Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2111624A=CA2202047720PKD1c.3543T= (p.Tyr1181=)
n.310+716T=
n.430+716T=
n.493T=
c.233+192T=
n.790+716T=
c.473-3266T=
n.773+716T=
c.2226+716T= (n.2226+716T=)
n.421+716T=
c.498T= (p.Tyr166=)
c.3621T= (p.Tyr1207=)
c.3597T= (p.Tyr1199=)
c.3567T= (p.Tyr1189=)
c.3549T= (p.Tyr1183=)
c.3495T= (p.Tyr1165=)
c.3414T= (p.Tyr1138=)
c.3357T= (p.Tyr1119=)
c.1443T= (p.Tyr481=)
c.621T= (p.Tyr207=)
n.3636T=
c.3663T= (p.Tyr1221=)
c.3591T= (p.Tyr1197=)
c.3453T= (p.Tyr1151=)
c.1539T= (p.Tyr513=)
16g.2111624A>CCA394382889PKD1c.3543T>G (p.Tyr1181Ter)
n.310+716T>G
n.430+716T>G
n.493T>G
c.233+192T>G
n.790+716T>G
c.473-3266T>G
n.773+716T>G
c.2226+716T>G (n.2226+716T>G)
n.421+716T>G
c.498T>G (p.Tyr166Ter)
c.3621T>G (p.Tyr1207Ter)
c.3597T>G (p.Tyr1199Ter)
c.3567T>G (p.Tyr1189Ter)
c.3549T>G (p.Tyr1183Ter)
c.3495T>G (p.Tyr1165Ter)
c.3414T>G (p.Tyr1138Ter)
c.3357T>G (p.Tyr1119Ter)
c.1443T>G (p.Tyr481Ter)
c.621T>G (p.Tyr207Ter)
n.3636T>G
c.3663T>G (p.Tyr1221Ter)
c.3591T>G (p.Tyr1197Ter)
c.3453T>G (p.Tyr1151Ter)
c.1539T>G (p.Tyr513Ter)
16g.2111624A>GCA493049617PKD1c.3543T>C (p.Tyr1181=)
n.310+716T>C
n.430+716T>C
n.493T>C
c.233+192T>C
n.790+716T>C
c.473-3266T>C
n.773+716T>C
c.2226+716T>C (n.2226+716T>C)
n.421+716T>C
c.498T>C (p.Tyr166=)
c.3621T>C (p.Tyr1207=)
c.3597T>C (p.Tyr1199=)
c.3567T>C (p.Tyr1189=)
c.3549T>C (p.Tyr1183=)
c.3495T>C (p.Tyr1165=)
c.3414T>C (p.Tyr1138=)
c.3357T>C (p.Tyr1119=)
c.1443T>C (p.Tyr481=)
c.621T>C (p.Tyr207=)
n.3636T>C
c.3663T>C (p.Tyr1221=)
c.3591T>C (p.Tyr1197=)
c.3453T>C (p.Tyr1151=)
c.1539T>C (p.Tyr513=)
 gnomAD v4
16g.2111624A>TCA10654923PKD1c.3543T>A (p.Tyr1181Ter)
n.310+716T>A
n.430+716T>A
n.493T>A
c.233+192T>A
n.790+716T>A
c.473-3266T>A
n.773+716T>A
c.2226+716T>A (n.2226+716T>A)
n.421+716T>A
c.498T>A (p.Tyr166Ter)
c.3621T>A (p.Tyr1207Ter)
c.3597T>A (p.Tyr1199Ter)
c.3567T>A (p.Tyr1189Ter)
c.3549T>A (p.Tyr1183Ter)
c.3495T>A (p.Tyr1165Ter)
c.3414T>A (p.Tyr1138Ter)
c.3357T>A (p.Tyr1119Ter)
c.1443T>A (p.Tyr481Ter)
c.621T>A (p.Tyr207Ter)
n.3636T>A
c.3663T>A (p.Tyr1221Ter)
c.3591T>A (p.Tyr1197Ter)
c.3453T>A (p.Tyr1151Ter)
c.1539T>A (p.Tyr513Ter)
 ClinVar dbSNP gnomAD v4
16g.2111625T>ACA394382890PKD1c.3542A>T (p.Tyr1181Phe)
n.310+715A>T
n.430+715A>T
n.492A>T
c.233+191A>T
n.790+715A>T
c.473-3267A>T
n.773+715A>T
c.2226+715A>T (n.2226+715A>T)
n.421+715A>T
c.497A>T (p.Tyr166Phe)
c.3620A>T (p.Tyr1207Phe)
c.3596A>T (p.Tyr1199Phe)
c.3566A>T (p.Tyr1189Phe)
c.3548A>T (p.Tyr1183Phe)
c.3494A>T (p.Tyr1165Phe)
c.3413A>T (p.Tyr1138Phe)
c.3356A>T (p.Tyr1119Phe)
c.1442A>T (p.Tyr481Phe)
c.620A>T (p.Tyr207Phe)
n.3635A>T
c.3662A>T (p.Tyr1221Phe)
c.3590A>T (p.Tyr1197Phe)
c.3452A>T (p.Tyr1151Phe)
c.1538A>T (p.Tyr513Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111625T>CCA394382891PKD1c.3542A>G (p.Tyr1181Cys)
n.310+715A>G
n.430+715A>G
n.492A>G
c.233+191A>G
n.790+715A>G
c.473-3267A>G
n.773+715A>G
c.2226+715A>G (n.2226+715A>G)
n.421+715A>G
c.497A>G (p.Tyr166Cys)
c.3620A>G (p.Tyr1207Cys)
c.3596A>G (p.Tyr1199Cys)
c.3566A>G (p.Tyr1189Cys)
c.3548A>G (p.Tyr1183Cys)
c.3494A>G (p.Tyr1165Cys)
c.3413A>G (p.Tyr1138Cys)
c.3356A>G (p.Tyr1119Cys)
c.1442A>G (p.Tyr481Cys)
c.620A>G (p.Tyr207Cys)
n.3635A>G
c.3662A>G (p.Tyr1221Cys)
c.3590A>G (p.Tyr1197Cys)
c.3452A>G (p.Tyr1151Cys)
c.1538A>G (p.Tyr513Cys)
 ClinVar dbSNP gnomAD v2
16g.2111625T>GCA394382892PKD1c.3542A>C (p.Tyr1181Ser)
n.310+715A>C
n.430+715A>C
n.492A>C
c.233+191A>C
n.790+715A>C
c.473-3267A>C
n.773+715A>C
c.2226+715A>C (n.2226+715A>C)
n.421+715A>C
c.497A>C (p.Tyr166Ser)
c.3620A>C (p.Tyr1207Ser)
c.3596A>C (p.Tyr1199Ser)
c.3566A>C (p.Tyr1189Ser)
c.3548A>C (p.Tyr1183Ser)
c.3494A>C (p.Tyr1165Ser)
c.3413A>C (p.Tyr1138Ser)
c.3356A>C (p.Tyr1119Ser)
c.1442A>C (p.Tyr481Ser)
c.620A>C (p.Tyr207Ser)
n.3635A>C
c.3662A>C (p.Tyr1221Ser)
c.3590A>C (p.Tyr1197Ser)
c.3452A>C (p.Tyr1151Ser)
c.1538A>C (p.Tyr513Ser)
16g.2111625T=CA2202047721PKD1c.3542A= (p.Tyr1181=)
n.310+715A=
n.430+715A=
n.492A=
c.233+191A=
n.790+715A=
c.473-3267A=
n.773+715A=
c.2226+715A= (n.2226+715A=)
n.421+715A=
c.497A= (p.Tyr166=)
c.3620A= (p.Tyr1207=)
c.3596A= (p.Tyr1199=)
c.3566A= (p.Tyr1189=)
c.3548A= (p.Tyr1183=)
c.3494A= (p.Tyr1165=)
c.3413A= (p.Tyr1138=)
c.3356A= (p.Tyr1119=)
c.1442A= (p.Tyr481=)
c.620A= (p.Tyr207=)
n.3635A=
c.3662A= (p.Tyr1221=)
c.3590A= (p.Tyr1197=)
c.3452A= (p.Tyr1151=)
c.1538A= (p.Tyr513=)
16g.2111626A>CCA394382893PKD1c.3541T>G (p.Tyr1181Asp)
n.310+714T>G
n.430+714T>G
n.491T>G
c.233+190T>G
n.790+714T>G
c.473-3268T>G
n.773+714T>G
c.2226+714T>G (n.2226+714T>G)
n.421+714T>G
c.496T>G (p.Tyr166Asp)
c.3619T>G (p.Tyr1207Asp)
c.3595T>G (p.Tyr1199Asp)
c.3565T>G (p.Tyr1189Asp)
c.3547T>G (p.Tyr1183Asp)
c.3493T>G (p.Tyr1165Asp)
c.3412T>G (p.Tyr1138Asp)
c.3355T>G (p.Tyr1119Asp)
c.1441T>G (p.Tyr481Asp)
c.619T>G (p.Tyr207Asp)
n.3634T>G
c.3661T>G (p.Tyr1221Asp)
c.3589T>G (p.Tyr1197Asp)
c.3451T>G (p.Tyr1151Asp)
c.1537T>G (p.Tyr513Asp)
16g.2111626A>GCA394382894PKD1c.3541T>C (p.Tyr1181His)
n.310+714T>C
n.430+714T>C
n.491T>C
c.233+190T>C
n.790+714T>C
c.473-3268T>C
n.773+714T>C
c.2226+714T>C (n.2226+714T>C)
n.421+714T>C
c.496T>C (p.Tyr166His)
c.3619T>C (p.Tyr1207His)
c.3595T>C (p.Tyr1199His)
c.3565T>C (p.Tyr1189His)
c.3547T>C (p.Tyr1183His)
c.3493T>C (p.Tyr1165His)
c.3412T>C (p.Tyr1138His)
c.3355T>C (p.Tyr1119His)
c.1441T>C (p.Tyr481His)
c.619T>C (p.Tyr207His)
n.3634T>C
c.3661T>C (p.Tyr1221His)
c.3589T>C (p.Tyr1197His)
c.3451T>C (p.Tyr1151His)
c.1537T>C (p.Tyr513His)
 gnomAD v4
16g.2111626A>TCA394382895PKD1c.3541T>A (p.Tyr1181Asn)
n.310+714T>A
n.430+714T>A
n.491T>A
c.233+190T>A
n.790+714T>A
c.473-3268T>A
n.773+714T>A
c.2226+714T>A (n.2226+714T>A)
n.421+714T>A
c.496T>A (p.Tyr166Asn)
c.3619T>A (p.Tyr1207Asn)
c.3595T>A (p.Tyr1199Asn)
c.3565T>A (p.Tyr1189Asn)
c.3547T>A (p.Tyr1183Asn)
c.3493T>A (p.Tyr1165Asn)
c.3412T>A (p.Tyr1138Asn)
c.3355T>A (p.Tyr1119Asn)
c.1441T>A (p.Tyr481Asn)
c.619T>A (p.Tyr207Asn)
n.3634T>A
c.3661T>A (p.Tyr1221Asn)
c.3589T>A (p.Tyr1197Asn)
c.3451T>A (p.Tyr1151Asn)
c.1537T>A (p.Tyr513Asn)
 gnomAD v4
16g.2111627G>ACA7832733PKD1c.3540C>T (p.Thr1180=)
n.310+713C>T
n.430+713C>T
n.490C>T
c.233+189C>T
n.790+713C>T
c.473-3269C>T
n.773+713C>T
c.2226+713C>T (n.2226+713C>T)
n.421+713C>T
c.495C>T (p.Thr165=)
c.3618C>T (p.Thr1206=)
c.3594C>T (p.Thr1198=)
c.3564C>T (p.Thr1188=)
c.3546C>T (p.Thr1182=)
c.3492C>T (p.Thr1164=)
c.3411C>T (p.Thr1137=)
c.3354C>T (p.Thr1118=)
c.1440C>T (p.Thr480=)
c.618C>T (p.Thr206=)
n.3633C>T
c.3660C>T (p.Thr1220=)
c.3588C>T (p.Thr1196=)
c.3450C>T (p.Thr1150=)
c.1536C>T (p.Thr512=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111627G>CCA493049636PKD1c.3540C>G (p.Thr1180=)
n.310+713C>G
n.430+713C>G
n.490C>G
c.233+189C>G
n.790+713C>G
c.473-3269C>G
n.773+713C>G
c.2226+713C>G (n.2226+713C>G)
n.421+713C>G
c.495C>G (p.Thr165=)
c.3618C>G (p.Thr1206=)
c.3594C>G (p.Thr1198=)
c.3564C>G (p.Thr1188=)
c.3546C>G (p.Thr1182=)
c.3492C>G (p.Thr1164=)
c.3411C>G (p.Thr1137=)
c.3354C>G (p.Thr1118=)
c.1440C>G (p.Thr480=)
c.618C>G (p.Thr206=)
n.3633C>G
c.3660C>G (p.Thr1220=)
c.3588C>G (p.Thr1196=)
c.3450C>G (p.Thr1150=)
c.1536C>G (p.Thr512=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111627G=CA2202047722PKD1c.3540C= (p.Thr1180=)
n.310+713C=
n.430+713C=
n.490C=
c.233+189C=
n.790+713C=
c.473-3269C=
n.773+713C=
c.2226+713C= (n.2226+713C=)
n.421+713C=
c.495C= (p.Thr165=)
c.3618C= (p.Thr1206=)
c.3594C= (p.Thr1198=)
c.3564C= (p.Thr1188=)
c.3546C= (p.Thr1182=)
c.3492C= (p.Thr1164=)
c.3411C= (p.Thr1137=)
c.3354C= (p.Thr1118=)
c.1440C= (p.Thr480=)
c.618C= (p.Thr206=)
n.3633C=
c.3660C= (p.Thr1220=)
c.3588C= (p.Thr1196=)
c.3450C= (p.Thr1150=)
c.1536C= (p.Thr512=)
16g.2111627G>TCA493049633PKD1c.3540C>A (p.Thr1180=)
n.310+713C>A
n.430+713C>A
n.490C>A
c.233+189C>A
n.790+713C>A
c.473-3269C>A
n.773+713C>A
c.2226+713C>A (n.2226+713C>A)
n.421+713C>A
c.495C>A (p.Thr165=)
c.3618C>A (p.Thr1206=)
c.3594C>A (p.Thr1198=)
c.3564C>A (p.Thr1188=)
c.3546C>A (p.Thr1182=)
c.3492C>A (p.Thr1164=)
c.3411C>A (p.Thr1137=)
c.3354C>A (p.Thr1118=)
c.1440C>A (p.Thr480=)
c.618C>A (p.Thr206=)
n.3633C>A
c.3660C>A (p.Thr1220=)
c.3588C>A (p.Thr1196=)
c.3450C>A (p.Thr1150=)
c.1536C>A (p.Thr512=)
 gnomAD v4
16g.2111628G>ACA394382896PKD1c.3539C>T (p.Thr1180Ile)
n.310+712C>T
n.430+712C>T
n.489C>T
c.233+188C>T
n.790+712C>T
c.473-3270C>T
n.773+712C>T
c.2226+712C>T (n.2226+712C>T)
n.421+712C>T
c.494C>T (p.Thr165Ile)
c.3617C>T (p.Thr1206Ile)
c.3593C>T (p.Thr1198Ile)
c.3563C>T (p.Thr1188Ile)
c.3545C>T (p.Thr1182Ile)
c.3491C>T (p.Thr1164Ile)
c.3410C>T (p.Thr1137Ile)
c.3353C>T (p.Thr1118Ile)
c.1439C>T (p.Thr480Ile)
c.617C>T (p.Thr206Ile)
n.3632C>T
c.3659C>T (p.Thr1220Ile)
c.3587C>T (p.Thr1196Ile)
c.3449C>T (p.Thr1150Ile)
c.1535C>T (p.Thr512Ile)
 gnomAD v4
16g.2111628G>CCA394382898PKD1c.3539C>G (p.Thr1180Ser)
n.310+712C>G
n.430+712C>G
n.489C>G
c.233+188C>G
n.790+712C>G
c.473-3270C>G
n.773+712C>G
c.2226+712C>G (n.2226+712C>G)
n.421+712C>G
c.494C>G (p.Thr165Ser)
c.3617C>G (p.Thr1206Ser)
c.3593C>G (p.Thr1198Ser)
c.3563C>G (p.Thr1188Ser)
c.3545C>G (p.Thr1182Ser)
c.3491C>G (p.Thr1164Ser)
c.3410C>G (p.Thr1137Ser)
c.3353C>G (p.Thr1118Ser)
c.1439C>G (p.Thr480Ser)
c.617C>G (p.Thr206Ser)
n.3632C>G
c.3659C>G (p.Thr1220Ser)
c.3587C>G (p.Thr1196Ser)
c.3449C>G (p.Thr1150Ser)
c.1535C>G (p.Thr512Ser)
 dbSNP
16g.2111628G=CA2202047723PKD1c.3539C= (p.Thr1180=)
n.310+712C=
n.430+712C=
n.489C=
c.233+188C=
n.790+712C=
c.473-3270C=
n.773+712C=
c.2226+712C= (n.2226+712C=)
n.421+712C=
c.494C= (p.Thr165=)
c.3617C= (p.Thr1206=)
c.3593C= (p.Thr1198=)
c.3563C= (p.Thr1188=)
c.3545C= (p.Thr1182=)
c.3491C= (p.Thr1164=)
c.3410C= (p.Thr1137=)
c.3353C= (p.Thr1118=)
c.1439C= (p.Thr480=)
c.617C= (p.Thr206=)
n.3632C=
c.3659C= (p.Thr1220=)
c.3587C= (p.Thr1196=)
c.3449C= (p.Thr1150=)
c.1535C= (p.Thr512=)
16g.2111628G>TCA394382897PKD1c.3539C>A (p.Thr1180Asn)
n.310+712C>A
n.430+712C>A
n.489C>A
c.233+188C>A
n.790+712C>A
c.473-3270C>A
n.773+712C>A
c.2226+712C>A (n.2226+712C>A)
n.421+712C>A
c.494C>A (p.Thr165Asn)
c.3617C>A (p.Thr1206Asn)
c.3593C>A (p.Thr1198Asn)
c.3563C>A (p.Thr1188Asn)
c.3545C>A (p.Thr1182Asn)
c.3491C>A (p.Thr1164Asn)
c.3410C>A (p.Thr1137Asn)
c.3353C>A (p.Thr1118Asn)
c.1439C>A (p.Thr480Asn)
c.617C>A (p.Thr206Asn)
n.3632C>A
c.3659C>A (p.Thr1220Asn)
c.3587C>A (p.Thr1196Asn)
c.3449C>A (p.Thr1150Asn)
c.1535C>A (p.Thr512Asn)
 gnomAD v4
16g.2111631_2111632dupCA2695222483PKD1c.3538_3539dup (p.Tyr1181ProfsTer18)
n.310+711_310+712dup
n.430+711_430+712dup
n.488_489dup
c.233+187_233+188dup
n.790+711_790+712dup
c.473-3271_473-3270dup
n.773+711_773+712dup
c.2226+711_2226+712dup (n.2226+711_2226+712dup)
n.421+711_421+712dup
c.493_494dup (p.Tyr166ProfsTer18)
c.3616_3617dup (p.Tyr1207ProfsTer18)
c.3592_3593dup (p.Tyr1199ProfsTer18)
c.3562_3563dup (p.Tyr1189ProfsTer18)
c.3544_3545dup (p.Tyr1183ProfsTer18)
c.3490_3491dup (p.Tyr1165ProfsTer18)
c.3409_3410dup (p.Tyr1138ProfsTer18)
c.3352_3353dup (p.Tyr1119ProfsTer18)
c.1438_1439dup (p.Tyr481ProfsTer18)
c.616_617dup (p.Tyr207ProfsTer18)
n.3631_3632dup
c.3658_3659dup (p.Tyr1221ProfsTer18)
c.3586_3587dup (p.Tyr1197ProfsTer18)
c.3448_3449dup (p.Tyr1151ProfsTer18)
c.1534_1535dup (p.Tyr513ProfsTer18)
16g.2111629T>ACA394382899PKD1c.3538A>T (p.Thr1180Ser)
n.310+711A>T
n.430+711A>T
n.488A>T
c.233+187A>T
n.790+711A>T
c.473-3271A>T
n.773+711A>T
c.2226+711A>T (n.2226+711A>T)
n.421+711A>T
c.493A>T (p.Thr165Ser)
c.3616A>T (p.Thr1206Ser)
c.3592A>T (p.Thr1198Ser)
c.3562A>T (p.Thr1188Ser)
c.3544A>T (p.Thr1182Ser)
c.3490A>T (p.Thr1164Ser)
c.3409A>T (p.Thr1137Ser)
c.3352A>T (p.Thr1118Ser)
c.1438A>T (p.Thr480Ser)
c.616A>T (p.Thr206Ser)
n.3631A>T
c.3658A>T (p.Thr1220Ser)
c.3586A>T (p.Thr1196Ser)
c.3448A>T (p.Thr1150Ser)
c.1534A>T (p.Thr512Ser)
16g.2111629T>CCA394382900PKD1c.3538A>G (p.Thr1180Ala)
n.310+711A>G
n.430+711A>G
n.488A>G
c.233+187A>G
n.790+711A>G
c.473-3271A>G
n.773+711A>G
c.2226+711A>G (n.2226+711A>G)
n.421+711A>G
c.493A>G (p.Thr165Ala)
c.3616A>G (p.Thr1206Ala)
c.3592A>G (p.Thr1198Ala)
c.3562A>G (p.Thr1188Ala)
c.3544A>G (p.Thr1182Ala)
c.3490A>G (p.Thr1164Ala)
c.3409A>G (p.Thr1137Ala)
c.3352A>G (p.Thr1118Ala)
c.1438A>G (p.Thr480Ala)
c.616A>G (p.Thr206Ala)
n.3631A>G
c.3658A>G (p.Thr1220Ala)
c.3586A>G (p.Thr1196Ala)
c.3448A>G (p.Thr1150Ala)
c.1534A>G (p.Thr512Ala)
 gnomAD v4
16g.2111629T>GCA394382901PKD1c.3538A>C (p.Thr1180Pro)
n.310+711A>C
n.430+711A>C
n.488A>C
c.233+187A>C
n.790+711A>C
c.473-3271A>C
n.773+711A>C
c.2226+711A>C (n.2226+711A>C)
n.421+711A>C
c.493A>C (p.Thr165Pro)
c.3616A>C (p.Thr1206Pro)
c.3592A>C (p.Thr1198Pro)
c.3562A>C (p.Thr1188Pro)
c.3544A>C (p.Thr1182Pro)
c.3490A>C (p.Thr1164Pro)
c.3409A>C (p.Thr1137Pro)
c.3352A>C (p.Thr1118Pro)
c.1438A>C (p.Thr480Pro)
c.616A>C (p.Thr206Pro)
n.3631A>C
c.3658A>C (p.Thr1220Pro)
c.3586A>C (p.Thr1196Pro)
c.3448A>C (p.Thr1150Pro)
c.1534A>C (p.Thr512Pro)
16g.2111630G>ACA493049648PKD1c.3537C>T (p.His1179=)
n.310+710C>T
n.430+710C>T
n.487C>T
c.233+186C>T
n.790+710C>T
c.473-3272C>T
n.773+710C>T
c.2226+710C>T (n.2226+710C>T)
n.421+710C>T
c.492C>T (p.His164=)
c.3615C>T (p.His1205=)
c.3591C>T (p.His1197=)
c.3561C>T (p.His1187=)
c.3543C>T (p.His1181=)
c.3489C>T (p.His1163=)
c.3408C>T (p.His1136=)
c.3351C>T (p.His1117=)
c.1437C>T (p.His479=)
c.615C>T (p.His205=)
n.3630C>T
c.3657C>T (p.His1219=)
c.3585C>T (p.His1195=)
c.3447C>T (p.His1149=)
c.1533C>T (p.His511=)
 dbSNP gnomAD v2 gnomAD v4
16g.2111630G>CCA394382902PKD1c.3537C>G (p.His1179Gln)
n.310+710C>G
n.430+710C>G
n.487C>G
c.233+186C>G
n.790+710C>G
c.473-3272C>G
n.773+710C>G
c.2226+710C>G (n.2226+710C>G)
n.421+710C>G
c.492C>G (p.His164Gln)
c.3615C>G (p.His1205Gln)
c.3591C>G (p.His1197Gln)
c.3561C>G (p.His1187Gln)
c.3543C>G (p.His1181Gln)
c.3489C>G (p.His1163Gln)
c.3408C>G (p.His1136Gln)
c.3351C>G (p.His1117Gln)
c.1437C>G (p.His479Gln)
c.615C>G (p.His205Gln)
n.3630C>G
c.3657C>G (p.His1219Gln)
c.3585C>G (p.His1195Gln)
c.3447C>G (p.His1149Gln)
c.1533C>G (p.His511Gln)
16g.2111630G=CA2202047724PKD1c.3537C= (p.His1179=)
n.310+710C=
n.430+710C=
n.487C=
c.233+186C=
n.790+710C=
c.473-3272C=
n.773+710C=
c.2226+710C= (n.2226+710C=)
n.421+710C=
c.492C= (p.His164=)
c.3615C= (p.His1205=)
c.3591C= (p.His1197=)
c.3561C= (p.His1187=)
c.3543C= (p.His1181=)
c.3489C= (p.His1163=)
c.3408C= (p.His1136=)
c.3351C= (p.His1117=)
c.1437C= (p.His479=)
c.615C= (p.His205=)
n.3630C=
c.3657C= (p.His1219=)
c.3585C= (p.His1195=)
c.3447C= (p.His1149=)
c.1533C= (p.His511=)
16g.2111630G>TCA394382903PKD1c.3537C>A (p.His1179Gln)
n.310+710C>A
n.430+710C>A
n.487C>A
c.233+186C>A
n.790+710C>A
c.473-3272C>A
n.773+710C>A
c.2226+710C>A (n.2226+710C>A)
n.421+710C>A
c.492C>A (p.His164Gln)
c.3615C>A (p.His1205Gln)
c.3591C>A (p.His1197Gln)
c.3561C>A (p.His1187Gln)
c.3543C>A (p.His1181Gln)
c.3489C>A (p.His1163Gln)
c.3408C>A (p.His1136Gln)
c.3351C>A (p.His1117Gln)
c.1437C>A (p.His479Gln)
c.615C>A (p.His205Gln)
n.3630C>A
c.3657C>A (p.His1219Gln)
c.3585C>A (p.His1195Gln)
c.3447C>A (p.His1149Gln)
c.1533C>A (p.His511Gln)
16g.2111631T>ACA394382906PKD1c.3536A>T (p.His1179Leu)
n.310+709A>T
n.430+709A>T
n.486A>T
c.233+185A>T
n.790+709A>T
c.473-3273A>T
n.773+709A>T
c.2226+709A>T (n.2226+709A>T)
n.421+709A>T
c.491A>T (p.His164Leu)
c.3614A>T (p.His1205Leu)
c.3590A>T (p.His1197Leu)
c.3560A>T (p.His1187Leu)
c.3542A>T (p.His1181Leu)
c.3488A>T (p.His1163Leu)
c.3407A>T (p.His1136Leu)
c.3350A>T (p.His1117Leu)
c.1436A>T (p.His479Leu)
c.614A>T (p.His205Leu)
n.3629A>T
c.3656A>T (p.His1219Leu)
c.3584A>T (p.His1195Leu)
c.3446A>T (p.His1149Leu)
c.1532A>T (p.His511Leu)
16g.2111631T>CCA394382905PKD1c.3536A>G (p.His1179Arg)
n.310+709A>G
n.430+709A>G
n.486A>G
c.233+185A>G
n.790+709A>G
c.473-3273A>G
n.773+709A>G
c.2226+709A>G (n.2226+709A>G)
n.421+709A>G
c.491A>G (p.His164Arg)
c.3614A>G (p.His1205Arg)
c.3590A>G (p.His1197Arg)
c.3560A>G (p.His1187Arg)
c.3542A>G (p.His1181Arg)
c.3488A>G (p.His1163Arg)
c.3407A>G (p.His1136Arg)
c.3350A>G (p.His1117Arg)
c.1436A>G (p.His479Arg)
c.614A>G (p.His205Arg)
n.3629A>G
c.3656A>G (p.His1219Arg)
c.3584A>G (p.His1195Arg)
c.3446A>G (p.His1149Arg)
c.1532A>G (p.His511Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.2111631T>GCA394382904PKD1c.3536A>C (p.His1179Pro)
n.310+709A>C
n.430+709A>C
n.486A>C
c.233+185A>C
n.790+709A>C
c.473-3273A>C
n.773+709A>C
c.2226+709A>C (n.2226+709A>C)
n.421+709A>C
c.491A>C (p.His164Pro)
c.3614A>C (p.His1205Pro)
c.3590A>C (p.His1197Pro)
c.3560A>C (p.His1187Pro)
c.3542A>C (p.His1181Pro)
c.3488A>C (p.His1163Pro)
c.3407A>C (p.His1136Pro)
c.3350A>C (p.His1117Pro)
c.1436A>C (p.His479Pro)
c.614A>C (p.His205Pro)
n.3629A>C
c.3656A>C (p.His1219Pro)
c.3584A>C (p.His1195Pro)
c.3446A>C (p.His1149Pro)
c.1532A>C (p.His511Pro)
16g.2111631T=CA2202047725PKD1c.3536A= (p.His1179=)
n.310+709A=
n.430+709A=
n.486A=
c.233+185A=
n.790+709A=
c.473-3273A=
n.773+709A=
c.2226+709A= (n.2226+709A=)
n.421+709A=
c.491A= (p.His164=)
c.3614A= (p.His1205=)
c.3590A= (p.His1197=)
c.3560A= (p.His1187=)
c.3542A= (p.His1181=)
c.3488A= (p.His1163=)
c.3407A= (p.His1136=)
c.3350A= (p.His1117=)
c.1436A= (p.His479=)
c.614A= (p.His205=)
n.3629A=
c.3656A= (p.His1219=)
c.3584A= (p.His1195=)
c.3446A= (p.His1149=)
c.1532A= (p.His511=)
16g.2111632G>ACA394382907PKD1c.3535C>T (p.His1179Tyr)
n.310+708C>T
n.430+708C>T
n.485C>T
c.233+184C>T
n.790+708C>T
c.473-3274C>T
n.773+708C>T
c.2226+708C>T (n.2226+708C>T)
n.421+708C>T
c.490C>T (p.His164Tyr)
c.3613C>T (p.His1205Tyr)
c.3589C>T (p.His1197Tyr)
c.3559C>T (p.His1187Tyr)
c.3541C>T (p.His1181Tyr)
c.3487C>T (p.His1163Tyr)
c.3406C>T (p.His1136Tyr)
c.3349C>T (p.His1117Tyr)
c.1435C>T (p.His479Tyr)
c.613C>T (p.His205Tyr)
n.3628C>T
c.3655C>T (p.His1219Tyr)
c.3583C>T (p.His1195Tyr)
c.3445C>T (p.His1149Tyr)
c.1531C>T (p.His511Tyr)
 gnomAD v4
16g.2111632G>CCA394382908PKD1c.3535C>G (p.His1179Asp)
n.310+708C>G
n.430+708C>G
n.485C>G
c.233+184C>G
n.790+708C>G
c.473-3274C>G
n.773+708C>G
c.2226+708C>G (n.2226+708C>G)
n.421+708C>G
c.490C>G (p.His164Asp)
c.3613C>G (p.His1205Asp)
c.3589C>G (p.His1197Asp)
c.3559C>G (p.His1187Asp)
c.3541C>G (p.His1181Asp)
c.3487C>G (p.His1163Asp)
c.3406C>G (p.His1136Asp)
c.3349C>G (p.His1117Asp)
c.1435C>G (p.His479Asp)
c.613C>G (p.His205Asp)
n.3628C>G
c.3655C>G (p.His1219Asp)
c.3583C>G (p.His1195Asp)
c.3445C>G (p.His1149Asp)
c.1531C>G (p.His511Asp)
16g.2111632G=CA2202047726PKD1c.3535C= (p.His1179=)
n.310+708C=
n.430+708C=
n.485C=
c.233+184C=
n.790+708C=
c.473-3274C=
n.773+708C=
c.2226+708C= (n.2226+708C=)
n.421+708C=
c.490C= (p.His164=)
c.3613C= (p.His1205=)
c.3589C= (p.His1197=)
c.3559C= (p.His1187=)
c.3541C= (p.His1181=)
c.3487C= (p.His1163=)
c.3406C= (p.His1136=)
c.3349C= (p.His1117=)
c.1435C= (p.His479=)
c.613C= (p.His205=)
n.3628C=
c.3655C= (p.His1219=)
c.3583C= (p.His1195=)
c.3445C= (p.His1149=)
c.1531C= (p.His511=)
16g.2111632G>TCA394382909PKD1c.3535C>A (p.His1179Asn)
n.310+708C>A
n.430+708C>A
n.485C>A
c.233+184C>A
n.790+708C>A
c.473-3274C>A
n.773+708C>A
c.2226+708C>A (n.2226+708C>A)
n.421+708C>A
c.490C>A (p.His164Asn)
c.3613C>A (p.His1205Asn)
c.3589C>A (p.His1197Asn)
c.3559C>A (p.His1187Asn)
c.3541C>A (p.His1181Asn)
c.3487C>A (p.His1163Asn)
c.3406C>A (p.His1136Asn)
c.3349C>A (p.His1117Asn)
c.1435C>A (p.His479Asn)
c.613C>A (p.His205Asn)
n.3628C>A
c.3655C>A (p.His1219Asn)
c.3583C>A (p.His1195Asn)
c.3445C>A (p.His1149Asn)
c.1531C>A (p.His511Asn)
 dbSNP gnomAD v4
16g.2111633G>ACA7832734PKD1c.3534C>T (p.Asn1178=)
n.310+707C>T
n.430+707C>T
n.484C>T
c.233+183C>T
n.790+707C>T
c.473-3275C>T
n.773+707C>T
c.2226+707C>T (n.2226+707C>T)
n.421+707C>T
c.489C>T (p.Asn163=)
c.3612C>T (p.Asn1204=)
c.3588C>T (p.Asn1196=)
c.3558C>T (p.Asn1186=)
c.3540C>T (p.Asn1180=)
c.3486C>T (p.Asn1162=)
c.3405C>T (p.Asn1135=)
c.3348C>T (p.Asn1116=)
c.1434C>T (p.Asn478=)
c.612C>T (p.Asn204=)
n.3627C>T
c.3654C>T (p.Asn1218=)
c.3582C>T (p.Asn1194=)
c.3444C>T (p.Asn1148=)
c.1530C>T (p.Asn510=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111633G>CCA394382910PKD1c.3534C>G (p.Asn1178Lys)
n.310+707C>G
n.430+707C>G
n.484C>G
c.233+183C>G
n.790+707C>G
c.473-3275C>G
n.773+707C>G
c.2226+707C>G (n.2226+707C>G)
n.421+707C>G
c.489C>G (p.Asn163Lys)
c.3612C>G (p.Asn1204Lys)
c.3588C>G (p.Asn1196Lys)
c.3558C>G (p.Asn1186Lys)
c.3540C>G (p.Asn1180Lys)
c.3486C>G (p.Asn1162Lys)
c.3405C>G (p.Asn1135Lys)
c.3348C>G (p.Asn1116Lys)
c.1434C>G (p.Asn478Lys)
c.612C>G (p.Asn204Lys)
n.3627C>G
c.3654C>G (p.Asn1218Lys)
c.3582C>G (p.Asn1194Lys)
c.3444C>G (p.Asn1148Lys)
c.1530C>G (p.Asn510Lys)
 gnomAD v4
16g.2111633G=CA2202047727PKD1c.3534C= (p.Asn1178=)
n.310+707C=
n.430+707C=
n.484C=
c.233+183C=
n.790+707C=
c.473-3275C=
n.773+707C=
c.2226+707C= (n.2226+707C=)
n.421+707C=
c.489C= (p.Asn163=)
c.3612C= (p.Asn1204=)
c.3588C= (p.Asn1196=)
c.3558C= (p.Asn1186=)
c.3540C= (p.Asn1180=)
c.3486C= (p.Asn1162=)
c.3405C= (p.Asn1135=)
c.3348C= (p.Asn1116=)
c.1434C= (p.Asn478=)
c.612C= (p.Asn204=)
n.3627C=
c.3654C= (p.Asn1218=)
c.3582C= (p.Asn1194=)
c.3444C= (p.Asn1148=)
c.1530C= (p.Asn510=)
16g.2111633G>TCA394382911PKD1c.3534C>A (p.Asn1178Lys)
n.310+707C>A
n.430+707C>A
n.484C>A
c.233+183C>A
n.790+707C>A
c.473-3275C>A
n.773+707C>A
c.2226+707C>A (n.2226+707C>A)
n.421+707C>A
c.489C>A (p.Asn163Lys)
c.3612C>A (p.Asn1204Lys)
c.3588C>A (p.Asn1196Lys)
c.3558C>A (p.Asn1186Lys)
c.3540C>A (p.Asn1180Lys)
c.3486C>A (p.Asn1162Lys)
c.3405C>A (p.Asn1135Lys)
c.3348C>A (p.Asn1116Lys)
c.1434C>A (p.Asn478Lys)
c.612C>A (p.Asn204Lys)
n.3627C>A
c.3654C>A (p.Asn1218Lys)
c.3582C>A (p.Asn1194Lys)
c.3444C>A (p.Asn1148Lys)
c.1530C>A (p.Asn510Lys)
 gnomAD v4
16g.2111634T>ACA394382914PKD1c.3533A>T (p.Asn1178Ile)
n.310+706A>T
n.430+706A>T
n.483A>T
c.233+182A>T
n.790+706A>T
c.473-3276A>T
n.773+706A>T
c.2226+706A>T (n.2226+706A>T)
n.421+706A>T
c.488A>T (p.Asn163Ile)
c.3611A>T (p.Asn1204Ile)
c.3587A>T (p.Asn1196Ile)
c.3557A>T (p.Asn1186Ile)
c.3539A>T (p.Asn1180Ile)
c.3485A>T (p.Asn1162Ile)
c.3404A>T (p.Asn1135Ile)
c.3347A>T (p.Asn1116Ile)
c.1433A>T (p.Asn478Ile)
c.611A>T (p.Asn204Ile)
n.3626A>T
c.3653A>T (p.Asn1218Ile)
c.3581A>T (p.Asn1194Ile)
c.3443A>T (p.Asn1148Ile)
c.1529A>T (p.Asn510Ile)
16g.2111634T>CCA394382912PKD1c.3533A>G (p.Asn1178Ser)
n.310+706A>G
n.430+706A>G
n.483A>G
c.233+182A>G
n.790+706A>G
c.473-3276A>G
n.773+706A>G
c.2226+706A>G (n.2226+706A>G)
n.421+706A>G
c.488A>G (p.Asn163Ser)
c.3611A>G (p.Asn1204Ser)
c.3587A>G (p.Asn1196Ser)
c.3557A>G (p.Asn1186Ser)
c.3539A>G (p.Asn1180Ser)
c.3485A>G (p.Asn1162Ser)
c.3404A>G (p.Asn1135Ser)
c.3347A>G (p.Asn1116Ser)
c.1433A>G (p.Asn478Ser)
c.611A>G (p.Asn204Ser)
n.3626A>G
c.3653A>G (p.Asn1218Ser)
c.3581A>G (p.Asn1194Ser)
c.3443A>G (p.Asn1148Ser)
c.1529A>G (p.Asn510Ser)
16g.2111634T>GCA394382913PKD1c.3533A>C (p.Asn1178Thr)
n.310+706A>C
n.430+706A>C
n.483A>C
c.233+182A>C
n.790+706A>C
c.473-3276A>C
n.773+706A>C
c.2226+706A>C (n.2226+706A>C)
n.421+706A>C
c.488A>C (p.Asn163Thr)
c.3611A>C (p.Asn1204Thr)
c.3587A>C (p.Asn1196Thr)
c.3557A>C (p.Asn1186Thr)
c.3539A>C (p.Asn1180Thr)
c.3485A>C (p.Asn1162Thr)
c.3404A>C (p.Asn1135Thr)
c.3347A>C (p.Asn1116Thr)
c.1433A>C (p.Asn478Thr)
c.611A>C (p.Asn204Thr)
n.3626A>C
c.3653A>C (p.Asn1218Thr)
c.3581A>C (p.Asn1194Thr)
c.3443A>C (p.Asn1148Thr)
c.1529A>C (p.Asn510Thr)
16g.2111635T>ACA394382915PKD1c.3532A>T (p.Asn1178Tyr)
n.310+705A>T
n.430+705A>T
n.482A>T
c.233+181A>T
n.790+705A>T
c.473-3277A>T
n.773+705A>T
c.2226+705A>T (n.2226+705A>T)
n.421+705A>T
c.487A>T (p.Asn163Tyr)
c.3610A>T (p.Asn1204Tyr)
c.3586A>T (p.Asn1196Tyr)
c.3556A>T (p.Asn1186Tyr)
c.3538A>T (p.Asn1180Tyr)
c.3484A>T (p.Asn1162Tyr)
c.3403A>T (p.Asn1135Tyr)
c.3346A>T (p.Asn1116Tyr)
c.1432A>T (p.Asn478Tyr)
c.610A>T (p.Asn204Tyr)
n.3625A>T
c.3652A>T (p.Asn1218Tyr)
c.3580A>T (p.Asn1194Tyr)
c.3442A>T (p.Asn1148Tyr)
c.1528A>T (p.Asn510Tyr)
16g.2111635T>CCA394382916PKD1c.3532A>G (p.Asn1178Asp)
n.310+705A>G
n.430+705A>G
n.482A>G
c.233+181A>G
n.790+705A>G
c.473-3277A>G
n.773+705A>G
c.2226+705A>G (n.2226+705A>G)
n.421+705A>G
c.487A>G (p.Asn163Asp)
c.3610A>G (p.Asn1204Asp)
c.3586A>G (p.Asn1196Asp)
c.3556A>G (p.Asn1186Asp)
c.3538A>G (p.Asn1180Asp)
c.3484A>G (p.Asn1162Asp)
c.3403A>G (p.Asn1135Asp)
c.3346A>G (p.Asn1116Asp)
c.1432A>G (p.Asn478Asp)
c.610A>G (p.Asn204Asp)
n.3625A>G
c.3652A>G (p.Asn1218Asp)
c.3580A>G (p.Asn1194Asp)
c.3442A>G (p.Asn1148Asp)
c.1528A>G (p.Asn510Asp)
 gnomAD v4
16g.2111635T>GCA394382917PKD1c.3532A>C (p.Asn1178His)
n.310+705A>C
n.430+705A>C
n.482A>C
c.233+181A>C
n.790+705A>C
c.473-3277A>C
n.773+705A>C
c.2226+705A>C (n.2226+705A>C)
n.421+705A>C
c.487A>C (p.Asn163His)
c.3610A>C (p.Asn1204His)
c.3586A>C (p.Asn1196His)
c.3556A>C (p.Asn1186His)
c.3538A>C (p.Asn1180His)
c.3484A>C (p.Asn1162His)
c.3403A>C (p.Asn1135His)
c.3346A>C (p.Asn1116His)
c.1432A>C (p.Asn478His)
c.610A>C (p.Asn204His)
n.3625A>C
c.3652A>C (p.Asn1218His)
c.3580A>C (p.Asn1194His)
c.3442A>C (p.Asn1148His)
c.1528A>C (p.Asn510His)
16g.2111636G>ACA276781905PKD1c.3531C>T (p.Ala1177=)
n.310+704C>T
n.430+704C>T
n.481C>T
c.233+180C>T
n.790+704C>T
c.473-3278C>T
n.773+704C>T
c.2226+704C>T (n.2226+704C>T)
n.421+704C>T
c.486C>T (p.Ala162=)
c.3609C>T (p.Ala1203=)
c.3585C>T (p.Ala1195=)
c.3555C>T (p.Ala1185=)
c.3537C>T (p.Ala1179=)
c.3483C>T (p.Ala1161=)
c.3402C>T (p.Ala1134=)
c.3345C>T (p.Ala1115=)
c.1431C>T (p.Ala477=)
c.609C>T (p.Ala203=)
n.3624C>T
c.3651C>T (p.Ala1217=)
c.3579C>T (p.Ala1193=)
c.3441C>T (p.Ala1147=)
c.1527C>T (p.Ala509=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111636G>CCA493049670PKD1c.3531C>G (p.Ala1177=)
n.310+704C>G
n.430+704C>G
n.481C>G
c.233+180C>G
n.790+704C>G
c.473-3278C>G
n.773+704C>G
c.2226+704C>G (n.2226+704C>G)
n.421+704C>G
c.486C>G (p.Ala162=)
c.3609C>G (p.Ala1203=)
c.3585C>G (p.Ala1195=)
c.3555C>G (p.Ala1185=)
c.3537C>G (p.Ala1179=)
c.3483C>G (p.Ala1161=)
c.3402C>G (p.Ala1134=)
c.3345C>G (p.Ala1115=)
c.1431C>G (p.Ala477=)
c.609C>G (p.Ala203=)
n.3624C>G
c.3651C>G (p.Ala1217=)
c.3579C>G (p.Ala1193=)
c.3441C>G (p.Ala1147=)
c.1527C>G (p.Ala509=)
16g.2111636G=CA2202047728PKD1c.3531C= (p.Ala1177=)
n.310+704C=
n.430+704C=
n.481C=
c.233+180C=
n.790+704C=
c.473-3278C=
n.773+704C=
c.2226+704C= (n.2226+704C=)
n.421+704C=
c.486C= (p.Ala162=)
c.3609C= (p.Ala1203=)
c.3585C= (p.Ala1195=)
c.3555C= (p.Ala1185=)
c.3537C= (p.Ala1179=)
c.3483C= (p.Ala1161=)
c.3402C= (p.Ala1134=)
c.3345C= (p.Ala1115=)
c.1431C= (p.Ala477=)
c.609C= (p.Ala203=)
n.3624C=
c.3651C= (p.Ala1217=)
c.3579C= (p.Ala1193=)
c.3441C= (p.Ala1147=)
c.1527C= (p.Ala509=)
16g.2111636G>TCA493049675PKD1c.3531C>A (p.Ala1177=)
n.310+704C>A
n.430+704C>A
n.481C>A
c.233+180C>A
n.790+704C>A
c.473-3278C>A
n.773+704C>A
c.2226+704C>A (n.2226+704C>A)
n.421+704C>A
c.486C>A (p.Ala162=)
c.3609C>A (p.Ala1203=)
c.3585C>A (p.Ala1195=)
c.3555C>A (p.Ala1185=)
c.3537C>A (p.Ala1179=)
c.3483C>A (p.Ala1161=)
c.3402C>A (p.Ala1134=)
c.3345C>A (p.Ala1115=)
c.1431C>A (p.Ala477=)
c.609C>A (p.Ala203=)
n.3624C>A
c.3651C>A (p.Ala1217=)
c.3579C>A (p.Ala1193=)
c.3441C>A (p.Ala1147=)
c.1527C>A (p.Ala509=)
 gnomAD v4
16g.2111637G>ACA394382918PKD1c.3530C>T (p.Ala1177Val)
n.310+703C>T
n.430+703C>T
n.480C>T
c.233+179C>T
n.790+703C>T
c.473-3279C>T
n.773+703C>T
c.2226+703C>T (n.2226+703C>T)
n.421+703C>T
c.485C>T (p.Ala162Val)
c.3608C>T (p.Ala1203Val)
c.3584C>T (p.Ala1195Val)
c.3554C>T (p.Ala1185Val)
c.3536C>T (p.Ala1179Val)
c.3482C>T (p.Ala1161Val)
c.3401C>T (p.Ala1134Val)
c.3344C>T (p.Ala1115Val)
c.1430C>T (p.Ala477Val)
c.608C>T (p.Ala203Val)
n.3623C>T
c.3650C>T (p.Ala1217Val)
c.3578C>T (p.Ala1193Val)
c.3440C>T (p.Ala1147Val)
c.1526C>T (p.Ala509Val)
 gnomAD v4
16g.2111637G>CCA394382919PKD1c.3530C>G (p.Ala1177Gly)
n.310+703C>G
n.430+703C>G
n.480C>G
c.233+179C>G
n.790+703C>G
c.473-3279C>G
n.773+703C>G
c.2226+703C>G (n.2226+703C>G)
n.421+703C>G
c.485C>G (p.Ala162Gly)
c.3608C>G (p.Ala1203Gly)
c.3584C>G (p.Ala1195Gly)
c.3554C>G (p.Ala1185Gly)
c.3536C>G (p.Ala1179Gly)
c.3482C>G (p.Ala1161Gly)
c.3401C>G (p.Ala1134Gly)
c.3344C>G (p.Ala1115Gly)
c.1430C>G (p.Ala477Gly)
c.608C>G (p.Ala203Gly)
n.3623C>G
c.3650C>G (p.Ala1217Gly)
c.3578C>G (p.Ala1193Gly)
c.3440C>G (p.Ala1147Gly)
c.1526C>G (p.Ala509Gly)
16g.2111637G>TCA394382920PKD1c.3530C>A (p.Ala1177Asp)
n.310+703C>A
n.430+703C>A
n.480C>A
c.233+179C>A
n.790+703C>A
c.473-3279C>A
n.773+703C>A
c.2226+703C>A (n.2226+703C>A)
n.421+703C>A
c.485C>A (p.Ala162Asp)
c.3608C>A (p.Ala1203Asp)
c.3584C>A (p.Ala1195Asp)
c.3554C>A (p.Ala1185Asp)
c.3536C>A (p.Ala1179Asp)
c.3482C>A (p.Ala1161Asp)
c.3401C>A (p.Ala1134Asp)
c.3344C>A (p.Ala1115Asp)
c.1430C>A (p.Ala477Asp)
c.608C>A (p.Ala203Asp)
n.3623C>A
c.3650C>A (p.Ala1217Asp)
c.3578C>A (p.Ala1193Asp)
c.3440C>A (p.Ala1147Asp)
c.1526C>A (p.Ala509Asp)
 gnomAD v4
16g.2111638C>ACA394382921PKD1c.3529G>T (p.Ala1177Ser)
n.310+702G>T
n.430+702G>T
n.479G>T
c.233+178G>T
n.790+702G>T
c.473-3280G>T
n.773+702G>T
c.2226+702G>T (n.2226+702G>T)
n.421+702G>T
c.484G>T (p.Ala162Ser)
c.3607G>T (p.Ala1203Ser)
c.3583G>T (p.Ala1195Ser)
c.3553G>T (p.Ala1185Ser)
c.3535G>T (p.Ala1179Ser)
c.3481G>T (p.Ala1161Ser)
c.3400G>T (p.Ala1134Ser)
c.3343G>T (p.Ala1115Ser)
c.1429G>T (p.Ala477Ser)
c.607G>T (p.Ala203Ser)
n.3622G>T
c.3649G>T (p.Ala1217Ser)
c.3577G>T (p.Ala1193Ser)
c.3439G>T (p.Ala1147Ser)
c.1525G>T (p.Ala509Ser)
 gnomAD v4
16g.2111638C=CA2202047729PKD1c.3529G= (p.Ala1177=)
n.310+702G=
n.430+702G=
n.479G=
c.233+178G=
n.790+702G=
c.473-3280G=
n.773+702G=
c.2226+702G= (n.2226+702G=)
n.421+702G=
c.484G= (p.Ala162=)
c.3607G= (p.Ala1203=)
c.3583G= (p.Ala1195=)
c.3553G= (p.Ala1185=)
c.3535G= (p.Ala1179=)
c.3481G= (p.Ala1161=)
c.3400G= (p.Ala1134=)
c.3343G= (p.Ala1115=)
c.1429G= (p.Ala477=)
c.607G= (p.Ala203=)
n.3622G=
c.3649G= (p.Ala1217=)
c.3577G= (p.Ala1193=)
c.3439G= (p.Ala1147=)
c.1525G= (p.Ala509=)
16g.2111638C>GCA394382922PKD1c.3529G>C (p.Ala1177Pro)
n.310+702G>C
n.430+702G>C
n.479G>C
c.233+178G>C
n.790+702G>C
c.473-3280G>C
n.773+702G>C
c.2226+702G>C (n.2226+702G>C)
n.421+702G>C
c.484G>C (p.Ala162Pro)
c.3607G>C (p.Ala1203Pro)
c.3583G>C (p.Ala1195Pro)
c.3553G>C (p.Ala1185Pro)
c.3535G>C (p.Ala1179Pro)
c.3481G>C (p.Ala1161Pro)
c.3400G>C (p.Ala1134Pro)
c.3343G>C (p.Ala1115Pro)
c.1429G>C (p.Ala477Pro)
c.607G>C (p.Ala203Pro)
n.3622G>C
c.3649G>C (p.Ala1217Pro)
c.3577G>C (p.Ala1193Pro)
c.3439G>C (p.Ala1147Pro)
c.1525G>C (p.Ala509Pro)
 gnomAD v4
16g.2111638C>TCA394382923PKD1c.3529G>A (p.Ala1177Thr)
n.310+702G>A
n.430+702G>A
n.479G>A
c.233+178G>A
n.790+702G>A
c.473-3280G>A
n.773+702G>A
c.2226+702G>A (n.2226+702G>A)
n.421+702G>A
c.484G>A (p.Ala162Thr)
c.3607G>A (p.Ala1203Thr)
c.3583G>A (p.Ala1195Thr)
c.3553G>A (p.Ala1185Thr)
c.3535G>A (p.Ala1179Thr)
c.3481G>A (p.Ala1161Thr)
c.3400G>A (p.Ala1134Thr)
c.3343G>A (p.Ala1115Thr)
c.1429G>A (p.Ala477Thr)
c.607G>A (p.Ala203Thr)
n.3622G>A
c.3649G>A (p.Ala1217Thr)
c.3577G>A (p.Ala1193Thr)
c.3439G>A (p.Ala1147Thr)
c.1525G>A (p.Ala509Thr)
 dbSNP gnomAD v4
16g.2111639A=CA2202047730PKD1c.3528T= (p.Ala1176=)
n.310+701T=
n.430+701T=
n.478T=
c.233+177T=
n.790+701T=
c.473-3281T=
n.773+701T=
c.2226+701T= (n.2226+701T=)
n.421+701T=
c.483T= (p.Ala161=)
c.3606T= (p.Ala1202=)
c.3582T= (p.Ala1194=)
c.3552T= (p.Ala1184=)
c.3534T= (p.Ala1178=)
c.3480T= (p.Ala1160=)
c.3399T= (p.Ala1133=)
c.3342T= (p.Ala1114=)
c.1428T= (p.Ala476=)
c.606T= (p.Ala202=)
n.3621T=
c.3648T= (p.Ala1216=)
c.3576T= (p.Ala1192=)
c.3438T= (p.Ala1146=)
c.1524T= (p.Ala508=)
16g.2111639A>CCA493049683PKD1c.3528T>G (p.Ala1176=)
n.310+701T>G
n.430+701T>G
n.478T>G
c.233+177T>G
n.790+701T>G
c.473-3281T>G
n.773+701T>G
c.2226+701T>G (n.2226+701T>G)
n.421+701T>G
c.483T>G (p.Ala161=)
c.3606T>G (p.Ala1202=)
c.3582T>G (p.Ala1194=)
c.3552T>G (p.Ala1184=)
c.3534T>G (p.Ala1178=)
c.3480T>G (p.Ala1160=)
c.3399T>G (p.Ala1133=)
c.3342T>G (p.Ala1114=)
c.1428T>G (p.Ala476=)
c.606T>G (p.Ala202=)
n.3621T>G
c.3648T>G (p.Ala1216=)
c.3576T>G (p.Ala1192=)
c.3438T>G (p.Ala1146=)
c.1524T>G (p.Ala508=)
16g.2111639A>GCA493049684PKD1c.3528T>C (p.Ala1176=)
n.310+701T>C
n.430+701T>C
n.478T>C
c.233+177T>C
n.790+701T>C
c.473-3281T>C
n.773+701T>C
c.2226+701T>C (n.2226+701T>C)
n.421+701T>C
c.483T>C (p.Ala161=)
c.3606T>C (p.Ala1202=)
c.3582T>C (p.Ala1194=)
c.3552T>C (p.Ala1184=)
c.3534T>C (p.Ala1178=)
c.3480T>C (p.Ala1160=)
c.3399T>C (p.Ala1133=)
c.3342T>C (p.Ala1114=)
c.1428T>C (p.Ala476=)
c.606T>C (p.Ala202=)
n.3621T>C
c.3648T>C (p.Ala1216=)
c.3576T>C (p.Ala1192=)
c.3438T>C (p.Ala1146=)
c.1524T>C (p.Ala508=)
16g.2111639A>TCA7832735PKD1c.3528T>A (p.Ala1176=)
n.310+701T>A
n.430+701T>A
n.478T>A
c.233+177T>A
n.790+701T>A
c.473-3281T>A
n.773+701T>A
c.2226+701T>A (n.2226+701T>A)
n.421+701T>A
c.483T>A (p.Ala161=)
c.3606T>A (p.Ala1202=)
c.3582T>A (p.Ala1194=)
c.3552T>A (p.Ala1184=)
c.3534T>A (p.Ala1178=)
c.3480T>A (p.Ala1160=)
c.3399T>A (p.Ala1133=)
c.3342T>A (p.Ala1114=)
c.1428T>A (p.Ala476=)
c.606T>A (p.Ala202=)
n.3621T>A
c.3648T>A (p.Ala1216=)
c.3576T>A (p.Ala1192=)
c.3438T>A (p.Ala1146=)
c.1524T>A (p.Ala508=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111640G>ACA394382924PKD1c.3527C>T (p.Ala1176Val)
n.310+700C>T
n.430+700C>T
n.477C>T
c.233+176C>T
n.790+700C>T
c.473-3282C>T
n.773+700C>T
c.2226+700C>T (n.2226+700C>T)
n.421+700C>T
c.482C>T (p.Ala161Val)
c.3605C>T (p.Ala1202Val)
c.3581C>T (p.Ala1194Val)
c.3551C>T (p.Ala1184Val)
c.3533C>T (p.Ala1178Val)
c.3479C>T (p.Ala1160Val)
c.3398C>T (p.Ala1133Val)
c.3341C>T (p.Ala1114Val)
c.1427C>T (p.Ala476Val)
c.605C>T (p.Ala202Val)
n.3620C>T
c.3647C>T (p.Ala1216Val)
c.3575C>T (p.Ala1192Val)
c.3437C>T (p.Ala1146Val)
c.1523C>T (p.Ala508Val)
 gnomAD v4
16g.2111640G>CCA394382925PKD1c.3527C>G (p.Ala1176Gly)
n.310+700C>G
n.430+700C>G
n.477C>G
c.233+176C>G
n.790+700C>G
c.473-3282C>G
n.773+700C>G
c.2226+700C>G (n.2226+700C>G)
n.421+700C>G
c.482C>G (p.Ala161Gly)
c.3605C>G (p.Ala1202Gly)
c.3581C>G (p.Ala1194Gly)
c.3551C>G (p.Ala1184Gly)
c.3533C>G (p.Ala1178Gly)
c.3479C>G (p.Ala1160Gly)
c.3398C>G (p.Ala1133Gly)
c.3341C>G (p.Ala1114Gly)
c.1427C>G (p.Ala476Gly)
c.605C>G (p.Ala202Gly)
n.3620C>G
c.3647C>G (p.Ala1216Gly)
c.3575C>G (p.Ala1192Gly)
c.3437C>G (p.Ala1146Gly)
c.1523C>G (p.Ala508Gly)
16g.2111640G>TCA394382926PKD1c.3527C>A (p.Ala1176Asp)
n.310+700C>A
n.430+700C>A
n.477C>A
c.233+176C>A
n.790+700C>A
c.473-3282C>A
n.773+700C>A
c.2226+700C>A (n.2226+700C>A)
n.421+700C>A
c.482C>A (p.Ala161Asp)
c.3605C>A (p.Ala1202Asp)
c.3581C>A (p.Ala1194Asp)
c.3551C>A (p.Ala1184Asp)
c.3533C>A (p.Ala1178Asp)
c.3479C>A (p.Ala1160Asp)
c.3398C>A (p.Ala1133Asp)
c.3341C>A (p.Ala1114Asp)
c.1427C>A (p.Ala476Asp)
c.605C>A (p.Ala202Asp)
n.3620C>A
c.3647C>A (p.Ala1216Asp)
c.3575C>A (p.Ala1192Asp)
c.3437C>A (p.Ala1146Asp)
c.1523C>A (p.Ala508Asp)
 gnomAD v4
16g.2111642_2111645dupCA2695222484PKD1c.3524_3527dup (p.Ala1177GlyfsTer?)
