|
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_001009944.3(PKD1):c.11537+3_11537+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.3380C>T (p.Pro1127Leu)
|
rs145922241
|
0.00078
|
|
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.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.10397C>T (p.Ser3466Leu)
|
rs147464577
|
0.00026
|
|
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.9548G>A (p.Arg3183Gln)
|
rs79648977
|
0.00020
|
|
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=)
|
rs376838860
|
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.1602C>T (p.Pro534=)
|
rs759092782
|
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.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.7340C>T (p.Thr2447Met)
|
rs760315179
|
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.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.726T>C (p.Phe242=)
|
rs750727364
|
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.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.8046G>A (p.Ser2682=)
|
rs142391112
|
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.7289G>A (p.Arg2430Gln)
|
rs62038819
|
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.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.7039C>T (p.Arg2347Cys)
|
rs781114712
|
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.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.6771G>A (p.Val2257=)
|
rs770172913
|
0.00001
|
|
NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg)
|
rs1430979320
|
0.00001
|
|
NM_001009944.3(PKD1):c.7775C>T (p.Thr2592Ile)
|
rs1458197743
|
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.8300G>A (p.Arg2767His)
|
rs770080914
|
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.8497C>T (p.Pro2833Ser)
|
rs1057523051
|
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.(2160720_2160721)_(2164927_2165378)del
|
|
|
|
NC_000016.9:g.(?_2138708)_(2150568_2152061)del
|
|
|
|
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.10012dup (p.Leu3338fs)
|
|
|
|
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.10260_10279delinsAGCAGGT (p.Trp3420_Pro3427delinsTer)
|
|
|
|
NM_001009944.3(PKD1):c.10261_10264del (p.Pro3421fs)
|
|
|
|
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs)
|
rs2151726918
|
|
|
NM_001009944.3(PKD1):c.10289_10305dup (p.Gln3436fs)
|
|
|
|
NM_001009944.3(PKD1):c.10290G>A (p.Val3430=)
|
|
|
|
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)
|
rs2151726823
|
|
|
NM_001009944.3(PKD1):c.10307_10329del (p.Gln3436fs)
|
|
|
|
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs)
|
rs2091891993
|
|
|
NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter)
|
|
|
|
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.10405+1G>T
|
|
|
|
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.10423C>T (p.Gln3475Ter)
|
|
|
|
NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile)
|
rs776616291
|
|
|
NM_001009944.3(PKD1):c.10441del (p.Val3481fs)
|
rs2091884240
|
|
|
NM_001009944.3(PKD1):c.10441dup (p.Val3481fs)
|
|
|
|
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.10524_10525insT (p.Glu3509Ter)
|
|
|
|
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.10563_10567del (p.Ser3523fs)
|
|
|
|
NM_001009944.3(PKD1):c.10573_10594dup (p.Gln3532fs)
|
|
|
|
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.10594dup (p.Gln3532fs)
|
|
|
|
NM_001009944.3(PKD1):c.10615_10618+1del
|
|
|
|
NM_001009944.3(PKD1):c.10618+2T>C
|
|
|
|
NM_001009944.3(PKD1):c.10619-13del
|
rs562614426
|
|
|
NM_001009944.3(PKD1):c.10619-2A>G
|
|
|
|
NM_001009944.3(PKD1):c.10659del (p.Trp3553fs)
|
rs1555447057
|
|
|
NM_001009944.3(PKD1):c.10670T>G (p.Leu3557Arg)
|
|
|
|
NM_001009944.3(PKD1):c.10694T>G (p.Leu3565Arg)
|
rs2091727215
|
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[1] (p.3567AV[1])
|
|
|
|
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.10711dup (p.Ala3571fs)
|
|
|
|
NM_001009944.3(PKD1):c.10720G>C (p.Gly3574Arg)
|
|
|
|
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.10771T>C (p.Ser3591Pro)
|
|
|
|
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.10802T>G (p.Leu3601Arg)
|
|
|
|
NM_001009944.3(PKD1):c.10803_10807del (p.Trp3603fs)
|
|
|
|
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.10846_10847dup (p.Leu3617fs)
|
|
|
|
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met)
|
rs1428207672
|
|
|
NM_001009944.3(PKD1):c.1087T>G (p.Cys363Gly)
|
|
|
|
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.10943C>T (p.Pro3648Leu)
|
|
|
|
NM_001009944.3(PKD1):c.10945C>T (p.Pro3649Ser)
|
|
|
|
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.10961_10982del (p.Leu3654fs)
