3383C>T (p.Ser1128Leu)
n.342C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51769314G>ACA6571581SCN8Ac.3351G>A (p.Ser1117=)
c.1198G>A
c.1415G>A
c.3384G>A (p.Ser1128=)
n.343G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769314G>CCA480061488SCN8Ac.3351G>C (p.Ser1117=)
c.1198G>C
c.1415G>C
c.3384G>C (p.Ser1128=)
n.343G>C
12g.51769314G=CA2036188697SCN8Ac.3351G= (p.Ser1117=)
c.1198G=
c.1415G=
c.3384G= (p.Ser1128=)
n.343G=
12g.51769314G>TCA480061489SCN8Ac.3351G>T (p.Ser1117=)
c.1198G>T
c.1415G>T
c.3384G>T (p.Ser1128=)
n.343G>T
 COSMIC COSMIC
12g.51769315G>ACA384893906SCN8Ac.3352G>A (p.Asp1118Asn)
c.1199G>A
c.1416G>A
c.3385G>A (p.Asp1129Asn)
n.344G>A
12g.51769315G>CCA384893905SCN8Ac.3352G>C (p.Asp1118His)
c.1199G>C
c.1416G>C
c.3385G>C (p.Asp1129His)
n.344G>C
12g.51769315G=CA2036188701SCN8Ac.3352G= (p.Asp1118=)
c.1199G=
c.1416G=
c.3385G= (p.Asp1129=)
n.344G=
12g.51769315G>TCA384893904SCN8Ac.3352G>T (p.Asp1118Tyr)
c.1199G>T
c.1416G>T
c.3385G>T (p.Asp1129Tyr)
n.344G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51769316A>CCA384893908SCN8Ac.3353A>C (p.Asp1118Ala)
c.1200A>C
c.1417A>C
c.3386A>C (p.Asp1129Ala)
n.345A>C
12g.51769316A>GCA384893910SCN8Ac.3353A>G (p.Asp1118Gly)
c.1200A>G
c.1417A>G
c.3386A>G (p.Asp1129Gly)
n.345A>G
12g.51769316A>TCA384893915SCN8Ac.3353A>T (p.Asp1118Val)
c.1200A>T
c.1417A>T
c.3386A>T (p.Asp1129Val)
n.345A>T
12g.51769317T>ACA384893921SCN8Ac.3354T>A (p.Asp1118Glu)
c.1201T>A
c.1418T>A
c.3387T>A (p.Asp1129Glu)
n.346T>A
12g.51769317T>CCA480061492SCN8Ac.3354T>C (p.Asp1118=)
c.1201T>C
c.1418T>C
c.3387T>C (p.Asp1129=)
n.346T>C
12g.51769317T>GCA384893924SCN8Ac.3354T>G (p.Asp1118Glu)
c.1201T>G
c.1418T>G
c.3387T>G (p.Asp1129Glu)
n.346T>G
12g.51769318C>ACA384893933SCN8Ac.3355C>A (p.Pro1119Thr)
c.1202C>A
c.1419C>A
c.3388C>A (p.Pro1130Thr)
n.347C>A
12g.51769318C>GCA384893929SCN8Ac.3355C>G (p.Pro1119Ala)
c.1202C>G
c.1419C>G
c.3388C>G (p.Pro1130Ala)
n.347C>G
12g.51769318C>TCA384893927SCN8Ac.3355C>T (p.Pro1119Ser)
c.1202C>T
c.1419C>T
c.3388C>T (p.Pro1130Ser)
n.347C>T
12g.51769319C>ACA384893934SCN8Ac.3356C>A (p.Pro1119His)
c.1203C>A
c.1420C>A
c.3389C>A (p.Pro1130His)
n.348C>A
12g.51769319C=CA2036188706SCN8Ac.3356C= (p.Pro1119=)
c.1203C=
c.1420C=
c.3389C= (p.Pro1130=)
n.348C=
12g.51769319C>GCA384893936SCN8Ac.3356C>G (p.Pro1119Arg)
c.1203C>G
c.1420C>G
c.3389C>G (p.Pro1130Arg)
n.348C>G
12g.51769319C>TCA318262SCN8Ac.3356C>T (p.Pro1119Leu)
c.1203C>T
c.1420C>T
c.3389C>T (p.Pro1130Leu)
