ClinVar Miner

List of variants studied for Polycystic kidney disease, adult type

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ClinVar version:
Total variants: 1424
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln) rs40433 0.96687
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=) rs35842 0.83599
NM_001009944.3(PKD1):c.8161+21T>C rs4786209 0.64655
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632 0.32172
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960 0.30294
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.8949-17A>G rs9928278 0.26586
NM_001009944.3(PKD1):c.8016+26T>C rs9934488 0.25952
NM_001009944.3(PKD1):c.9195G>C (p.Val3065=) rs9935834 0.25891
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_001009944.3(PKD1):c.9196T>C (p.Phe3066Leu) rs9925969 0.23746
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.8161+38G>A rs57922772 0.17977
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_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) rs34197769 0.09456
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985 0.07036
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_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.1607-27C>T rs4787158 0.04125
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513 0.03937
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03878
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=) rs143916489 0.03762
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.8949-20G>A rs9936029 0.03318
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313 0.03243
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=) rs7194935 0.03183
NM_001009944.3(PKD1):c.8948+17A>G rs9928442 0.03177
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_001009944.3(PKD1):c.10768C>T (p.Leu3590=) rs116114803 0.02380
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_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.7489+30C>T rs142761413 0.01436
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_001009944.3(PKD1):c.8161+29G>A rs375810914 0.01280
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.*15G>A rs77566834 0.01262
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_001009944.3(PKD1):c.11156+13G>A rs142616270 0.01065
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275 0.00989
NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=) rs78509585 0.00982
NM_001009944.3(PKD1):c.7863+13T>C rs115024665 0.00963
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_001009944.3(PKD1):c.10051-25G>A rs150399422 0.00935
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00924
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541 0.00890
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_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787 0.00720
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) rs45478794 0.00702
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_000296.4(PKD1):c.11534+3_11534+5dup rs201204878 0.00559
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_001009944.3(PKD1):c.8017-29C>T rs546456429 0.00521
NM_001009944.3(PKD1):c.2853+23C>T rs183977076 0.00520
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.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830 0.00507
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_001009944.3(PKD1):c.11411+18C>T rs183078730 0.00483
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_001009944.3(PKD1):c.11537+17C>T rs201660914 0.00478
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00448
NM_001009944.3(PKD1):c.7065+21G>A rs9930234 0.00418
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_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.276G>A (p.Ala92=) rs374518168 0.00354
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_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401 0.00289
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_001009944.3(PKD1):c.1385+26C>T rs376973904 0.00267
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met) rs139507058 0.00267
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.3930C>T (p.Asp1310=) rs147850232 0.00226
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp) rs143953714 0.00215
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001009944.3(PKD1):c.8948+11C>T rs147923678 0.00208
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
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.288-21C>T rs187091436 0.00181
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130 0.00178
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121 0.00162
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.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.12816C>T (p.Ser4272=) rs199569478 0.00125
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
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.8161+12C>T rs375283810 0.00113
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943 0.00110
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00109
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037 0.00102
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=) rs141138826 0.00094
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00093
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=) rs144663361 0.00092
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00091
NM_001009944.3(PKD1):c.7210-7C>T rs370411414 0.00091
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=) rs149623670 0.00090
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser) rs200279710 0.00076
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=) rs570750726 0.00073
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00073
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=) rs12102740 0.00073
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=) rs149924232 0.00068
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=) rs373854628 0.00068
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu) rs145922241 0.00067
NM_001009944.3(PKD1):c.9569-11C>T rs188641836 0.00064
NM_001009944.3(PKD1):c.3369C>T (p.Arg1123=) rs143449093 0.00061
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506 0.00061
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001009944.3(PKD1):c.9713-4C>T rs200434097 0.00058
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.11688C>T (p.Gly3896=) rs547262346 0.00054
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met) rs151089809 0.00054
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) rs184394342 0.00051
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
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_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00047
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00045
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=) rs2575316 0.00045
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=) rs148159605 0.00044
NM_001009944.3(PKD1):c.7703+23G>A rs751928868 0.00042
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=) rs768813212 0.00041
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00040
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=) rs181130940 0.00040
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654 0.00039
NM_001009944.3(PKD1):c.4838C>T (p.Ala1613Val) rs150405131 0.00038
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00037
NM_001009944.3(PKD1):c.9678C>T (p.Asn3226=) rs138332867 0.00036
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=) rs373880615 0.00034
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=) rs375408086 0.00033
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.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) rs377436997 0.00031
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=) rs141132307 0.00031
NM_001009944.3(PKD1):c.10221-14C>T rs201207354 0.00029
NM_001009944.3(PKD1):c.4657G>A (p.Val1553Ile) rs200049385 0.00029
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879 0.00029
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp) rs536586062 0.00026
NM_001009944.3(PKD1):c.11156+36C>T rs369188265 0.00024
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131 0.00024
NM_001009944.3(PKD1):c.5457C>T (p.Ala1819=) rs532521117 0.00024
NM_001009944.3(PKD1):c.674C>T (p.Ser225Leu) rs748021456 0.00024
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=) rs376075101 0.00023
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=) rs145648167 0.00023
NM_001009944.3(PKD1):c.10822-8C>G rs9924796 0.00022
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_001009944.3(PKD1):c.288-20G>A rs572319823 0.00021
