Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2117823C>ACA394393035PKD1c.1169G>T (p.Ser390Ile)
c.256G>T
c.137G>T (p.Ser46Ile)
n.302G>T
c.1223G>T (p.Ser408Ile)
c.1151G>T (p.Ser384Ile)
c.1097G>T (p.Ser366Ile)
c.1016G>T (p.Ser339Ile)
c.959G>T (p.Ser320Ile)
n.1238G>T
16g.2117823C>GCA394393037PKD1c.1169G>C (p.Ser390Thr)
c.256G>C
c.137G>C (p.Ser46Thr)
n.302G>C
c.1223G>C (p.Ser408Thr)
c.1151G>C (p.Ser384Thr)
c.1097G>C (p.Ser366Thr)
c.1016G>C (p.Ser339Thr)
c.959G>C (p.Ser320Thr)
n.1238G>C
16g.2117823C>TCA394393038PKD1c.1169G>A (p.Ser390Asn)
c.256G>A
c.137G>A (p.Ser46Asn)
n.302G>A
c.1223G>A (p.Ser408Asn)
c.1151G>A (p.Ser384Asn)
c.1097G>A (p.Ser366Asn)
c.1016G>A (p.Ser339Asn)
c.959G>A (p.Ser320Asn)
n.1238G>A
 gnomAD v4
16g.2117824T>ACA394393039PKD1c.1168A>T (p.Ser390Cys)
c.255A>T
c.136A>T (p.Ser46Cys)
n.301A>T
c.1222A>T (p.Ser408Cys)
c.1150A>T (p.Ser384Cys)
c.1096A>T (p.Ser366Cys)
c.1015A>T (p.Ser339Cys)
c.958A>T (p.Ser320Cys)
n.1237A>T
16g.2117824T>CCA394393041PKD1c.1168A>G (p.Ser390Gly)
c.255A>G
c.136A>G (p.Ser46Gly)
n.301A>G
c.1222A>G (p.Ser408Gly)
c.1150A>G (p.Ser384Gly)
c.1096A>G (p.Ser366Gly)
c.1015A>G (p.Ser339Gly)
c.958A>G (p.Ser320Gly)
n.1237A>G
 dbSNP gnomAD v2 gnomAD v4
16g.2117824T>GCA394393042PKD1c.1168A>C (p.Ser390Arg)
c.255A>C
c.136A>C (p.Ser46Arg)
n.301A>C
c.1222A>C (p.Ser408Arg)
c.1150A>C (p.Ser384Arg)
c.1096A>C (p.Ser366Arg)
c.1015A>C (p.Ser339Arg)
c.958A>C (p.Ser320Arg)
n.1237A>C
16g.2117824T=CA2202051927PKD1c.1168A= (p.Ser390=)
c.255A=
c.136A= (p.Ser46=)
n.301A=
c.1222A= (p.Ser408=)
c.1150A= (p.Ser384=)
c.1096A= (p.Ser366=)
c.1015A= (p.Ser339=)
c.958A= (p.Ser320=)
n.1237A=
16g.2117825G>ACA493050200PKD1c.1167C>T (p.Tyr389=)
c.254C>T
c.135C>T (p.Tyr45=)
n.300C>T
c.1221C>T (p.Tyr407=)
c.1149C>T (p.Tyr383=)
c.1095C>T (p.Tyr365=)
c.1014C>T (p.Tyr338=)
c.957C>T (p.Tyr319=)
n.1236C>T
 dbSNP gnomAD v4
16g.2117825G>CCA394393043PKD1c.1167C>G (p.Tyr389Ter)
c.254C>G
c.135C>G (p.Tyr45Ter)
n.300C>G
c.1221C>G (p.Tyr407Ter)
c.1149C>G (p.Tyr383Ter)
c.1095C>G (p.Tyr365Ter)
c.1014C>G (p.Tyr338Ter)
c.957C>G (p.Tyr319Ter)
n.1236C>G
16g.2117825G=CA2202051928PKD1c.1167C= (p.Tyr389=)
c.254C=
c.135C= (p.Tyr45=)
n.300C=
c.1221C= (p.Tyr407=)
c.1149C= (p.Tyr383=)
c.1095C= (p.Tyr365=)
c.1014C= (p.Tyr338=)
c.957C= (p.Tyr319=)
n.1236C=
16g.2117825G>TCA394393044PKD1c.1167C>A (p.Tyr389Ter)
c.254C>A
c.135C>A (p.Tyr45Ter)
n.300C>A
c.1221C>A (p.Tyr407Ter)
c.1149C>A (p.Tyr383Ter)
c.1095C>A (p.Tyr365Ter)
c.1014C>A (p.Tyr338Ter)
c.957C>A (p.Tyr319Ter)
n.1236C>A
16g.2117826T>ACA394393049PKD1c.1166A>T (p.Tyr389Phe)
c.253A>T
c.134A>T (p.Tyr45Phe)
n.299A>T
c.1220A>T (p.Tyr407Phe)
c.1148A>T (p.Tyr383Phe)
c.1094A>T (p.Tyr365Phe)
c.1013A>T (p.Tyr338Phe)
c.956A>T (p.Tyr319Phe)
n.1235A>T
16g.2117826T>CCA394393048PKD1c.1166A>G (p.Tyr389Cys)
c.253A>G
c.134A>G (p.Tyr45Cys)
n.299A>G
c.1220A>G (p.Tyr407Cys)
c.1148A>G (p.Tyr383Cys)
c.1094A>G (p.Tyr365Cys)
c.1013A>G (p.Tyr338Cys)
c.956A>G (p.Tyr319Cys)
n.1235A>G
16g.2117826T>GCA394393046PKD1c.1166A>C (p.Tyr389Ser)
c.253A>C
c.134A>C (p.Tyr45Ser)
n.299A>C
c.1220A>C (p.Tyr407Ser)
c.1148A>C (p.Tyr383Ser)
c.1094A>C (p.Tyr365Ser)
c.1013A>C (p.Tyr338Ser)
c.956A>C (p.Tyr319Ser)
n.1235A>C
16g.2117827A>CCA394393051PKD1c.1165T>G (p.Tyr389Asp)
c.252T>G
c.133T>G (p.Tyr45Asp)
n.298T>G
c.1219T>G (p.Tyr407Asp)
c.1147T>G (p.Tyr383Asp)
c.1093T>G (p.Tyr365Asp)
c.1012T>G (p.Tyr338Asp)
c.955T>G (p.Tyr319Asp)
n.1234T>G
16g.2117827A>GCA394393052PKD1c.1165T>C (p.Tyr389His)
c.252T>C
c.133T>C (p.Tyr45His)
n.298T>C
c.1219T>C (p.Tyr407His)
c.1147T>C (p.Tyr383His)
c.1093T>C (p.Tyr365His)
c.1012T>C (p.Tyr338His)
c.955T>C (p.Tyr319His)
n.1234T>C
16g.2117827A>TCA394393053PKD1c.1165T>A (p.Tyr389Asn)
c.252T>A
c.133T>A (p.Tyr45Asn)
n.298T>A
c.1219T>A (p.Tyr407Asn)
c.1147T>A (p.Tyr383Asn)
c.1093T>A (p.Tyr365Asn)
c.1012T>A (p.Tyr338Asn)
c.955T>A (p.Tyr319Asn)
n.1234T>A
16g.2117827dupCA2631139307PKD1c.1165dup (p.Tyr389LeufsTer?)
c.252dup
c.133dup (p.Tyr45LeufsTer?)
n.298dup
c.1219dup (p.Tyr407LeufsTer?)
c.1147dup (p.Tyr383LeufsTer?)
c.1093dup (p.Tyr365LeufsTer?)
c.1012dup (p.Tyr338LeufsTer?)
c.955dup (p.Tyr319LeufsTer?)