n.348C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769320T>ACA480061497SCN8Ac.3357T>A (p.Pro1119=)
c.1204T>A
c.1421T>A
c.3390T>A (p.Pro1130=)
n.349T>A
12g.51769320T>CCA480061498SCN8Ac.3357T>C (p.Pro1119=)
c.1204T>C
c.1421T>C
c.3390T>C (p.Pro1130=)
n.349T>C
12g.51769320T>GCA480061499SCN8Ac.3357T>G (p.Pro1119=)
c.1204T>G
c.1421T>G
c.3390T>G (p.Pro1130=)
n.349T>G
12g.51769321G>ACA384893940SCN8Ac.3358G>A (p.Glu1120Lys)
c.1205G>A
c.1422G>A
c.3391G>A (p.Glu1131Lys)
n.350G>A
 gnomAD v4
12g.51769321G>CCA384893941SCN8Ac.3358G>C (p.Glu1120Gln)
c.1205G>C
c.1422G>C
c.3391G>C (p.Glu1131Gln)
n.350G>C
12g.51769321G=CA2036188712SCN8Ac.3358G= (p.Glu1120=)
c.1205G=
c.1422G=
c.3391G= (p.Glu1131=)
n.350G=
12g.51769321G>TCA384893942SCN8Ac.3358G>T (p.Glu1120Ter)
c.1205G>T
c.1422G>T
c.3391G>T (p.Glu1131Ter)
n.350G>T
 dbSNP
12g.51769322A>CCA384893943SCN8Ac.3359A>C (p.Glu1120Ala)
c.1206A>C
c.1423A>C
c.3392A>C (p.Glu1131Ala)
n.351A>C
12g.51769322A>GCA384893946SCN8Ac.3359A>G (p.Glu1120Gly)
c.1206A>G
c.1423A>G
c.3392A>G (p.Glu1131Gly)
n.351A>G
12g.51769322A>TCA384893945SCN8Ac.3359A>T (p.Glu1120Val)
c.1206A>T
c.1423A>T
c.3392A>T (p.Glu1131Val)
n.351A>T
12g.51769323A>CCA384893947SCN8Ac.3360A>C (p.Glu1120Asp)
c.1207A>C
c.1424A>C
c.3393A>C (p.Glu1131Asp)
n.352A>C
12g.51769323A>GCA480061504SCN8Ac.3360A>G (p.Glu1120=)
c.1207A>G
c.1424A>G
c.3393A>G (p.Glu1131=)
n.352A>G
12g.51769323A>TCA384893950SCN8Ac.3360A>T (p.Glu1120Asp)
c.1207A>T
c.1424A>T
c.3393A>T (p.Glu1131Asp)
n.352A>T
12g.51769324G>ACA384893957SCN8Ac.3361G>A (p.Gly1121Ser)
c.1208G>A
c.1425G>A
c.3394G>A (p.Gly1132Ser)
n.353G>A
12g.51769324G>CCA384893958SCN8Ac.3361G>C (p.Gly1121Arg)
c.1208G>C
c.1425G>C
c.3394G>C (p.Gly1132Arg)
n.353G>C
12g.51769324G>TCA384893959SCN8Ac.3361G>T (p.Gly1121Cys)
c.1208G>T
c.1425G>T
c.3394G>T (p.Gly1132Cys)
n.353G>T
12g.51769325G>ACA384893962SCN8Ac.3362G>A (p.Gly1121Asp)
c.1209G>A
c.1426G>A
c.3395G>A (p.Gly1132Asp)
n.354G>A
12g.51769325G>CCA384893982SCN8Ac.3362G>C (p.Gly1121Ala)
c.1209G>C
c.1426G>C
c.3395G>C (p.Gly1132Ala)
n.354G>C
12g.51769325G>TCA384893985SCN8Ac.3362G>T (p.Gly1121Val)
c.1209G>T
c.1426G>T
c.3395G>T (p.Gly1132Val)
n.354G>T
12g.51769326C>ACA480061510SCN8Ac.3363C>A (p.Gly1121=)
c.1210C>A
c.1427C>A
c.3396C>A (p.Gly1132=)
n.355C>A
 gnomAD v4
12g.51769326C>GCA480061508SCN8Ac.3363C>G (p.Gly1121=)
c.1210C>G
c.1427C>G
c.3396C>G (p.Gly1132=)
n.355C>G
12g.51769326C>TCA480061509SCN8Ac.3363C>T (p.Gly1121=)
c.1210C>T
c.1427C>T