NM_001009944.3(PKD1):c.9923+35G>T rs376365127 0.00021
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) rs950293866 0.00020
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr) rs201599671 0.00020
NM_001009944.3(PKD1):c.6915+19C>T rs371376951 0.00020
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00020
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860 0.00019
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=) rs759092782 0.00019
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001009944.3(PKD1):c.11412-6C>T rs367775096 0.00018
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=) rs377662680 0.00018
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp) rs746771378 0.00017
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg) rs749291211 0.00017
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=) rs142391112 0.00017
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His) rs375198888 0.00017
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln) rs759950842 0.00016
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=) rs767721989 0.00016
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326 0.00016
NM_001009944.3(PKD1):c.543C>T (p.Val181=) rs1365608859 0.00016
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471 0.00016
NM_001009944.3(PKD1):c.10161C>T (p.His3387=) rs143350197 0.00015
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=) rs530703053 0.00015
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu) rs200646755 0.00015
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=) rs372759889 0.00015
NM_001009944.3(PKD1):c.8176C>T (p.Leu2726=) rs573754849 0.00015
NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val) rs550768338 0.00015
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser) rs146527465 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.8640G>A (p.Ser2880=) rs199988586 0.00014
NM_001009944.3(PKD1):c.10051-29G>A rs763563760 0.00013
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00013
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=) rs183090717 0.00013
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096 0.00013
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys) rs781114712 0.00013
NM_001009944.3(PKD1):c.726T>C (p.Phe242=) rs750727364 0.00013
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=) rs143124196 0.00013
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 0.00012
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498 0.00012
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.288-32A>G rs56205732 0.00011
NM_001009944.3(PKD1):c.359+34G>A rs781038728 0.00011
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=) rs372696163 0.00011
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu) rs201062488 0.00011
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=) rs757969966 0.00011
NM_001009944.3(PKD1):c.9277G>A (p.Ala3093Thr) rs111458906 0.00011
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu) rs147464577 0.00010
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=) rs990065629 0.00010
NM_001009944.3(PKD1):c.1867A>C (p.Ser623Arg) rs750430411 0.00010
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala) rs766549097 0.00010
NM_001009944.3(PKD1):c.3486C>G (p.Asp1162Glu) rs144211349 0.00010
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=) rs772143717 0.00010
NM_001009944.3(PKD1):c.6575C>G (p.Thr2192Ser) rs919229409 0.00010
NM_001009944.3(PKD1):c.7209+24C>T rs755674171 0.00010
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln) rs62038819 0.00010
NM_001009944.3(PKD1):c.8464G>A (p.Val2822Met) rs201289693 0.00010
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_001009944.3(PKD1):c.10168-34G>A rs183682478 0.00009
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) rs201417193 0.00009
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe) rs543561238 0.00009
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=) rs146915755 0.00009
NM_001009944.3(PKD1):c.5960G>A (p.Gly1987Asp) rs527929848 0.00009
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560 0.00009
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln) rs367746233 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338 0.00009
NM_001009944.3(PKD1):c.8716G>A (p.Gly2906Ser) rs376611349 0.00009
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684 0.00009
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001009944.3(PKD1):c.12766G>A (p.Ala4256Thr) rs376769777 0.00008
NM_001009944.3(PKD1):c.8016+7T>C rs746089639 0.00008
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=) rs1159235832 0.00008
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.11713-3C>T rs754015180 0.00007
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=) rs1344519371 0.00007
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser) rs766302578 0.00007
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149 0.00007
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr) rs779342040 0.00007
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys) rs554493059 0.00007
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411 0.00007
NM_001009944.3(PKD1):c.10141C>T (p.Leu3381Phe) rs142799331 0.00006
NM_001009944.3(PKD1):c.10429C>A (p.Leu3477Ile) rs62621452 0.00006
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00006
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val) rs769636582 0.00006
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser) rs376618983 0.00006
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) rs760315179 0.00006
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu) rs151308544 0.00006
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val) rs1353004865 0.00006
NM_001009944.3(PKD1):c.8325G>A (p.Thr2775=) rs540387350 0.00006
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys) rs777608163 0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161 0.00006
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys) rs543328728 0.00006
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=) rs748123570 0.00005
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser) rs752995047 0.00005
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=) rs759043048 0.00005
NM_001009944.3(PKD1):c.7488G>A (p.Thr2496=) rs776604789 0.00005
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys) rs773857360 0.00005
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser) rs886265852 0.00005
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys) rs531854741 0.00005
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=) rs770635587 0.00005
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile) rs754956606 0.00004
NM_001009944.3(PKD1):c.10051-6C>T rs749281950 0.00004
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser) rs781492044 0.00004
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys) rs553106581 0.00004
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg) rs776110243 0.00004
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu) rs761540024 0.00004
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=) rs377661579 0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=) rs142035983 0.00004
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met) rs368161263 0.00004
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala) rs760993331 0.00004
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) rs544092291 0.00004
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro) rs773527738 0.00004
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=) rs556708086 0.00004
NM_001009944.3(PKD1):c.7065+9C>T rs765688834 0.00004
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys) rs754486194 0.00004
NM_001009944.3(PKD1):c.7210-20A>T rs745502224 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys) rs367918229 0.00004
NM_001009944.3(PKD1):c.7767C>T (p.His2589=) rs555499745 0.00004
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val) rs761726794 0.00004
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) rs202086892 0.00004
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=) rs535771951 0.00004
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His) rs1063405 0.00004
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr) rs533152302 0.00004
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_001009944.3(PKD1):c.10239C>T (p.Ser3413=) rs150310430 0.00003
NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp) rs140389000 0.00003
NM_001009944.3(PKD1):c.11157-9C>G rs1191413154 0.00003
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile) rs200120839 0.00003