|
|
|
|
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs)
|
|
|
|
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.11002_11003dup (p.Gly3669fs)
|
|
|
|
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.11023del (p.Leu3675fs)
|
|
|
|
NM_001009944.3(PKD1):c.11033del (p.Met3678fs)
|
rs1555446637
|
|
|
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs)
|
rs1596485991
|
|
|
NM_001009944.3(PKD1):c.11057T>G (p.Leu3686Arg)
|
|
|
|
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs)
|
rs2091670117
|
|
|
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter)
|
rs745912756
|
|
|
NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys)
|
|
|
|
NM_001009944.3(PKD1):c.11102T>C (p.Leu3701Pro)
|
|
|
|
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.11150T>G (p.Ile3717Ser)
|
|
|
|
NM_001009944.3(PKD1):c.11152_11153del (p.Thr3718fs)
|
|
|
|
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.11172G>C (p.Trp3724Cys)
|
rs866331895
|
|
|
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)
|
rs1555446411
|
|
|
NM_001009944.3(PKD1):c.1118_1119delinsGT (p.Leu373Arg)
|
|
|
|
NM_001009944.3(PKD1):c.11192_11193delinsCT (p.Leu3731Pro)
|
|
|
|
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.11253G>T (p.Gln3751His)
|
|
|
|
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.11269+1G>T
|
|
|
|
NM_001009944.3(PKD1):c.11270-10T>A
|
rs1567154300
|
|
|
NM_001009944.3(PKD1):c.11270-1G>A
|
rs2151700092
|
|
|
NM_001009944.3(PKD1):c.11270-4del
|
|
|
|
NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter)
|
rs369825780
|
|
|
NM_001009944.3(PKD1):c.11277_11280dup (p.Asp3761fs)
|
|
|
|
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.11352_11355del (p.Trp3785fs)
|
|
|
|
NM_001009944.3(PKD1):c.11354G>A (p.Trp3785Ter)
|
|
|
|
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.11389dup (p.Tyr3797fs)
|
|
|
|
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.11412-1G>C
|
|
|
|
NM_001009944.3(PKD1):c.11412-2A>C
|
rs1555445771
|
|
|
NM_001009944.3(PKD1):c.11412-2A>G
|
|
|
|
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.11441_11459dup (p.Val3820_Gln3821insTer)
|
|
|
|
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.11454C>T (p.Gly3818=)
|
|
|
|
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.11532C>A (p.Asp3844Glu)
|
|
|
|
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.11538-51_11554del
|
|
|
|
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>A (p.Glu3853Lys)
|
|
|
|
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.11567_11568del (p.Arg3856fs)
|
|
|
|
NM_001009944.3(PKD1):c.11586dup (p.Leu3863fs)
|
|
|
|
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.11642C>A (p.Ala3881Asp)
|
|
|
|
NM_001009944.3(PKD1):c.11649_11662del (p.Ser3884fs)
|
rs1596480112
|
|
|
NM_001009944.3(PKD1):c.11650del (p.Ser3884fs)
|
|
|
|
NM_001009944.3(PKD1):c.11657G>C (p.Arg3886Pro)
|
|
|
|
NM_001009944.3(PKD1):c.11661del (p.Phe3888fs)
|
rs2151695275
|
|
|
NM_001009944.3(PKD1):c.11674_11695del (p.Arg3892fs)
|
|
|
|
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.11693_11702del (p.Ser3898fs)
|
|
|
|
NM_001009944.3(PKD1):c.11693_11702dup (p.Leu3902fs)
|
|
|
|
NM_001009944.3(PKD1):c.11703dup (p.Leu3902fs)
|
|
|
|
NM_001009944.3(PKD1):c.11711C>A (p.Ser3904Ter)
|
|
|
|
NM_001009944.3(PKD1):c.11713-29_11713-8del
|
|
|
|
NM_001009944.3(PKD1):c.11713-3C>A
|
|
|
|
NM_001009944.3(PKD1):c.11716T>C (p.Cys3906Arg)
|
rs2091502521
|
|
|
NM_001009944.3(PKD1):c.11716dup (p.Cys3906fs)
|
|
|
|
NM_001009944.3(PKD1):c.11717G>A (p.Cys3906Tyr)
|
|
|
|
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.11773G>T (p.Glu3925Ter)
|
|
|
|
NM_001009944.3(PKD1):c.11800_11801del (p.Gly3934fs)
|
|
|
|
NM_001009944.3(PKD1):c.11814del (p.Trp3939fs)
|
|
|
|
NM_001009944.3(PKD1):c.11843C>G (p.Thr3948Arg)
|
|
|
|
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.11927G>T (p.Ser3976Ile)
|
|
|
|
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)
|
|
|
|
NM_001009944.3(PKD1):c.11939T>G (p.Val3980Gly)
|
|
|
|
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.11989del (p.Leu3997fs)
|
|
|
|
NM_001009944.3(PKD1):c.11995_11996dup (p.Leu3999fs)
|
|
|
|
NM_001009944.3(PKD1):c.1199del (p.Arg400fs)
|
rs2092665134
|
|
|
NM_001009944.3(PKD1):c.12004-1G>A
|
|
|
|
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.1202-10C>A
|
|
|
|
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.12020G>A (p.Arg4007His)
|
|
|
|
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.12054_12055del (p.Leu4019fs)
|
|
|
|
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
|
|
|
|
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)
|
rs764431330
|
|
|
NM_001009944.3(PKD1):c.12068dup (p.Pro4024fs)
|
|
|
|
NM_001009944.3(PKD1):c.12070C>T (p.Pro4024Ser)
|
rs771494407
|
|
|
NM_001009944.3(PKD1):c.12119A>G (p.Tyr4040Cys)
|
|
|
|
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.12144_12145del (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.12178dup (p.Gln4060fs)
|
|
|
|
NM_001009944.3(PKD1):c.1217G>A (p.Cys406Tyr)
|
|
|
|
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.12237dup (p.Trp4080fs)
|
|
|
|
NM_001009944.3(PKD1):c.12252_12253del (p.Leu4085fs)
|
|
|
|
NM_001009944.3(PKD1):c.12261T>A (p.Cys4087Ter)
|
rs199476097
|
|
|
NM_001009944.3(PKD1):c.12267del (p.Leu4090fs)
|
|
|
|
NM_001009944.3(PKD1):c.12273G>A (p.Trp4091Ter)
|
|
|
|
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.12407_12415dup (p.Arg4138_Leu4139insArgLeuArg)
|
|
|
|
NM_001009944.3(PKD1):c.12413G>A (p.Arg4138His)
|
|
|
|
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.12464T>A (p.Phe4155Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.12464T>C (p.Phe4155Ser)
|
|
|
|
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.12497_12507del (p.Ser4165_Ser4166insTer)
|
|
|
|
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs)
|
rs1555444249
|
|
|
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)
|
rs1555444225
|
|
|
NM_001009944.3(PKD1):c.12570dup (p.Ser4191fs)
|
|
|
|
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.12615dup (p.Thr4206fs)
|
|
|
|
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.1282_1296del (p.Ala428_Ala432del)
|
|
|
|
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.12911A>G (p.Ter4304Trp)
|
|
|
|
NM_001009944.3(PKD1):c.1291C>T (p.Gln431Ter)
|
|
|
|
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.1295C>T (p.Ala432Val)
|
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.1312dup (p.Ala438fs)
|
|
|
|
NM_001009944.3(PKD1):c.1322_1339del (p.Gly441_Met446del)
|
|
|
|
NM_001009944.3(PKD1):c.1326del (p.Ala443fs)
|
rs2151822381
|
|
|
NM_001009944.3(PKD1):c.1331T>C (p.Leu444Pro)
|
|
|
|
NM_001009944.3(PKD1):c.1347_1356delinsAC (p.Ser449fs)
|
rs1567216323
|
|
|
NM_001009944.3(PKD1):c.1357C>T (p.Gln453Ter)
|
|
|
|
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.1420C>T (p.Gln474Ter)
|
rs1567215646
|
|
|
NM_001009944.3(PKD1):c.1429G>T (p.Glu477Ter)
|
|
|
|
NM_001009944.3(PKD1):c.1442_1445dup (p.Gln483fs)
|
|
|
|
NM_001009944.3(PKD1):c.146T>G (p.Val49Gly)
|
|
|
|
NM_001009944.3(PKD1):c.1491del (p.Glu499fs)
|
|
|
|
NM_001009944.3(PKD1):c.1501C>T (p.His501Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.151T>A (p.Cys51Ser)
|
|
|
|
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)
|
rs58598099
|
|
|
NM_001009944.3(PKD1):c.1528_1546del (p.Arg510fs)
|
|
|
|
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.1546del (p.Trp516fs)
|
|
|
|
NM_001009944.3(PKD1):c.1548G>A (p.Trp516Ter)
|
rs2151820663
|
|
|
NM_001009944.3(PKD1):c.1558G>A (p.Asp520Asn)
|
|
|
|
NM_001009944.3(PKD1):c.1564T>G (p.Cys522Gly)
|
|
|
|
NM_001009944.3(PKD1):c.1584C>A (p.Tyr528Ter)
|
rs1401015526
|
|
|
NM_001009944.3(PKD1):c.1585G>A (p.Val529Ile)
|
|
|
|
NM_001009944.3(PKD1):c.1588_1592del (p.Cys530fs)
|
|
|
|
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys)
|
rs1567215326
|
|
|
NM_001009944.3(PKD1):c.1606+1G>A
|
rs2151820539
|
|
|
NM_001009944.3(PKD1):c.1606+1G>T
|
|
|
|
NM_001009944.3(PKD1):c.1606+2T>G
|
|
|
|
NM_001009944.3(PKD1):c.1606+5G>A
|
rs2092646077
|
|
|
NM_001009944.3(PKD1):c.1606+5G>T
|
|
|
|
NM_001009944.3(PKD1):c.1607-2A>C
|
|
|
|
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs)
|
rs3072277
|
|
|
NM_001009944.3(PKD1):c.160_166dup (p.Leu56fs)
|
|
|
|
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His)
|
rs1382845038
|
|
|
NM_001009944.3(PKD1):c.1620_1621del (p.Ala541fs)
|
|
|
|
NM_001009944.3(PKD1):c.1628dup (p.Asn543fs)
|
|
|
|
NM_001009944.3(PKD1):c.1630CTC[1] (p.Leu545del)
|
rs1596585121
|
|
|
NM_001009944.3(PKD1):c.1653_1654dup (p.Asp552fs)
|
|
|
|
NM_001009944.3(PKD1):c.1654del (p.Asp552fs)
|
rs2151819777
|
|
|
NM_001009944.3(PKD1):c.1658_1667dup (p.Leu557fs)
|
|
|
|
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.1684C>T (p.Gln562Ter)
|
|
|
|
NM_001009944.3(PKD1):c.1699_1700del (p.Ala568fs)
|
|
|
|
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.1771A>C (p.Thr591Pro)
|
|
|
|
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)
|
rs1596582702
|
|
|
NM_001009944.3(PKD1):c.1787C>A (p.Thr596Asn)
|
|
|
|
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter)
|
rs2092629130
|
|
|
NM_001009944.3(PKD1):c.1816C>G (p.Arg606Gly)
|
|
|
|
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.1850-1G>A
|
|
|
|
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.1910C>T (p.Ala637Val)
|
|
|
|
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)
|
|
|
|
NM_001009944.3(PKD1):c.1931del (p.Gly644fs)
|
rs1596580483
|
|
|
NM_001009944.3(PKD1):c.1938G>A (p.Trp646Ter)
|
|
|
|
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
|
|
|
|
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
|
|
|
|
NM_001009944.3(PKD1):c.2009C>T (p.Thr670Met)
|
|
|
|
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup)
|
rs1567212718
|
|
|
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.2097G>C (p.Ser699=)
|
|
|
|
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+1G>T
|
|
|
|
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.2153A>G (p.Gln718Arg)
|
|
|
|
NM_001009944.3(PKD1):c.2156A>G (p.His719Arg)
|
|
|
|
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.2210del (p.Gly737fs)
|
|
|
|
NM_001009944.3(PKD1):c.2232del (p.Ala745fs)
|
|
|
|
NM_001009944.3(PKD1):c.2239G>A (p.Ala747Thr)
|
|
|
|
NM_001009944.3(PKD1):c.224C>A (p.Ser75Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.2262dup (p.Pro755fs)
|
|
|
|
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter)
|
rs775710328
|
|
|
NM_001009944.3(PKD1):c.2279G>T (p.Gly760Val)
|
|
|
|
NM_001009944.3(PKD1):c.2285G>A (p.Trp762Ter)
|
|
|
|
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs)
|
rs2092600549
|
|
|
NM_001009944.3(PKD1):c.2396_2421del (p.Arg799fs)
|
rs2092598385
|
|
|
NM_001009944.3(PKD1):c.2401_2410dup (p.Asn804fs)
|
|
|
|
NM_001009944.3(PKD1):c.2421C>G (p.Ser807=)
|
rs2092598341
|
|
|
NM_001009944.3(PKD1):c.2438G>T (p.Cys813Phe)
|
rs2092598008
|
|
|
NM_001009944.3(PKD1):c.2484C>A (p.Tyr828Ter)
|
|
|
|
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.2552_2553del (p.Ser851fs)
|
|
|
|
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs)
|
rs1596575646
|
|
|
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.2684C>G (p.Ser895Ter)
|
|
|
|
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.2732_2753dup (p.Arg919fs)
|
|
|
|
NM_001009944.3(PKD1):c.2784_2796del (p.Glu929fs)
|
|
|
|
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs)
|
rs1596574774
|
|
|
NM_001009944.3(PKD1):c.2850del (p.Leu950_Val951insTer)
|
|
|
|
NM_001009944.3(PKD1):c.2853+1G>A
|
rs2151812559
|
|
|
NM_001009944.3(PKD1):c.2853+5G>C
|
|
|
|
NM_001009944.3(PKD1):c.2857T>G (p.Tyr953Asp)
|
|
|
|
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.2948A>G (p.Asn983Ser)
|
|
|
|
NM_001009944.3(PKD1):c.2952_2955del (p.Tyr986fs)
|
|
|
|
NM_001009944.3(PKD1):c.2962_2985+1del
|
|
|
|
NM_001009944.3(PKD1):c.2966_2970del (p.Ala989fs)
|
|
|
|
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=)
|
rs1324429294
|
|
|
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
|
|
|
|
NM_001009944.3(PKD1):c.2985+3del
|
|
|
|
NM_001009944.3(PKD1):c.2986-15C>T
|
rs2855349
|
|
|
NM_001009944.3(PKD1):c.29_40del (p.Ala10_Leu13del)
|
|
|
|
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.3121del (p.Ala1041fs)
|
|
|
|
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu)
|
rs724159822
|
|
|
NM_001009944.3(PKD1):c.313A>T (p.Thr105Ser)
|
|
|
|
NM_001009944.3(PKD1):c.3160del (p.Leu1054fs)
|
|
|
|
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.3161T>C (p.Leu1054Pro)
|
|
|
|
NM_001009944.3(PKD1):c.3162-1G>A
|
|
|
|
NM_001009944.3(PKD1):c.3162-1G>C
|
|
|
|
NM_001009944.3(PKD1):c.3162-1G>T
|
|
|
|
NM_001009944.3(PKD1):c.3162-3C>G
|
|
|
|
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.3217_3218insTTCGG (p.Glu1073fs)
|
|
|
|
NM_001009944.3(PKD1):c.3218del (p.Glu1073fs)
|
|
|
|
NM_001009944.3(PKD1):c.322G>T (p.Glu108Ter)
|
rs1416011785
|
|
|
NM_001009944.3(PKD1):c.3240dup (p.Ser1081fs)
|
|
|
|
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.3277C>G (p.His1093Asp)
|
|
|
|
NM_001009944.3(PKD1):c.3283_3285del (p.Tyr1095del)
|
rs2092536449
|
|
|
NM_001009944.3(PKD1):c.3294_3295+5del
|
|
|
|
NM_001009944.3(PKD1):c.3295+1G>T
|
rs2092536130
|
|
|
NM_001009944.3(PKD1):c.3296-1G>A
|
rs1567204631
|
|
|
NM_001009944.3(PKD1):c.3296G>A (p.Gly1099Asp)
|
|
|
|
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.340T>G (p.Leu114Val)
|
|
|
|
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del)
|
rs1060499705
|
|
|
NM_001009944.3(PKD1):c.3418G>C (p.Ala1140Pro)
|
|
|
|
NM_001009944.3(PKD1):c.341_345del (p.Asn113_Leu114insTer)
|
|
|
|
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.3520C>T (p.Gln1174Ter)
|
rs1057518899
|
|
|
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys)
|
rs1458516705
|
|
|
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter)
|
rs1057516206
|
|
|
NM_001009944.3(PKD1):c.3586_3587del (p.Thr1196fs)
|
|
|
|
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.359T>C (p.Ile120Thr)
|
rs1555459345
|
|
|
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter)
|
rs2092506242
|
|
|
NM_001009944.3(PKD1):c.3613del (p.Asp1205fs)
|
|
|
|
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.3745G>A (p.Asp1249Asn)
|
|
|
|
NM_001009944.3(PKD1):c.3753del (p.Val1252fs)
|
|
|
|
NM_001009944.3(PKD1):c.3764del (p.Gly1255fs)
|
|
|
|
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.381dup (p.Glu128Ter)
|
|
|
|
NM_001009944.3(PKD1):c.3850del (p.Ala1284fs)
|
rs1567202350
|
|
|
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter)
|
rs780119305
|
|
|
NM_001009944.3(PKD1):c.3884A>C (p.Glu1295Ala)
|
|
|
|
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.3930_3931insCA (p.Ala1311fs)
|
|
|
|
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs)
|
rs2151799399
|
|
|
NM_001009944.3(PKD1):c.393_394del (p.Cys131fs)
|
|
|
|
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.3992G>A (p.Gly1331Glu)
|
|
|
|
NM_001009944.3(PKD1):c.4023dup (p.Cys1342fs)
|
|
|
|
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.4049C>A (p.Thr1350Lys)
|
|
|
|
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.4076T>C (p.Leu1359Pro)
|
|
|
|
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.4138_4164del (p.Val1380_Glu1388del)
|
|
|
|
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.4220dup (p.Phe1408fs)
|
|
|
|
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.4258G>T (p.Glu1420Ter)
|
rs1555456139
|
|
|
NM_001009944.3(PKD1):c.4264del (p.Ala1422fs)
|
|
|
|
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
|
|
|
|
NM_001009944.3(PKD1):c.4282_4291del (p.Arg1427_Gly1428insTer)
|
|
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
|
NM_001009944.3(PKD1):c.4308_4339del (p.Asp1437fs)
|
|
|
|
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
|
NM_001009944.3(PKD1):c.4355C>T (p.Ser1452Phe)
|
|
|
|
NM_001009944.3(PKD1):c.4369_4370del (p.Ala1458fs)
|
|
|
|
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.4493A>G (p.Tyr1498Cys)
|
|
|
|
NM_001009944.3(PKD1):c.4500G>C (p.Trp1500Cys)
|
|
|
|
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg)
|
rs2092478372
|
|
|
NM_001009944.3(PKD1):c.4511del (p.Asp1504fs)
|
|
|
|
NM_001009944.3(PKD1):c.4521G>A (p.Trp1507Ter)
|
|
|
|
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)
|
rs144200494
|
|
|
NM_001009944.3(PKD1):c.4534G>T (p.Glu1512Ter)
|
|
|
|
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.4625_4626del (p.Val1542fs)
|
|
|
|
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.4670G>T (p.Arg1557Leu)
|
|
|
|
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.4753del (p.Cys1585fs)
|
|
|
|
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.4831G>T (p.Val1611Phe)
|
|
|
|
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.4896dup (p.Glu1633fs)
|
|
|
|
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.5034dup (p.Ser1679fs)
|
|
|
|
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.512T>A (p.Leu171Ter)
|
|
|
|
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.5161del (p.Trp1720_Leu1721insTer)
|
|
|
|
NM_001009944.3(PKD1):c.5167dup (p.Val1723fs)
|
|
|
|
NM_001009944.3(PKD1):c.5207_5209delinsGCC (p.Val1736_Thr1737delinsGlyPro)
|
|
|
|
NM_001009944.3(PKD1):c.5249A>G (p.Tyr1750Cys)
|
|
|
|
NM_001009944.3(PKD1):c.5254T>C (p.Trp1752Arg)
|
rs2151794130
|
|
|
NM_001009944.3(PKD1):c.5255G>A (p.Trp1752Ter)
|
|
|
|
NM_001009944.3(PKD1):c.5266G>T (p.Glu1756Ter)
|
|
|
|
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.52T>C (p.Trp18Arg)
|
|
|
|
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.5462C>T (p.Ser1821Phe)
|
|
|
|
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter)
|
|
|
|
NM_001009944.3(PKD1):c.5482C>T (p.Gln1828Ter)
|
|
|
|
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser)
|
rs2151792963
|
|
|
NM_001009944.3(PKD1):c.5497A>C (p.Thr1833Pro)
|
|
|
|
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter)
|
rs2092450284
|
|
|
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)
|
|
|
|
NM_001009944.3(PKD1):c.5517G>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.5615T>G (p.Val1872Gly)
|
|
|
|
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.5644_5645del (p.Thr1882fs)
|
|
|
|
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala)
|
rs1555459201
|
|
|
NM_001009944.3(PKD1):c.5669_5682dup (p.Ser1895fs)
|
|
|
|
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.5744C>A (p.Ser1915Ter)
|
|
|
|
NM_001009944.3(PKD1):c.5744C>T (p.Ser1915Leu)
|
|
|
|
NM_001009944.3(PKD1):c.5756T>C (p.Phe1919Ser)
|
|
|
|
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
|
|
|
|
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)
|
rs199476101
|
|
|
NM_001009944.3(PKD1):c.576_586del (p.Ala193fs)
|
|
|
|
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.5839GTG[1] (p.Val1948del)
|
|
|
|
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.5863_5865del (p.His1955del)
|
|
|
|
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.5957C>T (p.Thr1986Met)
|
|
|
|
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.6000_6001del (p.Arg2001fs)
|
|
|
|
NM_001009944.3(PKD1):c.6011A>G (p.Tyr2004Cys)
|
|
|
|
NM_001009944.3(PKD1):c.6011_6016del (p.Tyr2004_Ala2005del)
|
|
|
|
NM_001009944.3(PKD1):c.601dup (p.His201fs)
|
rs2151824362
|
|
|
NM_001009944.3(PKD1):c.6021C>G (p.Tyr2007Ter)
|
|
|
|
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.6083A>G (p.Tyr2028Cys)
|
|
|
|
NM_001009944.3(PKD1):c.6090del (p.Val2031fs)
|
|
|
|
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.6131A>G (p.Asn2044Ser)
|
|
|
|
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.6185A>G (p.Gln2062Arg)
|
|
|
|
NM_001009944.3(PKD1):c.6191T>A (p.Val2064Glu)
|
|
|
|
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.6232C>T (p.Gln2078Ter)
|
|
|
|
NM_001009944.3(PKD1):c.6261_6262del (p.Arg2088fs)
|
|
|
|
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.628T>C (p.Cys210Arg)
|
|
|
|
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.6340T>C (p.Tyr2114His)
|
|
|
|
NM_001009944.3(PKD1):c.6341_6344del (p.Ser2113_Tyr2114insTer)
|
|
|
|
NM_001009944.3(PKD1):c.6346_6352del (p.Arg2116fs)
|
|
|
|
NM_001009944.3(PKD1):c.6360C>A (p.Tyr2120Ter)
|
|
|
|
NM_001009944.3(PKD1):c.6365T>A (p.Val2122Glu)
|
|
|
|
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)
|
rs762911981
|
|
|
NM_001009944.3(PKD1):c.6380_6397dup (p.Phe2132_Phe2133insSerAsnLeuValSerPhe)
|
|
|
|
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp)
|
rs2151788281
|
|
|
NM_001009944.3(PKD1):c.6383A>G (p.Asn2128Ser)
|
|
|
|
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.6469del (p.Leu2157fs)
|
|
|
|
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.6540del (p.Tyr2181fs)
|
|
|
|
NM_001009944.3(PKD1):c.6549_6550del (p.Glu2184fs)
|
|
|
|
NM_001009944.3(PKD1):c.6549del (p.Glu2184fs)
|
|
|
|
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)
|
rs1555454373
|
|
|
NM_001009944.3(PKD1):c.6553T>G (p.Tyr2185Asp)
|
|
|
|
NM_001009944.3(PKD1):c.655C>T (p.Gln219Ter)
|
rs2092673393
|
|
|
NM_001009944.3(PKD1):c.6561G>C (p.Trp2187Cys)
|
|
|
|
NM_001009944.3(PKD1):c.6561G>T (p.Trp2187Cys)
|
|
|
|
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs)
|
rs1596551138
|
|
|
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)
|
|
|
|
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.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.6629_6644dup (p.Leu2216fs)
|
|
|
|
NM_001009944.3(PKD1):c.6638G>C (p.Arg2213Pro)
|
|
|
|
NM_001009944.3(PKD1):c.6640C>T (p.Pro2214Ser)
|
|
|
|
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.6660del (p.Leu2221fs)
|
|
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
|
NM_001009944.3(PKD1):c.6684C>G (p.Tyr2228Ter)
|
|
|
|
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)
|
|
|
|
NM_001009944.3(PKD1):c.6700G>T (p.Val2234Leu)
|
|
|
|
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.673_674del (p.Ser225fs)
|
|
|
|
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.6759del (p.Glu2254fs)
|
|
|
|
NM_001009944.3(PKD1):c.6769del (p.Val2257fs)
|
|
|
|
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del)
|
|
|
|
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.6804G>A (p.Trp2268Ter)
|
|
|
|
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)
|
rs1567191179
|
|
|
NM_001009944.3(PKD1):c.6808_6811del (p.Asp2270fs)
|
|
|
|
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.6916-9G>A
|
rs1567190244
|
|
|
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.7065+224C>G
|
|
|
|
NM_001009944.3(PKD1):c.7065G>A (p.Thr2355=)
|
|
|
|
NM_001009944.3(PKD1):c.7066-1G>C
|
|
|
|
NM_001009944.3(PKD1):c.7067T>G (p.Val2356Gly)
|
|
|
|
NM_001009944.3(PKD1):c.706C>T (p.Gln236Ter)
|
|
|
|
NM_001009944.3(PKD1):c.7075del (p.Arg2359fs)
|
|
|
|
NM_001009944.3(PKD1):c.7078_7081del (p.Ser2360fs)
|
|
|
|
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.7115C>G (p.Ser2372Cys)
|
|
|
|
NM_001009944.3(PKD1):c.711del (p.Ser238fs)
|
rs2092672595
|
|
|
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)
|
rs1555453395
|
|
|
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.7148G>T (p.Arg2383Leu)
|
|
|
|
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.7241del (p.Thr2414fs)
|
|
|
|
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.7303dup (p.Arg2435fs)
|
|
|
|
NM_001009944.3(PKD1):c.7305_7309del (p.Gly2436fs)
|
|
|
|
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.7401dup (p.Asn2468fs)
|
|
|
|
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu)
|
rs539143745
|
|
|
NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)
|
|
|
|
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.7485C>A (p.Cys2495Ter)
|
|
|
|
NM_001009944.3(PKD1):c.7487C>T (p.Thr2496Met)
|
|
|
|
NM_001009944.3(PKD1):c.7489+5G>A
|
rs2092337963
|
|
|
NM_001009944.3(PKD1):c.7495del (p.His2499fs)
|
rs2092333316
|
|
|
NM_001009944.3(PKD1):c.7499A>T (p.Asp2500Val)
|
rs1596540533
|
|
|
NM_001009944.3(PKD1):c.7508_7518del (p.Asp2503fs)
|
|
|
|
NM_001009944.3(PKD1):c.750_751delinsA (p.Pro252fs)
|
|
|
|
NM_001009944.3(PKD1):c.7534del (p.Leu2512fs)
|
|
|
|
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.7622C>G (p.Pro2541Arg)
|
|
|
|
NM_001009944.3(PKD1):c.7638dup (p.Phe2547fs)
|
|
|
|
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter)
|
rs28369051
|
|
|
NM_001009944.3(PKD1):c.7664T>G (p.Val2555Gly)
|
|
|
|
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter)
|
rs1567184366
|
|
|
NM_001009944.3(PKD1):c.7667A>C (p.Gln2556Pro)
|
|
|
|
NM_001009944.3(PKD1):c.7679_7690del (p.Gly2560_Val2563del)
|
|
|
|
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly)
|
rs2092327341
|
|
|
NM_001009944.3(PKD1):c.7703+1G>A
|
|
|
|
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys)
|
rs2092327300
|
|
|
NM_001009944.3(PKD1):c.7704-1G>A
|
|
|
|
NM_001009944.3(PKD1):c.7704-1G>C
|
|
|
|
NM_001009944.3(PKD1):c.7704-4G>T
|
rs778212840
|
|
|
NM_001009944.3(PKD1):c.7712C>T (p.Ala2571Val)
|
rs756838066
|
|
|
NM_001009944.3(PKD1):c.771dup (p.Thr258fs)
|
|
|
|
NM_001009944.3(PKD1):c.7761G>A (p.Trp2587Ter)
|
|
|
|
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.782del (p.Gly261fs)
|
|
|
|
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.7837_7839del (p.Leu2613del)
|
|
|
|
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter)
|
rs762003393
|
|
|
NM_001009944.3(PKD1):c.7863+5G>C
|
rs2092319525
|
|
|
NM_001009944.3(PKD1):c.7864-3_7896del
|
|
|
|
NM_001009944.3(PKD1):c.7867G>A (p.Glu2623Lys)
|
rs2092305182
|
|
|
NM_001009944.3(PKD1):c.7884_7903dup (p.Glu2635fs)
|
|
|
|
NM_001009944.3(PKD1):c.7887_7888insTGTGGCG (p.Ala2630fs)
|
|
|
|
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.796C>T (p.Gln266Ter)
|
|
|
|
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.8045dup (p.Cys2683fs)
|
|
|
|
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.8152_8156del (p.Asn2718fs)
|
|
|
|
NM_001009944.3(PKD1):c.8158dup (p.Thr2720fs)
|
|
|
|
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.8201del (p.Pro2734fs)
|
|
|
|
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.823del (p.Ala275fs)
|
|
|
|
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.8272_8283del (p.Ala2758_Arg2761del)
|
|
|
|
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.8290_8293dup (p.Arg2765fs)
|
|
|
|
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.8324_8325insA (p.Leu2776fs)
|
|
|
|
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
|
|
|
|
NM_001009944.3(PKD1):c.8332_8344dup (p.Val2782fs)
|
|
|
|
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs)
|
rs1567178000
|
|
|
NM_001009944.3(PKD1):c.8353G>C (p.Gly2785Arg)
|
rs2151755659
|
|
|
NM_001009944.3(PKD1):c.8355C>T (p.Gly2785=)
|
|
|
|
NM_001009944.3(PKD1):c.8363C>A (p.Ser2788Ter)
|
|
|
|
NM_001009944.3(PKD1):c.8374del (p.Ser2792fs)
|
|
|
|
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.8426C>T (p.Pro2809Leu)
|
|
|
|
NM_001009944.3(PKD1):c.8427_8446dup (p.Leu2816fs)
|
|
|
|
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter)
|
|
|
|
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.8493dup (p.Asn2832fs)
|
|
|
|
NM_001009944.3(PKD1):c.8499delinsAAAG (p.Pro2833_Phe2834insLys)
|
rs1596526681
|
|
|
NM_001009944.3(PKD1):c.8502del (p.Phe2836fs)
|
|
|
|
NM_001009944.3(PKD1):c.8514dup (p.Ile2839fs)
|
|
|
|
NM_001009944.3(PKD1):c.8530_8538del (p.Val2844_Thr2846del)
|
|
|
|
NM_001009944.3(PKD1):c.8554del (p.Ala2852fs)
|
|
|
|
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.8574_8580del (p.Ala2859fs)
|
|
|
|
NM_001009944.3(PKD1):c.8593C>T (p.Arg2865Trp)
|
|
|
|
NM_001009944.3(PKD1):c.8603C>G (p.Ser2868Ter)
|
|
|
|
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.8646G>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.8691del (p.Val2898fs)
|
|
|
|
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.8747del (p.Pro2916fs)
|
|
|
|
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)
|
rs1596525695
|
|
|
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu)
|
|
|
|
NM_001009944.3(PKD1):c.8757del (p.Leu2920fs)
|
|
|
|
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.8792-2A>G
|
|
|
|
NM_001009944.3(PKD1):c.8803_8806del (p.Ser2935fs)
|
|
|
|
NM_001009944.3(PKD1):c.8804_8805del (p.Leu2934_Ser2935insTer)
|
|
|
|
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.8840A>C (p.His2947Pro)
|
|
|
|
NM_001009944.3(PKD1):c.8842_8843del (p.Ser2948fs)
|
|
|
|
NM_001009944.3(PKD1):c.8843C>T (p.Ser2948Leu)
|
|
|
|
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.8909del (p.Gly2970fs)
|
|
|
|
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.8978T>G (p.Leu2993Arg)
|
|
|
|
NM_001009944.3(PKD1):c.8993A>C (p.His2998Pro)
|
|
|
|
NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs)
|
rs1555450475
|
|
|
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro)
|
rs746460070
|
|
|
NM_001009944.3(PKD1):c.899_914del (p.Val300fs)
|
|
|
|
NM_001009944.3(PKD1):c.899dup (p.Thr301fs)
|
|
|
|
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.9038C>T (p.Ser3013Phe)
|
|
|
|
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro)
|
rs2151750096
|
|
|
NM_001009944.3(PKD1):c.9045C>G (p.Cys3015Trp)
|
|
|
|
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg)
|
rs2151750082
|
|
|
NM_001009944.3(PKD1):c.9048del (p.Gln3016fs)
|
|
|
|
NM_001009944.3(PKD1):c.9049T>G (p.Tyr3017Asp)
|
|
|
|
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
|
|
|
|
NM_001009944.3(PKD1):c.9058G>A (p.Glu3020Lys)
|
|
|
|
NM_001009944.3(PKD1):c.9077G>A (p.Arg3026Gln)
|
|
|
|
NM_001009944.3(PKD1):c.9098del (p.Leu3033fs)
|
|
|
|
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.9148G>A (p.Ala3050Thr)
|
|
|
|
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.9185_9188dup (p.Phe3064fs)
|
|
|
|
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.9302T>A (p.Leu3101Ter)
|
|
|
|
NM_001009944.3(PKD1):c.9331T>A (p.Phe3111Ile)
|
rs767845814
|
|
|
NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter)
|
|
|
|
NM_001009944.3(PKD1):c.9355A>T (p.Lys3119Ter)
|
|
|
|
NM_001009944.3(PKD1):c.9365T>G (p.Ile3122Ser)
|
rs2092119998
|
|
|
NM_001009944.3(PKD1):c.9373A>G (p.Lys3125Glu)
|
|
|
|
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.9411C>G (p.His3137Gln)
|
|
|
|
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.9417del (p.Ile3140fs)
|
|
|
|
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.9430G>C (p.Gly3144Arg)
|
|
|
|
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.9462_9478del (p.Asp3155fs)
|
|
|
|
NM_001009944.3(PKD1):c.9486dup (p.Asn3163fs)
|
rs2092049440
|
|
|
NM_001009944.3(PKD1):c.9494T>C (p.Leu3165Pro)
|
rs1555449597
|
|
|
NM_001009944.3(PKD1):c.9496dup (p.Asp3166fs)
|
|
|
|
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.9530dup (p.Gly3177_Ser3178insTer)
|
|
|
|
NM_001009944.3(PKD1):c.9543G>T (p.Lys3181Asn)
|
|
|
|
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.9593A>C (p.Gln3198Pro)
|
|
|
|
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.9611A>T (p.Asp3204Val)
|
|
|
|
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.9644T>A (p.Val3215Asp)
|
|
|
|
NM_001009944.3(PKD1):c.9656_9674del (p.Leu3219fs)
|
rs2092035920
|
|
|
NM_001009944.3(PKD1):c.9661del (p.Val3221fs)
|
|
|
|
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.9697dup (p.Glu3233fs)
|
|
|
|
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.9754G>A (p.Glu3252Lys)
|
|
|
|
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal)
|
rs1057516202
|
|
|
NM_001009944.3(PKD1):c.9756_9771dup (p.Phe3258fs)
|
|
|
|
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.9805C>T (p.Arg3269Trp)
|
|
|
|
NM_001009944.3(PKD1):c.9827C>T (p.Thr3276Ile)
|
|
|
|
NM_001009944.3(PKD1):c.9841G>C (p.Ala3281Pro)
|
|
|
|
NM_001009944.3(PKD1):c.9841del (p.Ala3281fs)
|
rs2092021706
|
|
|
NM_001009944.3(PKD1):c.9847T>C (p.Cys3283Arg)
|
rs2092021242
|
|
|
NM_001009944.3(PKD1):c.9847dup (p.Cys3283fs)
|
|
|
|
NM_001009944.3(PKD1):c.9851G>A (p.Cys3284Tyr)
|
|
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
|
NM_001009944.3(PKD1):c.9863del (p.Ile3288fs)
|
|
|
|
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.9924-10_9924dup
|
|
|
|
NM_001009944.3(PKD1):c.9924-1G>C
|
rs2151738493
|
|
|
NM_001009944.3(PKD1):c.9924-9_9924-7del
|
rs892390487
|
|
|
NM_001009944.3(PKD1):c.9964dup (p.Thr3322fs)
|
|
|
|
NM_001009944.3(PKD1):c.9965_9966del (p.Thr3322fs)
|
|
|
|
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_001009944.3:c.(9201+1_9398-1)_(10050+1_10051-1)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.1109G>A (p.Arg370Lys)
|
rs782464678
|
|
|
NM_024740.2(ALG9):c.681G>A (p.Trp227Ter)
|
rs1592341222
|
|
|
Single allele
|
|
|