c.3396C>T (p.Gly1132=)
n.355C>T
 gnomAD v4
12g.51769327A=CA2036188718SCN8Ac.3364A= (p.Ser1122=)
c.1211A=
c.1428A=
c.3397A= (p.Ser1133=)
n.356A=
12g.51769327A>CCA384893989SCN8Ac.3364A>C (p.Ser1122Arg)
c.1211A>C
c.1428A>C
c.3397A>C (p.Ser1133Arg)
n.356A>C
12g.51769327A>GCA384893991SCN8Ac.3364A>G (p.Ser1122Gly)
c.1211A>G
c.1428A>G
c.3397A>G (p.Ser1133Gly)
n.356A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51769327A>TCA6571582SCN8Ac.3364A>T (p.Ser1122Cys)
c.1211A>T
c.1428A>T
c.3397A>T (p.Ser1133Cys)
n.356A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769328G>ACA384894000SCN8Ac.3365G>A (p.Ser1122Asn)
c.1212G>A
c.1429G>A
c.3398G>A (p.Ser1133Asn)
n.357G>A
 gnomAD v4
12g.51769328G>CCA384894005SCN8Ac.3365G>C (p.Ser1122Thr)
c.1212G>C
c.1429G>C
c.3398G>C (p.Ser1133Thr)
n.357G>C
12g.51769328G>TCA384893998SCN8Ac.3365G>T (p.Ser1122Ile)
c.1212G>T
c.1429G>T
c.3398G>T (p.Ser1133Ile)
n.357G>T
12g.51769329C>ACA384894016SCN8Ac.3366C>A (p.Ser1122Arg)
c.1213C>A
c.1430C>A
c.3399C>A (p.Ser1133Arg)
n.358C>A
12g.51769329C=CA2036188725SCN8Ac.3366C= (p.Ser1122=)
c.1213C=
c.1430C=
c.3399C= (p.Ser1133=)
n.358C=
12g.51769329C>GCA384894008SCN8Ac.3366C>G (p.Ser1122Arg)
c.1213C>G
c.1430C>G
c.3399C>G (p.Ser1133Arg)
n.358C>G
12g.51769329C>TCA6571583SCN8Ac.3366C>T (p.Ser1122=)
c.1213C>T
c.1430C>T
c.3399C>T (p.Ser1133=)
n.358C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769330A=CA2036188728SCN8Ac.3367A= (p.Lys1123=)
c.1214A=
c.1431A=
c.3400A= (p.Lys1134=)
n.359A=
12g.51769330A>CCA384894017SCN8Ac.3367A>C (p.Lys1123Gln)
c.1214A>C
c.1431A>C
c.3400A>C (p.Lys1134Gln)
n.359A>C
 ClinVar dbSNP
12g.51769330A>GCA384894018SCN8Ac.3367A>G (p.Lys1123Glu)
c.1214A>G
c.1431A>G
c.3400A>G (p.Lys1134Glu)
n.359A>G
 gnomAD v4
12g.51769330A>TCA384894019SCN8Ac.3367A>T (p.Lys1123Ter)
c.1214A>T
c.1431A>T
c.3400A>T (p.Lys1134Ter)
n.359A>T
 dbSNP
12g.51769331A=CA2036188734SCN8Ac.3368A= (p.Lys1123=)
c.1215A=
c.1432A=
c.3401A= (p.Lys1134=)
n.360A=
12g.51769331A>CCA384894021SCN8Ac.3368A>C (p.Lys1123Thr)
c.1215A>C
c.1432A>C
c.3401A>C (p.Lys1134Thr)
n.360A>C
12g.51769331A>GCA384894023SCN8Ac.3368A>G (p.Lys1123Arg)
c.1215A>G
c.1432A>G
c.3401A>G (p.Lys1134Arg)
n.360A>G
 dbSNP gnomAD v3 gnomAD v4
12g.51769331A>TCA384894025SCN8Ac.3368A>T (p.Lys1123Ile)
c.1215A>T
c.1432A>T
c.3401A>T (p.Lys1134Ile)
n.360A>T
12g.51769332A>CCA384894032SCN8Ac.3369A>C (p.Lys1123Asn)
c.1216A>C
c.1433A>C
c.3402A>C (p.Lys1134Asn)
n.361A>C
12g.51769332A>GCA480061205SCN8Ac.3369A>G (p.Lys1123=)
