Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.2117837C>GCA493050209PKD1c.1155G>C (p.Leu385=)
c.242G>C
c.123G>C (p.Leu41=)
n.288G>C
c.1209G>C (p.Leu403=)
c.1137G>C (p.Leu379=)
c.1083G>C (p.Leu361=)
c.1002G>C (p.Leu334=)
c.945G>C (p.Leu315=)
n.1224G>C
16g.2117837C>TCA493050210PKD1c.1155G>A (p.Leu385=)
c.242G>A
c.123G>A (p.Leu41=)
n.288G>A
c.1209G>A (p.Leu403=)
c.1137G>A (p.Leu379=)
c.1083G>A (p.Leu361=)
c.1002G>A (p.Leu334=)
c.945G>A (p.Leu315=)
n.1224G>A
16g.2117838A=CA2202051933PKD1c.1154T= (p.Leu385=)
c.241T=
c.122T= (p.Leu41=)
n.287T=
c.1208T= (p.Leu403=)
c.1136T= (p.Leu379=)
c.1082T= (p.Leu361=)
c.1001T= (p.Leu334=)
c.944T= (p.Leu315=)
n.1223T=
16g.2117838A>CCA394393083PKD1c.1154T>G (p.Leu385Arg)
c.241T>G
c.122T>G (p.Leu41Arg)
n.287T>G
c.1208T>G (p.Leu403Arg)
c.1136T>G (p.Leu379Arg)
c.1082T>G (p.Leu361Arg)
c.1001T>G (p.Leu334Arg)
c.944T>G (p.Leu315Arg)
n.1223T>G
16g.2117838A>GCA394393080PKD1c.1154T>C (p.Leu385Pro)
c.241T>C
c.122T>C (p.Leu41Pro)
n.287T>C
c.1208T>C (p.Leu403Pro)
c.1136T>C (p.Leu379Pro)
c.1082T>C (p.Leu361Pro)
c.1001T>C (p.Leu334Pro)
c.944T>C (p.Leu315Pro)
n.1223T>C
 ClinVar dbSNP
16g.2117838A>TCA394393081PKD1c.1154T>A (p.Leu385Gln)
c.241T>A
c.122T>A (p.Leu41Gln)
n.287T>A
c.1208T>A (p.Leu403Gln)
c.1136T>A (p.Leu379Gln)
c.1082T>A (p.Leu361Gln)
c.1001T>A (p.Leu334Gln)
c.944T>A (p.Leu315Gln)
n.1223T>A
16g.2117839G>ACA493050211PKD1c.1153C>T (p.Leu385=)
c.240C>T
c.121C>T (p.Leu41=)
n.286C>T
c.1207C>T (p.Leu403=)
c.1135C>T (p.Leu379=)
c.1081C>T (p.Leu361=)
c.1000C>T (p.Leu334=)
c.943C>T (p.Leu315=)
n.1222C>T
 dbSNP
16g.2117839G>CCA394393084PKD1c.1153C>G (p.Leu385Val)
c.240C>G
c.121C>G (p.Leu41Val)
n.286C>G
c.1207C>G (p.Leu403Val)
c.1135C>G (p.Leu379Val)
c.1081C>G (p.Leu361Val)
c.1000C>G (p.Leu334Val)
c.943C>G (p.Leu315Val)
n.1222C>G
 dbSNP gnomAD v4
16g.2117839G=CA2202051934PKD1c.1153C= (p.Leu385=)
c.240C=
c.121C= (p.Leu41=)
n.286C=
c.1207C= (p.Leu403=)
c.1135C= (p.Leu379=)
c.1081C= (p.Leu361=)
c.1000C= (p.Leu334=)
c.943C= (p.Leu315=)
n.1222C=
16g.2117839G>TCA394393086PKD1c.1153C>A (p.Leu385Met)
c.240C>A
c.121C>A (p.Leu41Met)
n.286C>A
c.1207C>A (p.Leu403Met)
c.1135C>A (p.Leu379Met)
c.1081C>A (p.Leu361Met)
c.1000C>A (p.Leu334Met)
c.943C>A (p.Leu315Met)
n.1222C>A
16g.2117840G>ACA493050212PKD1c.1152C>T (p.Gly384=)
c.239C>T
c.120C>T (p.Gly40=)
n.285C>T
c.1206C>T (p.Gly402=)
c.1134C>T (p.Gly378=)
c.1080C>T (p.Gly360=)
c.999C>T (p.Gly333=)
c.942C>T (p.Gly314=)
n.1221C>T
16g.2117840G>CCA493050213PKD1c.1152C>G (p.Gly384=)
c.239C>G
c.120C>G (p.Gly40=)
n.285C>G
c.1206C>G (p.Gly402=)
c.1134C>G (p.Gly378=)
c.1080C>G (p.Gly360=)
c.999C>G (p.Gly333=)
c.942C>G (p.Gly314=)
n.1221C>G
16g.2117840G>TCA493050214PKD1c.1152C>A (p.Gly384=)
c.239C>A
c.120C>A (p.Gly40=)
n.285C>A
c.1206C>A (p.Gly402=)
c.1134C>A (p.Gly378=)
c.1080C>A (p.Gly360=)
c.999C>A (p.Gly333=)
c.942C>A (p.Gly314=)
n.1221C>A
 gnomAD v4
16g.2117841C>ACA394393087PKD1c.1151G>T (p.Gly384Val)
c.238G>T
c.119G>T (p.Gly40Val)
n.284G>T
c.1205G>T (p.Gly402Val)
c.1133G>T (p.Gly378Val)
c.1079G>T (p.Gly360Val)
c.998G>T (p.Gly333Val)
c.941G>T (p.Gly314Val)
n.1220G>T
16g.2117841C=CA2202051935PKD1c.1151G= (p.Gly384=)
c.238G=
c.119G= (p.Gly40=)
n.284G=
c.1205G= (p.Gly402=)
c.1133G= (p.Gly378=)
c.1079G= (p.Gly360=)
c.998G= (p.Gly333=)
c.941G= (p.Gly314=)
n.1220G=
16g.2117841C>GCA394393088PKD1c.1151G>C (p.Gly384Ala)
c.238G>C
c.119G>C (p.Gly40Ala)
n.284G>C
c.1205G>C (p.Gly402Ala)
c.1133G>C (p.Gly378Ala)
c.1079G>C (p.Gly360Ala)
c.998G>C (p.Gly333Ala)
c.941G>C (p.Gly314Ala)
n.1220G>C
 dbSNP
16g.2117841C>TCA276783400PKD1c.1151G>A (p.Gly384Asp)
c.238G>A
c.119G>A (p.Gly40Asp)
n.284G>A
c.1205G>A (p.Gly402Asp)
c.1133G>A (p.Gly378Asp)
c.1079G>A (p.Gly360Asp)
c.998G>A (p.Gly333Asp)
c.941G>A (p.Gly314Asp)
n.1220G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2117842C>ACA394393092PKD1c.1150G>T (p.Gly384Cys)
c.237G>T
c.118G>T (p.Gly40Cys)
n.283G>T
c.1204G>T (p.Gly402Cys)
c.1132G>T (p.Gly378Cys)
c.1078G>T (p.Gly360Cys)
c.997G>T (p.Gly333Cys)
c.940G>T (p.Gly314Cys)
n.1219G>T
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched