Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839101T>CCA230627478KCNJ1c.*24A>G (n.*24A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839101T=CA2008286012KCNJ1c.*24A= (n.*24A=)
11g.128839103T>CCA602585798KCNJ1c.*22A>G (n.*22A>G)
dbSNP gnomAD v2 gnomAD v4
11g.128839103T=CA2008286015KCNJ1c.*22A= (n.*22A=)
11g.128839105C=CA2008286017KCNJ1c.*20G= (n.*20G=)
11g.128839105C>GCA602585799KCNJ1c.*20G>C (n.*20G>C)
dbSNP gnomAD v2 gnomAD v4
11g.128839105C>TCA2527789655KCNJ1c.*20G>A (n.*20G>A)
gnomAD v4
11g.128839107C>ACA602585800KCNJ1c.*18G>T (n.*18G>T)
dbSNP gnomAD v2 gnomAD v4
11g.128839107C=CA2008286020KCNJ1c.*18G= (n.*18G=)
11g.128839108C=CA2008286022KCNJ1c.*17G= (n.*17G=)
11g.128839108C>TCA602585801KCNJ1c.*17G>A (n.*17G>A)
dbSNP gnomAD v2 gnomAD v4
11g.128839109C=CA2008286024KCNJ1c.*16G= (n.*16G=)
11g.128839109C>TCA6357371KCNJ1c.*16G>A (n.*16G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839110G>ACA6357372KCNJ1c.*15C>T (n.*15C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839110G=CA2008286029KCNJ1c.*15C= (n.*15C=)
11g.128839110G>TCA477702500KCNJ1c.*15C>A (n.*15C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839113G>TCA2616771370KCNJ1c.*12C>A (n.*12C>A)
gnomAD v4
11g.128839115A>GCA2616771371KCNJ1c.*10T>C (n.*10T>C)
gnomAD v4
11g.128839116A=CA2008286032KCNJ1c.*9T= (n.*9T=)
11g.128839116A>GCA6357373KCNJ1c.*9T>C (n.*9T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839118delCA2616771372KCNJ1c.*7del (n.*7del)
gnomAD v4
11g.128839118G>ACA6357374KCNJ1c.*7C>T (n.*7C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839118G=CA2008286034KCNJ1c.*7C= (n.*7C=)
11g.128839118G>TCA673265635KCNJ1c.*7C>A (n.*7C>A)
dbSNP gnomAD v3 gnomAD v4
11g.128839120C=CA2008286036KCNJ1c.*5G= (n.*5G=)
11g.128839120C>TCA216031KCNJ1c.*5G>A (n.*5G>A)
ClinVar dbSNP gnomAD v4
11g.128839121A>GCA2794083154KCNJ1c.*4T>C (n.*4T>C)
11g.128839123T>ACA673265639KCNJ1c.*2A>T (n.*2A>T)
dbSNP gnomAD v3 gnomAD v4
11g.128839123T>CCA2794083155KCNJ1c.*2A>G (n.*2A>G)
11g.128839123T>GCA2616771373KCNJ1c.*2A>C (n.*2A>C)
gnomAD v4
11g.128839123T=CA2008286038KCNJ1c.*2A= (n.*2A=)
11g.128839124G>ACA6357376KCNJ1c.*1C>T (n.*1C>T)
dbSNP ExAC gnomAD v2
11g.128839124G>CCA6357375KCNJ1c.*1C>G (n.*1C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839124G=CA2008286040KCNJ1c.*1C= (n.*1C=)
11g.128839125T>ACA383242504KCNJ1c.1119A>T (p.Ter373Tyr)
c.1176A>T (p.Ter392Tyr)
c.1170A>T (p.Ter390Tyr)
11g.128839125T>CCA477702503KCNJ1c.1119A>G (p.Ter373=)
c.1176A>G (p.Ter392=)
c.1170A>G (p.Ter390=)
11g.128839125T>GCA383242506KCNJ1c.1119A>C (p.Ter373Tyr)
c.1176A>C (p.Ter392Tyr)
c.1170A>C (p.Ter390Tyr)
11g.128839125_128839126insATCA2531670958KCNJ1c.1119_*1insTA (n.1119_*1insTA)
c.1176_*1insTA (n.1176_*1insTA)
c.1170_*1insTA (n.1170_*1insTA)
11g.128839126T>ACA383242508KCNJ1c.1118A>T (p.Ter373Leu)
c.1175A>T (p.Ter392Leu)
c.1169A>T (p.Ter390Leu)
11g.128839126T>CCA477702506KCNJ1c.1118A>G (p.Ter373=)
c.1175A>G (p.Ter392=)
c.1169A>G (p.Ter390=)
11g.128839126T>GCA383242513KCNJ1c.1118A>C (p.Ter373Ser)
c.1175A>C (p.Ter392Ser)
c.1169A>C (p.Ter390Ser)
11g.128839127A>CCA383242516KCNJ1c.1117T>G (p.Ter373Glu)
c.1174T>G (p.Ter392Glu)
c.1168T>G (p.Ter390Glu)
11g.128839127A>GCA383242520KCNJ1c.1117T>C (p.Ter373Gln)
c.1174T>C (p.Ter392Gln)
c.1168T>C (p.Ter390Gln)
gnomAD v4
11g.128839127A>TCA383242518KCNJ1c.1117T>A (p.Ter373Lys)
c.1174T>A (p.Ter392Lys)
c.1168T>A (p.Ter390Lys)
11g.128839127_128839128insGAACGTGCA2555380401KCNJ1c.1116_1117insCACGTTC (p.Ter373HisextTer11)
c.1173_1174insCACGTTC (p.Ter392HisextTer11)
c.1167_1168insCACGTTC (p.Ter390HisextTer11)
11g.128839128C>ACA383242522KCNJ1c.1116G>T (p.Met372Ile)
c.1173G>T (p.Met391Ile)
c.1167G>T (p.Met389Ile)
11g.128839128C=CA2008286046KCNJ1c.1116G= (p.Met372=)
c.1173G= (p.Met391=)
c.1167G= (p.Met389=)
11g.128839128C>GCA383242525KCNJ1c.1116G>C (p.Met372Ile)
c.1173G>C (p.Met391Ile)
