ClinVar Miner

List of variants in gene PKD1 studied for Polycystic kidney disease, adult type

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Gene type:
ClinVar version:
Total variants: 459
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HGVS dbSNP
GRCh37/hg19 16p13.3(chr16:2140675-2140809)
NC_000016.10:g.2099923_2099925GAG[1]
NC_000016.10:g.2111466_2111468GCG[1]
NC_000016.10:g.2119122_2119126TAAAT[1]
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724
NM_001009944.3(PKD1):c.1004_1019del (p.Ala335fs)
NM_001009944.3(PKD1):c.10051-25G>A rs150399422
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs) rs1567165997
NM_001009944.3(PKD1):c.10163del (p.Ala3388fs) rs1596503384
NM_001009944.3(PKD1):c.10168-34G>A rs183682478
NM_001009944.3(PKD1):c.10220+2_10220+3del rs1114167366
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181
NM_001009944.3(PKD1):c.10239C>T (p.Ser3413=) rs150310430
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter) rs780009030
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=) rs7194935
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu) rs147464577
NM_001009944.3(PKD1):c.10406-4C>T rs151095649
NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile) rs776616291
NM_001009944.3(PKD1):c.10441del (p.Val3481fs)
NM_001009944.3(PKD1):c.10487del (p.Leu3496fs) rs1555448106
NM_001009944.3(PKD1):c.1078_1088del (p.Glu360fs) rs1555459001
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met) rs1428207672
NM_001009944.3(PKD1):c.1097C>G (p.Ser366Trp) rs752356523
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=) rs35842
NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter) rs1286585831
NM_001009944.3(PKD1):c.11713-3C>T rs754015180
NM_001009944.3(PKD1):c.11716T>C (p.Cys3906Arg)
NM_001009944.3(PKD1):c.1171dup (p.Ile391fs)
NM_001009944.3(PKD1):c.11752G>T (p.Glu3918Ter)
NM_001009944.3(PKD1):c.11858T>C (p.Leu3953Pro) rs1596476599
NM_001009944.3(PKD1):c.11875G>C (p.Ala3959Pro) rs756245085
NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967fs) rs886040959
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855
NM_001009944.3(PKD1):c.1193C>T (p.Pro398Leu)
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=) rs116236042
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.3(PKD1):c.11984dup (p.Phe3996fs)
NM_001009944.3(PKD1):c.12004-34C>A rs117865497
NM_001009944.3(PKD1):c.12004-7_12012dup rs1596475487
NM_001009944.3(PKD1):c.1201+1G>A rs1596588978
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter) rs1218054241
NM_001009944.3(PKD1):c.12039_12040insAC (p.Val4014fs)
NM_001009944.3(PKD1):c.12070C>T (p.Pro4024Ser) rs771494407
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960
NM_001009944.3(PKD1):c.12138+22del rs199701927
NM_001009944.3(PKD1):c.12139-2A>C
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986
NM_001009944.3(PKD1):c.12217_12221del (p.Thr4073fs) rs1567146946
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser) rs1363663761
NM_001009944.3(PKD1):c.12261T>A (p.Cys4087Ter) rs199476097
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) rs1060499718
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs)
NM_001009944.3(PKD1):c.12348del (p.Glu4116fs) rs1596473420
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp)
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter) rs756212622
NM_001009944.3(PKD1):c.12386T>G (p.Met4129Arg)
NM_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter) rs764447736
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502
NM_001009944.3(PKD1):c.12420G>A (p.Trp4140Ter) rs199476102
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
NM_001009944.3(PKD1):c.12490del (p.Arg4164fs) rs1596472276
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs) rs1555444249
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs)
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter)
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443
NM_001009944.3(PKD1):c.1278_1280GGC[1] (p.Ala428del) rs724159824
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.1303C>T (p.Gln435Ter)
NM_001009944.3(PKD1):c.1307G>T (p.Cys436Phe)
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888
NM_001009944.3(PKD1):c.1347_1356delinsAC (p.Ser449fs) rs1567216323
NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys)
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.1539C>T (p.Pro513=) rs550769703
NM_001009944.3(PKD1):c.1584C>A (p.Tyr528Ter) rs1401015526
NM_001009944.3(PKD1):c.1606+5G>A
NM_001009944.3(PKD1):c.1607-27C>T rs4787158
NM_001009944.3(PKD1):c.1630_1632CTC[1] (p.Leu545del) rs1596585121
NM_001009944.3(PKD1):c.166_167insGCGGGCC (p.Leu56fs) rs1596636668
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser) rs1596582702
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1849+14TGGTGGG[2] rs56173969
NM_001009944.3(PKD1):c.1849+21_1849+34del rs56173969
NM_001009944.3(PKD1):c.1850-4A>G rs35929659
NM_001009944.3(PKD1):c.1930_1932delinsTG (p.Gly644fs) rs1596580473
NM_001009944.3(PKD1):c.1931del (p.Gly644fs) rs1596580483
NM_001009944.3(PKD1):c.2032del (p.Ala678fs)
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter) rs1174034883
NM_001009944.3(PKD1):c.2085del (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2097+2T>C
NM_001009944.3(PKD1):c.2097+5G>A
NM_001009944.3(PKD1):c.2101_2102dup (p.Leu702fs)
NM_001009944.3(PKD1):c.2105T>G (p.Leu702Arg) rs1596577674
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141
NM_001009944.3(PKD1):c.215T>A (p.Leu72Gln) rs1596636573
NM_001009944.3(PKD1):c.216-38G>A rs3874659
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln) rs40433
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454
NM_001009944.3(PKD1):c.2396_2421del (p.Arg799fs)
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala) rs766549097
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser) rs766302578
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter)
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2540T>C (p.Leu847Pro) rs1596576007
NM_001009944.3(PKD1):c.2622_2626CCCTG[3] (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs) rs1567210080
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726
NM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter)
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs) rs1596574774
NM_001009944.3(PKD1):c.2853+23C>T rs183977076
NM_001009944.3(PKD1):c.2854-5C>T rs114846412
NM_001009944.3(PKD1):c.2854-7C>T rs1234512813
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.288-20G>A rs572319823
NM_001009944.3(PKD1):c.288-21C>T rs187091436
NM_001009944.3(PKD1):c.288-2A>G
NM_001009944.3(PKD1):c.288-32A>G rs56205732
NM_001009944.3(PKD1):c.2930T>A (p.Phe977Tyr) rs1596570459
NM_001009944.3(PKD1):c.2986-14G>A rs376382731
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp)
NM_001009944.3(PKD1):c.3037G>A (p.Val1013Met)
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068
NM_001009944.3(PKD1):c.3071delinsCCC (p.Val1024fs) rs1567206904
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu) rs724159822
NM_001009944.3(PKD1):c.3168C>T (p.Thr1056=) rs770188395
NM_001009944.3(PKD1):c.3184C>T (p.Gln1062Ter)
NM_001009944.3(PKD1):c.3205_3235del (p.Pro1069fs)
NM_001009944.3(PKD1):c.322G>T (p.Glu108Ter) rs1416011785
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs) rs1596566156
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677
NM_001009944.3(PKD1):c.3296-15G>A rs201704201
NM_001009944.3(PKD1):c.3296-1G>A rs1567204631
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu) rs145922241
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del) rs1060499705
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701
NM_001009944.3(PKD1):c.3482G>A (p.Trp1161Ter) rs1205064584
NM_001009944.3(PKD1):c.3489C>T (p.Phe1163=) rs139744826
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3503dup (p.Val1169fs) rs1555456661
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter) rs1057516206
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956
NM_001009944.3(PKD1):c.3684del (p.Val1229fs)
NM_001009944.3(PKD1):c.3716_3718ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241
NM_001009944.3(PKD1):c.3792C>A (p.Tyr1264Ter) rs145263744
NM_001009944.3(PKD1):c.3804_3805del (p.Asn1269fs) rs1596561773
NM_001009944.3(PKD1):c.3850del (p.Ala1284fs) rs1567202350
NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=) rs147850232
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.3(PKD1):c.404G>A (p.Trp135Ter) rs1567219111
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser)
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro)
NM_001009944.3(PKD1):c.4101_4118del (p.Arg1367_Thr1372del)
NM_001009944.3(PKD1):c.4161_4162AG[2] (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985
NM_001009944.3(PKD1):c.4217_4220dup (p.Phe1408fs)
NM_001009944.3(PKD1):c.4222_4232dup (p.Tyr1412fs)
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs) rs34495017
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374
NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=) rs78509585
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=) rs781761438
NM_001009944.3(PKD1):c.4346_4348ACA[1] (p.Asn1450del)
NM_001009944.3(PKD1):c.439dup (p.Val147fs)
NM_001009944.3(PKD1):c.4452del (p.Tyr1485fs)
NM_001009944.3(PKD1):c.445del (p.Gln149fs) rs796052133
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=) rs143843155
NM_001009944.3(PKD1):c.45G>C (p.Leu15=) rs1208066805
NM_001009944.3(PKD1):c.4601_4602delinsTT (p.Ser1534Ile) rs1596558469
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.4654del (p.Val1552fs)
NM_001009944.3(PKD1):c.4657G>A (p.Val1553Ile) rs200049385
NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=) rs71385734
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=) rs79884128
NM_001009944.3(PKD1):c.4709del (p.Thr1570fs) rs1555455797
NM_001009944.3(PKD1):c.4782del (p.Pro1595fs)
NM_001009944.3(PKD1):c.4796dup (p.Tyr1599Ter) rs1596557742
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.4832_4836dup (p.Ala1613fs) rs1596557533
NM_001009944.3(PKD1):c.4838C>T (p.Ala1613Val) rs150405131
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457
NM_001009944.3(PKD1):c.5021del (p.Pro1674fs) rs1555455453
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275
NM_001009944.3(PKD1):c.5108T>C (p.Leu1703Pro) rs1596556474
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.5142del (p.Phe1714fs)
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=) rs9935526
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759
NM_001009944.3(PKD1):c.5366C>G (p.Ser1789Ter) rs1377414968
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=) rs143916489
NM_001009944.3(PKD1):c.5457C>T (p.Ala1819=) rs532521117
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200
NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter) rs1567196052
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.5809del (p.Ser1937fs) rs1555454915
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter) rs200001471
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.5921del (p.Leu1974fs) rs1596553527
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr) rs771005067
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373
NM_001009944.3(PKD1):c.5987T>G (p.Val1996Gly) rs1596553257
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121
NM_001009944.3(PKD1):c.6299C>A (p.Ser2100Ter) rs539793378
NM_001009944.3(PKD1):c.6313A>G (p.Thr2105Ala) rs1229710301
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro) rs1596551934
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr) rs1596590574
NM_001009944.3(PKD1):c.6420C>T (p.Thr2140=) rs1321421286
NM_001009944.3(PKD1):c.6424del (p.Gln2142fs) rs1060499702
NM_001009944.3(PKD1):c.6440_6467del (p.Arg2147fs) rs1567192790
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter)
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291
NM_001009944.3(PKD1):c.6565_6566GT[3] (p.Tyr2190fs) rs1596551138
NM_001009944.3(PKD1):c.6575C>G (p.Thr2192Ser) rs919229409
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6725_6726CA[1] (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6739G>C (p.Ala2247Pro)
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu) rs1555454223
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.678G>A (p.Glu226=)
NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter)
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015
NM_001009944.3(PKD1):c.6911_6912CA[1] (p.Gln2305fs) rs1555454075
NM_001009944.3(PKD1):c.6915+27A>C rs560681737
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=) rs189277711
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp) rs1114167370
NM_001009944.3(PKD1):c.6987_6993GCTGGCG[3] (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7010C>A (p.Thr2337Asn) rs1060499713
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val) rs769636582
NM_001009944.3(PKD1):c.7065+21G>A rs9930234
NM_001009944.3(PKD1):c.7065+9C>T
NM_001009944.3(PKD1):c.7066-5G>A rs372745980
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162
NM_001009944.3(PKD1):c.707del (p.Gln236fs)
NM_001009944.3(PKD1):c.711del (p.Ser238fs)
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=) rs2457533
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met) rs1446061270
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr) rs1555453207
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084
NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg)
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln)
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
NM_001009944.3(PKD1):c.7303_7317del (p.Arg2435_Arg2439del)
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser) rs376618983
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) rs760315179
NM_001009944.3(PKD1):c.7369G>T (p.Glu2457Ter)
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943
NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter) rs1453883641
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=) rs2003782
NM_001009944.3(PKD1):c.7488G>A (p.Thr2496=) rs776604789
NM_001009944.3(PKD1):c.7489+30C>T rs142761413
NM_001009944.3(PKD1):c.7490-10C>T rs201304767
NM_001009944.3(PKD1):c.7495del (p.His2499fs)
NM_001009944.3(PKD1):c.7499A>T (p.Asp2500Val) rs1596540533
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly) rs797044902
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=) rs28575767
NM_001009944.3(PKD1):c.7712C>T (p.Ala2571Val) rs756838066
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter) rs138871063
NM_001009944.3(PKD1):c.7851C>T (p.Thr2617=) rs754620450
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter) rs762003393
NM_001009944.3(PKD1):c.7863+11C>T rs368629973
NM_001009944.3(PKD1):c.7863+13T>C rs115024665
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg) rs9936785
NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs) rs1555452400
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=) rs537012440
NM_001009944.3(PKD1):c.8005del (p.Ala2669fs) rs1596536546
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter)
NM_001009944.3(PKD1):c.8016+26T>C rs9934488
NM_001009944.3(PKD1):c.8016+7T>C rs746089639
NM_001009944.3(PKD1):c.8017-1G>C
NM_001009944.3(PKD1):c.8017-29C>T rs546456429
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter)
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter)
NM_001009944.3(PKD1):c.8087T>C (p.Leu2696Pro) rs201238819
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met) rs139507058
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.3(PKD1):c.8161+21T>C rs4786209
NM_001009944.3(PKD1):c.8161+29G>A rs375810914
NM_001009944.3(PKD1):c.8161+38G>A rs57922772
NM_001009944.3(PKD1):c.8161+38delinsACGTGGCCCGTCCGCCCCA rs1596531620
NM_001009944.3(PKD1):c.8161+4C>T rs766547394
NM_001009944.3(PKD1):c.8161+8G>A rs199569003
NM_001009944.3(PKD1):c.8162-2A>G
NM_001009944.3(PKD1):c.8201_8202CA[1] (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.8234_8235insCGTCACCATC (p.Arg2746fs)
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs) rs1596527579
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.8325G>A (p.Thr2775=) rs540387350
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln) rs367746233
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro) rs1596527065
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043
NM_001009944.3(PKD1):c.8464G>A (p.Val2822Met) rs201289693
NM_001009944.3(PKD1):c.8499delinsAAAG (p.Phe2834_Pro2835insLys) rs1596526681
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro) rs556305338
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879
NM_001009944.3(PKD1):c.8672_8680CCAACTCCG[1] (p.2891_2893ANS[1]) rs763199524
NM_001009944.3(PKD1):c.8672_8680CCAACTCCG[3] (p.2891_2893ANS[3]) rs763199524
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642
NM_001009944.3(PKD1):c.8688_8689insCCAACTCCG (p.Val2897_Val2898insProThrPro) rs1596525953
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val) rs550768338
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs) rs1596525695
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter) rs747638599
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161
NM_001009944.3(PKD1):c.8791+13G>A rs150064577
NM_001009944.3(PKD1):c.8791+5G>A rs751652400
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter) rs750780241
NM_001009944.3(PKD1):c.8896G>T (p.Glu2966Ter) rs773129632
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309
NM_001009944.3(PKD1):c.8932_8934TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.8948+11C>T rs147923678
NM_001009944.3(PKD1):c.8948+12G>A rs369347070
NM_001009944.3(PKD1):c.8948+17A>G rs9928442
NM_001009944.3(PKD1):c.8949-17A>G rs9928278
NM_001009944.3(PKD1):c.8949-20G>A rs9936029
NM_001009944.3(PKD1):c.8949-4C>T rs956501802
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs) rs1555450475
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=) rs1159235832
NM_001009944.3(PKD1):c.9143T>G (p.Leu3048Arg)
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=) rs371368338
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9195G>C (p.Val3065=) rs9935834
NM_001009944.3(PKD1):c.9195_9196delinsCC (p.Phe3066Leu) rs372874584
NM_001009944.3(PKD1):c.9196T>C (p.Phe3066Leu) rs9925969
NM_001009944.3(PKD1):c.9239C>G (p.Thr3080Arg) rs1322954391
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734
NM_001009944.3(PKD1):c.9296A>T (p.Asp3099Val) rs1567173808
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter) rs1596520985
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=) rs12926160
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu)
NM_001009944.3(PKD1):c.9397+3G>C rs1555450109
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro)
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs) rs1596514864
NM_001009944.3(PKD1):c.9458_9484inv (p.His3153_Arg3162delinsArgTrpLysAlaLeuSerProSerArgCys)
NM_001009944.3(PKD1):c.9494T>C (p.Leu3165Pro) rs1555449597
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9569-11C>T rs188641836
NM_001009944.3(PKD1):c.9569-13T>C rs11248911
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) rs1596514027
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala) rs1596513913
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614
NM_001009944.3(PKD1):c.9678C>T (p.Asn3226=) rs138332867
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001009944.3(PKD1):c.9736del (p.Arg3246fs)
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal) rs1057516202
NM_001009944.3(PKD1):c.9767G>T (p.Gly3256Val) rs1596512954
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575
NM_001009944.3(PKD1):c.9824dup (p.Thr3276fs) rs1596512769
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001009944.3(PKD1):c.9867C>A (p.Cys3289Ter) rs1420757773
NM_001009944.3(PKD1):c.9881C>A (p.Ala3294Asp) rs1596512512
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met) rs1459100196
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175
NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs) rs796053523
NM_001009944.3(PKD1):c.99C>A (p.Cys33Ter)
PKD1, 2-BP DEL, 5224AG
PKD1, 3-BP DEL, EX20 AND 8-BP DEL, EX21
PKD1, IVSDS, G-C, +1
Single allele

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