n.310+697_310+700dup
n.430+697_430+700dup
n.474_477dup
c.233+173_233+176dup
n.790+697_790+700dup
c.473-3285_473-3282dup
n.773+697_773+700dup
c.2226+697_2226+700dup (n.2226+697_2226+700dup)
n.421+697_421+700dup
c.479_482dup (p.Ala162GlyfsTer?)
c.3602_3605dup (p.Ala1203GlyfsTer?)
c.3578_3581dup (p.Ala1195GlyfsTer?)
c.3548_3551dup (p.Ala1185GlyfsTer?)
c.3530_3533dup (p.Ala1179GlyfsTer?)
c.3476_3479dup (p.Ala1161GlyfsTer?)
c.3395_3398dup (p.Ala1134GlyfsTer?)
c.3338_3341dup (p.Ala1115GlyfsTer?)
c.1424_1427dup (p.Ala477GlyfsTer?)
c.602_605dup (p.Ala203GlyfsTer?)
n.3617_3620dup
c.3644_3647dup (p.Ala1217GlyfsTer?)
c.3572_3575dup (p.Ala1193GlyfsTer?)
c.3434_3437dup (p.Ala1147GlyfsTer?)
c.1520_1523dup (p.Ala509GlyfsTer?)
16g.2111641C>ACA394382929PKD1c.3526G>T (p.Ala1176Ser)
n.310+699G>T
n.430+699G>T
n.476G>T
c.233+175G>T
n.790+699G>T
c.473-3283G>T
n.773+699G>T
c.2226+699G>T (n.2226+699G>T)
n.421+699G>T
c.481G>T (p.Ala161Ser)
c.3604G>T (p.Ala1202Ser)
c.3580G>T (p.Ala1194Ser)
c.3550G>T (p.Ala1184Ser)
c.3532G>T (p.Ala1178Ser)
c.3478G>T (p.Ala1160Ser)
c.3397G>T (p.Ala1133Ser)
c.3340G>T (p.Ala1114Ser)
c.1426G>T (p.Ala476Ser)
c.604G>T (p.Ala202Ser)
n.3619G>T
c.3646G>T (p.Ala1216Ser)
c.3574G>T (p.Ala1192Ser)
c.3436G>T (p.Ala1146Ser)
c.1522G>T (p.Ala508Ser)
 gnomAD v4
16g.2111641C=CA2202047731PKD1c.3526G= (p.Ala1176=)
n.310+699G=
n.430+699G=
n.476G=
c.233+175G=
n.790+699G=
c.473-3283G=
n.773+699G=
c.2226+699G= (n.2226+699G=)
n.421+699G=
c.481G= (p.Ala161=)
c.3604G= (p.Ala1202=)
c.3580G= (p.Ala1194=)
c.3550G= (p.Ala1184=)
c.3532G= (p.Ala1178=)
c.3478G= (p.Ala1160=)
c.3397G= (p.Ala1133=)
c.3340G= (p.Ala1114=)
c.1426G= (p.Ala476=)
c.604G= (p.Ala202=)
n.3619G=
c.3646G= (p.Ala1216=)
c.3574G= (p.Ala1192=)
c.3436G= (p.Ala1146=)
c.1522G= (p.Ala508=)
16g.2111641C>GCA394382927PKD1c.3526G>C (p.Ala1176Pro)
n.310+699G>C
n.430+699G>C
n.476G>C
c.233+175G>C
n.790+699G>C
c.473-3283G>C
n.773+699G>C
c.2226+699G>C (n.2226+699G>C)
n.421+699G>C
c.481G>C (p.Ala161Pro)
c.3604G>C (p.Ala1202Pro)
c.3580G>C (p.Ala1194Pro)
c.3550G>C (p.Ala1184Pro)
c.3532G>C (p.Ala1178Pro)
c.3478G>C (p.Ala1160Pro)
c.3397G>C (p.Ala1133Pro)
c.3340G>C (p.Ala1114Pro)
c.1426G>C (p.Ala476Pro)
c.604G>C (p.Ala202Pro)
n.3619G>C
c.3646G>C (p.Ala1216Pro)
c.3574G>C (p.Ala1192Pro)
c.3436G>C (p.Ala1146Pro)
c.1522G>C (p.Ala508Pro)
 dbSNP
16g.2111641C>TCA394382928PKD1c.3526G>A (p.Ala1176Thr)
n.310+699G>A
n.430+699G>A
n.476G>A
c.233+175G>A
n.790+699G>A
c.473-3283G>A
n.773+699G>A
c.2226+699G>A (n.2226+699G>A)
n.421+699G>A
c.481G>A (p.Ala161Thr)
c.3604G>A (p.Ala1202Thr)
c.3580G>A (p.Ala1194Thr)
c.3550G>A (p.Ala1184Thr)
c.3532G>A (p.Ala1178Thr)
c.3478G>A (p.Ala1160Thr)
c.3397G>A (p.Ala1133Thr)
c.3340G>A (p.Ala1114Thr)
c.1426G>A (p.Ala476Thr)
c.604G>A (p.Ala202Thr)
n.3619G>A
c.3646G>A (p.Ala1216Thr)
c.3574G>A (p.Ala1192Thr)
c.3436G>A (p.Ala1146Thr)
c.1522G>A (p.Ala508Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.2111642C>ACA493049690PKD1c.3525G>T (p.Pro1175=)
n.310+698G>T
n.430+698G>T
n.475G>T
c.233+174G>T
n.790+698G>T
c.473-3284G>T
n.773+698G>T
c.2226+698G>T (n.2226+698G>T)
n.421+698G>T
c.480G>T (p.Pro160=)
c.3603G>T (p.Pro1201=)
c.3579G>T (p.Pro1193=)
c.3549G>T (p.Pro1183=)
c.3531G>T (p.Pro1177=)
c.3477G>T (p.Pro1159=)
c.3396G>T (p.Pro1132=)
c.3339G>T (p.Pro1113=)
c.1425G>T (p.Pro475=)
c.603G>T (p.Pro201=)
n.3618G>T
c.3645G>T (p.Pro1215=)
c.3573G>T (p.Pro1191=)
c.3435G>T (p.Pro1145=)
c.1521G>T (p.Pro507=)
 gnomAD v4
16g.2111642C=CA2202047732PKD1c.3525G= (p.Pro1175=)
n.310+698G=
n.430+698G=
n.475G=
c.233+174G=
n.790+698G=
c.473-3284G=
n.773+698G=
c.2226+698G= (n.2226+698G=)
n.421+698G=
c.480G= (p.Pro160=)
c.3603G= (p.Pro1201=)
c.3579G= (p.Pro1193=)
c.3549G= (p.Pro1183=)
c.3531G= (p.Pro1177=)
c.3477G= (p.Pro1159=)
c.3396G= (p.Pro1132=)
c.3339G= (p.Pro1113=)
c.1425G= (p.Pro475=)
c.603G= (p.Pro201=)
n.3618G=
c.3645G= (p.Pro1215=)
c.3573G= (p.Pro1191=)
c.3435G= (p.Pro1145=)
c.1521G= (p.Pro507=)
16g.2111642C>GCA493049691PKD1c.3525G>C (p.Pro1175=)
n.310+698G>C
n.430+698G>C
n.475G>C
c.233+174G>C
n.790+698G>C
c.473-3284G>C
n.773+698G>C
c.2226+698G>C (n.2226+698G>C)
n.421+698G>C
c.480G>C (p.Pro160=)
c.3603G>C (p.Pro1201=)
c.3579G>C (p.Pro1193=)
c.3549G>C (p.Pro1183=)
c.3531G>C (p.Pro1177=)
c.3477G>C (p.Pro1159=)
c.3396G>C (p.Pro1132=)
c.3339G>C (p.Pro1113=)
c.1425G>C (p.Pro475=)
c.603G>C (p.Pro201=)
n.3618G>C
c.3645G>C (p.Pro1215=)
c.3573G>C (p.Pro1191=)
c.3435G>C (p.Pro1145=)
c.1521G>C (p.Pro507=)
16g.2111642C>TCA7832736PKD1c.3525G>A (p.Pro1175=)
n.310+698G>A
n.430+698G>A
n.475G>A
c.233+174G>A
n.790+698G>A
c.473-3284G>A
n.773+698G>A
c.2226+698G>A (n.2226+698G>A)
n.421+698G>A
c.480G>A (p.Pro160=)
c.3603G>A (p.Pro1201=)
c.3579G>A (p.Pro1193=)
c.3549G>A (p.Pro1183=)
c.3531G>A (p.Pro1177=)
c.3477G>A (p.Pro1159=)
c.3396G>A (p.Pro1132=)
c.3339G>A (p.Pro1113=)
c.1425G>A (p.Pro475=)
c.603G>A (p.Pro201=)
n.3618G>A
c.3645G>A (p.Pro1215=)
c.3573G>A (p.Pro1191=)
c.3435G>A (p.Pro1145=)
c.1521G>A (p.Pro507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111643G>ACA7832737PKD1c.3524C>T (p.Pro1175Leu)
n.310+697C>T
n.430+697C>T
n.474C>T
c.233+173C>T
n.790+697C>T
c.473-3285C>T
n.773+697C>T
c.2226+697C>T (n.2226+697C>T)
n.421+697C>T
c.479C>T (p.Pro160Leu)
c.3602C>T (p.Pro1201Leu)
c.3578C>T (p.Pro1193Leu)
c.3548C>T (p.Pro1183Leu)
c.3530C>T (p.Pro1177Leu)
c.3476C>T (p.Pro1159Leu)
c.3395C>T (p.Pro1132Leu)
c.3338C>T (p.Pro1113Leu)
c.1424C>T (p.Pro475Leu)
c.602C>T (p.Pro201Leu)
n.3617C>T
c.3644C>T (p.Pro1215Leu)
c.3572C>T (p.Pro1191Leu)
c.3434C>T (p.Pro1145Leu)
c.1520C>T (p.Pro507Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111643G>CCA394382930PKD1c.3524C>G (p.Pro1175Arg)
n.310+697C>G
n.430+697C>G
n.474C>G
c.233+173C>G
n.790+697C>G
c.473-3285C>G
n.773+697C>G
c.2226+697C>G (n.2226+697C>G)
n.421+697C>G
c.479C>G (p.Pro160Arg)
c.3602C>G (p.Pro1201Arg)
c.3578C>G (p.Pro1193Arg)
c.3548C>G (p.Pro1183Arg)
c.3530C>G (p.Pro1177Arg)
c.3476C>G (p.Pro1159Arg)
c.3395C>G (p.Pro1132Arg)
c.3338C>G (p.Pro1113Arg)
c.1424C>G (p.Pro475Arg)
c.602C>G (p.Pro201Arg)
n.3617C>G
c.3644C>G (p.Pro1215Arg)
c.3572C>G (p.Pro1191Arg)
c.3434C>G (p.Pro1145Arg)
c.1520C>G (p.Pro507Arg)
16g.2111643G=CA2202047733PKD1c.3524C= (p.Pro1175=)
n.310+697C=
n.430+697C=
n.474C=
c.233+173C=
n.790+697C=
c.473-3285C=
n.773+697C=
c.2226+697C= (n.2226+697C=)
n.421+697C=
c.479C= (p.Pro160=)
c.3602C= (p.Pro1201=)
c.3578C= (p.Pro1193=)
c.3548C= (p.Pro1183=)
c.3530C= (p.Pro1177=)
c.3476C= (p.Pro1159=)
c.3395C= (p.Pro1132=)
c.3338C= (p.Pro1113=)
c.1424C= (p.Pro475=)
c.602C= (p.Pro201=)
n.3617C=
c.3644C= (p.Pro1215=)
c.3572C= (p.Pro1191=)
c.3434C= (p.Pro1145=)
c.1520C= (p.Pro507=)
16g.2111643G>TCA394382931PKD1c.3524C>A (p.Pro1175Gln)
n.310+697C>A
n.430+697C>A
n.474C>A
c.233+173C>A
n.790+697C>A
c.473-3285C>A
n.773+697C>A
c.2226+697C>A (n.2226+697C>A)
n.421+697C>A
c.479C>A (p.Pro160Gln)
c.3602C>A (p.Pro1201Gln)
c.3578C>A (p.Pro1193Gln)
c.3548C>A (p.Pro1183Gln)
c.3530C>A (p.Pro1177Gln)
c.3476C>A (p.Pro1159Gln)
c.3395C>A (p.Pro1132Gln)
c.3338C>A (p.Pro1113Gln)
c.1424C>A (p.Pro475Gln)
c.602C>A (p.Pro201Gln)
n.3617C>A
c.3644C>A (p.Pro1215Gln)
c.3572C>A (p.Pro1191Gln)
c.3434C>A (p.Pro1145Gln)
c.1520C>A (p.Pro507Gln)
 gnomAD v4
16g.2111644G>ACA7832738PKD1c.3523C>T (p.Pro1175Ser)
n.310+696C>T
n.430+696C>T
n.473C>T
c.233+172C>T
n.790+696C>T
c.473-3286C>T
n.773+696C>T
c.2226+696C>T (n.2226+696C>T)
n.421+696C>T
c.478C>T (p.Pro160Ser)
c.3601C>T (p.Pro1201Ser)
c.3577C>T (p.Pro1193Ser)
c.3547C>T (p.Pro1183Ser)
c.3529C>T (p.Pro1177Ser)
c.3475C>T (p.Pro1159Ser)
c.3394C>T (p.Pro1132Ser)
c.3337C>T (p.Pro1113Ser)
c.1423C>T (p.Pro475Ser)
c.601C>T (p.Pro201Ser)
n.3616C>T
c.3643C>T (p.Pro1215Ser)
c.3571C>T (p.Pro1191Ser)
c.3433C>T (p.Pro1145Ser)
c.1519C>T (p.Pro507Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111644G>CCA394382932PKD1c.3523C>G (p.Pro1175Ala)
n.310+696C>G
n.430+696C>G
n.473C>G
c.233+172C>G
n.790+696C>G
c.473-3286C>G
n.773+696C>G
c.2226+696C>G (n.2226+696C>G)
n.421+696C>G
c.478C>G (p.Pro160Ala)
c.3601C>G (p.Pro1201Ala)
c.3577C>G (p.Pro1193Ala)
c.3547C>G (p.Pro1183Ala)
c.3529C>G (p.Pro1177Ala)
c.3475C>G (p.Pro1159Ala)
c.3394C>G (p.Pro1132Ala)
c.3337C>G (p.Pro1113Ala)
c.1423C>G (p.Pro475Ala)
c.601C>G (p.Pro201Ala)
n.3616C>G
c.3643C>G (p.Pro1215Ala)
c.3571C>G (p.Pro1191Ala)
c.3433C>G (p.Pro1145Ala)
c.1519C>G (p.Pro507Ala)
 gnomAD v4
16g.2111644G=CA2202047734PKD1c.3523C= (p.Pro1175=)
n.310+696C=
n.430+696C=
n.473C=
c.233+172C=
n.790+696C=
c.473-3286C=
n.773+696C=
c.2226+696C= (n.2226+696C=)
n.421+696C=
c.478C= (p.Pro160=)
c.3601C= (p.Pro1201=)
c.3577C= (p.Pro1193=)
c.3547C= (p.Pro1183=)
c.3529C= (p.Pro1177=)
c.3475C= (p.Pro1159=)
c.3394C= (p.Pro1132=)
c.3337C= (p.Pro1113=)
c.1423C= (p.Pro475=)
c.601C= (p.Pro201=)
n.3616C=
c.3643C= (p.Pro1215=)
c.3571C= (p.Pro1191=)
c.3433C= (p.Pro1145=)
c.1519C= (p.Pro507=)
16g.2111644G>TCA394382933PKD1c.3523C>A (p.Pro1175Thr)
n.310+696C>A
n.430+696C>A
n.473C>A
c.233+172C>A
n.790+696C>A
c.473-3286C>A
n.773+696C>A
c.2226+696C>A (n.2226+696C>A)
n.421+696C>A
c.478C>A (p.Pro160Thr)
c.3601C>A (p.Pro1201Thr)
c.3577C>A (p.Pro1193Thr)
c.3547C>A (p.Pro1183Thr)
c.3529C>A (p.Pro1177Thr)
c.3475C>A (p.Pro1159Thr)
c.3394C>A (p.Pro1132Thr)
c.3337C>A (p.Pro1113Thr)
c.1423C>A (p.Pro475Thr)
c.601C>A (p.Pro201Thr)
n.3616C>A
c.3643C>A (p.Pro1215Thr)
c.3571C>A (p.Pro1191Thr)
c.3433C>A (p.Pro1145Thr)
c.1519C>A (p.Pro507Thr)
 gnomAD v4
16g.2111645C>ACA394382934PKD1c.3522G>T (p.Gln1174His)
n.310+695G>T
n.430+695G>T
n.472G>T
c.233+171G>T
n.790+695G>T
c.473-3287G>T
n.773+695G>T
c.2226+695G>T (n.2226+695G>T)
n.421+695G>T
c.477G>T (p.Gln159His)
c.3600G>T (p.Gln1200His)
c.3576G>T (p.Gln1192His)
c.3546G>T (p.Gln1182His)
c.3528G>T (p.Gln1176His)
c.3474G>T (p.Gln1158His)
c.3393G>T (p.Gln1131His)
c.3336G>T (p.Gln1112His)
c.1422G>T (p.Gln474His)
c.600G>T (p.Gln200His)
n.3615G>T
c.3642G>T (p.Gln1214His)
c.3570G>T (p.Gln1190His)
c.3432G>T (p.Gln1144His)
c.1518G>T (p.Gln506His)
16g.2111645C=CA2202047735PKD1c.3522G= (p.Gln1174=)
n.310+695G=
n.430+695G=
n.472G=
c.233+171G=
n.790+695G=
c.473-3287G=
n.773+695G=
c.2226+695G= (n.2226+695G=)
n.421+695G=
c.477G= (p.Gln159=)
c.3600G= (p.Gln1200=)
c.3576G= (p.Gln1192=)
c.3546G= (p.Gln1182=)
c.3528G= (p.Gln1176=)
c.3474G= (p.Gln1158=)
c.3393G= (p.Gln1131=)
c.3336G= (p.Gln1112=)
c.1422G= (p.Gln474=)
c.600G= (p.Gln200=)
n.3615G=
c.3642G= (p.Gln1214=)
c.3570G= (p.Gln1190=)
c.3432G= (p.Gln1144=)
c.1518G= (p.Gln506=)
16g.2111645C>GCA394382935PKD1c.3522G>C (p.Gln1174His)
n.310+695G>C
n.430+695G>C
n.472G>C
c.233+171G>C
n.790+695G>C
c.473-3287G>C
n.773+695G>C
c.2226+695G>C (n.2226+695G>C)
n.421+695G>C
c.477G>C (p.Gln159His)
c.3600G>C (p.Gln1200His)
c.3576G>C (p.Gln1192His)
c.3546G>C (p.Gln1182His)
c.3528G>C (p.Gln1176His)
c.3474G>C (p.Gln1158His)
c.3393G>C (p.Gln1131His)
c.3336G>C (p.Gln1112His)
c.1422G>C (p.Gln474His)
c.600G>C (p.Gln200His)
n.3615G>C
c.3642G>C (p.Gln1214His)
c.3570G>C (p.Gln1190His)
c.3432G>C (p.Gln1144His)
c.1518G>C (p.Gln506His)
 dbSNP
16g.2111645C>TCA493049699PKD1c.3522G>A (p.Gln1174=)
n.310+695G>A
n.430+695G>A
n.472G>A
c.233+171G>A
n.790+695G>A
c.473-3287G>A
n.773+695G>A
c.2226+695G>A (n.2226+695G>A)
n.421+695G>A
c.477G>A (p.Gln159=)
c.3600G>A (p.Gln1200=)
c.3576G>A (p.Gln1192=)
c.3546G>A (p.Gln1182=)
c.3528G>A (p.Gln1176=)
c.3474G>A (p.Gln1158=)
c.3393G>A (p.Gln1131=)
c.3336G>A (p.Gln1112=)
c.1422G>A (p.Gln474=)
c.600G>A (p.Gln200=)
n.3615G>A
c.3642G>A (p.Gln1214=)
c.3570G>A (p.Gln1190=)
c.3432G>A (p.Gln1144=)
c.1518G>A (p.Gln506=)
 dbSNP gnomAD v2 gnomAD v4
16g.2111646T>ACA394382936PKD1c.3521A>T (p.Gln1174Leu)
n.310+694A>T
n.430+694A>T
n.471A>T
c.233+170A>T
n.790+694A>T
c.473-3288A>T
n.773+694A>T
c.2226+694A>T (n.2226+694A>T)
n.421+694A>T
c.476A>T (p.Gln159Leu)
c.3599A>T (p.Gln1200Leu)
c.3575A>T (p.Gln1192Leu)
c.3545A>T (p.Gln1182Leu)
c.3527A>T (p.Gln1176Leu)
c.3473A>T (p.Gln1158Leu)
c.3392A>T (p.Gln1131Leu)
c.3335A>T (p.Gln1112Leu)
c.1421A>T (p.Gln474Leu)
c.599A>T (p.Gln200Leu)
n.3614A>T
c.3641A>T (p.Gln1214Leu)
c.3569A>T (p.Gln1190Leu)
c.3431A>T (p.Gln1144Leu)
c.1517A>T (p.Gln506Leu)
16g.2111646T>CCA394382937PKD1c.3521A>G (p.Gln1174Arg)
n.310+694A>G
n.430+694A>G
n.471A>G
c.233+170A>G
n.790+694A>G
c.473-3288A>G
n.773+694A>G
c.2226+694A>G (n.2226+694A>G)
n.421+694A>G
c.476A>G (p.Gln159Arg)
c.3599A>G (p.Gln1200Arg)
c.3575A>G (p.Gln1192Arg)
c.3545A>G (p.Gln1182Arg)
c.3527A>G (p.Gln1176Arg)
c.3473A>G (p.Gln1158Arg)
c.3392A>G (p.Gln1131Arg)
c.3335A>G (p.Gln1112Arg)
c.1421A>G (p.Gln474Arg)
c.599A>G (p.Gln200Arg)
n.3614A>G
c.3641A>G (p.Gln1214Arg)
c.3569A>G (p.Gln1190Arg)
c.3431A>G (p.Gln1144Arg)
c.1517A>G (p.Gln506Arg)
 gnomAD v4
16g.2111646T>GCA394382938PKD1c.3521A>C (p.Gln1174Pro)
n.310+694A>C
n.430+694A>C
n.471A>C
c.233+170A>C
n.790+694A>C
c.473-3288A>C
n.773+694A>C
c.2226+694A>C (n.2226+694A>C)
n.421+694A>C
c.476A>C (p.Gln159Pro)
c.3599A>C (p.Gln1200Pro)
c.3575A>C (p.Gln1192Pro)
c.3545A>C (p.Gln1182Pro)
c.3527A>C (p.Gln1176Pro)
c.3473A>C (p.Gln1158Pro)
c.3392A>C (p.Gln1131Pro)
c.3335A>C (p.Gln1112Pro)
c.1421A>C (p.Gln474Pro)
c.599A>C (p.Gln200Pro)
n.3614A>C
c.3641A>C (p.Gln1214Pro)
c.3569A>C (p.Gln1190Pro)
c.3431A>C (p.Gln1144Pro)
c.1517A>C (p.Gln506Pro)
 dbSNP
16g.2111646T=CA2202047736PKD1c.3521A= (p.Gln1174=)
n.310+694A=
n.430+694A=
n.471A=
c.233+170A=
n.790+694A=
c.473-3288A=
n.773+694A=
c.2226+694A= (n.2226+694A=)
n.421+694A=
c.476A= (p.Gln159=)
c.3599A= (p.Gln1200=)
c.3575A= (p.Gln1192=)
c.3545A= (p.Gln1182=)
c.3527A= (p.Gln1176=)
c.3473A= (p.Gln1158=)
c.3392A= (p.Gln1131=)
c.3335A= (p.Gln1112=)
c.1421A= (p.Gln474=)
c.599A= (p.Gln200=)
n.3614A=
c.3641A= (p.Gln1214=)
c.3569A= (p.Gln1190=)
c.3431A= (p.Gln1144=)
c.1517A= (p.Gln506=)
16g.2111646_2111647delCA2695222485PKD1c.3520_3521del (p.Gln1174AlafsTer?)
n.310+693_310+694del
n.430+693_430+694del
n.470_471del
c.233+169_233+170del
n.790+693_790+694del
c.473-3289_473-3288del
n.773+693_773+694del
c.2226+693_2226+694del (n.2226+693_2226+694del)
n.421+693_421+694del
c.475_476del (p.Gln159AlafsTer?)
c.3598_3599del (p.Gln1200AlafsTer?)
c.3574_3575del (p.Gln1192AlafsTer?)
c.3544_3545del (p.Gln1182AlafsTer?)
c.3526_3527del (p.Gln1176AlafsTer?)
c.3472_3473del (p.Gln1158AlafsTer?)
c.3391_3392del (p.Gln1131AlafsTer?)
c.3334_3335del (p.Gln1112AlafsTer?)
c.1420_1421del (p.Gln474AlafsTer?)
c.598_599del (p.Gln200AlafsTer?)
n.3613_3614del
c.3640_3641del (p.Gln1214AlafsTer?)
c.3568_3569del (p.Gln1190AlafsTer?)
c.3430_3431del (p.Gln1144AlafsTer?)
c.1516_1517del (p.Gln506AlafsTer?)
16g.2111647G>ACA16043509PKD1c.3520C>T (p.Gln1174Ter)
n.310+693C>T
n.430+693C>T
n.470C>T
c.233+169C>T
n.790+693C>T
c.473-3289C>T
n.773+693C>T
c.2226+693C>T (n.2226+693C>T)
n.421+693C>T
c.475C>T (p.Gln159Ter)
c.3598C>T (p.Gln1200Ter)
c.3574C>T (p.Gln1192Ter)
c.3544C>T (p.Gln1182Ter)
c.3526C>T (p.Gln1176Ter)
c.3472C>T (p.Gln1158Ter)
c.3391C>T (p.Gln1131Ter)
c.3334C>T (p.Gln1112Ter)
c.1420C>T (p.Gln474Ter)
c.598C>T (p.Gln200Ter)
n.3613C>T
c.3640C>T (p.Gln1214Ter)
c.3568C>T (p.Gln1190Ter)
c.3430C>T (p.Gln1144Ter)
c.1516C>T (p.Gln506Ter)
 ClinVar dbSNP
16g.2111647G>CCA394382940PKD1c.3520C>G (p.Gln1174Glu)
n.310+693C>G
n.430+693C>G
n.470C>G
c.233+169C>G
n.790+693C>G
c.473-3289C>G
n.773+693C>G
c.2226+693C>G (n.2226+693C>G)
n.421+693C>G
c.475C>G (p.Gln159Glu)
c.3598C>G (p.Gln1200Glu)
c.3574C>G (p.Gln1192Glu)
c.3544C>G (p.Gln1182Glu)
c.3526C>G (p.Gln1176Glu)
c.3472C>G (p.Gln1158Glu)
c.3391C>G (p.Gln1131Glu)
c.3334C>G (p.Gln1112Glu)
c.1420C>G (p.Gln474Glu)
c.598C>G (p.Gln200Glu)
n.3613C>G
c.3640C>G (p.Gln1214Glu)
c.3568C>G (p.Gln1190Glu)
c.3430C>G (p.Gln1144Glu)
c.1516C>G (p.Gln506Glu)
16g.2111647G=CA2202047737PKD1c.3520C= (p.Gln1174=)
n.310+693C=
n.430+693C=
n.470C=
c.233+169C=
n.790+693C=
c.473-3289C=
n.773+693C=
c.2226+693C= (n.2226+693C=)
n.421+693C=
c.475C= (p.Gln159=)
c.3598C= (p.Gln1200=)
c.3574C= (p.Gln1192=)
c.3544C= (p.Gln1182=)
c.3526C= (p.Gln1176=)
c.3472C= (p.Gln1158=)
c.3391C= (p.Gln1131=)
c.3334C= (p.Gln1112=)
c.1420C= (p.Gln474=)
c.598C= (p.Gln200=)
n.3613C=
c.3640C= (p.Gln1214=)
c.3568C= (p.Gln1190=)
c.3430C= (p.Gln1144=)
c.1516C= (p.Gln506=)
16g.2111647G>TCA394382939PKD1c.3520C>A (p.Gln1174Lys)
n.310+693C>A
n.430+693C>A
n.470C>A
c.233+169C>A
n.790+693C>A
c.473-3289C>A
n.773+693C>A
c.2226+693C>A (n.2226+693C>A)
n.421+693C>A
c.475C>A (p.Gln159Lys)
c.3598C>A (p.Gln1200Lys)
c.3574C>A (p.Gln1192Lys)
c.3544C>A (p.Gln1182Lys)
c.3526C>A (p.Gln1176Lys)
c.3472C>A (p.Gln1158Lys)
c.3391C>A (p.Gln1131Lys)
c.3334C>A (p.Gln1112Lys)
c.1420C>A (p.Gln474Lys)
c.598C>A (p.Gln200Lys)
n.3613C>A
c.3640C>A (p.Gln1214Lys)
c.3568C>A (p.Gln1190Lys)
c.3430C>A (p.Gln1144Lys)
c.1516C>A (p.Gln506Lys)
 gnomAD v4
16g.2111648G>ACA493049707PKD1c.3519C>T (p.Ser1173=)
n.310+692C>T
n.430+692C>T
n.469C>T
c.233+168C>T
n.790+692C>T
c.473-3290C>T
n.773+692C>T
c.2226+692C>T (n.2226+692C>T)
n.421+692C>T
c.474C>T (p.Ser158=)
c.3597C>T (p.Ser1199=)
c.3573C>T (p.Ser1191=)
c.3543C>T (p.Ser1181=)
c.3525C>T (p.Ser1175=)
c.3471C>T (p.Ser1157=)
c.3390C>T (p.Ser1130=)
c.3333C>T (p.Ser1111=)
c.1419C>T (p.Ser473=)
c.597C>T (p.Ser199=)
n.3612C>T
c.3639C>T (p.Ser1213=)
c.3567C>T (p.Ser1189=)
c.3429C>T (p.Ser1143=)
c.1515C>T (p.Ser505=)
 gnomAD v4
16g.2111648G>CCA7832739PKD1c.3519C>G (p.Ser1173Arg)
n.310+692C>G
n.430+692C>G
n.469C>G
c.233+168C>G
n.790+692C>G
c.473-3290C>G
n.773+692C>G
c.2226+692C>G (n.2226+692C>G)
n.421+692C>G
c.474C>G (p.Ser158Arg)
c.3597C>G (p.Ser1199Arg)
c.3573C>G (p.Ser1191Arg)
c.3543C>G (p.Ser1181Arg)
c.3525C>G (p.Ser1175Arg)
c.3471C>G (p.Ser1157Arg)
c.3390C>G (p.Ser1130Arg)
c.3333C>G (p.Ser1111Arg)
c.1419C>G (p.Ser473Arg)
c.597C>G (p.Ser199Arg)
n.3612C>G
c.3639C>G (p.Ser1213Arg)
c.3567C>G (p.Ser1189Arg)
c.3429C>G (p.Ser1143Arg)
c.1515C>G (p.Ser505Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111648G=CA2202047738PKD1c.3519C= (p.Ser1173=)
n.310+692C=
n.430+692C=
n.469C=
c.233+168C=
n.790+692C=
c.473-3290C=
n.773+692C=
c.2226+692C= (n.2226+692C=)
n.421+692C=
c.474C= (p.Ser158=)
c.3597C= (p.Ser1199=)
c.3573C= (p.Ser1191=)
c.3543C= (p.Ser1181=)
c.3525C= (p.Ser1175=)
c.3471C= (p.Ser1157=)
c.3390C= (p.Ser1130=)
c.3333C= (p.Ser1111=)
c.1419C= (p.Ser473=)
c.597C= (p.Ser199=)
n.3612C=
c.3639C= (p.Ser1213=)
c.3567C= (p.Ser1189=)
c.3429C= (p.Ser1143=)
c.1515C= (p.Ser505=)
16g.2111648G>TCA394382941PKD1c.3519C>A (p.Ser1173Arg)
n.310+692C>A
n.430+692C>A
n.469C>A
c.233+168C>A
n.790+692C>A
c.473-3290C>A
n.773+692C>A
c.2226+692C>A (n.2226+692C>A)
n.421+692C>A
c.474C>A (p.Ser158Arg)
c.3597C>A (p.Ser1199Arg)
c.3573C>A (p.Ser1191Arg)
c.3543C>A (p.Ser1181Arg)
c.3525C>A (p.Ser1175Arg)
c.3471C>A (p.Ser1157Arg)
c.3390C>A (p.Ser1130Arg)
c.3333C>A (p.Ser1111Arg)
c.1419C>A (p.Ser473Arg)
c.597C>A (p.Ser199Arg)
n.3612C>A
c.3639C>A (p.Ser1213Arg)
c.3567C>A (p.Ser1189Arg)
c.3429C>A (p.Ser1143Arg)
c.1515C>A (p.Ser505Arg)
 gnomAD v4
16g.2111649C>ACA394382942PKD1c.3518G>T (p.Ser1173Ile)
n.310+691G>T
n.430+691G>T
n.468G>T
c.233+167G>T
n.790+691G>T
c.473-3291G>T
n.773+691G>T
c.2226+691G>T (n.2226+691G>T)
n.421+691G>T
c.473G>T (p.Ser158Ile)
c.3596G>T (p.Ser1199Ile)
c.3572G>T (p.Ser1191Ile)
c.3542G>T (p.Ser1181Ile)
c.3524G>T (p.Ser1175Ile)
c.3470G>T (p.Ser1157Ile)
c.3389G>T (p.Ser1130Ile)
c.3332G>T (p.Ser1111Ile)
c.1418G>T (p.Ser473Ile)
c.596G>T (p.Ser199Ile)
n.3611G>T
c.3638G>T (p.Ser1213Ile)
c.3566G>T (p.Ser1189Ile)
c.3428G>T (p.Ser1143Ile)
c.1514G>T (p.Ser505Ile)
 gnomAD v4
16g.2111649C=CA2202047739PKD1c.3518G= (p.Ser1173=)
n.310+691G=
n.430+691G=
n.468G=
c.233+167G=
n.790+691G=
c.473-3291G=
n.773+691G=
c.2226+691G= (n.2226+691G=)
n.421+691G=
c.473G= (p.Ser158=)
c.3596G= (p.Ser1199=)
c.3572G= (p.Ser1191=)
c.3542G= (p.Ser1181=)
c.3524G= (p.Ser1175=)
c.3470G= (p.Ser1157=)
c.3389G= (p.Ser1130=)
c.3332G= (p.Ser1111=)
c.1418G= (p.Ser473=)
c.596G= (p.Ser199=)
n.3611G=
c.3638G= (p.Ser1213=)
c.3566G= (p.Ser1189=)
c.3428G= (p.Ser1143=)
c.1514G= (p.Ser505=)
16g.2111649C>GCA394382943PKD1c.3518G>C (p.Ser1173Thr)
n.310+691G>C
n.430+691G>C
n.468G>C
c.233+167G>C
n.790+691G>C
c.473-3291G>C
n.773+691G>C
c.2226+691G>C (n.2226+691G>C)
n.421+691G>C
c.473G>C (p.Ser158Thr)
c.3596G>C (p.Ser1199Thr)
c.3572G>C (p.Ser1191Thr)
c.3542G>C (p.Ser1181Thr)
c.3524G>C (p.Ser1175Thr)
c.3470G>C (p.Ser1157Thr)
c.3389G>C (p.Ser1130Thr)
c.3332G>C (p.Ser1111Thr)
c.1418G>C (p.Ser473Thr)
c.596G>C (p.Ser199Thr)
n.3611G>C
c.3638G>C (p.Ser1213Thr)
c.3566G>C (p.Ser1189Thr)
c.3428G>C (p.Ser1143Thr)
c.1514G>C (p.Ser505Thr)
16g.2111649C>TCA7832740PKD1c.3518G>A (p.Ser1173Asn)
n.310+691G>A
n.430+691G>A
n.468G>A
c.233+167G>A
n.790+691G>A
c.473-3291G>A
n.773+691G>A
c.2226+691G>A (n.2226+691G>A)
n.421+691G>A
c.473G>A (p.Ser158Asn)
c.3596G>A (p.Ser1199Asn)
c.3572G>A (p.Ser1191Asn)
c.3542G>A (p.Ser1181Asn)
c.3524G>A (p.Ser1175Asn)
c.3470G>A (p.Ser1157Asn)
c.3389G>A (p.Ser1130Asn)
c.3332G>A (p.Ser1111Asn)
c.1418G>A (p.Ser473Asn)
c.596G>A (p.Ser199Asn)
n.3611G>A
c.3638G>A (p.Ser1213Asn)
c.3566G>A (p.Ser1189Asn)
c.3428G>A (p.Ser1143Asn)
c.1514G>A (p.Ser505Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111650T>ACA394382944PKD1c.3517A>T (p.Ser1173Cys)
n.310+690A>T
n.430+690A>T
n.467A>T
c.233+166A>T
n.790+690A>T
c.473-3292A>T
n.773+690A>T
c.2226+690A>T (n.2226+690A>T)
n.421+690A>T
c.472A>T (p.Ser158Cys)
c.3595A>T (p.Ser1199Cys)
c.3571A>T (p.Ser1191Cys)
c.3541A>T (p.Ser1181Cys)
c.3523A>T (p.Ser1175Cys)
c.3469A>T (p.Ser1157Cys)
c.3388A>T (p.Ser1130Cys)
c.3331A>T (p.Ser1111Cys)
c.1417A>T (p.Ser473Cys)
c.595A>T (p.Ser199Cys)
n.3610A>T
c.3637A>T (p.Ser1213Cys)
c.3565A>T (p.Ser1189Cys)
c.3427A>T (p.Ser1143Cys)
c.1513A>T (p.Ser505Cys)
16g.2111650T>CCA394382945PKD1c.3517A>G (p.Ser1173Gly)
n.310+690A>G
n.430+690A>G
n.467A>G
c.233+166A>G
n.790+690A>G
c.473-3292A>G
n.773+690A>G
c.2226+690A>G (n.2226+690A>G)
n.421+690A>G
c.472A>G (p.Ser158Gly)
c.3595A>G (p.Ser1199Gly)
c.3571A>G (p.Ser1191Gly)
c.3541A>G (p.Ser1181Gly)
c.3523A>G (p.Ser1175Gly)
c.3469A>G (p.Ser1157Gly)
c.3388A>G (p.Ser1130Gly)
c.3331A>G (p.Ser1111Gly)
c.1417A>G (p.Ser473Gly)
c.595A>G (p.Ser199Gly)
n.3610A>G
c.3637A>G (p.Ser1213Gly)
c.3565A>G (p.Ser1189Gly)
c.3427A>G (p.Ser1143Gly)
c.1513A>G (p.Ser505Gly)
 gnomAD v4
16g.2111650T>GCA394382946PKD1c.3517A>C (p.Ser1173Arg)
n.310+690A>C
n.430+690A>C
n.467A>C
c.233+166A>C
n.790+690A>C
c.473-3292A>C
n.773+690A>C
c.2226+690A>C (n.2226+690A>C)
n.421+690A>C
c.472A>C (p.Ser158Arg)
c.3595A>C (p.Ser1199Arg)
c.3571A>C (p.Ser1191Arg)
c.3541A>C (p.Ser1181Arg)
c.3523A>C (p.Ser1175Arg)
c.3469A>C (p.Ser1157Arg)
c.3388A>C (p.Ser1130Arg)
c.3331A>C (p.Ser1111Arg)
c.1417A>C (p.Ser473Arg)
c.595A>C (p.Ser199Arg)
n.3610A>C
c.3637A>C (p.Ser1213Arg)
c.3565A>C (p.Ser1189Arg)
c.3427A>C (p.Ser1143Arg)
c.1513A>C (p.Ser505Arg)
16g.2111651C>ACA394382947PKD1c.3516G>T (p.Gln1172His)
n.310+689G>T
n.430+689G>T
n.466G>T
c.233+165G>T
n.790+689G>T
c.473-3293G>T
n.773+689G>T
c.2226+689G>T (n.2226+689G>T)
n.421+689G>T
c.471G>T (p.Gln157His)
c.3594G>T (p.Gln1198His)
c.3570G>T (p.Gln1190His)
c.3540G>T (p.Gln1180His)
c.3522G>T (p.Gln1174His)
c.3468G>T (p.Gln1156His)
c.3387G>T (p.Gln1129His)
c.3330G>T (p.Gln1110His)
c.1416G>T (p.Gln472His)
c.594G>T (p.Gln198His)
n.3609G>T
c.3636G>T (p.Gln1212His)
c.3564G>T (p.Gln1188His)
c.3426G>T (p.Gln1142His)
c.1512G>T (p.Gln504His)
 gnomAD v4
16g.2111651C>GCA394382948PKD1c.3516G>C (p.Gln1172His)
n.310+689G>C
n.430+689G>C
n.466G>C
c.233+165G>C
n.790+689G>C
c.473-3293G>C
n.773+689G>C
c.2226+689G>C (n.2226+689G>C)
n.421+689G>C
c.471G>C (p.Gln157His)
c.3594G>C (p.Gln1198His)
c.3570G>C (p.Gln1190His)
c.3540G>C (p.Gln1180His)
c.3522G>C (p.Gln1174His)
c.3468G>C (p.Gln1156His)
c.3387G>C (p.Gln1129His)
c.3330G>C (p.Gln1110His)
c.1416G>C (p.Gln472His)
c.594G>C (p.Gln198His)
n.3609G>C
c.3636G>C (p.Gln1212His)
c.3564G>C (p.Gln1188His)
c.3426G>C (p.Gln1142His)
c.1512G>C (p.Gln504His)
16g.2111651C>TCA493049718PKD1c.3516G>A (p.Gln1172=)
n.310+689G>A
n.430+689G>A
n.466G>A
c.233+165G>A
n.790+689G>A
c.473-3293G>A
n.773+689G>A
c.2226+689G>A (n.2226+689G>A)
n.421+689G>A
c.471G>A (p.Gln157=)
c.3594G>A (p.Gln1198=)
c.3570G>A (p.Gln1190=)
c.3540G>A (p.Gln1180=)
c.3522G>A (p.Gln1174=)
c.3468G>A (p.Gln1156=)
c.3387G>A (p.Gln1129=)
c.3330G>A (p.Gln1110=)
c.1416G>A (p.Gln472=)
c.594G>A (p.Gln198=)
n.3609G>A
c.3636G>A (p.Gln1212=)
c.3564G>A (p.Gln1188=)
c.3426G>A (p.Gln1142=)
c.1512G>A (p.Gln504=)
16g.2111652T>ACA394382949PKD1c.3515A>T (p.Gln1172Leu)
n.310+688A>T
n.430+688A>T
n.465A>T
c.233+164A>T
n.790+688A>T
c.473-3294A>T
n.773+688A>T
c.2226+688A>T (n.2226+688A>T)
n.421+688A>T
c.470A>T (p.Gln157Leu)
c.3593A>T (p.Gln1198Leu)
c.3569A>T (p.Gln1190Leu)
c.3539A>T (p.Gln1180Leu)
c.3521A>T (p.Gln1174Leu)
c.3467A>T (p.Gln1156Leu)
c.3386A>T (p.Gln1129Leu)
c.3329A>T (p.Gln1110Leu)
c.1415A>T (p.Gln472Leu)
c.593A>T (p.Gln198Leu)
n.3608A>T
c.3635A>T (p.Gln1212Leu)
c.3563A>T (p.Gln1188Leu)
c.3425A>T (p.Gln1142Leu)
c.1511A>T (p.Gln504Leu)
16g.2111652T>CCA394382950PKD1c.3515A>G (p.Gln1172Arg)
n.310+688A>G
n.430+688A>G
n.465A>G
c.233+164A>G
n.790+688A>G
c.473-3294A>G
n.773+688A>G
c.2226+688A>G (n.2226+688A>G)
n.421+688A>G
c.470A>G (p.Gln157Arg)
c.3593A>G (p.Gln1198Arg)
c.3569A>G (p.Gln1190Arg)
c.3539A>G (p.Gln1180Arg)
c.3521A>G (p.Gln1174Arg)
c.3467A>G (p.Gln1156Arg)
c.3386A>G (p.Gln1129Arg)
c.3329A>G (p.Gln1110Arg)
c.1415A>G (p.Gln472Arg)
c.593A>G (p.Gln198Arg)
n.3608A>G
c.3635A>G (p.Gln1212Arg)
c.3563A>G (p.Gln1188Arg)
c.3425A>G (p.Gln1142Arg)
c.1511A>G (p.Gln504Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.2111652T>GCA394382951PKD1c.3515A>C (p.Gln1172Pro)
n.310+688A>C
n.430+688A>C
n.465A>C
c.233+164A>C
n.790+688A>C
c.473-3294A>C
n.773+688A>C
c.2226+688A>C (n.2226+688A>C)
n.421+688A>C
c.470A>C (p.Gln157Pro)
c.3593A>C (p.Gln1198Pro)
c.3569A>C (p.Gln1190Pro)
c.3539A>C (p.Gln1180Pro)
c.3521A>C (p.Gln1174Pro)
c.3467A>C (p.Gln1156Pro)
c.3386A>C (p.Gln1129Pro)
c.3329A>C (p.Gln1110Pro)
c.1415A>C (p.Gln472Pro)
c.593A>C (p.Gln198Pro)
n.3608A>C
c.3635A>C (p.Gln1212Pro)
c.3563A>C (p.Gln1188Pro)
c.3425A>C (p.Gln1142Pro)
c.1511A>C (p.Gln504Pro)
16g.2111652T=CA2202047740PKD1c.3515A= (p.Gln1172=)
n.310+688A=
n.430+688A=
n.465A=
c.233+164A=
n.790+688A=
c.473-3294A=
n.773+688A=
c.2226+688A= (n.2226+688A=)
n.421+688A=
c.470A= (p.Gln157=)
c.3593A= (p.Gln1198=)
c.3569A= (p.Gln1190=)
c.3539A= (p.Gln1180=)
c.3521A= (p.Gln1174=)
c.3467A= (p.Gln1156=)
c.3386A= (p.Gln1129=)
c.3329A= (p.Gln1110=)
c.1415A= (p.Gln472=)
c.593A= (p.Gln198=)
n.3608A=
c.3635A= (p.Gln1212=)
c.3563A= (p.Gln1188=)
c.3425A= (p.Gln1142=)
c.1511A= (p.Gln504=)
16g.2111653G>ACA394382952PKD1c.3514C>T (p.Gln1172Ter)
n.310+687C>T
n.430+687C>T
n.464C>T
c.233+163C>T
n.790+687C>T
c.473-3295C>T
n.773+687C>T
c.2226+687C>T (n.2226+687C>T)
n.421+687C>T
c.469C>T (p.Gln157Ter)
c.3592C>T (p.Gln1198Ter)
c.3568C>T (p.Gln1190Ter)
c.3538C>T (p.Gln1180Ter)
c.3520C>T (p.Gln1174Ter)
c.3466C>T (p.Gln1156Ter)
c.3385C>T (p.Gln1129Ter)
c.3328C>T (p.Gln1110Ter)
c.1414C>T (p.Gln472Ter)
c.592C>T (p.Gln198Ter)
n.3607C>T
c.3634C>T (p.Gln1212Ter)
c.3562C>T (p.Gln1188Ter)
c.3424C>T (p.Gln1142Ter)
c.1510C>T (p.Gln504Ter)
16g.2111653G>CCA394382953PKD1c.3514C>G (p.Gln1172Glu)
n.310+687C>G
n.430+687C>G
n.464C>G
c.233+163C>G
n.790+687C>G
c.473-3295C>G
n.773+687C>G
c.2226+687C>G (n.2226+687C>G)
n.421+687C>G
c.469C>G (p.Gln157Glu)
c.3592C>G (p.Gln1198Glu)
c.3568C>G (p.Gln1190Glu)
c.3538C>G (p.Gln1180Glu)
c.3520C>G (p.Gln1174Glu)
c.3466C>G (p.Gln1156Glu)
c.3385C>G (p.Gln1129Glu)
c.3328C>G (p.Gln1110Glu)
c.1414C>G (p.Gln472Glu)
c.592C>G (p.Gln198Glu)
n.3607C>G
c.3634C>G (p.Gln1212Glu)
c.3562C>G (p.Gln1188Glu)
c.3424C>G (p.Gln1142Glu)
c.1510C>G (p.Gln504Glu)
 gnomAD v4
16g.2111653G=CA2202047741PKD1c.3514C= (p.Gln1172=)
n.310+687C=
n.430+687C=
n.464C=
c.233+163C=
n.790+687C=
c.473-3295C=
n.773+687C=
c.2226+687C= (n.2226+687C=)
n.421+687C=
c.469C= (p.Gln157=)
c.3592C= (p.Gln1198=)
c.3568C= (p.Gln1190=)
c.3538C= (p.Gln1180=)
c.3520C= (p.Gln1174=)
c.3466C= (p.Gln1156=)
c.3385C= (p.Gln1129=)
c.3328C= (p.Gln1110=)
c.1414C= (p.Gln472=)
c.592C= (p.Gln198=)
n.3607C=
c.3634C= (p.Gln1212=)
c.3562C= (p.Gln1188=)
c.3424C= (p.Gln1142=)
c.1510C= (p.Gln504=)
16g.2111653G>TCA7832741PKD1c.3514C>A (p.Gln1172Lys)
n.310+687C>A
n.430+687C>A
n.464C>A
c.233+163C>A
n.790+687C>A
c.473-3295C>A
n.773+687C>A
c.2226+687C>A (n.2226+687C>A)
n.421+687C>A
c.469C>A (p.Gln157Lys)
c.3592C>A (p.Gln1198Lys)
c.3568C>A (p.Gln1190Lys)
c.3538C>A (p.Gln1180Lys)
c.3520C>A (p.Gln1174Lys)
c.3466C>A (p.Gln1156Lys)
c.3385C>A (p.Gln1129Lys)
c.3328C>A (p.Gln1110Lys)
c.1414C>A (p.Gln472Lys)
c.592C>A (p.Gln198Lys)
n.3607C>A
c.3634C>A (p.Gln1212Lys)
c.3562C>A (p.Gln1188Lys)
c.3424C>A (p.Gln1142Lys)
c.1510C>A (p.Gln504Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111655delCA2631131468PKD1c.3514del (p.Gln1172ArgfsTer26)
n.310+687del
n.430+687del
n.464del
c.233+163del
n.790+687del
c.473-3295del
n.773+687del
c.2226+687del (n.2226+687del)
n.421+687del
c.469del (p.Gln157ArgfsTer26)
c.3592del (p.Gln1198ArgfsTer26)
c.3568del (p.Gln1190ArgfsTer26)
c.3538del (p.Gln1180ArgfsTer26)
c.3520del (p.Gln1174ArgfsTer26)
c.3466del (p.Gln1156ArgfsTer26)
c.3385del (p.Gln1129ArgfsTer26)
c.3328del (p.Gln1110ArgfsTer26)
c.1414del (p.Gln472ArgfsTer26)
c.592del (p.Gln198ArgfsTer26)
n.3607del
c.3634del (p.Gln1212ArgfsTer26)
c.3562del (p.Gln1188ArgfsTer26)
c.3424del (p.Gln1142ArgfsTer26)
c.1510del (p.Gln504ArgfsTer26)
 gnomAD v4
16g.2111654G>ACA7832743PKD1c.3513C>T (p.Thr1171=)
n.310+686C>T
n.430+686C>T
n.463C>T
c.233+162C>T
n.790+686C>T
c.473-3296C>T
n.773+686C>T
c.2226+686C>T (n.2226+686C>T)
n.421+686C>T
c.468C>T (p.Thr156=)
c.3591C>T (p.Thr1197=)
c.3567C>T (p.Thr1189=)
c.3537C>T (p.Thr1179=)
c.3519C>T (p.Thr1173=)
c.3465C>T (p.Thr1155=)
c.3384C>T (p.Thr1128=)
c.3327C>T (p.Thr1109=)
c.1413C>T (p.Thr471=)
c.591C>T (p.Thr197=)
n.3606C>T
c.3633C>T (p.Thr1211=)
c.3561C>T (p.Thr1187=)
c.3423C>T (p.Thr1141=)
c.1509C>T (p.Thr503=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111654G>CCA7832742PKD1c.3513C>G (p.Thr1171=)
n.310+686C>G
n.430+686C>G
n.463C>G
c.233+162C>G
n.790+686C>G
c.473-3296C>G
n.773+686C>G
c.2226+686C>G (n.2226+686C>G)
n.421+686C>G
c.468C>G (p.Thr156=)
c.3591C>G (p.Thr1197=)
c.3567C>G (p.Thr1189=)
c.3537C>G (p.Thr1179=)
c.3519C>G (p.Thr1173=)
c.3465C>G (p.Thr1155=)
c.3384C>G (p.Thr1128=)
c.3327C>G (p.Thr1109=)
c.1413C>G (p.Thr471=)
c.591C>G (p.Thr197=)
n.3606C>G
c.3633C>G (p.Thr1211=)
c.3561C>G (p.Thr1187=)
c.3423C>G (p.Thr1141=)
c.1509C>G (p.Thr503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111654G=CA2202047742PKD1c.3513C= (p.Thr1171=)
n.310+686C=
n.430+686C=
n.463C=
c.233+162C=
n.790+686C=
c.473-3296C=
n.773+686C=
c.2226+686C= (n.2226+686C=)
n.421+686C=
c.468C= (p.Thr156=)
c.3591C= (p.Thr1197=)
c.3567C= (p.Thr1189=)
c.3537C= (p.Thr1179=)
c.3519C= (p.Thr1173=)
c.3465C= (p.Thr1155=)
c.3384C= (p.Thr1128=)
c.3327C= (p.Thr1109=)
c.1413C= (p.Thr471=)
c.591C= (p.Thr197=)
n.3606C=
c.3633C= (p.Thr1211=)
c.3561C= (p.Thr1187=)
c.3423C= (p.Thr1141=)
c.1509C= (p.Thr503=)
16g.2111654G>TCA493049732PKD1c.3513C>A (p.Thr1171=)
n.310+686C>A
n.430+686C>A
n.463C>A
c.233+162C>A
n.790+686C>A
c.473-3296C>A
n.773+686C>A
c.2226+686C>A (n.2226+686C>A)
n.421+686C>A
c.468C>A (p.Thr156=)
c.3591C>A (p.Thr1197=)
c.3567C>A (p.Thr1189=)
c.3537C>A (p.Thr1179=)
c.3519C>A (p.Thr1173=)
c.3465C>A (p.Thr1155=)
c.3384C>A (p.Thr1128=)
c.3327C>A (p.Thr1109=)
c.1413C>A (p.Thr471=)
c.591C>A (p.Thr197=)
n.3606C>A
c.3633C>A (p.Thr1211=)
c.3561C>A (p.Thr1187=)
c.3423C>A (p.Thr1141=)
c.1509C>A (p.Thr503=)
 gnomAD v4
16g.2111655G>ACA394382954PKD1c.3512C>T (p.Thr1171Ile)
n.310+685C>T
n.430+685C>T
n.462C>T
c.233+161C>T
n.790+685C>T
c.473-3297C>T
n.773+685C>T
c.2226+685C>T (n.2226+685C>T)
n.421+685C>T
c.467C>T (p.Thr156Ile)
c.3590C>T (p.Thr1197Ile)
c.3566C>T (p.Thr1189Ile)
c.3536C>T (p.Thr1179Ile)
c.3518C>T (p.Thr1173Ile)
c.3464C>T (p.Thr1155Ile)
c.3383C>T (p.Thr1128Ile)
c.3326C>T (p.Thr1109Ile)
c.1412C>T (p.Thr471Ile)
c.590C>T (p.Thr197Ile)
n.3605C>T
c.3632C>T (p.Thr1211Ile)
c.3560C>T (p.Thr1187Ile)
c.3422C>T (p.Thr1141Ile)
c.1508C>T (p.Thr503Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.2111655G>CCA394382955PKD1c.3512C>G (p.Thr1171Ser)
n.310+685C>G
n.430+685C>G
n.462C>G
c.233+161C>G
n.790+685C>G
c.473-3297C>G
n.773+685C>G
c.2226+685C>G (n.2226+685C>G)
n.421+685C>G
c.467C>G (p.Thr156Ser)
c.3590C>G (p.Thr1197Ser)
c.3566C>G (p.Thr1189Ser)
c.3536C>G (p.Thr1179Ser)
c.3518C>G (p.Thr1173Ser)
c.3464C>G (p.Thr1155Ser)
c.3383C>G (p.Thr1128Ser)
c.3326C>G (p.Thr1109Ser)
c.1412C>G (p.Thr471Ser)
c.590C>G (p.Thr197Ser)
n.3605C>G
c.3632C>G (p.Thr1211Ser)
c.3560C>G (p.Thr1187Ser)
c.3422C>G (p.Thr1141Ser)
c.1508C>G (p.Thr503Ser)
16g.2111655G=CA2202047743PKD1c.3512C= (p.Thr1171=)
n.310+685C=
n.430+685C=
n.462C=
c.233+161C=
n.790+685C=
c.473-3297C=
n.773+685C=
c.2226+685C= (n.2226+685C=)
n.421+685C=
c.467C= (p.Thr156=)
c.3590C= (p.Thr1197=)
c.3566C= (p.Thr1189=)
c.3536C= (p.Thr1179=)
c.3518C= (p.Thr1173=)
c.3464C= (p.Thr1155=)
c.3383C= (p.Thr1128=)
c.3326C= (p.Thr1109=)
c.1412C= (p.Thr471=)
c.590C= (p.Thr197=)
n.3605C=
c.3632C= (p.Thr1211=)
c.3560C= (p.Thr1187=)
c.3422C= (p.Thr1141=)
c.1508C= (p.Thr503=)
16g.2111655G>TCA394382956PKD1c.3512C>A (p.Thr1171Asn)
n.310+685C>A
n.430+685C>A
n.462C>A
c.233+161C>A
n.790+685C>A
c.473-3297C>A
n.773+685C>A
c.2226+685C>A (n.2226+685C>A)
n.421+685C>A
c.467C>A (p.Thr156Asn)
c.3590C>A (p.Thr1197Asn)
c.3566C>A (p.Thr1189Asn)
c.3536C>A (p.Thr1179Asn)
c.3518C>A (p.Thr1173Asn)
c.3464C>A (p.Thr1155Asn)
c.3383C>A (p.Thr1128Asn)
c.3326C>A (p.Thr1109Asn)
c.1412C>A (p.Thr471Asn)
c.590C>A (p.Thr197Asn)
n.3605C>A
c.3632C>A (p.Thr1211Asn)
c.3560C>A (p.Thr1187Asn)
c.3422C>A (p.Thr1141Asn)
c.1508C>A (p.Thr503Asn)
 dbSNP gnomAD v3 gnomAD v4
16g.2111656T>ACA394382957PKD1c.3511A>T (p.Thr1171Ser)
n.310+684A>T
n.430+684A>T
n.461A>T
c.233+160A>T
n.790+684A>T
c.473-3298A>T
n.773+684A>T
c.2226+684A>T (n.2226+684A>T)
n.421+684A>T
c.466A>T (p.Thr156Ser)
c.3589A>T (p.Thr1197Ser)
c.3565A>T (p.Thr1189Ser)
c.3535A>T (p.Thr1179Ser)
c.3517A>T (p.Thr1173Ser)
c.3463A>T (p.Thr1155Ser)
c.3382A>T (p.Thr1128Ser)
c.3325A>T (p.Thr1109Ser)
c.1411A>T (p.Thr471Ser)
c.589A>T (p.Thr197Ser)
n.3604A>T
c.3631A>T (p.Thr1211Ser)
c.3559A>T (p.Thr1187Ser)
c.3421A>T (p.Thr1141Ser)
c.1507A>T (p.Thr503Ser)
16g.2111656T>CCA394382958PKD1c.3511A>G (p.Thr1171Ala)
n.310+684A>G
n.430+684A>G
n.461A>G
c.233+160A>G
n.790+684A>G
c.473-3298A>G
n.773+684A>G
c.2226+684A>G (n.2226+684A>G)
n.421+684A>G
c.466A>G (p.Thr156Ala)
c.3589A>G (p.Thr1197Ala)
c.3565A>G (p.Thr1189Ala)
c.3535A>G (p.Thr1179Ala)
c.3517A>G (p.Thr1173Ala)
c.3463A>G (p.Thr1155Ala)
c.3382A>G (p.Thr1128Ala)
c.3325A>G (p.Thr1109Ala)
c.1411A>G (p.Thr471Ala)
c.589A>G (p.Thr197Ala)
n.3604A>G
c.3631A>G (p.Thr1211Ala)
c.3559A>G (p.Thr1187Ala)
c.3421A>G (p.Thr1141Ala)
c.1507A>G (p.Thr503Ala)
16g.2111656T>GCA394382959PKD1c.3511A>C (p.Thr1171Pro)
n.310+684A>C
n.430+684A>C
n.461A>C
c.233+160A>C
n.790+684A>C
c.473-3298A>C
n.773+684A>C
c.2226+684A>C (n.2226+684A>C)
n.421+684A>C
c.466A>C (p.Thr156Pro)
c.3589A>C (p.Thr1197Pro)
c.3565A>C (p.Thr1189Pro)
c.3535A>C (p.Thr1179Pro)
c.3517A>C (p.Thr1173Pro)
c.3463A>C (p.Thr1155Pro)
c.3382A>C (p.Thr1128Pro)
c.3325A>C (p.Thr1109Pro)
c.1411A>C (p.Thr471Pro)
c.589A>C (p.Thr197Pro)
n.3604A>C
c.3631A>C (p.Thr1211Pro)
c.3559A>C (p.Thr1187Pro)
c.3421A>C (p.Thr1141Pro)
c.1507A>C (p.Thr503Pro)
 dbSNP gnomAD v2 gnomAD v4
16g.2111656T=CA2202047744PKD1c.3511A= (p.Thr1171=)
n.310+684A=
n.430+684A=
n.461A=
c.233+160A=
n.790+684A=
c.473-3298A=
n.773+684A=
c.2226+684A= (n.2226+684A=)
n.421+684A=
c.466A= (p.Thr156=)
c.3589A= (p.Thr1197=)
c.3565A= (p.Thr1189=)
c.3535A= (p.Thr1179=)
c.3517A= (p.Thr1173=)
c.3463A= (p.Thr1155=)
c.3382A= (p.Thr1128=)
c.3325A= (p.Thr1109=)
c.1411A= (p.Thr471=)
c.589A= (p.Thr197=)
n.3604A=
c.3631A= (p.Thr1211=)
c.3559A= (p.Thr1187=)
c.3421A= (p.Thr1141=)
c.1507A= (p.Thr503=)
16g.2111657C>ACA493049737PKD1c.3510G>T (p.Leu1170=)
n.310+683G>T
n.430+683G>T
n.460G>T
c.233+159G>T
n.790+683G>T
c.473-3299G>T
n.773+683G>T
c.2226+683G>T (n.2226+683G>T)
n.421+683G>T
c.465G>T (p.Leu155=)
c.3588G>T (p.Leu1196=)
c.3564G>T (p.Leu1188=)
c.3534G>T (p.Leu1178=)
c.3516G>T (p.Leu1172=)
c.3462G>T (p.Leu1154=)
c.3381G>T (p.Leu1127=)
c.3324G>T (p.Leu1108=)
c.1410G>T (p.Leu470=)
c.588G>T (p.Leu196=)
n.3603G>T
c.3630G>T (p.Leu1210=)
c.3558G>T (p.Leu1186=)
c.3420G>T (p.Leu1140=)
c.1506G>T (p.Leu502=)
 gnomAD v4
16g.2111657C=CA2202047745PKD1c.3510G= (p.Leu1170=)
n.310+683G=
n.430+683G=
n.460G=
c.233+159G=
n.790+683G=
c.473-3299G=
n.773+683G=
c.2226+683G= (n.2226+683G=)
n.421+683G=
c.465G= (p.Leu155=)
c.3588G= (p.Leu1196=)
c.3564G= (p.Leu1188=)
c.3534G= (p.Leu1178=)
c.3516G= (p.Leu1172=)
c.3462G= (p.Leu1154=)
c.3381G= (p.Leu1127=)
c.3324G= (p.Leu1108=)
c.1410G= (p.Leu470=)
c.588G= (p.Leu196=)
n.3603G=
c.3630G= (p.Leu1210=)
c.3558G= (p.Leu1186=)
c.3420G= (p.Leu1140=)
c.1506G= (p.Leu502=)
16g.2111657C>GCA493049739PKD1c.3510G>C (p.Leu1170=)
n.310+683G>C
n.430+683G>C
n.460G>C
c.233+159G>C
n.790+683G>C
c.473-3299G>C
n.773+683G>C
c.2226+683G>C (n.2226+683G>C)
n.421+683G>C
c.465G>C (p.Leu155=)
c.3588G>C (p.Leu1196=)
c.3564G>C (p.Leu1188=)
c.3534G>C (p.Leu1178=)
c.3516G>C (p.Leu1172=)
c.3462G>C (p.Leu1154=)
c.3381G>C (p.Leu1127=)
c.3324G>C (p.Leu1108=)
c.1410G>C (p.Leu470=)
c.588G>C (p.Leu196=)
n.3603G>C
c.3630G>C (p.Leu1210=)
c.3558G>C (p.Leu1186=)
c.3420G>C (p.Leu1140=)
c.1506G>C (p.Leu502=)
16g.2111657C>TCA7832744PKD1c.3510G>A (p.Leu1170=)
n.310+683G>A
n.430+683G>A
n.460G>A
c.233+159G>A
n.790+683G>A
c.473-3299G>A
n.773+683G>A
c.2226+683G>A (n.2226+683G>A)
n.421+683G>A
c.465G>A (p.Leu155=)
c.3588G>A (p.Leu1196=)
c.3564G>A (p.Leu1188=)
c.3534G>A (p.Leu1178=)
c.3516G>A (p.Leu1172=)
c.3462G>A (p.Leu1154=)
c.3381G>A (p.Leu1127=)
c.3324G>A (p.Leu1108=)
c.1410G>A (p.Leu470=)
c.588G>A (p.Leu196=)
n.3603G>A
c.3630G>A (p.Leu1210=)
c.3558G>A (p.Leu1186=)
c.3420G>A (p.Leu1140=)
c.1506G>A (p.Leu502=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111658A=CA2202047746PKD1c.3509T= (p.Leu1170=)
n.310+682T=
n.430+682T=
n.459T=
c.233+158T=
n.790+682T=
c.473-3300T=
n.773+682T=
c.2226+682T= (n.2226+682T=)
n.421+682T=
c.464T= (p.Leu155=)
c.3587T= (p.Leu1196=)
c.3563T= (p.Leu1188=)
c.3533T= (p.Leu1178=)
c.3515T= (p.Leu1172=)
c.3461T= (p.Leu1154=)
c.3380T= (p.Leu1127=)
c.3323T= (p.Leu1108=)
c.1409T= (p.Leu470=)
c.587T= (p.Leu196=)
n.3602T=
c.3629T= (p.Leu1210=)
c.3557T= (p.Leu1186=)
c.3419T= (p.Leu1140=)
c.1505T= (p.Leu502=)
16g.2111658A>CCA394382960PKD1c.3509T>G (p.Leu1170Arg)
n.310+682T>G
n.430+682T>G
n.459T>G
c.233+158T>G
n.790+682T>G
c.473-3300T>G
n.773+682T>G
c.2226+682T>G (n.2226+682T>G)
n.421+682T>G
c.464T>G (p.Leu155Arg)
c.3587T>G (p.Leu1196Arg)
c.3563T>G (p.Leu1188Arg)
c.3533T>G (p.Leu1178Arg)
c.3515T>G (p.Leu1172Arg)
c.3461T>G (p.Leu1154Arg)
c.3380T>G (p.Leu1127Arg)
c.3323T>G (p.Leu1108Arg)
c.1409T>G (p.Leu470Arg)
c.587T>G (p.Leu196Arg)
n.3602T>G
c.3629T>G (p.Leu1210Arg)
c.3557T>G (p.Leu1186Arg)
c.3419T>G (p.Leu1140Arg)
c.1505T>G (p.Leu502Arg)
 gnomAD v4
16g.2111658A>GCA394382961PKD1c.3509T>C (p.Leu1170Pro)
n.310+682T>C
n.430+682T>C
n.459T>C
c.233+158T>C
n.790+682T>C
c.473-3300T>C
n.773+682T>C
c.2226+682T>C (n.2226+682T>C)
n.421+682T>C
c.464T>C (p.Leu155Pro)
c.3587T>C (p.Leu1196Pro)
c.3563T>C (p.Leu1188Pro)
c.3533T>C (p.Leu1178Pro)
c.3515T>C (p.Leu1172Pro)
c.3461T>C (p.Leu1154Pro)
c.3380T>C (p.Leu1127Pro)
c.3323T>C (p.Leu1108Pro)
c.1409T>C (p.Leu470Pro)
c.587T>C (p.Leu196Pro)
n.3602T>C
c.3629T>C (p.Leu1210Pro)
c.3557T>C (p.Leu1186Pro)
c.3419T>C (p.Leu1140Pro)
c.1505T>C (p.Leu502Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.2111658A>TCA394382962PKD1c.3509T>A (p.Leu1170Gln)
n.310+682T>A
n.430+682T>A
n.459T>A
c.233+158T>A
n.790+682T>A
c.473-3300T>A
n.773+682T>A
c.2226+682T>A (n.2226+682T>A)
n.421+682T>A
c.464T>A (p.Leu155Gln)
c.3587T>A (p.Leu1196Gln)
c.3563T>A (p.Leu1188Gln)
c.3533T>A (p.Leu1178Gln)
c.3515T>A (p.Leu1172Gln)
c.3461T>A (p.Leu1154Gln)
c.3380T>A (p.Leu1127Gln)
c.3323T>A (p.Leu1108Gln)
c.1409T>A (p.Leu470Gln)
c.587T>A (p.Leu196Gln)
n.3602T>A
c.3629T>A (p.Leu1210Gln)
c.3557T>A (p.Leu1186Gln)
c.3419T>A (p.Leu1140Gln)
c.1505T>A (p.Leu502Gln)
16g.2111659G>ACA493049747PKD1c.3508C>T (p.Leu1170=)
n.310+681C>T
n.430+681C>T
n.458C>T
c.233+157C>T
n.790+681C>T
c.473-3301C>T
n.773+681C>T
c.2226+681C>T (n.2226+681C>T)
n.421+681C>T
c.463C>T (p.Leu155=)
c.3586C>T (p.Leu1196=)
c.3562C>T (p.Leu1188=)
c.3532C>T (p.Leu1178=)
c.3514C>T (p.Leu1172=)
c.3460C>T (p.Leu1154=)
c.3379C>T (p.Leu1127=)
c.3322C>T (p.Leu1108=)
c.1408C>T (p.Leu470=)
c.586C>T (p.Leu196=)
n.3601C>T
c.3628C>T (p.Leu1210=)
c.3556C>T (p.Leu1186=)
c.3418C>T (p.Leu1140=)
c.1504C>T (p.Leu502=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111659G>CCA394382963PKD1c.3508C>G (p.Leu1170Val)
n.310+681C>G
n.430+681C>G
n.458C>G
c.233+157C>G
n.790+681C>G
c.473-3301C>G
n.773+681C>G
c.2226+681C>G (n.2226+681C>G)
n.421+681C>G
c.463C>G (p.Leu155Val)
c.3586C>G (p.Leu1196Val)
c.3562C>G (p.Leu1188Val)
c.3532C>G (p.Leu1178Val)
c.3514C>G (p.Leu1172Val)
c.3460C>G (p.Leu1154Val)
c.3379C>G (p.Leu1127Val)
c.3322C>G (p.Leu1108Val)
c.1408C>G (p.Leu470Val)
c.586C>G (p.Leu196Val)
n.3601C>G
c.3628C>G (p.Leu1210Val)
c.3556C>G (p.Leu1186Val)
c.3418C>G (p.Leu1140Val)
c.1504C>G (p.Leu502Val)
16g.2111659G=CA2202047747PKD1c.3508C= (p.Leu1170=)
n.310+681C=
n.430+681C=
n.458C=
c.233+157C=
n.790+681C=
c.473-3301C=
n.773+681C=
c.2226+681C= (n.2226+681C=)
n.421+681C=
c.463C= (p.Leu155=)
c.3586C= (p.Leu1196=)
c.3562C= (p.Leu1188=)
c.3532C= (p.Leu1178=)
c.3514C= (p.Leu1172=)
c.3460C= (p.Leu1154=)
c.3379C= (p.Leu1127=)
c.3322C= (p.Leu1108=)
c.1408C= (p.Leu470=)
c.586C= (p.Leu196=)
n.3601C=
c.3628C= (p.Leu1210=)
c.3556C= (p.Leu1186=)
c.3418C= (p.Leu1140=)
c.1504C= (p.Leu502=)
16g.2111659G>TCA394382964PKD1c.3508C>A (p.Leu1170Met)
n.310+681C>A
n.430+681C>A
n.458C>A
c.233+157C>A
n.790+681C>A
c.473-3301C>A
n.773+681C>A
c.2226+681C>A (n.2226+681C>A)
n.421+681C>A
c.463C>A (p.Leu155Met)
c.3586C>A (p.Leu1196Met)
c.3562C>A (p.Leu1188Met)
c.3532C>A (p.Leu1178Met)
c.3514C>A (p.Leu1172Met)
c.3460C>A (p.Leu1154Met)
c.3379C>A (p.Leu1127Met)
c.3322C>A (p.Leu1108Met)
c.1408C>A (p.Leu470Met)
c.586C>A (p.Leu196Met)
n.3601C>A
c.3628C>A (p.Leu1210Met)
c.3556C>A (p.Leu1186Met)
c.3418C>A (p.Leu1140Met)
c.1504C>A (p.Leu502Met)
 gnomAD v4
16g.2111660G>ACA493049753PKD1c.3507C>T (p.Val1169=)
n.310+680C>T
n.430+680C>T
n.457C>T
c.233+156C>T
n.790+680C>T
c.473-3302C>T
n.773+680C>T
c.2226+680C>T (n.2226+680C>T)
n.421+680C>T
c.462C>T (p.Val154=)
c.3585C>T (p.Val1195=)
c.3561C>T (p.Val1187=)
c.3531C>T (p.Val1177=)
c.3513C>T (p.Val1171=)
c.3459C>T (p.Val1153=)
c.3378C>T (p.Val1126=)
c.3321C>T (p.Val1107=)
c.1407C>T (p.Val469=)
c.585C>T (p.Val195=)
n.3600C>T
c.3627C>T (p.Val1209=)
c.3555C>T (p.Val1185=)
c.3417C>T (p.Val1139=)
c.1503C>T (p.Val501=)
16g.2111660G>CCA493049754PKD1c.3507C>G (p.Val1169=)
n.310+680C>G
n.430+680C>G
n.457C>G
c.233+156C>G
n.790+680C>G
c.473-3302C>G
n.773+680C>G
c.2226+680C>G (n.2226+680C>G)
n.421+680C>G
c.462C>G (p.Val154=)
c.3585C>G (p.Val1195=)
c.3561C>G (p.Val1187=)
c.3531C>G (p.Val1177=)
c.3513C>G (p.Val1171=)
c.3459C>G (p.Val1153=)
c.3378C>G (p.Val1126=)
c.3321C>G (p.Val1107=)
c.1407C>G (p.Val469=)
c.585C>G (p.Val195=)
n.3600C>G
c.3627C>G (p.Val1209=)
c.3555C>G (p.Val1185=)
c.3417C>G (p.Val1139=)
c.1503C>G (p.Val501=)
 dbSNP gnomAD v4
16g.2111660G=CA2202047748PKD1c.3507C= (p.Val1169=)
n.310+680C=
n.430+680C=
n.457C=
c.233+156C=
n.790+680C=
c.473-3302C=
n.773+680C=
c.2226+680C= (n.2226+680C=)
n.421+680C=
c.462C= (p.Val154=)
c.3585C= (p.Val1195=)
c.3561C= (p.Val1187=)
c.3531C= (p.Val1177=)
c.3513C= (p.Val1171=)
c.3459C= (p.Val1153=)
c.3378C= (p.Val1126=)
c.3321C= (p.Val1107=)
c.1407C= (p.Val469=)
c.585C= (p.Val195=)
n.3600C=
c.3627C= (p.Val1209=)
c.3555C= (p.Val1185=)
c.3417C= (p.Val1139=)
c.1503C= (p.Val501=)
16g.2111660G>TCA493049755PKD1c.3507C>A (p.Val1169=)
n.310+680C>A
n.430+680C>A
n.457C>A
c.233+156C>A
n.790+680C>A
c.473-3302C>A
n.773+680C>A
c.2226+680C>A (n.2226+680C>A)
n.421+680C>A
c.462C>A (p.Val154=)
c.3585C>A (p.Val1195=)
c.3561C>A (p.Val1187=)
c.3531C>A (p.Val1177=)
c.3513C>A (p.Val1171=)
c.3459C>A (p.Val1153=)
c.3378C>A (p.Val1126=)
c.3321C>A (p.Val1107=)
c.1407C>A (p.Val469=)
c.585C>A (p.Val195=)
n.3600C>A
c.3627C>A (p.Val1209=)
c.3555C>A (p.Val1185=)
c.3417C>A (p.Val1139=)
c.1503C>A (p.Val501=)
 gnomAD v4
16g.2111660_2111661dupCA2837995383PKD1c.3506_3507dup (p.Leu1170SerfsTer2)
n.310+679_310+680dup
n.430+679_430+680dup
n.456_457dup
c.233+155_233+156dup
n.790+679_790+680dup
c.473-3303_473-3302dup
n.773+679_773+680dup
c.2226+679_2226+680dup (n.2226+679_2226+680dup)
n.421+679_421+680dup
c.461_462dup (p.Leu155SerfsTer2)
c.3584_3585dup (p.Leu1196SerfsTer2)
c.3560_3561dup (p.Leu1188SerfsTer2)
c.3530_3531dup (p.Leu1178SerfsTer2)
c.3512_3513dup (p.Leu1172SerfsTer2)
c.3458_3459dup (p.Leu1154SerfsTer2)
c.3377_3378dup (p.Leu1127SerfsTer2)
c.3320_3321dup (p.Leu1108SerfsTer2)
c.1406_1407dup (p.Leu470SerfsTer2)
c.584_585dup (p.Leu196SerfsTer2)
n.3599_3600dup
c.3626_3627dup (p.Leu1210SerfsTer2)
c.3554_3555dup (p.Leu1186SerfsTer2)
c.3416_3417dup (p.Leu1140SerfsTer2)
c.1502_1503dup (p.Leu502SerfsTer2)
16g.2111661A>CCA394382965PKD1c.3506T>G (p.Val1169Gly)
n.310+679T>G
n.430+679T>G
n.456T>G
c.233+155T>G
n.790+679T>G
c.473-3303T>G
n.773+679T>G
c.2226+679T>G (n.2226+679T>G)
n.421+679T>G
c.461T>G (p.Val154Gly)
c.3584T>G (p.Val1195Gly)
c.3560T>G (p.Val1187Gly)
c.3530T>G (p.Val1177Gly)
c.3512T>G (p.Val1171Gly)
c.3458T>G (p.Val1153Gly)
c.3377T>G (p.Val1126Gly)
c.3320T>G (p.Val1107Gly)
c.1406T>G (p.Val469Gly)
c.584T>G (p.Val195Gly)
n.3599T>G
c.3626T>G (p.Val1209Gly)
c.3554T>G (p.Val1185Gly)
c.3416T>G (p.Val1139Gly)
c.1502T>G (p.Val501Gly)
16g.2111661A>GCA394382967PKD1c.3506T>C (p.Val1169Ala)
n.310+679T>C
n.430+679T>C
n.456T>C
c.233+155T>C
n.790+679T>C
c.473-3303T>C
n.773+679T>C
c.2226+679T>C (n.2226+679T>C)
n.421+679T>C
c.461T>C (p.Val154Ala)
c.3584T>C (p.Val1195Ala)
c.3560T>C (p.Val1187Ala)
c.3530T>C (p.Val1177Ala)
c.3512T>C (p.Val1171Ala)
c.3458T>C (p.Val1153Ala)
c.3377T>C (p.Val1126Ala)
c.3320T>C (p.Val1107Ala)
c.1406T>C (p.Val469Ala)
c.584T>C (p.Val195Ala)
n.3599T>C
c.3626T>C (p.Val1209Ala)
c.3554T>C (p.Val1185Ala)
c.3416T>C (p.Val1139Ala)
c.1502T>C (p.Val501Ala)
 gnomAD v4
16g.2111661A>TCA394382966PKD1c.3506T>A (p.Val1169Asp)
n.310+679T>A
n.430+679T>A
n.456T>A
c.233+155T>A
n.790+679T>A
c.473-3303T>A
n.773+679T>A
c.2226+679T>A (n.2226+679T>A)
n.421+679T>A
c.461T>A (p.Val154Asp)
c.3584T>A (p.Val1195Asp)
c.3560T>A (p.Val1187Asp)
c.3530T>A (p.Val1177Asp)
c.3512T>A (p.Val1171Asp)
c.3458T>A (p.Val1153Asp)
c.3377T>A (p.Val1126Asp)
c.3320T>A (p.Val1107Asp)
c.1406T>A (p.Val469Asp)
c.584T>A (p.Val195Asp)
n.3599T>A
c.3626T>A (p.Val1209Asp)
c.3554T>A (p.Val1185Asp)
c.3416T>A (p.Val1139Asp)
c.1502T>A (p.Val501Asp)
 gnomAD v4
16g.2111662C>ACA7832745PKD1c.3505G>T (p.Val1169Phe)
n.310+678G>T
n.430+678G>T
n.455G>T
c.233+154G>T
n.790+678G>T
c.473-3304G>T
n.773+678G>T
c.2226+678G>T (n.2226+678G>T)
n.421+678G>T
c.460G>T (p.Val154Phe)
c.3583G>T (p.Val1195Phe)
c.3559G>T (p.Val1187Phe)
c.3529G>T (p.Val1177Phe)
c.3511G>T (p.Val1171Phe)
c.3457G>T (p.Val1153Phe)
c.3376G>T (p.Val1126Phe)
c.3319G>T (p.Val1107Phe)
c.1405G>T (p.Val469Phe)
c.583G>T (p.Val195Phe)
n.3598G>T
c.3625G>T (p.Val1209Phe)
c.3553G>T (p.Val1185Phe)
c.3415G>T (p.Val1139Phe)
c.1501G>T (p.Val501Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111662C=CA2202047749PKD1c.3505G= (p.Val1169=)
n.310+678G=
n.430+678G=
n.455G=
c.233+154G=
n.790+678G=
c.473-3304G=
n.773+678G=
c.2226+678G= (n.2226+678G=)
n.421+678G=
c.460G= (p.Val154=)
c.3583G= (p.Val1195=)
c.3559G= (p.Val1187=)
c.3529G= (p.Val1177=)
c.3511G= (p.Val1171=)
c.3457G= (p.Val1153=)
c.3376G= (p.Val1126=)
c.3319G= (p.Val1107=)
c.1405G= (p.Val469=)
c.583G= (p.Val195=)
n.3598G=
c.3625G= (p.Val1209=)
c.3553G= (p.Val1185=)
c.3415G= (p.Val1139=)
c.1501G= (p.Val501=)
16g.2111662C>GCA394382968PKD1c.3505G>C (p.Val1169Leu)
n.310+678G>C
n.430+678G>C
n.455G>C
c.233+154G>C
n.790+678G>C
c.473-3304G>C
n.773+678G>C
c.2226+678G>C (n.2226+678G>C)
n.421+678G>C
c.460G>C (p.Val154Leu)
c.3583G>C (p.Val1195Leu)
c.3559G>C (p.Val1187Leu)
c.3529G>C (p.Val1177Leu)
c.3511G>C (p.Val1171Leu)
c.3457G>C (p.Val1153Leu)
c.3376G>C (p.Val1126Leu)
c.3319G>C (p.Val1107Leu)
c.1405G>C (p.Val469Leu)
c.583G>C (p.Val195Leu)
n.3598G>C
c.3625G>C (p.Val1209Leu)
c.3553G>C (p.Val1185Leu)
c.3415G>C (p.Val1139Leu)
c.1501G>C (p.Val501Leu)
 dbSNP
16g.2111662C>TCA394382969PKD1c.3505G>A (p.Val1169Ile)
n.310+678G>A
n.430+678G>A
n.455G>A
c.233+154G>A
n.790+678G>A
c.473-3304G>A
n.773+678G>A
c.2226+678G>A (n.2226+678G>A)
n.421+678G>A
c.460G>A (p.Val154Ile)
c.3583G>A (p.Val1195Ile)
c.3559G>A (p.Val1187Ile)
c.3529G>A (p.Val1177Ile)
c.3511G>A (p.Val1171Ile)
c.3457G>A (p.Val1153Ile)
c.3376G>A (p.Val1126Ile)
c.3319G>A (p.Val1107Ile)
c.1405G>A (p.Val469Ile)
c.583G>A (p.Val195Ile)
n.3598G>A
c.3625G>A (p.Val1209Ile)
c.3553G>A (p.Val1185Ile)
c.3415G>A (p.Val1139Ile)
c.1501G>A (p.Val501Ile)
 gnomAD v4
16g.2111663delCA2631131675PKD1c.3504del (p.Val1169SerfsTer2)
n.310+677del
n.430+677del
n.454del
c.233+153del
n.790+677del
c.473-3305del
n.773+677del
c.2226+677del (n.2226+677del)
n.421+677del
c.459del (p.Val154SerfsTer2)
c.3582del (p.Val1195SerfsTer2)
c.3558del (p.Val1187SerfsTer2)
c.3528del (p.Val1177SerfsTer2)
c.3510del (p.Val1171SerfsTer2)
c.3456del (p.Val1153SerfsTer2)
c.3375del (p.Val1126SerfsTer2)
c.3318del (p.Val1107SerfsTer2)
c.1404del (p.Val469SerfsTer2)
c.582del (p.Val195SerfsTer2)
n.3597del
c.3624del (p.Val1209SerfsTer2)
c.3552del (p.Val1185SerfsTer2)
c.3414del (p.Val1139SerfsTer2)
c.1500del (p.Val501SerfsTer2)
 gnomAD v4
16g.2111663A=CA2202047750PKD1c.3504T= (p.Pro1168=)
n.310+677T=
n.430+677T=
n.454T=
c.233+153T=
n.790+677T=
c.473-3305T=
n.773+677T=
c.2226+677T= (n.2226+677T=)
n.421+677T=
c.459T= (p.Pro153=)
c.3582T= (p.Pro1194=)
c.3558T= (p.Pro1186=)
c.3528T= (p.Pro1176=)
c.3510T= (p.Pro1170=)
c.3456T= (p.Pro1152=)
c.3375T= (p.Pro1125=)
c.3318T= (p.Pro1106=)
c.1404T= (p.Pro468=)
c.582T= (p.Pro194=)
n.3597T=
c.3624T= (p.Pro1208=)
c.3552T= (p.Pro1184=)
c.3414T= (p.Pro1138=)
c.1500T= (p.Pro500=)
16g.2111663A>CCA493049759PKD1c.3504T>G (p.Pro1168=)
n.310+677T>G
n.430+677T>G
n.454T>G
c.233+153T>G
n.790+677T>G
c.473-3305T>G
n.773+677T>G
c.2226+677T>G (n.2226+677T>G)
n.421+677T>G
c.459T>G (p.Pro153=)
c.3582T>G (p.Pro1194=)
c.3558T>G (p.Pro1186=)
c.3528T>G (p.Pro1176=)
c.3510T>G (p.Pro1170=)
c.3456T>G (p.Pro1152=)
c.3375T>G (p.Pro1125=)
c.3318T>G (p.Pro1106=)
c.1404T>G (p.Pro468=)
c.582T>G (p.Pro194=)
n.3597T>G
c.3624T>G (p.Pro1208=)
c.3552T>G (p.Pro1184=)
c.3414T>G (p.Pro1138=)
c.1500T>G (p.Pro500=)
16g.2111663A>GCA493049763PKD1c.3504T>C (p.Pro1168=)
n.310+677T>C
n.430+677T>C
n.454T>C
c.233+153T>C
n.790+677T>C
c.473-3305T>C
n.773+677T>C
c.2226+677T>C (n.2226+677T>C)
n.421+677T>C
c.459T>C (p.Pro153=)
c.3582T>C (p.Pro1194=)
c.3558T>C (p.Pro1186=)
c.3528T>C (p.Pro1176=)
c.3510T>C (p.Pro1170=)
c.3456T>C (p.Pro1152=)
c.3375T>C (p.Pro1125=)
c.3318T>C (p.Pro1106=)
c.1404T>C (p.Pro468=)
c.582T>C (p.Pro194=)
n.3597T>C
c.3624T>C (p.Pro1208=)
c.3552T>C (p.Pro1184=)
c.3414T>C (p.Pro1138=)
c.1500T>C (p.Pro500=)
 gnomAD v4
16g.2111663A>TCA493049764PKD1c.3504T>A (p.Pro1168=)
n.310+677T>A
n.430+677T>A
n.454T>A
c.233+153T>A
n.790+677T>A
c.473-3305T>A
n.773+677T>A
c.2226+677T>A (n.2226+677T>A)
n.421+677T>A
c.459T>A (p.Pro153=)
c.3582T>A (p.Pro1194=)
c.3558T>A (p.Pro1186=)
c.3528T>A (p.Pro1176=)
c.3510T>A (p.Pro1170=)
c.3456T>A (p.Pro1152=)
c.3375T>A (p.Pro1125=)
c.3318T>A (p.Pro1106=)
c.1404T>A (p.Pro468=)
c.582T>A (p.Pro194=)
n.3597T>A
c.3624T>A (p.Pro1208=)
c.3552T>A (p.Pro1184=)
c.3414T>A (p.Pro1138=)
c.1500T>A (p.Pro500=)
 gnomAD v4
16g.2111663_2111664delCA2695222486PKD1c.3503_3504del (p.Pro1168ArgfsTer?)
n.310+676_310+677del
n.430+676_430+677del
n.453_454del
c.233+152_233+153del
n.790+676_790+677del
c.473-3306_473-3305del
n.773+676_773+677del
c.2226+676_2226+677del (n.2226+676_2226+677del)
n.421+676_421+677del
c.458_459del (p.Pro153ArgfsTer?)
c.3581_3582del (p.Pro1194ArgfsTer?)
c.3557_3558del (p.Pro1186ArgfsTer?)
c.3527_3528del (p.Pro1176ArgfsTer?)
c.3509_3510del (p.Pro1170ArgfsTer?)
c.3455_3456del (p.Pro1152ArgfsTer?)
c.3374_3375del (p.Pro1125ArgfsTer?)
c.3317_3318del (p.Pro1106ArgfsTer?)
c.1403_1404del (p.Pro468ArgfsTer?)
c.581_582del (p.Pro194ArgfsTer?)
n.3596_3597del
c.3623_3624del (p.Pro1208ArgfsTer?)
c.3551_3552del (p.Pro1184ArgfsTer?)
c.3413_3414del (p.Pro1138ArgfsTer?)
c.1499_1500del (p.Pro500ArgfsTer?)
16g.2111664G>ACA394382970PKD1c.3503C>T (p.Pro1168Leu)
n.310+676C>T
n.430+676C>T
n.453C>T
c.233+152C>T
n.790+676C>T
c.473-3306C>T
n.773+676C>T
c.2226+676C>T (n.2226+676C>T)
n.421+676C>T
c.458C>T (p.Pro153Leu)
c.3581C>T (p.Pro1194Leu)
c.3557C>T (p.Pro1186Leu)
c.3527C>T (p.Pro1176Leu)
c.3509C>T (p.Pro1170Leu)
c.3455C>T (p.Pro1152Leu)
c.3374C>T (p.Pro1125Leu)
c.3317C>T (p.Pro1106Leu)
c.1403C>T (p.Pro468Leu)
c.581C>T (p.Pro194Leu)
n.3596C>T
c.3623C>T (p.Pro1208Leu)
c.3551C>T (p.Pro1184Leu)
c.3413C>T (p.Pro1138Leu)
c.1499C>T (p.Pro500Leu)
 gnomAD v4
16g.2111664G>CCA394382971PKD1c.3503C>G (p.Pro1168Arg)
n.310+676C>G
n.430+676C>G
n.453C>G
c.233+152C>G
n.790+676C>G
c.473-3306C>G
n.773+676C>G
c.2226+676C>G (n.2226+676C>G)
n.421+676C>G
c.458C>G (p.Pro153Arg)
c.3581C>G (p.Pro1194Arg)
c.3557C>G (p.Pro1186Arg)
c.3527C>G (p.Pro1176Arg)
c.3509C>G (p.Pro1170Arg)
c.3455C>G (p.Pro1152Arg)
c.3374C>G (p.Pro1125Arg)
c.3317C>G (p.Pro1106Arg)
c.1403C>G (p.Pro468Arg)
c.581C>G (p.Pro194Arg)
n.3596C>G
c.3623C>G (p.Pro1208Arg)
c.3551C>G (p.Pro1184Arg)
c.3413C>G (p.Pro1138Arg)
c.1499C>G (p.Pro500Arg)
16g.2111664G>TCA394382972PKD1c.3503C>A (p.Pro1168His)
n.310+676C>A
n.430+676C>A
n.453C>A
c.233+152C>A
n.790+676C>A
c.473-3306C>A
n.773+676C>A
c.2226+676C>A (n.2226+676C>A)
n.421+676C>A
c.458C>A (p.Pro153His)
c.3581C>A (p.Pro1194His)
c.3557C>A (p.Pro1186His)
c.3527C>A (p.Pro1176His)
c.3509C>A (p.Pro1170His)
c.3455C>A (p.Pro1152His)
c.3374C>A (p.Pro1125His)
c.3317C>A (p.Pro1106His)
c.1403C>A (p.Pro468His)
c.581C>A (p.Pro194His)
n.3596C>A
c.3623C>A (p.Pro1208His)
c.3551C>A (p.Pro1184His)
c.3413C>A (p.Pro1138His)
c.1499C>A (p.Pro500His)
16g.2111667dupCA645373039PKD1c.3503dup (p.Val1169CysfsTer?)
n.310+676dup
n.430+676dup
n.453dup
c.233+152dup
n.790+676dup
c.473-3306dup
n.773+676dup
c.2226+676dup (n.2226+676dup)
n.421+676dup
c.458dup (p.Val154CysfsTer?)
c.3581dup (p.Val1195CysfsTer?)
c.3557dup (p.Val1187CysfsTer?)
c.3527dup (p.Val1177CysfsTer?)
c.3509dup (p.Val1171CysfsTer?)
c.3455dup (p.Val1153CysfsTer?)
c.3374dup (p.Val1126CysfsTer?)
c.3317dup (p.Val1107CysfsTer?)
c.1403dup (p.Val469CysfsTer?)
c.581dup (p.Val195CysfsTer?)
n.3596dup
c.3623dup (p.Val1209CysfsTer?)
c.3551dup (p.Val1185CysfsTer?)
c.3413dup (p.Val1139CysfsTer?)
c.1499dup (p.Val501CysfsTer?)
 ClinVar dbSNP
16g.2111667delCA2695222487PKD1c.3503del (p.Pro1168LeufsTer3)
n.310+676del
n.430+676del
n.453del
c.233+152del
n.790+676del
c.473-3306del
n.773+676del
c.2226+676del (n.2226+676del)
n.421+676del
c.458del (p.Pro153LeufsTer3)
c.3581del (p.Pro1194LeufsTer3)
c.3557del (p.Pro1186LeufsTer3)
c.3527del (p.Pro1176LeufsTer3)
c.3509del (p.Pro1170LeufsTer3)
c.3455del (p.Pro1152LeufsTer3)
c.3374del (p.Pro1125LeufsTer3)
c.3317del (p.Pro1106LeufsTer3)
c.1403del (p.Pro468LeufsTer3)
c.581del (p.Pro194LeufsTer3)
n.3596del
c.3623del (p.Pro1208LeufsTer3)
c.3551del (p.Pro1184LeufsTer3)
c.3413del (p.Pro1138LeufsTer3)
c.1499del (p.Pro500LeufsTer3)
16g.2111665G>ACA7832746PKD1c.3502C>T (p.Pro1168Ser)
n.310+675C>T
n.430+675C>T
n.452C>T
c.233+151C>T
n.790+675C>T
c.473-3307C>T
n.773+675C>T
c.2226+675C>T (n.2226+675C>T)
n.421+675C>T
c.457C>T (p.Pro153Ser)
c.3580C>T (p.Pro1194Ser)
c.3556C>T (p.Pro1186Ser)
c.3526C>T (p.Pro1176Ser)
c.3508C>T (p.Pro1170Ser)
c.3454C>T (p.Pro1152Ser)
c.3373C>T (p.Pro1125Ser)
c.3316C>T (p.Pro1106Ser)
c.1402C>T (p.Pro468Ser)
c.580C>T (p.Pro194Ser)
n.3595C>T
c.3622C>T (p.Pro1208Ser)
c.3550C>T (p.Pro1184Ser)
c.3412C>T (p.Pro1138Ser)
c.1498C>T (p.Pro500Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111665G>CCA276781906PKD1c.3502C>G (p.Pro1168Ala)
n.310+675C>G
n.430+675C>G
n.452C>G
c.233+151C>G
n.790+675C>G
c.473-3307C>G
n.773+675C>G
c.2226+675C>G (n.2226+675C>G)
n.421+675C>G
c.457C>G (p.Pro153Ala)
c.3580C>G (p.Pro1194Ala)
c.3556C>G (p.Pro1186Ala)
c.3526C>G (p.Pro1176Ala)
c.3508C>G (p.Pro1170Ala)
c.3454C>G (p.Pro1152Ala)
c.3373C>G (p.Pro1125Ala)
c.3316C>G (p.Pro1106Ala)
c.1402C>G (p.Pro468Ala)
c.580C>G (p.Pro194Ala)
n.3595C>G
c.3622C>G (p.Pro1208Ala)
c.3550C>G (p.Pro1184Ala)
c.3412C>G (p.Pro1138Ala)
c.1498C>G (p.Pro500Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111665G=CA2202047751PKD1c.3502C= (p.Pro1168=)
n.310+675C=
n.430+675C=
n.452C=
c.233+151C=
n.790+675C=
c.473-3307C=
n.773+675C=
c.2226+675C= (n.2226+675C=)
n.421+675C=
c.457C= (p.Pro153=)
c.3580C= (p.Pro1194=)
c.3556C= (p.Pro1186=)
c.3526C= (p.Pro1176=)
c.3508C= (p.Pro1170=)
c.3454C= (p.Pro1152=)
c.3373C= (p.Pro1125=)
c.3316C= (p.Pro1106=)
c.1402C= (p.Pro468=)
c.580C= (p.Pro194=)
n.3595C=
c.3622C= (p.Pro1208=)
c.3550C= (p.Pro1184=)
c.3412C= (p.Pro1138=)
c.1498C= (p.Pro500=)
16g.2111665G>TCA394382973PKD1c.3502C>A (p.Pro1168Thr)
n.310+675C>A
n.430+675C>A
n.452C>A
c.233+151C>A
n.790+675C>A
c.473-3307C>A
n.773+675C>A
c.2226+675C>A (n.2226+675C>A)
n.421+675C>A
c.457C>A (p.Pro153Thr)
c.3580C>A (p.Pro1194Thr)
c.3556C>A (p.Pro1186Thr)
c.3526C>A (p.Pro1176Thr)
c.3508C>A (p.Pro1170Thr)
c.3454C>A (p.Pro1152Thr)
c.3373C>A (p.Pro1125Thr)
c.3316C>A (p.Pro1106Thr)
c.1402C>A (p.Pro468Thr)
c.580C>A (p.Pro194Thr)
n.3595C>A
c.3622C>A (p.Pro1208Thr)
c.3550C>A (p.Pro1184Thr)
c.3412C>A (p.Pro1138Thr)
c.1498C>A (p.Pro500Thr)
 gnomAD v4
16g.2111666G>ACA7832747PKD1c.3501C>T (p.Ser1167=)
n.310+674C>T
n.430+674C>T
n.451C>T
c.233+150C>T
n.790+674C>T
c.473-3308C>T
n.773+674C>T
c.2226+674C>T (n.2226+674C>T)
n.421+674C>T
c.456C>T (p.Ser152=)
c.3579C>T (p.Ser1193=)
c.3555C>T (p.Ser1185=)
c.3525C>T (p.Ser1175=)
c.3507C>T (p.Ser1169=)
c.3453C>T (p.Ser1151=)
c.3372C>T (p.Ser1124=)
c.3315C>T (p.Ser1105=)
c.1401C>T (p.Ser467=)
c.579C>T (p.Ser193=)
n.3594C>T
c.3621C>T (p.Ser1207=)
c.3549C>T (p.Ser1183=)
c.3411C>T (p.Ser1137=)
c.1497C>T (p.Ser499=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111666G>CCA493049780PKD1c.3501C>G (p.Ser1167=)
n.310+674C>G
n.430+674C>G
n.451C>G
c.233+150C>G
n.790+674C>G
c.473-3308C>G
n.773+674C>G
c.2226+674C>G (n.2226+674C>G)
n.421+674C>G
c.456C>G (p.Ser152=)
c.3579C>G (p.Ser1193=)
c.3555C>G (p.Ser1185=)
c.3525C>G (p.Ser1175=)
c.3507C>G (p.Ser1169=)
c.3453C>G (p.Ser1151=)
c.3372C>G (p.Ser1124=)
c.3315C>G (p.Ser1105=)
c.1401C>G (p.Ser467=)
c.579C>G (p.Ser193=)
n.3594C>G
c.3621C>G (p.Ser1207=)
c.3549C>G (p.Ser1183=)
c.3411C>G (p.Ser1137=)
c.1497C>G (p.Ser499=)
 gnomAD v4
16g.2111666G=CA2202047752PKD1c.3501C= (p.Ser1167=)
n.310+674C=
n.430+674C=
n.451C=
c.233+150C=
n.790+674C=
c.473-3308C=
n.773+674C=
c.2226+674C= (n.2226+674C=)
n.421+674C=
c.456C= (p.Ser152=)
c.3579C= (p.Ser1193=)
c.3555C= (p.Ser1185=)
c.3525C= (p.Ser1175=)
c.3507C= (p.Ser1169=)
c.3453C= (p.Ser1151=)
c.3372C= (p.Ser1124=)
c.3315C= (p.Ser1105=)
c.1401C= (p.Ser467=)
c.579C= (p.Ser193=)
n.3594C=
c.3621C= (p.Ser1207=)
c.3549C= (p.Ser1183=)
c.3411C= (p.Ser1137=)
c.1497C= (p.Ser499=)
16g.2111666G>TCA493049775PKD1c.3501C>A (p.Ser1167=)
n.310+674C>A
n.430+674C>A
n.451C>A
c.233+150C>A
n.790+674C>A
c.473-3308C>A
n.773+674C>A
c.2226+674C>A (n.2226+674C>A)
n.421+674C>A
c.456C>A (p.Ser152=)
c.3579C>A (p.Ser1193=)
c.3555C>A (p.Ser1185=)
c.3525C>A (p.Ser1175=)
c.3507C>A (p.Ser1169=)
c.3453C>A (p.Ser1151=)
c.3372C>A (p.Ser1124=)
c.3315C>A (p.Ser1105=)
c.1401C>A (p.Ser467=)
c.579C>A (p.Ser193=)
n.3594C>A
c.3621C>A (p.Ser1207=)
c.3549C>A (p.Ser1183=)
c.3411C>A (p.Ser1137=)
c.1497C>A (p.Ser499=)
 dbSNP gnomAD v2 gnomAD v4
16g.2111667_2111669delCA2631131824PKD1c.3499_3501del (p.Ser1167del)
n.310+672_310+674del
n.430+672_430+674del
n.449_451del
c.233+148_233+150del
n.790+672_790+674del
c.473-3310_473-3308del
n.773+672_773+674del
c.2226+672_2226+674del (n.2226+672_2226+674del)
n.421+672_421+674del
c.454_456del (p.Ser152del)
c.3577_3579del (p.Ser1193del)
c.3553_3555del (p.Ser1185del)
c.3523_3525del (p.Ser1175del)
c.3505_3507del (p.Ser1169del)
c.3451_3453del (p.Ser1151del)
c.3370_3372del (p.Ser1124del)
c.3313_3315del (p.Ser1105del)
c.1399_1401del (p.Ser467del)
c.577_579del (p.Ser193del)
n.3592_3594del
c.3619_3621del (p.Ser1207del)
c.3547_3549del (p.Ser1183del)
c.3409_3411del (p.Ser1137del)
c.1495_1497del (p.Ser499del)
 gnomAD v4
16g.2111667G>ACA7832748PKD1c.3500C>T (p.Ser1167Phe)
n.310+673C>T
n.430+673C>T
n.450C>T
c.233+149C>T
n.790+673C>T
c.473-3309C>T
n.773+673C>T
c.2226+673C>T (n.2226+673C>T)
n.421+673C>T
c.455C>T (p.Ser152Phe)
c.3578C>T (p.Ser1193Phe)
c.3554C>T (p.Ser1185Phe)
c.3524C>T (p.Ser1175Phe)
c.3506C>T (p.Ser1169Phe)
c.3452C>T (p.Ser1151Phe)
c.3371C>T (p.Ser1124Phe)
c.3314C>T (p.Ser1105Phe)
c.1400C>T (p.Ser467Phe)
c.578C>T (p.Ser193Phe)
n.3593C>T
c.3620C>T (p.Ser1207Phe)
c.3548C>T (p.Ser1183Phe)
c.3410C>T (p.Ser1137Phe)
c.1496C>T (p.Ser499Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111667G>CCA394382975PKD1c.3500C>G (p.Ser1167Cys)
n.310+673C>G
n.430+673C>G
n.450C>G
c.233+149C>G
n.790+673C>G
c.473-3309C>G
n.773+673C>G
c.2226+673C>G (n.2226+673C>G)
n.421+673C>G
c.455C>G (p.Ser152Cys)
c.3578C>G (p.Ser1193Cys)
c.3554C>G (p.Ser1185Cys)
c.3524C>G (p.Ser1175Cys)
c.3506C>G (p.Ser1169Cys)
c.3452C>G (p.Ser1151Cys)
c.3371C>G (p.Ser1124Cys)
c.3314C>G (p.Ser1105Cys)
c.1400C>G (p.Ser467Cys)
c.578C>G (p.Ser193Cys)
n.3593C>G
c.3620C>G (p.Ser1207Cys)
c.3548C>G (p.Ser1183Cys)
c.3410C>G (p.Ser1137Cys)
c.1496C>G (p.Ser499Cys)
16g.2111667G=CA2202047753PKD1c.3500C= (p.Ser1167=)
n.310+673C=
n.430+673C=
n.450C=
c.233+149C=
n.790+673C=
c.473-3309C=
n.773+673C=
c.2226+673C= (n.2226+673C=)
n.421+673C=
c.455C= (p.Ser152=)
c.3578C= (p.Ser1193=)
c.3554C= (p.Ser1185=)
c.3524C= (p.Ser1175=)
c.3506C= (p.Ser1169=)
c.3452C= (p.Ser1151=)
c.3371C= (p.Ser1124=)
c.3314C= (p.Ser1105=)
c.1400C= (p.Ser467=)
c.578C= (p.Ser193=)
n.3593C=
c.3620C= (p.Ser1207=)
c.3548C= (p.Ser1183=)
c.3410C= (p.Ser1137=)
c.1496C= (p.Ser499=)
16g.2111667G>TCA394382974PKD1c.3500C>A (p.Ser1167Tyr)
n.310+673C>A
n.430+673C>A
n.450C>A
c.233+149C>A
n.790+673C>A
c.473-3309C>A
n.773+673C>A
c.2226+673C>A (n.2226+673C>A)
n.421+673C>A
c.455C>A (p.Ser152Tyr)
c.3578C>A (p.Ser1193Tyr)
c.3554C>A (p.Ser1185Tyr)
c.3524C>A (p.Ser1175Tyr)
c.3506C>A (p.Ser1169Tyr)
c.3452C>A (p.Ser1151Tyr)
c.3371C>A (p.Ser1124Tyr)
c.3314C>A (p.Ser1105Tyr)
c.1400C>A (p.Ser467Tyr)
c.578C>A (p.Ser193Tyr)
n.3593C>A
c.3620C>A (p.Ser1207Tyr)
c.3548C>A (p.Ser1183Tyr)
c.3410C>A (p.Ser1137Tyr)
c.1496C>A (p.Ser499Tyr)
 gnomAD v4
16g.2111667_2111670delinsTTTCTCA2695222488PKD1c.3497_3500delinsAGAAA (p.Gly1166GlufsTer?)
n.310+670_310+673delinsAGAAA
n.430+670_430+673delinsAGAAA
n.447_450delinsAGAAA
c.233+146_233+149delinsAGAAA
n.790+670_790+673delinsAGAAA
c.473-3312_473-3309delinsAGAAA
n.773+670_773+673delinsAGAAA
c.2226+670_2226+673delinsAGAAA (n.2226+670_2226+673delinsAGAAA)
n.421+670_421+673delinsAGAAA
c.452_455delinsAGAAA (p.Gly151GlufsTer?)
c.3575_3578delinsAGAAA (p.Gly1192GlufsTer?)
c.3551_3554delinsAGAAA (p.Gly1184GlufsTer?)
c.3521_3524delinsAGAAA (p.Gly1174GlufsTer?)
c.3503_3506delinsAGAAA (p.Gly1168GlufsTer?)
c.3449_3452delinsAGAAA (p.Gly1150GlufsTer?)
c.3368_3371delinsAGAAA (p.Gly1123GlufsTer?)
c.3311_3314delinsAGAAA (p.Gly1104GlufsTer?)
c.1397_1400delinsAGAAA (p.Gly466GlufsTer?)
c.575_578delinsAGAAA (p.Gly192GlufsTer?)
n.3590_3593delinsAGAAA
c.3617_3620delinsAGAAA (p.Gly1206GlufsTer?)
c.3545_3548delinsAGAAA (p.Gly1182GlufsTer?)
c.3407_3410delinsAGAAA (p.Gly1136GlufsTer?)
c.1493_1496delinsAGAAA (p.Gly498GlufsTer?)
16g.2111668A=CA2202047754PKD1c.3499T= (p.Ser1167=)
n.310+672T=
n.430+672T=
n.449T=
c.233+148T=
n.790+672T=
c.473-3310T=
n.773+672T=
c.2226+672T= (n.2226+672T=)
n.421+672T=
c.454T= (p.Ser152=)
c.3577T= (p.Ser1193=)
c.3553T= (p.Ser1185=)
c.3523T= (p.Ser1175=)
c.3505T= (p.Ser1169=)
c.3451T= (p.Ser1151=)
c.3370T= (p.Ser1124=)
c.3313T= (p.Ser1105=)
c.1399T= (p.Ser467=)
c.577T= (p.Ser193=)
n.3592T=
c.3619T= (p.Ser1207=)
c.3547T= (p.Ser1183=)
c.3409T= (p.Ser1137=)
c.1495T= (p.Ser499=)
16g.2111668A>CCA394382976PKD1c.3499T>G (p.Ser1167Ala)
n.310+672T>G
n.430+672T>G
n.449T>G
c.233+148T>G
n.790+672T>G
c.473-3310T>G
n.773+672T>G
c.2226+672T>G (n.2226+672T>G)
n.421+672T>G
c.454T>G (p.Ser152Ala)
c.3577T>G (p.Ser1193Ala)
c.3553T>G (p.Ser1185Ala)
c.3523T>G (p.Ser1175Ala)
c.3505T>G (p.Ser1169Ala)
c.3451T>G (p.Ser1151Ala)
c.3370T>G (p.Ser1124Ala)
c.3313T>G (p.Ser1105Ala)
c.1399T>G (p.Ser467Ala)
c.577T>G (p.Ser193Ala)
n.3592T>G
c.3619T>G (p.Ser1207Ala)
c.3547T>G (p.Ser1183Ala)
c.3409T>G (p.Ser1137Ala)
c.1495T>G (p.Ser499Ala)
16g.2111668A>GCA7832749PKD1c.3499T>C (p.Ser1167Pro)
n.310+672T>C
n.430+672T>C
n.449T>C
c.233+148T>C
n.790+672T>C
c.473-3310T>C
n.773+672T>C
c.2226+672T>C (n.2226+672T>C)
n.421+672T>C
c.454T>C (p.Ser152Pro)
c.3577T>C (p.Ser1193Pro)
c.3553T>C (p.Ser1185Pro)
c.3523T>C (p.Ser1175Pro)
c.3505T>C (p.Ser1169Pro)
c.3451T>C (p.Ser1151Pro)
c.3370T>C (p.Ser1124Pro)
c.3313T>C (p.Ser1105Pro)
c.1399T>C (p.Ser467Pro)
c.577T>C (p.Ser193Pro)
n.3592T>C
c.3619T>C (p.Ser1207Pro)
c.3547T>C (p.Ser1183Pro)
c.3409T>C (p.Ser1137Pro)
c.1495T>C (p.Ser499Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111668A>TCA394382977PKD1c.3499T>A (p.Ser1167Thr)
n.310+672T>A
n.430+672T>A
n.449T>A
c.233+148T>A
n.790+672T>A
c.473-3310T>A
n.773+672T>A
c.2226+672T>A (n.2226+672T>A)
n.421+672T>A
c.454T>A (p.Ser152Thr)
c.3577T>A (p.Ser1193Thr)
c.3553T>A (p.Ser1185Thr)
c.3523T>A (p.Ser1175Thr)
c.3505T>A (p.Ser1169Thr)
c.3451T>A (p.Ser1151Thr)
c.3370T>A (p.Ser1124Thr)
c.3313T>A (p.Ser1105Thr)
c.1399T>A (p.Ser467Thr)
c.577T>A (p.Ser193Thr)
n.3592T>A
c.3619T>A (p.Ser1207Thr)
c.3547T>A (p.Ser1183Thr)
c.3409T>A (p.Ser1137Thr)
c.1495T>A (p.Ser499Thr)
16g.2111669G>ACA7832750PKD1c.3498C>T (p.Gly1166=)
n.310+671C>T
n.430+671C>T
n.448C>T
c.233+147C>T
n.790+671C>T
c.473-3311C>T
n.773+671C>T
c.2226+671C>T (n.2226+671C>T)
n.421+671C>T
c.453C>T (p.Gly151=)
c.3576C>T (p.Gly1192=)
c.3552C>T (p.Gly1184=)
c.3522C>T (p.Gly1174=)
c.3504C>T (p.Gly1168=)
c.3450C>T (p.Gly1150=)
c.3369C>T (p.Gly1123=)
c.3312C>T (p.Gly1104=)
c.1398C>T (p.Gly466=)
c.576C>T (p.Gly192=)
n.3591C>T
c.3618C>T (p.Gly1206=)
c.3546C>T (p.Gly1182=)
c.3408C>T (p.Gly1136=)
c.1494C>T (p.Gly498=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111669G>CCA493049785PKD1c.3498C>G (p.Gly1166=)
n.310+671C>G
n.430+671C>G
n.448C>G
c.233+147C>G
n.790+671C>G
c.473-3311C>G
n.773+671C>G
c.2226+671C>G (n.2226+671C>G)
n.421+671C>G
c.453C>G (p.Gly151=)
c.3576C>G (p.Gly1192=)
c.3552C>G (p.Gly1184=)
c.3522C>G (p.Gly1174=)
c.3504C>G (p.Gly1168=)
c.3450C>G (p.Gly1150=)
c.3369C>G (p.Gly1123=)
c.3312C>G (p.Gly1104=)
c.1398C>G (p.Gly466=)
c.576C>G (p.Gly192=)
n.3591C>G
c.3618C>G (p.Gly1206=)
c.3546C>G (p.Gly1182=)
c.3408C>G (p.Gly1136=)
c.1494C>G (p.Gly498=)
16g.2111669G=CA2202047755PKD1c.3498C= (p.Gly1166=)
n.310+671C=
n.430+671C=
n.448C=
c.233+147C=
n.790+671C=
c.473-3311C=
n.773+671C=
c.2226+671C= (n.2226+671C=)
n.421+671C=
c.453C= (p.Gly151=)
c.3576C= (p.Gly1192=)
c.3552C= (p.Gly1184=)
c.3522C= (p.Gly1174=)
c.3504C= (p.Gly1168=)
c.3450C= (p.Gly1150=)
c.3369C= (p.Gly1123=)
c.3312C= (p.Gly1104=)
c.1398C= (p.Gly466=)
c.576C= (p.Gly192=)
n.3591C=
c.3618C= (p.Gly1206=)
c.3546C= (p.Gly1182=)
c.3408C= (p.Gly1136=)
c.1494C= (p.Gly498=)
16g.2111669G>TCA493049786PKD1c.3498C>A (p.Gly1166=)
n.310+671C>A
n.430+671C>A
n.448C>A
c.233+147C>A
n.790+671C>A
c.473-3311C>A
n.773+671C>A
c.2226+671C>A (n.2226+671C>A)
n.421+671C>A
c.453C>A (p.Gly151=)
c.3576C>A (p.Gly1192=)
c.3552C>A (p.Gly1184=)
c.3522C>A (p.Gly1174=)
c.3504C>A (p.Gly1168=)
c.3450C>A (p.Gly1150=)
c.3369C>A (p.Gly1123=)
c.3312C>A (p.Gly1104=)
c.1398C>A (p.Gly466=)
c.576C>A (p.Gly192=)
n.3591C>A
c.3618C>A (p.Gly1206=)
c.3546C>A (p.Gly1182=)
c.3408C>A (p.Gly1136=)
c.1494C>A (p.Gly498=)
 gnomAD v4
16g.2111670C>ACA394382978PKD1c.3497G>T (p.Gly1166Val)
n.310+670G>T
n.430+670G>T
n.447G>T
c.233+146G>T
n.790+670G>T
c.473-3312G>T
n.773+670G>T
c.2226+670G>T (n.2226+670G>T)
n.421+670G>T
c.452G>T (p.Gly151Val)
c.3575G>T (p.Gly1192Val)
c.3551G>T (p.Gly1184Val)
c.3521G>T (p.Gly1174Val)
c.3503G>T (p.Gly1168Val)
c.3449G>T (p.Gly1150Val)
c.3368G>T (p.Gly1123Val)
c.3311G>T (p.Gly1104Val)
c.1397G>T (p.Gly466Val)
c.575G>T (p.Gly192Val)
n.3590G>T
c.3617G>T (p.Gly1206Val)
c.3545G>T (p.Gly1182Val)
c.3407G>T (p.Gly1136Val)
c.1493G>T (p.Gly498Val)
 gnomAD v4
16g.2111670C>GCA394382979PKD1c.3497G>C (p.Gly1166Ala)
n.310+670G>C
n.430+670G>C
n.447G>C
c.233+146G>C
n.790+670G>C
c.473-3312G>C
n.773+670G>C
c.2226+670G>C (n.2226+670G>C)
n.421+670G>C
c.452G>C (p.Gly151Ala)
c.3575G>C (p.Gly1192Ala)
c.3551G>C (p.Gly1184Ala)
c.3521G>C (p.Gly1174Ala)
c.3503G>C (p.Gly1168Ala)
c.3449G>C (p.Gly1150Ala)
c.3368G>C (p.Gly1123Ala)
c.3311G>C (p.Gly1104Ala)
c.1397G>C (p.Gly466Ala)
c.575G>C (p.Gly192Ala)
n.3590G>C
c.3617G>C (p.Gly1206Ala)
c.3545G>C (p.Gly1182Ala)
c.3407G>C (p.Gly1136Ala)
c.1493G>C (p.Gly498Ala)
16g.2111670C>TCA394382980PKD1c.3497G>A (p.Gly1166Asp)
n.310+670G>A
n.430+670G>A
n.447G>A
c.233+146G>A
n.790+670G>A
c.473-3312G>A
n.773+670G>A
c.2226+670G>A (n.2226+670G>A)
n.421+670G>A
c.452G>A (p.Gly151Asp)
c.3575G>A (p.Gly1192Asp)
c.3551G>A (p.Gly1184Asp)
c.3521G>A (p.Gly1174Asp)
c.3503G>A (p.Gly1168Asp)
c.3449G>A (p.Gly1150Asp)
c.3368G>A (p.Gly1123Asp)
c.3311G>A (p.Gly1104Asp)
c.1397G>A (p.Gly466Asp)
c.575G>A (p.Gly192Asp)
n.3590G>A
c.3617G>A (p.Gly1206Asp)
c.3545G>A (p.Gly1182Asp)
c.3407G>A (p.Gly1136Asp)
c.1493G>A (p.Gly498Asp)
 gnomAD v4
16g.2111671C>ACA394382981PKD1c.3496G>T (p.Gly1166Cys)
n.310+669G>T
n.430+669G>T
n.446G>T
c.233+145G>T
n.790+669G>T
c.473-3313G>T
n.773+669G>T
c.2226+669G>T (n.2226+669G>T)
n.421+669G>T
c.451G>T (p.Gly151Cys)
c.3574G>T (p.Gly1192Cys)
c.3550G>T (p.Gly1184Cys)
c.3520G>T (p.Gly1174Cys)
c.3502G>T (p.Gly1168Cys)
c.3448G>T (p.Gly1150Cys)
c.3367G>T (p.Gly1123Cys)
c.3310G>T (p.Gly1104Cys)
c.1396G>T (p.Gly466Cys)
c.574G>T (p.Gly192Cys)
n.3589G>T
c.3616G>T (p.Gly1206Cys)
c.3544G>T (p.Gly1182Cys)
c.3406G>T (p.Gly1136Cys)
c.1492G>T (p.Gly498Cys)
 gnomAD v4
16g.2111671C=CA2202047756PKD1c.3496G= (p.Gly1166=)
n.310+669G=
n.430+669G=
n.446G=
c.233+145G=
n.790+669G=
c.473-3313G=
n.773+669G=
c.2226+669G= (n.2226+669G=)
n.421+669G=
c.451G= (p.Gly151=)
c.3574G= (p.Gly1192=)
c.3550G= (p.Gly1184=)
c.3520G= (p.Gly1174=)
c.3502G= (p.Gly1168=)
c.3448G= (p.Gly1150=)
c.3367G= (p.Gly1123=)
c.3310G= (p.Gly1104=)
c.1396G= (p.Gly466=)
c.574G= (p.Gly192=)
n.3589G=
c.3616G= (p.Gly1206=)
c.3544G= (p.Gly1182=)
c.3406G= (p.Gly1136=)
c.1492G= (p.Gly498=)
16g.2111671C>GCA394382982PKD1c.3496G>C (p.Gly1166Arg)
n.310+669G>C
n.430+669G>C
n.446G>C
c.233+145G>C
n.790+669G>C
c.473-3313G>C
n.773+669G>C
c.2226+669G>C (n.2226+669G>C)
n.421+669G>C
c.451G>C (p.Gly151Arg)
c.3574G>C (p.Gly1192Arg)
c.3550G>C (p.Gly1184Arg)
c.3520G>C (p.Gly1174Arg)
c.3502G>C (p.Gly1168Arg)
c.3448G>C (p.Gly1150Arg)
c.3367G>C (p.Gly1123Arg)
c.3310G>C (p.Gly1104Arg)
c.1396G>C (p.Gly466Arg)
c.574G>C (p.Gly192Arg)
n.3589G>C
c.3616G>C (p.Gly1206Arg)
c.3544G>C (p.Gly1182Arg)
c.3406G>C (p.Gly1136Arg)
c.1492G>C (p.Gly498Arg)
16g.2111671C>TCA7832751PKD1c.3496G>A (p.Gly1166Ser)
n.310+669G>A
n.430+669G>A
n.446G>A
c.233+145G>A
n.790+669G>A
c.473-3313G>A
n.773+669G>A
c.2226+669G>A (n.2226+669G>A)
n.421+669G>A
c.451G>A (p.Gly151Ser)
c.3574G>A (p.Gly1192Ser)
c.3550G>A (p.Gly1184Ser)
c.3520G>A (p.Gly1174Ser)
c.3502G>A (p.Gly1168Ser)
c.3448G>A (p.Gly1150Ser)
c.3367G>A (p.Gly1123Ser)
c.3310G>A (p.Gly1104Ser)
c.1396G>A (p.Gly466Ser)
c.574G>A (p.Gly192Ser)
n.3589G>A
c.3616G>A (p.Gly1206Ser)
c.3544G>A (p.Gly1182Ser)
c.3406G>A (p.Gly1136Ser)
c.1492G>A (p.Gly498Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111672G>ACA7832752PKD1c.3495C>T (p.Asp1165=)
n.310+668C>T
n.430+668C>T
n.445C>T
c.233+144C>T
n.790+668C>T
c.473-3314C>T
n.773+668C>T
c.2226+668C>T (n.2226+668C>T)
n.421+668C>T
c.450C>T (p.Asp150=)
c.3573C>T (p.Asp1191=)
c.3549C>T (p.Asp1183=)
c.3519C>T (p.Asp1173=)
c.3501C>T (p.Asp1167=)
c.3447C>T (p.Asp1149=)
c.3366C>T (p.Asp1122=)
c.3309C>T (p.Asp1103=)
c.1395C>T (p.Asp465=)
c.573C>T (p.Asp191=)
n.3588C>T
c.3615C>T (p.Asp1205=)
c.3543C>T (p.Asp1181=)
c.3405C>T (p.Asp1135=)
c.1491C>T (p.Asp497=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111672G>CCA394382983PKD1c.3495C>G (p.Asp1165Glu)
n.310+668C>G
n.430+668C>G
n.445C>G
c.233+144C>G
n.790+668C>G
c.473-3314C>G
n.773+668C>G
c.2226+668C>G (n.2226+668C>G)
n.421+668C>G
c.450C>G (p.Asp150Glu)
c.3573C>G (p.Asp1191Glu)
c.3549C>G (p.Asp1183Glu)
c.3519C>G (p.Asp1173Glu)
c.3501C>G (p.Asp1167Glu)
c.3447C>G (p.Asp1149Glu)
c.3366C>G (p.Asp1122Glu)
c.3309C>G (p.Asp1103Glu)
c.1395C>G (p.Asp465Glu)
c.573C>G (p.Asp191Glu)
n.3588C>G
c.3615C>G (p.Asp1205Glu)
c.3543C>G (p.Asp1181Glu)
c.3405C>G (p.Asp1135Glu)
c.1491C>G (p.Asp497Glu)
16g.2111672G=CA2202047757PKD1c.3495C= (p.Asp1165=)
n.310+668C=
n.430+668C=
n.445C=
c.233+144C=
n.790+668C=
c.473-3314C=
n.773+668C=
c.2226+668C= (n.2226+668C=)
n.421+668C=
c.450C= (p.Asp150=)
c.3573C= (p.Asp1191=)
c.3549C= (p.Asp1183=)
c.3519C= (p.Asp1173=)
c.3501C= (p.Asp1167=)
c.3447C= (p.Asp1149=)
c.3366C= (p.Asp1122=)
c.3309C= (p.Asp1103=)
c.1395C= (p.Asp465=)
c.573C= (p.Asp191=)
n.3588C=
c.3615C= (p.Asp1205=)
c.3543C= (p.Asp1181=)
c.3405C= (p.Asp1135=)
c.1491C= (p.Asp497=)
16g.2111672G>TCA394382984PKD1c.3495C>A (p.Asp1165Glu)
n.310+668C>A
n.430+668C>A
n.445C>A
c.233+144C>A
n.790+668C>A
c.473-3314C>A
n.773+668C>A
c.2226+668C>A (n.2226+668C>A)
n.421+668C>A
c.450C>A (p.Asp150Glu)
c.3573C>A (p.Asp1191Glu)
c.3549C>A (p.Asp1183Glu)
c.3519C>A (p.Asp1173Glu)
c.3501C>A (p.Asp1167Glu)
c.3447C>A (p.Asp1149Glu)
c.3366C>A (p.Asp1122Glu)
c.3309C>A (p.Asp1103Glu)
c.1395C>A (p.Asp465Glu)
c.573C>A (p.Asp191Glu)
n.3588C>A
c.3615C>A (p.Asp1205Glu)
c.3543C>A (p.Asp1181Glu)
c.3405C>A (p.Asp1135Glu)
c.1491C>A (p.Asp497Glu)
 gnomAD v4
16g.2111673T>ACA394382986PKD1c.3494A>T (p.Asp1165Val)
n.310+667A>T
n.430+667A>T
n.444A>T
c.233+143A>T
n.790+667A>T
c.473-3315A>T
n.773+667A>T
c.2226+667A>T (n.2226+667A>T)
n.421+667A>T
c.449A>T (p.Asp150Val)
c.3572A>T (p.Asp1191Val)
c.3548A>T (p.Asp1183Val)
c.3518A>T (p.Asp1173Val)
c.3500A>T (p.Asp1167Val)
c.3446A>T (p.Asp1149Val)
c.3365A>T (p.Asp1122Val)
c.3308A>T (p.Asp1103Val)
c.1394A>T (p.Asp465Val)
c.572A>T (p.Asp191Val)
n.3587A>T
c.3614A>T (p.Asp1205Val)
c.3542A>T (p.Asp1181Val)
c.3404A>T (p.Asp1135Val)
c.1490A>T (p.Asp497Val)
16g.2111673T>CCA7832753PKD1c.3494A>G (p.Asp1165Gly)
n.310+667A>G
n.430+667A>G
n.444A>G
c.233+143A>G
n.790+667A>G
c.473-3315A>G
n.773+667A>G
c.2226+667A>G (n.2226+667A>G)
n.421+667A>G
c.449A>G (p.Asp150Gly)
c.3572A>G (p.Asp1191Gly)
c.3548A>G (p.Asp1183Gly)
c.3518A>G (p.Asp1173Gly)
c.3500A>G (p.Asp1167Gly)
c.3446A>G (p.Asp1149Gly)
c.3365A>G (p.Asp1122Gly)
c.3308A>G (p.Asp1103Gly)
c.1394A>G (p.Asp465Gly)
c.572A>G (p.Asp191Gly)
n.3587A>G
c.3614A>G (p.Asp1205Gly)
c.3542A>G (p.Asp1181Gly)
c.3404A>G (p.Asp1135Gly)
c.1490A>G (p.Asp497Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111673T>GCA394382985PKD1c.3494A>C (p.Asp1165Ala)
n.310+667A>C
n.430+667A>C
n.444A>C
c.233+143A>C
n.790+667A>C
c.473-3315A>C
n.773+667A>C
c.2226+667A>C (n.2226+667A>C)
n.421+667A>C
c.449A>C (p.Asp150Ala)
c.3572A>C (p.Asp1191Ala)
c.3548A>C (p.Asp1183Ala)
c.3518A>C (p.Asp1173Ala)
c.3500A>C (p.Asp1167Ala)
c.3446A>C (p.Asp1149Ala)
c.3365A>C (p.Asp1122Ala)
c.3308A>C (p.Asp1103Ala)
c.1394A>C (p.Asp465Ala)
c.572A>C (p.Asp191Ala)
n.3587A>C
c.3614A>C (p.Asp1205Ala)
c.3542A>C (p.Asp1181Ala)
c.3404A>C (p.Asp1135Ala)
c.1490A>C (p.Asp497Ala)
16g.2111673T=CA2202047758PKD1c.3494A= (p.Asp1165=)
n.310+667A=
n.430+667A=
n.444A=
c.233+143A=
n.790+667A=
c.473-3315A=
n.773+667A=
c.2226+667A= (n.2226+667A=)
n.421+667A=
c.449A= (p.Asp150=)
c.3572A= (p.Asp1191=)
c.3548A= (p.Asp1183=)
c.3518A= (p.Asp1173=)
c.3500A= (p.Asp1167=)
c.3446A= (p.Asp1149=)
c.3365A= (p.Asp1122=)
c.3308A= (p.Asp1103=)
c.1394A= (p.Asp465=)
c.572A= (p.Asp191=)
n.3587A=
c.3614A= (p.Asp1205=)
c.3542A= (p.Asp1181=)
c.3404A= (p.Asp1135=)
c.1490A= (p.Asp497=)
16g.2111674C>ACA394382987PKD1c.3493G>T (p.Asp1165Tyr)
n.310+666G>T
n.430+666G>T
n.443G>T
c.233+142G>T
n.790+666G>T
c.473-3316G>T
n.773+666G>T
c.2226+666G>T (n.2226+666G>T)
n.421+666G>T
c.448G>T (p.Asp150Tyr)
c.3571G>T (p.Asp1191Tyr)
c.3547G>T (p.Asp1183Tyr)
c.3517G>T (p.Asp1173Tyr)
c.3499G>T (p.Asp1167Tyr)
c.3445G>T (p.Asp1149Tyr)
c.3364G>T (p.Asp1122Tyr)
c.3307G>T (p.Asp1103Tyr)
c.1393G>T (p.Asp465Tyr)
c.571G>T (p.Asp191Tyr)
n.3586G>T
c.3613G>T (p.Asp1205Tyr)
c.3541G>T (p.Asp1181Tyr)
c.3403G>T (p.Asp1135Tyr)
c.1489G>T (p.Asp497Tyr)
 gnomAD v4
16g.2111674C>GCA394382988PKD1c.3493G>C (p.Asp1165His)
n.310+666G>C
n.430+666G>C
n.443G>C
c.233+142G>C
n.790+666G>C
c.473-3316G>C
n.773+666G>C
c.2226+666G>C (n.2226+666G>C)
n.421+666G>C
c.448G>C (p.Asp150His)
c.3571G>C (p.Asp1191His)
c.3547G>C (p.Asp1183His)
c.3517G>C (p.Asp1173His)
c.3499G>C (p.Asp1167His)
c.3445G>C (p.Asp1149His)
c.3364G>C (p.Asp1122His)
c.3307G>C (p.Asp1103His)
c.1393G>C (p.Asp465His)
c.571G>C (p.Asp191His)
n.3586G>C
c.3613G>C (p.Asp1205His)
c.3541G>C (p.Asp1181His)
c.3403G>C (p.Asp1135His)
c.1489G>C (p.Asp497His)
16g.2111674C>TCA394382989PKD1c.3493G>A (p.Asp1165Asn)
n.310+666G>A
n.430+666G>A
n.443G>A
c.233+142G>A
n.790+666G>A
c.473-3316G>A
n.773+666G>A
c.2226+666G>A (n.2226+666G>A)
n.421+666G>A
c.448G>A (p.Asp150Asn)
c.3571G>A (p.Asp1191Asn)
c.3547G>A (p.Asp1183Asn)
c.3517G>A (p.Asp1173Asn)
c.3499G>A (p.Asp1167Asn)
c.3445G>A (p.Asp1149Asn)
c.3364G>A (p.Asp1122Asn)
c.3307G>A (p.Asp1103Asn)
c.1393G>A (p.Asp465Asn)
c.571G>A (p.Asp191Asn)
n.3586G>A
c.3613G>A (p.Asp1205Asn)
c.3541G>A (p.Asp1181Asn)
c.3403G>A (p.Asp1135Asn)
c.1489G>A (p.Asp497Asn)
 gnomAD v4
16g.2111677delCA2631131938PKD1c.3493del (p.Asp1165ThrfsTer6)
n.310+666del
n.430+666del
n.443del
c.233+142del
n.790+666del
c.473-3316del
n.773+666del
c.2226+666del (n.2226+666del)
n.421+666del
c.448del (p.Asp150ThrfsTer6)
c.3571del (p.Asp1191ThrfsTer6)