c.1216A>G
c.1433A>G
c.3402A>G (p.Lys1134=)
n.361A>G
 gnomAD v4
12g.51769332A>TCA384894034SCN8Ac.3369A>T (p.Lys1123Asn)
c.1216A>T
c.1433A>T
c.3402A>T (p.Lys1134Asn)
n.361A>T
 gnomAD v4
12g.51769333G>ACA384894038SCN8Ac.3370G>A (p.Asp1124Asn)
c.1217G>A
c.1434G>A
c.3403G>A (p.Asp1135Asn)
n.362G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51769333G>CCA384894043SCN8Ac.3370G>C (p.Asp1124His)
c.1217G>C
c.1434G>C
c.3403G>C (p.Asp1135His)
n.362G>C
12g.51769333G=CA2036188739SCN8Ac.3370G= (p.Asp1124=)
c.1217G=
c.1434G=
c.3403G= (p.Asp1135=)
n.362G=
12g.51769333G>TCA384894046SCN8Ac.3370G>T (p.Asp1124Tyr)
c.1217G>T
c.1434G>T
c.3403G>T (p.Asp1135Tyr)
n.362G>T
12g.51769334A>CCA384894054SCN8Ac.3371A>C (p.Asp1124Ala)
c.1218A>C
c.1435A>C
c.3404A>C (p.Asp1135Ala)
n.363A>C
12g.51769334A>GCA384894062SCN8Ac.3371A>G (p.Asp1124Gly)
c.1218A>G
c.1435A>G
c.3404A>G (p.Asp1135Gly)
n.363A>G
12g.51769334A>TCA384894051SCN8Ac.3371A>T (p.Asp1124Val)
c.1218A>T
c.1435A>T
c.3404A>T (p.Asp1135Val)
n.363A>T
12g.51769335T>ACA384894065SCN8Ac.3372T>A (p.Asp1124Glu)
c.1219T>A
c.1436T>A
c.3405T>A (p.Asp1135Glu)
n.364T>A
12g.51769335T>CCA480061206SCN8Ac.3372T>C (p.Asp1124=)
c.1219T>C
c.1436T>C
c.3405T>C (p.Asp1135=)
n.364T>C
12g.51769335T>GCA6571584SCN8Ac.3372T>G (p.Asp1124Glu)
c.1219T>G
c.1436T>G
c.3405T>G (p.Asp1135Glu)
n.364T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769335T=CA2036188742SCN8Ac.3372T= (p.Asp1124=)
c.1219T=
c.1436T=
c.3405T= (p.Asp1135=)
n.364T=
12g.51769336G>ACA384894077SCN8Ac.3372+1G>A (n.3372+1G>A)
c.1219+1G>A
c.1436+1G>A
c.3405+1G>A (n.3405+1G>A)
n.364+1G>A
12g.51769336G>CCA384894081SCN8Ac.3372+1G>C (n.3372+1G>C)
c.1219+1G>C
c.1436+1G>C
c.3405+1G>C (n.3405+1G>C)
n.364+1G>C
12g.51769336G>TCA384894084SCN8Ac.3372+1G>T (n.3372+1G>T)
c.1219+1G>T
c.1436+1G>T
c.3405+1G>T (n.3405+1G>T)
n.364+1G>T
12g.51769337T>ACA384894091SCN8Ac.3372+2T>A (n.3372+2T>A)
c.1219+2T>A
c.1436+2T>A
c.3405+2T>A (n.3405+2T>A)
n.364+2T>A
12g.51769337T>CCA384894087SCN8Ac.3372+2T>C (n.3372+2T>C)
c.1219+2T>C
c.1436+2T>C
c.3405+2T>C (n.3405+2T>C)
n.364+2T>C
12g.51769337T>GCA384894090SCN8Ac.3372+2T>G (n.3372+2T>G)
c.1219+2T>G
c.1436+2T>G
c.3405+2T>G (n.3405+2T>G)
n.364+2T>G
12g.51769339A>GCA2618840787SCN8Ac.3372+4A>G (n.3372+4A>G)
c.1219+4A>G
c.1436+4A>G
c.3405+4A>G (n.3405+4A>G)
n.364+4A>G
 gnomAD v4
12g.51769341G=CA2036188746SCN8Ac.3372+6G= (n.3372+6G=)
c.1219+6G=
c.1436+6G=
c.3405+6G= (n.3405+6G=)
n.364+6G=