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp) rs889547396 0.00003
NM_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter) rs764447736 0.00003
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser) rs1320256969 0.00003
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp) rs773426104 0.00003
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn) rs773329559 0.00003
NM_001009944.3(PKD1):c.2986-14G>A rs376382731 0.00003
NM_001009944.3(PKD1):c.3029A>G (p.Asn1010Ser) rs149041162 0.00003
NM_001009944.3(PKD1):c.3168C>T (p.Thr1056=) rs770188395 0.00003
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=) rs781761438 0.00003
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) rs1567200098 0.00003
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser) rs552542784 0.00003
NM_001009944.3(PKD1):c.5132C>T (p.Thr1711Ile) rs750076336 0.00003
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr) rs779607937 0.00003
NM_001009944.3(PKD1):c.5645C>T (p.Thr1882Met) rs772716160 0.00003
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu) rs767363184 0.00003
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071 0.00003
NM_001009944.3(PKD1):c.6771G>A (p.Val2257=) rs770172913 0.00003
NM_001009944.3(PKD1):c.6838G>A (p.Glu2280Lys) rs375782776 0.00003
NM_001009944.3(PKD1):c.7851C>T (p.Thr2617=) rs754620450 0.00003
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062 0.00003
NM_001009944.3(PKD1):c.9313C>T (p.Arg3105Trp) rs1376608198 0.00003
NM_001009944.3(PKD1):c.9814C>T (p.Arg3272Cys) rs143453080 0.00003
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met) rs1459100196 0.00003
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175 0.00003
NM_001009944.3(PKD1):c.12486C>A (p.Pro4162=) rs759210811 0.00002
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365 0.00002
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys) rs765408067 0.00002
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val) rs775988021 0.00002
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys) rs1085307552 0.00002
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=) rs754575596 0.00002
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318 0.00002
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241 0.00002
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys) rs755462601 0.00002
NM_001009944.3(PKD1):c.4513G>A (p.Gly1505Ser) rs1169417989 0.00002
NM_001009944.3(PKD1):c.4826T>C (p.Ile1609Thr) rs753696579 0.00002
NM_001009944.3(PKD1):c.5068G>A (p.Ala1690Thr) rs780133373 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.747C>T (p.Ser249=) rs568816990 0.00002
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly) rs3874655 0.00002
NM_001009944.3(PKD1):c.7703+12C>T rs542748732 0.00002
NM_001009944.3(PKD1):c.8161+4C>T rs766547394 0.00002
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341 0.00002
NM_001009944.3(PKD1):c.8795A>G (p.His2932Arg) rs201524173 0.00002
NM_001009944.3(PKD1):c.8920C>T (p.Arg2974Trp) rs536893844 0.00002
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189 0.00002
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00002
NM_001009944.3(PKD1):c.9713-17C>G rs766238514 0.00002
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys) rs1287231217 0.00001
NM_001009944.3(PKD1):c.10050+10G>C rs746704728 0.00001
NM_001009944.3(PKD1):c.10481C>T (p.Thr3494Met) rs752503970 0.00001
NM_001009944.3(PKD1):c.10826T>C (p.Leu3609Ser) rs776847358 0.00001
NM_001009944.3(PKD1):c.10903G>C (p.Ala3635Pro) rs1166642512 0.00001
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs) rs2091618729 0.00001
NM_001009944.3(PKD1):c.1193C>T (p.Pro398Leu) rs1183794501 0.00001
NM_001009944.3(PKD1):c.11942C>T (p.Ala3981Val) rs1424119004 0.00001
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 0.00001
NM_001009944.3(PKD1):c.12004-17A>G rs749829518 0.00001
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser) rs1363663761 0.00001
NM_001009944.3(PKD1):c.12479C>T (p.Pro4160Leu) rs780598231 0.00001
NM_001009944.3(PKD1):c.12526C>T (p.Pro4176Ser) rs755976712 0.00001
NM_001009944.3(PKD1):c.12559C>T (p.Pro4187Ser) rs778378731 0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031 0.00001
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile) rs928084406 0.00001
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.2854-7C>T rs1234512813 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.2985+14G>A rs2432399 0.00001
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val) rs1393997103 0.00001
NM_001009944.3(PKD1):c.3037G>A (p.Val1013Met) rs1301518884 0.00001
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly) rs751293870 0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser) rs1474271392 0.00001
NM_001009944.3(PKD1):c.4122C>G (p.Ile1374Met) rs757456211 0.00001
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=) rs776410570 0.00001
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter) rs1183899324 0.00001
NM_001009944.3(PKD1):c.4664C>T (p.Ala1555Val) rs758865304 0.00001
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met) rs2575314 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.5080C>T (p.His1694Tyr) rs374424212 0.00001
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207 0.00001
NM_001009944.3(PKD1):c.5284A>G (p.Thr1762Ala) rs369625462 0.00001
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001009944.3(PKD1):c.6313A>G (p.Thr2105Ala) rs1229710301 0.00001
NM_001009944.3(PKD1):c.6356A>G (p.Asp2119Gly) rs755560531 0.00001
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val) rs368987928 0.00001
NM_001009944.3(PKD1):c.6420C>T (p.Thr2140=) rs1321421286 0.00001
NM_001009944.3(PKD1):c.6446C>T (p.Pro2149Leu) rs982097679 0.00001
NM_001009944.3(PKD1):c.6517G>A (p.Val2173Ile) rs749619625 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr) rs749515571 0.00001
NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg) rs1430979320 0.00001
NM_001009944.3(PKD1):c.7777G>A (p.Ala2593Thr) rs760879762 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile) rs566531762 0.00001
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=) rs377029031 0.00001
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu) rs760592410 0.00001
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.8949-4C>T rs956501802 0.00001
NM_001009944.3(PKD1):c.8998C>T (p.Arg3000Cys) rs1279596250 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp) rs1384099162 0.00001
NM_001009944.3(PKD1):c.9688G>C (p.Val3230Leu) rs747054731 0.00001
NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys) rs757771138 0.00001
NM_001009944.3(PKD1):c.9986C>T (p.Ser3329Phe) rs1203304646 0.00001
GRCh37/hg19 16p13.3(chr16:2089477-2135939)
GRCh37/hg19 16p13.3(chr16:2089795-2185919)
GRCh37/hg19 16p13.3(chr16:2092335-2112105)
GRCh37/hg19 16p13.3(chr16:2112698-2118833)
GRCh37/hg19 16p13.3(chr16:2140675-2140809)
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
GRCh37/hg19 16p13.3(chr16:2162341-2203046)
NC_000016.10:g.2092048_2092049dup rs1596482597
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_000297.4(PKD2):c.860T>C (p.Leu287Ser) rs1727413505
NM_001009944.2(PKD1):c.8017_8024delGGGCCCAG
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
NM_001009944.3(PKD1):c.1004_1019del (p.Ala335fs) rs2092667308
NM_001009944.3(PKD1):c.10051-1G>T rs1245329669
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter) rs2151729320
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs) rs1567165997
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
NM_001009944.3(PKD1):c.10163del (p.Ala3388fs) rs1596503384
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter) rs2151728536
NM_001009944.3(PKD1):c.10203dup (p.Leu3402fs)
NM_001009944.3(PKD1):c.10219del (p.Ser3407fs) rs2151728391
NM_001009944.3(PKD1):c.10220+2_10220+3del rs1114167366
NM_001009944.3(PKD1):c.10233G>A (p.Trp3411Ter)
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter) rs2151727019
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs) rs2151726918
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter) rs2151726823
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs) rs2091891993
NM_001009944.3(PKD1):c.10321_10325del (p.Gln3441fs)
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter) rs780009030
NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs) rs2151726623
NM_001009944.3(PKD1):c.10419C>G (p.Ile3473Met) rs2091884870
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile) rs776616291
NM_001009944.3(PKD1):c.10441del (p.Val3481fs) rs2091884240
NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs) rs2151725680
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs) rs2091883381