c.3547del (p.Asp1183ThrfsTer6)
c.3517del (p.Asp1173ThrfsTer6)
c.3499del (p.Asp1167ThrfsTer6)
c.3445del (p.Asp1149ThrfsTer6)
c.3364del (p.Asp1122ThrfsTer6)
c.3307del (p.Asp1103ThrfsTer6)
c.1393del (p.Asp465ThrfsTer6)
c.571del (p.Asp191ThrfsTer6)
n.3586del
c.3613del (p.Asp1205ThrfsTer6)
c.3541del (p.Asp1181ThrfsTer6)
c.3403del (p.Asp1135ThrfsTer6)
c.1489del (p.Asp497ThrfsTer6)
 gnomAD v4
16g.2111675C>ACA493049808PKD1c.3492G>T (p.Gly1164=)
n.310+665G>T
n.430+665G>T
n.442G>T
c.233+141G>T
n.790+665G>T
c.473-3317G>T
n.773+665G>T
c.2226+665G>T (n.2226+665G>T)
n.421+665G>T
c.447G>T (p.Gly149=)
c.3570G>T (p.Gly1190=)
c.3546G>T (p.Gly1182=)
c.3516G>T (p.Gly1172=)
c.3498G>T (p.Gly1166=)
c.3444G>T (p.Gly1148=)
c.3363G>T (p.Gly1121=)
c.3306G>T (p.Gly1102=)
c.1392G>T (p.Gly464=)
c.570G>T (p.Gly190=)
n.3585G>T
c.3612G>T (p.Gly1204=)
c.3540G>T (p.Gly1180=)
c.3402G>T (p.Gly1134=)
c.1488G>T (p.Gly496=)
 gnomAD v4
16g.2111675C=CA2202047759PKD1c.3492G= (p.Gly1164=)
n.310+665G=
n.430+665G=
n.442G=
c.233+141G=
n.790+665G=
c.473-3317G=
n.773+665G=
c.2226+665G= (n.2226+665G=)
n.421+665G=
c.447G= (p.Gly149=)
c.3570G= (p.Gly1190=)
c.3546G= (p.Gly1182=)
c.3516G= (p.Gly1172=)
c.3498G= (p.Gly1166=)
c.3444G= (p.Gly1148=)
c.3363G= (p.Gly1121=)
c.3306G= (p.Gly1102=)
c.1392G= (p.Gly464=)
c.570G= (p.Gly190=)
n.3585G=
c.3612G= (p.Gly1204=)
c.3540G= (p.Gly1180=)
c.3402G= (p.Gly1134=)
c.1488G= (p.Gly496=)
16g.2111675C>GCA493049810PKD1c.3492G>C (p.Gly1164=)
n.310+665G>C
n.430+665G>C
n.442G>C
c.233+141G>C
n.790+665G>C
c.473-3317G>C
n.773+665G>C
c.2226+665G>C (n.2226+665G>C)
n.421+665G>C
c.447G>C (p.Gly149=)
c.3570G>C (p.Gly1190=)
c.3546G>C (p.Gly1182=)
c.3516G>C (p.Gly1172=)
c.3498G>C (p.Gly1166=)
c.3444G>C (p.Gly1148=)
c.3363G>C (p.Gly1121=)
c.3306G>C (p.Gly1102=)
c.1392G>C (p.Gly464=)
c.570G>C (p.Gly190=)
n.3585G>C
c.3612G>C (p.Gly1204=)
c.3540G>C (p.Gly1180=)
c.3402G>C (p.Gly1134=)
c.1488G>C (p.Gly496=)
16g.2111675C>TCA276781907PKD1c.3492G>A (p.Gly1164=)
n.310+665G>A
n.430+665G>A
n.442G>A
c.233+141G>A
n.790+665G>A
c.473-3317G>A
n.773+665G>A
c.2226+665G>A (n.2226+665G>A)
n.421+665G>A
c.447G>A (p.Gly149=)
c.3570G>A (p.Gly1190=)
c.3546G>A (p.Gly1182=)
c.3516G>A (p.Gly1172=)
c.3498G>A (p.Gly1166=)
c.3444G>A (p.Gly1148=)
c.3363G>A (p.Gly1121=)
c.3306G>A (p.Gly1102=)
c.1392G>A (p.Gly464=)
c.570G>A (p.Gly190=)
n.3585G>A
c.3612G>A (p.Gly1204=)
c.3540G>A (p.Gly1180=)
c.3402G>A (p.Gly1134=)
c.1488G>A (p.Gly496=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111676C>ACA394382990PKD1c.3491G>T (p.Gly1164Val)
n.310+664G>T
n.430+664G>T
n.441G>T
c.233+140G>T
n.790+664G>T
c.473-3318G>T
n.773+664G>T
c.2226+664G>T (n.2226+664G>T)
n.421+664G>T
c.446G>T (p.Gly149Val)
c.3569G>T (p.Gly1190Val)
c.3545G>T (p.Gly1182Val)
c.3515G>T (p.Gly1172Val)
c.3497G>T (p.Gly1166Val)
c.3443G>T (p.Gly1148Val)
c.3362G>T (p.Gly1121Val)
c.3305G>T (p.Gly1102Val)
c.1391G>T (p.Gly464Val)
c.569G>T (p.Gly190Val)
n.3584G>T
c.3611G>T (p.Gly1204Val)
c.3539G>T (p.Gly1180Val)
c.3401G>T (p.Gly1134Val)
c.1487G>T (p.Gly496Val)
 gnomAD v4
16g.2111676C>GCA394382991PKD1c.3491G>C (p.Gly1164Ala)
n.310+664G>C
n.430+664G>C
n.441G>C
c.233+140G>C
n.790+664G>C
c.473-3318G>C
n.773+664G>C
c.2226+664G>C (n.2226+664G>C)
n.421+664G>C
c.446G>C (p.Gly149Ala)
c.3569G>C (p.Gly1190Ala)
c.3545G>C (p.Gly1182Ala)
c.3515G>C (p.Gly1172Ala)
c.3497G>C (p.Gly1166Ala)
c.3443G>C (p.Gly1148Ala)
c.3362G>C (p.Gly1121Ala)
c.3305G>C (p.Gly1102Ala)
c.1391G>C (p.Gly464Ala)
c.569G>C (p.Gly190Ala)
n.3584G>C
c.3611G>C (p.Gly1204Ala)
c.3539G>C (p.Gly1180Ala)
c.3401G>C (p.Gly1134Ala)
c.1487G>C (p.Gly496Ala)
16g.2111676C>TCA394382992PKD1c.3491G>A (p.Gly1164Glu)
n.310+664G>A
n.430+664G>A
n.441G>A
c.233+140G>A
n.790+664G>A
c.473-3318G>A
n.773+664G>A
c.2226+664G>A (n.2226+664G>A)
n.421+664G>A
c.446G>A (p.Gly149Glu)
c.3569G>A (p.Gly1190Glu)
c.3545G>A (p.Gly1182Glu)
c.3515G>A (p.Gly1172Glu)
c.3497G>A (p.Gly1166Glu)
c.3443G>A (p.Gly1148Glu)
c.3362G>A (p.Gly1121Glu)
c.3305G>A (p.Gly1102Glu)
c.1391G>A (p.Gly464Glu)
c.569G>A (p.Gly190Glu)
n.3584G>A
c.3611G>A (p.Gly1204Glu)
c.3539G>A (p.Gly1180Glu)
c.3401G>A (p.Gly1134Glu)
c.1487G>A (p.Gly496Glu)
 gnomAD v4
16g.2111677C>ACA394382993PKD1c.3490G>T (p.Gly1164Trp)
n.310+663G>T
n.430+663G>T
n.440G>T
c.233+139G>T
n.790+663G>T
c.473-3319G>T
n.773+663G>T
c.2226+663G>T (n.2226+663G>T)
n.421+663G>T
c.445G>T (p.Gly149Trp)
c.3568G>T (p.Gly1190Trp)
c.3544G>T (p.Gly1182Trp)
c.3514G>T (p.Gly1172Trp)
c.3496G>T (p.Gly1166Trp)
c.3442G>T (p.Gly1148Trp)
c.3361G>T (p.Gly1121Trp)
c.3304G>T (p.Gly1102Trp)
c.1390G>T (p.Gly464Trp)
c.568G>T (p.Gly190Trp)
n.3583G>T
c.3610G>T (p.Gly1204Trp)
c.3538G>T (p.Gly1180Trp)
c.3400G>T (p.Gly1134Trp)
c.1486G>T (p.Gly496Trp)
 gnomAD v4
16g.2111677C>GCA394382994PKD1c.3490G>C (p.Gly1164Arg)
n.310+663G>C
n.430+663G>C
n.440G>C
c.233+139G>C
n.790+663G>C
c.473-3319G>C
n.773+663G>C
c.2226+663G>C (n.2226+663G>C)
n.421+663G>C
c.445G>C (p.Gly149Arg)
c.3568G>C (p.Gly1190Arg)
c.3544G>C (p.Gly1182Arg)
c.3514G>C (p.Gly1172Arg)
c.3496G>C (p.Gly1166Arg)
c.3442G>C (p.Gly1148Arg)
c.3361G>C (p.Gly1121Arg)
c.3304G>C (p.Gly1102Arg)
c.1390G>C (p.Gly464Arg)
c.568G>C (p.Gly190Arg)
n.3583G>C
c.3610G>C (p.Gly1204Arg)
c.3538G>C (p.Gly1180Arg)
c.3400G>C (p.Gly1134Arg)
c.1486G>C (p.Gly496Arg)
16g.2111677C>TCA394382995PKD1c.3490G>A (p.Gly1164Arg)
n.310+663G>A
n.430+663G>A
n.440G>A
c.233+139G>A
n.790+663G>A
c.473-3319G>A
n.773+663G>A
c.2226+663G>A (n.2226+663G>A)
n.421+663G>A
c.445G>A (p.Gly149Arg)
c.3568G>A (p.Gly1190Arg)
c.3544G>A (p.Gly1182Arg)
c.3514G>A (p.Gly1172Arg)
c.3496G>A (p.Gly1166Arg)
c.3442G>A (p.Gly1148Arg)
c.3361G>A (p.Gly1121Arg)
c.3304G>A (p.Gly1102Arg)
c.1390G>A (p.Gly464Arg)
c.568G>A (p.Gly190Arg)
n.3583G>A
c.3610G>A (p.Gly1204Arg)
c.3538G>A (p.Gly1180Arg)
c.3400G>A (p.Gly1134Arg)
c.1486G>A (p.Gly496Arg)
 ClinVar dbSNP gnomAD v4
16g.2111678G>ACA7832754PKD1c.3489C>T (p.Phe1163=)
n.310+662C>T
n.430+662C>T
n.439C>T
c.233+138C>T
n.790+662C>T
c.473-3320C>T
n.773+662C>T
c.2226+662C>T (n.2226+662C>T)
n.421+662C>T
c.444C>T (p.Phe148=)
c.3567C>T (p.Phe1189=)
c.3543C>T (p.Phe1181=)
c.3513C>T (p.Phe1171=)
c.3495C>T (p.Phe1165=)
c.3441C>T (p.Phe1147=)
c.3360C>T (p.Phe1120=)
c.3303C>T (p.Phe1101=)
c.1389C>T (p.Phe463=)
c.567C>T (p.Phe189=)
n.3582C>T
c.3609C>T (p.Phe1203=)
c.3537C>T (p.Phe1179=)
c.3399C>T (p.Phe1133=)
c.1485C>T (p.Phe495=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111678G>CCA394382996PKD1c.3489C>G (p.Phe1163Leu)
n.310+662C>G
n.430+662C>G
n.439C>G
c.233+138C>G
n.790+662C>G
c.473-3320C>G
n.773+662C>G
c.2226+662C>G (n.2226+662C>G)
n.421+662C>G
c.444C>G (p.Phe148Leu)
c.3567C>G (p.Phe1189Leu)
c.3543C>G (p.Phe1181Leu)
c.3513C>G (p.Phe1171Leu)
c.3495C>G (p.Phe1165Leu)
c.3441C>G (p.Phe1147Leu)
c.3360C>G (p.Phe1120Leu)
c.3303C>G (p.Phe1101Leu)
c.1389C>G (p.Phe463Leu)
c.567C>G (p.Phe189Leu)
n.3582C>G
c.3609C>G (p.Phe1203Leu)
c.3537C>G (p.Phe1179Leu)
c.3399C>G (p.Phe1133Leu)
c.1485C>G (p.Phe495Leu)
 gnomAD v4
16g.2111678G=CA2202047760PKD1c.3489C= (p.Phe1163=)
n.310+662C=
n.430+662C=
n.439C=
c.233+138C=
n.790+662C=
c.473-3320C=
n.773+662C=
c.2226+662C= (n.2226+662C=)
n.421+662C=
c.444C= (p.Phe148=)
c.3567C= (p.Phe1189=)
c.3543C= (p.Phe1181=)
c.3513C= (p.Phe1171=)
c.3495C= (p.Phe1165=)
c.3441C= (p.Phe1147=)
c.3360C= (p.Phe1120=)
c.3303C= (p.Phe1101=)
c.1389C= (p.Phe463=)
c.567C= (p.Phe189=)
n.3582C=
c.3609C= (p.Phe1203=)
c.3537C= (p.Phe1179=)
c.3399C= (p.Phe1133=)
c.1485C= (p.Phe495=)
16g.2111678G>TCA394382997PKD1c.3489C>A (p.Phe1163Leu)
n.310+662C>A
n.430+662C>A
n.439C>A
c.233+138C>A
n.790+662C>A
c.473-3320C>A
n.773+662C>A
c.2226+662C>A (n.2226+662C>A)
n.421+662C>A
c.444C>A (p.Phe148Leu)
c.3567C>A (p.Phe1189Leu)
c.3543C>A (p.Phe1181Leu)
c.3513C>A (p.Phe1171Leu)
c.3495C>A (p.Phe1165Leu)
c.3441C>A (p.Phe1147Leu)
c.3360C>A (p.Phe1120Leu)
c.3303C>A (p.Phe1101Leu)
c.1389C>A (p.Phe463Leu)
c.567C>A (p.Phe189Leu)
n.3582C>A
c.3609C>A (p.Phe1203Leu)
c.3537C>A (p.Phe1179Leu)
c.3399C>A (p.Phe1133Leu)
c.1485C>A (p.Phe495Leu)
 gnomAD v4
16g.2111678_2111681delinsAAACCA2202047762PKD1c.3486_3489delinsGTTT (p.Asp1162Glu)
n.310+659_310+662delinsGTTT
n.430+659_430+662delinsGTTT
n.436_439delinsGTTT
c.233+135_233+138delinsGTTT
n.790+659_790+662delinsGTTT
c.473-3323_473-3320delinsGTTT
n.773+659_773+662delinsGTTT
c.2226+659_2226+662delinsGTTT (n.2226+659_2226+662delinsGTTT)
n.421+659_421+662delinsGTTT
c.441_444delinsGTTT (p.Asp147Glu)
c.3564_3567delinsGTTT (p.Asp1188Glu)
c.3540_3543delinsGTTT (p.Asp1180Glu)
c.3510_3513delinsGTTT (p.Asp1170Glu)
c.3492_3495delinsGTTT (p.Asp1164Glu)
c.3438_3441delinsGTTT (p.Asp1146Glu)
c.3357_3360delinsGTTT (p.Asp1119Glu)
c.3300_3303delinsGTTT (p.Asp1100Glu)
c.1386_1389delinsGTTT (p.Asp462Glu)
c.564_567delinsGTTT (p.Asp188Glu)
n.3579_3582delinsGTTT
c.3606_3609delinsGTTT (p.Asp1202Glu)
c.3534_3537delinsGTTT (p.Asp1178Glu)
c.3396_3399delinsGTTT (p.Asp1132Glu)
c.1482_1485delinsGTTT (p.Asp494Glu)
 ClinVar dbSNP
16g.2111678_2111681delinsGAAGCA2202047761PKD1c.3486_3489delinsCTTC (p.Asp1162=)
n.310+659_310+662delinsCTTC
n.430+659_430+662delinsCTTC
n.436_439delinsCTTC
c.233+135_233+138delinsCTTC
n.790+659_790+662delinsCTTC
c.473-3323_473-3320delinsCTTC
n.773+659_773+662delinsCTTC
c.2226+659_2226+662delinsCTTC (n.2226+659_2226+662delinsCTTC)
n.421+659_421+662delinsCTTC
c.441_444delinsCTTC (p.Asp147=)
c.3564_3567delinsCTTC (p.Asp1188=)
c.3540_3543delinsCTTC (p.Asp1180=)
c.3510_3513delinsCTTC (p.Asp1170=)
c.3492_3495delinsCTTC (p.Asp1164=)
c.3438_3441delinsCTTC (p.Asp1146=)
c.3357_3360delinsCTTC (p.Asp1119=)
c.3300_3303delinsCTTC (p.Asp1100=)
c.1386_1389delinsCTTC (p.Asp462=)
c.564_567delinsCTTC (p.Asp188=)
n.3579_3582delinsCTTC
c.3606_3609delinsCTTC (p.Asp1202=)
c.3534_3537delinsCTTC (p.Asp1178=)
c.3396_3399delinsCTTC (p.Asp1132=)
c.1482_1485delinsCTTC (p.Asp494=)
16g.2111679A>CCA394382998PKD1c.3488T>G (p.Phe1163Cys)
n.310+661T>G
n.430+661T>G
n.438T>G
c.233+137T>G
n.790+661T>G
c.473-3321T>G
n.773+661T>G
c.2226+661T>G (n.2226+661T>G)
n.421+661T>G
c.443T>G (p.Phe148Cys)
c.3566T>G (p.Phe1189Cys)
c.3542T>G (p.Phe1181Cys)
c.3512T>G (p.Phe1171Cys)
c.3494T>G (p.Phe1165Cys)
c.3440T>G (p.Phe1147Cys)
c.3359T>G (p.Phe1120Cys)
c.3302T>G (p.Phe1101Cys)
c.1388T>G (p.Phe463Cys)
c.566T>G (p.Phe189Cys)
n.3581T>G
c.3608T>G (p.Phe1203Cys)
c.3536T>G (p.Phe1179Cys)
c.3398T>G (p.Phe1133Cys)
c.1484T>G (p.Phe495Cys)
16g.2111679A>GCA394383000PKD1c.3488T>C (p.Phe1163Ser)
n.310+661T>C
n.430+661T>C
n.438T>C
c.233+137T>C
n.790+661T>C
c.473-3321T>C
n.773+661T>C
c.2226+661T>C (n.2226+661T>C)
n.421+661T>C
c.443T>C (p.Phe148Ser)
c.3566T>C (p.Phe1189Ser)
c.3542T>C (p.Phe1181Ser)
c.3512T>C (p.Phe1171Ser)
c.3494T>C (p.Phe1165Ser)
c.3440T>C (p.Phe1147Ser)
c.3359T>C (p.Phe1120Ser)
c.3302T>C (p.Phe1101Ser)
c.1388T>C (p.Phe463Ser)
c.566T>C (p.Phe189Ser)
n.3581T>C
c.3608T>C (p.Phe1203Ser)
c.3536T>C (p.Phe1179Ser)
c.3398T>C (p.Phe1133Ser)
c.1484T>C (p.Phe495Ser)
16g.2111679A>TCA394382999PKD1c.3488T>A (p.Phe1163Tyr)
n.310+661T>A
n.430+661T>A
n.438T>A
c.233+137T>A
n.790+661T>A
c.473-3321T>A
n.773+661T>A
c.2226+661T>A (n.2226+661T>A)
n.421+661T>A
c.443T>A (p.Phe148Tyr)
c.3566T>A (p.Phe1189Tyr)
c.3542T>A (p.Phe1181Tyr)
c.3512T>A (p.Phe1171Tyr)
c.3494T>A (p.Phe1165Tyr)
c.3440T>A (p.Phe1147Tyr)
c.3359T>A (p.Phe1120Tyr)
c.3302T>A (p.Phe1101Tyr)
c.1388T>A (p.Phe463Tyr)
c.566T>A (p.Phe189Tyr)
n.3581T>A
c.3608T>A (p.Phe1203Tyr)
c.3536T>A (p.Phe1179Tyr)
c.3398T>A (p.Phe1133Tyr)
c.1484T>A (p.Phe495Tyr)
16g.2111680A=CA2202047763PKD1c.3487T= (p.Phe1163=)
n.310+660T=
n.430+660T=
n.437T=
c.233+136T=
n.790+660T=
c.473-3322T=
n.773+660T=
c.2226+660T= (n.2226+660T=)
n.421+660T=
c.442T= (p.Phe148=)
c.3565T= (p.Phe1189=)
c.3541T= (p.Phe1181=)
c.3511T= (p.Phe1171=)
c.3493T= (p.Phe1165=)
c.3439T= (p.Phe1147=)
c.3358T= (p.Phe1120=)
c.3301T= (p.Phe1101=)
c.1387T= (p.Phe463=)
c.565T= (p.Phe189=)
n.3580T=
c.3607T= (p.Phe1203=)
c.3535T= (p.Phe1179=)
c.3397T= (p.Phe1133=)
c.1483T= (p.Phe495=)
16g.2111680A>CCA394383001PKD1c.3487T>G (p.Phe1163Val)
n.310+660T>G
n.430+660T>G
n.437T>G
c.233+136T>G
n.790+660T>G
c.473-3322T>G
n.773+660T>G
c.2226+660T>G (n.2226+660T>G)
n.421+660T>G
c.442T>G (p.Phe148Val)
c.3565T>G (p.Phe1189Val)
c.3541T>G (p.Phe1181Val)
c.3511T>G (p.Phe1171Val)
c.3493T>G (p.Phe1165Val)
c.3439T>G (p.Phe1147Val)
c.3358T>G (p.Phe1120Val)
c.3301T>G (p.Phe1101Val)
c.1387T>G (p.Phe463Val)
c.565T>G (p.Phe189Val)
n.3580T>G
c.3607T>G (p.Phe1203Val)
c.3535T>G (p.Phe1179Val)
c.3397T>G (p.Phe1133Val)
c.1483T>G (p.Phe495Val)
 dbSNP
16g.2111680A>GCA394383003PKD1c.3487T>C (p.Phe1163Leu)
n.310+660T>C
n.430+660T>C
n.437T>C
c.233+136T>C
n.790+660T>C
c.473-3322T>C
n.773+660T>C
c.2226+660T>C (n.2226+660T>C)
n.421+660T>C
c.442T>C (p.Phe148Leu)
c.3565T>C (p.Phe1189Leu)
c.3541T>C (p.Phe1181Leu)
c.3511T>C (p.Phe1171Leu)
c.3493T>C (p.Phe1165Leu)
c.3439T>C (p.Phe1147Leu)
c.3358T>C (p.Phe1120Leu)
c.3301T>C (p.Phe1101Leu)
c.1387T>C (p.Phe463Leu)
c.565T>C (p.Phe189Leu)
n.3580T>C
c.3607T>C (p.Phe1203Leu)
c.3535T>C (p.Phe1179Leu)
c.3397T>C (p.Phe1133Leu)
c.1483T>C (p.Phe495Leu)
 gnomAD v4
16g.2111680A>TCA394383002PKD1c.3487T>A (p.Phe1163Ile)
n.310+660T>A
n.430+660T>A
n.437T>A
c.233+136T>A
n.790+660T>A
c.473-3322T>A
n.773+660T>A
c.2226+660T>A (n.2226+660T>A)
n.421+660T>A
c.442T>A (p.Phe148Ile)
c.3565T>A (p.Phe1189Ile)
c.3541T>A (p.Phe1181Ile)
c.3511T>A (p.Phe1171Ile)
c.3493T>A (p.Phe1165Ile)
c.3439T>A (p.Phe1147Ile)
c.3358T>A (p.Phe1120Ile)
c.3301T>A (p.Phe1101Ile)
c.1387T>A (p.Phe463Ile)
c.565T>A (p.Phe189Ile)
n.3580T>A
c.3607T>A (p.Phe1203Ile)
c.3535T>A (p.Phe1179Ile)
c.3397T>A (p.Phe1133Ile)
c.1483T>A (p.Phe495Ile)
16g.2111681G>ACA493049832PKD1c.3486C>T (p.Asp1162=)
n.310+659C>T
n.430+659C>T
n.436C>T
c.233+135C>T
n.790+659C>T
c.473-3323C>T
n.773+659C>T
c.2226+659C>T (n.2226+659C>T)
n.421+659C>T
c.441C>T (p.Asp147=)
c.3564C>T (p.Asp1188=)
c.3540C>T (p.Asp1180=)
c.3510C>T (p.Asp1170=)
c.3492C>T (p.Asp1164=)
c.3438C>T (p.Asp1146=)
c.3357C>T (p.Asp1119=)
c.3300C>T (p.Asp1100=)
c.1386C>T (p.Asp462=)
c.564C>T (p.Asp188=)
n.3579C>T
c.3606C>T (p.Asp1202=)
c.3534C>T (p.Asp1178=)
c.3396C>T (p.Asp1132=)
c.1482C>T (p.Asp494=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111681G>CCA7832755PKD1c.3486C>G (p.Asp1162Glu)
n.310+659C>G
n.430+659C>G
n.436C>G
c.233+135C>G
n.790+659C>G
c.473-3323C>G
n.773+659C>G
c.2226+659C>G (n.2226+659C>G)
n.421+659C>G
c.441C>G (p.Asp147Glu)
c.3564C>G (p.Asp1188Glu)
c.3540C>G (p.Asp1180Glu)
c.3510C>G (p.Asp1170Glu)
c.3492C>G (p.Asp1164Glu)
c.3438C>G (p.Asp1146Glu)
c.3357C>G (p.Asp1119Glu)
c.3300C>G (p.Asp1100Glu)
c.1386C>G (p.Asp462Glu)
c.564C>G (p.Asp188Glu)
n.3579C>G
c.3606C>G (p.Asp1202Glu)
c.3534C>G (p.Asp1178Glu)
c.3396C>G (p.Asp1132Glu)
c.1482C>G (p.Asp494Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111681G=CA2202047764PKD1c.3486C= (p.Asp1162=)
n.310+659C=
n.430+659C=
n.436C=
c.233+135C=
n.790+659C=
c.473-3323C=
n.773+659C=
c.2226+659C= (n.2226+659C=)
n.421+659C=
c.441C= (p.Asp147=)
c.3564C= (p.Asp1188=)
c.3540C= (p.Asp1180=)
c.3510C= (p.Asp1170=)
c.3492C= (p.Asp1164=)
c.3438C= (p.Asp1146=)
c.3357C= (p.Asp1119=)
c.3300C= (p.Asp1100=)
c.1386C= (p.Asp462=)
c.564C= (p.Asp188=)
n.3579C=
c.3606C= (p.Asp1202=)
c.3534C= (p.Asp1178=)
c.3396C= (p.Asp1132=)
c.1482C= (p.Asp494=)
16g.2111681G>TCA394383004PKD1c.3486C>A (p.Asp1162Glu)
n.310+659C>A
n.430+659C>A
n.436C>A
c.233+135C>A
n.790+659C>A
c.473-3323C>A
n.773+659C>A
c.2226+659C>A (n.2226+659C>A)
n.421+659C>A
c.441C>A (p.Asp147Glu)
c.3564C>A (p.Asp1188Glu)
c.3540C>A (p.Asp1180Glu)
c.3510C>A (p.Asp1170Glu)
c.3492C>A (p.Asp1164Glu)
c.3438C>A (p.Asp1146Glu)
c.3357C>A (p.Asp1119Glu)
c.3300C>A (p.Asp1100Glu)
c.1386C>A (p.Asp462Glu)
c.564C>A (p.Asp188Glu)
n.3579C>A
c.3606C>A (p.Asp1202Glu)
c.3534C>A (p.Asp1178Glu)
c.3396C>A (p.Asp1132Glu)
c.1482C>A (p.Asp494Glu)
16g.2111682T>ACA394383005PKD1c.3485A>T (p.Asp1162Val)
n.310+658A>T
n.430+658A>T
n.435A>T
c.233+134A>T
n.790+658A>T
c.473-3324A>T
n.773+658A>T
c.2226+658A>T (n.2226+658A>T)
n.421+658A>T
c.440A>T (p.Asp147Val)
c.3563A>T (p.Asp1188Val)
c.3539A>T (p.Asp1180Val)
c.3509A>T (p.Asp1170Val)
c.3491A>T (p.Asp1164Val)
c.3437A>T (p.Asp1146Val)
c.3356A>T (p.Asp1119Val)
c.3299A>T (p.Asp1100Val)
c.1385A>T (p.Asp462Val)
c.563A>T (p.Asp188Val)
n.3578A>T
c.3605A>T (p.Asp1202Val)
c.3533A>T (p.Asp1178Val)
c.3395A>T (p.Asp1132Val)
c.1481A>T (p.Asp494Val)
16g.2111682T>CCA394383007PKD1c.3485A>G (p.Asp1162Gly)
n.310+658A>G
n.430+658A>G
n.435A>G
c.233+134A>G
n.790+658A>G
c.473-3324A>G
n.773+658A>G
c.2226+658A>G (n.2226+658A>G)
n.421+658A>G
c.440A>G (p.Asp147Gly)
c.3563A>G (p.Asp1188Gly)
c.3539A>G (p.Asp1180Gly)
c.3509A>G (p.Asp1170Gly)
c.3491A>G (p.Asp1164Gly)
c.3437A>G (p.Asp1146Gly)
c.3356A>G (p.Asp1119Gly)
c.3299A>G (p.Asp1100Gly)
c.1385A>G (p.Asp462Gly)
c.563A>G (p.Asp188Gly)
n.3578A>G
c.3605A>G (p.Asp1202Gly)
c.3533A>G (p.Asp1178Gly)
c.3395A>G (p.Asp1132Gly)
c.1481A>G (p.Asp494Gly)
 dbSNP gnomAD v4
16g.2111682T>GCA394383006PKD1c.3485A>C (p.Asp1162Ala)
n.310+658A>C
n.430+658A>C
n.435A>C
c.233+134A>C
n.790+658A>C
c.473-3324A>C
n.773+658A>C
c.2226+658A>C (n.2226+658A>C)
n.421+658A>C
c.440A>C (p.Asp147Ala)
c.3563A>C (p.Asp1188Ala)
c.3539A>C (p.Asp1180Ala)
c.3509A>C (p.Asp1170Ala)
c.3491A>C (p.Asp1164Ala)
c.3437A>C (p.Asp1146Ala)
c.3356A>C (p.Asp1119Ala)
c.3299A>C (p.Asp1100Ala)
c.1385A>C (p.Asp462Ala)
c.563A>C (p.Asp188Ala)
n.3578A>C
c.3605A>C (p.Asp1202Ala)
c.3533A>C (p.Asp1178Ala)
c.3395A>C (p.Asp1132Ala)
c.1481A>C (p.Asp494Ala)
16g.2111682T=CA2202047765PKD1c.3485A= (p.Asp1162=)
n.310+658A=
n.430+658A=
n.435A=
c.233+134A=
n.790+658A=
c.473-3324A=
n.773+658A=
c.2226+658A= (n.2226+658A=)
n.421+658A=
c.440A= (p.Asp147=)
c.3563A= (p.Asp1188=)
c.3539A= (p.Asp1180=)
c.3509A= (p.Asp1170=)
c.3491A= (p.Asp1164=)
c.3437A= (p.Asp1146=)
c.3356A= (p.Asp1119=)
c.3299A= (p.Asp1100=)
c.1385A= (p.Asp462=)
c.563A= (p.Asp188=)
n.3578A=
c.3605A= (p.Asp1202=)
c.3533A= (p.Asp1178=)
c.3395A= (p.Asp1132=)
c.1481A= (p.Asp494=)
16g.2111683C>ACA394383008PKD1c.3484G>T (p.Asp1162Tyr)
n.310+657G>T
n.430+657G>T
n.434G>T
c.233+133G>T
n.790+657G>T
c.473-3325G>T
n.773+657G>T
c.2226+657G>T (n.2226+657G>T)
n.421+657G>T
c.439G>T (p.Asp147Tyr)
c.3562G>T (p.Asp1188Tyr)
c.3538G>T (p.Asp1180Tyr)
c.3508G>T (p.Asp1170Tyr)
c.3490G>T (p.Asp1164Tyr)
c.3436G>T (p.Asp1146Tyr)
c.3355G>T (p.Asp1119Tyr)
c.3298G>T (p.Asp1100Tyr)
c.1384G>T (p.Asp462Tyr)
c.562G>T (p.Asp188Tyr)
n.3577G>T
c.3604G>T (p.Asp1202Tyr)
c.3532G>T (p.Asp1178Tyr)
c.3394G>T (p.Asp1132Tyr)
c.1480G>T (p.Asp494Tyr)
 gnomAD v4
16g.2111683C=CA2202047766PKD1c.3484G= (p.Asp1162=)
n.310+657G=
n.430+657G=
n.434G=
c.233+133G=
n.790+657G=
c.473-3325G=
n.773+657G=
c.2226+657G= (n.2226+657G=)
n.421+657G=
c.439G= (p.Asp147=)
c.3562G= (p.Asp1188=)
c.3538G= (p.Asp1180=)
c.3508G= (p.Asp1170=)
c.3490G= (p.Asp1164=)
c.3436G= (p.Asp1146=)
c.3355G= (p.Asp1119=)
c.3298G= (p.Asp1100=)
c.1384G= (p.Asp462=)
c.562G= (p.Asp188=)
n.3577G=
c.3604G= (p.Asp1202=)
c.3532G= (p.Asp1178=)
c.3394G= (p.Asp1132=)
c.1480G= (p.Asp494=)
16g.2111683C>GCA394383009PKD1c.3484G>C (p.Asp1162His)
n.310+657G>C
n.430+657G>C
n.434G>C
c.233+133G>C
n.790+657G>C
c.473-3325G>C
n.773+657G>C
c.2226+657G>C (n.2226+657G>C)
n.421+657G>C
c.439G>C (p.Asp147His)
c.3562G>C (p.Asp1188His)
c.3538G>C (p.Asp1180His)
c.3508G>C (p.Asp1170His)
c.3490G>C (p.Asp1164His)
c.3436G>C (p.Asp1146His)
c.3355G>C (p.Asp1119His)
c.3298G>C (p.Asp1100His)
c.1384G>C (p.Asp462His)
c.562G>C (p.Asp188His)
n.3577G>C
c.3604G>C (p.Asp1202His)
c.3532G>C (p.Asp1178His)
c.3394G>C (p.Asp1132His)
c.1480G>C (p.Asp494His)
 gnomAD v4
16g.2111683C>TCA276781908PKD1c.3484G>A (p.Asp1162Asn)
n.310+657G>A
n.430+657G>A
n.434G>A
c.233+133G>A
n.790+657G>A
c.473-3325G>A
n.773+657G>A
c.2226+657G>A (n.2226+657G>A)
n.421+657G>A
c.439G>A (p.Asp147Asn)
c.3562G>A (p.Asp1188Asn)
c.3538G>A (p.Asp1180Asn)
c.3508G>A (p.Asp1170Asn)
c.3490G>A (p.Asp1164Asn)
c.3436G>A (p.Asp1146Asn)
c.3355G>A (p.Asp1119Asn)
c.3298G>A (p.Asp1100Asn)
c.1384G>A (p.Asp462Asn)
c.562G>A (p.Asp188Asn)
n.3577G>A
c.3604G>A (p.Asp1202Asn)
c.3532G>A (p.Asp1178Asn)
c.3394G>A (p.Asp1132Asn)
c.1480G>A (p.Asp494Asn)
 dbSNP gnomAD v2 gnomAD v4
16g.2111684C>ACA394383010PKD1c.3483G>T (p.Trp1161Cys)
n.310+656G>T
n.430+656G>T
n.433G>T
c.233+132G>T
n.790+656G>T
c.473-3326G>T
n.773+656G>T
c.2226+656G>T (n.2226+656G>T)
n.421+656G>T
c.438G>T (p.Trp146Cys)
c.3561G>T (p.Trp1187Cys)
c.3537G>T (p.Trp1179Cys)
c.3507G>T (p.Trp1169Cys)
c.3489G>T (p.Trp1163Cys)
c.3435G>T (p.Trp1145Cys)
c.3354G>T (p.Trp1118Cys)
c.3297G>T (p.Trp1099Cys)
c.1383G>T (p.Trp461Cys)
c.561G>T (p.Trp187Cys)
n.3576G>T
c.3603G>T (p.Trp1201Cys)
c.3531G>T (p.Trp1177Cys)
c.3393G>T (p.Trp1131Cys)
c.1479G>T (p.Trp493Cys)
 ClinVar dbSNP gnomAD v4
16g.2111684C=CA2202047767PKD1c.3483G= (p.Trp1161=)
n.310+656G=
n.430+656G=
n.433G=
c.233+132G=
n.790+656G=
c.473-3326G=
n.773+656G=
c.2226+656G= (n.2226+656G=)
n.421+656G=
c.438G= (p.Trp146=)
c.3561G= (p.Trp1187=)
c.3537G= (p.Trp1179=)
c.3507G= (p.Trp1169=)
c.3489G= (p.Trp1163=)
c.3435G= (p.Trp1145=)
c.3354G= (p.Trp1118=)
c.3297G= (p.Trp1099=)
c.1383G= (p.Trp461=)
c.561G= (p.Trp187=)
n.3576G=
c.3603G= (p.Trp1201=)
c.3531G= (p.Trp1177=)
c.3393G= (p.Trp1131=)
c.1479G= (p.Trp493=)
16g.2111684C>GCA394383012PKD1c.3483G>C (p.Trp1161Cys)
n.310+656G>C
n.430+656G>C
n.433G>C
c.233+132G>C
n.790+656G>C
c.473-3326G>C
n.773+656G>C
c.2226+656G>C (n.2226+656G>C)
n.421+656G>C
c.438G>C (p.Trp146Cys)
c.3561G>C (p.Trp1187Cys)
c.3537G>C (p.Trp1179Cys)
c.3507G>C (p.Trp1169Cys)
c.3489G>C (p.Trp1163Cys)
c.3435G>C (p.Trp1145Cys)
c.3354G>C (p.Trp1118Cys)
c.3297G>C (p.Trp1099Cys)
c.1383G>C (p.Trp461Cys)
c.561G>C (p.Trp187Cys)
n.3576G>C
c.3603G>C (p.Trp1201Cys)
c.3531G>C (p.Trp1177Cys)
c.3393G>C (p.Trp1131Cys)
c.1479G>C (p.Trp493Cys)
16g.2111684C>TCA394383011PKD1c.3483G>A (p.Trp1161Ter)
n.310+656G>A
n.430+656G>A
n.433G>A
c.233+132G>A
n.790+656G>A
c.473-3326G>A
n.773+656G>A
c.2226+656G>A (n.2226+656G>A)
n.421+656G>A
c.438G>A (p.Trp146Ter)
c.3561G>A (p.Trp1187Ter)
c.3537G>A (p.Trp1179Ter)
c.3507G>A (p.Trp1169Ter)
c.3489G>A (p.Trp1163Ter)
c.3435G>A (p.Trp1145Ter)
c.3354G>A (p.Trp1118Ter)
c.3297G>A (p.Trp1099Ter)
c.1383G>A (p.Trp461Ter)
c.561G>A (p.Trp187Ter)
n.3576G>A
c.3603G>A (p.Trp1201Ter)
c.3531G>A (p.Trp1177Ter)
c.3393G>A (p.Trp1131Ter)
c.1479G>A (p.Trp493Ter)
 dbSNP gnomAD v2 gnomAD v4
16g.2111685C>ACA394383013PKD1c.3482G>T (p.Trp1161Leu)
n.310+655G>T
n.430+655G>T
n.432G>T
c.233+131G>T
n.790+655G>T
c.473-3327G>T
n.773+655G>T
c.2226+655G>T (n.2226+655G>T)
n.421+655G>T
c.437G>T (p.Trp146Leu)
c.3560G>T (p.Trp1187Leu)
c.3536G>T (p.Trp1179Leu)
c.3506G>T (p.Trp1169Leu)
c.3488G>T (p.Trp1163Leu)
c.3434G>T (p.Trp1145Leu)
c.3353G>T (p.Trp1118Leu)
c.3296G>T (p.Trp1099Leu)
c.1382G>T (p.Trp461Leu)
c.560G>T (p.Trp187Leu)
n.3575G>T
c.3602G>T (p.Trp1201Leu)
c.3530G>T (p.Trp1177Leu)
c.3392G>T (p.Trp1131Leu)
c.1478G>T (p.Trp493Leu)
 gnomAD v4
16g.2111685C=CA2202047768PKD1c.3482G= (p.Trp1161=)
n.310+655G=
n.430+655G=
n.432G=
c.233+131G=
n.790+655G=
c.473-3327G=
n.773+655G=
c.2226+655G= (n.2226+655G=)
n.421+655G=
c.437G= (p.Trp146=)
c.3560G= (p.Trp1187=)
c.3536G= (p.Trp1179=)
c.3506G= (p.Trp1169=)
c.3488G= (p.Trp1163=)
c.3434G= (p.Trp1145=)
c.3353G= (p.Trp1118=)
c.3296G= (p.Trp1099=)
c.1382G= (p.Trp461=)
c.560G= (p.Trp187=)
n.3575G=
c.3602G= (p.Trp1201=)
c.3530G= (p.Trp1177=)
c.3392G= (p.Trp1131=)
c.1478G= (p.Trp493=)
16g.2111685C>GCA394383015PKD1c.3482G>C (p.Trp1161Ser)
n.310+655G>C
n.430+655G>C
n.432G>C
c.233+131G>C
n.790+655G>C
c.473-3327G>C
n.773+655G>C
c.2226+655G>C (n.2226+655G>C)
n.421+655G>C
c.437G>C (p.Trp146Ser)
c.3560G>C (p.Trp1187Ser)
c.3536G>C (p.Trp1179Ser)
c.3506G>C (p.Trp1169Ser)
c.3488G>C (p.Trp1163Ser)
c.3434G>C (p.Trp1145Ser)
c.3353G>C (p.Trp1118Ser)
c.3296G>C (p.Trp1099Ser)
c.1382G>C (p.Trp461Ser)
c.560G>C (p.Trp187Ser)
n.3575G>C
c.3602G>C (p.Trp1201Ser)
c.3530G>C (p.Trp1177Ser)
c.3392G>C (p.Trp1131Ser)
c.1478G>C (p.Trp493Ser)
16g.2111685C>TCA394383014PKD1c.3482G>A (p.Trp1161Ter)
n.310+655G>A
n.430+655G>A
n.432G>A
c.233+131G>A
n.790+655G>A
c.473-3327G>A
n.773+655G>A
c.2226+655G>A (n.2226+655G>A)
n.421+655G>A
c.437G>A (p.Trp146Ter)
c.3560G>A (p.Trp1187Ter)
c.3536G>A (p.Trp1179Ter)
c.3506G>A (p.Trp1169Ter)
c.3488G>A (p.Trp1163Ter)
c.3434G>A (p.Trp1145Ter)
c.3353G>A (p.Trp1118Ter)
c.3296G>A (p.Trp1099Ter)
c.1382G>A (p.Trp461Ter)
c.560G>A (p.Trp187Ter)
n.3575G>A
c.3602G>A (p.Trp1201Ter)
c.3530G>A (p.Trp1177Ter)
c.3392G>A (p.Trp1131Ter)
c.1478G>A (p.Trp493Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2111686A>CCA394383016PKD1c.3481T>G (p.Trp1161Gly)
n.310+654T>G
n.430+654T>G
n.431T>G
c.233+130T>G
n.790+654T>G
c.473-3328T>G
n.773+654T>G
c.2226+654T>G (n.2226+654T>G)
n.421+654T>G
c.436T>G (p.Trp146Gly)
c.3559T>G (p.Trp1187Gly)
c.3535T>G (p.Trp1179Gly)
c.3505T>G (p.Trp1169Gly)
c.3487T>G (p.Trp1163Gly)
c.3433T>G (p.Trp1145Gly)
c.3352T>G (p.Trp1118Gly)
c.3295T>G (p.Trp1099Gly)
c.1381T>G (p.Trp461Gly)
c.559T>G (p.Trp187Gly)
n.3574T>G
c.3601T>G (p.Trp1201Gly)
c.3529T>G (p.Trp1177Gly)
c.3391T>G (p.Trp1131Gly)
c.1477T>G (p.Trp493Gly)
16g.2111686A>GCA394383018PKD1c.3481T>C (p.Trp1161Arg)
n.310+654T>C
n.430+654T>C
n.431T>C
c.233+130T>C
n.790+654T>C
c.473-3328T>C
n.773+654T>C
c.2226+654T>C (n.2226+654T>C)
n.421+654T>C
c.436T>C (p.Trp146Arg)
c.3559T>C (p.Trp1187Arg)
c.3535T>C (p.Trp1179Arg)
c.3505T>C (p.Trp1169Arg)
c.3487T>C (p.Trp1163Arg)
c.3433T>C (p.Trp1145Arg)
c.3352T>C (p.Trp1118Arg)
c.3295T>C (p.Trp1099Arg)
c.1381T>C (p.Trp461Arg)
c.559T>C (p.Trp187Arg)
n.3574T>C
c.3601T>C (p.Trp1201Arg)
c.3529T>C (p.Trp1177Arg)
c.3391T>C (p.Trp1131Arg)
c.1477T>C (p.Trp493Arg)
 gnomAD v4
16g.2111686A>TCA394383017PKD1c.3481T>A (p.Trp1161Arg)
n.310+654T>A
n.430+654T>A
n.431T>A
c.233+130T>A
n.790+654T>A
c.473-3328T>A
n.773+654T>A
c.2226+654T>A (n.2226+654T>A)
n.421+654T>A
c.436T>A (p.Trp146Arg)
c.3559T>A (p.Trp1187Arg)
c.3535T>A (p.Trp1179Arg)
c.3505T>A (p.Trp1169Arg)
c.3487T>A (p.Trp1163Arg)
c.3433T>A (p.Trp1145Arg)
c.3352T>A (p.Trp1118Arg)
c.3295T>A (p.Trp1099Arg)
c.1381T>A (p.Trp461Arg)
c.559T>A (p.Trp187Arg)
n.3574T>A
c.3601T>A (p.Trp1201Arg)
c.3529T>A (p.Trp1177Arg)
c.3391T>A (p.Trp1131Arg)
c.1477T>A (p.Trp493Arg)
16g.2111687C>ACA7832756PKD1c.3480G>T (p.Thr1160=)
n.310+653G>T
n.430+653G>T
n.430G>T
c.233+129G>T
n.790+653G>T
c.473-3329G>T
n.773+653G>T
c.2226+653G>T (n.2226+653G>T)
n.421+653G>T
c.435G>T (p.Thr145=)
c.3558G>T (p.Thr1186=)
c.3534G>T (p.Thr1178=)
c.3504G>T (p.Thr1168=)
c.3486G>T (p.Thr1162=)
c.3432G>T (p.Thr1144=)
c.3351G>T (p.Thr1117=)
c.3294G>T (p.Thr1098=)
c.1380G>T (p.Thr460=)
c.558G>T (p.Thr186=)
n.3573G>T
c.3600G>T (p.Thr1200=)
c.3528G>T (p.Thr1176=)
c.3390G>T (p.Thr1130=)
c.1476G>T (p.Thr492=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111687C=CA2202047769PKD1c.3480G= (p.Thr1160=)
n.310+653G=
n.430+653G=
n.430G=
c.233+129G=
n.790+653G=
c.473-3329G=
n.773+653G=
c.2226+653G= (n.2226+653G=)
n.421+653G=
c.435G= (p.Thr145=)
c.3558G= (p.Thr1186=)
c.3534G= (p.Thr1178=)
c.3504G= (p.Thr1168=)
c.3486G= (p.Thr1162=)
c.3432G= (p.Thr1144=)
c.3351G= (p.Thr1117=)
c.3294G= (p.Thr1098=)
c.1380G= (p.Thr460=)
c.558G= (p.Thr186=)
n.3573G=
c.3600G= (p.Thr1200=)
c.3528G= (p.Thr1176=)
c.3390G= (p.Thr1130=)
c.1476G= (p.Thr492=)
16g.2111687C>GCA493049852PKD1c.3480G>C (p.Thr1160=)
n.310+653G>C
n.430+653G>C
n.430G>C
c.233+129G>C
n.790+653G>C
c.473-3329G>C
n.773+653G>C
c.2226+653G>C (n.2226+653G>C)
n.421+653G>C
c.435G>C (p.Thr145=)
c.3558G>C (p.Thr1186=)
c.3534G>C (p.Thr1178=)
c.3504G>C (p.Thr1168=)
c.3486G>C (p.Thr1162=)
c.3432G>C (p.Thr1144=)
c.3351G>C (p.Thr1117=)
c.3294G>C (p.Thr1098=)
c.1380G>C (p.Thr460=)
c.558G>C (p.Thr186=)
n.3573G>C
c.3600G>C (p.Thr1200=)
c.3528G>C (p.Thr1176=)
c.3390G>C (p.Thr1130=)
c.1476G>C (p.Thr492=)
16g.2111687C>TCA7832757PKD1c.3480G>A (p.Thr1160=)
n.310+653G>A
n.430+653G>A
n.430G>A
c.233+129G>A
n.790+653G>A
c.473-3329G>A
n.773+653G>A
c.2226+653G>A (n.2226+653G>A)
n.421+653G>A
c.435G>A (p.Thr145=)
c.3558G>A (p.Thr1186=)
c.3534G>A (p.Thr1178=)
c.3504G>A (p.Thr1168=)
c.3486G>A (p.Thr1162=)
c.3432G>A (p.Thr1144=)
c.3351G>A (p.Thr1117=)
c.3294G>A (p.Thr1098=)
c.1380G>A (p.Thr460=)
c.558G>A (p.Thr186=)
n.3573G>A
c.3600G>A (p.Thr1200=)
c.3528G>A (p.Thr1176=)
c.3390G>A (p.Thr1130=)
c.1476G>A (p.Thr492=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111688G>ACA7832758PKD1c.3479C>T (p.Thr1160Met)
n.310+652C>T
n.430+652C>T
n.429C>T
c.233+128C>T
n.790+652C>T
c.473-3330C>T
n.773+652C>T
c.2226+652C>T (n.2226+652C>T)
n.421+652C>T
c.434C>T (p.Thr145Met)
c.3557C>T (p.Thr1186Met)
c.3533C>T (p.Thr1178Met)
c.3503C>T (p.Thr1168Met)
c.3485C>T (p.Thr1162Met)
c.3431C>T (p.Thr1144Met)
c.3350C>T (p.Thr1117Met)
c.3293C>T (p.Thr1098Met)
c.1379C>T (p.Thr460Met)
c.557C>T (p.Thr186Met)
n.3572C>T
c.3599C>T (p.Thr1200Met)
c.3527C>T (p.Thr1176Met)
c.3389C>T (p.Thr1130Met)
c.1475C>T (p.Thr492Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111688G>CCA394383020PKD1c.3479C>G (p.Thr1160Arg)
n.310+652C>G
n.430+652C>G
n.429C>G
c.233+128C>G
n.790+652C>G
c.473-3330C>G
n.773+652C>G
c.2226+652C>G (n.2226+652C>G)
n.421+652C>G
c.434C>G (p.Thr145Arg)
c.3557C>G (p.Thr1186Arg)
c.3533C>G (p.Thr1178Arg)
c.3503C>G (p.Thr1168Arg)
c.3485C>G (p.Thr1162Arg)
c.3431C>G (p.Thr1144Arg)
c.3350C>G (p.Thr1117Arg)
c.3293C>G (p.Thr1098Arg)
c.1379C>G (p.Thr460Arg)
c.557C>G (p.Thr186Arg)
n.3572C>G
c.3599C>G (p.Thr1200Arg)
c.3527C>G (p.Thr1176Arg)
c.3389C>G (p.Thr1130Arg)
c.1475C>G (p.Thr492Arg)
16g.2111688G=CA2202047770PKD1c.3479C= (p.Thr1160=)
n.310+652C=
n.430+652C=
n.429C=
c.233+128C=
n.790+652C=
c.473-3330C=
n.773+652C=
c.2226+652C= (n.2226+652C=)
n.421+652C=
c.434C= (p.Thr145=)
c.3557C= (p.Thr1186=)
c.3533C= (p.Thr1178=)
c.3503C= (p.Thr1168=)
c.3485C= (p.Thr1162=)
c.3431C= (p.Thr1144=)
c.3350C= (p.Thr1117=)
c.3293C= (p.Thr1098=)
c.1379C= (p.Thr460=)
c.557C= (p.Thr186=)
n.3572C=
c.3599C= (p.Thr1200=)
c.3527C= (p.Thr1176=)
c.3389C= (p.Thr1130=)
c.1475C= (p.Thr492=)
16g.2111688G>TCA394383019PKD1c.3479C>A (p.Thr1160Lys)
n.310+652C>A
n.430+652C>A
n.429C>A
c.233+128C>A
n.790+652C>A
c.473-3330C>A
n.773+652C>A
c.2226+652C>A (n.2226+652C>A)
n.421+652C>A
c.434C>A (p.Thr145Lys)
c.3557C>A (p.Thr1186Lys)
c.3533C>A (p.Thr1178Lys)
c.3503C>A (p.Thr1168Lys)
c.3485C>A (p.Thr1162Lys)
c.3431C>A (p.Thr1144Lys)
c.3350C>A (p.Thr1117Lys)
c.3293C>A (p.Thr1098Lys)
c.1379C>A (p.Thr460Lys)
c.557C>A (p.Thr186Lys)
n.3572C>A
c.3599C>A (p.Thr1200Lys)
c.3527C>A (p.Thr1176Lys)
c.3389C>A (p.Thr1130Lys)
c.1475C>A (p.Thr492Lys)
 dbSNP gnomAD v2 gnomAD v4
16g.2111689T>ACA394383021PKD1c.3478A>T (p.Thr1160Ser)
n.310+651A>T
n.430+651A>T
n.428A>T
c.233+127A>T
n.790+651A>T
c.473-3331A>T
n.773+651A>T
c.2226+651A>T (n.2226+651A>T)
n.421+651A>T
c.433A>T (p.Thr145Ser)
c.3556A>T (p.Thr1186Ser)
c.3532A>T (p.Thr1178Ser)
c.3502A>T (p.Thr1168Ser)
c.3484A>T (p.Thr1162Ser)
c.3430A>T (p.Thr1144Ser)
c.3349A>T (p.Thr1117Ser)
c.3292A>T (p.Thr1098Ser)
c.1378A>T (p.Thr460Ser)
c.556A>T (p.Thr186Ser)
n.3571A>T
c.3598A>T (p.Thr1200Ser)
c.3526A>T (p.Thr1176Ser)
c.3388A>T (p.Thr1130Ser)
c.1474A>T (p.Thr492Ser)
 gnomAD v4
16g.2111689T>CCA394383023PKD1c.3478A>G (p.Thr1160Ala)
n.310+651A>G
n.430+651A>G
n.428A>G
c.233+127A>G
n.790+651A>G
c.473-3331A>G
n.773+651A>G
c.2226+651A>G (n.2226+651A>G)
n.421+651A>G
c.433A>G (p.Thr145Ala)
c.3556A>G (p.Thr1186Ala)
c.3532A>G (p.Thr1178Ala)
c.3502A>G (p.Thr1168Ala)
c.3484A>G (p.Thr1162Ala)
c.3430A>G (p.Thr1144Ala)
c.3349A>G (p.Thr1117Ala)
c.3292A>G (p.Thr1098Ala)
c.1378A>G (p.Thr460Ala)
c.556A>G (p.Thr186Ala)
n.3571A>G
c.3598A>G (p.Thr1200Ala)
c.3526A>G (p.Thr1176Ala)
c.3388A>G (p.Thr1130Ala)
c.1474A>G (p.Thr492Ala)
 dbSNP gnomAD v4
16g.2111689T>GCA394383022PKD1c.3478A>C (p.Thr1160Pro)
n.310+651A>C
n.430+651A>C
n.428A>C
c.233+127A>C
n.790+651A>C
c.473-3331A>C
n.773+651A>C
c.2226+651A>C (n.2226+651A>C)
n.421+651A>C
c.433A>C (p.Thr145Pro)
c.3556A>C (p.Thr1186Pro)
c.3532A>C (p.Thr1178Pro)
c.3502A>C (p.Thr1168Pro)
c.3484A>C (p.Thr1162Pro)
c.3430A>C (p.Thr1144Pro)
c.3349A>C (p.Thr1117Pro)
c.3292A>C (p.Thr1098Pro)
c.1378A>C (p.Thr460Pro)
c.556A>C (p.Thr186Pro)
n.3571A>C
c.3598A>C (p.Thr1200Pro)
c.3526A>C (p.Thr1176Pro)
c.3388A>C (p.Thr1130Pro)
c.1474A>C (p.Thr492Pro)
16g.2111689T=CA2202047771PKD1c.3478A= (p.Thr1160=)
n.310+651A=
n.430+651A=
n.428A=
c.233+127A=
n.790+651A=
c.473-3331A=
n.773+651A=
c.2226+651A= (n.2226+651A=)
n.421+651A=
c.433A= (p.Thr145=)
c.3556A= (p.Thr1186=)
c.3532A= (p.Thr1178=)
c.3502A= (p.Thr1168=)
c.3484A= (p.Thr1162=)
c.3430A= (p.Thr1144=)
c.3349A= (p.Thr1117=)
c.3292A= (p.Thr1098=)
c.1378A= (p.Thr460=)
c.556A= (p.Thr186=)
n.3571A=
c.3598A= (p.Thr1200=)
c.3526A= (p.Thr1176=)
c.3388A= (p.Thr1130=)
c.1474A= (p.Thr492=)
16g.2111690G>ACA7832759PKD1c.3477C>T (p.Tyr1159=)
n.310+650C>T
n.430+650C>T
n.427C>T
c.233+126C>T
n.790+650C>T
c.473-3332C>T
n.773+650C>T
c.2226+650C>T (n.2226+650C>T)
n.421+650C>T
c.432C>T (p.Tyr144=)
c.3555C>T (p.Tyr1185=)
c.3531C>T (p.Tyr1177=)
c.3501C>T (p.Tyr1167=)
c.3483C>T (p.Tyr1161=)
c.3429C>T (p.Tyr1143=)
c.3348C>T (p.Tyr1116=)
c.3291C>T (p.Tyr1097=)
c.1377C>T (p.Tyr459=)
c.555C>T (p.Tyr185=)
n.3570C>T
c.3597C>T (p.Tyr1199=)
c.3525C>T (p.Tyr1175=)
c.3387C>T (p.Tyr1129=)
c.1473C>T (p.Tyr491=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111690G>CCA394383024PKD1c.3477C>G (p.Tyr1159Ter)
n.310+650C>G
n.430+650C>G
n.427C>G
c.233+126C>G
n.790+650C>G
c.473-3332C>G
n.773+650C>G
c.2226+650C>G (n.2226+650C>G)
n.421+650C>G
c.432C>G (p.Tyr144Ter)
c.3555C>G (p.Tyr1185Ter)
c.3531C>G (p.Tyr1177Ter)
c.3501C>G (p.Tyr1167Ter)
c.3483C>G (p.Tyr1161Ter)
c.3429C>G (p.Tyr1143Ter)
c.3348C>G (p.Tyr1116Ter)
c.3291C>G (p.Tyr1097Ter)
c.1377C>G (p.Tyr459Ter)
c.555C>G (p.Tyr185Ter)
n.3570C>G
c.3597C>G (p.Tyr1199Ter)
c.3525C>G (p.Tyr1175Ter)
c.3387C>G (p.Tyr1129Ter)
c.1473C>G (p.Tyr491Ter)
16g.2111690G=CA2202047772PKD1c.3477C= (p.Tyr1159=)
n.310+650C=
n.430+650C=
n.427C=
c.233+126C=
n.790+650C=
c.473-3332C=
n.773+650C=
c.2226+650C= (n.2226+650C=)
n.421+650C=
c.432C= (p.Tyr144=)
c.3555C= (p.Tyr1185=)
c.3531C= (p.Tyr1177=)
c.3501C= (p.Tyr1167=)
c.3483C= (p.Tyr1161=)
c.3429C= (p.Tyr1143=)
c.3348C= (p.Tyr1116=)
c.3291C= (p.Tyr1097=)
c.1377C= (p.Tyr459=)
c.555C= (p.Tyr185=)
n.3570C=
c.3597C= (p.Tyr1199=)
c.3525C= (p.Tyr1175=)
c.3387C= (p.Tyr1129=)
c.1473C= (p.Tyr491=)
16g.2111690G>TCA394383025PKD1c.3477C>A (p.Tyr1159Ter)
n.310+650C>A
n.430+650C>A
n.427C>A
c.233+126C>A
n.790+650C>A
c.473-3332C>A
n.773+650C>A
c.2226+650C>A (n.2226+650C>A)
n.421+650C>A
c.432C>A (p.Tyr144Ter)
c.3555C>A (p.Tyr1185Ter)
c.3531C>A (p.Tyr1177Ter)
c.3501C>A (p.Tyr1167Ter)
c.3483C>A (p.Tyr1161Ter)
c.3429C>A (p.Tyr1143Ter)
c.3348C>A (p.Tyr1116Ter)
c.3291C>A (p.Tyr1097Ter)
c.1377C>A (p.Tyr459Ter)
c.555C>A (p.Tyr185Ter)
n.3570C>A
c.3597C>A (p.Tyr1199Ter)
c.3525C>A (p.Tyr1175Ter)
c.3387C>A (p.Tyr1129Ter)
c.1473C>A (p.Tyr491Ter)
 gnomAD v4
16g.2111691T>ACA394383026PKD1c.3476A>T (p.Tyr1159Phe)
n.310+649A>T
n.430+649A>T
n.426A>T
c.233+125A>T
n.790+649A>T
c.473-3333A>T
n.773+649A>T
c.2226+649A>T (n.2226+649A>T)
n.421+649A>T
c.431A>T (p.Tyr144Phe)
c.3554A>T (p.Tyr1185Phe)
c.3530A>T (p.Tyr1177Phe)
c.3500A>T (p.Tyr1167Phe)
c.3482A>T (p.Tyr1161Phe)
c.3428A>T (p.Tyr1143Phe)
c.3347A>T (p.Tyr1116Phe)
c.3290A>T (p.Tyr1097Phe)
c.1376A>T (p.Tyr459Phe)
c.554A>T (p.Tyr185Phe)
n.3569A>T
c.3596A>T (p.Tyr1199Phe)
c.3524A>T (p.Tyr1175Phe)
c.3386A>T (p.Tyr1129Phe)
c.1472A>T (p.Tyr491Phe)
16g.2111691T>CCA394383027PKD1c.3476A>G (p.Tyr1159Cys)
n.310+649A>G
n.430+649A>G
n.426A>G
c.233+125A>G
n.790+649A>G
c.473-3333A>G
n.773+649A>G
c.2226+649A>G (n.2226+649A>G)
n.421+649A>G
c.431A>G (p.Tyr144Cys)
c.3554A>G (p.Tyr1185Cys)
c.3530A>G (p.Tyr1177Cys)
c.3500A>G (p.Tyr1167Cys)
c.3482A>G (p.Tyr1161Cys)
c.3428A>G (p.Tyr1143Cys)
c.3347A>G (p.Tyr1116Cys)
c.3290A>G (p.Tyr1097Cys)
c.1376A>G (p.Tyr459Cys)
c.554A>G (p.Tyr185Cys)
n.3569A>G
c.3596A>G (p.Tyr1199Cys)
c.3524A>G (p.Tyr1175Cys)
c.3386A>G (p.Tyr1129Cys)
c.1472A>G (p.Tyr491Cys)
 dbSNP gnomAD v4
16g.2111691T>GCA394383028PKD1c.3476A>C (p.Tyr1159Ser)
n.310+649A>C
n.430+649A>C
n.426A>C
c.233+125A>C
n.790+649A>C
c.473-3333A>C
n.773+649A>C
c.2226+649A>C (n.2226+649A>C)
n.421+649A>C
c.431A>C (p.Tyr144Ser)
c.3554A>C (p.Tyr1185Ser)
c.3530A>C (p.Tyr1177Ser)
c.3500A>C (p.Tyr1167Ser)
c.3482A>C (p.Tyr1161Ser)
c.3428A>C (p.Tyr1143Ser)
c.3347A>C (p.Tyr1116Ser)
c.3290A>C (p.Tyr1097Ser)
c.1376A>C (p.Tyr459Ser)
c.554A>C (p.Tyr185Ser)
n.3569A>C
c.3596A>C (p.Tyr1199Ser)
c.3524A>C (p.Tyr1175Ser)
c.3386A>C (p.Tyr1129Ser)
c.1472A>C (p.Tyr491Ser)
16g.2111691T=CA2202047773PKD1c.3476A= (p.Tyr1159=)
n.310+649A=
n.430+649A=
n.426A=
c.233+125A=
n.790+649A=
c.473-3333A=
n.773+649A=
c.2226+649A= (n.2226+649A=)
n.421+649A=
c.431A= (p.Tyr144=)
c.3554A= (p.Tyr1185=)
c.3530A= (p.Tyr1177=)
c.3500A= (p.Tyr1167=)
c.3482A= (p.Tyr1161=)
c.3428A= (p.Tyr1143=)
c.3347A= (p.Tyr1116=)
c.3290A= (p.Tyr1097=)
c.1376A= (p.Tyr459=)
c.554A= (p.Tyr185=)
n.3569A=
c.3596A= (p.Tyr1199=)
c.3524A= (p.Tyr1175=)
c.3386A= (p.Tyr1129=)
c.1472A= (p.Tyr491=)
16g.2111692A>CCA394383029PKD1c.3475T>G (p.Tyr1159Asp)
n.310+648T>G
n.430+648T>G
n.425T>G
c.233+124T>G
n.790+648T>G
c.473-3334T>G
n.773+648T>G
c.2226+648T>G (n.2226+648T>G)
n.421+648T>G
c.430T>G (p.Tyr144Asp)
c.3553T>G (p.Tyr1185Asp)
c.3529T>G (p.Tyr1177Asp)
c.3499T>G (p.Tyr1167Asp)
c.3481T>G (p.Tyr1161Asp)
c.3427T>G (p.Tyr1143Asp)
c.3346T>G (p.Tyr1116Asp)
c.3289T>G (p.Tyr1097Asp)
c.1375T>G (p.Tyr459Asp)
c.553T>G (p.Tyr185Asp)
n.3568T>G
c.3595T>G (p.Tyr1199Asp)
c.3523T>G (p.Tyr1175Asp)
c.3385T>G (p.Tyr1129Asp)
c.1471T>G (p.Tyr491Asp)
16g.2111692A>GCA394383030PKD1c.3475T>C (p.Tyr1159His)
n.310+648T>C
n.430+648T>C
n.425T>C
c.233+124T>C
n.790+648T>C
c.473-3334T>C
n.773+648T>C
c.2226+648T>C (n.2226+648T>C)
n.421+648T>C
c.430T>C (p.Tyr144His)
c.3553T>C (p.Tyr1185His)
c.3529T>C (p.Tyr1177His)
c.3499T>C (p.Tyr1167His)
c.3481T>C (p.Tyr1161His)
c.3427T>C (p.Tyr1143His)
c.3346T>C (p.Tyr1116His)
c.3289T>C (p.Tyr1097His)
c.1375T>C (p.Tyr459His)
c.553T>C (p.Tyr185His)
n.3568T>C
c.3595T>C (p.Tyr1199His)
c.3523T>C (p.Tyr1175His)
c.3385T>C (p.Tyr1129His)
c.1471T>C (p.Tyr491His)
16g.2111692A>TCA394383031PKD1c.3475T>A (p.Tyr1159Asn)
n.310+648T>A
n.430+648T>A
n.425T>A
c.233+124T>A
n.790+648T>A
c.473-3334T>A
n.773+648T>A
c.2226+648T>A (n.2226+648T>A)
n.421+648T>A
c.430T>A (p.Tyr144Asn)
c.3553T>A (p.Tyr1185Asn)
c.3529T>A (p.Tyr1177Asn)
c.3499T>A (p.Tyr1167Asn)
c.3481T>A (p.Tyr1161Asn)
c.3427T>A (p.Tyr1143Asn)
c.3346T>A (p.Tyr1116Asn)
c.3289T>A (p.Tyr1097Asn)
c.1375T>A (p.Tyr459Asn)
c.553T>A (p.Tyr185Asn)
n.3568T>A
c.3595T>A (p.Tyr1199Asn)
c.3523T>A (p.Tyr1175Asn)
c.3385T>A (p.Tyr1129Asn)
c.1471T>A (p.Tyr491Asn)
16g.2111694delCA2631132054PKD1c.3475del (p.Tyr1159ThrfsTer12)
n.310+648del
n.430+648del
n.425del
c.233+124del
n.790+648del
c.473-3334del
n.773+648del
c.2226+648del (n.2226+648del)
n.421+648del
c.430del (p.Tyr144ThrfsTer12)
c.3553del (p.Tyr1185ThrfsTer12)
c.3529del (p.Tyr1177ThrfsTer12)
c.3499del (p.Tyr1167ThrfsTer12)
c.3481del (p.Tyr1161ThrfsTer12)
c.3427del (p.Tyr1143ThrfsTer12)
c.3346del (p.Tyr1116ThrfsTer12)
c.3289del (p.Tyr1097ThrfsTer12)
c.1375del (p.Tyr459ThrfsTer12)
c.553del (p.Tyr185ThrfsTer12)
n.3568del
c.3595del (p.Tyr1199ThrfsTer12)
c.3523del (p.Tyr1175ThrfsTer12)
c.3385del (p.Tyr1129ThrfsTer12)
c.1471del (p.Tyr491ThrfsTer12)
 gnomAD v4
16g.2111693A=CA2202047774PKD1c.3474T= (p.Leu1158=)
n.310+647T=
n.430+647T=
n.424T=
c.233+123T=
n.790+647T=
c.473-3335T=
n.773+647T=
c.2226+647T= (n.2226+647T=)
n.421+647T=
c.429T= (p.Leu143=)
c.3552T= (p.Leu1184=)
c.3528T= (p.Leu1176=)
c.3498T= (p.Leu1166=)
c.3480T= (p.Leu1160=)
c.3426T= (p.Leu1142=)
c.3345T= (p.Leu1115=)
c.3288T= (p.Leu1096=)
c.1374T= (p.Leu458=)
c.552T= (p.Leu184=)
n.3567T=
c.3594T= (p.Leu1198=)
c.3522T= (p.Leu1174=)
c.3384T= (p.Leu1128=)
c.1470T= (p.Leu490=)
16g.2111693A>CCA493049865PKD1c.3474T>G (p.Leu1158=)
n.310+647T>G
n.430+647T>G
n.424T>G
c.233+123T>G
n.790+647T>G
c.473-3335T>G
n.773+647T>G
c.2226+647T>G (n.2226+647T>G)
n.421+647T>G
c.429T>G (p.Leu143=)
c.3552T>G (p.Leu1184=)
c.3528T>G (p.Leu1176=)
c.3498T>G (p.Leu1166=)
c.3480T>G (p.Leu1160=)
c.3426T>G (p.Leu1142=)
c.3345T>G (p.Leu1115=)
c.3288T>G (p.Leu1096=)
c.1374T>G (p.Leu458=)
c.552T>G (p.Leu184=)
n.3567T>G
c.3594T>G (p.Leu1198=)
c.3522T>G (p.Leu1174=)
c.3384T>G (p.Leu1128=)
c.1470T>G (p.Leu490=)
 dbSNP gnomAD v4
16g.2111693A>GCA493049867PKD1c.3474T>C (p.Leu1158=)
n.310+647T>C
n.430+647T>C
n.424T>C
c.233+123T>C
n.790+647T>C
c.473-3335T>C
n.773+647T>C
c.2226+647T>C (n.2226+647T>C)
n.421+647T>C
c.429T>C (p.Leu143=)
c.3552T>C (p.Leu1184=)
c.3528T>C (p.Leu1176=)
c.3498T>C (p.Leu1166=)
c.3480T>C (p.Leu1160=)
c.3426T>C (p.Leu1142=)
c.3345T>C (p.Leu1115=)
c.3288T>C (p.Leu1096=)
c.1374T>C (p.Leu458=)
c.552T>C (p.Leu184=)
n.3567T>C
c.3594T>C (p.Leu1198=)
c.3522T>C (p.Leu1174=)
c.3384T>C (p.Leu1128=)
c.1470T>C (p.Leu490=)
16g.2111693A>TCA493049872PKD1c.3474T>A (p.Leu1158=)
n.310+647T>A
n.430+647T>A
n.424T>A
c.233+123T>A
n.790+647T>A
c.473-3335T>A
n.773+647T>A
c.2226+647T>A (n.2226+647T>A)
n.421+647T>A
c.429T>A (p.Leu143=)
c.3552T>A (p.Leu1184=)
c.3528T>A (p.Leu1176=)
c.3498T>A (p.Leu1166=)
c.3480T>A (p.Leu1160=)
c.3426T>A (p.Leu1142=)
c.3345T>A (p.Leu1115=)
c.3288T>A (p.Leu1096=)
c.1374T>A (p.Leu458=)
c.552T>A (p.Leu184=)
n.3567T>A
c.3594T>A (p.Leu1198=)
c.3522T>A (p.Leu1174=)
c.3384T>A (p.Leu1128=)
c.1470T>A (p.Leu490=)
16g.2111694A>CCA394383032PKD1c.3473T>G (p.Leu1158Arg)
n.310+646T>G
n.430+646T>G
n.423T>G
c.233+122T>G
n.790+646T>G
c.473-3336T>G
n.773+646T>G
c.2226+646T>G (n.2226+646T>G)
n.421+646T>G
c.428T>G (p.Leu143Arg)
c.3551T>G (p.Leu1184Arg)
c.3527T>G (p.Leu1176Arg)
c.3497T>G (p.Leu1166Arg)
c.3479T>G (p.Leu1160Arg)
c.3425T>G (p.Leu1142Arg)
c.3344T>G (p.Leu1115Arg)
c.3287T>G (p.Leu1096Arg)
c.1373T>G (p.Leu458Arg)
c.551T>G (p.Leu184Arg)
n.3566T>G
c.3593T>G (p.Leu1198Arg)
c.3521T>G (p.Leu1174Arg)
c.3383T>G (p.Leu1128Arg)
c.1469T>G (p.Leu490Arg)
 gnomAD v4
16g.2111694A>GCA394383033PKD1c.3473T>C (p.Leu1158Pro)
n.310+646T>C
n.430+646T>C
n.423T>C
c.233+122T>C
n.790+646T>C
c.473-3336T>C
n.773+646T>C
c.2226+646T>C (n.2226+646T>C)
n.421+646T>C
c.428T>C (p.Leu143Pro)
c.3551T>C (p.Leu1184Pro)
c.3527T>C (p.Leu1176Pro)
c.3497T>C (p.Leu1166Pro)
c.3479T>C (p.Leu1160Pro)
c.3425T>C (p.Leu1142Pro)
c.3344T>C (p.Leu1115Pro)
c.3287T>C (p.Leu1096Pro)
c.1373T>C (p.Leu458Pro)
c.551T>C (p.Leu184Pro)
n.3566T>C
c.3593T>C (p.Leu1198Pro)
c.3521T>C (p.Leu1174Pro)
c.3383T>C (p.Leu1128Pro)
c.1469T>C (p.Leu490Pro)
 gnomAD v4
16g.2111694A>TCA394383034PKD1c.3473T>A (p.Leu1158His)
n.310+646T>A
n.430+646T>A
n.423T>A
c.233+122T>A
n.790+646T>A
c.473-3336T>A
n.773+646T>A
c.2226+646T>A (n.2226+646T>A)
n.421+646T>A
c.428T>A (p.Leu143His)
c.3551T>A (p.Leu1184His)
c.3527T>A (p.Leu1176His)
c.3497T>A (p.Leu1166His)
c.3479T>A (p.Leu1160His)
c.3425T>A (p.Leu1142His)
c.3344T>A (p.Leu1115His)
c.3287T>A (p.Leu1096His)
c.1373T>A (p.Leu458His)
c.551T>A (p.Leu184His)
n.3566T>A
c.3593T>A (p.Leu1198His)
c.3521T>A (p.Leu1174His)
c.3383T>A (p.Leu1128His)
c.1469T>A (p.Leu490His)
16g.2111695G>ACA394383037PKD1c.3472C>T (p.Leu1158Phe)
n.310+645C>T
n.430+645C>T
n.422C>T
c.233+121C>T
n.790+645C>T
c.473-3337C>T
n.773+645C>T
c.2226+645C>T (n.2226+645C>T)
n.421+645C>T
c.427C>T (p.Leu143Phe)
c.3550C>T (p.Leu1184Phe)
c.3526C>T (p.Leu1176Phe)
c.3496C>T (p.Leu1166Phe)
c.3478C>T (p.Leu1160Phe)
c.3424C>T (p.Leu1142Phe)
c.3343C>T (p.Leu1115Phe)
c.3286C>T (p.Leu1096Phe)
c.1372C>T (p.Leu458Phe)
c.550C>T (p.Leu184Phe)
n.3565C>T
c.3592C>T (p.Leu1198Phe)
c.3520C>T (p.Leu1174Phe)
c.3382C>T (p.Leu1128Phe)
c.1468C>T (p.Leu490Phe)
 dbSNP gnomAD v2 gnomAD v4
16g.2111695G>CCA394383036PKD1c.3472C>G (p.Leu1158Val)
n.310+645C>G
n.430+645C>G
n.422C>G
c.233+121C>G
n.790+645C>G
c.473-3337C>G
n.773+645C>G
c.2226+645C>G (n.2226+645C>G)
n.421+645C>G
c.427C>G (p.Leu143Val)
c.3550C>G (p.Leu1184Val)
c.3526C>G (p.Leu1176Val)
c.3496C>G (p.Leu1166Val)
c.3478C>G (p.Leu1160Val)
c.3424C>G (p.Leu1142Val)
c.3343C>G (p.Leu1115Val)
c.3286C>G (p.Leu1096Val)
c.1372C>G (p.Leu458Val)
c.550C>G (p.Leu184Val)
n.3565C>G
c.3592C>G (p.Leu1198Val)
c.3520C>G (p.Leu1174Val)
c.3382C>G (p.Leu1128Val)
c.1468C>G (p.Leu490Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111695G=CA2202047775PKD1c.3472C= (p.Leu1158=)
n.310+645C=
n.430+645C=
n.422C=
c.233+121C=
n.790+645C=
c.473-3337C=
n.773+645C=
c.2226+645C= (n.2226+645C=)
n.421+645C=
c.427C= (p.Leu143=)
c.3550C= (p.Leu1184=)
c.3526C= (p.Leu1176=)
c.3496C= (p.Leu1166=)
c.3478C= (p.Leu1160=)
c.3424C= (p.Leu1142=)
c.3343C= (p.Leu1115=)
c.3286C= (p.Leu1096=)
c.1372C= (p.Leu458=)
c.550C= (p.Leu184=)
n.3565C=
c.3592C= (p.Leu1198=)
c.3520C= (p.Leu1174=)
c.3382C= (p.Leu1128=)
c.1468C= (p.Leu490=)
16g.2111695G>TCA394383035PKD1c.3472C>A (p.Leu1158Ile)
n.310+645C>A
n.430+645C>A
n.422C>A
c.233+121C>A
n.790+645C>A
c.473-3337C>A
n.773+645C>A
c.2226+645C>A (n.2226+645C>A)
n.421+645C>A
c.427C>A (p.Leu143Ile)
c.3550C>A (p.Leu1184Ile)
c.3526C>A (p.Leu1176Ile)
c.3496C>A (p.Leu1166Ile)
c.3478C>A (p.Leu1160Ile)
c.3424C>A (p.Leu1142Ile)
c.3343C>A (p.Leu1115Ile)
c.3286C>A (p.Leu1096Ile)
c.1372C>A (p.Leu458Ile)
c.550C>A (p.Leu184Ile)
n.3565C>A
c.3592C>A (p.Leu1198Ile)
c.3520C>A (p.Leu1174Ile)
c.3382C>A (p.Leu1128Ile)
c.1468C>A (p.Leu490Ile)
16g.2111695_2111698delinsGAACCA2202047776PKD1c.3469_3472delinsGTTC (p.Val1157=)
n.310+642_310+645delinsGTTC
n.430+642_430+645delinsGTTC
n.419_422delinsGTTC
c.233+118_233+121delinsGTTC
n.790+642_790+645delinsGTTC
c.473-3340_473-3337delinsGTTC
n.773+642_773+645delinsGTTC
c.2226+642_2226+645delinsGTTC (n.2226+642_2226+645delinsGTTC)
n.421+642_421+645delinsGTTC
c.424_427delinsGTTC (p.Val142=)
c.3547_3550delinsGTTC (p.Val1183=)
c.3523_3526delinsGTTC (p.Val1175=)
c.3493_3496delinsGTTC (p.Val1165=)
c.3475_3478delinsGTTC (p.Val1159=)
c.3421_3424delinsGTTC (p.Val1141=)
c.3340_3343delinsGTTC (p.Val1114=)
c.3283_3286delinsGTTC (p.Val1095=)
c.1369_1372delinsGTTC (p.Val457=)
c.547_550delinsGTTC (p.Val183=)
n.3562_3565delinsGTTC
c.3589_3592delinsGTTC (p.Val1197=)
c.3517_3520delinsGTTC (p.Val1173=)
c.3379_3382delinsGTTC (p.Val1127=)
c.1465_1468delinsGTTC (p.Val489=)
16g.2111696A>CCA493049877PKD1c.3471T>G (p.Val1157=)
n.310+644T>G
n.430+644T>G
n.421T>G
c.233+120T>G
n.790+644T>G
c.473-3338T>G
n.773+644T>G
c.2226+644T>G (n.2226+644T>G)
n.421+644T>G
c.426T>G (p.Val142=)
c.3549T>G (p.Val1183=)
c.3525T>G (p.Val1175=)
c.3495T>G (p.Val1165=)
c.3477T>G (p.Val1159=)
c.3423T>G (p.Val1141=)
c.3342T>G (p.Val1114=)
c.3285T>G (p.Val1095=)
c.1371T>G (p.Val457=)
c.549T>G (p.Val183=)
n.3564T>G
c.3591T>G (p.Val1197=)
c.3519T>G (p.Val1173=)
c.3381T>G (p.Val1127=)
c.1467T>G (p.Val489=)
16g.2111696A>GCA493049878PKD1c.3471T>C (p.Val1157=)
n.310+644T>C
n.430+644T>C
n.421T>C
c.233+120T>C
n.790+644T>C
c.473-3338T>C
n.773+644T>C
c.2226+644T>C (n.2226+644T>C)
n.421+644T>C
c.426T>C (p.Val142=)
c.3549T>C (p.Val1183=)
c.3525T>C (p.Val1175=)
c.3495T>C (p.Val1165=)
c.3477T>C (p.Val1159=)
c.3423T>C (p.Val1141=)
c.3342T>C (p.Val1114=)
c.3285T>C (p.Val1095=)
c.1371T>C (p.Val457=)
c.549T>C (p.Val183=)
n.3564T>C
c.3591T>C (p.Val1197=)
c.3519T>C (p.Val1173=)
c.3381T>C (p.Val1127=)
c.1467T>C (p.Val489=)
16g.2111696A>TCA493049880PKD1c.3471T>A (p.Val1157=)
n.310+644T>A
n.430+644T>A
n.421T>A
c.233+120T>A
n.790+644T>A
c.473-3338T>A
n.773+644T>A
c.2226+644T>A (n.2226+644T>A)
n.421+644T>A
c.426T>A (p.Val142=)
c.3549T>A (p.Val1183=)
c.3525T>A (p.Val1175=)
c.3495T>A (p.Val1165=)
c.3477T>A (p.Val1159=)
c.3423T>A (p.Val1141=)
c.3342T>A (p.Val1114=)
c.3285T>A (p.Val1095=)
c.1371T>A (p.Val457=)
c.549T>A (p.Val183=)
n.3564T>A
c.3591T>A (p.Val1197=)
c.3519T>A (p.Val1173=)
c.3381T>A (p.Val1127=)
c.1467T>A (p.Val489=)
16g.2111697_2111699delCA718971230PKD1c.3469_3471del (p.Val1157del)
n.310+642_310+644del
n.430+642_430+644del
n.419_421del
c.233+118_233+120del
n.790+642_790+644del
c.473-3340_473-3338del
n.773+642_773+644del
c.2226+642_2226+644del (n.2226+642_2226+644del)
n.421+642_421+644del
c.424_426del (p.Val142del)
c.3547_3549del (p.Val1183del)
c.3523_3525del (p.Val1175del)
c.3493_3495del (p.Val1165del)
c.3475_3477del (p.Val1159del)
c.3421_3423del (p.Val1141del)
c.3340_3342del (p.Val1114del)
c.3283_3285del (p.Val1095del)
c.1369_1371del (p.Val457del)
c.547_549del (p.Val183del)
n.3562_3564del
c.3589_3591del (p.Val1197del)
c.3517_3519del (p.Val1173del)
c.3379_3381del (p.Val1127del)
c.1465_1467del (p.Val489del)
 dbSNP gnomAD v3 gnomAD v4
16g.2111697A>CCA394383038PKD1c.3470T>G (p.Val1157Gly)
n.310+643T>G
n.430+643T>G
n.420T>G
c.233+119T>G
n.790+643T>G
c.473-3339T>G
n.773+643T>G
c.2226+643T>G (n.2226+643T>G)
n.421+643T>G
c.425T>G (p.Val142Gly)
c.3548T>G (p.Val1183Gly)
c.3524T>G (p.Val1175Gly)
c.3494T>G (p.Val1165Gly)
c.3476T>G (p.Val1159Gly)
c.3422T>G (p.Val1141Gly)
c.3341T>G (p.Val1114Gly)
c.3284T>G (p.Val1095Gly)
c.1370T>G (p.Val457Gly)
c.548T>G (p.Val183Gly)
n.3563T>G
c.3590T>G (p.Val1197Gly)
c.3518T>G (p.Val1173Gly)
c.3380T>G (p.Val1127Gly)
c.1466T>G (p.Val489Gly)
16g.2111697A>GCA394383039PKD1c.3470T>C (p.Val1157Ala)
n.310+643T>C
n.430+643T>C
n.420T>C
c.233+119T>C
n.790+643T>C
c.473-3339T>C
n.773+643T>C
c.2226+643T>C (n.2226+643T>C)
n.421+643T>C
c.425T>C (p.Val142Ala)
c.3548T>C (p.Val1183Ala)
c.3524T>C (p.Val1175Ala)
c.3494T>C (p.Val1165Ala)
c.3476T>C (p.Val1159Ala)
c.3422T>C (p.Val1141Ala)
c.3341T>C (p.Val1114Ala)
c.3284T>C (p.Val1095Ala)
c.1370T>C (p.Val457Ala)
c.548T>C (p.Val183Ala)
n.3563T>C
c.3590T>C (p.Val1197Ala)
c.3518T>C (p.Val1173Ala)
c.3380T>C (p.Val1127Ala)
c.1466T>C (p.Val489Ala)
16g.2111697A>TCA394383040PKD1c.3470T>A (p.Val1157Asp)
n.310+643T>A
n.430+643T>A
n.420T>A
c.233+119T>A
n.790+643T>A
c.473-3339T>A
n.773+643T>A
c.2226+643T>A (n.2226+643T>A)
n.421+643T>A
c.425T>A (p.Val142Asp)
c.3548T>A (p.Val1183Asp)
c.3524T>A (p.Val1175Asp)
c.3494T>A (p.Val1165Asp)
c.3476T>A (p.Val1159Asp)
c.3422T>A (p.Val1141Asp)
c.3341T>A (p.Val1114Asp)
c.3284T>A (p.Val1095Asp)
c.1370T>A (p.Val457Asp)
c.548T>A (p.Val183Asp)
n.3563T>A
c.3590T>A (p.Val1197Asp)
c.3518T>A (p.Val1173Asp)
c.3380T>A (p.Val1127Asp)
c.1466T>A (p.Val489Asp)
16g.2111698C>ACA394383041PKD1c.3469G>T (p.Val1157Phe)
n.310+642G>T
n.430+642G>T
n.419G>T
c.233+118G>T
n.790+642G>T
c.473-3340G>T
n.773+642G>T
c.2226+642G>T (n.2226+642G>T)
n.421+642G>T
c.424G>T (p.Val142Phe)
c.3547G>T (p.Val1183Phe)
c.3523G>T (p.Val1175Phe)
c.3493G>T (p.Val1165Phe)
c.3475G>T (p.Val1159Phe)
c.3421G>T (p.Val1141Phe)
c.3340G>T (p.Val1114Phe)
c.3283G>T (p.Val1095Phe)
c.1369G>T (p.Val457Phe)
c.547G>T (p.Val183Phe)
n.3562G>T
c.3589G>T (p.Val1197Phe)
c.3517G>T (p.Val1173Phe)
c.3379G>T (p.Val1127Phe)
c.1465G>T (p.Val489Phe)
16g.2111698C>GCA394383042PKD1c.3469G>C (p.Val1157Leu)
n.310+642G>C
n.430+642G>C
n.419G>C
c.233+118G>C
n.790+642G>C
c.473-3340G>C
n.773+642G>C
c.2226+642G>C (n.2226+642G>C)
n.421+642G>C
c.424G>C (p.Val142Leu)
c.3547G>C (p.Val1183Leu)
c.3523G>C (p.Val1175Leu)
c.3493G>C (p.Val1165Leu)
c.3475G>C (p.Val1159Leu)
c.3421G>C (p.Val1141Leu)
c.3340G>C (p.Val1114Leu)
c.3283G>C (p.Val1095Leu)
c.1369G>C (p.Val457Leu)
c.547G>C (p.Val183Leu)
n.3562G>C
c.3589G>C (p.Val1197Leu)
c.3517G>C (p.Val1173Leu)
c.3379G>C (p.Val1127Leu)
c.1465G>C (p.Val489Leu)
16g.2111698C>TCA394383043PKD1c.3469G>A (p.Val1157Ile)
n.310+642G>A
n.430+642G>A
n.419G>A
c.233+118G>A
n.790+642G>A
c.473-3340G>A
n.773+642G>A
c.2226+642G>A (n.2226+642G>A)
n.421+642G>A
c.424G>A (p.Val142Ile)
c.3547G>A (p.Val1183Ile)
c.3523G>A (p.Val1175Ile)
c.3493G>A (p.Val1165Ile)
c.3475G>A (p.Val1159Ile)
c.3421G>A (p.Val1141Ile)
c.3340G>A (p.Val1114Ile)
c.3283G>A (p.Val1095Ile)
c.1369G>A (p.Val457Ile)
c.547G>A (p.Val183Ile)
n.3562G>A
c.3589G>A (p.Val1197Ile)
c.3517G>A (p.Val1173Ile)
c.3379G>A (p.Val1127Ile)
c.1465G>A (p.Val489Ile)
16g.2111699A>CCA493049888PKD1c.3468T>G (p.Gly1156=)
n.310+641T>G
n.430+641T>G
n.418T>G
c.233+117T>G
n.790+641T>G
c.473-3341T>G
n.773+641T>G
c.2226+641T>G (n.2226+641T>G)
n.421+641T>G
c.423T>G (p.Gly141=)
c.3546T>G (p.Gly1182=)
c.3522T>G (p.Gly1174=)
c.3492T>G (p.Gly1164=)
c.3474T>G (p.Gly1158=)
c.3420T>G (p.Gly1140=)
c.3339T>G (p.Gly1113=)
c.3282T>G (p.Gly1094=)
c.1368T>G (p.Gly456=)
c.546T>G (p.Gly182=)
n.3561T>G
c.3588T>G (p.Gly1196=)
c.3516T>G (p.Gly1172=)
c.3378T>G (p.Gly1126=)
c.1464T>G (p.Gly488=)
16g.2111699A>GCA493049890PKD1c.3468T>C (p.Gly1156=)
n.310+641T>C
n.430+641T>C
n.418T>C
c.233+117T>C
n.790+641T>C
c.473-3341T>C
n.773+641T>C
c.2226+641T>C (n.2226+641T>C)
n.421+641T>C
c.423T>C (p.Gly141=)
c.3546T>C (p.Gly1182=)
c.3522T>C (p.Gly1174=)
c.3492T>C (p.Gly1164=)
c.3474T>C (p.Gly1158=)
c.3420T>C (p.Gly1140=)
c.3339T>C (p.Gly1113=)
c.3282T>C (p.Gly1094=)
c.1368T>C (p.Gly456=)
c.546T>C (p.Gly182=)
n.3561T>C
c.3588T>C (p.Gly1196=)
c.3516T>C (p.Gly1172=)
c.3378T>C (p.Gly1126=)
c.1464T>C (p.Gly488=)
16g.2111699A>TCA493049893PKD1c.3468T>A (p.Gly1156=)
n.310+641T>A
n.430+641T>A
n.418T>A
c.233+117T>A
n.790+641T>A
c.473-3341T>A
n.773+641T>A
c.2226+641T>A (n.2226+641T>A)
n.421+641T>A
c.423T>A (p.Gly141=)
c.3546T>A (p.Gly1182=)
c.3522T>A (p.Gly1174=)
c.3492T>A (p.Gly1164=)
c.3474T>A (p.Gly1158=)
c.3420T>A (p.Gly1140=)
c.3339T>A (p.Gly1113=)
c.3282T>A (p.Gly1094=)
c.1368T>A (p.Gly456=)
c.546T>A (p.Gly182=)
n.3561T>A
c.3588T>A (p.Gly1196=)
c.3516T>A (p.Gly1172=)
c.3378T>A (p.Gly1126=)
c.1464T>A (p.Gly488=)
16g.2111700C>ACA394383044PKD1c.3467G>T (p.Gly1156Val)
n.310+640G>T
n.430+640G>T
n.417G>T
c.233+116G>T
n.790+640G>T
c.473-3342G>T
n.773+640G>T
c.2226+640G>T (n.2226+640G>T)
n.421+640G>T
c.422G>T (p.Gly141Val)
c.3545G>T (p.Gly1182Val)
c.3521G>T (p.Gly1174Val)
c.3491G>T (p.Gly1164Val)
c.3473G>T (p.Gly1158Val)
c.3419G>T (p.Gly1140Val)
c.3338G>T (p.Gly1113Val)
c.3281G>T (p.Gly1094Val)
c.1367G>T (p.Gly456Val)
c.545G>T (p.Gly182Val)
n.3560G>T
c.3587G>T (p.Gly1196Val)
c.3515G>T (p.Gly1172Val)
c.3377G>T (p.Gly1126Val)
c.1463G>T (p.Gly488Val)
 gnomAD v4
16g.2111700C=CA2202047777PKD1c.3467G= (p.Gly1156=)
n.310+640G=
n.430+640G=
n.417G=
c.233+116G=
n.790+640G=
c.473-3342G=
n.773+640G=
c.2226+640G= (n.2226+640G=)
n.421+640G=
c.422G= (p.Gly141=)
c.3545G= (p.Gly1182=)
c.3521G= (p.Gly1174=)
c.3491G= (p.Gly1164=)
c.3473G= (p.Gly1158=)
c.3419G= (p.Gly1140=)
c.3338G= (p.Gly1113=)
c.3281G= (p.Gly1094=)
c.1367G= (p.Gly456=)
c.545G= (p.Gly182=)
n.3560G=
c.3587G= (p.Gly1196=)
c.3515G= (p.Gly1172=)
c.3377G= (p.Gly1126=)
c.1463G= (p.Gly488=)
16g.2111700C>GCA7832760PKD1c.3467G>C (p.Gly1156Ala)
n.310+640G>C
n.430+640G>C
n.417G>C
c.233+116G>C
n.790+640G>C
c.473-3342G>C
n.773+640G>C
c.2226+640G>C (n.2226+640G>C)
n.421+640G>C
c.422G>C (p.Gly141Ala)
c.3545G>C (p.Gly1182Ala)
c.3521G>C (p.Gly1174Ala)
c.3491G>C (p.Gly1164Ala)
c.3473G>C (p.Gly1158Ala)
c.3419G>C (p.Gly1140Ala)
c.3338G>C (p.Gly1113Ala)
c.3281G>C (p.Gly1094Ala)
c.1367G>C (p.Gly456Ala)
c.545G>C (p.Gly182Ala)
n.3560G>C
c.3587G>C (p.Gly1196Ala)
c.3515G>C (p.Gly1172Ala)
c.3377G>C (p.Gly1126Ala)
c.1463G>C (p.Gly488Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111700C>TCA394383045PKD1c.3467G>A (p.Gly1156Asp)
n.310+640G>A
n.430+640G>A
n.417G>A
c.233+116G>A
n.790+640G>A
c.473-3342G>A
n.773+640G>A
c.2226+640G>A (n.2226+640G>A)
n.421+640G>A
c.422G>A (p.Gly141Asp)
c.3545G>A (p.Gly1182Asp)
c.3521G>A (p.Gly1174Asp)
c.3491G>A (p.Gly1164Asp)
c.3473G>A (p.Gly1158Asp)
c.3419G>A (p.Gly1140Asp)
c.3338G>A (p.Gly1113Asp)
c.3281G>A (p.Gly1094Asp)
c.1367G>A (p.Gly456Asp)
c.545G>A (p.Gly182Asp)
n.3560G>A
c.3587G>A (p.Gly1196Asp)
c.3515G>A (p.Gly1172Asp)
c.3377G>A (p.Gly1126Asp)
c.1463G>A (p.Gly488Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111704delCA2631132091PKD1c.3467del (p.Gly1156ValfsTer15)
n.310+640del
n.430+640del
n.417del
c.233+116del
n.790+640del
c.473-3342del
n.773+640del
c.2226+640del (n.2226+640del)
n.421+640del
c.422del (p.Gly141ValfsTer15)
c.3545del (p.Gly1182ValfsTer15)
c.3521del (p.Gly1174ValfsTer15)
c.3491del (p.Gly1164ValfsTer15)
c.3473del (p.Gly1158ValfsTer15)
c.3419del (p.Gly1140ValfsTer15)
c.3338del (p.Gly1113ValfsTer15)
c.3281del (p.Gly1094ValfsTer15)
c.1367del (p.Gly456ValfsTer15)
c.545del (p.Gly182ValfsTer15)
n.3560del
c.3587del (p.Gly1196ValfsTer15)
c.3515del (p.Gly1172ValfsTer15)
c.3377del (p.Gly1126ValfsTer15)
c.1463del (p.Gly488ValfsTer15)
 gnomAD v4
16g.2111701C>ACA394383046PKD1c.3466G>T (p.Gly1156Cys)
n.310+639G>T
n.430+639G>T
n.416G>T
c.233+115G>T
n.790+639G>T
c.473-3343G>T
n.773+639G>T
c.2226+639G>T (n.2226+639G>T)
n.421+639G>T
c.421G>T (p.Gly141Cys)
c.3544G>T (p.Gly1182Cys)
c.3520G>T (p.Gly1174Cys)
c.3490G>T (p.Gly1164Cys)
c.3472G>T (p.Gly1158Cys)
c.3418G>T (p.Gly1140Cys)
c.3337G>T (p.Gly1113Cys)
c.3280G>T (p.Gly1094Cys)
c.1366G>T (p.Gly456Cys)
c.544G>T (p.Gly182Cys)
n.3559G>T
c.3586G>T (p.Gly1196Cys)
c.3514G>T (p.Gly1172Cys)
c.3376G>T (p.Gly1126Cys)
c.1462G>T (p.Gly488Cys)
 dbSNP gnomAD v2 gnomAD v4
16g.2111701C=CA2202047778PKD1c.3466G= (p.Gly1156=)
n.310+639G=
n.430+639G=
n.416G=
c.233+115G=
n.790+639G=
c.473-3343G=
n.773+639G=
c.2226+639G= (n.2226+639G=)
n.421+639G=
c.421G= (p.Gly141=)
c.3544G= (p.Gly1182=)
c.3520G= (p.Gly1174=)
c.3490G= (p.Gly1164=)
c.3472G= (p.Gly1158=)
c.3418G= (p.Gly1140=)
c.3337G= (p.Gly1113=)
c.3280G= (p.Gly1094=)
c.1366G= (p.Gly456=)
c.544G= (p.Gly182=)
n.3559G=
c.3586G= (p.Gly1196=)
c.3514G= (p.Gly1172=)
c.3376G= (p.Gly1126=)
c.1462G= (p.Gly488=)
16g.2111701C>GCA394383047PKD1c.3466G>C (p.Gly1156Arg)
n.310+639G>C
n.430+639G>C
n.416G>C
c.233+115G>C
n.790+639G>C
c.473-3343G>C
n.773+639G>C
c.2226+639G>C (n.2226+639G>C)
n.421+639G>C
c.421G>C (p.Gly141Arg)
c.3544G>C (p.Gly1182Arg)
c.3520G>C (p.Gly1174Arg)
c.3490G>C (p.Gly1164Arg)
c.3472G>C (p.Gly1158Arg)
c.3418G>C (p.Gly1140Arg)
c.3337G>C (p.Gly1113Arg)
c.3280G>C (p.Gly1094Arg)
c.1366G>C (p.Gly456Arg)
c.544G>C (p.Gly182Arg)
n.3559G>C
c.3586G>C (p.Gly1196Arg)
c.3514G>C (p.Gly1172Arg)
c.3376G>C (p.Gly1126Arg)
c.1462G>C (p.Gly488Arg)
 dbSNP gnomAD v4
16g.2111701C>TCA394383048PKD1c.3466G>A (p.Gly1156Ser)
n.310+639G>A
n.430+639G>A
n.416G>A
c.233+115G>A
n.790+639G>A
c.473-3343G>A
n.773+639G>A
c.2226+639G>A (n.2226+639G>A)
n.421+639G>A
c.421G>A (p.Gly141Ser)
c.3544G>A (p.Gly1182Ser)
c.3520G>A (p.Gly1174Ser)
c.3490G>A (p.Gly1164Ser)
c.3472G>A (p.Gly1158Ser)
c.3418G>A (p.Gly1140Ser)
c.3337G>A (p.Gly1113Ser)
c.3280G>A (p.Gly1094Ser)
c.1366G>A (p.Gly456Ser)
c.544G>A (p.Gly182Ser)
n.3559G>A
c.3586G>A (p.Gly1196Ser)
c.3514G>A (p.Gly1172Ser)
c.3376G>A (p.Gly1126Ser)
c.1462G>A (p.Gly488Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.2111702C>ACA493049904PKD1c.3465G>T (p.Gly1155=)
n.310+638G>T
n.430+638G>T
n.415G>T
c.233+114G>T
n.790+638G>T
c.473-3344G>T
n.773+638G>T
c.2226+638G>T (n.2226+638G>T)
n.421+638G>T
c.420G>T (p.Gly140=)
c.3543G>T (p.Gly1181=)
c.3519G>T (p.Gly1173=)
c.3489G>T (p.Gly1163=)
c.3471G>T (p.Gly1157=)
c.3417G>T (p.Gly1139=)
c.3336G>T (p.Gly1112=)
c.3279G>T (p.Gly1093=)
c.1365G>T (p.Gly455=)
c.543G>T (p.Gly181=)
n.3558G>T
c.3585G>T (p.Gly1195=)
c.3513G>T (p.Gly1171=)
c.3375G>T (p.Gly1125=)
c.1461G>T (p.Gly487=)
 gnomAD v4
16g.2111702C>GCA493049905PKD1c.3465G>C (p.Gly1155=)
n.310+638G>C
n.430+638G>C
n.415G>C
c.233+114G>C
n.790+638G>C
c.473-3344G>C
n.773+638G>C
c.2226+638G>C (n.2226+638G>C)
n.421+638G>C
c.420G>C (p.Gly140=)
c.3543G>C (p.Gly1181=)
c.3519G>C (p.Gly1173=)
c.3489G>C (p.Gly1163=)
c.3471G>C (p.Gly1157=)
c.3417G>C (p.Gly1139=)
c.3336G>C (p.Gly1112=)
c.3279G>C (p.Gly1093=)
c.1365G>C (p.Gly455=)
c.543G>C (p.Gly181=)
n.3558G>C
c.3585G>C (p.Gly1195=)
c.3513G>C (p.Gly1171=)
c.3375G>C (p.Gly1125=)
c.1461G>C (p.Gly487=)
16g.2111702C>TCA493049906PKD1c.3465G>A (p.Gly1155=)
n.310+638G>A
n.430+638G>A
n.415G>A
c.233+114G>A
n.790+638G>A
c.473-3344G>A
n.773+638G>A
c.2226+638G>A (n.2226+638G>A)
n.421+638G>A
c.420G>A (p.Gly140=)
c.3543G>A (p.Gly1181=)
c.3519G>A (p.Gly1173=)
c.3489G>A (p.Gly1163=)
c.3471G>A (p.Gly1157=)
c.3417G>A (p.Gly1139=)
c.3336G>A (p.Gly1112=)
c.3279G>A (p.Gly1093=)
c.1365G>A (p.Gly455=)
c.543G>A (p.Gly181=)
n.3558G>A
c.3585G>A (p.Gly1195=)
c.3513G>A (p.Gly1171=)
c.3375G>A (p.Gly1125=)
c.1461G>A (p.Gly487=)
16g.2111703C>ACA394383049PKD1c.3464G>T (p.Gly1155Val)
n.310+637G>T
n.430+637G>T
n.414G>T
c.233+113G>T
n.790+637G>T
c.473-3345G>T
n.773+637G>T
c.2226+637G>T (n.2226+637G>T)
n.421+637G>T
c.419G>T (p.Gly140Val)
c.3542G>T (p.Gly1181Val)
c.3518G>T (p.Gly1173Val)
c.3488G>T (p.Gly1163Val)
c.3470G>T (p.Gly1157Val)
c.3416G>T (p.Gly1139Val)
c.3335G>T (p.Gly1112Val)
c.3278G>T (p.Gly1093Val)
c.1364G>T (p.Gly455Val)
c.542G>T (p.Gly181Val)
n.3557G>T
c.3584G>T (p.Gly1195Val)
c.3512G>T (p.Gly1171Val)
c.3374G>T (p.Gly1125Val)
c.1460G>T (p.Gly487Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111703C=CA2202047779PKD1c.3464G= (p.Gly1155=)
n.310+637G=
n.430+637G=
n.414G=
c.233+113G=
n.790+637G=
c.473-3345G=
n.773+637G=
c.2226+637G= (n.2226+637G=)
n.421+637G=
c.419G= (p.Gly140=)
c.3542G= (p.Gly1181=)
c.3518G= (p.Gly1173=)
c.3488G= (p.Gly1163=)
c.3470G= (p.Gly1157=)
c.3416G= (p.Gly1139=)
c.3335G= (p.Gly1112=)
c.3278G= (p.Gly1093=)
c.1364G= (p.Gly455=)
c.542G= (p.Gly181=)
n.3557G=
c.3584G= (p.Gly1195=)
c.3512G= (p.Gly1171=)
c.3374G= (p.Gly1125=)
c.1460G= (p.Gly487=)
16g.2111703C>GCA394383051PKD1c.3464G>C (p.Gly1155Ala)
n.310+637G>C
n.430+637G>C
n.414G>C
c.233+113G>C
n.790+637G>C
c.473-3345G>C
n.773+637G>C
c.2226+637G>C (n.2226+637G>C)
n.421+637G>C
c.419G>C (p.Gly140Ala)
c.3542G>C (p.Gly1181Ala)
c.3518G>C (p.Gly1173Ala)
c.3488G>C (p.Gly1163Ala)
c.3470G>C (p.Gly1157Ala)
c.3416G>C (p.Gly1139Ala)
c.3335G>C (p.Gly1112Ala)
c.3278G>C (p.Gly1093Ala)
c.1364G>C (p.Gly455Ala)
c.542G>C (p.Gly181Ala)
n.3557G>C
c.3584G>C (p.Gly1195Ala)
c.3512G>C (p.Gly1171Ala)
c.3374G>C (p.Gly1125Ala)
c.1460G>C (p.Gly487Ala)
16g.2111703C>TCA394383050PKD1c.3464G>A (p.Gly1155Glu)
n.310+637G>A
n.430+637G>A
n.414G>A
c.233+113G>A
n.790+637G>A
c.473-3345G>A
n.773+637G>A
c.2226+637G>A (n.2226+637G>A)
n.421+637G>A
c.419G>A (p.Gly140Glu)
c.3542G>A (p.Gly1181Glu)
c.3518G>A (p.Gly1173Glu)
c.3488G>A (p.Gly1163Glu)
c.3470G>A (p.Gly1157Glu)
c.3416G>A (p.Gly1139Glu)
c.3335G>A (p.Gly1112Glu)
c.3278G>A (p.Gly1093Glu)
c.1364G>A (p.Gly455Glu)
c.542G>A (p.Gly181Glu)
n.3557G>A
c.3584G>A (p.Gly1195Glu)
c.3512G>A (p.Gly1171Glu)
c.3374G>A (p.Gly1125Glu)
c.1460G>A (p.Gly487Glu)
16g.2111704C>ACA394383052PKD1c.3463G>T (p.Gly1155Trp)
n.310+636G>T
n.430+636G>T
n.413G>T
c.233+112G>T
n.790+636G>T
c.473-3346G>T
n.773+636G>T
c.2226+636G>T (n.2226+636G>T)
n.421+636G>T
c.418G>T (p.Gly140Trp)
c.3541G>T (p.Gly1181Trp)
c.3517G>T (p.Gly1173Trp)
c.3487G>T (p.Gly1163Trp)
c.3469G>T (p.Gly1157Trp)
c.3415G>T (p.Gly1139Trp)
c.3334G>T (p.Gly1112Trp)
c.3277G>T (p.Gly1093Trp)
c.1363G>T (p.Gly455Trp)
c.541G>T (p.Gly181Trp)
n.3556G>T
c.3583G>T (p.Gly1195Trp)
c.3511G>T (p.Gly1171Trp)
c.3373G>T (p.Gly1125Trp)
c.1459G>T (p.Gly487Trp)
 gnomAD v4
16g.2111704C=CA2202047780PKD1c.3463G= (p.Gly1155=)
n.310+636G=
n.430+636G=
n.413G=
c.233+112G=
n.790+636G=
c.473-3346G=
n.773+636G=
c.2226+636G= (n.2226+636G=)
n.421+636G=
c.418G= (p.Gly140=)
c.3541G= (p.Gly1181=)
c.3517G= (p.Gly1173=)
c.3487G= (p.Gly1163=)
c.3469G= (p.Gly1157=)
c.3415G= (p.Gly1139=)
c.3334G= (p.Gly1112=)
c.3277G= (p.Gly1093=)
c.1363G= (p.Gly455=)
c.541G= (p.Gly181=)
n.3556G=
c.3583G= (p.Gly1195=)
c.3511G= (p.Gly1171=)
c.3373G= (p.Gly1125=)
c.1459G= (p.Gly487=)
16g.2111704C>GCA394383053PKD1c.3463G>C (p.Gly1155Arg)
n.310+636G>C
n.430+636G>C
n.413G>C
c.233+112G>C
n.790+636G>C
c.473-3346G>C
n.773+636G>C
c.2226+636G>C (n.2226+636G>C)
n.421+636G>C
c.418G>C (p.Gly140Arg)
c.3541G>C (p.Gly1181Arg)
c.3517G>C (p.Gly1173Arg)
c.3487G>C (p.Gly1163Arg)
c.3469G>C (p.Gly1157Arg)
c.3415G>C (p.Gly1139Arg)
c.3334G>C (p.Gly1112Arg)
c.3277G>C (p.Gly1093Arg)
c.1363G>C (p.Gly455Arg)
c.541G>C (p.Gly181Arg)
n.3556G>C
c.3583G>C (p.Gly1195Arg)
c.3511G>C (p.Gly1171Arg)
c.3373G>C (p.Gly1125Arg)
c.1459G>C (p.Gly487Arg)
16g.2111704C>TCA7832761PKD1c.3463G>A (p.Gly1155Arg)
n.310+636G>A
n.430+636G>A
n.413G>A
c.233+112G>A
n.790+636G>A
c.473-3346G>A
n.773+636G>A
c.2226+636G>A (n.2226+636G>A)
n.421+636G>A
c.418G>A (p.Gly140Arg)
c.3541G>A (p.Gly1181Arg)
c.3517G>A (p.Gly1173Arg)
c.3487G>A (p.Gly1163Arg)
c.3469G>A (p.Gly1157Arg)
c.3415G>A (p.Gly1139Arg)
c.3334G>A (p.Gly1112Arg)
c.3277G>A (p.Gly1093Arg)
c.1363G>A (p.Gly455Arg)
c.541G>A (p.Gly181Arg)
n.3556G>A
c.3583G>A (p.Gly1195Arg)
c.3511G>A (p.Gly1171Arg)
c.3373G>A (p.Gly1125Arg)
c.1459G>A (p.Gly487Arg)
 dbSNP ExAC gnomAD v2
16g.2111705A=CA2202047781PKD1c.3462T= (p.Pro1154=)
n.310+635T=
n.430+635T=
n.412T=
c.233+111T=
n.790+635T=
c.473-3347T=
n.773+635T=
c.2226+635T= (n.2226+635T=)
n.421+635T=
c.417T= (p.Pro139=)
c.3540T= (p.Pro1180=)
c.3516T= (p.Pro1172=)
c.3486T= (p.Pro1162=)
c.3468T= (p.Pro1156=)
c.3414T= (p.Pro1138=)
c.3333T= (p.Pro1111=)
c.3276T= (p.Pro1092=)
c.1362T= (p.Pro454=)
c.540T= (p.Pro180=)
n.3555T=
c.3582T= (p.Pro1194=)
c.3510T= (p.Pro1170=)
c.3372T= (p.Pro1124=)
c.1458T= (p.Pro486=)
16g.2111705A>CCA493049925PKD1c.3462T>G (p.Pro1154=)
n.310+635T>G
n.430+635T>G
n.412T>G
c.233+111T>G
n.790+635T>G
c.473-3347T>G
n.773+635T>G
c.2226+635T>G (n.2226+635T>G)
n.421+635T>G
c.417T>G (p.Pro139=)
c.3540T>G (p.Pro1180=)
c.3516T>G (p.Pro1172=)
c.3486T>G (p.Pro1162=)
c.3468T>G (p.Pro1156=)
c.3414T>G (p.Pro1138=)
c.3333T>G (p.Pro1111=)
c.3276T>G (p.Pro1092=)
c.1362T>G (p.Pro454=)
c.540T>G (p.Pro180=)
n.3555T>G
c.3582T>G (p.Pro1194=)
c.3510T>G (p.Pro1170=)
c.3372T>G (p.Pro1124=)
c.1458T>G (p.Pro486=)
 dbSNP gnomAD v2 gnomAD v4
16g.2111705A>GCA493049923PKD1c.3462T>C (p.Pro1154=)
n.310+635T>C
n.430+635T>C
n.412T>C
c.233+111T>C
n.790+635T>C
c.473-3347T>C
n.773+635T>C
c.2226+635T>C (n.2226+635T>C)
n.421+635T>C
c.417T>C (p.Pro139=)
c.3540T>C (p.Pro1180=)
c.3516T>C (p.Pro1172=)
c.3486T>C (p.Pro1162=)
c.3468T>C (p.Pro1156=)
c.3414T>C (p.Pro1138=)
c.3333T>C (p.Pro1111=)
c.3276T>C (p.Pro1092=)
c.1362T>C (p.Pro454=)
c.540T>C (p.Pro180=)
n.3555T>C
c.3582T>C (p.Pro1194=)
c.3510T>C (p.Pro1170=)
c.3372T>C (p.Pro1124=)
c.1458T>C (p.Pro486=)
 gnomAD v4
16g.2111705A>TCA493049922PKD1c.3462T>A (p.Pro1154=)
n.310+635T>A
n.430+635T>A
n.412T>A
c.233+111T>A
n.790+635T>A
c.473-3347T>A
n.773+635T>A
c.2226+635T>A (n.2226+635T>A)
n.421+635T>A
c.417T>A (p.Pro139=)
c.3540T>A (p.Pro1180=)
c.3516T>A (p.Pro1172=)
c.3486T>A (p.Pro1162=)
c.3468T>A (p.Pro1156=)
c.3414T>A (p.Pro1138=)
c.3333T>A (p.Pro1111=)
c.3276T>A (p.Pro1092=)
c.1362T>A (p.Pro454=)
c.540T>A (p.Pro180=)
n.3555T>A
c.3582T>A (p.Pro1194=)
c.3510T>A (p.Pro1170=)
c.3372T>A (p.Pro1124=)
c.1458T>A (p.Pro486=)
16g.2111706G>ACA394383054PKD1c.3461C>T (p.Pro1154Leu)
n.310+634C>T
n.430+634C>T
n.411C>T
c.233+110C>T
n.790+634C>T
c.473-3348C>T
n.773+634C>T
c.2226+634C>T (n.2226+634C>T)
n.421+634C>T
c.416C>T (p.Pro139Leu)
c.3539C>T (p.Pro1180Leu)
c.3515C>T (p.Pro1172Leu)
c.3485C>T (p.Pro1162Leu)
c.3467C>T (p.Pro1156Leu)
c.3413C>T (p.Pro1138Leu)
c.3332C>T (p.Pro1111Leu)
c.3275C>T (p.Pro1092Leu)
c.1361C>T (p.Pro454Leu)
c.539C>T (p.Pro180Leu)
n.3554C>T
c.3581C>T (p.Pro1194Leu)
c.3509C>T (p.Pro1170Leu)
c.3371C>T (p.Pro1124Leu)
c.1457C>T (p.Pro486Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.2111706G>CCA394383055PKD1c.3461C>G (p.Pro1154Arg)
n.310+634C>G
n.430+634C>G
n.411C>G
c.233+110C>G
n.790+634C>G
c.473-3348C>G
n.773+634C>G
c.2226+634C>G (n.2226+634C>G)
n.421+634C>G
c.416C>G (p.Pro139Arg)
c.3539C>G (p.Pro1180Arg)
c.3515C>G (p.Pro1172Arg)
c.3485C>G (p.Pro1162Arg)
c.3467C>G (p.Pro1156Arg)
c.3413C>G (p.Pro1138Arg)
c.3332C>G (p.Pro1111Arg)
c.3275C>G (p.Pro1092Arg)
c.1361C>G (p.Pro454Arg)
c.539C>G (p.Pro180Arg)
n.3554C>G
c.3581C>G (p.Pro1194Arg)
c.3509C>G (p.Pro1170Arg)
c.3371C>G (p.Pro1124Arg)
c.1457C>G (p.Pro486Arg)
16g.2111706G=CA2202047782PKD1c.3461C= (p.Pro1154=)
n.310+634C=
n.430+634C=
n.411C=
c.233+110C=
n.790+634C=
c.473-3348C=
n.773+634C=
c.2226+634C= (n.2226+634C=)
n.421+634C=
c.416C= (p.Pro139=)
c.3539C= (p.Pro1180=)
c.3515C= (p.Pro1172=)
c.3485C= (p.Pro1162=)
c.3467C= (p.Pro1156=)
c.3413C= (p.Pro1138=)
c.3332C= (p.Pro1111=)
c.3275C= (p.Pro1092=)
c.1361C= (p.Pro454=)
c.539C= (p.Pro180=)
n.3554C=
c.3581C= (p.Pro1194=)
c.3509C= (p.Pro1170=)
c.3371C= (p.Pro1124=)
c.1457C= (p.Pro486=)
16g.2111706G>TCA394383056PKD1c.3461C>A (p.Pro1154His)
n.310+634C>A
n.430+634C>A
n.411C>A
c.233+110C>A
n.790+634C>A
c.473-3348C>A
n.773+634C>A
c.2226+634C>A (n.2226+634C>A)
n.421+634C>A
c.416C>A (p.Pro139His)
c.3539C>A (p.Pro1180His)
c.3515C>A (p.Pro1172His)
c.3485C>A (p.Pro1162His)
c.3467C>A (p.Pro1156His)
c.3413C>A (p.Pro1138His)
c.3332C>A (p.Pro1111His)
c.3275C>A (p.Pro1092His)
c.1361C>A (p.Pro454His)
c.539C>A (p.Pro180His)
n.3554C>A
c.3581C>A (p.Pro1194His)
c.3509C>A (p.Pro1170His)
c.3371C>A (p.Pro1124His)
c.1457C>A (p.Pro486His)
 gnomAD v4
16g.2111707G>ACA394383057PKD1c.3460C>T (p.Pro1154Ser)
n.310+633C>T
n.430+633C>T
n.410C>T
c.233+109C>T
n.790+633C>T
c.473-3349C>T
n.773+633C>T
c.2226+633C>T (n.2226+633C>T)
n.421+633C>T
c.415C>T (p.Pro139Ser)
c.3538C>T (p.Pro1180Ser)
c.3514C>T (p.Pro1172Ser)
c.3484C>T (p.Pro1162Ser)
c.3466C>T (p.Pro1156Ser)
c.3412C>T (p.Pro1138Ser)
c.3331C>T (p.Pro1111Ser)
c.3274C>T (p.Pro1092Ser)
c.1360C>T (p.Pro454Ser)
c.538C>T (p.Pro180Ser)
n.3553C>T
c.3580C>T (p.Pro1194Ser)
c.3508C>T (p.Pro1170Ser)
c.3370C>T (p.Pro1124Ser)
c.1456C>T (p.Pro486Ser)
16g.2111707G>CCA394383058PKD1c.3460C>G (p.Pro1154Ala)
n.310+633C>G
n.430+633C>G
n.410C>G
c.233+109C>G
n.790+633C>G
c.473-3349C>G
n.773+633C>G
c.2226+633C>G (n.2226+633C>G)
n.421+633C>G
c.415C>G (p.Pro139Ala)
c.3538C>G (p.Pro1180Ala)
c.3514C>G (p.Pro1172Ala)
c.3484C>G (p.Pro1162Ala)
c.3466C>G (p.Pro1156Ala)
c.3412C>G (p.Pro1138Ala)
c.3331C>G (p.Pro1111Ala)
c.3274C>G (p.Pro1092Ala)
c.1360C>G (p.Pro454Ala)
c.538C>G (p.Pro180Ala)
n.3553C>G
c.3580C>G (p.Pro1194Ala)
c.3508C>G (p.Pro1170Ala)
c.3370C>G (p.Pro1124Ala)
c.1456C>G (p.Pro486Ala)
16g.2111707G>TCA394383059PKD1c.3460C>A (p.Pro1154Thr)
n.310+633C>A
n.430+633C>A
n.410C>A
c.233+109C>A
n.790+633C>A
c.473-3349C>A
n.773+633C>A
c.2226+633C>A (n.2226+633C>A)
n.421+633C>A
c.415C>A (p.Pro139Thr)
c.3538C>A (p.Pro1180Thr)
c.3514C>A (p.Pro1172Thr)
c.3484C>A (p.Pro1162Thr)
c.3466C>A (p.Pro1156Thr)
c.3412C>A (p.Pro1138Thr)
c.3331C>A (p.Pro1111Thr)
c.3274C>A (p.Pro1092Thr)
c.1360C>A (p.Pro454Thr)
c.538C>A (p.Pro180Thr)
n.3553C>A
c.3580C>A (p.Pro1194Thr)
c.3508C>A (p.Pro1170Thr)
c.3370C>A (p.Pro1124Thr)
c.1456C>A (p.Pro486Thr)
16g.2111708C>ACA493049935PKD1c.3459G>T (p.Ser1153=)
n.310+632G>T
n.430+632G>T
n.409G>T
c.233+108G>T
n.790+632G>T
c.473-3350G>T
n.773+632G>T
c.2226+632G>T (n.2226+632G>T)
n.421+632G>T
c.414G>T (p.Ser138=)
c.3537G>T (p.Ser1179=)
c.3513G>T (p.Ser1171=)
c.3483G>T (p.Ser1161=)
c.3465G>T (p.Ser1155=)
c.3411G>T (p.Ser1137=)
c.3330G>T (p.Ser1110=)
c.3273G>T (p.Ser1091=)
c.1359G>T (p.Ser453=)
c.537G>T (p.Ser179=)
n.3552G>T
c.3579G>T (p.Ser1193=)
c.3507G>T (p.Ser1169=)
c.3369G>T (p.Ser1123=)
c.1455G>T (p.Ser485=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.2111708C=CA2202047783PKD1c.3459G= (p.Ser1153=)
n.310+632G=
n.430+632G=
n.409G=
c.233+108G=
n.790+632G=
c.473-3350G=
n.773+632G=
c.2226+632G= (n.2226+632G=)
n.421+632G=
c.414G= (p.Ser138=)
c.3537G= (p.Ser1179=)
c.3513G= (p.Ser1171=)
c.3483G= (p.Ser1161=)
c.3465G= (p.Ser1155=)
c.3411G= (p.Ser1137=)
c.3330G= (p.Ser1110=)
c.3273G= (p.Ser1091=)
c.1359G= (p.Ser453=)
c.537G= (p.Ser179=)
n.3552G=
c.3579G= (p.Ser1193=)
c.3507G= (p.Ser1169=)
c.3369G= (p.Ser1123=)
c.1455G= (p.Ser485=)
16g.2111708C>GCA493049937PKD1c.3459G>C (p.Ser1153=)
n.310+632G>C
n.430+632G>C
n.409G>C
c.233+108G>C
n.790+632G>C
c.473-3350G>C
n.773+632G>C
c.2226+632G>C (n.2226+632G>C)
n.421+632G>C
c.414G>C (p.Ser138=)
c.3537G>C (p.Ser1179=)
c.3513G>C (p.Ser1171=)
c.3483G>C (p.Ser1161=)
c.3465G>C (p.Ser1155=)
c.3411G>C (p.Ser1137=)
c.3330G>C (p.Ser1110=)
c.3273G>C (p.Ser1091=)
c.1359G>C (p.Ser453=)
c.537G>C (p.Ser179=)
n.3552G>C
c.3579G>C (p.Ser1193=)
c.3507G>C (p.Ser1169=)
c.3369G>C (p.Ser1123=)
c.1455G>C (p.Ser485=)
 dbSNP gnomAD v2 gnomAD v4
16g.2111708C>TCA7832762PKD1c.3459G>A (p.Ser1153=)
n.310+632G>A
n.430+632G>A
n.409G>A
c.233+108G>A
n.790+632G>A
c.473-3350G>A
n.773+632G>A
c.2226+632G>A (n.2226+632G>A)
n.421+632G>A
c.414G>A (p.Ser138=)
c.3537G>A (p.Ser1179=)
c.3513G>A (p.Ser1171=)
c.3483G>A (p.Ser1161=)
c.3465G>A (p.Ser1155=)
c.3411G>A (p.Ser1137=)
c.3330G>A (p.Ser1110=)
c.3273G>A (p.Ser1091=)
c.1359G>A (p.Ser453=)
c.537G>A (p.Ser179=)
n.3552G>A
c.3579G>A (p.Ser1193=)
c.3507G>A (p.Ser1169=)
c.3369G>A (p.Ser1123=)
c.1455G>A (p.Ser485=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111709G>ACA7832763PKD1c.3458C>T (p.Ser1153Leu)
n.310+631C>T
n.430+631C>T
n.408C>T
c.233+107C>T
n.790+631C>T
c.473-3351C>T
n.773+631C>T
c.2226+631C>T (n.2226+631C>T)
n.421+631C>T
c.413C>T (p.Ser138Leu)
c.3536C>T (p.Ser1179Leu)
c.3512C>T (p.Ser1171Leu)
c.3482C>T (p.Ser1161Leu)
c.3464C>T (p.Ser1155Leu)
c.3410C>T (p.Ser1137Leu)
c.3329C>T (p.Ser1110Leu)
c.3272C>T (p.Ser1091Leu)
c.1358C>T (p.Ser453Leu)
c.536C>T (p.Ser179Leu)
n.3551C>T
c.3578C>T (p.Ser1193Leu)
c.3506C>T (p.Ser1169Leu)
c.3368C>T (p.Ser1123Leu)
c.1454C>T (p.Ser485Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111709G>CCA394383061PKD1c.3458C>G (p.Ser1153Trp)
n.310+631C>G
n.430+631C>G
n.408C>G
c.233+107C>G
n.790+631C>G
c.473-3351C>G
n.773+631C>G
c.2226+631C>G (n.2226+631C>G)
n.421+631C>G
c.413C>G (p.Ser138Trp)
c.3536C>G (p.Ser1179Trp)
c.3512C>G (p.Ser1171Trp)
c.3482C>G (p.Ser1161Trp)
c.3464C>G (p.Ser1155Trp)
c.3410C>G (p.Ser1137Trp)
c.3329C>G (p.Ser1110Trp)
c.3272C>G (p.Ser1091Trp)
c.1358C>G (p.Ser453Trp)
c.536C>G (p.Ser179Trp)
n.3551C>G
c.3578C>G (p.Ser1193Trp)
c.3506C>G (p.Ser1169Trp)
c.3368C>G (p.Ser1123Trp)
c.1454C>G (p.Ser485Trp)
16g.2111709G=CA2202047784PKD1c.3458C= (p.Ser1153=)
n.310+631C=
n.430+631C=
n.408C=
c.233+107C=
n.790+631C=
c.473-3351C=
n.773+631C=
c.2226+631C= (n.2226+631C=)
n.421+631C=
c.413C= (p.Ser138=)
c.3536C= (p.Ser1179=)
c.3512C= (p.Ser1171=)
c.3482C= (p.Ser1161=)
c.3464C= (p.Ser1155=)
c.3410C= (p.Ser1137=)
c.3329C= (p.Ser1110=)
c.3272C= (p.Ser1091=)
c.1358C= (p.Ser453=)
c.536C= (p.Ser179=)
n.3551C=
c.3578C= (p.Ser1193=)
c.3506C= (p.Ser1169=)
c.3368C= (p.Ser1123=)
c.1454C= (p.Ser485=)
16g.2111709G>TCA394383060PKD1c.3458C>A (p.Ser1153Ter)
n.310+631C>A
n.430+631C>A
n.408C>A
c.233+107C>A
n.790+631C>A
c.473-3351C>A
n.773+631C>A
c.2226+631C>A (n.2226+631C>A)
n.421+631C>A
c.413C>A (p.Ser138Ter)
c.3536C>A (p.Ser1179Ter)
c.3512C>A (p.Ser1171Ter)
c.3482C>A (p.Ser1161Ter)
c.3464C>A (p.Ser1155Ter)
c.3410C>A (p.Ser1137Ter)
c.3329C>A (p.Ser1110Ter)
c.3272C>A (p.Ser1091Ter)
c.1358C>A (p.Ser453Ter)
c.536C>A (p.Ser179Ter)
n.3551C>A
c.3578C>A (p.Ser1193Ter)
c.3506C>A (p.Ser1169Ter)
c.3368C>A (p.Ser1123Ter)
c.1454C>A (p.Ser485Ter)
 gnomAD v4
16g.2111710A>CCA394383062PKD1c.3457T>G (p.Ser1153Ala)
n.310+630T>G
n.430+630T>G
n.407T>G
c.233+106T>G
n.790+630T>G
c.473-3352T>G
n.773+630T>G
c.2226+630T>G (n.2226+630T>G)
n.421+630T>G
c.412T>G (p.Ser138Ala)
c.3535T>G (p.Ser1179Ala)
c.3511T>G (p.Ser1171Ala)
c.3481T>G (p.Ser1161Ala)
c.3463T>G (p.Ser1155Ala)
c.3409T>G (p.Ser1137Ala)
c.3328T>G (p.Ser1110Ala)
c.3271T>G (p.Ser1091Ala)
c.1357T>G (p.Ser453Ala)
c.535T>G (p.Ser179Ala)
n.3550T>G
c.3577T>G (p.Ser1193Ala)
c.3505T>G (p.Ser1169Ala)
c.3367T>G (p.Ser1123Ala)
c.1453T>G (p.Ser485Ala)
16g.2111710A>GCA394383063PKD1c.3457T>C (p.Ser1153Pro)
n.310+630T>C
n.430+630T>C
n.407T>C
c.233+106T>C
n.790+630T>C
c.473-3352T>C
n.773+630T>C
c.2226+630T>C (n.2226+630T>C)
n.421+630T>C
c.412T>C (p.Ser138Pro)
c.3535T>C (p.Ser1179Pro)
c.3511T>C (p.Ser1171Pro)
c.3481T>C (p.Ser1161Pro)
c.3463T>C (p.Ser1155Pro)
c.3409T>C (p.Ser1137Pro)
c.3328T>C (p.Ser1110Pro)
c.3271T>C (p.Ser1091Pro)
c.1357T>C (p.Ser453Pro)
c.535T>C (p.Ser179Pro)
n.3550T>C
c.3577T>C (p.Ser1193Pro)
c.3505T>C (p.Ser1169Pro)
c.3367T>C (p.Ser1123Pro)
c.1453T>C (p.Ser485Pro)
16g.2111710A>TCA394383064PKD1c.3457T>A (p.Ser1153Thr)
n.310+630T>A
n.430+630T>A
n.407T>A
c.233+106T>A
n.790+630T>A
c.473-3352T>A
n.773+630T>A
c.2226+630T>A (n.2226+630T>A)
n.421+630T>A
c.412T>A (p.Ser138Thr)
c.3535T>A (p.Ser1179Thr)
c.3511T>A (p.Ser1171Thr)
c.3481T>A (p.Ser1161Thr)
c.3463T>A (p.Ser1155Thr)
c.3409T>A (p.Ser1137Thr)
c.3328T>A (p.Ser1110Thr)
c.3271T>A (p.Ser1091Thr)
c.1357T>A (p.Ser453Thr)
c.535T>A (p.Ser179Thr)
n.3550T>A
c.3577T>A (p.Ser1193Thr)
c.3505T>A (p.Ser1169Thr)
c.3367T>A (p.Ser1123Thr)
c.1453T>A (p.Ser485Thr)
16g.2111711G>ACA493049947PKD1c.3456C>T (p.Pro1152=)
n.310+629C>T
n.430+629C>T
n.406C>T
c.233+105C>T
n.790+629C>T
c.473-3353C>T
n.773+629C>T
c.2226+629C>T (n.2226+629C>T)
n.421+629C>T
c.411C>T (p.Pro137=)
c.3534C>T (p.Pro1178=)
c.3510C>T (p.Pro1170=)
c.3480C>T (p.Pro1160=)
c.3462C>T (p.Pro1154=)
c.3408C>T (p.Pro1136=)
c.3327C>T (p.Pro1109=)
c.3270C>T (p.Pro1090=)
c.1356C>T (p.Pro452=)
c.534C>T (p.Pro178=)
n.3549C>T
c.3576C>T (p.Pro1192=)
c.3504C>T (p.Pro1168=)
c.3366C>T (p.Pro1122=)
c.1452C>T (p.Pro484=)
 dbSNP gnomAD v3 gnomAD v4
16g.2111711G>CCA493049950PKD1c.3456C>G (p.Pro1152=)
n.310+629C>G
n.430+629C>G
n.406C>G
c.233+105C>G
n.790+629C>G
c.473-3353C>G
n.773+629C>G
c.2226+629C>G (n.2226+629C>G)
n.421+629C>G
c.411C>G (p.Pro137=)
c.3534C>G (p.Pro1178=)
c.3510C>G (p.Pro1170=)
c.3480C>G (p.Pro1160=)
c.3462C>G (p.Pro1154=)
c.3408C>G (p.Pro1136=)
c.3327C>G (p.Pro1109=)
c.3270C>G (p.Pro1090=)
c.1356C>G (p.Pro452=)
c.534C>G (p.Pro178=)
n.3549C>G
c.3576C>G (p.Pro1192=)
c.3504C>G (p.Pro1168=)
c.3366C>G (p.Pro1122=)
c.1452C>G (p.Pro484=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2111711G=CA2202047785PKD1c.3456C= (p.Pro1152=)
n.310+629C=
n.430+629C=
n.406C=
c.233+105C=
n.790+629C=
c.473-3353C=
n.773+629C=
c.2226+629C= (n.2226+629C=)
n.421+629C=
c.411C= (p.Pro137=)
c.3534C= (p.Pro1178=)
c.3510C= (p.Pro1170=)
c.3480C= (p.Pro1160=)
c.3462C= (p.Pro1154=)
c.3408C= (p.Pro1136=)
c.3327C= (p.Pro1109=)
c.3270C= (p.Pro1090=)
c.1356C= (p.Pro452=)
c.534C= (p.Pro178=)
n.3549C=
c.3576C= (p.Pro1192=)
c.3504C= (p.Pro1168=)
c.3366C= (p.Pro1122=)
c.1452C= (p.Pro484=)
16g.2111711G>TCA493049949PKD1c.3456C>A (p.Pro1152=)
n.310+629C>A
n.430+629C>A
n.406C>A
c.233+105C>A
n.790+629C>A
c.473-3353C>A
n.773+629C>A
c.2226+629C>A (n.2226+629C>A)
n.421+629C>A
c.411C>A (p.Pro137=)
c.3534C>A (p.Pro1178=)
c.3510C>A (p.Pro1170=)
c.3480C>A (p.Pro1160=)
c.3462C>A (p.Pro1154=)
c.3408C>A (p.Pro1136=)
c.3327C>A (p.Pro1109=)
c.3270C>A (p.Pro1090=)
c.1356C>A (p.Pro452=)
c.534C>A (p.Pro178=)
n.3549C>A
c.3576C>A (p.Pro1192=)
c.3504C>A (p.Pro1168=)
c.3366C>A (p.Pro1122=)
c.1452C>A (p.Pro484=)
 gnomAD v4
16g.2111712G>ACA394383065PKD1c.3455C>T (p.Pro1152Leu)
n.310+628C>T
n.430+628C>T
n.405C>T
c.233+104C>T
n.790+628C>T
c.473-3354C>T
n.773+628C>T
c.2226+628C>T (n.2226+628C>T)
n.421+628C>T
c.410C>T (p.Pro137Leu)
c.3533C>T (p.Pro1178Leu)
c.3509C>T (p.Pro1170Leu)
c.3479C>T (p.Pro1160Leu)
c.3461C>T (p.Pro1154Leu)
c.3407C>T (p.Pro1136Leu)
c.3326C>T (p.Pro1109Leu)
c.3269C>T (p.Pro1090Leu)
c.1355C>T (p.Pro452Leu)
c.533C>T (p.Pro178Leu)
n.3548C>T
c.3575C>T (p.Pro1192Leu)
c.3503C>T (p.Pro1168Leu)
c.3365C>T (p.Pro1122Leu)
c.1451C>T (p.Pro484Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.2111712G>CCA394383066PKD1c.3455C>G (p.Pro1152Arg)
n.310+628C>G
n.430+628C>G
n.405C>G
c.233+104C>G
n.790+628C>G
c.473-3354C>G
n.773+628C>G
c.2226+628C>G (n.2226+628C>G)
n.421+628C>G
c.410C>G (p.Pro137Arg)