c.1167G>C (p.Met389Ile)
gnomAD v4
11g.128839128C>TCA6357377KCNJ1c.1116G>A (p.Met372Ile)
c.1173G>A (p.Met391Ile)
c.1167G>A (p.Met389Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839129A>CCA383242527KCNJ1c.1115T>G (p.Met372Arg)
c.1172T>G (p.Met391Arg)
c.1166T>G (p.Met389Arg)
11g.128839129A>GCA383242530KCNJ1c.1115T>C (p.Met372Thr)
c.1172T>C (p.Met391Thr)
c.1166T>C (p.Met389Thr)
gnomAD v4
11g.128839129A>TCA383242531KCNJ1c.1115T>A (p.Met372Lys)
c.1172T>A (p.Met391Lys)
c.1166T>A (p.Met389Lys)
11g.128839130T>ACA383242534KCNJ1c.1114A>T (p.Met372Leu)
c.1171A>T (p.Met391Leu)
c.1165A>T (p.Met389Leu)
11g.128839130T>CCA383242536KCNJ1c.1114A>G (p.Met372Val)
c.1171A>G (p.Met391Val)
c.1165A>G (p.Met389Val)
gnomAD v4
11g.128839130T>GCA383242538KCNJ1c.1114A>C (p.Met372Leu)
c.1171A>C (p.Met391Leu)
c.1165A>C (p.Met389Leu)
11g.128839131T>ACA383242542KCNJ1c.1113A>T (p.Lys371Asn)
c.1170A>T (p.Lys390Asn)
c.1164A>T (p.Lys388Asn)
gnomAD v4
11g.128839131T>CCA477702514KCNJ1c.1113A>G (p.Lys371=)
c.1170A>G (p.Lys390=)
c.1164A>G (p.Lys388=)
11g.128839131T>GCA383242540KCNJ1c.1113A>C (p.Lys371Asn)
c.1170A>C (p.Lys390Asn)
c.1164A>C (p.Lys388Asn)
11g.128839132T>ACA383242545KCNJ1c.1112A>T (p.Lys371Ile)
c.1169A>T (p.Lys390Ile)
c.1163A>T (p.Lys388Ile)
11g.128839132T>CCA383242546KCNJ1c.1112A>G (p.Lys371Arg)
c.1169A>G (p.Lys390Arg)
c.1163A>G (p.Lys388Arg)
11g.128839132T>GCA6357378KCNJ1c.1112A>C (p.Lys371Thr)
c.1169A>C (p.Lys390Thr)
c.1163A>C (p.Lys388Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839132T=CA2008286051KCNJ1c.1112A= (p.Lys371=)
c.1169A= (p.Lys390=)
c.1163A= (p.Lys388=)
11g.128839133T>ACA383242548KCNJ1c.1111A>T (p.Lys371Ter)
c.1168A>T (p.Lys390Ter)
c.1162A>T (p.Lys388Ter)
11g.128839133T>CCA383242549KCNJ1c.1111A>G (p.Lys371Glu)
c.1168A>G (p.Lys390Glu)
c.1162A>G (p.Lys388Glu)
11g.128839133T>GCA383242550KCNJ1c.1111A>C (p.Lys371Gln)
c.1168A>C (p.Lys390Gln)
c.1162A>C (p.Lys388Gln)
11g.128839134G>ACA477702519KCNJ1c.1110C>T (p.Thr370=)
c.1167C>T (p.Thr389=)
c.1161C>T (p.Thr387=)
dbSNP
11g.128839134G>CCA477702518KCNJ1c.1110C>G (p.Thr370=)
c.1167C>G (p.Thr389=)
c.1161C>G (p.Thr387=)
11g.128839134G=CA2008286055KCNJ1c.1110C= (p.Thr370=)
c.1167C= (p.Thr389=)
c.1161C= (p.Thr387=)
11g.128839134G>TCA477702517KCNJ1c.1110C>A (p.Thr370=)
c.1167C>A (p.Thr389=)
c.1161C>A (p.Thr387=)
11g.128839135G>ACA383242553KCNJ1c.1109C>T (p.Thr370Ile)
c.1166C>T (p.Thr389Ile)
c.1160C>T (p.Thr387Ile)
11g.128839135G>CCA383242557KCNJ1c.1109C>G (p.Thr370Ser)
c.1166C>G (p.Thr389Ser)
c.1160C>G (p.Thr387Ser)
11g.128839135G>TCA383242555KCNJ1c.1109C>A (p.Thr370Asn)
c.1166C>A (p.Thr389Asn)
c.1160C>A (p.Thr387Asn)
11g.128839136T>ACA383242559KCNJ1c.1108A>T (p.Thr370Ser)
c.1165A>T (p.Thr389Ser)
c.1159A>T (p.Thr387Ser)
11g.128839136T>CCA383242561KCNJ1c.1108A>G (p.Thr370Ala)
c.1165A>G (p.Thr389Ala)
c.1159A>G (p.Thr387Ala)
11g.128839136T>GCA383242563KCNJ1c.1108A>C (p.Thr370Pro)
c.1165A>C (p.Thr389Pro)
c.1159A>C (p.Thr387Pro)
gnomAD v4
11g.128839137G>ACA477702521KCNJ1c.1107C>T (p.Asp369=)
c.1164C>T (p.Asp388=)
c.1158C>T (p.Asp386=)
11g.128839137G>CCA383242565KCNJ1c.1107C>G (p.Asp369Glu)
c.1164C>G (p.Asp388Glu)
c.1158C>G (p.Asp386Glu)
11g.128839137G>TCA383242567KCNJ1c.1107C>A (p.Asp369Glu)
c.1164C>A (p.Asp388Glu)
c.1158C>A (p.Asp386Glu)
11g.128839138T>ACA383242570KCNJ1c.1106A>T (p.Asp369Val)
c.1163A>T (p.Asp388Val)
c.1157A>T (p.Asp386Val)
11g.128839138T>CCA383242571KCNJ1c.1106A>G (p.Asp369Gly)
c.1163A>G (p.Asp388Gly)
c.1157A>G (p.Asp386Gly)
11g.128839138T>GCA383242572KCNJ1c.1106A>C (p.Asp369Ala)
c.1163A>C (p.Asp388Ala)
c.1157A>C (p.Asp386Ala)
11g.128839139C>ACA383242575KCNJ1c.1105G>T (p.Asp369Tyr)
c.1162G>T (p.Asp388Tyr)
c.1156G>T (p.Asp386Tyr)
11g.128839139C>GCA383242576KCNJ1c.1105G>C (p.Asp369His)
c.1162G>C (p.Asp388His)
c.1156G>C (p.Asp386His)
11g.128839139C>TCA383242578KCNJ1c.1105G>A (p.Asp369Asn)
c.1162G>A (p.Asp388Asn)
c.1156G>A (p.Asp386Asn)