12g.51769341G>TCA2036188747SCN8Ac.3372+6G>T (n.3372+6G>T)
c.1219+6G>T
c.1436+6G>T
c.3405+6G>T (n.3405+6G>T)
n.364+6G>T
 ClinVar dbSNP gnomAD v4
12g.51769342T>CCA2575160199SCN8Ac.3372+7T>C (n.3372+7T>C)
c.1219+7T>C
c.1436+7T>C
c.3405+7T>C (n.3405+7T>C)
n.364+7T>C
12g.51769343C>GCA2618840788SCN8Ac.3372+8C>G (n.3372+8C>G)
c.1219+8C>G
c.1436+8C>G
c.3405+8C>G (n.3405+8C>G)
n.364+8C>G
 gnomAD v4
12g.51769345delCA2575160200SCN8Ac.3372+10del (n.3372+10del)
c.1219+10del
c.1436+10del
c.3405+10del (n.3405+10del)
n.364+10del
12g.51769344C>ACA2575160201SCN8Ac.3372+9C>A (n.3372+9C>A)
c.1219+9C>A
c.1436+9C>A
c.3405+9C>A (n.3405+9C>A)
n.364+9C>A
 gnomAD v4
12g.51769345C>ACA2575160202SCN8Ac.3372+10C>A (n.3372+10C>A)
c.1219+10C>A
c.1436+10C>A
c.3405+10C>A (n.3405+10C>A)
n.364+10C>A
 gnomAD v4
12g.51769347G>ACA605238552SCN8Ac.3372+12G>A (n.3372+12G>A)
c.1219+12G>A
c.1436+12G>A
c.3405+12G>A (n.3405+12G>A)
n.364+12G>A
 dbSNP gnomAD v2 gnomAD v4
12g.51769347G=CA2036188751SCN8Ac.3372+12G= (n.3372+12G=)
c.1219+12G=
c.1436+12G=
c.3405+12G= (n.3405+12G=)
n.364+12G=
12g.51769347G>TCA2618840791SCN8Ac.3372+12G>T (n.3372+12G>T)
c.1219+12G>T
c.1436+12G>T
c.3405+12G>T (n.3405+12G>T)
n.364+12G>T
 gnomAD v4
12g.51769348C=CA2036188754SCN8Ac.3372+13C= (n.3372+13C=)
c.1219+13C=
c.1436+13C=
c.3405+13C= (n.3405+13C=)
n.364+13C=
12g.51769348C>GCA236318738SCN8Ac.3372+13C>G (n.3372+13C>G)
c.1219+13C>G
c.1436+13C>G
c.3405+13C>G (n.3405+13C>G)
n.364+13C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51769348C>TCA236318736SCN8Ac.3372+13C>T (n.3372+13C>T)
c.1219+13C>T
c.1436+13C>T
c.3405+13C>T (n.3405+13C>T)
n.364+13C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51769349C>ACA2618840800SCN8Ac.3372+14C>A (n.3372+14C>A)
c.1219+14C>A
c.1436+14C>A
c.3405+14C>A (n.3405+14C>A)
n.364+14C>A
 gnomAD v4
12g.51769351A=CA2036188762SCN8Ac.3372+16A= (n.3372+16A=)
c.1219+16A=
c.1436+16A=
c.3405+16A= (n.3405+16A=)
n.364+16A=
12g.51769351A>GCA6571585SCN8Ac.3372+16A>G (n.3372+16A>G)
c.1219+16A>G
c.1436+16A>G
c.3405+16A>G (n.3405+16A>G)
n.364+16A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769352G>ACA605238553SCN8Ac.3372+17G>A (n.3372+17G>A)
c.1219+17G>A
c.1436+17G>A
c.3405+17G>A (n.3405+17G>A)
n.364+17G>A
 dbSNP gnomAD v2 gnomAD v4
12g.51769352G>CCA2618840804SCN8Ac.3372+17G>C (n.3372+17G>C)
c.1219+17G>C
c.1436+17G>C
c.3405+17G>C (n.3405+17G>C)
n.364+17G>C
 gnomAD v4
12g.51769352G=CA2036188766SCN8Ac.3372+17G= (n.3372+17G=)
c.1219+17G=
c.1436+17G=
c.3405+17G= (n.3405+17G=)
n.364+17G=
12g.51769356C>ACA2618840809SCN8Ac.3372+21C>A (n.3372+21C>A)
c.1219+21C>A
c.1436+21C>A
c.3405+21C>A (n.3405+21C>A)
n.364+21C>A
 gnomAD v4
12g.51769356C=CA2036188769SCN8Ac.3372+21C= (n.3372+21C=)
c.1219+21C=
c.1436+21C=
c.3405+21C= (n.3405+21C=)
n.364+21C=
12g.51769356C>TCA947682204SCN8Ac.3372+21C>T (n.3372+21C>T)
c.1219+21C>T
c.1436+21C>T
c.3405+21C>T (n.3405+21C>T)
n.364+21C>T
 dbSNP gnomAD v3 gnomAD v4
12g.51769357A>GCA2618840814SCN8Ac.3372+22A>G (n.3372+22A>G)
c.1219+22A>G
c.1436+22A>G
c.3405+22A>G (n.3405+22A>G)
n.364+22A>G
 gnomAD v4
12g.51769358G>ACA2618840816SCN8Ac.3372+23G>A (n.3372+23G>A)
c.1219+23G>A
c.1436+23G>A
c.3405+23G>A (n.3405+23G>A)
n.364+23G>A
 gnomAD v4
12g.51769358G>TCA2618840817SCN8Ac.3372+23G>T (n.3372+23G>T)
c.1219+23G>T
c.1436+23G>T
c.3405+23G>T (n.3405+23G>T)
n.364+23G>T
 gnomAD v4
12g.51769359C>ACA2618840824SCN8Ac.3372+24C>A (n.3372+24C>A)
c.1219+24C>A
c.1436+24C>A
c.3405+24C>A (n.3405+24C>A)
n.364+24C>A
 gnomAD v4
12g.51769359C=CA2036188771SCN8Ac.3372+24C= (n.3372+24C=)
c.1219+24C=
c.1436+24C=
c.3405+24C= (n.3405+24C=)
n.364+24C=
12g.51769359C>TCA6571586SCN8Ac.3372+24C>T (n.3372+24C>T)
c.1219+24C>T
c.1436+24C>T
c.3405+24C>T (n.3405+24C>T)
n.364+24C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769360C>ACA2618840831SCN8Ac.3372+25C>A (n.3372+25C>A)
c.1219+25C>A
c.1436+25C>A
c.3405+25C>A (n.3405+25C>A)
n.364+25C>A
 gnomAD v4
12g.51769360C=CA2036188775SCN8Ac.3372+25C= (n.3372+25C=)
c.1219+25C=
c.1436+25C=
c.3405+25C= (n.3405+25C=)
n.364+25C=
12g.51769360C>GCA6571587SCN8Ac.3372+25C>G (n.3372+25C>G)
c.1219+25C>G
c.1436+25C>G
c.3405+25C>G (n.3405+25C>G)
n.364+25C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769361T>CCA6571588SCN8Ac.3372+26T>C (n.3372+26T>C)
c.1219+26T>C
c.1436+26T>C
c.3405+26T>C (n.3405+26T>C)
n.364+26T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769361T=CA2036188779SCN8Ac.3372+26T= (n.3372+26T=)
c.1219+26T=
c.1436+26T=
c.3405+26T= (n.3405+26T=)
n.364+26T=
12g.51769363delCA2618840835SCN8Ac.3372+28del (n.3372+28del)
c.1219+28del
c.1436+28del
c.3405+28del (n.3405+28del)
n.364+28del
 gnomAD v4
12g.51769364A=CA2036188783SCN8Ac.3372+29A= (n.3372+29A=)
c.1219+29A=
c.1436+29A=
c.3405+29A= (n.3405+29A=)
n.364+29A=
12g.51769364A>GCA605238554SCN8Ac.3372+29A>G (n.3372+29A>G)
c.1219+29A>G
c.1436+29A>G
c.3405+29A>G (n.3405+29A>G)
n.364+29A>G
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched