ClinVar Miner

List of variants studied for Polycystic kidney disease by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 692
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632 0.32172
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960 0.30294
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=) rs2457533 0.27959
NM_001009944.3(PKD1):c.1850-4A>G rs35929659 0.26721
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=) rs9935526 0.25800
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=) rs2003782 0.25615
NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=) rs71385734 0.24531
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044 0.23760
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=) rs12926160 0.22231
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677 0.20904
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068 0.20812
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg) rs9936785 0.19138
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=) rs28575767 0.18662
NM_001009944.3(PKD1):c.9569-13T>C rs11248911 0.16978
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884 0.14645
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768 0.14545
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) rs34197769 0.09456
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118 0.08616
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985 0.07036
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=) rs79884128 0.06100
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986 0.05783
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502 0.05705
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123 0.05636
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553 0.05104
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726 0.05044
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348 0.05024
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034 0.04948
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488 0.04490
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.04243
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188 0.04174
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513 0.03937
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=) rs143916489 0.03762
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_001009944.3(PKD1):c.10822-14C>T rs7192711 0.03494
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309 0.03447
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313 0.03243
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=) rs7194935 0.03183
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
NM_001009944.3(PKD1):c.2854-5C>T rs114846412 0.02895
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051 0.02881
NM_001009944.3(PKD1):c.2214C>G (p.Pro738=) rs543166733 0.02846
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377 0.02396
NM_000297.4(PKD2):c.596-16C>T rs62310565 0.01932
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=) rs116236042 0.01894
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593 0.01538
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=) rs189277711 0.01413
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713 0.01372
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
NM_001009944.3(PKD1):c.3489C>T (p.Phe1163=) rs139744826 0.01269
NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=) rs567482892 0.01235
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001009944.3(PKD1):c.1539C>T (p.Pro513=) rs550769703 0.01159
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275 0.00989
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=) rs78509585 0.00982
NM_001009944.3(PKD1):c.7863+13T>C rs115024665 0.00963
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00924
NM_138694.4(PKHD1):c.888A>T (p.Pro296=) rs76012218 0.00916
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084 0.00901
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541 0.00890
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787 0.00720
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) rs45478794 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_000297.4(PKD2):c.444C>T (p.Gly148=) rs181704860 0.00680
NM_001009944.3(PKD1):c.7066-5G>A rs372745980 0.00669
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385 0.00619
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00563
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878 0.00559
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=) rs28674911 0.00534
NM_001009944.3(PKD1):c.3277C>T (p.His1093Tyr) rs146352591 0.00519
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830 0.00507
NM_001009944.3(PKD1):c.-67C>T rs1016465177 0.00503
NM_001009944.3(PKD1):c.214C>T (p.Leu72=) rs972113626 0.00498
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291 0.00492
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374 0.00485
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00448
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=) rs139399947 0.00411
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790 0.00411
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00383
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033 0.00366
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410 0.00357
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665 0.00350
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=) rs57870377 0.00331
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00329
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00328
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00324
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=) rs138648495 0.00324
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00316
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001009944.3(PKD1):c.11337C>G (p.Ser3779Arg) rs116835405 0.00308
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959 0.00286
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_001009944.3(PKD1):c.2515C>T (p.Pro839Ser) rs146651553 0.00276
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met) rs139507058 0.00267
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=) rs143013095 0.00239
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00226
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001009944.3(PKD1):c.8948+11C>T rs147923678 0.00208
NM_001009944.3(PKD1):c.4872C>T (p.Ile1624=) rs142575178 0.00203
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319 0.00199
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371 0.00185
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838 0.00182
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130 0.00178
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027 0.00161
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val) rs139917246 0.00140
NM_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00139
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=) rs146745256 0.00137
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val) rs144590217 0.00123
NM_001009944.3(PKD1):c.-109C>T rs1034012323 0.00120
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00116
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00109
NM_001009944.3(PKD1):c.9924-11C>T rs201154266 0.00108
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu) rs979342927 0.00102
NM_001009944.3(PKD1):c.6915+14A>G rs199559513 0.00101
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00093
NM_001009944.3(PKD1):c.3140C>T (p.Ser1047Leu) rs147910505 0.00092
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00091
NM_001009944.3(PKD1):c.-195G>A rs867790304 0.00081
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe) rs370141157 0.00080
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128 0.00080
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val) rs141946034 0.00078
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser) rs200279710 0.00076
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=) rs12102740 0.00073
NM_000297.4(PKD2):c.-14C>A rs552115097 0.00072
NM_001009944.3(PKD1):c.4925G>A (p.Arg1642His) rs191014450 0.00071
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=) rs138116334 0.00070
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) rs1801612 0.00065
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile) rs140991712 0.00065
NM_001009944.3(PKD1):c.8161+5C>T rs534696523 0.00061
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.2431C>G (p.Leu811Val) rs137928037 0.00058
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001009944.3(PKD1):c.11616G>A (p.Glu3872=) rs370230612 0.00057
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=) rs371368338 0.00056
NM_001009944.3(PKD1):c.12139-5C>T rs146430229 0.00055
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met) rs151089809 0.00054
NM_001009944.3(PKD1):c.768C>T (p.Ala256=) rs548835442 0.00049
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn) rs199700485 0.00049
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=) rs143843155 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00047
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr) rs143312683 0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_001009944.3(PKD1):c.10240G>A (p.Gly3414Ser) rs371762181 0.00040
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=) rs181130940 0.00040
NM_001009944.3(PKD1):c.-62C>T rs889397886 0.00039
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835 0.00039
NM_001009944.3(PKD1):c.12253C>T (p.Leu4085=) rs199674888 0.00039
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=) rs367600795 0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=) rs375384742 0.00036
NM_001009944.3(PKD1):c.871G>T (p.Ala291Ser) rs199693673 0.00036
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=) rs373880615 0.00034
NM_001009944.3(PKD1):c.7490-10C>T rs201304767 0.00032
NM_001009944.3(PKD1):c.951T>C (p.Ala317=) rs540366995 0.00032
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) rs377436997 0.00031
NM_001009944.3(PKD1):c.5363G>A (p.Gly1788Asp) rs201778279 0.00031
NM_001009944.3(PKD1):c.2707A>G (p.Ser903Gly) rs4018172 0.00030
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001009944.3(PKD1):c.8618C>T (p.Thr2873Ile) rs148378229 0.00029
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690 0.00028
NM_001009944.3(PKD1):c.2527T>C (p.Ser843Pro) rs181738771 0.00027
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348 0.00026
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131 0.00024
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=) rs145648167 0.00023
NM_001009944.3(PKD1):c.10363C>T (p.Leu3455=) rs114102239 0.00022
NM_001009944.3(PKD1):c.10822-8C>G rs9924796 0.00022
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln) rs374129201 0.00022
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr) rs201599671 0.00020
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235 0.00020
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00020
NM_001009944.3(PKD1):c.9548G>A (p.Arg3183Gln) rs79648977 0.00020
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001009944.3(PKD1):c.10168-8C>T rs199808929 0.00018
NM_001009944.3(PKD1):c.3726G>A (p.Thr1242=) rs146243410 0.00017
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His) rs375198888 0.00017
NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile) rs145532417 0.00017
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533 0.00016
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val) rs183084156 0.00016
NM_001009944.3(PKD1):c.10316G>A (p.Arg3439Gln) rs138546384 0.00015
NM_001009944.3(PKD1):c.5758C>T (p.Arg1920Cys) rs185746648 0.00014
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317 0.00014
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=) rs764827551 0.00014
NM_001009944.3(PKD1):c.9169G>A (p.Val3057Met) rs778055216 0.00013
NM_001009944.3(PKD1):c.6572G>A (p.Arg2191His) rs774490045 0.00012
NM_001009944.3(PKD1):c.10643G>A (p.Arg3548His) rs62624465 0.00011
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.4695C>T (p.Ser1565=) rs781264169 0.00011
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu) rs201062488 0.00011
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=) rs754894798 0.00011
NM_001009944.3(PKD1):c.8755G>A (p.Gly2919Arg) rs139438157 0.00011
NM_000297.4(PKD2):c.356G>A (p.Arg119His) rs748654180 0.00010
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=) rs990065629 0.00010
NM_001009944.3(PKD1):c.3486C>G (p.Asp1162Glu) rs144211349 0.00010
NM_001009944.3(PKD1):c.4220C>T (p.Pro1407Leu) rs140412120 0.00010
NM_001009944.3(PKD1):c.8161+15G>A rs776023570 0.00010
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268 0.00010
NM_000297.4(PKD2):c.2391A>C (p.Pro797=) rs556777891 0.00009
NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=) rs778410054 0.00009
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr) rs201035636 0.00009
NM_001009944.3(PKD1):c.5704G>A (p.Gly1902Arg) rs370479407 0.00009
NM_001009944.3(PKD1):c.6099G>A (p.Ala2033=) rs376744819 0.00009
NM_001009944.3(PKD1):c.9035C>T (p.Thr3012Met) rs376160782 0.00009
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) rs573469832 0.00008
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp) rs551353498 0.00008
NM_001009944.3(PKD1):c.4512C>T (p.Asp1504=) rs774929658 0.00008
NM_001009944.3(PKD1):c.10101C>T (p.Ile3367=) rs535964972 0.00007
NM_001009944.3(PKD1):c.413G>A (p.Arg138Gln) rs2515725 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_001009944.3(PKD1):c.11627C>T (p.Ala3876Val) rs759962601 0.00006
NM_001009944.3(PKD1):c.12171C>T (p.Ser4057=) rs140154490 0.00006
NM_001009944.3(PKD1):c.2949T>C (p.Asn983=) rs766568622 0.00006
NM_001009944.3(PKD1):c.4905G>A (p.Leu1635=) rs748967532 0.00006
NM_001009944.3(PKD1):c.6954C>T (p.Arg2318=) rs1209701736 0.00006
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val) rs1353004865 0.00006
NM_001009944.3(PKD1):c.8963C>T (p.Ala2988Val) rs765076655 0.00006
NM_001009944.3(PKD1):c.8994C>T (p.His2998=) rs776013663 0.00006
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys) rs543328728 0.00006
NM_138694.4(PKHD1):c.171A>G (p.Gln57=) rs543640706 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg) rs1050939771 0.00005
NM_001009944.3(PKD1):c.4056C>T (p.Ser1352=) rs756229724 0.00005
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=) rs759043048 0.00005
NM_001009944.3(PKD1):c.8191G>A (p.Val2731Met) rs138906895 0.00005
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys) rs773857360 0.00005
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=) rs770635587 0.00005
NM_001009944.3(PKD1):c.1021G>A (p.Ala341Thr) rs2855337 0.00004
NM_001009944.3(PKD1):c.2098-3C>T rs1295368570 0.00004
NM_001009944.3(PKD1):c.2607C>A (p.Arg869=) rs537405706 0.00004
NM_001009944.3(PKD1):c.3714C>T (p.Gly1238=) rs769745056 0.00004
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=) rs142035983 0.00004
NM_001009944.3(PKD1):c.5589C>T (p.Ser1863=) rs775686229 0.00004
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=) rs556708086 0.00004
NM_001009944.3(PKD1):c.6091G>A (p.Val2031Met) rs765389584 0.00004
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val) rs761726794 0.00004
NM_001009944.3(PKD1):c.9168C>T (p.Phe3056=) rs199787425 0.00004
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=) rs535771951 0.00004
NM_001009944.3(PKD1):c.957G>A (p.Pro319=) rs62038821 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_001009944.3(PKD1):c.2396G>A (p.Arg799Gln) rs766489466 0.00003
NM_001009944.3(PKD1):c.5994C>T (p.Arg1998=) rs766375023 0.00003
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu) rs767363184 0.00003
NM_001009944.3(PKD1):c.6440G>A (p.Arg2147Gln) rs771035065 0.00003
NM_001009944.3(PKD1):c.7818G>C (p.Gln2606His) rs753798096 0.00003
NM_001009944.3(PKD1):c.9398-8C>T rs781378410 0.00003
NM_138694.4(PKHD1):c.3704G>A (p.Arg1235Gln) rs567239866 0.00003
NM_001009944.3(PKD1):c.-187G>A rs1304295296 0.00002
NM_001009944.3(PKD1):c.-207A>G rs1380968772 0.00002
NM_001009944.3(PKD1):c.11156+4C>T rs1417376349 0.00002
NM_001009944.3(PKD1):c.2068G>A (p.Val690Ile) rs948344824 0.00002
NM_001009944.3(PKD1):c.360-5T>C rs4018168 0.00002
NM_001009944.3(PKD1):c.3906C>T (p.Ala1302=) rs547817931 0.00002
NM_001009944.3(PKD1):c.773C>T (p.Thr258Ile) rs754889452 0.00002
NM_001009944.3(PKD1):c.8061G>A (p.Thr2687=) rs745338344 0.00002
NM_001009944.3(PKD1):c.8366A>G (p.Asp2789Gly) rs772565411 0.00002
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1094+1G>A rs58606740 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.1548+9G>C rs376901684 0.00001
NM_000297.4(PKD2):c.181C>T (p.Gln61Ter) rs1355372474 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2020-14T>C rs1164629640 0.00001
NM_000297.4(PKD2):c.2139C>T (p.Val713=) rs200707583 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_000297.4(PKD2):c.710-10T>G rs1727324181 0.00001
NM_000297.4(PKD2):c.711G>C (p.Leu237Phe) rs781318662 0.00001
NM_000297.4(PKD2):c.843+6T>C rs753371816 0.00001
NM_000297.4(PKD2):c.900G>C (p.Gln300His) rs1394365736 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys) rs1287231217 0.00001
NM_001009944.3(PKD1):c.10536G>A (p.Ala3512=) rs1265357275 0.00001
NM_001009944.3(PKD1):c.10726G>A (p.Val3576Met) rs1483830437 0.00001
NM_001009944.3(PKD1):c.11292C>A (p.Gly3764=) rs553713361 0.00001
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 0.00001
NM_001009944.3(PKD1):c.167T>C (p.Leu56Pro) rs2092940195 0.00001
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.2882C>T (p.Ser961Leu) rs1409614100 0.00001
NM_001009944.3(PKD1):c.3080T>G (p.Val1027Gly) rs377725958 0.00001
NM_001009944.3(PKD1):c.3242C>T (p.Ser1081Leu) rs377441860 0.00001
NM_001009944.3(PKD1):c.3873C>G (p.Val1291=) rs753464188 0.00001
NM_001009944.3(PKD1):c.3920C>T (p.Thr1307Met) rs527659927 0.00001
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=) rs776410570 0.00001
NM_001009944.3(PKD1):c.429G>A (p.Gln143=) rs765295197 0.00001
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro) rs541777274 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.5297T>G (p.Phe1766Cys) rs767720073 0.00001
NM_001009944.3(PKD1):c.5559C>T (p.Thr1853=) rs752107118 0.00001
NM_001009944.3(PKD1):c.5979A>G (p.Thr1993=) rs756636397 0.00001
NM_001009944.3(PKD1):c.6195C>T (p.Ala2065=) rs770590637 0.00001
NM_001009944.3(PKD1):c.6450G>A (p.Glu2150=) rs1257734818 0.00001
NM_001009944.3(PKD1):c.6527G>A (p.Arg2176His) rs777123546 0.00001
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8043C>G (p.Arg2681=) rs1040303746 0.00001
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=) rs377029031 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser) rs1057523051 0.00001
NM_001009944.3(PKD1):c.8504C>T (p.Pro2835Leu) rs2575317 0.00001
NM_001009944.3(PKD1):c.8688C>T (p.Ser2896=) rs548736542 0.00001
NM_001009944.3(PKD1):c.9534C>T (p.Ser3178=) rs374200345 0.00001
NM_001009944.3(PKD1):c.9885C>T (p.Asn3295=) rs764028566 0.00001
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.3561-11A>G rs774114631 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156 0.00001
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_000297.4(PKD2):c.1094+1G>C rs58606740
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter) rs924484889
NM_000297.4(PKD2):c.1262C>A (p.Ala421Glu) rs1727652224
NM_000297.4(PKD2):c.1322dup (p.Leu441fs) rs1727782355
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1445del (p.Phe482fs) rs1578135940
NM_000297.4(PKD2):c.152del (p.Gly51fs) rs1726229033
NM_000297.4(PKD2):c.155T>C (p.Leu52Pro) rs1726229362
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) rs1720124087
NM_000297.4(PKD2):c.1662G>A (p.Trp554Ter) rs1720126853
NM_000297.4(PKD2):c.1663C>T (p.Gln555Ter) rs1720127024
NM_000297.4(PKD2):c.1704dup (p.Val569fs) rs1720128947
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu) rs1720129428
NM_000297.4(PKD2):c.1716+2T>A rs1720129561
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del) rs1720323681
NM_000297.4(PKD2):c.1868_1872del (p.Val623fs) rs1720325828
NM_000297.4(PKD2):c.1986del (p.Thr663fs) rs1720430411
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs) rs1720431219
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter) rs770308463
NM_000297.4(PKD2):c.2240+1G>C rs1553927783
NM_000297.4(PKD2):c.2286C>G (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2525T>G (p.Leu842Arg) rs1721170351
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) rs1560632930
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.423dup (p.Gly142fs) rs1726246959
NM_000297.4(PKD2):c.488C>G (p.Pro163Arg) rs1726250193
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter) rs1163840810
NM_000297.4(PKD2):c.586G>A (p.Gly196Arg) rs756765752
NM_000297.4(PKD2):c.642_643dup (p.Lys215fs) rs1726676402
NM_000297.4(PKD2):c.662del (p.Leu221fs) rs1726677278
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.710-3C>G rs1727324496
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter) rs1578129049
NM_000297.4(PKD2):c.843+1G>A rs1727333593
NM_000297.4(PKD2):c.844-2A>G rs1727412388
NM_000297.4(PKD2):c.848_849dup (p.Glu284fs) rs1727412539
NM_000297.4(PKD2):c.860_861insG (p.Leu288fs) rs1727413597
NM_000297.4(PKD2):c.875A>C (p.Tyr292Ser) rs1560608538
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.954T>C (p.Val318=) rs1727418866
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_001009944.2(PKD1):c.12004delG rs2091475541
NM_001009944.3(PKD1):c.-109C>G rs1034012323
NM_001009944.3(PKD1):c.-52C>T rs1051951834
NM_001009944.3(PKD1):c.10031del (p.Phe3344fs) rs2092006545
NM_001009944.3(PKD1):c.10051-10C>A rs3874642
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) rs1567166045
NM_001009944.3(PKD1):c.10349A>G (p.Glu3450Gly) rs1321795630
NM_001009944.3(PKD1):c.10619-12_10619-11del rs1287879038
NM_001009944.3(PKD1):c.10619-13del rs562614426
NM_001009944.3(PKD1):c.10657T>G (p.Trp3553Gly) rs1349398113
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter) rs1177764199
NM_001009944.3(PKD1):c.10733del (p.Ala3578fs) rs2091725538
NM_001009944.3(PKD1):c.10822-8del rs373684171
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.10966C>T (p.Leu3656=) rs898443059
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11156+12_11156+13delinsAA rs2091665982
NM_001009944.3(PKD1):c.11157-1G>A rs2091646317
NM_001009944.3(PKD1):c.11178G>A (p.Trp3726Ter) rs2091645594
NM_001009944.3(PKD1):c.111C>A (p.Cys37Ter) rs2092941027
NM_001009944.3(PKD1):c.11242C>T (p.Arg3748Trp) rs2091642915
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11313_11314insCCCG (p.Ala3772fs) rs2091620545
NM_001009944.3(PKD1):c.11388del (p.Tyr3797fs) rs2091615030
NM_001009944.3(PKD1):c.11410G>A (p.Gly3804Arg) rs2091612949
NM_001009944.3(PKD1):c.11412-7C>G rs553377243
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) rs1325300747
NM_001009944.3(PKD1):c.11538-10C>A rs377419559
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.11552del (p.Phe3851fs) rs2091580617
NM_001009944.3(PKD1):c.11712+2T>C rs2091571271
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11768A>C (p.His3923Pro) rs1472012498
NM_001009944.3(PKD1):c.11784G>A (p.Trp3928Ter) rs759035704
NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs) rs1555445192
NM_001009944.3(PKD1):c.11831T>C (p.Leu3944Pro) rs2091494966
NM_001009944.3(PKD1):c.11853dup (p.Arg3952fs) rs2091493781
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) rs1596476503
NM_001009944.3(PKD1):c.11889G>A (p.Trp3963Ter) rs2091491322
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.12007del (p.Ala4003fs) rs2091475296
NM_001009944.3(PKD1):c.1201+1G>A rs1596588978
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.1202-2A>T rs2092662592
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12048C>T (p.Gly4016=) rs756122519
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12062G>A (p.Arg4021Gln) rs1487111123
NM_001009944.3(PKD1):c.12078C>T (p.Leu4026=) rs562488184
NM_001009944.3(PKD1):c.12132C>T (p.Ala4044=) rs1804177
NM_001009944.3(PKD1):c.12138+22del rs199701927
NM_001009944.3(PKD1):c.12165C>T (p.Leu4055=) rs375183934
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter) rs2091450305
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12382G>A (p.Glu4128Lys) rs1596473289
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12444+1G>A rs2091431794
NM_001009944.3(PKD1):c.12445-2A>C rs1555444334
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.12658G>T (p.Glu4220Ter) rs2091397048
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.12781G>A (p.Gly4261Ser) rs2091385750
NM_001009944.3(PKD1):c.12819C>T (p.Arg4273=) rs2091381361
NM_001009944.3(PKD1):c.12824C>T (p.Ala4275Val) rs1211572683
NM_001009944.3(PKD1):c.12843G>A (p.Val4281=) rs2091378699
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr) rs2092660647
NM_001009944.3(PKD1):c.1379T>G (p.Val460Gly) rs2092659177
NM_001009944.3(PKD1):c.1385+12del rs1357257296
NM_001009944.3(PKD1):c.1385+13del rs2092658494
NM_001009944.3(PKD1):c.1391del (p.Leu464fs) rs2092649198
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter) rs2092629130
NM_001009944.3(PKD1):c.1817G>C (p.Arg606Pro) rs2092629034
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1849+1G>T rs2092628618
NM_001009944.3(PKD1):c.2076G>A (p.Ala692=) rs1317987043
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter) rs2092604224
NM_001009944.3(PKD1):c.2136T>C (p.Gly712=) rs565591302
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) rs747483368
NM_001009944.3(PKD1):c.2250G>A (p.Trp750Ter) rs2092601367
NM_001009944.3(PKD1):c.2306T>G (p.Leu769Arg) rs2092600592
NM_001009944.3(PKD1):c.2438G>T (p.Cys813Phe) rs2092598008
NM_001009944.3(PKD1):c.2452G>C (p.Val818Leu) rs2092597752
NM_001009944.3(PKD1):c.2457C>T (p.Ser819=) rs1454717343
NM_001009944.3(PKD1):c.2498A>G (p.Asp833Gly) rs1354266181
NM_001009944.3(PKD1):c.2528C>G (p.Ser843Ter) rs2092596212
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2605del (p.Arg869fs) rs2092594790
NM_001009944.3(PKD1):c.2660G>A (p.Trp887Ter) rs769587438
NM_001009944.3(PKD1):c.2759C>G (p.Ala920Gly) rs1555457748
NM_001009944.3(PKD1):c.2777_2789del (p.Val926fs) rs2092590647
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.288-6_288-5del rs2092684439
NM_001009944.3(PKD1):c.290del (p.Asp97fs) rs2092684328
NM_001009944.3(PKD1):c.2914A>T (p.Lys972Ter) rs2092566273
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.2986-12del rs2092557921
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.2992G>C (p.Ala998Pro) rs2092557509
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp) rs2092684149
NM_001009944.3(PKD1):c.304A>T (p.Lys102Ter) rs2092684104
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser) rs2092538545
NM_001009944.3(PKD1):c.3295+2T>G rs2092536098
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3486_3489delinsGTTT (p.Asp1162Glu) rs2092509681
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3572_3573insA (p.Glu1192fs) rs2092507274
NM_001009944.3(PKD1):c.359+2T>G rs2092683440
NM_001009944.3(PKD1):c.3601del (p.Ala1201fs) rs2092506499
NM_001009944.3(PKD1):c.3636C>T (p.Leu1212=) rs753613908
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter) rs2092501974
NM_001009944.3(PKD1):c.4039C>G (p.His1347Asp) rs774648280
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs) rs2092491511
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro) rs2092490160
NM_001009944.3(PKD1):c.4136A>T (p.Glu1379Val) rs149210297
NM_001009944.3(PKD1):c.4168C>T (p.Gln1390Ter) rs2092487764
NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter) rs890465248
NM_001009944.3(PKD1):c.4276_4277delinsA (p.Ala1426fs) rs2092484442
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4328T>G (p.Val1443Gly) rs2092482898
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4461del (p.Ser1488fs) rs1555455998
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=) rs114489044
NM_001009944.3(PKD1):c.4824T>C (p.Asn1608=) rs569136450
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4982A>T (p.Asn1661Ile) rs1440789964
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=) rs144091742
NM_001009944.3(PKD1):c.5047_5051del (p.Phe1683fs) rs2092460746
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter) rs2092456617
NM_001009944.3(PKD1):c.5223G>A (p.Glu1741=) rs779556506
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu) rs577487876
NM_001009944.3(PKD1):c.5301del (p.Thr1768fs) rs2092454886
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.5753C>T (p.Thr1918Ile) rs878915702
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs) rs2092444151
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs) rs2092443264
NM_001009944.3(PKD1):c.5886_5893del (p.Gln1962fs) rs2092440281
NM_001009944.3(PKD1):c.5921T>G (p.Leu1974Arg) rs2092439627
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.6021C>A (p.Tyr2007Ter) rs147391291
NM_001009944.3(PKD1):c.603C>G (p.His201Gln) rs13334842
NM_001009944.3(PKD1):c.603C>T (p.His201=) rs13334842
NM_001009944.3(PKD1):c.6062T>C (p.Leu2021Pro) rs2092435927
NM_001009944.3(PKD1):c.6147_6148del (p.Asn2050fs) rs2092433535
NM_001009944.3(PKD1):c.6179C>G (p.Ala2060Gly) rs753999046
NM_001009944.3(PKD1):c.6197_6209del (p.Leu2066fs) rs2092431000
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6207C>T (p.Gly2069=) rs1478973195
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter) rs1555454512
NM_001009944.3(PKD1):c.6323_6330delinsACTCCTACCT (p.Pro2108fs) rs2092427579
NM_001009944.3(PKD1):c.6323_6334del (p.Pro2108_Glu2111del) rs2092427430
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter) rs762911981
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) rs2092425533
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter) rs2092423837
NM_001009944.3(PKD1):c.6560G>A (p.Trp2187Ter) rs1161210869
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs) rs2092420672
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6588G>A (p.Gln2196=) rs2092420452
NM_001009944.3(PKD1):c.6625G>T (p.Val2209Leu) rs745677305
NM_001009944.3(PKD1):c.6658C>T (p.Arg2220Trp) rs769509393
NM_001009944.3(PKD1):c.6714C>G (p.Asp2238Glu) rs2092416905
NM_001009944.3(PKD1):c.6819C>T (p.Asp2273=) rs372298966
NM_001009944.3(PKD1):c.6826C>G (p.Leu2276Val) rs2092413572
NM_001009944.3(PKD1):c.6831T>A (p.Asp2277Glu) rs2092413339
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg) rs1555454145
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.7023C>T (p.Thr2341=) rs555685116
NM_001009944.3(PKD1):c.7066-10C>G rs776383013
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7265C>A (p.Thr2422Lys) rs1555453210
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=) rs573611925
NM_001009944.3(PKD1):c.7350G>T (p.Val2450=) rs2092342494
NM_001009944.3(PKD1):c.7375G>T (p.Gly2459Cys) rs1555453102
NM_001009944.3(PKD1):c.7421del (p.Gly2474fs) rs1237714286
NM_001009944.3(PKD1):c.7446C>G (p.Gly2482=) rs775215483
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7749del (p.Leu2584fs) rs2092323231
NM_001009944.3(PKD1):c.7804C>T (p.Gln2602Ter) rs2092321430
NM_001009944.3(PKD1):c.7828G>A (p.Glu2610Lys) rs774694720
NM_001009944.3(PKD1):c.7843C>T (p.Leu2615=) rs771676768
NM_001009944.3(PKD1):c.7863+1del rs2092319664
NM_001009944.3(PKD1):c.7864-1G>T rs2092305301
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7973_7974del (p.Val2658fs) rs2092302256
NM_001009944.3(PKD1):c.8016+11C>G rs757750385
NM_001009944.3(PKD1):c.8017-11G>A rs2092264285
NM_001009944.3(PKD1):c.8017-1G>C rs2092263886
NM_001009944.3(PKD1):c.8022del (p.Ser2675fs) rs2092263697
NM_001009944.3(PKD1):c.8087T>C (p.Leu2696Pro) rs201238819
NM_001009944.3(PKD1):c.8087T>G (p.Leu2696Arg) rs201238819
NM_001009944.3(PKD1):c.8091_8093del (p.Ile2697_Leu2698delinsMet) rs2092261350
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter) rs1222094213
NM_001009944.3(PKD1):c.8116_8125del (p.Thr2706fs) rs2092260381
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu) rs1395231369
NM_001009944.3(PKD1):c.8156T>C (p.Ile2719Thr) rs2092259288
NM_001009944.3(PKD1):c.8184C>T (p.Ser2728=) rs772197330
NM_001009944.3(PKD1):c.8200_8204delinsACACT (p.Pro2734_Gln2735delinsThrLeu) rs2092207908
NM_001009944.3(PKD1):c.8207C>G (p.Pro2736Arg) rs760592410
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro) rs145629362
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del) rs1555451280
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8308_8310del (p.Asn2770del) rs2092203060
NM_001009944.3(PKD1):c.8388T>G (p.Tyr2796Ter) rs2092200060
NM_001009944.3(PKD1):c.8405C>T (p.Pro2802Leu) rs534112936
NM_001009944.3(PKD1):c.8423T>A (p.Ile2808Asn) rs1567177764
NM_001009944.3(PKD1):c.8459G>T (p.Ser2820Ile) rs750662535
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.8538C>T (p.Thr2846=) rs774274728
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1]) rs763199524
NM_001009944.3(PKD1):c.8702C>T (p.Pro2901Leu) rs2092181383
NM_001009944.3(PKD1):c.8749del (p.Ala2917fs) rs2092179583
NM_001009944.3(PKD1):c.8836del (p.Leu2946fs) rs2092156841
NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer) rs1555450424
NM_001009944.3(PKD1):c.911G>A (p.Arg304His) rs574313228
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val) rs769436046
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9251G>A (p.Cys3084Tyr) rs2092123424
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile) rs2092053154
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val) rs2092048001
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) rs1596514027
NM_001009944.3(PKD1):c.9585_9591del (p.Trp3195fs) rs2092039663
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9758T>A (p.Leu3253Gln) rs2092025452
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980
NM_138694.4(PKHD1):c.11309A>G (p.Gln3770Arg) rs1770520773
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.1156AAT[1] (p.Asn387del) rs1554218506
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr) rs1554208064
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.4021_4022del (p.Gln1341fs) rs1802068057
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.6442G>T (p.Glu2148Ter) rs1782990176
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.