11g.128839140A>CCA383242580KCNJ1c.1104T>G (p.Asp368Glu)
c.1161T>G (p.Asp387Glu)
c.1155T>G (p.Asp385Glu)
11g.128839140A>GCA477702525KCNJ1c.1104T>C (p.Asp368=)
c.1161T>C (p.Asp387=)
c.1155T>C (p.Asp385=)
11g.128839140A>TCA383242582KCNJ1c.1104T>A (p.Asp368Glu)
c.1161T>A (p.Asp387Glu)
c.1155T>A (p.Asp385Glu)
11g.128839141T>ACA383242585KCNJ1c.1103A>T (p.Asp368Val)
c.1160A>T (p.Asp387Val)
c.1154A>T (p.Asp385Val)
dbSNP
11g.128839141T>CCA383242586KCNJ1c.1103A>G (p.Asp368Gly)
c.1160A>G (p.Asp387Gly)
c.1154A>G (p.Asp385Gly)
11g.128839141T>GCA383242588KCNJ1c.1103A>C (p.Asp368Ala)
c.1160A>C (p.Asp387Ala)
c.1154A>C (p.Asp385Ala)
dbSNP
11g.128839141T=CA2008286057KCNJ1c.1103A= (p.Asp368=)
c.1160A= (p.Asp387=)
c.1154A= (p.Asp385=)
11g.128839142C>ACA383242590KCNJ1c.1102G>T (p.Asp368Tyr)
c.1159G>T (p.Asp387Tyr)
c.1153G>T (p.Asp385Tyr)
11g.128839142C=CA2008286059KCNJ1c.1102G= (p.Asp368=)
c.1159G= (p.Asp387=)
c.1153G= (p.Asp385=)
11g.128839142C>GCA383242591KCNJ1c.1102G>C (p.Asp368His)
c.1159G>C (p.Asp387His)
c.1153G>C (p.Asp385His)
dbSNP gnomAD v3 gnomAD v4
11g.128839142C>TCA383242593KCNJ1c.1102G>A (p.Asp368Asn)
c.1159G>A (p.Asp387Asn)
c.1153G>A (p.Asp385Asn)
11g.128839143T>ACA477702526KCNJ1c.1101A>T (p.Thr367=)
c.1158A>T (p.Thr386=)
c.1152A>T (p.Thr384=)
11g.128839143T>CCA230627521KCNJ1c.1101A>G (p.Thr367=)
c.1158A>G (p.Thr386=)
c.1152A>G (p.Thr384=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839143T>GCA477702527KCNJ1c.1101A>C (p.Thr367=)
c.1158A>C (p.Thr386=)
c.1152A>C (p.Thr384=)
11g.128839143T=CA2008286062KCNJ1c.1101A= (p.Thr367=)
c.1158A= (p.Thr386=)
c.1152A= (p.Thr384=)
11g.128839144G>ACA230627528KCNJ1c.1100C>T (p.Thr367Ile)
c.1157C>T (p.Thr386Ile)
c.1151C>T (p.Thr384Ile)
dbSNP gnomAD v4 COSMIC
11g.128839144G>CCA383242596KCNJ1c.1100C>G (p.Thr367Arg)
c.1157C>G (p.Thr386Arg)
c.1151C>G (p.Thr384Arg)
gnomAD v4
11g.128839144G=CA2008286064KCNJ1c.1100C= (p.Thr367=)
c.1157C= (p.Thr386=)
c.1151C= (p.Thr384=)
11g.128839144G>TCA383242598KCNJ1c.1100C>A (p.Thr367Lys)
c.1157C>A (p.Thr386Lys)
c.1151C>A (p.Thr384Lys)
11g.128839145T>ACA383242601KCNJ1c.1099A>T (p.Thr367Ser)
c.1156A>T (p.Thr386Ser)
c.1150A>T (p.Thr384Ser)
gnomAD v4
11g.128839145T>CCA383242603KCNJ1c.1099A>G (p.Thr367Ala)
c.1156A>G (p.Thr386Ala)
c.1150A>G (p.Thr384Ala)
11g.128839145T>GCA383242605KCNJ1c.1099A>C (p.Thr367Pro)
c.1156A>C (p.Thr386Pro)
c.1150A>C (p.Thr384Pro)
11g.128839146T>ACA383242607KCNJ1c.1098A>T (p.Glu366Asp)
c.1155A>T (p.Glu385Asp)
c.1149A>T (p.Glu383Asp)
11g.128839146T>CCA477702641KCNJ1c.1098A>G (p.Glu366=)
c.1155A>G (p.Glu385=)
c.1149A>G (p.Glu383=)
11g.128839146T>GCA383242609KCNJ1c.1098A>C (p.Glu366Asp)
c.1155A>C (p.Glu385Asp)
c.1149A>C (p.Glu383Asp)
11g.128839147T>ACA383242612KCNJ1c.1097A>T (p.Glu366Val)
c.1154A>T (p.Glu385Val)
c.1148A>T (p.Glu383Val)
11g.128839147T>CCA383242615KCNJ1c.1097A>G (p.Glu366Gly)
c.1154A>G (p.Glu385Gly)
c.1148A>G (p.Glu383Gly)
11g.128839147T>GCA383242613KCNJ1c.1097A>C (p.Glu366Ala)
c.1154A>C (p.Glu385Ala)
c.1148A>C (p.Glu383Ala)
11g.128839148C>ACA383242616KCNJ1c.1096G>T (p.Glu366Ter)
c.1153G>T (p.Glu385Ter)
c.1147G>T (p.Glu383Ter)
11g.128839148C>GCA383242617KCNJ1c.1096G>C (p.Glu366Gln)
c.1153G>C (p.Glu385Gln)
c.1147G>C (p.Glu383Gln)
11g.128839148C>TCA383242619KCNJ1c.1096G>A (p.Glu366Lys)
c.1153G>A (p.Glu385Lys)
c.1147G>A (p.Glu383Lys)
11g.128839149A=CA2008286068KCNJ1c.1095T= (p.Asn365=)
c.1152T= (p.Asn384=)
c.1146T= (p.Asn382=)
11g.128839149A>CCA383242620KCNJ1c.1095T>G (p.Asn365Lys)
c.1152T>G (p.Asn384Lys)
c.1146T>G (p.Asn382Lys)
11g.128839149A>GCA477702643KCNJ1c.1095T>C (p.Asn365=)
c.1152T>C (p.Asn384=)
c.1146T>C (p.Asn382=)
dbSNP gnomAD v4
11g.128839149A>TCA383242622KCNJ1c.1095T>A (p.Asn365Lys)
c.1152T>A (p.Asn384Lys)
c.1146T>A (p.Asn382Lys)
11g.128839150T>ACA174855KCNJ1c.1094A>T (p.Asn365Ile)
c.1151A>T (p.Asn384Ile)
c.1145A>T (p.Asn382Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128839150T>CCA230627540KCNJ1c.1094A>G (p.Asn365Ser)
c.1151A>G (p.Asn384Ser)
c.1145A>G (p.Asn382Ser)
dbSNP gnomAD v4
11g.128839150T>GCA383242626KCNJ1c.1094A>C (p.Asn365Thr)
c.1151A>C (p.Asn384Thr)
c.1145A>C (p.Asn382Thr)
11g.128839150T=CA2008286072KCNJ1c.1094A= (p.Asn365=)
c.1151A= (p.Asn384=)
c.1145A= (p.Asn382=)
11g.128839151T>ACA383242629KCNJ1c.1093A>T (p.Asn365Tyr)
c.1150A>T (p.Asn384Tyr)
c.1144A>T (p.Asn382Tyr)
11g.128839151T>CCA383242631KCNJ1c.1093A>G (p.Asn365Asp)
c.1150A>G (p.Asn384Asp)
c.1144A>G (p.Asn382Asp)
11g.128839151T>GCA383242633KCNJ1c.1093A>C (p.Asn365His)
c.1150A>C (p.Asn384His)
c.1144A>C (p.Asn382His)
11g.128839152G>ACA477702649KCNJ1c.1092C>T (p.Val364=)
c.1149C>T (p.Val383=)
c.1143C>T (p.Val381=)
11g.128839152G>CCA477702650KCNJ1c.1092C>G (p.Val364=)
c.1149C>G (p.Val383=)
c.1143C>G (p.Val381=)
11g.128839152G>TCA477702651KCNJ1c.1092C>A (p.Val364=)
c.1149C>A (p.Val383=)
c.1143C>A (p.Val381=)
11g.128839153A>CCA383242635KCNJ1c.1091T>G (p.Val364Gly)
c.1148T>G (p.Val383Gly)
c.1142T>G (p.Val381Gly)
gnomAD v4
11g.128839153A>GCA383242639KCNJ1c.1091T>C (p.Val364Ala)
c.1148T>C (p.Val383Ala)
c.1142T>C (p.Val381Ala)
11g.128839153A>TCA383242637KCNJ1c.1091T>A (p.Val364Asp)
c.1148T>A (p.Val383Asp)
c.1142T>A (p.Val381Asp)
11g.128839154C>ACA383242641KCNJ1c.1090G>T (p.Val364Phe)
c.1147G>T (p.Val383Phe)
c.1141G>T (p.Val381Phe)
11g.128839154C=CA2008286078KCNJ1c.1090G= (p.Val364=)
c.1147G= (p.Val383=)
c.1141G= (p.Val381=)
11g.128839154C>GCA383242644KCNJ1c.1090G>C (p.Val364Leu)
c.1147G>C (p.Val383Leu)
c.1141G>C (p.Val381Leu)
dbSNP gnomAD v2 gnomAD v4
11g.128839154C>TCA383242643KCNJ1c.1090G>A (p.Val364Ile)
c.1147G>A (p.Val383Ile)
c.1141G>A (p.Val381Ile)
11g.128839155T>ACA383242647KCNJ1c.1089A>T (p.Glu363Asp)
c.1146A>T (p.Glu382Asp)
c.1140A>T (p.Glu380Asp)
11g.128839155T>CCA477702655KCNJ1c.1089A>G (p.Glu363=)
c.1146A>G (p.Glu382=)
c.1140A>G (p.Glu380=)
11g.128839155T>GCA383242649KCNJ1c.1089A>C (p.Glu363Asp)
c.1146A>C (p.Glu382Asp)
c.1140A>C (p.Glu380Asp)
11g.128839156T>ACA383242651KCNJ1c.1088A>T (p.Glu363Val)
c.1145A>T (p.Glu382Val)
c.1139A>T (p.Glu380Val)
11g.128839156T>CCA383242653KCNJ1c.1088A>G (p.Glu363Gly)
c.1145A>G (p.Glu382Gly)
c.1139A>G (p.Glu380Gly)
11g.128839156T>GCA383242655KCNJ1c.1088A>C (p.Glu363Ala)
c.1145A>C (p.Glu382Ala)
c.1139A>C (p.Glu380Ala)
11g.128839157C>ACA383242658KCNJ1c.1087G>T (p.Glu363Ter)
c.1144G>T (p.Glu382Ter)
c.1138G>T (p.Glu380Ter)
11g.128839157C>GCA383242660KCNJ1c.1087G>C (p.Glu363Gln)
c.1144G>C (p.Glu382Gln)
c.1138G>C (p.Glu380Gln)
11g.128839157C>TCA383242661KCNJ1c.1087G>A (p.Glu363Lys)
c.1144G>A (p.Glu382Lys)
c.1138G>A (p.Glu380Lys)
gnomAD v4
11g.128839158T>ACA477702657KCNJ1c.1086A>T (p.Ser362=)
c.1143A>T (p.Ser381=)
c.1137A>T (p.Ser379=)
11g.128839158T>CCA6357379KCNJ1c.1086A>G (p.Ser362=)
c.1143A>G (p.Ser381=)
c.1137A>G (p.Ser379=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839158T>GCA477702659KCNJ1c.1086A>C (p.Ser362=)
c.1143A>C (p.Ser381=)
c.1137A>C (p.Ser379=)
11g.128839158T=CA2008286081KCNJ1c.1086A= (p.Ser362=)
c.1143A= (p.Ser381=)
c.1137A= (p.Ser379=)
11g.128839159G>ACA383242664KCNJ1c.1085C>T (p.Ser362Leu)
c.1142C>T (p.Ser381Leu)
c.1136C>T (p.Ser379Leu)
11g.128839159G>CCA383242667KCNJ1c.1085C>G (p.Ser362Ter)
c.1142C>G (p.Ser381Ter)
c.1136C>G (p.Ser379Ter)
dbSNP gnomAD v4
11g.128839159G=CA2008286082KCNJ1c.1085C= (p.Ser362=)
c.1142C= (p.Ser381=)
c.1136C= (p.Ser379=)
11g.128839159G>TCA383242669KCNJ1c.1085C>A (p.Ser362Ter)
c.1142C>A (p.Ser381Ter)
c.1136C>A (p.Ser379Ter)
11g.128839160A>CCA383242671KCNJ1c.1084T>G (p.Ser362Ala)
c.1141T>G (p.Ser381Ala)
c.1135T>G (p.Ser379Ala)
11g.128839160A>GCA383242674KCNJ1c.1084T>C (p.Ser362Pro)
c.1141T>C (p.Ser381Pro)
c.1135T>C (p.Ser379Pro)
11g.128839160A>TCA383242673KCNJ1c.1084T>A (p.Ser362Thr)
c.1141T>A (p.Ser381Thr)
c.1135T>A (p.Ser379Thr)
gnomAD v4
11g.128839161C>ACA383242675KCNJ1c.1083G>T (p.Leu361Phe)
c.1140G>T (p.Leu380Phe)
c.1134G>T (p.Leu378Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839161C=CA2008286083KCNJ1c.1083G= (p.Leu361=)
c.1140G= (p.Leu380=)
c.1134G= (p.Leu378=)
11g.128839161C>GCA383242676KCNJ1c.1083G>C (p.Leu361Phe)
c.1140G>C (p.Leu380Phe)
c.1134G>C (p.Leu378Phe)
dbSNP gnomAD v2 gnomAD v4
11g.128839161C>TCA6357380KCNJ1c.1083G>A (p.Leu361=)
c.1140G>A (p.Leu380=)
c.1134G>A (p.Leu378=)
dbSNP ExAC gnomAD v4 COSMIC
11g.128839162A>CCA383242678KCNJ1c.1082T>G (p.Leu361Trp)
c.1139T>G (p.Leu380Trp)
c.1133T>G (p.Leu378Trp)
11g.128839162A>GCA383242680KCNJ1c.1082T>C (p.Leu361Ser)
c.1139T>C (p.Leu380Ser)
c.1133T>C (p.Leu378Ser)
11g.128839162A>TCA383242681KCNJ1c.1082T>A (p.Leu361Ter)
c.1139T>A (p.Leu380Ter)
c.1133T>A (p.Leu378Ter)
11g.128839163A>CCA383242682KCNJ1c.1081T>G (p.Leu361Val)
c.1138T>G (p.Leu380Val)
c.1132T>G (p.Leu378Val)
11g.128839163A>GCA477702666KCNJ1c.1081T>C (p.Leu361=)
c.1138T>C (p.Leu380=)
c.1132T>C (p.Leu378=)
11g.128839163A>TCA383242683KCNJ1c.1081T>A (p.Leu361Met)
c.1138T>A (p.Leu380Met)
c.1132T>A (p.Leu378Met)
11g.128839164G>ACA477702667KCNJ1c.1080C>T (p.Ile360=)
c.1137C>T (p.Ile379=)
c.1131C>T (p.Ile377=)
gnomAD v4
11g.128839164G>CCA383242685KCNJ1c.1080C>G (p.Ile360Met)
c.1137C>G (p.Ile379Met)
c.1131C>G (p.Ile377Met)
11g.128839164G>TCA477702669KCNJ1c.1080C>A (p.Ile360=)
c.1137C>A (p.Ile379=)
c.1131C>A (p.Ile377=)
11g.128839165A=CA2008286084KCNJ1c.1079T= (p.Ile360=)
c.1136T= (p.Ile379=)
c.1130T= (p.Ile377=)
11g.128839165A>CCA383242689KCNJ1c.1079T>G (p.Ile360Ser)
c.1136T>G (p.Ile379Ser)
c.1130T>G (p.Ile377Ser)
11g.128839165A>GCA6357381KCNJ1c.1079T>C (p.Ile360Thr)
c.1136T>C (p.Ile379Thr)
c.1130T>C (p.Ile377Thr)
dbSNP ExAC
11g.128839165A>TCA383242687KCNJ1c.1079T>A (p.Ile360Asn)
c.1136T>A (p.Ile379Asn)
c.1130T>A (p.Ile377Asn)
11g.128839166T>ACA383242693KCNJ1c.1078A>T (p.Ile360Phe)
c.1135A>T (p.Ile379Phe)
c.1129A>T (p.Ile377Phe)
11g.128839166T>CCA383242694KCNJ1c.1078A>G (p.Ile360Val)
c.1135A>G (p.Ile379Val)
c.1129A>G (p.Ile377Val)
dbSNP
11g.128839166T>GCA383242696KCNJ1c.1078A>C (p.Ile360Leu)
c.1135A>C (p.Ile379Leu)
c.1129A>C (p.Ile377Leu)
11g.128839166T=CA2008286086KCNJ1c.1078A= (p.Ile360=)
c.1135A= (p.Ile379=)
c.1129A= (p.Ile377=)
11g.128839167G>ACA477702672KCNJ1c.1077C>T (p.Phe359=)
c.1134C>T (p.Phe378=)
c.1128C>T (p.Phe376=)
11g.128839167G>CCA383242699KCNJ1c.1077C>G (p.Phe359Leu)
c.1134C>G (p.Phe378Leu)
c.1128C>G (p.Phe376Leu)
11g.128839167G=CA2008286087KCNJ1c.1077C= (p.Phe359=)
c.1134C= (p.Phe378=)
c.1128C= (p.Phe376=)
11g.128839167G>TCA383242700KCNJ1c.1077C>A (p.Phe359Leu)
c.1134C>A (p.Phe378Leu)
c.1128C>A (p.Phe376Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839168A>CCA383242706KCNJ1c.1076T>G (p.Phe359Cys)
c.1133T>G (p.Phe378Cys)
c.1127T>G (p.Phe376Cys)
11g.128839168A>GCA383242705KCNJ1c.1076T>C (p.Phe359Ser)
c.1133T>C (p.Phe378Ser)
c.1127T>C (p.Phe376Ser)
11g.128839168A>TCA383242703KCNJ1c.1076T>A (p.Phe359Tyr)
c.1133T>A (p.Phe378Tyr)
c.1127T>A (p.Phe376Tyr)
11g.128839169A>CCA383242707KCNJ1c.1075T>G (p.Phe359Val)
c.1132T>G (p.Phe378Val)
c.1126T>G (p.Phe376Val)
11g.128839169A>GCA383242709KCNJ1c.1075T>C (p.Phe359Leu)
c.1132T>C (p.Phe378Leu)
c.1126T>C (p.Phe376Leu)
11g.128839169A>TCA383242711KCNJ1c.1075T>A (p.Phe359Ile)
c.1132T>A (p.Phe378Ile)
c.1126T>A (p.Phe376Ile)
11g.128839170G>ACA6357382KCNJ1c.1074C>T (p.Asn358=)
c.1131C>T (p.Asn377=)
c.1125C>T (p.Asn375=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839170G>CCA383242714KCNJ1c.1074C>G (p.Asn358Lys)
c.1131C>G (p.Asn377Lys)
c.1125C>G (p.Asn375Lys)
dbSNP
11g.128839170G=CA2008286088KCNJ1c.1074C= (p.Asn358=)
c.1131C= (p.Asn377=)
c.1125C= (p.Asn375=)
11g.128839170G>TCA6357383KCNJ1c.1074C>A (p.Asn358Lys)
c.1131C>A (p.Asn377Lys)
c.1125C>A (p.Asn375Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839171T>ACA383242716KCNJ1c.1073A>T (p.Asn358Ile)