n.1234dup
 gnomAD v4
16g.2117828G>ACA493050201PKD1c.1164C>T (p.Ala388=)
c.251C>T
c.132C>T (p.Ala44=)
n.297C>T
c.1218C>T (p.Ala406=)
c.1146C>T (p.Ala382=)
c.1092C>T (p.Ala364=)
c.1011C>T (p.Ala337=)
c.954C>T (p.Ala318=)
n.1233C>T
16g.2117828G>CCA493050202PKD1c.1164C>G (p.Ala388=)
c.251C>G
c.132C>G (p.Ala44=)
n.297C>G
c.1218C>G (p.Ala406=)
c.1146C>G (p.Ala382=)
c.1092C>G (p.Ala364=)
c.1011C>G (p.Ala337=)
c.954C>G (p.Ala318=)
n.1233C>G
16g.2117828G>TCA493050203PKD1c.1164C>A (p.Ala388=)
c.251C>A
c.132C>A (p.Ala44=)
n.297C>A
c.1218C>A (p.Ala406=)
c.1146C>A (p.Ala382=)
c.1092C>A (p.Ala364=)
c.1011C>A (p.Ala337=)
c.954C>A (p.Ala318=)
n.1233C>A
16g.2117829G>ACA394393055PKD1c.1163C>T (p.Ala388Val)
c.250C>T
c.131C>T (p.Ala44Val)
n.296C>T
c.1217C>T (p.Ala406Val)
c.1145C>T (p.Ala382Val)
c.1091C>T (p.Ala364Val)
c.1010C>T (p.Ala337Val)
c.953C>T (p.Ala318Val)
n.1232C>T
16g.2117829G>CCA394393056PKD1c.1163C>G (p.Ala388Gly)
c.250C>G
c.131C>G (p.Ala44Gly)
n.296C>G
c.1217C>G (p.Ala406Gly)
c.1145C>G (p.Ala382Gly)
c.1091C>G (p.Ala364Gly)
c.1010C>G (p.Ala337Gly)
c.953C>G (p.Ala318Gly)
n.1232C>G
16g.2117829G>TCA394393057PKD1c.1163C>A (p.Ala388Asp)
c.250C>A
c.131C>A (p.Ala44Asp)
n.296C>A
c.1217C>A (p.Ala406Asp)
c.1145C>A (p.Ala382Asp)
c.1091C>A (p.Ala364Asp)
c.1010C>A (p.Ala337Asp)
c.953C>A (p.Ala318Asp)
n.1232C>A
16g.2117830C>ACA7833590PKD1c.1162G>T (p.Ala388Ser)
c.249G>T
c.130G>T (p.Ala44Ser)
n.295G>T
c.1216G>T (p.Ala406Ser)
c.1144G>T (p.Ala382Ser)
c.1090G>T (p.Ala364Ser)
c.1009G>T (p.Ala337Ser)
c.952G>T (p.Ala318Ser)
n.1231G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2117830C=CA2202051929PKD1c.1162G= (p.Ala388=)
c.249G=
c.130G= (p.Ala44=)
n.295G=
c.1216G= (p.Ala406=)
c.1144G= (p.Ala382=)
c.1090G= (p.Ala364=)
c.1009G= (p.Ala337=)
c.952G= (p.Ala318=)
n.1231G=
16g.2117830C>GCA394393058PKD1c.1162G>C (p.Ala388Pro)
c.249G>C
c.130G>C (p.Ala44Pro)
n.295G>C
c.1216G>C (p.Ala406Pro)
c.1144G>C (p.Ala382Pro)
c.1090G>C (p.Ala364Pro)
c.1009G>C (p.Ala337Pro)
c.952G>C (p.Ala318Pro)
n.1231G>C
16g.2117830C>TCA7833589PKD1c.1162G>A (p.Ala388Thr)
c.249G>A
c.130G>A (p.Ala44Thr)
n.295G>A
c.1216G>A (p.Ala406Thr)
c.1144G>A (p.Ala382Thr)
c.1090G>A (p.Ala364Thr)
c.1009G>A (p.Ala337Thr)
c.952G>A (p.Ala318Thr)
n.1231G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2117831G>ACA493050205PKD1c.1161C>T (p.Ala387=)
c.248C>T
c.129C>T (p.Ala43=)
n.294C>T
c.1215C>T (p.Ala405=)
c.1143C>T (p.Ala381=)
c.1089C>T (p.Ala363=)
c.1008C>T (p.Ala336=)
c.951C>T (p.Ala317=)
n.1230C>T
 dbSNP gnomAD v3 gnomAD v4
16g.2117831G>CCA493050206PKD1c.1161C>G (p.Ala387=)
c.248C>G
c.129C>G (p.Ala43=)
n.294C>G
c.1215C>G (p.Ala405=)
c.1143C>G (p.Ala381=)
c.1089C>G (p.Ala363=)
c.1008C>G (p.Ala336=)
c.951C>G (p.Ala317=)
n.1230C>G
16g.2117831G=CA2202051930PKD1c.1161C= (p.Ala387=)
c.248C=
c.129C= (p.Ala43=)
n.294C=
c.1215C= (p.Ala405=)
c.1143C= (p.Ala381=)
c.1089C= (p.Ala363=)
c.1008C= (p.Ala336=)
c.951C= (p.Ala317=)
n.1230C=
16g.2117831G>TCA493050204PKD1c.1161C>A (p.Ala387=)
c.248C>A
c.129C>A (p.Ala43=)
n.294C>A
c.1215C>A (p.Ala405=)
c.1143C>A (p.Ala381=)
c.1089C>A (p.Ala363=)
c.1008C>A (p.Ala336=)
c.951C>A (p.Ala317=)
n.1230C>A
16g.2117832G>ACA394393060PKD1c.1160C>T (p.Ala387Val)
c.247C>T
c.128C>T (p.Ala43Val)
n.293C>T
c.1214C>T (p.Ala405Val)
c.1142C>T (p.Ala381Val)
c.1088C>T (p.Ala363Val)
c.1007C>T (p.Ala336Val)
c.950C>T (p.Ala317Val)
n.1229C>T
 dbSNP gnomAD v4
16g.2117832G>CCA394393062PKD1c.1160C>G (p.Ala387Gly)
c.247C>G
c.128C>G (p.Ala43Gly)
n.293C>G
c.1214C>G (p.Ala405Gly)
c.1142C>G (p.Ala381Gly)
c.1088C>G (p.Ala363Gly)
c.1007C>G (p.Ala336Gly)
c.950C>G (p.Ala317Gly)
n.1229C>G
16g.2117832G=CA2202051931PKD1c.1160C= (p.Ala387=)
c.247C=
c.128C= (p.Ala43=)
n.293C=
c.1214C= (p.Ala405=)
c.1142C= (p.Ala381=)
c.1088C= (p.Ala363=)
c.1007C= (p.Ala336=)
c.950C= (p.Ala317=)
n.1229C=
16g.2117832G>TCA394393063PKD1c.1160C>A (p.Ala387Asp)
c.247C>A
c.128C>A (p.Ala43Asp)
n.293C>A
c.1214C>A (p.Ala405Asp)
c.1142C>A (p.Ala381Asp)
c.1088C>A (p.Ala363Asp)
c.1007C>A (p.Ala336Asp)
c.950C>A (p.Ala317Asp)
n.1229C>A
16g.2117833C>ACA394393067PKD1c.1159G>T (p.Ala387Ser)
c.246G>T
c.127G>T (p.Ala43Ser)
n.292G>T
c.1213G>T (p.Ala405Ser)
c.1141G>T (p.Ala381Ser)
c.1087G>T (p.Ala363Ser)
c.1006G>T (p.Ala336Ser)
c.949G>T (p.Ala317Ser)
n.1228G>T
16g.2117833C>GCA394393066PKD1c.1159G>C (p.Ala387Pro)
c.246G>C
c.127G>C (p.Ala43Pro)
n.292G>C
c.1213G>C (p.Ala405Pro)
c.1141G>C (p.Ala381Pro)
c.1087G>C (p.Ala363Pro)
c.1006G>C (p.Ala336Pro)
c.949G>C (p.Ala317Pro)
n.1228G>C
16g.2117833C>TCA394393064PKD1c.1159G>A (p.Ala387Thr)
c.246G>A
c.127G>A (p.Ala43Thr)
n.292G>A
c.1213G>A (p.Ala405Thr)
c.1141G>A (p.Ala381Thr)
c.1087G>A (p.Ala363Thr)
c.1006G>A (p.Ala336Thr)
c.949G>A (p.Ala317Thr)
n.1228G>A
 gnomAD v4
16g.2117834C>ACA394393069PKD1c.1158G>T (p.Glu386Asp)
c.245G>T
c.126G>T (p.Glu42Asp)
n.291G>T
c.1212G>T (p.Glu404Asp)
c.1140G>T (p.Glu380Asp)
c.1086G>T (p.Glu362Asp)
c.1005G>T (p.Glu335Asp)
c.948G>T (p.Glu316Asp)
n.1227G>T
16g.2117834C>GCA394393070PKD1c.1158G>C (p.Glu386Asp)
c.245G>C
c.126G>C (p.Glu42Asp)
n.291G>C
c.1212G>C (p.Glu404Asp)
c.1140G>C (p.Glu380Asp)
c.1086G>C (p.Glu362Asp)
c.1005G>C (p.Glu335Asp)
c.948G>C (p.Glu316Asp)
n.1227G>C
16g.2117834C>TCA493050207PKD1c.1158G>A (p.Glu386=)
c.245G>A
c.126G>A (p.Glu42=)
n.291G>A
c.1212G>A (p.Glu404=)
c.1140G>A (p.Glu380=)
c.1086G>A (p.Glu362=)
c.1005G>A (p.Glu335=)
c.948G>A (p.Glu316=)
n.1227G>A
16g.2117835T>ACA394393072PKD1c.1157A>T (p.Glu386Val)
c.244A>T
c.125A>T (p.Glu42Val)
n.290A>T
c.1211A>T (p.Glu404Val)
c.1139A>T (p.Glu380Val)
c.1085A>T (p.Glu362Val)
c.1004A>T (p.Glu335Val)
c.947A>T (p.Glu316Val)
n.1226A>T
16g.2117835T>CCA394393073PKD1c.1157A>G (p.Glu386Gly)
c.244A>G
c.125A>G (p.Glu42Gly)
n.290A>G
c.1211A>G (p.Glu404Gly)
c.1139A>G (p.Glu380Gly)
c.1085A>G (p.Glu362Gly)
c.1004A>G (p.Glu335Gly)
c.947A>G (p.Glu316Gly)
n.1226A>G
 gnomAD v4
16g.2117835T>GCA394393074PKD1c.1157A>C (p.Glu386Ala)
c.244A>C
c.125A>C (p.Glu42Ala)
n.290A>C
c.1211A>C (p.Glu404Ala)
c.1139A>C (p.Glu380Ala)
c.1085A>C (p.Glu362Ala)
c.1004A>C (p.Glu335Ala)
c.947A>C (p.Glu316Ala)
n.1226A>C
16g.2117836C>ACA394393076PKD1c.1156G>T (p.Glu386Ter)
c.243G>T
c.124G>T (p.Glu42Ter)
n.289G>T
c.1210G>T (p.Glu404Ter)
c.1138G>T (p.Glu380Ter)
c.1084G>T (p.Glu362Ter)
c.1003G>T (p.Glu335Ter)
c.946G>T (p.Glu316Ter)
n.1225G>T
16g.2117836C=CA2202051932PKD1c.1156G= (p.Glu386=)
c.243G=
c.124G= (p.Glu42=)
n.289G=
c.1210G= (p.Glu404=)
c.1138G= (p.Glu380=)
c.1084G= (p.Glu362=)
c.1003G= (p.Glu335=)
c.946G= (p.Glu316=)
n.1225G=
16g.2117836C>GCA394393077PKD1c.1156G>C (p.Glu386Gln)
c.243G>C
c.124G>C (p.Glu42Gln)
n.289G>C
c.1210G>C (p.Glu404Gln)
c.1138G>C (p.Glu380Gln)
c.1084G>C (p.Glu362Gln)
c.1003G>C (p.Glu335Gln)
c.946G>C (p.Glu316Gln)
n.1225G>C
 gnomAD v4
16g.2117836C>TCA394393078PKD1c.1156G>A (p.Glu386Lys)
c.243G>A
c.124G>A (p.Glu42Lys)
n.289G>A
c.1210G>A (p.Glu404Lys)
c.1138G>A (p.Glu380Lys)
c.1084G>A (p.Glu362Lys)
c.1003G>A (p.Glu335Lys)
c.946G>A (p.Glu316Lys)
n.1225G>A
 dbSNP gnomAD v4
16g.2117837C>ACA493050208PKD1c.1155G>T (p.Leu385=)
c.242G>T
c.123G>T (p.Leu41=)
n.288G>T
c.1209G>T (p.Leu403=)
c.1137G>T (p.Leu379=)
c.1083G>T (p.Leu361=)
c.1002G>T (p.Leu334=)
c.945G>T (p.Leu315=)
n.1224G>T

Number of alleles fetched