c.3533C>G (p.Pro1178Arg)
c.3509C>G (p.Pro1170Arg)
c.3479C>G (p.Pro1160Arg)
c.3461C>G (p.Pro1154Arg)
c.3407C>G (p.Pro1136Arg)
c.3326C>G (p.Pro1109Arg)
c.3269C>G (p.Pro1090Arg)
c.1355C>G (p.Pro452Arg)
c.533C>G (p.Pro178Arg)
n.3548C>G
c.3575C>G (p.Pro1192Arg)
c.3503C>G (p.Pro1168Arg)
c.3365C>G (p.Pro1122Arg)
c.1451C>G (p.Pro484Arg)
 gnomAD v4
16g.2111712G=CA2202047786PKD1c.3455C= (p.Pro1152=)
n.310+628C=
n.430+628C=
n.405C=
c.233+104C=
n.790+628C=
c.473-3354C=
n.773+628C=
c.2226+628C= (n.2226+628C=)
n.421+628C=
c.410C= (p.Pro137=)
c.3533C= (p.Pro1178=)
c.3509C= (p.Pro1170=)
c.3479C= (p.Pro1160=)
c.3461C= (p.Pro1154=)
c.3407C= (p.Pro1136=)
c.3326C= (p.Pro1109=)
c.3269C= (p.Pro1090=)
c.1355C= (p.Pro452=)
c.533C= (p.Pro178=)
n.3548C=
c.3575C= (p.Pro1192=)
c.3503C= (p.Pro1168=)
c.3365C= (p.Pro1122=)
c.1451C= (p.Pro484=)
16g.2111712G>TCA394383067PKD1c.3455C>A (p.Pro1152His)
n.310+628C>A
n.430+628C>A
n.405C>A
c.233+104C>A
n.790+628C>A
c.473-3354C>A
n.773+628C>A
c.2226+628C>A (n.2226+628C>A)
n.421+628C>A
c.410C>A (p.Pro137His)
c.3533C>A (p.Pro1178His)
c.3509C>A (p.Pro1170His)
c.3479C>A (p.Pro1160His)
c.3461C>A (p.Pro1154His)
c.3407C>A (p.Pro1136His)
c.3326C>A (p.Pro1109His)
c.3269C>A (p.Pro1090His)
c.1355C>A (p.Pro452His)
c.533C>A (p.Pro178His)
n.3548C>A
c.3575C>A (p.Pro1192His)
c.3503C>A (p.Pro1168His)
c.3365C>A (p.Pro1122His)
c.1451C>A (p.Pro484His)
 gnomAD v4
16g.2111713G>ACA394383068PKD1c.3454C>T (p.Pro1152Ser)
n.310+627C>T
n.430+627C>T
n.404C>T
c.233+103C>T
n.790+627C>T
c.473-3355C>T
n.773+627C>T
c.2226+627C>T (n.2226+627C>T)
n.421+627C>T
c.409C>T (p.Pro137Ser)
c.3532C>T (p.Pro1178Ser)
c.3508C>T (p.Pro1170Ser)
c.3478C>T (p.Pro1160Ser)
c.3460C>T (p.Pro1154Ser)
c.3406C>T (p.Pro1136Ser)
c.3325C>T (p.Pro1109Ser)
c.3268C>T (p.Pro1090Ser)
c.1354C>T (p.Pro452Ser)
c.532C>T (p.Pro178Ser)
n.3547C>T
c.3574C>T (p.Pro1192Ser)
c.3502C>T (p.Pro1168Ser)
c.3364C>T (p.Pro1122Ser)
c.1450C>T (p.Pro484Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.2111713G>CCA394383069PKD1c.3454C>G (p.Pro1152Ala)
n.310+627C>G
n.430+627C>G
n.404C>G
c.233+103C>G
n.790+627C>G
c.473-3355C>G
n.773+627C>G
c.2226+627C>G (n.2226+627C>G)
n.421+627C>G
c.409C>G (p.Pro137Ala)
c.3532C>G (p.Pro1178Ala)
c.3508C>G (p.Pro1170Ala)
c.3478C>G (p.Pro1160Ala)
c.3460C>G (p.Pro1154Ala)
c.3406C>G (p.Pro1136Ala)
c.3325C>G (p.Pro1109Ala)
c.3268C>G (p.Pro1090Ala)
c.1354C>G (p.Pro452Ala)
c.532C>G (p.Pro178Ala)
n.3547C>G
c.3574C>G (p.Pro1192Ala)
c.3502C>G (p.Pro1168Ala)
c.3364C>G (p.Pro1122Ala)
c.1450C>G (p.Pro484Ala)
16g.2111713G=CA2202047787PKD1c.3454C= (p.Pro1152=)
n.310+627C=
n.430+627C=
n.404C=
c.233+103C=
n.790+627C=
c.473-3355C=
n.773+627C=
c.2226+627C= (n.2226+627C=)
n.421+627C=
c.409C= (p.Pro137=)
c.3532C= (p.Pro1178=)
c.3508C= (p.Pro1170=)
c.3478C= (p.Pro1160=)
c.3460C= (p.Pro1154=)
c.3406C= (p.Pro1136=)
c.3325C= (p.Pro1109=)
c.3268C= (p.Pro1090=)
c.1354C= (p.Pro452=)
c.532C= (p.Pro178=)
n.3547C=
c.3574C= (p.Pro1192=)
c.3502C= (p.Pro1168=)
c.3364C= (p.Pro1122=)
c.1450C= (p.Pro484=)
16g.2111713G>TCA394383070PKD1c.3454C>A (p.Pro1152Thr)
n.310+627C>A
n.430+627C>A
n.404C>A
c.233+103C>A
n.790+627C>A
c.473-3355C>A
n.773+627C>A
c.2226+627C>A (n.2226+627C>A)
n.421+627C>A
c.409C>A (p.Pro137Thr)
c.3532C>A (p.Pro1178Thr)
c.3508C>A (p.Pro1170Thr)
c.3478C>A (p.Pro1160Thr)
c.3460C>A (p.Pro1154Thr)
c.3406C>A (p.Pro1136Thr)
c.3325C>A (p.Pro1109Thr)
c.3268C>A (p.Pro1090Thr)
c.1354C>A (p.Pro452Thr)
c.532C>A (p.Pro178Thr)
n.3547C>A
c.3574C>A (p.Pro1192Thr)
c.3502C>A (p.Pro1168Thr)
c.3364C>A (p.Pro1122Thr)
c.1450C>A (p.Pro484Thr)
 gnomAD v4
16g.2111714C>ACA493049960PKD1c.3453G>T (p.Leu1151=)
n.310+626G>T
n.430+626G>T
n.403G>T
c.233+102G>T
n.790+626G>T
c.473-3356G>T
n.773+626G>T
c.2226+626G>T (n.2226+626G>T)
n.421+626G>T
c.408G>T (p.Leu136=)
c.3531G>T (p.Leu1177=)
c.3507G>T (p.Leu1169=)
c.3477G>T (p.Leu1159=)
c.3459G>T (p.Leu1153=)
c.3405G>T (p.Leu1135=)
c.3324G>T (p.Leu1108=)
c.3267G>T (p.Leu1089=)
c.1353G>T (p.Leu451=)
c.531G>T (p.Leu177=)
n.3546G>T
c.3573G>T (p.Leu1191=)
c.3501G>T (p.Leu1167=)
c.3363G>T (p.Leu1121=)
c.1449G>T (p.Leu483=)
 gnomAD v4
16g.2111714C>GCA493049961PKD1c.3453G>C (p.Leu1151=)
n.310+626G>C
n.430+626G>C
n.403G>C
c.233+102G>C
n.790+626G>C
c.473-3356G>C
n.773+626G>C
c.2226+626G>C (n.2226+626G>C)
n.421+626G>C
c.408G>C (p.Leu136=)
c.3531G>C (p.Leu1177=)
c.3507G>C (p.Leu1169=)
c.3477G>C (p.Leu1159=)
c.3459G>C (p.Leu1153=)
c.3405G>C (p.Leu1135=)
c.3324G>C (p.Leu1108=)
c.3267G>C (p.Leu1089=)
c.1353G>C (p.Leu451=)
c.531G>C (p.Leu177=)
n.3546G>C
c.3573G>C (p.Leu1191=)
c.3501G>C (p.Leu1167=)
c.3363G>C (p.Leu1121=)
c.1449G>C (p.Leu483=)
16g.2111714C>TCA493049964PKD1c.3453G>A (p.Leu1151=)
n.310+626G>A
n.430+626G>A
n.403G>A
c.233+102G>A
n.790+626G>A
c.473-3356G>A
n.773+626G>A
c.2226+626G>A (n.2226+626G>A)
n.421+626G>A
c.408G>A (p.Leu136=)
c.3531G>A (p.Leu1177=)
c.3507G>A (p.Leu1169=)
c.3477G>A (p.Leu1159=)
c.3459G>A (p.Leu1153=)
c.3405G>A (p.Leu1135=)
c.3324G>A (p.Leu1108=)
c.3267G>A (p.Leu1089=)
c.1353G>A (p.Leu451=)
c.531G>A (p.Leu177=)
n.3546G>A
c.3573G>A (p.Leu1191=)
c.3501G>A (p.Leu1167=)
c.3363G>A (p.Leu1121=)
c.1449G>A (p.Leu483=)
16g.2111715A>CCA394383071PKD1c.3452T>G (p.Leu1151Arg)
n.310+625T>G
n.430+625T>G
n.402T>G
c.233+101T>G
n.790+625T>G
c.473-3357T>G
n.773+625T>G
c.2226+625T>G (n.2226+625T>G)
n.421+625T>G
c.407T>G (p.Leu136Arg)
c.3530T>G (p.Leu1177Arg)
c.3506T>G (p.Leu1169Arg)
c.3476T>G (p.Leu1159Arg)
c.3458T>G (p.Leu1153Arg)
c.3404T>G (p.Leu1135Arg)
c.3323T>G (p.Leu1108Arg)
c.3266T>G (p.Leu1089Arg)
c.1352T>G (p.Leu451Arg)
c.530T>G (p.Leu177Arg)
n.3545T>G
c.3572T>G (p.Leu1191Arg)
c.3500T>G (p.Leu1167Arg)
c.3362T>G (p.Leu1121Arg)
c.1448T>G (p.Leu483Arg)
16g.2111715A>GCA394383072PKD1c.3452T>C (p.Leu1151Pro)
n.310+625T>C
n.430+625T>C
n.402T>C
c.233+101T>C
n.790+625T>C
c.473-3357T>C
n.773+625T>C
c.2226+625T>C (n.2226+625T>C)
n.421+625T>C
c.407T>C (p.Leu136Pro)
c.3530T>C (p.Leu1177Pro)
c.3506T>C (p.Leu1169Pro)
c.3476T>C (p.Leu1159Pro)
c.3458T>C (p.Leu1153Pro)
c.3404T>C (p.Leu1135Pro)
c.3323T>C (p.Leu1108Pro)
c.3266T>C (p.Leu1089Pro)
c.1352T>C (p.Leu451Pro)
c.530T>C (p.Leu177Pro)
n.3545T>C
c.3572T>C (p.Leu1191Pro)
c.3500T>C (p.Leu1167Pro)
c.3362T>C (p.Leu1121Pro)
c.1448T>C (p.Leu483Pro)
16g.2111715A>TCA394383073PKD1c.3452T>A (p.Leu1151Gln)
n.310+625T>A
n.430+625T>A
n.402T>A
c.233+101T>A
n.790+625T>A
c.473-3357T>A
n.773+625T>A
c.2226+625T>A (n.2226+625T>A)
n.421+625T>A
c.407T>A (p.Leu136Gln)
c.3530T>A (p.Leu1177Gln)
c.3506T>A (p.Leu1169Gln)
c.3476T>A (p.Leu1159Gln)
c.3458T>A (p.Leu1153Gln)
c.3404T>A (p.Leu1135Gln)
c.3323T>A (p.Leu1108Gln)
c.3266T>A (p.Leu1089Gln)
c.1352T>A (p.Leu451Gln)
c.530T>A (p.Leu177Gln)
n.3545T>A
c.3572T>A (p.Leu1191Gln)
c.3500T>A (p.Leu1167Gln)
c.3362T>A (p.Leu1121Gln)
c.1448T>A (p.Leu483Gln)
16g.2111716G>ACA493049970PKD1c.3451C>T (p.Leu1151=)
n.310+624C>T
n.430+624C>T
n.401C>T
c.233+100C>T
n.790+624C>T
c.473-3358C>T
n.773+624C>T
c.2226+624C>T (n.2226+624C>T)
n.421+624C>T
c.406C>T (p.Leu136=)
c.3529C>T (p.Leu1177=)
c.3505C>T (p.Leu1169=)
c.3475C>T (p.Leu1159=)
c.3457C>T (p.Leu1153=)
c.3403C>T (p.Leu1135=)
c.3322C>T (p.Leu1108=)
c.3265C>T (p.Leu1089=)
c.1351C>T (p.Leu451=)
c.529C>T (p.Leu177=)
n.3544C>T
c.3571C>T (p.Leu1191=)
c.3499C>T (p.Leu1167=)
c.3361C>T (p.Leu1121=)
c.1447C>T (p.Leu483=)
 gnomAD v4
16g.2111716G>CCA394383075PKD1c.3451C>G (p.Leu1151Val)
n.310+624C>G
n.430+624C>G
n.401C>G
c.233+100C>G
n.790+624C>G
c.473-3358C>G
n.773+624C>G
c.2226+624C>G (n.2226+624C>G)
n.421+624C>G
c.406C>G (p.Leu136Val)
c.3529C>G (p.Leu1177Val)
c.3505C>G (p.Leu1169Val)
c.3475C>G (p.Leu1159Val)
c.3457C>G (p.Leu1153Val)
c.3403C>G (p.Leu1135Val)
c.3322C>G (p.Leu1108Val)
c.3265C>G (p.Leu1089Val)
c.1351C>G (p.Leu451Val)
c.529C>G (p.Leu177Val)
n.3544C>G
c.3571C>G (p.Leu1191Val)
c.3499C>G (p.Leu1167Val)
c.3361C>G (p.Leu1121Val)
c.1447C>G (p.Leu483Val)
 gnomAD v4
16g.2111716G>TCA394383074PKD1c.3451C>A (p.Leu1151Met)
n.310+624C>A
n.430+624C>A
n.401C>A
c.233+100C>A
n.790+624C>A
c.473-3358C>A
n.773+624C>A
c.2226+624C>A (n.2226+624C>A)
n.421+624C>A
c.406C>A (p.Leu136Met)
c.3529C>A (p.Leu1177Met)
c.3505C>A (p.Leu1169Met)
c.3475C>A (p.Leu1159Met)
c.3457C>A (p.Leu1153Met)
c.3403C>A (p.Leu1135Met)
c.3322C>A (p.Leu1108Met)
c.3265C>A (p.Leu1089Met)
c.1351C>A (p.Leu451Met)
c.529C>A (p.Leu177Met)
n.3544C>A
c.3571C>A (p.Leu1191Met)
c.3499C>A (p.Leu1167Met)
c.3361C>A (p.Leu1121Met)
c.1447C>A (p.Leu483Met)
 gnomAD v4
16g.2111717delCA2631132169PKD1c.3450del (p.Leu1151CysfsTer20)
n.310+623del
n.430+623del
n.400del
c.233+99del
n.790+623del
c.473-3359del
n.773+623del
c.2226+623del (n.2226+623del)
n.421+623del
c.405del (p.Leu136CysfsTer20)
c.3528del (p.Leu1177CysfsTer20)
c.3504del (p.Leu1169CysfsTer20)
c.3474del (p.Leu1159CysfsTer20)
c.3456del (p.Leu1153CysfsTer20)
c.3402del (p.Leu1135CysfsTer20)
c.3321del (p.Leu1108CysfsTer20)
c.3264del (p.Leu1089CysfsTer20)
c.1350del (p.Leu451CysfsTer20)
c.528del (p.Leu177CysfsTer20)
n.3543del
c.3570del (p.Leu1191CysfsTer20)
c.3498del (p.Leu1167CysfsTer20)
c.3360del (p.Leu1121CysfsTer20)
c.1446del (p.Leu483CysfsTer20)
 gnomAD v4
16g.2111717C>ACA493049973PKD1c.3450G>T (p.Pro1150=)
n.310+623G>T
n.430+623G>T
n.400G>T
c.233+99G>T
n.790+623G>T
c.473-3359G>T
n.773+623G>T
c.2226+623G>T (n.2226+623G>T)
n.421+623G>T
c.405G>T (p.Pro135=)
c.3528G>T (p.Pro1176=)
c.3504G>T (p.Pro1168=)
c.3474G>T (p.Pro1158=)
c.3456G>T (p.Pro1152=)
c.3402G>T (p.Pro1134=)
c.3321G>T (p.Pro1107=)
c.3264G>T (p.Pro1088=)
c.1350G>T (p.Pro450=)
c.528G>T (p.Pro176=)
n.3543G>T
c.3570G>T (p.Pro1190=)
c.3498G>T (p.Pro1166=)
c.3360G>T (p.Pro1120=)
c.1446G>T (p.Pro482=)
 gnomAD v4
16g.2111717C=CA2202047788PKD1c.3450G= (p.Pro1150=)
n.310+623G=
n.430+623G=
n.400G=
c.233+99G=
n.790+623G=
c.473-3359G=
n.773+623G=
c.2226+623G= (n.2226+623G=)
n.421+623G=
c.405G= (p.Pro135=)
c.3528G= (p.Pro1176=)
c.3504G= (p.Pro1168=)
c.3474G= (p.Pro1158=)
c.3456G= (p.Pro1152=)
c.3402G= (p.Pro1134=)
c.3321G= (p.Pro1107=)
c.3264G= (p.Pro1088=)
c.1350G= (p.Pro450=)
c.528G= (p.Pro176=)
n.3543G=
c.3570G= (p.Pro1190=)
c.3498G= (p.Pro1166=)
c.3360G= (p.Pro1120=)
c.1446G= (p.Pro482=)
16g.2111717C>GCA493049975PKD1c.3450G>C (p.Pro1150=)
n.310+623G>C
n.430+623G>C
n.400G>C
c.233+99G>C
n.790+623G>C
c.473-3359G>C
n.773+623G>C
c.2226+623G>C (n.2226+623G>C)
n.421+623G>C
c.405G>C (p.Pro135=)
c.3528G>C (p.Pro1176=)
c.3504G>C (p.Pro1168=)
c.3474G>C (p.Pro1158=)
c.3456G>C (p.Pro1152=)
c.3402G>C (p.Pro1134=)
c.3321G>C (p.Pro1107=)
c.3264G>C (p.Pro1088=)
c.1350G>C (p.Pro450=)
c.528G>C (p.Pro176=)
n.3543G>C
c.3570G>C (p.Pro1190=)
c.3498G>C (p.Pro1166=)
c.3360G>C (p.Pro1120=)
c.1446G>C (p.Pro482=)
16g.2111717C>TCA493049976PKD1c.3450G>A (p.Pro1150=)
n.310+623G>A
n.430+623G>A
n.400G>A
c.233+99G>A
n.790+623G>A
c.473-3359G>A
n.773+623G>A
c.2226+623G>A (n.2226+623G>A)
n.421+623G>A
c.405G>A (p.Pro135=)
c.3528G>A (p.Pro1176=)
c.3504G>A (p.Pro1168=)
c.3474G>A (p.Pro1158=)
c.3456G>A (p.Pro1152=)
c.3402G>A (p.Pro1134=)
c.3321G>A (p.Pro1107=)
c.3264G>A (p.Pro1088=)
c.1350G>A (p.Pro450=)
c.528G>A (p.Pro176=)
n.3543G>A
c.3570G>A (p.Pro1190=)
c.3498G>A (p.Pro1166=)
c.3360G>A (p.Pro1120=)
c.1446G>A (p.Pro482=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111718G>ACA7832764PKD1c.3449C>T (p.Pro1150Leu)
n.310+622C>T
n.430+622C>T
n.399C>T
c.233+98C>T
n.790+622C>T
c.473-3360C>T
n.773+622C>T
c.2226+622C>T (n.2226+622C>T)
n.421+622C>T
c.404C>T (p.Pro135Leu)
c.3527C>T (p.Pro1176Leu)
c.3503C>T (p.Pro1168Leu)
c.3473C>T (p.Pro1158Leu)
c.3455C>T (p.Pro1152Leu)
c.3401C>T (p.Pro1134Leu)
c.3320C>T (p.Pro1107Leu)
c.3263C>T (p.Pro1088Leu)
c.1349C>T (p.Pro450Leu)
c.527C>T (p.Pro176Leu)
n.3542C>T
c.3569C>T (p.Pro1190Leu)
c.3497C>T (p.Pro1166Leu)
c.3359C>T (p.Pro1120Leu)
c.1445C>T (p.Pro482Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111718G>CCA394383077PKD1c.3449C>G (p.Pro1150Arg)
n.310+622C>G
n.430+622C>G
n.399C>G
c.233+98C>G
n.790+622C>G
c.473-3360C>G
n.773+622C>G
c.2226+622C>G (n.2226+622C>G)
n.421+622C>G
c.404C>G (p.Pro135Arg)
c.3527C>G (p.Pro1176Arg)
c.3503C>G (p.Pro1168Arg)
c.3473C>G (p.Pro1158Arg)
c.3455C>G (p.Pro1152Arg)
c.3401C>G (p.Pro1134Arg)
c.3320C>G (p.Pro1107Arg)
c.3263C>G (p.Pro1088Arg)
c.1349C>G (p.Pro450Arg)
c.527C>G (p.Pro176Arg)
n.3542C>G
c.3569C>G (p.Pro1190Arg)
c.3497C>G (p.Pro1166Arg)
c.3359C>G (p.Pro1120Arg)
c.1445C>G (p.Pro482Arg)
 gnomAD v4
16g.2111718G=CA2202047789PKD1c.3449C= (p.Pro1150=)
n.310+622C=
n.430+622C=
n.399C=
c.233+98C=
n.790+622C=
c.473-3360C=
n.773+622C=
c.2226+622C= (n.2226+622C=)
n.421+622C=
c.404C= (p.Pro135=)
c.3527C= (p.Pro1176=)
c.3503C= (p.Pro1168=)
c.3473C= (p.Pro1158=)
c.3455C= (p.Pro1152=)
c.3401C= (p.Pro1134=)
c.3320C= (p.Pro1107=)
c.3263C= (p.Pro1088=)
c.1349C= (p.Pro450=)
c.527C= (p.Pro176=)
n.3542C=
c.3569C= (p.Pro1190=)
c.3497C= (p.Pro1166=)
c.3359C= (p.Pro1120=)
c.1445C= (p.Pro482=)
16g.2111718G>TCA394383076PKD1c.3449C>A (p.Pro1150Gln)
n.310+622C>A
n.430+622C>A
n.399C>A
c.233+98C>A
n.790+622C>A
c.473-3360C>A
n.773+622C>A
c.2226+622C>A (n.2226+622C>A)
n.421+622C>A
c.404C>A (p.Pro135Gln)
c.3527C>A (p.Pro1176Gln)
c.3503C>A (p.Pro1168Gln)
c.3473C>A (p.Pro1158Gln)
c.3455C>A (p.Pro1152Gln)
c.3401C>A (p.Pro1134Gln)
c.3320C>A (p.Pro1107Gln)
c.3263C>A (p.Pro1088Gln)
c.1349C>A (p.Pro450Gln)
c.527C>A (p.Pro176Gln)
n.3542C>A
c.3569C>A (p.Pro1190Gln)
c.3497C>A (p.Pro1166Gln)
c.3359C>A (p.Pro1120Gln)
c.1445C>A (p.Pro482Gln)
 gnomAD v4
16g.2111719G>ACA7832765PKD1c.3448C>T (p.Pro1150Ser)
n.310+621C>T
n.430+621C>T
n.398C>T
c.233+97C>T
n.790+621C>T
c.473-3361C>T
n.773+621C>T
c.2226+621C>T (n.2226+621C>T)
n.421+621C>T
c.403C>T (p.Pro135Ser)
c.3526C>T (p.Pro1176Ser)
c.3502C>T (p.Pro1168Ser)
c.3472C>T (p.Pro1158Ser)
c.3454C>T (p.Pro1152Ser)
c.3400C>T (p.Pro1134Ser)
c.3319C>T (p.Pro1107Ser)
c.3262C>T (p.Pro1088Ser)
c.1348C>T (p.Pro450Ser)
c.526C>T (p.Pro176Ser)
n.3541C>T
c.3568C>T (p.Pro1190Ser)
c.3496C>T (p.Pro1166Ser)
c.3358C>T (p.Pro1120Ser)
c.1444C>T (p.Pro482Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111719G>CCA394383078PKD1c.3448C>G (p.Pro1150Ala)
n.310+621C>G
n.430+621C>G
n.398C>G
c.233+97C>G
n.790+621C>G
c.473-3361C>G
n.773+621C>G
c.2226+621C>G (n.2226+621C>G)
n.421+621C>G
c.403C>G (p.Pro135Ala)
c.3526C>G (p.Pro1176Ala)
c.3502C>G (p.Pro1168Ala)
c.3472C>G (p.Pro1158Ala)
c.3454C>G (p.Pro1152Ala)
c.3400C>G (p.Pro1134Ala)
c.3319C>G (p.Pro1107Ala)
c.3262C>G (p.Pro1088Ala)
c.1348C>G (p.Pro450Ala)
c.526C>G (p.Pro176Ala)
n.3541C>G
c.3568C>G (p.Pro1190Ala)
c.3496C>G (p.Pro1166Ala)
c.3358C>G (p.Pro1120Ala)
c.1444C>G (p.Pro482Ala)
16g.2111719G=CA2202047790PKD1c.3448C= (p.Pro1150=)
n.310+621C=
n.430+621C=
n.398C=
c.233+97C=
n.790+621C=
c.473-3361C=
n.773+621C=
c.2226+621C= (n.2226+621C=)
n.421+621C=
c.403C= (p.Pro135=)
c.3526C= (p.Pro1176=)
c.3502C= (p.Pro1168=)
c.3472C= (p.Pro1158=)
c.3454C= (p.Pro1152=)
c.3400C= (p.Pro1134=)
c.3319C= (p.Pro1107=)
c.3262C= (p.Pro1088=)
c.1348C= (p.Pro450=)
c.526C= (p.Pro176=)
n.3541C=
c.3568C= (p.Pro1190=)
c.3496C= (p.Pro1166=)
c.3358C= (p.Pro1120=)
c.1444C= (p.Pro482=)
16g.2111719G>TCA276781909PKD1c.3448C>A (p.Pro1150Thr)
n.310+621C>A
n.430+621C>A
n.398C>A
c.233+97C>A
n.790+621C>A
c.473-3361C>A
n.773+621C>A
c.2226+621C>A (n.2226+621C>A)
n.421+621C>A
c.403C>A (p.Pro135Thr)
c.3526C>A (p.Pro1176Thr)
c.3502C>A (p.Pro1168Thr)
c.3472C>A (p.Pro1158Thr)
c.3454C>A (p.Pro1152Thr)
c.3400C>A (p.Pro1134Thr)
c.3319C>A (p.Pro1107Thr)
c.3262C>A (p.Pro1088Thr)
c.1348C>A (p.Pro450Thr)
c.526C>A (p.Pro176Thr)
n.3541C>A
c.3568C>A (p.Pro1190Thr)
c.3496C>A (p.Pro1166Thr)
c.3358C>A (p.Pro1120Thr)
c.1444C>A (p.Pro482Thr)
 dbSNP gnomAD v4
16g.2111720G>ACA493049981PKD1c.3447C>T (p.His1149=)
n.310+620C>T
n.430+620C>T
n.397C>T
c.233+96C>T
n.790+620C>T
c.473-3362C>T
n.773+620C>T
c.2226+620C>T (n.2226+620C>T)
n.421+620C>T
c.402C>T (p.His134=)
c.3525C>T (p.His1175=)
c.3501C>T (p.His1167=)
c.3471C>T (p.His1157=)
c.3453C>T (p.His1151=)
c.3399C>T (p.His1133=)
c.3318C>T (p.His1106=)
c.3261C>T (p.His1087=)
c.1347C>T (p.His449=)
c.525C>T (p.His175=)
n.3540C>T
c.3567C>T (p.His1189=)
c.3495C>T (p.His1165=)
c.3357C>T (p.His1119=)
c.1443C>T (p.His481=)
16g.2111720G>CCA394383079PKD1c.3447C>G (p.His1149Gln)
n.310+620C>G
n.430+620C>G
n.397C>G
c.233+96C>G
n.790+620C>G
c.473-3362C>G
n.773+620C>G
c.2226+620C>G (n.2226+620C>G)
n.421+620C>G
c.402C>G (p.His134Gln)
c.3525C>G (p.His1175Gln)
c.3501C>G (p.His1167Gln)
c.3471C>G (p.His1157Gln)
c.3453C>G (p.His1151Gln)
c.3399C>G (p.His1133Gln)
c.3318C>G (p.His1106Gln)
c.3261C>G (p.His1087Gln)
c.1347C>G (p.His449Gln)
c.525C>G (p.His175Gln)
n.3540C>G
c.3567C>G (p.His1189Gln)
c.3495C>G (p.His1165Gln)
c.3357C>G (p.His1119Gln)
c.1443C>G (p.His481Gln)
 dbSNP gnomAD v2 gnomAD v4
16g.2111720G=CA2202047791PKD1c.3447C= (p.His1149=)
n.310+620C=
n.430+620C=
n.397C=
c.233+96C=
n.790+620C=
c.473-3362C=
n.773+620C=
c.2226+620C= (n.2226+620C=)
n.421+620C=
c.402C= (p.His134=)
c.3525C= (p.His1175=)
c.3501C= (p.His1167=)
c.3471C= (p.His1157=)
c.3453C= (p.His1151=)
c.3399C= (p.His1133=)
c.3318C= (p.His1106=)
c.3261C= (p.His1087=)
c.1347C= (p.His449=)
c.525C= (p.His175=)
n.3540C=
c.3567C= (p.His1189=)
c.3495C= (p.His1165=)
c.3357C= (p.His1119=)
c.1443C= (p.His481=)
16g.2111720G>TCA394383080PKD1c.3447C>A (p.His1149Gln)
n.310+620C>A
n.430+620C>A
n.397C>A
c.233+96C>A
n.790+620C>A
c.473-3362C>A
n.773+620C>A
c.2226+620C>A (n.2226+620C>A)
n.421+620C>A
c.402C>A (p.His134Gln)
c.3525C>A (p.His1175Gln)
c.3501C>A (p.His1167Gln)
c.3471C>A (p.His1157Gln)
c.3453C>A (p.His1151Gln)
c.3399C>A (p.His1133Gln)
c.3318C>A (p.His1106Gln)
c.3261C>A (p.His1087Gln)
c.1347C>A (p.His449Gln)
c.525C>A (p.His175Gln)
n.3540C>A
c.3567C>A (p.His1189Gln)
c.3495C>A (p.His1165Gln)
c.3357C>A (p.His1119Gln)
c.1443C>A (p.His481Gln)
 gnomAD v4
16g.2111721T>ACA394383081PKD1c.3446A>T (p.His1149Leu)
n.310+619A>T
n.430+619A>T
n.396A>T
c.233+95A>T
n.790+619A>T
c.473-3363A>T
n.773+619A>T
c.2226+619A>T (n.2226+619A>T)
n.421+619A>T
c.401A>T (p.His134Leu)
c.3524A>T (p.His1175Leu)
c.3500A>T (p.His1167Leu)
c.3470A>T (p.His1157Leu)
c.3452A>T (p.His1151Leu)
c.3398A>T (p.His1133Leu)
c.3317A>T (p.His1106Leu)
c.3260A>T (p.His1087Leu)
c.1346A>T (p.His449Leu)
c.524A>T (p.His175Leu)
n.3539A>T
c.3566A>T (p.His1189Leu)
c.3494A>T (p.His1165Leu)
c.3356A>T (p.His1119Leu)
c.1442A>T (p.His481Leu)
 gnomAD v4
16g.2111721T>CCA7832766PKD1c.3446A>G (p.His1149Arg)
n.310+619A>G
n.430+619A>G
n.396A>G
c.233+95A>G
n.790+619A>G
c.473-3363A>G
n.773+619A>G
c.2226+619A>G (n.2226+619A>G)
n.421+619A>G
c.401A>G (p.His134Arg)
c.3524A>G (p.His1175Arg)
c.3500A>G (p.His1167Arg)
c.3470A>G (p.His1157Arg)
c.3452A>G (p.His1151Arg)
c.3398A>G (p.His1133Arg)
c.3317A>G (p.His1106Arg)
c.3260A>G (p.His1087Arg)
c.1346A>G (p.His449Arg)
c.524A>G (p.His175Arg)
n.3539A>G
c.3566A>G (p.His1189Arg)
c.3494A>G (p.His1165Arg)
c.3356A>G (p.His1119Arg)
c.1442A>G (p.His481Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111721T>GCA394383082PKD1c.3446A>C (p.His1149Pro)
n.310+619A>C
n.430+619A>C
n.396A>C
c.233+95A>C
n.790+619A>C
c.473-3363A>C
n.773+619A>C
c.2226+619A>C (n.2226+619A>C)
n.421+619A>C
c.401A>C (p.His134Pro)
c.3524A>C (p.His1175Pro)
c.3500A>C (p.His1167Pro)
c.3470A>C (p.His1157Pro)
c.3452A>C (p.His1151Pro)
c.3398A>C (p.His1133Pro)
c.3317A>C (p.His1106Pro)
c.3260A>C (p.His1087Pro)
c.1346A>C (p.His449Pro)
c.524A>C (p.His175Pro)
n.3539A>C
c.3566A>C (p.His1189Pro)
c.3494A>C (p.His1165Pro)
c.3356A>C (p.His1119Pro)
c.1442A>C (p.His481Pro)
16g.2111721T=CA2202047792PKD1c.3446A= (p.His1149=)
n.310+619A=
n.430+619A=
n.396A=
c.233+95A=
n.790+619A=
c.473-3363A=
n.773+619A=
c.2226+619A= (n.2226+619A=)
n.421+619A=
c.401A= (p.His134=)
c.3524A= (p.His1175=)
c.3500A= (p.His1167=)
c.3470A= (p.His1157=)
c.3452A= (p.His1151=)
c.3398A= (p.His1133=)
c.3317A= (p.His1106=)
c.3260A= (p.His1087=)
c.1346A= (p.His449=)
c.524A= (p.His175=)
n.3539A=
c.3566A= (p.His1189=)
c.3494A= (p.His1165=)
c.3356A= (p.His1119=)
c.1442A= (p.His481=)
16g.2111722G>ACA394383083PKD1c.3445C>T (p.His1149Tyr)
n.310+618C>T
n.430+618C>T
n.395C>T
c.233+94C>T
n.790+618C>T
c.473-3364C>T
n.773+618C>T
c.2226+618C>T (n.2226+618C>T)
n.421+618C>T
c.400C>T (p.His134Tyr)
c.3523C>T (p.His1175Tyr)
c.3499C>T (p.His1167Tyr)
c.3469C>T (p.His1157Tyr)
c.3451C>T (p.His1151Tyr)
c.3397C>T (p.His1133Tyr)
c.3316C>T (p.His1106Tyr)
c.3259C>T (p.His1087Tyr)
c.1345C>T (p.His449Tyr)
c.523C>T (p.His175Tyr)
n.3538C>T
c.3565C>T (p.His1189Tyr)
c.3493C>T (p.His1165Tyr)
c.3355C>T (p.His1119Tyr)
c.1441C>T (p.His481Tyr)
 dbSNP gnomAD v2 gnomAD v4
16g.2111722G>CCA394383084PKD1c.3445C>G (p.His1149Asp)
n.310+618C>G
n.430+618C>G
n.395C>G
c.233+94C>G
n.790+618C>G
c.473-3364C>G
n.773+618C>G
c.2226+618C>G (n.2226+618C>G)
n.421+618C>G
c.400C>G (p.His134Asp)
c.3523C>G (p.His1175Asp)
c.3499C>G (p.His1167Asp)
c.3469C>G (p.His1157Asp)
c.3451C>G (p.His1151Asp)
c.3397C>G (p.His1133Asp)
c.3316C>G (p.His1106Asp)
c.3259C>G (p.His1087Asp)
c.1345C>G (p.His449Asp)
c.523C>G (p.His175Asp)
n.3538C>G
c.3565C>G (p.His1189Asp)
c.3493C>G (p.His1165Asp)
c.3355C>G (p.His1119Asp)
c.1441C>G (p.His481Asp)
16g.2111722G=CA2202047793PKD1c.3445C= (p.His1149=)
n.310+618C=
n.430+618C=
n.395C=
c.233+94C=
n.790+618C=
c.473-3364C=
n.773+618C=
c.2226+618C= (n.2226+618C=)
n.421+618C=
c.400C= (p.His134=)
c.3523C= (p.His1175=)
c.3499C= (p.His1167=)
c.3469C= (p.His1157=)
c.3451C= (p.His1151=)
c.3397C= (p.His1133=)
c.3316C= (p.His1106=)
c.3259C= (p.His1087=)
c.1345C= (p.His449=)
c.523C= (p.His175=)
n.3538C=
c.3565C= (p.His1189=)
c.3493C= (p.His1165=)
c.3355C= (p.His1119=)
c.1441C= (p.His481=)
16g.2111722G>TCA394383085PKD1c.3445C>A (p.His1149Asn)
n.310+618C>A
n.430+618C>A
n.395C>A
c.233+94C>A
n.790+618C>A
c.473-3364C>A
n.773+618C>A
c.2226+618C>A (n.2226+618C>A)
n.421+618C>A
c.400C>A (p.His134Asn)
c.3523C>A (p.His1175Asn)
c.3499C>A (p.His1167Asn)
c.3469C>A (p.His1157Asn)
c.3451C>A (p.His1151Asn)
c.3397C>A (p.His1133Asn)
c.3316C>A (p.His1106Asn)
c.3259C>A (p.His1087Asn)
c.1345C>A (p.His449Asn)
c.523C>A (p.His175Asn)
n.3538C>A
c.3565C>A (p.His1189Asn)
c.3493C>A (p.His1165Asn)
c.3355C>A (p.His1119Asn)
c.1441C>A (p.His481Asn)
16g.2111723C>ACA493049983PKD1c.3444G>T (p.Pro1148=)
n.310+617G>T
n.430+617G>T
n.394G>T
c.233+93G>T
n.790+617G>T
c.473-3365G>T
n.773+617G>T
c.2226+617G>T (n.2226+617G>T)
n.421+617G>T
c.399G>T (p.Pro133=)
c.3522G>T (p.Pro1174=)
c.3498G>T (p.Pro1166=)
c.3468G>T (p.Pro1156=)
c.3450G>T (p.Pro1150=)
c.3396G>T (p.Pro1132=)
c.3315G>T (p.Pro1105=)
c.3258G>T (p.Pro1086=)
c.1344G>T (p.Pro448=)
c.522G>T (p.Pro174=)
n.3537G>T
c.3564G>T (p.Pro1188=)
c.3492G>T (p.Pro1164=)
c.3354G>T (p.Pro1118=)
c.1440G>T (p.Pro480=)
 gnomAD v4
16g.2111723C=CA2202047794PKD1c.3444G= (p.Pro1148=)
n.310+617G=
n.430+617G=
n.394G=
c.233+93G=
n.790+617G=
c.473-3365G=
n.773+617G=
c.2226+617G= (n.2226+617G=)
n.421+617G=
c.399G= (p.Pro133=)
c.3522G= (p.Pro1174=)
c.3498G= (p.Pro1166=)
c.3468G= (p.Pro1156=)
c.3450G= (p.Pro1150=)
c.3396G= (p.Pro1132=)
c.3315G= (p.Pro1105=)
c.3258G= (p.Pro1086=)
c.1344G= (p.Pro448=)
c.522G= (p.Pro174=)
n.3537G=
c.3564G= (p.Pro1188=)
c.3492G= (p.Pro1164=)
c.3354G= (p.Pro1118=)
c.1440G= (p.Pro480=)
16g.2111723C>GCA493049985PKD1c.3444G>C (p.Pro1148=)
n.310+617G>C
n.430+617G>C
n.394G>C
c.233+93G>C
n.790+617G>C
c.473-3365G>C
n.773+617G>C
c.2226+617G>C (n.2226+617G>C)
n.421+617G>C
c.399G>C (p.Pro133=)
c.3522G>C (p.Pro1174=)
c.3498G>C (p.Pro1166=)
c.3468G>C (p.Pro1156=)
c.3450G>C (p.Pro1150=)
c.3396G>C (p.Pro1132=)
c.3315G>C (p.Pro1105=)
c.3258G>C (p.Pro1086=)
c.1344G>C (p.Pro448=)
c.522G>C (p.Pro174=)
n.3537G>C
c.3564G>C (p.Pro1188=)
c.3492G>C (p.Pro1164=)
c.3354G>C (p.Pro1118=)
c.1440G>C (p.Pro480=)
16g.2111723C>TCA7832767PKD1c.3444G>A (p.Pro1148=)
n.310+617G>A
n.430+617G>A
n.394G>A
c.233+93G>A
n.790+617G>A
c.473-3365G>A
n.773+617G>A
c.2226+617G>A (n.2226+617G>A)
n.421+617G>A
c.399G>A (p.Pro133=)
c.3522G>A (p.Pro1174=)
c.3498G>A (p.Pro1166=)
c.3468G>A (p.Pro1156=)
c.3450G>A (p.Pro1150=)
c.3396G>A (p.Pro1132=)
c.3315G>A (p.Pro1105=)
c.3258G>A (p.Pro1086=)
c.1344G>A (p.Pro448=)
c.522G>A (p.Pro174=)
n.3537G>A
c.3564G>A (p.Pro1188=)
c.3492G>A (p.Pro1164=)
c.3354G>A (p.Pro1118=)
c.1440G>A (p.Pro480=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111724G>ACA276781910PKD1c.3443C>T (p.Pro1148Leu)
n.310+616C>T
n.430+616C>T
n.393C>T
c.233+92C>T
n.790+616C>T
c.473-3366C>T
n.773+616C>T
c.2226+616C>T (n.2226+616C>T)
n.421+616C>T
c.398C>T (p.Pro133Leu)
c.3521C>T (p.Pro1174Leu)
c.3497C>T (p.Pro1166Leu)
c.3467C>T (p.Pro1156Leu)
c.3449C>T (p.Pro1150Leu)
c.3395C>T (p.Pro1132Leu)
c.3314C>T (p.Pro1105Leu)
c.3257C>T (p.Pro1086Leu)
c.1343C>T (p.Pro448Leu)
c.521C>T (p.Pro174Leu)
n.3536C>T
c.3563C>T (p.Pro1188Leu)
c.3491C>T (p.Pro1164Leu)
c.3353C>T (p.Pro1118Leu)
c.1439C>T (p.Pro480Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.2111724G>CCA394383087PKD1c.3443C>G (p.Pro1148Arg)
n.310+616C>G
n.430+616C>G
n.393C>G
c.233+92C>G
n.790+616C>G
c.473-3366C>G
n.773+616C>G
c.2226+616C>G (n.2226+616C>G)
n.421+616C>G
c.398C>G (p.Pro133Arg)
c.3521C>G (p.Pro1174Arg)
c.3497C>G (p.Pro1166Arg)
c.3467C>G (p.Pro1156Arg)
c.3449C>G (p.Pro1150Arg)
c.3395C>G (p.Pro1132Arg)
c.3314C>G (p.Pro1105Arg)
c.3257C>G (p.Pro1086Arg)
c.1343C>G (p.Pro448Arg)
c.521C>G (p.Pro174Arg)
n.3536C>G
c.3563C>G (p.Pro1188Arg)
c.3491C>G (p.Pro1164Arg)
c.3353C>G (p.Pro1118Arg)
c.1439C>G (p.Pro480Arg)
 dbSNP
16g.2111724G=CA2202047795PKD1c.3443C= (p.Pro1148=)
n.310+616C=
n.430+616C=
n.393C=
c.233+92C=
n.790+616C=
c.473-3366C=
n.773+616C=
c.2226+616C= (n.2226+616C=)
n.421+616C=
c.398C= (p.Pro133=)
c.3521C= (p.Pro1174=)
c.3497C= (p.Pro1166=)
c.3467C= (p.Pro1156=)
c.3449C= (p.Pro1150=)
c.3395C= (p.Pro1132=)
c.3314C= (p.Pro1105=)
c.3257C= (p.Pro1086=)
c.1343C= (p.Pro448=)
c.521C= (p.Pro174=)
n.3536C=
c.3563C= (p.Pro1188=)
c.3491C= (p.Pro1164=)
c.3353C= (p.Pro1118=)
c.1439C= (p.Pro480=)
16g.2111724G>TCA394383086PKD1c.3443C>A (p.Pro1148Gln)
n.310+616C>A
n.430+616C>A
n.393C>A
c.233+92C>A
n.790+616C>A
c.473-3366C>A
n.773+616C>A
c.2226+616C>A (n.2226+616C>A)
n.421+616C>A
c.398C>A (p.Pro133Gln)
c.3521C>A (p.Pro1174Gln)
c.3497C>A (p.Pro1166Gln)
c.3467C>A (p.Pro1156Gln)
c.3449C>A (p.Pro1150Gln)
c.3395C>A (p.Pro1132Gln)
c.3314C>A (p.Pro1105Gln)
c.3257C>A (p.Pro1086Gln)
c.1343C>A (p.Pro448Gln)
c.521C>A (p.Pro174Gln)
n.3536C>A
c.3563C>A (p.Pro1188Gln)
c.3491C>A (p.Pro1164Gln)
c.3353C>A (p.Pro1118Gln)
c.1439C>A (p.Pro480Gln)
 gnomAD v4

Number of alleles fetched