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg) rs752503970
NM_001009944.3(PKD1):c.10487del (p.Leu3496fs) rs1555448106
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) rs2151710519
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) rs1378307448
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs) rs2151710347
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs) rs2151710316
NM_001009944.3(PKD1):c.10560dup (p.Pro3521fs) rs1555447196
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=) rs745763060
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter) rs1057516041
NM_001009944.3(PKD1):c.10619-13del rs562614426
NM_001009944.3(PKD1):c.10659del (p.Trp3553fs) rs1555447057
NM_001009944.3(PKD1):c.10694T>G (p.Leu3565Arg) rs2091727215
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter) rs1361283193
NM_001009944.3(PKD1):c.10725_10726dup (p.Val3576fs) rs2151708812
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs) rs2151708652
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe) rs2091723749
NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg)
NM_001009944.3(PKD1):c.1078_1088del (p.Glu360fs) rs1555459001
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys) rs2091722550
NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg) rs1057516200
NM_001009944.3(PKD1):c.10820A>T (p.Lys3607Met) rs1555446946
NM_001009944.3(PKD1):c.10821+1G>A rs1596488823
NM_001009944.3(PKD1):c.10821G>C (p.Lys3607Asn) rs2091722144
NM_001009944.3(PKD1):c.10822-1G>C rs2091715597
NM_001009944.3(PKD1):c.10822-2A>G rs2151707926
NM_001009944.3(PKD1):c.10822-30_10852del
NM_001009944.3(PKD1):c.10822-3C>G
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met) rs1428207672
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.10922C>T (p.Ala3641Val) rs2091707606
NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr) rs2091706456
NM_001009944.3(PKD1):c.10946C>A (p.Pro3649His) rs2091706289
NM_001009944.3(PKD1):c.10946C>G (p.Pro3649Arg) rs2091706289
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.1096T>C (p.Ser366Pro) rs2092666416
NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg)
NM_001009944.3(PKD1):c.1097C>G (p.Ser366Trp) rs752356523
NM_001009944.3(PKD1):c.10G>C (p.Ala4Pro)
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11017-25A>C rs2151704874
NM_001009944.3(PKD1):c.11017-25A>G
NM_001009944.3(PKD1):c.11017-47_11022del rs2091672168
NM_001009944.3(PKD1):c.11033del (p.Met3678fs) rs1555446637
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs) rs1596485991
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs) rs2091670117
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter) rs745912756
NM_001009944.3(PKD1):c.11112_11119dup (p.Gln3707fs) rs2151704327
NM_001009944.3(PKD1):c.11116A>G (p.Lys3706Glu) rs2151704349
NM_001009944.3(PKD1):c.11119C>T (p.Gln3707Ter) rs2091668243
NM_001009944.3(PKD1):c.11137dup (p.Ala3713fs) rs1555446582
NM_001009944.3(PKD1):c.11155C>T (p.Arg3719Trp) rs1428669259
NM_001009944.3(PKD1):c.11156+1G>C rs1596485727
NM_001009944.3(PKD1):c.11156+1G>T rs1596485727
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala) rs780574700
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs) rs1567155179
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) rs546924823
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11249G>C (p.Arg3750Pro) rs1327414405
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del) rs1567154953
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11261T>C (p.Leu3754Pro) rs2151701845
NM_001009944.3(PKD1):c.11270-10T>A rs1567154300
NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter) rs369825780
NM_001009944.3(PKD1):c.11289_11299del (p.Gly3764fs) rs2151699891
NM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs) rs2091620612
NM_001009944.3(PKD1):c.112del (p.Leu38fs) rs2092941002
NM_001009944.3(PKD1):c.11304C>T (p.His3768=) rs1596482936
NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs) rs1555446053
NM_001009944.3(PKD1):c.11311_11312dup (p.Ala3772fs) rs2091620763
NM_001009944.3(PKD1):c.11314del (p.Ala3772fs) rs1555446033
NM_001009944.3(PKD1):c.11315_11321del (p.Ala3772fs)
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.1132C>T (p.Gln378Ter)
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs) rs1555445999
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup) rs2091618795
NM_001009944.3(PKD1):c.11341_11343del (p.Tyr3781del) rs2091619119
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp)
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
NM_001009944.3(PKD1):c.11344_11366dup (p.His3789fs)
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val) rs142455071
NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs) rs2091616873
NM_001009944.3(PKD1):c.1136dup (p.Asn379fs) rs2092665918
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter) rs770667157
NM_001009944.3(PKD1):c.11377_11395dup (p.Ala3799fs) rs2091614437
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11411+1G>C rs2091612821
NM_001009944.3(PKD1):c.11411+4A>G
NM_001009944.3(PKD1):c.11411+5G>A
NM_001009944.3(PKD1):c.11412-2A>C rs1555445771
NM_001009944.3(PKD1):c.11412-7C>T rs553377243
NM_001009944.3(PKD1):c.11412-7_11468del
NM_001009944.3(PKD1):c.11416T>G (p.Trp3806Gly) rs2091602155
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11423G>A (p.Trp3808Ter)
NM_001009944.3(PKD1):c.11426dup (p.Ser3810fs) rs2091601824
NM_001009944.3(PKD1):c.11450G>A (p.Gly3817Glu) rs1168911293
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11453del (p.Gly3818fs) rs1567153194
NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs) rs2091600536
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) rs1325300747
NM_001009944.3(PKD1):c.11467_11480del (p.Leu3823fs)
NM_001009944.3(PKD1):c.11488_11489del (p.Ser3830fs)
NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter) rs1286585831
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter) rs199476096
NM_001009944.3(PKD1):c.11519A>C (p.His3840Pro)
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg) rs1057518959
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) rs1596481464
NM_001009944.3(PKD1):c.11537+2T>A rs2151697557
NM_001009944.3(PKD1):c.11538-2A>C
NM_001009944.3(PKD1):c.11538-4G>T rs763279854
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) rs2151695909
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter) rs2091580237
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11565_11571dup (p.Ser3858fs) rs2091579496
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg) rs1555445569
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) rs2091577195
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs) rs2151695526
NM_001009944.3(PKD1):c.11628_11629insA (p.Gly3877fs) rs2091576236
NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs)
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs) rs2151695288
NM_001009944.3(PKD1):c.11649_11662del (p.Ser3884fs) rs1596480112
NM_001009944.3(PKD1):c.11657G>C (p.Arg3886Pro)
NM_001009944.3(PKD1):c.11661del (p.Phe3888fs) rs2151695275
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) rs1251469390
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs) rs2151695024
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11713-3C>A
NM_001009944.3(PKD1):c.11716T>C (p.Cys3906Arg) rs2091502521
NM_001009944.3(PKD1):c.1171dup (p.Ile391fs) rs2092665584
NM_001009944.3(PKD1):c.11722dup (p.Leu3908fs)
NM_001009944.3(PKD1):c.11723T>C (p.Leu3908Pro) rs2151688569
NM_001009944.3(PKD1):c.11725_11740del (p.Leu3909fs) rs2091500917
NM_001009944.3(PKD1):c.11741dup (p.Ala3915fs)
NM_001009944.3(PKD1):c.11744C>T (p.Ala3915Val) rs778893944
NM_001009944.3(PKD1):c.11752G>T (p.Glu3918Ter) rs1555445229
NM_001009944.3(PKD1):c.11765_11790dup (p.Leu3931fs)
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11800_11801del (p.Gly3934fs)
NM_001009944.3(PKD1):c.11858T>C (p.Leu3953Pro) rs1596476599
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.11872G>C (p.Ala3958Pro) rs2091492509
NM_001009944.3(PKD1):c.11875G>C (p.Ala3959Pro) rs756245085
NM_001009944.3(PKD1):c.11881_11981del (p.Arg3961fs)
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) rs1596476503
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.11935C>T (p.Gln3979Ter)
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.11959G>A (p.Ala3987Thr)
NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys) rs747425659
NM_001009944.3(PKD1):c.11984dup (p.Phe3996fs) rs2091483332
NM_001009944.3(PKD1):c.11988_11996del (p.Phe3996_Leu3998del)
NM_001009944.3(PKD1):c.1199del (p.Arg400fs) rs2092665134
NM_001009944.3(PKD1):c.12004-2A>C rs2091475604
NM_001009944.3(PKD1):c.12004-2A>G rs2091475604
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.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
NM_001009944.3(PKD1):c.1202-1G>A rs2151822688
NM_001009944.3(PKD1):c.1202-2A>G rs2092662592
NM_001009944.3(PKD1):c.1202-2A>T rs2092662592
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter) rs1218054241
NM_001009944.3(PKD1):c.12039_12040insAC (p.Val4014fs) rs2091472604
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12070C>T (p.Pro4024Ser) rs771494407
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg) rs767579073
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12138+1G>C rs2151684070
NM_001009944.3(PKD1):c.12138+22del rs199701927
NM_001009944.3(PKD1):c.12139-2A>C rs2091453268
NM_001009944.3(PKD1):c.12143_12144insTT (p.Ser4049fs)
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe) rs186160250
NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter) rs2151682538
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter) rs2091450305
NM_001009944.3(PKD1):c.12205A>G (p.Thr4069Ala)
NM_001009944.3(PKD1):c.12206C>T (p.Thr4069Ile)
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs)
NM_001009944.3(PKD1):c.12217_12221del (p.Thr4073fs) rs1567146946
NM_001009944.3(PKD1):c.12232del (p.Glu4078fs) rs2091446343
NM_001009944.3(PKD1):c.12261T>A (p.Cys4087Ter) rs199476097
NM_001009944.3(PKD1):c.12267del (p.Leu4090fs)
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) rs1060499718
NM_001009944.3(PKD1):c.12326G>T (p.Arg4109Leu)
NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs) rs2091440547
NM_001009944.3(PKD1):c.12334G>C (p.Ala4112Pro)
NM_001009944.3(PKD1):c.12334_12335insGG (p.Ala4112fs)
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs) rs2091440383
NM_001009944.3(PKD1):c.12348del (p.Glu4116fs) rs1596473420
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12381C>A (p.Tyr4127Ter)
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter) rs756212622
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs) rs2151680679
NM_001009944.3(PKD1):c.12386T>G (p.Met4129Arg) rs2091436717
NM_001009944.3(PKD1):c.123_129del (p.Gly44fs)
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.12444+1G>A rs2091431794
NM_001009944.3(PKD1):c.12445-17_12445-3del rs2151678927
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12458T>G (p.Val4153Gly) rs2151678778
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.12490del (p.Arg4164fs) rs1596472276
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs) rs1555444249
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)
NM_001009944.3(PKD1):c.12602_12635del (p.Leu4201fs)
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs) rs2091400717
NM_001009944.3(PKD1):c.12605del (p.Gly4202fs)
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
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.12657dup (p.Glu4220fs) rs2151676915
NM_001009944.3(PKD1):c.1265T>C (p.Leu422Pro) rs2092661241
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del) rs1596588396
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
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.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.1278GGC[1] (p.Ala428del) rs724159824
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=) rs375443308
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)
NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln)
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys) rs777990224
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr) rs2092660647
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.1303C>T (p.Gln435Ter) rs2092660457
NM_001009944.3(PKD1):c.1307G>T (p.Cys436Phe) rs2092660360
NM_001009944.3(PKD1):c.1309C>T (p.Gln437Ter) rs2151822408
NM_001009944.3(PKD1):c.1326del (p.Ala443fs) rs2151822381
NM_001009944.3(PKD1):c.1347_1356delinsAC (p.Ser449fs) rs1567216323
NM_001009944.3(PKD1):c.1385+1G>T
NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys) rs2092659023
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs)
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.1404C>G (p.Ile468Met) rs755150845
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1429G>T (p.Glu477Ter)
NM_001009944.3(PKD1):c.1491del (p.Glu499fs)
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs) rs2151820655
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1543G>T (p.Gly515Trp) rs1555458704
NM_001009944.3(PKD1):c.1544G>T (p.Gly515Val) rs2092647090
NM_001009944.3(PKD1):c.1548G>A (p.Trp516Ter) rs2151820663
NM_001009944.3(PKD1):c.1558G>A (p.Asp520Asn)
NM_001009944.3(PKD1):c.1584C>A (p.Tyr528Ter) rs1401015526
NM_001009944.3(PKD1):c.1606+1G>A rs2151820539
NM_001009944.3(PKD1):c.1606+5G>A rs2092646077
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs) rs3072277
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1630CTC[1] (p.Leu545del) rs1596585121
NM_001009944.3(PKD1):c.1654del (p.Asp552fs) rs2151819777
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter)
NM_001009944.3(PKD1):c.1669dup (p.Leu557fs) rs2092640687
NM_001009944.3(PKD1):c.1700C>G (p.Ser567Ter) rs765817015
NM_001009944.3(PKD1):c.1722+1G>T rs1567214706
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.1723-1G>C rs1596582948
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser) rs1596582702
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter) rs2092629130
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+1G>T rs2092628618
NM_001009944.3(PKD1):c.1849+21_1849+34del rs56173969
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp) rs763213387
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter) rs1348307652
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)
NM_001009944.3(PKD1):c.1931del (p.Gly644fs) rs1596580483
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
NM_001009944.3(PKD1):c.2032del (p.Ala678fs) rs2092615974
NM_001009944.3(PKD1):c.2037del (p.Tyr680fs)
NM_001009944.3(PKD1):c.2038T>G (p.Tyr680Asp) rs2151816239
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter) rs1174034883
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs) rs2151816205
NM_001009944.3(PKD1):c.2078_2089dup (p.Ala696_Gln697insArgProProAla) rs2092614761
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001009944.3(PKD1):c.2081C>T (p.Pro694Leu)
NM_001009944.3(PKD1):c.2085del (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2089C>T (p.Gln697Ter) rs2151816083
NM_001009944.3(PKD1):c.2095T>C (p.Ser699Pro)
NM_001009944.3(PKD1):c.2097+1G>A rs2151816064
NM_001009944.3(PKD1):c.2097+2T>C rs2092614697
NM_001009944.3(PKD1):c.2097+5G>A rs2092614616
NM_001009944.3(PKD1):c.2101_2102dup (p.Leu702fs) rs2092604612
NM_001009944.3(PKD1):c.2102C>A (p.Thr701Asn) rs1456789343
NM_001009944.3(PKD1):c.2105T>G (p.Leu702Arg) rs1596577674
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln) rs527655141
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter) rs2092604224
NM_001009944.3(PKD1):c.2139C>A (p.Asp713Glu)
NM_001009944.3(PKD1):c.215+2_215+3del rs2092939625
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.215T>A (p.Leu72Gln) rs1596636573
NM_001009944.3(PKD1):c.216-38G>A rs3874659
NM_001009944.3(PKD1):c.216-8C>G
NM_001009944.3(PKD1):c.2170G>T (p.Gly724Cys)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.218A>G (p.Asp73Gly) rs2151826654
NM_001009944.3(PKD1):c.2239G>A (p.Ala747Thr)
NM_001009944.3(PKD1):c.2279G>T (p.Gly760Val)
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs) rs2092600549
NM_001009944.3(PKD1):c.2396_2421del (p.Arg799fs) rs2092598385
NM_001009944.3(PKD1):c.2421C>G (p.Ser807=) rs2092598341
NM_001009944.3(PKD1):c.2492C>A (p.Pro831His)
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter) rs199476100
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.2542C>T (p.Gln848Ter) rs2092595963
NM_001009944.3(PKD1):c.2545G>A (p.Val849Met)
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.2659del (p.Trp887fs) rs2092593850
NM_001009944.3(PKD1):c.2667dup (p.Asn890fs) rs2092593686
NM_001009944.3(PKD1):c.2674del (p.Thr892fs)
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs) rs1567210080
NM_001009944.3(PKD1):c.2688_2698del (p.Leu899fs)
NM_001009944.3(PKD1):c.2699C>T (p.Pro900Leu)
NM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter) rs2092592999
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter) rs2151812964
NM_001009944.3(PKD1):c.2720ACGTGGTGG[3] (p.Asp910_Val912dup) rs2092591934
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter) rs1339097856
NM_001009944.3(PKD1):c.2784_2796del (p.Glu929fs)
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs) rs1596574774
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.2865dup (p.Val956fs)
NM_001009944.3(PKD1):c.2877_2880del (p.Gly960fs) rs2151809215
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.288-2A>G rs2092684358
NM_001009944.3(PKD1):c.290A>G (p.Asp97Gly) rs2092684310
NM_001009944.3(PKD1):c.2914A>G (p.Lys972Glu) rs2092566273
NM_001009944.3(PKD1):c.2930T>A (p.Phe977Tyr) rs1596570459
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.2952_2955del (p.Tyr986fs)
NM_001009944.3(PKD1):c.2962_2985+1del
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=) rs1324429294
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp) rs2092684149
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.303C>A (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter) rs753261451
NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter) rs2092555939
NM_001009944.3(PKD1):c.3071delinsCCC (p.Val1024fs) rs1567206904
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu) rs724159822
NM_001009944.3(PKD1):c.313A>T (p.Thr105Ser)
NM_001009944.3(PKD1):c.3161+1G>C
NM_001009944.3(PKD1):c.3161+5G>A rs2092552533
NM_001009944.3(PKD1):c.3161+5G>C
NM_001009944.3(PKD1):c.3162-1G>A
NM_001009944.3(PKD1):c.3162-1G>C
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3184C>T (p.Gln1062Ter) rs1231492796
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3205_3235del (p.Pro1069fs) rs2092538008
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser) rs2092538545
NM_001009944.3(PKD1):c.3218del (p.Glu1073fs)
NM_001009944.3(PKD1):c.322G>T (p.Glu108Ter) rs1416011785
NM_001009944.3(PKD1):c.3250C>T (p.Gln1084Ter) rs1373028227
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs) rs1596566156
NM_001009944.3(PKD1):c.3283_3285del (p.Tyr1095del) rs2092536449
NM_001009944.3(PKD1):c.3295+1G>T rs2092536130
NM_001009944.3(PKD1):c.3296-1G>A rs1567204631
NM_001009944.3(PKD1):c.3308T>G (p.Leu1103Arg) rs2151801930
NM_001009944.3(PKD1):c.330del (p.Phe111fs) rs2151826084
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter) rs755084885
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del) rs1060499705
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3441C>A (p.Tyr1147Ter)
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=) rs151026121
NM_001009944.3(PKD1):c.3482G>A (p.Trp1161Ter) rs1205064584
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys) rs1483748105
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3503dup (p.Val1169fs) rs1555456661
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter) rs1057516206
NM_001009944.3(PKD1):c.359+2T>G rs2092683440
NM_001009944.3(PKD1):c.359+5G>A rs2092683412
NM_001009944.3(PKD1):c.3597_3601dup (p.Ala1201fs) rs2151800732
NM_001009944.3(PKD1):c.3599C>G (p.Ala1200Gly)
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter) rs2092506242
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val) rs139100448
NM_001009944.3(PKD1):c.3684del (p.Val1229fs) rs2092503653
NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del) rs2092503169
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3729G>A (p.Trp1243Ter) rs2092501936
NM_001009944.3(PKD1):c.3777_3778del (p.Val1260fs)
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.380T>G (p.Phe127Cys) rs2092679766
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
NM_001009944.3(PKD1):c.3850del (p.Ala1284fs) rs1567202350
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter) rs780119305
NM_001009944.3(PKD1):c.3893G>A (p.Arg1298His)
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro) rs2092941758
NM_001009944.3(PKD1):c.3902C>G (p.Pro1301Arg)
NM_001009944.3(PKD1):c.3902C>T (p.Pro1301Leu)
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs) rs2151799399
NM_001009944.3(PKD1):c.3944C>A (p.Ala1315Asp)
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser) rs2092493397
NM_001009944.3(PKD1):c.3984G>C (p.Trp1328Cys) rs2151799171
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs) rs2092491511
NM_001009944.3(PKD1):c.4047C>G (p.Phe1349Leu) rs770459654
NM_001009944.3(PKD1):c.404G>A (p.Trp135Ter) rs1567219111
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys) rs2092679535
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.407T>A (p.Leu136Gln)
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro) rs2092490160
NM_001009944.3(PKD1):c.4101_4118del (p.Arg1367_Thr1372del) rs2092489106
NM_001009944.3(PKD1):c.4103C>T (p.Ala1368Val)
NM_001009944.3(PKD1):c.4105dup (p.His1369fs)
NM_001009944.3(PKD1):c.4121T>A (p.Ile1374Asn)
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly) rs149210297
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.417G>C (p.Trp139Cys)
NM_001009944.3(PKD1):c.4214G>A (p.Trp1405Ter) rs2151798372
NM_001009944.3(PKD1):c.4217_4220dup (p.Phe1408fs) rs754820795
NM_001009944.3(PKD1):c.4222_4232dup (p.Tyr1412fs) rs2092485909
NM_001009944.3(PKD1):c.4241G>C (p.Trp1414Ser) rs2151798259
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs) rs34495017
NM_001009944.3(PKD1):c.4264del (p.Ala1422fs)
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4379T>G (p.Val1460Gly) rs2151797664
NM_001009944.3(PKD1):c.4394C>T (p.Pro1465Leu)
NM_001009944.3(PKD1):c.439dup (p.Val147fs) rs2092679105
NM_001009944.3(PKD1):c.4419del (p.Asn1474fs) rs2151797547
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4451C>T (p.Pro1484Leu)
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4452del (p.Tyr1485fs) rs2092479999
NM_001009944.3(PKD1):c.445del (p.Gln149fs) rs796052133
NM_001009944.3(PKD1):c.4485dup (p.Ala1496fs) rs2092478837
NM_001009944.3(PKD1):c.4500G>C (p.Trp1500Cys)
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg) rs2092478372
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.4544A>C (p.His1515Pro) rs2092477293
NM_001009944.3(PKD1):c.4550dup (p.Tyr1517Ter) rs2092477162
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4572_4574del (p.Val1525del)
NM_001009944.3(PKD1):c.4586G>A (p.Gly1529Asp) rs2151797032
NM_001009944.3(PKD1):c.458C>A (p.Ala153Asp) rs2092678870
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.4617G>A (p.Trp1539Ter) rs2151796950
NM_001009944.3(PKD1):c.4625T>G (p.Val1542Gly) rs2092475450
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs)
NM_001009944.3(PKD1):c.4651del (p.Leu1551fs)
NM_001009944.3(PKD1):c.4654del (p.Val1552fs) rs2047525622
NM_001009944.3(PKD1):c.4661A>G (p.Asn1554Ser)
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=) rs114489044
NM_001009944.3(PKD1):c.4709del (p.Thr1570fs) rs1555455797
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs) rs2151796475
NM_001009944.3(PKD1):c.4781G>T (p.Gly1594Val)
NM_001009944.3(PKD1):c.4782del (p.Pro1595fs) rs2092471431
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4832_4836dup (p.Ala1613fs) rs1596557533
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.3(PKD1):c.4895_4896del (p.Ile1632fs)
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)
NM_001009944.3(PKD1):c.491del (p.Gln164fs) rs2151825169
NM_001009944.3(PKD1):c.4929C>G (p.Tyr1643Ter) rs752948922
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del) rs1596556896
NM_001009944.3(PKD1):c.4995del (p.Trp1666fs) rs2151795458
NM_001009944.3(PKD1):c.499del (p.Gly168fs) rs2151825150
NM_001009944.3(PKD1):c.5021del (p.Pro1674fs) rs1555455453
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=) rs144091742
NM_001009944.3(PKD1):c.5080del (p.His1694fs) rs2092460002
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5108T>C (p.Leu1703Pro) rs1596556474
NM_001009944.3(PKD1):c.5115del (p.Ser1705fs)
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.5142del (p.Phe1714fs) rs2092458566
NM_001009944.3(PKD1):c.5155G>C (p.Gly1719Arg)
NM_001009944.3(PKD1):c.5254T>C (p.Trp1752Arg) rs2151794130
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.5290G>T (p.Glu1764Ter) rs753749502
NM_001009944.3(PKD1):c.5364del (p.Ser1789fs)
NM_001009944.3(PKD1):c.5366C>G (p.Ser1789Ter) rs1377414968
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter) rs2092452489
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter)
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser) rs2151792963
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.5570C>T (p.Pro1857Leu)
NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter) rs1567196052
NM_001009944.3(PKD1):c.5637C>A (p.Tyr1879Ter) rs2092447380
NM_001009944.3(PKD1):c.5639A>T (p.Asn1880Ile)
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) rs1304952446
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter) rs2151792059
NM_001009944.3(PKD1):c.5722C>T (p.Gln1908Ter) rs2151791889
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs) rs2092444151
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.5804G>C (p.Arg1935Pro) rs770331568
NM_001009944.3(PKD1):c.5809del (p.Ser1937fs) rs1555454915
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter) rs200001471
NM_001009944.3(PKD1):c.5848G>A (p.Val1950Met) rs771669643
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.5856del (p.Asn1954fs) rs2151791178
NM_001009944.3(PKD1):c.5866G>T (p.Val1956Leu) rs781454286
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.5890del (p.Arg1964fs) rs2092440406
NM_001009944.3(PKD1):c.5921del (p.Leu1974fs) rs1596553527
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5936_5949del (p.Cys1979fs)
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr) rs771005067
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.5987T>G (p.Val1996Gly) rs1596553257
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.601dup (p.His201fs) rs2151824362
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.603C>G (p.His201Gln) rs13334842
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter) rs2151790199
NM_001009944.3(PKD1):c.6077T>A (p.Val2026Asp)
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)
NM_001009944.3(PKD1):c.6124G>C (p.Ala2042Pro) rs556681288
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs) rs2092433875
NM_001009944.3(PKD1):c.6164dup (p.Glu2056fs) rs2151789587
NM_001009944.3(PKD1):c.616C>T (p.Gln206Ter)
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.6219C>T (p.Thr2073=) rs886038370
NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter) rs2151788870
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser) rs1596552090
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs) rs2151824295
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly) rs2151788839
NM_001009944.3(PKD1):c.6299C>A (p.Ser2100Ter) rs539793378
NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr) rs2092673697
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro) rs1596551934
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter) rs762911981
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp) rs2151788281
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys) rs1247882278
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) rs2092425533
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr) rs1596590574
NM_001009944.3(PKD1):c.6420del (p.Val2141fs)
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter) rs2151788037
NM_001009944.3(PKD1):c.6424del (p.Gln2142fs) rs1060499702
NM_001009944.3(PKD1):c.6440_6467del (p.Arg2147fs) rs1567192790
NM_001009944.3(PKD1):c.6483dup (p.Arg2162fs) rs1334651902
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter) rs1485307916
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp) rs2151787670
NM_001009944.3(PKD1):c.6512C>A (p.Ala2171Asp)
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.655C>T (p.Gln219Ter) rs2092673393
NM_001009944.3(PKD1):c.6561G>T (p.Trp2187Cys)
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs) rs1596551138
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter) rs1567192286
NM_001009944.3(PKD1):c.659del (p.Gly220fs) rs2151824233
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6657_6671dup (p.Arg2220_Pro2224dup) rs2151786683
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu) rs1567218284
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)
NM_001009944.3(PKD1):c.6701T>A (p.Val2234Glu) rs2092417183
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6729G>T (p.Gln2243His) rs1473861956
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6739G>C (p.Ala2247Pro) rs749515571
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu) rs1555454223
NM_001009944.3(PKD1):c.6747_6750delinsCA (p.Thr2250fs)
NM_001009944.3(PKD1):c.6749_6750del (p.Thr2250fs)
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.678G>A (p.Glu226=) rs2092673013
NM_001009944.3(PKD1):c.6792A>C (p.Ser2264=) rs142928249
NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
NM_001009944.3(PKD1):c.6813dup (p.Arg2272fs) rs2151785975
NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter) rs546354639
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter) rs755591790
NM_001009944.3(PKD1):c.6883dup (p.Ser2295fs) rs2151785622
NM_001009944.3(PKD1):c.6913_6914del (p.Gln2305fs) rs1555454075
NM_001009944.3(PKD1):c.6915+27A>C rs560681737
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg) rs2151824152
NM_001009944.3(PKD1):c.695G>C (p.Cys232Ser)
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp) rs1114167370
NM_001009944.3(PKD1):c.6982G>T (p.Glu2328Ter) rs2151783909
NM_001009944.3(PKD1):c.6987_6988insATGGCGG (p.Leu2330fs)
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7005G>C (p.Glu2335Asp) rs2092401473
NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys) rs2151783812
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter) rs2092401442
NM_001009944.3(PKD1):c.7010C>A (p.Thr2337Asn) rs1060499713
NM_001009944.3(PKD1):c.7013T>G (p.Phe2338Cys)
NM_001009944.3(PKD1):c.7045G>T (p.Glu2349Ter)
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs) rs1596548114
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter) rs2092400157
NM_001009944.3(PKD1):c.7061A>C (p.Gln2354Pro) rs2092400132
NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro) rs2092400099
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001009944.3(PKD1):c.7066-1G>C
NM_001009944.3(PKD1):c.707del (p.Gln236fs) rs2092672656
NM_001009944.3(PKD1):c.7104_7118del (p.Leu2368_Cys2373delinsPhe)
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)
NM_001009944.3(PKD1):c.711del (p.Ser238fs) rs2092672595
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs) rs2092356759
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7209_7209+1delinsTT
NM_001009944.3(PKD1):c.7214G>A (p.Trp2405Ter) rs1555453244
NM_001009944.3(PKD1):c.7215G>T (p.Trp2405Cys) rs2092347343
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met) rs1446061270
NM_001009944.3(PKD1):c.7249dup (p.Leu2417fs) rs2092345946
NM_001009944.3(PKD1):c.7252del (p.Asp2418fs)
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr) rs1555453207
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg) rs1367567191
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln) rs2092344562
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7301_7312dup (p.Arg2434_Val2437dup) rs2092343785
NM_001009944.3(PKD1):c.7303_7317del (p.Arg2435_Arg2439del) rs2092343570
NM_001009944.3(PKD1):c.7313T>C (p.Leu2438Pro)
NM_001009944.3(PKD1):c.7324G>A (p.Glu2442Lys)
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.7356_7357insATACACCTTCACGCTCACGGTGCTGGG (p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGly)
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del) rs1391744174
NM_001009944.3(PKD1):c.7369G>T (p.Glu2457Ter) rs2092341848
NM_001009944.3(PKD1):c.7381G>A (p.Ala2461Thr)
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys)
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu) rs539143745
NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter) rs1453883641
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys)
NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr)
NM_001009944.3(PKD1):c.7487C>T (p.Thr2496Met)
NM_001009944.3(PKD1):c.7495del (p.His2499fs) rs2092333316
NM_001009944.3(PKD1):c.7499A>T (p.Asp2500Val) rs1596540533
NM_001009944.3(PKD1):c.7535T>G (p.Leu2512Arg) rs2151772458
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly) rs797044902
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His) rs781066020
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7638dup (p.Phe2547fs)
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter) rs28369051
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly) rs2092327341
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys) rs2092327300
NM_001009944.3(PKD1):c.7704-1G>A
NM_001009944.3(PKD1):c.7704-4G>T rs778212840
NM_001009944.3(PKD1):c.7712C>T (p.Ala2571Val) rs756838066
NM_001009944.3(PKD1):c.7796T>G (p.Leu2599Arg) rs2092321685
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter) rs2092321142
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter) rs138871063
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter) rs762003393
NM_001009944.3(PKD1):c.7863+5G>C rs2092319525
NM_001009944.3(PKD1):c.7867G>A (p.Glu2623Lys) rs2092305182
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter) rs778979740
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs) rs1555452400
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7949T>C (p.Leu2650Pro)
NM_001009944.3(PKD1):c.7951del (p.Val2651fs) rs2151766847
NM_001009944.3(PKD1):c.7957_7958del (p.Leu2653fs) rs2151766800
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.7989del (p.Ile2664fs) rs2151766664
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) rs2092301272
NM_001009944.3(PKD1):c.8016+1G>A
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8017-1G>C rs2092263886
NM_001009944.3(PKD1):c.8017-2A>G rs1567180640
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile) rs1269793804
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs) rs2092262890
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter) rs151308544
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter) rs377029031
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter) rs779516086
NM_001009944.3(PKD1):c.8072T>A (p.Leu2691Gln)
NM_001009944.3(PKD1):c.8072T>G (p.Leu2691Arg)
NM_001009944.3(PKD1):c.8087T>C (p.Leu2696Pro) rs201238819
NM_001009944.3(PKD1):c.8098G>A (p.Ala2700Thr)
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu) rs1395231369
NM_001009944.3(PKD1):c.8161+1G>T
NM_001009944.3(PKD1):c.8161+40G>A rs2092255350
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8162-2A>G rs2092209753
NM_001009944.3(PKD1):c.81del (p.Arg28fs)
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys) rs202159463
NM_001009944.3(PKD1):c.8234_8235insCGTCACCATC (p.Arg2746fs) rs2092206577
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs) rs1596527579
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter) rs2092205600
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer) rs2151756041
NM_001009944.3(PKD1):c.8267C>T (p.Thr2756Ile)
NM_001009944.3(PKD1):c.8272G>C (p.Ala2758Pro) rs2092204988
NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro)
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.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
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.8299dup (p.Arg2767fs) rs2151755878
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu) rs1456510041
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs) rs2092202856
NM_001009944.3(PKD1):c.8320del (p.Pro2773_Leu2774insTer) rs2092202749
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs) rs1567178000
NM_001009944.3(PKD1):c.8378T>A (p.Leu2793Gln) rs2151755543
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro) rs1596527065
NM_001009944.3(PKD1):c.8427_8446dup (p.Leu2816fs)
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=) rs886038371
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)
NM_001009944.3(PKD1):c.8480_8481insCT (p.Leu2828fs)
NM_001009944.3(PKD1):c.8499delinsAAAG (p.Pro2833_Phe2834insLys) rs1596526681
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8593C>T (p.Arg2865Trp)
NM_001009944.3(PKD1):c.8606_8607del (p.Glu2869fs)
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro) rs556305338
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1]) rs763199524
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs) rs2151754069
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs) rs1596525695
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu)
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.8769G>C (p.Gln2923His)
NM_001009944.3(PKD1):c.8791+13G>A rs150064577
NM_001009944.3(PKD1):c.8791+1G>A rs2092177236
NM_001009944.3(PKD1):c.8791+5G>A rs751652400
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys) rs2151752267
NM_001009944.3(PKD1):c.8827G>T (p.Ala2943Ser) rs1440626571
NM_001009944.3(PKD1):c.8839del (p.His2947fs)
NM_001009944.3(PKD1):c.8851C>T (p.Arg2951Trp)
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.8897_8898del (p.Glu2966fs) rs2092154654
NM_001009944.3(PKD1):c.8900C>G (p.Ser2967Ter)
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg) rs757527492
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.8945del (p.Pro2982fs) rs2092151870
NM_001009944.3(PKD1):c.8948+12G>A rs369347070
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter) rs1567174997
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter) rs1596522636
NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs) rs1555450475
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.89G>A (p.Cys30Tyr) rs2092941343
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro) rs2151750096
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg) rs2151750082
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
NM_001009944.3(PKD1):c.9077G>A (p.Arg3026Gln)
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)
NM_001009944.3(PKD1):c.9119A>C (p.Gln3040Pro) rs2092136027
NM_001009944.3(PKD1):c.9143T>G (p.Leu3048Arg) rs1596522098
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val) rs769436046
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9201+1G>A rs2151749304
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9202-1G>A rs2151748829
NM_001009944.3(PKD1):c.9217dup (p.Val3073fs)
NM_001009944.3(PKD1):c.9239C>G (p.Thr3080Arg) rs1322954391
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
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.9331T>A (p.Phe3111Ile) rs767845814
NM_001009944.3(PKD1):c.9355A>T (p.Lys3119Ter)
NM_001009944.3(PKD1):c.9365T>G (p.Ile3122Ser) rs2092119998
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9382T>A (p.Trp3128Arg)
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)
NM_001009944.3(PKD1):c.9386del (p.Gly3129fs)
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9397+3G>C rs1555450109
NM_001009944.3(PKD1):c.9397G>T (p.Gly3133Cys)
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.9412G>T (p.Val3138Leu) rs1358566538
NM_001009944.3(PKD1):c.9415G>A (p.Gly3139Ser) rs1165123201
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9428_9430dup (p.Tyr3143_Gly3144insAsp) rs2151742372
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9443G>A (p.Arg3148Gln)
NM_001009944.3(PKD1):c.9445A>C (p.Ser3149Arg)
NM_001009944.3(PKD1):c.9454C>G (p.Arg3152Gly) rs776866974
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.9486dup (p.Asn3163fs) rs2092049440
NM_001009944.3(PKD1):c.9494T>C (p.Leu3165Pro) rs1555449597
NM_001009944.3(PKD1):c.9502T>G (p.Phe3168Val) rs2151742081
NM_001009944.3(PKD1):c.9513del (p.Thr3172fs)
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001009944.3(PKD1):c.9530G>A (p.Gly3177Asp)
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.9559G>T (p.Asp3187Tyr)
NM_001009944.3(PKD1):c.9559_9561del (p.Asp3187del)
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9568+1G>C rs2092046394
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9575G>T (p.Ser3192Ile) rs2092040135
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter)
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) rs1596514027
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter) rs1474701377
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe) rs1422698524
NM_001009944.3(PKD1):c.9601_9603del (p.Ile3201del) rs1394021424
NM_001009944.3(PKD1):c.9602_9607del (p.Ile3201_Val3202del)
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala) rs1596513913
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) rs1085307551
NM_001009944.3(PKD1):c.9637T>A (p.Phe3213Ile) rs2151740841
NM_001009944.3(PKD1):c.9656_9674del (p.Leu3219fs) rs2092035920
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter) rs2151740638
NM_001009944.3(PKD1):c.9694A>G (p.Lys3232Glu) rs2092034761
NM_001009944.3(PKD1):c.9712+40G>A rs2092031694
NM_001009944.3(PKD1):c.9726_9727insA (p.Leu3243fs) rs2151739862
NM_001009944.3(PKD1):c.9736del (p.Arg3246fs) rs2092026801
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.9788G>C (p.Trp3263Ser) rs1555449378
NM_001009944.3(PKD1):c.9827C>T (p.Thr3276Ile)
NM_001009944.3(PKD1):c.9841del (p.Ala3281fs) rs2092021706
NM_001009944.3(PKD1):c.9847T>C (p.Cys3283Arg) rs2092021242
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9867C>A (p.Cys3289Ter) rs1420757773
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
NM_001009944.3(PKD1):c.9881C>A (p.Ala3294Asp) rs1596512512
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs) rs1567169638
NM_001009944.3(PKD1):c.9924-1G>C rs2151738493
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487
NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs) rs796053523
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980
NM_001009944.3(PKD1):c.99C>A (p.Cys33Ter) rs2092941253
NM_001009944.3(PKD1):c.[7735_7737del;7972_7979del]
NM_001009944.3(PKD1):c.[8279T>C;8282G>C8291T>C]
NM_001009944.3:c.(287+1_288-1)_(12003+1_12004-1)del
NM_002335.4(LRP5):c.3468G>C (p.Gln1156His) rs724159825
NM_014270.5(SLC7A9):c.1297C>T (p.Pro433Ser)
NM_024740.2(ALG9):c.681G>A (p.Trp227Ter) rs1592341222
Single allele

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