c.1130A>T (p.Asn377Ile)
c.1124A>T (p.Asn375Ile)
11g.128839171T>CCA383242719KCNJ1c.1073A>G (p.Asn358Ser)
c.1130A>G (p.Asn377Ser)
c.1124A>G (p.Asn375Ser)
gnomAD v4
11g.128839171T>GCA383242717KCNJ1c.1073A>C (p.Asn358Thr)
c.1130A>C (p.Asn377Thr)
c.1124A>C (p.Asn375Thr)
11g.128839172T>ACA383242721KCNJ1c.1072A>T (p.Asn358Tyr)
c.1129A>T (p.Asn377Tyr)
c.1123A>T (p.Asn375Tyr)
11g.128839172T>CCA383242722KCNJ1c.1072A>G (p.Asn358Asp)
c.1129A>G (p.Asn377Asp)
c.1123A>G (p.Asn375Asp)
11g.128839172T>GCA383242724KCNJ1c.1072A>C (p.Asn358His)
c.1129A>C (p.Asn377His)
c.1123A>C (p.Asn375His)
11g.128839173G>ACA477702675KCNJ1c.1071C>T (p.Pro357=)
c.1128C>T (p.Pro376=)
c.1122C>T (p.Pro374=)
gnomAD v4
11g.128839173G>CCA477702676KCNJ1c.1071C>G (p.Pro357=)
c.1128C>G (p.Pro376=)
c.1122C>G (p.Pro374=)
11g.128839173G>TCA477702678KCNJ1c.1071C>A (p.Pro357=)
c.1128C>A (p.Pro376=)
c.1122C>A (p.Pro374=)
11g.128839174G>ACA383242726KCNJ1c.1070C>T (p.Pro357Leu)
c.1127C>T (p.Pro376Leu)
c.1121C>T (p.Pro374Leu)
dbSNP gnomAD v2 gnomAD v4
11g.128839174G>CCA383242728KCNJ1c.1070C>G (p.Pro357Arg)
c.1127C>G (p.Pro376Arg)
c.1121C>G (p.Pro374Arg)
11g.128839174G=CA2008286094KCNJ1c.1070C= (p.Pro357=)
c.1127C= (p.Pro376=)
c.1121C= (p.Pro374=)
11g.128839174G>TCA383242730KCNJ1c.1070C>A (p.Pro357His)
c.1127C>A (p.Pro376His)
c.1121C>A (p.Pro374His)
11g.128839175G>ACA383242732KCNJ1c.1069C>T (p.Pro357Ser)
c.1126C>T (p.Pro376Ser)
c.1120C>T (p.Pro374Ser)
11g.128839175G>CCA383242734KCNJ1c.1069C>G (p.Pro357Ala)
c.1126C>G (p.Pro376Ala)
c.1120C>G (p.Pro374Ala)
11g.128839175G>TCA383242736KCNJ1c.1069C>A (p.Pro357Thr)
c.1126C>A (p.Pro376Thr)
c.1120C>A (p.Pro374Thr)
11g.128839176G>ACA477702681KCNJ1c.1068C>T (p.Asn356=)
c.1125C>T (p.Asn375=)
c.1119C>T (p.Asn373=)
gnomAD v4
11g.128839176G>CCA383242738KCNJ1c.1068C>G (p.Asn356Lys)
c.1125C>G (p.Asn375Lys)
c.1119C>G (p.Asn373Lys)
11g.128839176G>TCA383242739KCNJ1c.1068C>A (p.Asn356Lys)
c.1125C>A (p.Asn375Lys)
c.1119C>A (p.Asn373Lys)
gnomAD v4
11g.128839177T>ACA383242746KCNJ1c.1067A>T (p.Asn356Ile)
c.1124A>T (p.Asn375Ile)
c.1118A>T (p.Asn373Ile)
11g.128839177T>CCA383242744KCNJ1c.1067A>G (p.Asn356Ser)
c.1124A>G (p.Asn375Ser)
c.1118A>G (p.Asn373Ser)
11g.128839177T>GCA383242742KCNJ1c.1067A>C (p.Asn356Thr)
c.1124A>C (p.Asn375Thr)
c.1118A>C (p.Asn373Thr)
11g.128839178T>ACA383242749KCNJ1c.1066A>T (p.Asn356Tyr)
c.1123A>T (p.Asn375Tyr)
c.1117A>T (p.Asn373Tyr)
11g.128839178T>CCA383242752KCNJ1c.1066A>G (p.Asn356Asp)
c.1123A>G (p.Asn375Asp)
c.1117A>G (p.Asn373Asp)
11g.128839178T>GCA383242750KCNJ1c.1066A>C (p.Asn356His)
c.1123A>C (p.Asn375His)
c.1117A>C (p.Asn373His)
11g.128839179G>ACA6357384KCNJ1c.1065C>T (p.Asp355=)
c.1122C>T (p.Asp374=)
c.1116C>T (p.Asp372=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839179G>CCA383242757KCNJ1c.1065C>G (p.Asp355Glu)
c.1122C>G (p.Asp374Glu)
c.1116C>G (p.Asp372Glu)
11g.128839179G=CA2008286097KCNJ1c.1065C= (p.Asp355=)
c.1122C= (p.Asp374=)
c.1116C= (p.Asp372=)
11g.128839179G>TCA383242755KCNJ1c.1065C>A (p.Asp355Glu)
c.1122C>A (p.Asp374Glu)
c.1116C>A (p.Asp372Glu)
11g.128839180T>ACA383242760KCNJ1c.1064A>T (p.Asp355Val)
c.1121A>T (p.Asp374Val)
c.1115A>T (p.Asp372Val)
11g.128839180T>CCA383242764KCNJ1c.1064A>G (p.Asp355Gly)
c.1121A>G (p.Asp374Gly)
c.1115A>G (p.Asp372Gly)
11g.128839180T>GCA383242762KCNJ1c.1064A>C (p.Asp355Ala)
c.1121A>C (p.Asp374Ala)
c.1115A>C (p.Asp372Ala)
11g.128839181C>ACA383242766KCNJ1c.1063G>T (p.Asp355Tyr)
c.1120G>T (p.Asp374Tyr)
c.1114G>T (p.Asp372Tyr)
11g.128839181C>GCA383242768KCNJ1c.1063G>C (p.Asp355His)
c.1120G>C (p.Asp374His)
c.1114G>C (p.Asp372His)
11g.128839181C>TCA383242770KCNJ1c.1063G>A (p.Asp355Asn)
c.1120G>A (p.Asp374Asn)
c.1114G>A (p.Asp372Asn)
11g.128839182A=CA2008286099KCNJ1c.1062T= (p.Tyr354=)
c.1119T= (p.Tyr373=)
c.1113T= (p.Tyr371=)
11g.128839182A>CCA383242772KCNJ1c.1062T>G (p.Tyr354Ter)
c.1119T>G (p.Tyr373Ter)
c.1113T>G (p.Tyr371Ter)
11g.128839182A>GCA230627601KCNJ1c.1062T>C (p.Tyr354=)
c.1119T>C (p.Tyr373=)
c.1113T>C (p.Tyr371=)
dbSNP gnomAD v4
11g.128839182A>TCA383242774KCNJ1c.1062T>A (p.Tyr354Ter)
c.1119T>A (p.Tyr373Ter)
c.1113T>A (p.Tyr371Ter)
11g.128839183T>ACA383242777KCNJ1c.1061A>T (p.Tyr354Phe)
c.1118A>T (p.Tyr373Phe)
c.1112A>T (p.Tyr371Phe)
11g.128839183T>CCA6357385KCNJ1c.1061A>G (p.Tyr354Cys)
c.1118A>G (p.Tyr373Cys)
c.1112A>G (p.Tyr371Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839183T>GCA383242779KCNJ1c.1061A>C (p.Tyr354Ser)
c.1118A>C (p.Tyr373Ser)
c.1112A>C (p.Tyr371Ser)
11g.128839183T=CA2008286102KCNJ1c.1061A= (p.Tyr354=)
c.1118A= (p.Tyr373=)
c.1112A= (p.Tyr371=)
11g.128839184A>CCA383242782KCNJ1c.1060T>G (p.Tyr354Asp)
c.1117T>G (p.Tyr373Asp)
c.1111T>G (p.Tyr371Asp)
11g.128839184A>GCA383242784KCNJ1c.1060T>C (p.Tyr354His)
c.1117T>C (p.Tyr373His)
c.1111T>C (p.Tyr371His)
11g.128839184A>TCA383242785KCNJ1c.1060T>A (p.Tyr354Asn)
c.1117T>A (p.Tyr373Asn)
c.1111T>A (p.Tyr371Asn)
11g.128839185G>ACA477702686KCNJ1c.1059C>T (p.Gly353=)
c.1116C>T (p.Gly372=)
c.1110C>T (p.Gly370=)
dbSNP gnomAD v4
11g.128839185G>CCA477702687KCNJ1c.1059C>G (p.Gly353=)
c.1116C>G (p.Gly372=)
c.1110C>G (p.Gly370=)
gnomAD v4
11g.128839185G=CA2008286106KCNJ1c.1059C= (p.Gly353=)
c.1116C= (p.Gly372=)
c.1110C= (p.Gly370=)
11g.128839185G>TCA477702688KCNJ1c.1059C>A (p.Gly353=)
c.1116C>A (p.Gly372=)
c.1110C>A (p.Gly370=)
11g.128839186C>ACA383242792KCNJ1c.1058G>T (p.Gly353Val)
c.1115G>T (p.Gly372Val)
c.1109G>T (p.Gly370Val)
gnomAD v4
11g.128839186C>GCA383242788KCNJ1c.1058G>C (p.Gly353Ala)
c.1115G>C (p.Gly372Ala)
c.1109G>C (p.Gly370Ala)
11g.128839186C>TCA383242790KCNJ1c.1058G>A (p.Gly353Asp)
c.1115G>A (p.Gly372Asp)
c.1109G>A (p.Gly370Asp)
11g.128839187C>ACA383242795KCNJ1c.1057G>T (p.Gly353Cys)
c.1114G>T (p.Gly372Cys)
c.1108G>T (p.Gly370Cys)
11g.128839187C=CA2008286110KCNJ1c.1057G= (p.Gly353=)
c.1114G= (p.Gly372=)
c.1108G= (p.Gly370=)
11g.128839187C>GCA383242796KCNJ1c.1057G>C (p.Gly353Arg)
c.1114G>C (p.Gly372Arg)
c.1108G>C (p.Gly370Arg)
11g.128839187C>TCA383242799KCNJ1c.1057G>A (p.Gly353Ser)
c.1114G>A (p.Gly372Ser)
c.1108G>A (p.Gly370Ser)
dbSNP gnomAD v2 gnomAD v4
11g.128839188T>ACA383242801KCNJ1c.1056A>T (p.Arg352Ser)
c.1113A>T (p.Arg371Ser)
c.1107A>T (p.Arg369Ser)
11g.128839188T>CCA477702690KCNJ1c.1056A>G (p.Arg352=)
c.1113A>G (p.Arg371=)
c.1107A>G (p.Arg369=)
11g.128839188T>GCA383242803KCNJ1c.1056A>C (p.Arg352Ser)
c.1113A>C (p.Arg371Ser)
c.1107A>C (p.Arg369Ser)
11g.128839189C>ACA383242805KCNJ1c.1055G>T (p.Arg352Ile)
c.1112G>T (p.Arg371Ile)
c.1106G>T (p.Arg369Ile)
11g.128839189C=CA2008286112KCNJ1c.1055G= (p.Arg352=)
c.1112G= (p.Arg371=)
c.1106G= (p.Arg369=)
11g.128839189C>GCA383242807KCNJ1c.1055G>C (p.Arg352Thr)
c.1112G>C (p.Arg371Thr)
c.1106G>C (p.Arg369Thr)
dbSNP gnomAD v2 gnomAD v4
11g.128839189C>TCA383242809KCNJ1c.1055G>A (p.Arg352Lys)
c.1112G>A (p.Arg371Lys)
c.1106G>A (p.Arg369Lys)
11g.128839190T>ACA383242811KCNJ1c.1054A>T (p.Arg352Ter)
c.1111A>T (p.Arg371Ter)
c.1105A>T (p.Arg369Ter)
11g.128839190T>CCA383242812KCNJ1c.1054A>G (p.Arg352Gly)
c.1111A>G (p.Arg371Gly)
c.1105A>G (p.Arg369Gly)
gnomAD v4
11g.128839190T>GCA477702692KCNJ1c.1054A>C (p.Arg352=)
c.1111A>C (p.Arg371=)
c.1105A>C (p.Arg369=)
11g.128839191C>ACA383242816KCNJ1c.1053G>T (p.Lys351Asn)
c.1110G>T (p.Lys370Asn)
c.1104G>T (p.Lys368Asn)
11g.128839191C=CA2008286113KCNJ1c.1053G= (p.Lys351=)
c.1110G= (p.Lys370=)
c.1104G= (p.Lys368=)
11g.128839191C>GCA383242815KCNJ1c.1053G>C (p.Lys351Asn)
c.1110G>C (p.Lys370Asn)
c.1104G>C (p.Lys368Asn)
11g.128839191C>TCA230627609KCNJ1c.1053G>A (p.Lys351=)
c.1110G>A (p.Lys370=)
c.1104G>A (p.Lys368=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839192T>ACA383242818KCNJ1c.1052A>T (p.Lys351Met)
c.1109A>T (p.Lys370Met)
c.1103A>T (p.Lys368Met)
11g.128839192T>CCA383242819KCNJ1c.1052A>G (p.Lys351Arg)
c.1109A>G (p.Lys370Arg)
c.1103A>G (p.Lys368Arg)
11g.128839192T>GCA383242821KCNJ1c.1052A>C (p.Lys351Thr)
c.1109A>C (p.Lys370Thr)
c.1103A>C (p.Lys368Thr)
dbSNP gnomAD v3 gnomAD v4
11g.128839192T=CA2008286116KCNJ1c.1052A= (p.Lys351=)
c.1109A= (p.Lys370=)
c.1103A= (p.Lys368=)
11g.128839193T>ACA383242823KCNJ1c.1051A>T (p.Lys351Ter)
c.1108A>T (p.Lys370Ter)
c.1102A>T (p.Lys368Ter)
11g.128839193T>CCA6357386KCNJ1c.1051A>G (p.Lys351Glu)
c.1108A>G (p.Lys370Glu)
c.1102A>G (p.Lys368Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839193T>GCA383242826KCNJ1c.1051A>C (p.Lys351Gln)
c.1108A>C (p.Lys370Gln)
c.1102A>C (p.Lys368Gln)
11g.128839193T=CA2008286120KCNJ1c.1051A= (p.Lys351=)
c.1108A= (p.Lys370=)
c.1102A= (p.Lys368=)
11g.128839194C>ACA383242827KCNJ1c.1050G>T (p.Met350Ile)
c.1107G>T (p.Met369Ile)
c.1101G>T (p.Met367Ile)
11g.128839194C=CA2008286122KCNJ1c.1050G= (p.Met350=)
c.1107G= (p.Met369=)
c.1101G= (p.Met367=)
11g.128839194C>GCA383242829KCNJ1c.1050G>C (p.Met350Ile)
c.1107G>C (p.Met369Ile)
c.1101G>C (p.Met367Ile)
11g.128839194C>TCA6357387KCNJ1c.1050G>A (p.Met350Ile)
c.1107G>A (p.Met369Ile)
c.1101G>A (p.Met367Ile)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128839195A>CCA383242832KCNJ1c.1049T>G (p.Met350Arg)
c.1106T>G (p.Met369Arg)
c.1100T>G (p.Met367Arg)
11g.128839195A>GCA383242834KCNJ1c.1049T>C (p.Met350Thr)
c.1106T>C (p.Met369Thr)
c.1100T>C (p.Met367Thr)
11g.128839195A>TCA383242835KCNJ1c.1049T>A (p.Met350Lys)
c.1106T>A (p.Met369Lys)
c.1100T>A (p.Met367Lys)
11g.128839196T>ACA383242841KCNJ1c.1048A>T (p.Met350Leu)
c.1105A>T (p.Met369Leu)
c.1099A>T (p.Met367Leu)
11g.128839196T>CCA383242840KCNJ1c.1048A>G (p.Met350Val)
c.1105A>G (p.Met369Val)
c.1099A>G (p.Met367Val)
11g.128839196T>GCA383242838KCNJ1c.1048A>C (p.Met350Leu)
c.1105A>C (p.Met369Leu)
c.1099A>C (p.Met367Leu)
11g.128839197C>ACA383242844KCNJ1c.1047G>T (p.Arg349Ser)
c.1104G>T (p.Arg368Ser)
c.1098G>T (p.Arg366Ser)
11g.128839197C=CA2008286124KCNJ1c.1047G= (p.Arg349=)
c.1104G= (p.Arg368=)
c.1098G= (p.Arg366=)
11g.128839197C>GCA383242845KCNJ1c.1047G>C (p.Arg349Ser)
c.1104G>C (p.Arg368Ser)
c.1098G>C (p.Arg366Ser)
11g.128839197C>TCA230627659KCNJ1c.1047G>A (p.Arg349=)
c.1104G>A (p.Arg368=)
c.1098G>A (p.Arg366=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839198delCA2616771374KCNJ1c.1047del (p.Met350Ter)
c.1104del (p.Met369Ter)
c.1098del (p.Met367Ter)
gnomAD v4
11g.128839198C>ACA383242847KCNJ1c.1046G>T (p.Arg349Met)
c.1103G>T (p.Arg368Met)
c.1097G>T (p.Arg366Met)
11g.128839198C>GCA383242850KCNJ1c.1046G>C (p.Arg349Thr)
c.1103G>C (p.Arg368Thr)
c.1097G>C (p.Arg366Thr)
11g.128839198C>TCA383242851KCNJ1c.1046G>A (p.Arg349Lys)
c.1103G>A (p.Arg368Lys)
c.1097G>A (p.Arg366Lys)
11g.128839199T>ACA383242852KCNJ1c.1045A>T (p.Arg349Trp)
c.1102A>T (p.Arg368Trp)
c.1096A>T (p.Arg366Trp)
11g.128839199T>CCA6357388KCNJ1c.1045A>G (p.Arg349Gly)
c.1102A>G (p.Arg368Gly)
c.1096A>G (p.Arg366Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839199T>GCA477702704KCNJ1c.1045A>C (p.Arg349=)
c.1102A>C (p.Arg368=)
c.1096A>C (p.Arg366=)
COSMIC
11g.128839199T=CA2008286128KCNJ1c.1045A= (p.Arg349=)
c.1102A= (p.Arg368=)
c.1096A= (p.Arg366=)
11g.128839200G>ACA477702706KCNJ1c.1044C>T (p.Ala348=)
c.1101C>T (p.Ala367=)
c.1095C>T (p.Ala365=)
11g.128839200G>CCA477702707KCNJ1c.1044C>G (p.Ala348=)
c.1101C>G (p.Ala367=)
c.1095C>G (p.Ala365=)
11g.128839200G>TCA477702708KCNJ1c.1044C>A (p.Ala348=)
c.1101C>A (p.Ala367=)
c.1095C>A (p.Ala365=)
11g.128839201G>ACA383242853KCNJ1c.1043C>T (p.Ala348Val)
c.1100C>T (p.Ala367Val)
c.1094C>T (p.Ala365Val)
11g.128839201G>CCA383242854KCNJ1c.1043C>G (p.Ala348Gly)
c.1100C>G (p.Ala367Gly)
c.1094C>G (p.Ala365Gly)
11g.128839201G=CA2008286131KCNJ1c.1043C= (p.Ala348=)
c.1100C= (p.Ala367=)
c.1094C= (p.Ala365=)
11g.128839201G>TCA6357389KCNJ1c.1043C>A (p.Ala348Asp)
c.1100C>A (p.Ala367Asp)
c.1094C>A (p.Ala365Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched