NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln)
|
rs40433
|
0.96736
|
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=)
|
rs35842
|
0.83599
|
NM_001009944.3(PKD1):c.8161+21T>C
|
rs4786209
|
0.64337
|
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=)
|
rs3087632
|
0.30741
|
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val)
|
rs10960
|
0.30294
|
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=)
|
rs2457533
|
0.26954
|
NM_001009944.3(PKD1):c.8949-17A>G
|
rs9928278
|
0.26586
|
NM_001009944.3(PKD1):c.7863+47T>G
|
rs28610092
|
0.26045
|
NM_001009944.3(PKD1):c.8016+26T>C
|
rs9934488
|
0.25952
|
NM_001009944.3(PKD1):c.1850-4A>G
|
rs35929659
|
0.25570
|
NM_001009944.3(PKD1):c.9195G>C (p.Val3065=)
|
rs9935834
|
0.24772
|
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=)
|
rs9935526
|
0.24705
|
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=)
|
rs2003782
|
0.24536
|
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
|
0.19794
|
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=)
|
rs2369068
|
0.19706
|
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=)
|
rs28575767
|
0.18662
|
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg)
|
rs9936785
|
0.18159
|
NM_001009944.3(PKD1):c.8161+38G>A
|
rs57922772
|
0.17977
|
NM_001009944.3(PKD1):c.1119= (p.Leu373=)
|
rs35842
|
0.16401
|
NM_001009944.3(PKD1):c.9569-13T>C
|
rs11248911
|
0.16122
|
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=)
|
rs74331768
|
0.14545
|
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=)
|
rs75510884
|
0.13957
|
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.11016+42_11016+43del
|
rs36224524
|
0.06371
|
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=)
|
rs79884128
|
0.06100
|
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val)
|
rs3209986
|
0.05767
|
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=)
|
rs79899502
|
0.05695
|
NM_001009944.3(PKD1):c.11269+128C>T
|
rs12918803
|
0.05671
|
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp)
|
rs13337123
|
0.05219
|
NM_001009944.3(PKD1):c.3296-56C>T
|
rs34048412
|
0.05015
|
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=)
|
rs35667726
|
0.05004
|
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=)
|
rs35965348
|
0.04987
|
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg)
|
rs13333553
|
0.04733
|
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.10225G>C (p.Val3409Leu)
|
rs61747420
|
0.03980
|
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=)
|
rs11643513
|
0.03868
|
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=)
|
rs2099534
|
0.03768
|
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=)
|
rs143916489
|
0.03762
|
NM_001009944.3(PKD1):c.6915+77A>T
|
rs200363107
|
0.03507
|
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.2216= (p.Arg739=)
|
rs40433
|
0.03313
|
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=)
|
rs2575313
|
0.03147
|
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser)
|
rs149022148
|
0.03132
|
NM_001009944.3(PKD1):c.8948+17A>G
|
rs9928442
|
0.02972
|
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=)
|
rs7194935
|
0.02958
|
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
|
0.02662
|
NM_001009944.3(PKD1):c.7066-55T>A
|
rs4018161
|
0.02559
|
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.6927C>T (p.Gly2309=)
|
rs189277711
|
0.01413
|
NM_001009944.3(PKD1):c.7489+30C>T
|
rs142761413
|
0.01383
|
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=)
|
rs142357713
|
0.01325
|
NM_001009944.3(PKD1):c.7489+41G>A
|
rs187691000
|
0.01291
|
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
|
0.01175
|
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.4302C>T (p.Ile1434=)
|
rs78509585
|
0.00982
|
NM_001009944.3(PKD1):c.7863+13T>C
|
rs115024665
|
0.00963
|
NM_001009944.3(PKD1):c.10051-25G>A
|
rs150399422
|
0.00935
|
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu)
|
rs139520275
|
0.00926
|
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)
|
rs145776888
|
0.00910
|
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln)
|
rs142129358
|
0.00865
|
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=)
|
rs139752541
|
0.00850
|
NM_001009944.3(PKD1):c.8948+80A>G
|
rs182818590
|
0.00849
|
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=)
|
rs115772084
|
0.00836
|
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.8964G>A (p.Ala2988=)
|
rs76184385
|
0.00641
|
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=)
|
rs145737766
|
0.00637
|
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)
|
rs149151043
|
0.00622
|
NM_001009944.3(PKD1):c.11537+3_11537+5dup
|
rs201204878
|
0.00559
|
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp)
|
rs55840049
|
0.00551
|
NM_001009944.3(PKD1):c.8161+8G>A
|
rs199569003
|
0.00547
|
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.8187G>A (p.Ser2729=)
|
rs28674911
|
0.00516
|
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.-67C>T
|
rs1016465177
|
0.00503
|
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.3277C>T (p.His1093Tyr)
|
rs146352591
|
0.00473
|
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=)
|
rs116216040
|
0.00469
|
NM_001009944.3(PKD1):c.214C>T (p.Leu72=)
|
rs972113626
|
0.00464
|
NM_001009944.3(PKD1):c.11537+17C>T
|
rs201660914
|
0.00458
|
NM_001009944.3(PKD1):c.216-4590G>A
|
rs573774849
|
0.00451
|
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=)
|
rs62038811
|
0.00429
|
NM_001009944.3(PKD1):c.7065+21G>A
|
rs9930234
|
0.00418
|
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=)
|
rs80111665
|
0.00413
|
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=)
|
rs149879790
|
0.00411
|
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=)
|
rs139399947
|
0.00399
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
NM_001009944.3(PKD1):c.276G>A (p.Ala92=)
|
rs374518168
|
0.00388
|
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)
|
rs141101590
|
0.00388
|
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=)
|
rs149938033
|
0.00366
|
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)
|
rs145955373
|
0.00360
|
NM_001009944.3(PKD1):c.1385+26C>T
|
rs376973904
|
0.00356
|
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)
|
rs149605181
|
0.00352
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00346
|
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.5373C>T (p.Asn1791=)
|
rs143017410
|
0.00329
|
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=)
|
rs138648495
|
0.00324
|
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)
|
rs112387277
|
0.00317
|
NM_001009944.3(PKD1):c.7703+24C>A
|
rs375130579
|
0.00317
|
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln)
|
rs140189010
|
0.00313
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00313
|
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile)
|
rs148478410
|
0.00312
|
NM_001009944.3(PKD1):c.11337C>G (p.Ser3779Arg)
|
rs116835405
|
0.00308
|
NM_001009944.3(PKD1):c.3296-15G>A
|
rs201704201
|
0.00306
|
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)
|
rs145217118
|
0.00290
|
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys)
|
rs146096401
|
0.00275
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00270
|
NM_001009944.3(PKD1):c.2515C>T (p.Pro839Ser)
|
rs146651553
|
0.00261
|
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met)
|
rs139507058
|
0.00248
|
NM_001009944.3(PKD1):c.7065+20C>T
|
rs181822446
|
0.00247
|
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)
|
rs150949575
|
0.00237
|
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.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00216
|
NM_001009944.3(PKD1):c.7863+11C>T
|
rs368629973
|
0.00214
|
NM_001009944.3(PKD1):c.837G>A (p.Gly279=)
|
rs372124319
|
0.00210
|
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)
|
rs369397443
|
0.00209
|
NM_001009944.3(PKD1):c.8948+11C>T
|
rs147923678
|
0.00208
|
NM_001009944.3(PKD1):c.4872C>T (p.Ile1624=)
|
rs142575178
|
0.00203
|
NM_001009944.3(PKD1):c.11538-32C>T
|
rs371331679
|
0.00202
|
NM_001009944.3(PKD1):c.12664C>T (p.Leu4222=)
|
rs144370969
|
0.00202
|
NM_001009944.3(PKD1):c.10406-4C>T
|
rs151095649
|
0.00198
|
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp)
|
rs143953714
|
0.00195
|
NM_001009944.3(PKD1):c.5307T>C (p.His1769=)
|
rs575064371
|
0.00185
|
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.8713G>A (p.Val2905Ile)
|
rs147788838
|
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.5852G>A (p.Arg1951Gln)
|
rs137905643
|
0.00156
|
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=)
|
rs148852027
|
0.00153
|
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)
|
rs144593342
|
0.00150
|
NM_001009944.3(PKD1):c.5455G>T (p.Ala1819Ser)
|
rs202119008
|
0.00150
|
NM_001009944.3(PKD1):c.8162-74G>A
|
rs1222076544
|
0.00148
|
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)
|
rs200037070
|
0.00145
|
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=)
|
rs533569454
|
0.00144
|
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val)
|
rs139917246
|
0.00140
|
NM_001009944.3(PKD1):c.11538-11C>T
|
rs377692278
|
0.00137
|
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.1123C>A (p.Leu375Ile)
|
rs546468897
|
0.00132
|
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=)
|
rs145176597
|
0.00128
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_001009944.3(PKD1):c.8844G>A (p.Ser2948=)
|
rs141713126
|
0.00124
|
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val)
|
rs144590217
|
0.00123
|
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe)
|
rs369291413
|
0.00122
|
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile)
|
rs149874529
|
0.00121
|
NM_001009944.3(PKD1):c.-109C>T
|
rs1034012323
|
0.00120
|
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
|
rs199569478
|
0.00115
|
NM_001009944.3(PKD1):c.588C>T (p.Ser196=)
|
rs776302294
|
0.00115
|
NM_001009944.3(PKD1):c.8161+12C>T
|
rs375283810
|
0.00112
|
NM_001009944.3(PKD1):c.9924-11C>T
|
rs201154266
|
0.00111
|
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe)
|
rs537409943
|
0.00110
|
NM_001009944.3(PKD1):c.1692C>T (p.Asp564=)
|
rs374525293
|
0.00109
|
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=)
|
rs143013095
|
0.00108
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00105
|
NM_001009944.3(PKD1):c.2266G>A (p.Ala756Thr)
|
rs763021570
|
0.00103
|
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)
|
rs979342927
|
0.00102
|
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.2109C>T (p.His703=)
|
rs527655141
|
0.00097
|
NM_001009944.3(PKD1):c.6915+14A>G
|
rs199559513
|
0.00097
|
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=)
|
rs141138826
|
0.00094
|
NM_001009944.3(PKD1):c.3731C>T (p.Thr1244Ile)
|
rs143624531
|
0.00093
|
NM_001009944.3(PKD1):c.3140C>T (p.Ser1047Leu)
|
rs147910505
|
0.00092
|
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=)
|
rs144663361
|
0.00092
|
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=)
|
rs149623670
|
0.00090
|
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)
|
rs148496347
|
0.00089
|
NM_001009944.3(PKD1):c.11616G>A (p.Glu3872=)
|
rs370230612
|
0.00086
|
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=)
|
rs147253810
|
0.00085
|
NM_001009944.3(PKD1):c.12690C>T (p.Asn4230=)
|
rs148433208
|
0.00084
|
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe)
|
rs370141157
|
0.00080
|
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=)
|
rs143265128
|
0.00080
|
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val)
|
rs141946034
|
0.00078
|
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu)
|
rs145922241
|
0.00077
|
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.5433G>T (p.Glu1811Asp)
|
rs144124616
|
0.00074
|
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=)
|
rs12102740
|
0.00073
|
NM_001009944.3(PKD1):c.9713-21G>A
|
rs371213519
|
0.00072
|
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=)
|
rs570750726
|
0.00070
|
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=)
|
rs138116334
|
0.00070
|
NM_001009944.3(PKD1):c.4925G>A (p.Arg1642His)
|
rs191014450
|
0.00070
|
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr)
|
rs150568356
|
0.00069
|
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=)
|
rs373854628
|
0.00068
|
NM_001009944.3(PKD1):c.12651C>T (p.Ala4217=)
|
rs141412586
|
0.00067
|
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)
|
rs141274774
|
0.00067
|
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu)
|
rs886038369
|
0.00065
|
NM_001009944.3(PKD1):c.9569-11C>T
|
rs188641836
|
0.00064
|
NM_001009944.3(PKD1):c.12139-5C>T
|
rs146430229
|
0.00063
|
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=)
|
rs142606648
|
0.00061
|
NM_001009944.3(PKD1):c.3369C>T (p.Arg1123=)
|
rs143449093
|
0.00061
|
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile)
|
rs140991712
|
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.8161+5C>T
|
rs534696523
|
0.00061
|
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=)
|
rs149924232
|
0.00060
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
NM_001009944.3(PKD1):c.2431C>G (p.Leu811Val)
|
rs137928037
|
0.00058
|
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)
|
rs140162759
|
0.00058
|
NM_001009944.3(PKD1):c.6204C>T (p.Ser2068=)
|
rs141524278
|
0.00058
|
NM_001009944.3(PKD1):c.8905C>G (p.Gln2969Glu)
|
rs200520583
|
0.00058
|
NM_001009944.3(PKD1):c.9713-4C>T
|
rs200434097
|
0.00058
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=)
|
rs371368338
|
0.00056
|
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=)
|
rs547262346
|
0.00054
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met)
|
rs151089809
|
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.768C>T (p.Ala256=)
|
rs548835442
|
0.00049
|
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=)
|
rs143843155
|
0.00048
|
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn)
|
rs199700485
|
0.00048
|
NM_001009944.3(PKD1):c.5526C>T (p.Pro1842=)
|
rs139317950
|
0.00047
|
NM_001009944.3(PKD1):c.8060C>T (p.Thr2687Met)
|
rs148642998
|
0.00047
|
NM_001009944.3(PKD1):c.1326C>T (p.Ala442=)
|
rs376607683
|
0.00046
|
NM_001009944.3(PKD1):c.2644G>A (p.Val882Met)
|
rs151016310
|
0.00046
|
NM_001009944.3(PKD1):c.4151C>T (p.Thr1384Ile)
|
rs150031440
|
0.00046
|
NM_001009944.3(PKD1):c.5598C>T (p.Leu1866=)
|
rs200853000
|
0.00046
|
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val)
|
rs972049140
|
0.00046
|
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.7575C>T (p.Phe2525=)
|
rs144409293
|
0.00044
|
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr)
|
rs143312683
|
0.00044
|
NM_001009944.3(PKD1):c.9468C>T (p.Gly3156=)
|
rs143383476
|
0.00043
|
NM_001009944.3(PKD1):c.2527T>C (p.Ser843Pro)
|
rs181738771
|
0.00042
|
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.8925C>T (p.Pro2975=)
|
rs148159605
|
0.00041
|
NM_001009944.3(PKD1):c.10240G>A (p.Gly3414Ser)
|
rs371762181
|
0.00040
|
NM_001009944.3(PKD1):c.1335A>G (p.Ala445=)
|
rs373620484
|
0.00040
|
NM_001009944.3(PKD1):c.-62C>T
|
rs889397886
|
0.00039
|
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln)
|
rs201220835
|
0.00039
|
NM_001009944.3(PKD1):c.12253C>T (p.Leu4085=)
|
rs199674888
|
0.00039
|
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=)
|
rs367600795
|
0.00039
|
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val)
|
rs780145654
|
0.00039
|
NM_001009944.3(PKD1):c.8948+28G>T
|
rs201013633
|
0.00039
|
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=)
|
rs376838860
|
0.00038
|
NM_001009944.3(PKD1):c.8335G>A (p.Glu2779Lys)
|
rs200491536
|
0.00038
|
NM_001009944.3(PKD1):c.10749C>T (p.Gly3583=)
|
rs111688332
|
0.00036
|
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)
|
rs748887038
|
0.00036
|
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=)
|
rs375384742
|
0.00036
|
NM_001009944.3(PKD1):c.4838C>T (p.Ala1613Val)
|
rs150405131
|
0.00036
|
NM_001009944.3(PKD1):c.871G>T (p.Ala291Ser)
|
rs199693673
|
0.00036
|
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.2670C>T (p.Asn890=)
|
rs547601879
|
0.00034
|
NM_001009944.3(PKD1):c.423G>A (p.Glu141=)
|
rs9932419
|
0.00034
|
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=)
|
rs373880615
|
0.00033
|
NM_001009944.3(PKD1):c.10619-13del
|
rs562614426
|
0.00033
|
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)
|
rs140662778
|
0.00033
|
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.8017G>C (p.Gly2673Arg)
|
rs563412045
|
0.00032
|
NM_001009944.3(PKD1):c.8042G>A (p.Arg2681His)
|
rs200742306
|
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_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.5363G>A (p.Gly1788Asp)
|
rs201778279
|
0.00031
|
NM_001009944.3(PKD1):c.2707A>G (p.Ser903Gly)
|
rs4018172
|
0.00030
|
NM_001009944.3(PKD1):c.7258A>G (p.Thr2420Ala)
|
rs141293772
|
0.00030
|
NM_001009944.3(PKD1):c.10221-14C>T
|
rs201207354
|
0.00029
|
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)
|
rs374500158
|
0.00029
|
NM_001009944.3(PKD1):c.8618C>T (p.Thr2873Ile)
|
rs148378229
|
0.00029
|
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His)
|
rs200168879
|
0.00029
|
NM_001009944.3(PKD1):c.313A>T (p.Thr105Ser)
|
rs200420603
|
0.00028
|
NM_001009944.3(PKD1):c.827C>T (p.Thr276Ile)
|
rs527780704
|
0.00028
|
NM_001009944.3(PKD1):c.8948+34C>T
|
rs200573404
|
0.00028
|
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=)
|
rs149331148
|
0.00027
|
NM_001009944.3(PKD1):c.12570C>T (p.Ser4190=)
|
rs140421738
|
0.00027
|
NM_001009944.3(PKD1):c.4232G>A (p.Arg1411His)
|
rs371937874
|
0.00027
|
NM_001009944.3(PKD1):c.4657G>A (p.Val1553Ile)
|
rs200049385
|
0.00027
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00026
|
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp)
|
rs536586062
|
0.00026
|
NM_001009944.3(PKD1):c.2813C>T (p.Thr938Met)
|
rs74488735
|
0.00026
|
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val)
|
rs779745348
|
0.00026
|
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met)
|
rs564570407
|
0.00026
|
NM_001009944.3(PKD1):c.7476C>T (p.His2492=)
|
rs763615650
|
0.00026
|
NM_001009944.3(PKD1):c.10168-36G>C
|
rs373592524
|
0.00025
|
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu)
|
rs147464577
|
0.00025
|
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=)
|
rs376075101
|
0.00025
|
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met)
|
rs147141131
|
0.00025
|
NM_001009944.3(PKD1):c.6603A>G (p.Pro2201=)
|
rs751666019
|
0.00025
|
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=)
|
rs181130940
|
0.00025
|
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val)
|
rs183084156
|
0.00025
|
NM_001009944.3(PKD1):c.8609G>A (p.Arg2870His)
|
rs200763681
|
0.00025
|
NM_001009944.3(PKD1):c.10939C>T (p.Arg3647Trp)
|
rs181927900
|
0.00024
|
NM_001009944.3(PKD1):c.1723-74A>C
|
rs763895988
|
0.00024
|
NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys)
|
rs138672759
|
0.00024
|
NM_001009944.3(PKD1):c.674C>T (p.Ser225Leu)
|
rs748021456
|
0.00024
|
NM_001009944.3(PKD1):c.6882C>T (p.Leu2294=)
|
rs758337073
|
0.00024
|
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr)
|
rs529066905
|
0.00024
|
NM_001009944.3(PKD1):c.8087T>C (p.Leu2696Pro)
|
rs201238819
|
0.00024
|
NM_001009944.3(PKD1):c.8593C>T (p.Arg2865Trp)
|
rs370251642
|
0.00024
|
NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys)
|
rs145906459
|
0.00024
|
NM_001009944.3(PKD1):c.11156+36C>T
|
rs369188265
|
0.00023
|
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp)
|
rs551353498
|
0.00023
|
NM_001009944.3(PKD1):c.242C>T (p.Ala81Val)
|
rs531570028
|
0.00023
|
NM_001009944.3(PKD1):c.3031G>A (p.Val1011Ile)
|
rs2369066
|
0.00023
|
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala)
|
rs2239671
|
0.00023
|
NM_001009944.3(PKD1):c.8334C>T (p.Gly2778=)
|
rs559071281
|
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.2098-10C>T
|
rs561391461
|
0.00022
|
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser)
|
rs150710956
|
0.00022
|
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln)
|
rs374129201
|
0.00022
|
NM_001009944.3(PKD1):c.7622C>T (p.Pro2541Leu)
|
rs538031465
|
0.00022
|
NM_001009944.3(PKD1):c.8162-12G>A
|
rs375993328
|
0.00022
|
NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile)
|
rs145532417
|
0.00022
|
NM_001009944.3(PKD1):c.10363C>T (p.Leu3455=)
|
rs114102239
|
0.00021
|
NM_001009944.3(PKD1):c.288-20G>A
|
rs572319823
|
0.00021
|
NM_001009944.3(PKD1):c.5457C>T (p.Ala1819=)
|
rs532521117
|
0.00021
|
NM_001009944.3(PKD1):c.6160G>C (p.Val2054Leu)
|
rs139419984
|
0.00021
|
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln)
|
rs201021499
|
0.00021
|
NM_001009944.3(PKD1):c.8281C>T (p.Arg2761Cys)
|
rs138256927
|
0.00021
|
NM_001009944.3(PKD1):c.8395G>A (p.Ala2799Thr)
|
rs554089372
|
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.2032G>A (p.Ala678Thr)
|
rs377664718
|
0.00020
|
NM_001009944.3(PKD1):c.2081C>T (p.Pro694Leu)
|
rs138575342
|
0.00020
|
NM_001009944.3(PKD1):c.2910C>T (p.Asn970=)
|
rs141593727
|
0.00020
|
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr)
|
rs201599671
|
0.00020
|
NM_001009944.3(PKD1):c.6205G>A (p.Gly2069Ser)
|
rs148363380
|
0.00020
|
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys)
|
rs150154235
|
0.00020
|
NM_001009944.3(PKD1):c.723_725del (p.Phe242del)
|
rs762697451
|
0.00020
|
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)
|
rs556618384
|
0.00020
|
NM_001009944.3(PKD1):c.9548G>A (p.Arg3183Gln)
|
rs79648977
|
0.00020
|
NM_001009944.3(PKD1):c.1117C>G (p.Leu373Val)
|
rs765067070
|
0.00019
|
NM_001009944.3(PKD1):c.1376G>A (p.Arg459Gln)
|
rs776837561
|
0.00019
|
NM_001009944.3(PKD1):c.1745G>A (p.Arg582His)
|
rs541222739
|
0.00019
|
NM_001009944.3(PKD1):c.1971C>T (p.Asp657=)
|
rs754358948
|
0.00019
|
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)
|
rs372882189
|
0.00019
|
NM_001009944.3(PKD1):c.4779G>C (p.Gly1593=)
|
rs138857576
|
0.00019
|
NM_001009944.3(PKD1):c.6180C>T (p.Ala2060=)
|
rs200782383
|
0.00019
|
NM_001009944.3(PKD1):c.6915+19C>T
|
rs371376951
|
0.00019
|
NM_001009944.3(PKD1):c.7463C>T (p.Thr2488Ile)
|
rs755367165
|
0.00019
|
NM_001009944.3(PKD1):c.7711G>C (p.Ala2571Pro)
|
rs749853995
|
0.00019
|
NM_001009944.3(PKD1):c.8310C>T (p.Asn2770=)
|
rs149828605
|
0.00019
|
NM_001009944.3(PKD1):c.8324C>T (p.Thr2775Met)
|
rs186826765
|
0.00019
|
NM_001009944.3(PKD1):c.9451C>T (p.His3151Tyr)
|
rs149872222
|
0.00019
|
NM_001009944.3(PKD1):c.9668C>T (p.Thr3223Met)
|
rs202227418
|
0.00019
|
NM_001009944.3(PKD1):c.10168-8C>T
|
rs199808929
|
0.00018
|
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)
|
rs201409107
|
0.00018
|
NM_001009944.3(PKD1):c.10920C>T (p.Ser3640=)
|
rs150388984
|
0.00018
|
NM_001009944.3(PKD1):c.11412-6C>T
|
rs367775096
|
0.00018
|
NM_001009944.3(PKD1):c.12818G>A (p.Arg4273His)
|
rs200446880
|
0.00018
|
NM_001009944.3(PKD1):c.5665G>A (p.Gly1889Ser)
|
rs138471993
|
0.00018
|
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His)
|
rs375198888
|
0.00018
|
NM_001009944.3(PKD1):c.9740G>A (p.Arg3247His)
|
rs140791671
|
0.00018
|
NM_001009944.3(PKD1):c.*8T>G
|
rs767068030
|
0.00017
|
NM_001009944.3(PKD1):c.11799C>T (p.Leu3933=)
|
rs900006933
|
0.00017
|
NM_001009944.3(PKD1):c.216-4611C>T
|
rs567827344
|
0.00017
|
NM_001009944.3(PKD1):c.288G>A (p.Leu96=)
|
rs774219994
|
0.00017
|
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp)
|
rs746771378
|
0.00017
|
NM_001009944.3(PKD1):c.3120G>A (p.Thr1040=)
|
rs747215688
|
0.00017
|
NM_001009944.3(PKD1):c.3726G>A (p.Thr1242=)
|
rs146243410
|
0.00017
|
NM_001009944.3(PKD1):c.462G>A (p.Thr154=)
|
rs1273285764
|
0.00017
|
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=)
|
rs377662680
|
0.00017
|
NM_001009944.3(PKD1):c.5913G>A (p.Val1971=)
|
rs200626823
|
0.00017
|
NM_001009944.3(PKD1):c.6099G>A (p.Ala2033=)
|
rs376744819
|
0.00017
|
NM_001009944.3(PKD1):c.7278T>C (p.Ser2426=)
|
rs2575311
|
0.00017
|
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg)
|
rs749291211
|
0.00017
|
NM_001009944.3(PKD1):c.8751G>A (p.Ala2917=)
|
rs746333408
|
0.00017
|
NM_001009944.3(PKD1):c.10405+7T>C
|
rs201762369
|
0.00016
|
NM_001009944.3(PKD1):c.12075G>A (p.Glu4025=)
|
rs754786423
|
0.00016
|
NM_001009944.3(PKD1):c.138C>T (p.Ala46=)
|
rs1042072043
|
0.00016
|
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=)
|
rs759092782
|
0.00016
|
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln)
|
rs759950842
|
0.00016
|
NM_001009944.3(PKD1):c.2433C>G (p.Leu811=)
|
rs756852012
|
0.00016
|
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=)
|
rs767721989
|
0.00016
|
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys)
|
rs773407492
|
0.00016
|
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys)
|
rs765009165
|
0.00016
|
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr)
|
rs764822533
|
0.00016
|
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln)
|
rs1800569
|
0.00016
|
NM_001009944.3(PKD1):c.8331G>A (p.Ala2777=)
|
rs201589702
|
0.00016
|
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=)
|
rs374619113
|
0.00016
|
NM_001009944.3(PKD1):c.10161C>T (p.His3387=)
|
rs143350197
|
0.00015
|
NM_001009944.3(PKD1):c.10316G>A (p.Arg3439Gln)
|
rs138546384
|
0.00015
|
NM_001009944.3(PKD1):c.1151G>A (p.Gly384Asp)
|
rs927924905
|
0.00015
|
NM_001009944.3(PKD1):c.11713-23C>T
|
rs768264052
|
0.00015
|
NM_001009944.3(PKD1):c.1889C>T (p.Pro630Leu)
|
rs556265337
|
0.00015
|
NM_001009944.3(PKD1):c.2017C>G (p.Pro673Ala)
|
rs372961544
|
0.00015
|
NM_001009944.3(PKD1):c.4073C>T (p.Ala1358Val)
|
rs376991027
|
0.00015
|
NM_001009944.3(PKD1):c.4340C>T (p.Ala1447Val)
|
rs76981724
|
0.00015
|
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=)
|
rs146103326
|
0.00015
|
NM_001009944.3(PKD1):c.543C>T (p.Val181=)
|
rs1365608859
|
0.00015
|
NM_001009944.3(PKD1):c.5628A>G (p.Ser1876=)
|
rs148161933
|
0.00015
|
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg)
|
rs200001471
|
0.00015
|
NM_001009944.3(PKD1):c.7241C>T (p.Thr2414Met)
|
rs201267349
|
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.10168-34G>A
|
rs183682478
|
0.00014
|
NM_001009944.3(PKD1):c.12399C>T (p.Phe4133=)
|
rs116309559
|
0.00014
|
NM_001009944.3(PKD1):c.1758A>C (p.Glu586Asp)
|
rs766424461
|
0.00014
|
NM_001009944.3(PKD1):c.2009C>T (p.Thr670Met)
|
rs377136828
|
0.00014
|
NM_001009944.3(PKD1):c.2773C>T (p.Arg925Trp)
|
rs549638171
|
0.00014
|
NM_001009944.3(PKD1):c.3069G>C (p.Gln1023His)
|
rs568163462
|
0.00014
|
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser)
|
rs146527465
|
0.00014
|
NM_001009944.3(PKD1):c.5403T>C (p.Pro1801=)
|
rs140840050
|
0.00014
|
NM_001009944.3(PKD1):c.5739C>T (p.Ala1913=)
|
rs753873060
|
0.00014
|
NM_001009944.3(PKD1):c.5758C>T (p.Arg1920Cys)
|
rs185746648
|
0.00014
|
NM_001009944.3(PKD1):c.6224G>A (p.Arg2075His)
|
rs200930978
|
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.10601C>T (p.Ala3534Val)
|
rs550305727
|
0.00013
|
NM_001009944.3(PKD1):c.10643G>A (p.Arg3548His)
|
rs62624465
|
0.00013
|
NM_001009944.3(PKD1):c.11713-11G>A
|
rs780999638
|
0.00013
|
NM_001009944.3(PKD1):c.2051G>T (p.Arg684Ile)
|
rs563459215
|
0.00013
|
NM_001009944.3(PKD1):c.288-32A>G
|
rs56205732
|
0.00013
|
NM_001009944.3(PKD1):c.3994G>A (p.Asp1332Asn)
|
rs773388081
|
0.00013
|
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys)
|
rs770514810
|
0.00013
|
NM_001009944.3(PKD1):c.4193C>T (p.Ala1398Val)
|
rs147796956
|
0.00013
|
NM_001009944.3(PKD1):c.419C>T (p.Ala140Val)
|
rs758309702
|
0.00013
|
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser)
|
rs780408550
|
0.00013
|
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=)
|
rs183090717
|
0.00013
|
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser)
|
rs199947459
|
0.00013
|
NM_001009944.3(PKD1):c.6439C>T (p.Arg2147Trp)
|
rs140880305
|
0.00013
|
NM_001009944.3(PKD1):c.6593C>T (p.Pro2198Leu)
|
rs559786408
|
0.00013
|
NM_001009944.3(PKD1):c.6819C>G (p.Asp2273Glu)
|
rs372298966
|
0.00013
|
NM_001009944.3(PKD1):c.7791A>G (p.Pro2597=)
|
rs566533475
|
0.00013
|
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=)
|
rs143124196
|
0.00013
|
NM_001009944.3(PKD1):c.8267C>T (p.Thr2756Ile)
|
rs141296093
|
0.00013
|
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val)
|
rs17135779
|
0.00013
|
NM_001009944.3(PKD1):c.9169G>A (p.Val3057Met)
|
rs778055216
|
0.00013
|
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp)
|
rs374486955
|
0.00012
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
NM_001009944.3(PKD1):c.4254C>T (p.Thr1418=)
|
rs534285695
|
0.00012
|
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=)
|
rs372696163
|
0.00012
|
NM_001009944.3(PKD1):c.6572G>A (p.Arg2191His)
|
rs774490045
|
0.00012
|
NM_001009944.3(PKD1):c.7448C>T (p.Ala2483Val)
|
rs759448663
|
0.00012
|
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=)
|
rs754894798
|
0.00012
|
NM_001009944.3(PKD1):c.12138+15G>A
|
rs370784448
|
0.00011
|
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=)
|
rs561467860
|
0.00011
|
NM_001009944.3(PKD1):c.2221C>T (p.Pro741Ser)
|
rs753325067
|
0.00011
|
NM_001009944.3(PKD1):c.2232C>T (p.Ser744=)
|
rs553802995
|
0.00011
|
NM_001009944.3(PKD1):c.3525G>A (p.Pro1175=)
|
rs375443604
|
0.00011
|
NM_001009944.3(PKD1):c.359+34G>A
|
rs781038728
|
0.00011
|
NM_001009944.3(PKD1):c.3685G>A (p.Val1229Met)
|
rs142712914
|
0.00011
|
NM_001009944.3(PKD1):c.4695C>T (p.Ser1565=)
|
rs781264169
|
0.00011
|
NM_001009944.3(PKD1):c.4788C>T (p.Thr1596=)
|
rs200233435
|
0.00011
|
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met)
|
rs767665300
|
0.00011
|
NM_001009944.3(PKD1):c.5704G>A (p.Gly1902Arg)
|
rs370479407
|
0.00011
|
NM_001009944.3(PKD1):c.6041A>G (p.Gln2014Arg)
|
rs562416414
|
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.7605C>T (p.Tyr2535=)
|
rs146363575
|
0.00011
|
NM_001009944.3(PKD1):c.7631G>A (p.Arg2544Lys)
|
rs770573212
|
0.00011
|
NM_001009944.3(PKD1):c.7918G>T (p.Ala2640Ser)
|
rs768100426
|
0.00011
|
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr)
|
rs556305338
|
0.00011
|
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=)
|
rs757969966
|
0.00011
|
NM_001009944.3(PKD1):c.8755G>A (p.Gly2919Arg)
|
rs139438157
|
0.00011
|
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn)
|
rs150189496
|
0.00011
|
NM_001009944.3(PKD1):c.9277G>A (p.Ala3093Thr)
|
rs111458906
|
0.00011
|
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg)
|
rs777024498
|
0.00011
|
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp)
|
rs769208706
|
0.00010
|
NM_001009944.3(PKD1):c.10765C>T (p.Leu3589Phe)
|
rs766006113
|
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.2238C>T (p.Asn746=)
|
rs577204608
|
0.00010
|
NM_001009944.3(PKD1):c.2829C>G (p.Ala943=)
|
rs138451801
|
0.00010
|
NM_001009944.3(PKD1):c.3486C>G (p.Asp1162Glu)
|
rs144211349
|
0.00010
|
NM_001009944.3(PKD1):c.3854G>A (p.Arg1285Gln)
|
rs368189158
|
0.00010
|
NM_001009944.3(PKD1):c.4014C>T (p.Thr1338=)
|
rs577199866
|
0.00010
|
NM_001009944.3(PKD1):c.410C>T (p.Pro137Leu)
|
rs531501851
|
0.00010
|
NM_001009944.3(PKD1):c.4220C>T (p.Pro1407Leu)
|
rs140412120
|
0.00010
|
NM_001009944.3(PKD1):c.4823A>G (p.Asn1608Ser)
|
rs370634315
|
0.00010
|
NM_001009944.3(PKD1):c.5851C>A (p.Arg1951=)
|
rs191717700
|
0.00010
|
NM_001009944.3(PKD1):c.6091G>A (p.Val2031Met)
|
rs765389584
|
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.7906C>T (p.Arg2636Trp)
|
rs200907085
|
0.00010
|
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=)
|
rs142391112
|
0.00010
|
NM_001009944.3(PKD1):c.8392G>A (p.Gly2798Ser)
|
rs139544953
|
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.9271A>G (p.Met3091Val)
|
rs762312189
|
0.00010
|
NM_001009944.3(PKD1):c.10099A>G (p.Ile3367Val)
|
rs773989174
|
0.00009
|
NM_001009944.3(PKD1):c.10102G>A (p.Asp3368Asn)
|
rs762866943
|
0.00009
|
NM_001009944.3(PKD1):c.10391C>T (p.Ser3464Phe)
|
rs375501810
|
0.00009
|
NM_001009944.3(PKD1):c.10530G>A (p.Thr3510=)
|
rs150681642
|
0.00009
|
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=)
|
rs201417193
|
0.00009
|
NM_001009944.3(PKD1):c.11135G>A (p.Arg3712Gln)
|
rs144624467
|
0.00009
|
NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=)
|
rs778410054
|
0.00009
|
NM_001009944.3(PKD1):c.12051G>C (p.Lys4017Asn)
|
rs151044657
|
0.00009
|
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr)
|
rs201035636
|
0.00009
|
NM_001009944.3(PKD1):c.12648A>C (p.Gln4216His)
|
rs751511886
|
0.00009
|
NM_001009944.3(PKD1):c.1673C>T (p.Thr558Met)
|
rs781572938
|
0.00009
|
NM_001009944.3(PKD1):c.1799G>A (p.Arg600Gln)
|
rs572116802
|
0.00009
|
NM_001009944.3(PKD1):c.2110G>A (p.Gly704Ser)
|
rs1049286401
|
0.00009
|
NM_001009944.3(PKD1):c.2548G>A (p.Asp850Asn)
|
rs756092510
|
0.00009
|
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met)
|
rs552292318
|
0.00009
|
NM_001009944.3(PKD1):c.3409G>A (p.Val1137Ile)
|
rs375354209
|
0.00009
|
NM_001009944.3(PKD1):c.3796C>T (p.Arg1266Trp)
|
rs376754657
|
0.00009
|
NM_001009944.3(PKD1):c.4053G>T (p.Arg1351=)
|
rs371149993
|
0.00009
|
NM_001009944.3(PKD1):c.5449G>A (p.Val1817Met)
|
rs149713462
|
0.00009
|
NM_001009944.3(PKD1):c.6228G>A (p.Ser2076=)
|
rs375634036
|
0.00009
|
NM_001009944.3(PKD1):c.6457G>A (p.Val2153Met)
|
rs779219568
|
0.00009
|
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp)
|
rs373256534
|
0.00009
|
NM_001009944.3(PKD1):c.6599G>A (p.Arg2200His)
|
rs372375123
|
0.00009
|
NM_001009944.3(PKD1):c.6935C>T (p.Ala2312Val)
|
rs533284364
|
0.00009
|
NM_001009944.3(PKD1):c.8161+15G>A
|
rs776023570
|
0.00009
|
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp)
|
rs751031560
|
0.00009
|
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=)
|
rs556575921
|
0.00009
|
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys)
|
rs374629549
|
0.00009
|
NM_001009944.3(PKD1):c.8671G>A (p.Ala2891Thr)
|
rs557892623
|
0.00009
|
NM_001009944.3(PKD1):c.8716G>A (p.Gly2906Ser)
|
rs376611349
|
0.00009
|
NM_001009944.3(PKD1):c.8942C>A (p.Ser2981Tyr)
|
rs767311081
|
0.00009
|
NM_001009944.3(PKD1):c.9035C>T (p.Thr3012Met)
|
rs376160782
|
0.00009
|
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys)
|
rs543328728
|
0.00009
|
NM_001009944.3(PKD1):c.10005C>T (p.Pro3335=)
|
rs778931785
|
0.00008
|
NM_001009944.3(PKD1):c.10447A>C (p.Ser3483Arg)
|
rs370702171
|
0.00008
|
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile)
|
rs751776839
|
0.00008
|
NM_001009944.3(PKD1):c.12705C>T (p.Asp4235=)
|
rs115272730
|
0.00008
|
NM_001009944.3(PKD1):c.12766G>A (p.Ala4256Thr)
|
rs376769777
|
0.00008
|
NM_001009944.3(PKD1):c.2213C>T (p.Pro738Leu)
|
rs556791789
|
0.00008
|
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala)
|
rs766549097
|
0.00008
|
NM_001009944.3(PKD1):c.3903C>T (p.Pro1301=)
|
rs755858661
|
0.00008
|
NM_001009944.3(PKD1):c.4486G>A (p.Ala1496Thr)
|
rs557937095
|
0.00008
|
NM_001009944.3(PKD1):c.4512C>T (p.Asp1504=)
|
rs774929658
|
0.00008
|
NM_001009944.3(PKD1):c.4858G>A (p.Ala1620Thr)
|
rs376572189
|
0.00008
|
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe)
|
rs543561238
|
0.00008
|
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=)
|
rs146915755
|
0.00008
|
NM_001009944.3(PKD1):c.5957C>T (p.Thr1986Met)
|
rs200139724
|
0.00008
|
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)
|
rs530832015
|
0.00008
|
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln)
|
rs62038819
|
0.00008
|
NM_001009944.3(PKD1):c.7344C>G (p.Leu2448=)
|
rs2258975
|
0.00008
|
NM_001009944.3(PKD1):c.8016+7T>C
|
rs746089639
|
0.00008
|
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln)
|
rs367746233
|
0.00008
|
NM_001009944.3(PKD1):c.8529C>T (p.Thr2843=)
|
rs370953279
|
0.00008
|
NM_001009944.3(PKD1):c.8620G>A (p.Val2874Met)
|
rs574287355
|
0.00008
|
NM_001009944.3(PKD1):c.8744A>G (p.Asn2915Ser)
|
rs533221512
|
0.00008
|
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=)
|
rs1159235832
|
0.00008
|
NM_001009944.3(PKD1):c.9597C>T (p.His3199=)
|
rs1415765353
|
0.00008
|
NM_001009944.3(PKD1):c.10051-9G>A
|
rs541480160
|
0.00007
|
NM_001009944.3(PKD1):c.10101C>T (p.Ile3367=)
|
rs535964972
|
0.00007
|
NM_001009944.3(PKD1):c.10168-43C>T
|
rs372230405
|
0.00007
|
NM_001009944.3(PKD1):c.10366G>A (p.Ala3456Thr)
|
rs370498086
|
0.00007
|
NM_001009944.3(PKD1):c.11473C>T (p.Leu3825=)
|
rs151157369
|
0.00007
|
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)
|
rs374609310
|
0.00007
|
NM_001009944.3(PKD1):c.11713-16A>C
|
rs1402961732
|
0.00007
|
NM_001009944.3(PKD1):c.1202-8G>A
|
rs560799680
|
0.00007
|
NM_001009944.3(PKD1):c.12569C>T (p.Ser4190Phe)
|
rs547854563
|
0.00007
|
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=)
|
rs1344519371
|
0.00007
|
NM_001009944.3(PKD1):c.2157C>T (p.His719=)
|
rs545699501
|
0.00007
|
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser)
|
rs766302578
|
0.00007
|
NM_001009944.3(PKD1):c.287+4A>C
|
rs543559059
|
0.00007
|
NM_001009944.3(PKD1):c.3937C>T (p.Leu1313Phe)
|
rs370037119
|
0.00007
|
NM_001009944.3(PKD1):c.4481G>A (p.Arg1494His)
|
rs559596651
|
0.00007
|
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)
|
rs746910149
|
0.00007
|
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser)
|
rs544092291
|
0.00007
|
NM_001009944.3(PKD1):c.5772C>T (p.Gly1924=)
|
rs541661201
|
0.00007
|
NM_001009944.3(PKD1):c.6098C>T (p.Ala2033Val)
|
rs557932393
|
0.00007
|
NM_001009944.3(PKD1):c.6209C>G (p.Pro2070Arg)
|
rs754944119
|
0.00007
|
NM_001009944.3(PKD1):c.6244G>A (p.Ala2082Thr)
|
rs377235337
|
0.00007
|
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val)
|
rs769636582
|
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.8195G>A (p.Arg2732Gln)
|
rs78185588
|
0.00007
|
NM_001009944.3(PKD1):c.8850C>T (p.Pro2950=)
|
rs748155379
|
0.00007
|
NM_001009944.3(PKD1):c.9006G>A (p.Ser3002=)
|
rs367709319
|
0.00007
|
NM_001009944.3(PKD1):c.9204G>C (p.Glu3068Asp)
|
rs552766795
|
0.00007
|
NM_001009944.3(PKD1):c.9862A>G (p.Ile3288Val)
|
rs146756469
|
0.00007
|
NM_001009944.3(PKD1):c.9969C>T (p.Val3323=)
|
rs769133682
|
0.00007
|
NM_001009944.3(PKD1):c.10141C>T (p.Leu3381Phe)
|
rs142799331
|
0.00006
|
NM_001009944.3(PKD1):c.10220+33G>A
|
rs755957931
|
0.00006
|
NM_001009944.3(PKD1):c.10429C>A (p.Leu3477Ile)
|
rs62621452
|
0.00006
|
NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp)
|
rs140389000
|
0.00006
|
NM_001009944.3(PKD1):c.11627C>T (p.Ala3876Val)
|
rs759962601
|
0.00006
|
NM_001009944.3(PKD1):c.12171C>T (p.Ser4057=)
|
rs140154490
|
0.00006
|
NM_001009944.3(PKD1):c.2416G>A (p.Val806Met)
|
rs1219493715
|
0.00006
|
NM_001009944.3(PKD1):c.2643C>T (p.Phe881=)
|
rs765764257
|
0.00006
|
NM_001009944.3(PKD1):c.266A>C (p.Asn89Thr)
|
rs1434978033
|
0.00006
|
NM_001009944.3(PKD1):c.2854-12T>G
|
rs1446095876
|
0.00006
|
NM_001009944.3(PKD1):c.2949T>C (p.Asn983=)
|
rs766568622
|
0.00006
|
NM_001009944.3(PKD1):c.3003C>T (p.His1001=)
|
rs573141367
|
0.00006
|
NM_001009944.3(PKD1):c.3239C>A (p.Pro1080His)
|
rs746334905
|
0.00006
|
NM_001009944.3(PKD1):c.3595G>A (p.Gly1199Ser)
|
rs550230113
|
0.00006
|
NM_001009944.3(PKD1):c.37C>G (p.Leu13Val)
|
rs982042024
|
0.00006
|
NM_001009944.3(PKD1):c.4019G>A (p.Arg1340Gln)
|
rs377331478
|
0.00006
|
NM_001009944.3(PKD1):c.413G>A (p.Arg138Gln)
|
rs2515725
|
0.00006
|
NM_001009944.3(PKD1):c.4916G>C (p.Gly1639Ala)
|
rs1178172751
|
0.00006
|
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
|
rs374424212
|
0.00006
|
NM_001009944.3(PKD1):c.5180C>T (p.Pro1727Leu)
|
rs373060372
|
0.00006
|
NM_001009944.3(PKD1):c.5483A>G (p.Gln1828Arg)
|
rs563854855
|
0.00006
|
NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=)
|
rs773475991
|
0.00006
|
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr)
|
rs779342040
|
0.00006
|
NM_001009944.3(PKD1):c.7190G>A (p.Ser2397Asn)
|
rs769942813
|
0.00006
|
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser)
|
rs376618983
|
0.00006
|
NM_001009944.3(PKD1):c.7490-19C>T
|
rs767603290
|
0.00006
|
NM_001009944.3(PKD1):c.7490-38C>T
|
rs775658891
|
0.00006
|
NM_001009944.3(PKD1):c.7852G>A (p.Val2618Met)
|
rs376969316
|
0.00006
|
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val)
|
rs1353004865
|
0.00006
|
NM_001009944.3(PKD1):c.8186C>T (p.Ser2729Leu)
|
rs371541730
|
0.00006
|
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe)
|
rs771382752
|
0.00006
|
NM_001009944.3(PKD1):c.8325G>A (p.Thr2775=)
|
rs540387350
|
0.00006
|
NM_001009944.3(PKD1):c.8405C>T (p.Pro2802Leu)
|
rs534112936
|
0.00006
|
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys)
|
rs777608163
|
0.00006
|
NM_001009944.3(PKD1):c.8473C>T (p.Leu2825Phe)
|
rs138058871
|
0.00006
|
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met)
|
rs544100161
|
0.00006
|
NM_001009944.3(PKD1):c.8921G>A (p.Arg2974Gln)
|
rs369012743
|
0.00006
|
NM_001009944.3(PKD1):c.8963C>T (p.Ala2988Val)
|
rs765076655
|
0.00006
|
NM_001009944.3(PKD1):c.8994C>T (p.His2998=)
|
rs776013663
|
0.00006
|
NM_001009944.3(PKD1):c.9620C>T (p.Thr3207Met)
|
rs200214266
|
0.00006
|
NM_001009944.3(PKD1):c.9625C>T (p.Arg3209Cys)
|
rs147967021
|
0.00006
|
NM_001009944.3(PKD1):c.1001C>T (p.Thr334Met)
|
rs4018169
|
0.00005
|
NM_001009944.3(PKD1):c.10663G>A (p.Ala3555Thr)
|
rs756463775
|
0.00005
|
NM_001009944.3(PKD1):c.11848C>T (p.Leu3950=)
|
rs1450142696
|
0.00005
|
NM_001009944.3(PKD1):c.11978C>T (p.Ser3993Leu)
|
rs775512866
|
0.00005
|
NM_001009944.3(PKD1):c.1202-10C>T
|
rs529554291
|
0.00005
|
NM_001009944.3(PKD1):c.12486C>A (p.Pro4162=)
|
rs759210811
|
0.00005
|
NM_001009944.3(PKD1):c.12803C>T (p.Pro4268Leu)
|
rs767385060
|
0.00005
|
NM_001009944.3(PKD1):c.12862A>G (p.Ser4288Gly)
|
rs202176473
|
0.00005
|
NM_001009944.3(PKD1):c.1311G>A (p.Gln437=)
|
rs759822811
|
0.00005
|
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr)
|
rs757107371
|
0.00005
|
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=)
|
rs748123570
|
0.00005
|
NM_001009944.3(PKD1):c.1837C>A (p.Leu613Ile)
|
rs769063419
|
0.00005
|
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg)
|
rs1050939771
|
0.00005
|
NM_001009944.3(PKD1):c.2319A>G (p.Ala773=)
|
rs537747463
|
0.00005
|
NM_001009944.3(PKD1):c.2524G>A (p.Gly842Ser)
|
rs542875543
|
0.00005
|
NM_001009944.3(PKD1):c.2748C>T (p.Ser916=)
|
rs149777511
|
0.00005
|
NM_001009944.3(PKD1):c.2807G>A (p.Arg936His)
|
rs369076601
|
0.00005
|
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser)
|
rs752995047
|
0.00005
|
NM_001009944.3(PKD1):c.3368G>A (p.Arg1123His)
|
rs137863236
|
0.00005
|
NM_001009944.3(PKD1):c.3837C>T (p.Pro1279=)
|
rs146876403
|
0.00005
|
NM_001009944.3(PKD1):c.3906C>T (p.Ala1302=)
|
rs547817931
|
0.00005
|
NM_001009944.3(PKD1):c.3968A>G (p.His1323Arg)
|
rs372687490
|
0.00005
|
NM_001009944.3(PKD1):c.4361C>T (p.Ala1454Val)
|
rs138617048
|
0.00005
|
NM_001009944.3(PKD1):c.4510G>A (p.Asp1504Asn)
|
rs138882156
|
0.00005
|
NM_001009944.3(PKD1):c.4531C>T (p.Pro1511Ser)
|
rs535735521
|
0.00005
|
NM_001009944.3(PKD1):c.4541C>G (p.Thr1514Ser)
|
rs779030441
|
0.00005
|
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=)
|
rs759043048
|
0.00005
|
NM_001009944.3(PKD1):c.4737C>T (p.Arg1579=)
|
rs765027813
|
0.00005
|
NM_001009944.3(PKD1):c.4743C>G (p.Ser1581=)
|
rs759544640
|
0.00005
|
NM_001009944.3(PKD1):c.4905G>A (p.Leu1635=)
|
rs748967532
|
0.00005
|
NM_001009944.3(PKD1):c.4946C>T (p.Thr1649Met)
|
rs761106434
|
0.00005
|
NM_001009944.3(PKD1):c.5244C>T (p.Val1748=)
|
rs752440626
|
0.00005
|
NM_001009944.3(PKD1):c.5431G>A (p.Glu1811Lys)
|
rs778028644
|
0.00005
|
NM_001009944.3(PKD1):c.5458G>A (p.Gly1820Arg)
|
rs755245568
|
0.00005
|
NM_001009944.3(PKD1):c.5571G>A (p.Pro1857=)
|
rs564598290
|
0.00005
|
NM_001009944.3(PKD1):c.5688C>G (p.Ser1896Arg)
|
rs766509980
|
0.00005
|
NM_001009944.3(PKD1):c.5933A>G (p.Asn1978Ser)
|
rs373707925
|
0.00005
|
NM_001009944.3(PKD1):c.5984G>A (p.Arg1995His)
|
rs752388015
|
0.00005
|
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=)
|
rs556708086
|
0.00005
|
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu)
|
rs145762096
|
0.00005
|
NM_001009944.3(PKD1):c.6070C>T (p.Arg2024Cys)
|
rs199943712
|
0.00005
|
NM_001009944.3(PKD1):c.6080C>G (p.Thr2027Ser)
|
rs750202352
|
0.00005
|
NM_001009944.3(PKD1):c.6227C>T (p.Ser2076Leu)
|
rs758919000
|
0.00005
|
NM_001009944.3(PKD1):c.6265C>T (p.Arg2089Cys)
|
rs751969265
|
0.00005
|
NM_001009944.3(PKD1):c.6271G>T (p.Ala2091Ser)
|
rs1449648091
|
0.00005
|
NM_001009944.3(PKD1):c.6299C>T (p.Ser2100Leu)
|
rs539793378
|
0.00005
|
NM_001009944.3(PKD1):c.6577G>A (p.Ala2193Thr)
|
rs371909255
|
0.00005
|
NM_001009944.3(PKD1):c.6953G>A (p.Arg2318His)
|
rs1257259960
|
0.00005
|
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys)
|
rs781114712
|
0.00005
|
NM_001009944.3(PKD1):c.7466C>G (p.Thr2489Ser)
|
rs754358218
|
0.00005
|
NM_001009944.3(PKD1):c.7488G>A (p.Thr2496=)
|
rs776604789
|
0.00005
|
NM_001009944.3(PKD1):c.7516G>A (p.Ala2506Thr)
|
rs755942659
|
0.00005
|
NM_001009944.3(PKD1):c.7656C>T (p.Ala2552=)
|
rs564339628
|
0.00005
|
NM_001009944.3(PKD1):c.7870C>T (p.Arg2624Trp)
|
rs766658912
|
0.00005
|
NM_001009944.3(PKD1):c.7887G>A (p.Ala2629=)
|
rs201902378
|
0.00005
|
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu)
|
rs151308544
|
0.00005
|
NM_001009944.3(PKD1):c.8191G>A (p.Val2731Met)
|
rs138906895
|
0.00005
|
NM_001009944.3(PKD1):c.8559C>G (p.Phe2853Leu)
|
rs757471042
|
0.00005
|
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
|
rs142733588
|
0.00005
|
NM_001009944.3(PKD1):c.880A>G (p.Ile294Val)
|
rs780058314
|
0.00005
|
NM_001009944.3(PKD1):c.8852G>A (p.Arg2951Gln)
|
rs555635571
|
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.957G>A (p.Pro319=)
|
rs62038821
|
0.00005
|
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys)
|
rs531854741
|
0.00005
|
NM_001009944.3(PKD1):c.997G>A (p.Val333Met)
|
rs772316684
|
0.00005
|
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=)
|
rs770635587
|
0.00005
|
NM_001009944.3(PKD1):c.10051-6C>T
|
rs749281950
|
0.00004
|
NM_001009944.3(PKD1):c.1021G>A (p.Ala341Thr)
|
rs2855337
|
0.00004
|
NM_001009944.3(PKD1):c.10250C>T (p.Thr3417Met)
|
rs377052445
|
0.00004
|
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser)
|
rs781492044
|
0.00004
|
NM_001009944.3(PKD1):c.10933C>T (p.Arg3645Cys)
|
rs765277688
|
0.00004
|
NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg)
|
rs562768017
|
0.00004
|
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys)
|
rs553106581
|
0.00004
|
NM_001009944.3(PKD1):c.1162G>A (p.Ala388Thr)
|
rs772111757
|
0.00004
|
NM_001009944.3(PKD1):c.11747T>C (p.Val3916Ala)
|
rs925883193
|
0.00004
|
NM_001009944.3(PKD1):c.11954C>G (p.Ser3985Cys)
|
rs749274013
|
0.00004
|
NM_001009944.3(PKD1):c.12146C>T (p.Ser4049Phe)
|
rs757666977
|
0.00004
|
NM_001009944.3(PKD1):c.12691C>A (p.Gln4231Lys)
|
rs755496450
|
0.00004
|
NM_001009944.3(PKD1):c.12799C>T (p.Arg4267Trp)
|
rs773037551
|
0.00004
|
NM_001009944.3(PKD1):c.1395C>T (p.Asp465=)
|
rs566839225
|
0.00004
|
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg)
|
rs776110243
|
0.00004
|
NM_001009944.3(PKD1):c.1723-17G>A
|
rs749856740
|
0.00004
|
NM_001009944.3(PKD1):c.2098-3C>T
|
rs1295368570
|
0.00004
|
NM_001009944.3(PKD1):c.216-8C>T
|
rs1157566139
|
0.00004
|
NM_001009944.3(PKD1):c.239G>A (p.Arg80Gln)
|
rs1190107349
|
0.00004
|
NM_001009944.3(PKD1):c.2550C>G (p.Asp850Glu)
|
rs750466610
|
0.00004
|
NM_001009944.3(PKD1):c.2585C>G (p.Pro862Arg)
|
rs761489072
|
0.00004
|
NM_001009944.3(PKD1):c.3087C>T (p.Ala1029=)
|
rs374628271
|
0.00004
|
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=)
|
rs369632433
|
0.00004
|
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=)
|
rs377661579
|
0.00004
|
NM_001009944.3(PKD1):c.3701C>T (p.Ala1234Val)
|
rs545640319
|
0.00004
|
NM_001009944.3(PKD1):c.3714C>T (p.Gly1238=)
|
rs769745056
|
0.00004
|
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu)
|
rs138096771
|
0.00004
|
NM_001009944.3(PKD1):c.4147G>A (p.Val1383Ile)
|
rs201627517
|
0.00004
|
NM_001009944.3(PKD1):c.429G>A (p.Gln143=)
|
rs765295197
|
0.00004
|
NM_001009944.3(PKD1):c.4355C>T (p.Ser1452Phe)
|
rs767435117
|
0.00004
|
NM_001009944.3(PKD1):c.4451C>T (p.Pro1484Leu)
|
rs759853409
|
0.00004
|
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=)
|
rs142035983
|
0.00004
|
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=)
|
rs772143717
|
0.00004
|
NM_001009944.3(PKD1):c.5245G>A (p.Val1749Ile)
|
rs765103218
|
0.00004
|
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro)
|
rs773527738
|
0.00004
|
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu)
|
rs767363184
|
0.00004
|
NM_001009944.3(PKD1):c.6123C>T (p.Arg2041=)
|
rs764087505
|
0.00004
|
NM_001009944.3(PKD1):c.634G>A (p.Ala212Thr)
|
rs930784426
|
0.00004
|
NM_001009944.3(PKD1):c.6666G>A (p.Ala2222=)
|
rs370851999
|
0.00004
|
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe)
|
rs771932172
|
0.00004
|
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys)
|
rs754486194
|
0.00004
|
NM_001009944.3(PKD1):c.7194C>T (p.Ser2398=)
|
rs746144560
|
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.747C>T (p.Ser249=)
|
rs568816990
|
0.00004
|
NM_001009944.3(PKD1):c.7487C>T (p.Thr2496Met)
|
rs3952944
|
0.00004
|
NM_001009944.3(PKD1):c.7615C>G (p.Leu2539Val)
|
rs756322717
|
0.00004
|
NM_001009944.3(PKD1):c.7767C>T (p.His2589=)
|
rs555499745
|
0.00004
|
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg)
|
rs202086892
|
0.00004
|
NM_001009944.3(PKD1):c.8708C>T (p.Ala2903Val)
|
rs777129763
|
0.00004
|
NM_001009944.3(PKD1):c.883G>A (p.Ala295Thr)
|
rs1436960334
|
0.00004
|
NM_001009944.3(PKD1):c.9168C>T (p.Phe3056=)
|
rs199787425
|
0.00004
|
NM_001009944.3(PKD1):c.9228C>T (p.Ile3076=)
|
rs532264532
|
0.00004
|
NM_001009944.3(PKD1):c.9398-8C>T
|
rs781378410
|
0.00004
|
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=)
|
rs535771951
|
0.00004
|
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr)
|
rs533152302
|
0.00004
|
NM_001009944.3(PKD1):c.965C>T (p.Ser322Leu)
|
rs557788793
|
0.00004
|
NM_001009944.3(PKD1):c.9712+10C>T
|
rs540462864
|
0.00004
|
NM_001009944.3(PKD1):c.9923+9C>T
|
rs560457620
|
0.00004
|
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile)
|
rs754956606
|
0.00003
|
NM_001009944.3(PKD1):c.10081G>A (p.Gly3361Arg)
|
rs556305710
|
0.00003
|
NM_001009944.3(PKD1):c.10143C>T (p.Leu3381=)
|
rs139921287
|
0.00003
|
NM_001009944.3(PKD1):c.10239C>T (p.Ser3413=)
|
rs150310430
|
0.00003
|
NM_001009944.3(PKD1):c.10341C>T (p.Gly3447=)
|
rs371003475
|
0.00003
|
NM_001009944.3(PKD1):c.10435G>A (p.Glu3479Lys)
|
rs779460999
|
0.00003
|
NM_001009944.3(PKD1):c.11157-9C>G
|
rs1191413154
|
0.00003
|
NM_001009944.3(PKD1):c.11344G>A (p.Asp3782Asn)
|
rs758307192
|
0.00003
|
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile)
|
rs200120839
|
0.00003
|
NM_001009944.3(PKD1):c.11689C>T (p.Leu3897Phe)
|
rs745713081
|
0.00003
|
NM_001009944.3(PKD1):c.11713-27C>T
|
rs766687827
|
0.00003
|
NM_001009944.3(PKD1):c.11813G>A (p.Arg3938Gln)
|
rs944432348
|
0.00003
|
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)
|
rs760873748
|
0.00003
|
NM_001009944.3(PKD1):c.12024C>T (p.Phe4008=)
|
rs781420939
|
0.00003
|
NM_001009944.3(PKD1):c.12039C>T (p.Ser4013=)
|
rs200796474
|
0.00003
|
NM_001009944.3(PKD1):c.1212G>A (p.Pro404=)
|
rs578104257
|
0.00003
|
NM_001009944.3(PKD1):c.1229C>T (p.Thr410Met)
|
rs370769615
|
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.12491G>A (p.Arg4164His)
|
rs199878927
|
0.00003
|
NM_001009944.3(PKD1):c.12811C>T (p.Pro4271Ser)
|
rs1362627073
|
0.00003
|
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala)
|
rs1341672915
|
0.00003
|
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)
|
rs536050342
|
0.00003
|
NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln)
|
rs781282665
|
0.00003
|
NM_001009944.3(PKD1):c.1328C>T (p.Ala443Val)
|
rs535399366
|
0.00003
|
NM_001009944.3(PKD1):c.1354G>A (p.Val452Met)
|
rs752848157
|
0.00003
|
NM_001009944.3(PKD1):c.1410C>T (p.Phe470=)
|
rs754147819
|
0.00003
|
NM_001009944.3(PKD1):c.1572G>A (p.Ala524=)
|
rs780357671
|
0.00003
|
NM_001009944.3(PKD1):c.1590C>T (p.Cys530=)
|
rs762409210
|
0.00003
|
NM_001009944.3(PKD1):c.1624G>A (p.Glu542Lys)
|
rs570811509
|
0.00003
|
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser)
|
rs1320256969
|
0.00003
|
NM_001009944.3(PKD1):c.1711G>A (p.Glu571Lys)
|
rs774162357
|
0.00003
|
NM_001009944.3(PKD1):c.1723-45G>T
|
rs773310661
|
0.00003
|
NM_001009944.3(PKD1):c.177C>G (p.Leu59=)
|
rs926443996
|
0.00003
|
NM_001009944.3(PKD1):c.2222C>T (p.Pro741Leu)
|
rs779605081
|
0.00003
|
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu)
|
rs761540024
|
0.00003
|
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)
|
rs932577597
|
0.00003
|
NM_001009944.3(PKD1):c.2396G>A (p.Arg799Gln)
|
rs766489466
|
0.00003
|
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp)
|
rs773426104
|
0.00003
|
NM_001009944.3(PKD1):c.2495G>A (p.Arg832His)
|
rs565256491
|
0.00003
|
NM_001009944.3(PKD1):c.263C>T (p.Ala88Val)
|
rs958271752
|
0.00003
|
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)
|
rs773329559
|
0.00003
|
NM_001009944.3(PKD1):c.2780C>T (p.Thr927Met)
|
rs139963923
|
0.00003
|
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys)
|
rs1085307552
|
0.00003
|
NM_001009944.3(PKD1):c.2986-14G>A
|
rs376382731
|
0.00003
|
NM_001009944.3(PKD1):c.3013G>A (p.Val1005Ile)
|
rs370648270
|
0.00003
|
NM_001009944.3(PKD1):c.3019G>A (p.Val1007Met)
|
rs376176735
|
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.3269A>G (p.Asn1090Ser)
|
rs750288921
|
0.00003
|
NM_001009944.3(PKD1):c.3295+12G>C
|
rs1397385522
|
0.00003
|
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys)
|
rs770755888
|
0.00003
|
NM_001009944.3(PKD1):c.3364G>A (p.Val1122Met)
|
rs757714318
|
0.00003
|
NM_001009944.3(PKD1):c.3384C>T (p.Ser1128=)
|
rs530066894
|
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.3612G>A (p.Ala1204=)
|
rs775947695
|
0.00003
|
NM_001009944.3(PKD1):c.3620G>A (p.Arg1207His)
|
rs771645362
|
0.00003
|
NM_001009944.3(PKD1):c.3695G>C (p.Ser1232Thr)
|
rs764365192
|
0.00003
|
NM_001009944.3(PKD1):c.3768G>A (p.Pro1256=)
|
rs770836714
|
0.00003
|
NM_001009944.3(PKD1):c.3824G>T (p.Gly1275Val)
|
rs577536178
|
0.00003
|
NM_001009944.3(PKD1):c.3827C>T (p.Ala1276Val)
|
rs776429943
|
0.00003
|
NM_001009944.3(PKD1):c.3934C>T (p.Arg1312Trp)
|
rs755661885
|
0.00003
|
NM_001009944.3(PKD1):c.3947A>T (p.Tyr1316Phe)
|
rs144512402
|
0.00003
|
NM_001009944.3(PKD1):c.3948C>T (p.Tyr1316=)
|
rs371589720
|
0.00003
|
NM_001009944.3(PKD1):c.3964G>T (p.Ala1322Ser)
|
rs1461191453
|
0.00003
|
NM_001009944.3(PKD1):c.401C>T (p.Ala134Val)
|
rs1296786347
|
0.00003
|
NM_001009944.3(PKD1):c.4049C>T (p.Thr1350Met)
|
rs777460980
|
0.00003
|
NM_001009944.3(PKD1):c.4091G>A (p.Arg1364His)
|
rs529410704
|
0.00003
|
NM_001009944.3(PKD1):c.4122C>G (p.Ile1374Met)
|
rs757456211
|
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.4656C>T (p.Val1552=)
|
rs961711184
|
0.00003
|
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met)
|
rs368161263
|
0.00003
|
NM_001009944.3(PKD1):c.4722C>T (p.Ala1574=)
|
rs375044150
|
0.00003
|
NM_001009944.3(PKD1):c.4876G>A (p.Val1626Ile)
|
rs764356283
|
0.00003
|
NM_001009944.3(PKD1):c.4918G>A (p.Gly1640Ser)
|
rs781184044
|
0.00003
|
NM_001009944.3(PKD1):c.4941C>T (p.Asn1647=)
|
rs572889542
|
0.00003
|
NM_001009944.3(PKD1):c.5003C>T (p.Ala1668Val)
|
rs932890141
|
0.00003
|
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser)
|
rs552542784
|
0.00003
|
NM_001009944.3(PKD1):c.5115C>T (p.Ser1705=)
|
rs377168399
|
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.5469G>A (p.Val1823=)
|
rs756513436
|
0.00003
|
NM_001009944.3(PKD1):c.5570C>T (p.Pro1857Leu)
|
rs370941778
|
0.00003
|
NM_001009944.3(PKD1):c.5645C>T (p.Thr1882Met)
|
rs772716160
|
0.00003
|
NM_001009944.3(PKD1):c.5699C>T (p.Ala1900Val)
|
rs140902597
|
0.00003
|
NM_001009944.3(PKD1):c.573C>T (p.Thr191=)
|
rs1422421906
|
0.00003
|
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
|
rs776028509
|
0.00003
|
NM_001009944.3(PKD1):c.5777C>T (p.Ala1926Val)
|
rs754890213
|
0.00003
|
NM_001009944.3(PKD1):c.5911G>A (p.Val1971Met)
|
rs140434415
|
0.00003
|
NM_001009944.3(PKD1):c.5943G>T (p.Glu1981Asp)
|
rs567995837
|
0.00003
|
NM_001009944.3(PKD1):c.5994C>T (p.Arg1998=)
|
rs766375023
|
0.00003
|
NM_001009944.3(PKD1):c.6001C>T (p.Arg2001Trp)
|
rs773069152
|
0.00003
|
NM_001009944.3(PKD1):c.6090C>T (p.Pro2030=)
|
rs369113909
|
0.00003
|
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr)
|
rs771364071
|
0.00003
|
NM_001009944.3(PKD1):c.6230C>T (p.Ala2077Val)
|
rs142493877
|
0.00003
|
NM_001009944.3(PKD1):c.6231G>A (p.Ala2077=)
|
rs548665036
|
0.00003
|
NM_001009944.3(PKD1):c.6285C>A (p.Asp2095Glu)
|
rs765861287
|
0.00003
|
NM_001009944.3(PKD1):c.6288T>C (p.Phe2096=)
|
rs989765080
|
0.00003
|
NM_001009944.3(PKD1):c.6301C>T (p.Pro2101Ser)
|
rs145266746
|
0.00003
|
NM_001009944.3(PKD1):c.6440G>A (p.Arg2147Gln)
|
rs771035065
|
0.00003
|
NM_001009944.3(PKD1):c.6605C>T (p.Ala2202Val)
|
rs764264106
|
0.00003
|
NM_001009944.3(PKD1):c.6624C>T (p.Gly2208=)
|
rs367984427
|
0.00003
|
NM_001009944.3(PKD1):c.664G>A (p.Ala222Thr)
|
rs1391867937
|
0.00003
|
NM_001009944.3(PKD1):c.6838G>A (p.Glu2280Lys)
|
rs375782776
|
0.00003
|
NM_001009944.3(PKD1):c.6915+9G>A
|
rs369836549
|
0.00003
|
NM_001009944.3(PKD1):c.7065+9C>T
|
rs765688834
|
0.00003
|
NM_001009944.3(PKD1):c.7342C>T (p.Leu2448Phe)
|
rs747780246
|
0.00003
|
NM_001009944.3(PKD1):c.7406G>A (p.Arg2469His)
|
rs770918119
|
0.00003
|
NM_001009944.3(PKD1):c.7456G>A (p.Ala2486Thr)
|
rs567983155
|
0.00003
|
NM_001009944.3(PKD1):c.7720C>T (p.Leu2574Phe)
|
rs762784886
|
0.00003
|
NM_001009944.3(PKD1):c.7741G>A (p.Ala2581Thr)
|
rs773620699
|
0.00003
|
NM_001009944.3(PKD1):c.7818G>C (p.Gln2606His)
|
rs753798096
|
0.00003
|
NM_001009944.3(PKD1):c.7851C>T (p.Thr2617=)
|
rs754620450
|
0.00003
|
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met)
|
rs748496650
|
0.00003
|
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val)
|
rs761726794
|
0.00003
|
NM_001009944.3(PKD1):c.8016+11C>G
|
rs757750385
|
0.00003
|
NM_001009944.3(PKD1):c.8161+3G>A
|
rs753886023
|
0.00003
|
NM_001009944.3(PKD1):c.8236C>T (p.Arg2746Trp)
|
rs201050321
|
0.00003
|
NM_001009944.3(PKD1):c.8270C>T (p.Ser2757Phe)
|
rs746182541
|
0.00003
|
NM_001009944.3(PKD1):c.8391C>T (p.Gly2797=)
|
rs753895513
|
0.00003
|
NM_001009944.3(PKD1):c.8394C>T (p.Gly2798=)
|
rs760811822
|
0.00003
|
NM_001009944.3(PKD1):c.8511C>T (p.Gly2837=)
|
rs750550230
|
0.00003
|
NM_001009944.3(PKD1):c.8814T>C (p.Pro2938=)
|
rs3204450
|
0.00003
|
NM_001009944.3(PKD1):c.8843C>T (p.Ser2948Leu)
|
rs146250848
|
0.00003
|
NM_001009944.3(PKD1):c.8851C>T (p.Arg2951Trp)
|
rs369731124
|
0.00003
|
NM_001009944.3(PKD1):c.9077G>A (p.Arg3026Gln)
|
rs576970336
|
0.00003
|
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile)
|
rs966307189
|
0.00003
|
NM_001009944.3(PKD1):c.9178A>G (p.Ser3060Gly)
|
rs558291364
|
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.9360C>T (p.Tyr3120=)
|
rs983374570
|
0.00003
|
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
|
rs776866974
|
0.00003
|
NM_001009944.3(PKD1):c.9510C>T (p.Ile3170=)
|
rs760864722
|
0.00003
|
NM_001009944.3(PKD1):c.9598G>A (p.Val3200Ile)
|
rs1422698524
|
0.00003
|
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val)
|
rs779137772
|
0.00003
|
NM_001009944.3(PKD1):c.9708C>T (p.Ala3236=)
|
rs755291122
|
0.00003
|
NM_001009944.3(PKD1):c.9709G>A (p.Ala3237Thr)
|
rs754218771
|
0.00003
|
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val)
|
rs780284563
|
0.00003
|
NM_001009944.3(PKD1):c.9736C>T (p.Arg3246Trp)
|
rs746231158
|
0.00003
|
NM_001009944.3(PKD1):c.9764G>A (p.Arg3255His)
|
rs1052458360
|
0.00003
|
NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp)
|
rs980803513
|
0.00003
|
NM_001009944.3(PKD1):c.9814C>T (p.Arg3272Cys)
|
rs143453080
|
0.00003
|
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile)
|
rs201780393
|
0.00003
|
NM_001009944.3(PKD1):c.996C>T (p.His332=)
|
rs773259284
|
0.00003
|
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr)
|
rs1422578175
|
0.00003
|
NM_001009944.3(PKD1):c.10303C>T (p.Arg3435Trp)
|
rs562831339
|
0.00002
|
NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu)
|
rs779271659
|
0.00002
|
NM_001009944.3(PKD1):c.10890G>A (p.Leu3630=)
|
rs776822071
|
0.00002
|
NM_001009944.3(PKD1):c.10910C>T (p.Thr3637Met)
|
rs369809152
|
0.00002
|
NM_001009944.3(PKD1):c.1104G>C (p.Gln368His)
|
rs1367464817
|
0.00002
|
NM_001009944.3(PKD1):c.11156+4C>T
|
rs1417376349
|
0.00002
|
NM_001009944.3(PKD1):c.11198C>T (p.Pro3733Leu)
|
rs2091644809
|
0.00002
|
NM_001009944.3(PKD1):c.1133A>G (p.Gln378Arg)
|
rs2092665938
|
0.00002
|
NM_001009944.3(PKD1):c.11677C>T (p.Leu3893Phe)
|
rs973293202
|
0.00002
|
NM_001009944.3(PKD1):c.11713-3C>T
|
rs754015180
|
0.00002
|
NM_001009944.3(PKD1):c.11864A>T (p.Gln3955Leu)
|
rs1249376649
|
0.00002
|
NM_001009944.3(PKD1):c.1193C>T (p.Pro398Leu)
|
rs1183794501
|
0.00002
|
NM_001009944.3(PKD1):c.1194G>A (p.Pro398=)
|
rs1482420402
|
0.00002
|
NM_001009944.3(PKD1):c.11972C>T (p.Ala3991Val)
|
rs761577523
|
0.00002
|
NM_001009944.3(PKD1):c.11989C>T (p.Leu3997=)
|
rs771227962
|
0.00002
|
NM_001009944.3(PKD1):c.12003+37dup
|
rs1446226973
|
0.00002
|
NM_001009944.3(PKD1):c.12139-7C>T
|
rs371275742
|
0.00002
|
NM_001009944.3(PKD1):c.12226C>G (p.Pro4076Ala)
|
rs375653663
|
0.00002
|
NM_001009944.3(PKD1):c.12415C>T (p.Leu4139Phe)
|
rs373984948
|
0.00002
|
NM_001009944.3(PKD1):c.12515C>A (p.Ser4172Tyr)
|
rs781744375
|
0.00002
|
NM_001009944.3(PKD1):c.12642C>T (p.Arg4214=)
|
rs781028460
|
0.00002
|
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala)
|
rs1114167365
|
0.00002
|
NM_001009944.3(PKD1):c.12800G>A (p.Arg4267Gln)
|
rs771965935
|
0.00002
|
NM_001009944.3(PKD1):c.12871C>A (p.Pro4291Thr)
|
rs1041724463
|
0.00002
|
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys)
|
rs765408067
|
0.00002
|
NM_001009944.3(PKD1):c.1674G>A (p.Thr558=)
|
rs757658330
|
0.00002
|
NM_001009944.3(PKD1):c.169C>T (p.Arg57Trp)
|
rs1315029199
|
0.00002
|
NM_001009944.3(PKD1):c.1912C>T (p.Pro638Ser)
|
rs1395843045
|
0.00002
|
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)
|
rs1300272809
|
0.00002
|
NM_001009944.3(PKD1):c.1999A>G (p.Asn667Asp)
|
rs1351098350
|
0.00002
|
NM_001009944.3(PKD1):c.2068G>A (p.Val690Ile)
|
rs948344824
|
0.00002
|
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val)
|
rs775988021
|
0.00002
|
NM_001009944.3(PKD1):c.2602G>A (p.Ala868Thr)
|
rs769711984
|
0.00002
|
NM_001009944.3(PKD1):c.2964C>T (p.Ser988=)
|
rs760951921
|
0.00002
|
NM_001009944.3(PKD1):c.3107C>T (p.Thr1036Met)
|
rs532455378
|
0.00002
|
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=)
|
rs754575596
|
0.00002
|
NM_001009944.3(PKD1):c.3518G>A (p.Ser1173Asn)
|
rs755553383
|
0.00002
|
NM_001009944.3(PKD1):c.3568C>T (p.Arg1190Cys)
|
rs929457769
|
0.00002
|
NM_001009944.3(PKD1):c.360-18C>T
|
rs771272026
|
0.00002
|
NM_001009944.3(PKD1):c.360-5T>C
|
rs4018168
|
0.00002
|
NM_001009944.3(PKD1):c.3638G>A (p.Arg1213His)
|
rs756174712
|
0.00002
|
NM_001009944.3(PKD1):c.3725C>T (p.Thr1242Met)
|
rs1033550407
|
0.00002
|
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn)
|
rs553360241
|
0.00002
|
NM_001009944.3(PKD1):c.4056C>T (p.Ser1352=)
|
rs756229724
|
0.00002
|
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=)
|
rs776410570
|
0.00002
|
NM_001009944.3(PKD1):c.4294A>G (p.Thr1432Ala)
|
rs764794277
|
0.00002
|
NM_001009944.3(PKD1):c.4339G>A (p.Ala1447Thr)
|
rs535676910
|
0.00002
|
NM_001009944.3(PKD1):c.4364A>G (p.Asn1455Ser)
|
rs745758758
|
0.00002
|
NM_001009944.3(PKD1):c.4472G>T (p.Gly1491Val)
|
rs376028977
|
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.503G>C (p.Gly168Ala)
|
rs892397726
|
0.00002
|
NM_001009944.3(PKD1):c.5068G>A (p.Ala1690Thr)
|
rs780133373
|
0.00002
|
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln)
|
rs569887918
|
0.00002
|
NM_001009944.3(PKD1):c.5210C>T (p.Thr1737Ile)
|
rs773343118
|
0.00002
|
NM_001009944.3(PKD1):c.5272C>T (p.Leu1758=)
|
rs746568609
|
0.00002
|
NM_001009944.3(PKD1):c.530-6T>C
|
rs1447566213
|
0.00002
|
NM_001009944.3(PKD1):c.5362G>C (p.Gly1788Arg)
|
rs1361499651
|
0.00002
|
NM_001009944.3(PKD1):c.5523G>T (p.Val1841=)
|
rs766252073
|
0.00002
|
NM_001009944.3(PKD1):c.5700G>A (p.Ala1900=)
|
rs1201207003
|
0.00002
|
NM_001009944.3(PKD1):c.5757C>T (p.Phe1919=)
|
rs373335256
|
0.00002
|
NM_001009944.3(PKD1):c.5892C>T (p.Arg1964=)
|
rs199688830
|
0.00002
|
NM_001009944.3(PKD1):c.5960G>A (p.Gly1987Asp)
|
rs527929848
|
0.00002
|
NM_001009944.3(PKD1):c.6012C>T (p.Tyr2004=)
|
rs749606098
|
0.00002
|
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu)
|
rs781681199
|
0.00002
|
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys)
|
rs544427622
|
0.00002
|
NM_001009944.3(PKD1):c.6515A>G (p.His2172Arg)
|
rs774614948
|
0.00002
|
NM_001009944.3(PKD1):c.6529G>A (p.Asp2177Asn)
|
rs747794812
|
0.00002
|
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)
|
rs375006983
|
0.00002
|
NM_001009944.3(PKD1):c.6622G>A (p.Gly2208Ser)
|
rs779825346
|
0.00002
|
NM_001009944.3(PKD1):c.6823G>T (p.Val2275Leu)
|
rs755647251
|
0.00002
|
NM_001009944.3(PKD1):c.710C>T (p.Pro237Leu)
|
rs1394714414
|
0.00002
|
NM_001009944.3(PKD1):c.7222C>T (p.Arg2408Cys)
|
rs538769374
|
0.00002
|
NM_001009944.3(PKD1):c.7479C>G (p.Phe2493Leu)
|
rs752349510
|
0.00002
|
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly)
|
rs3874655
|
0.00002
|
NM_001009944.3(PKD1):c.7612G>A (p.Val2538Met)
|
rs149281650
|
0.00002
|
NM_001009944.3(PKD1):c.7703+12C>T
|
rs542748732
|
0.00002
|
NM_001009944.3(PKD1):c.773C>T (p.Thr258Ile)
|
rs754889452
|
0.00002
|
NM_001009944.3(PKD1):c.7777G>A (p.Ala2593Thr)
|
rs760879762
|
0.00002
|
NM_001009944.3(PKD1):c.788C>A (p.Thr263Asn)
|
rs900664088
|
0.00002
|
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile)
|
rs566531762
|
0.00002
|
NM_001009944.3(PKD1):c.8061G>A (p.Thr2687=)
|
rs745338344
|
0.00002
|
NM_001009944.3(PKD1):c.8098G>A (p.Ala2700Thr)
|
rs759568760
|
0.00002
|
NM_001009944.3(PKD1):c.8161+4C>T
|
rs766547394
|
0.00002
|
NM_001009944.3(PKD1):c.8330C>T (p.Ala2777Val)
|
rs755760795
|
0.00002
|
NM_001009944.3(PKD1):c.8366A>G (p.Asp2789Gly)
|
rs772565411
|
0.00002
|
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu)
|
rs769345341
|
0.00002
|
NM_001009944.3(PKD1):c.857C>G (p.Ser286Cys)
|
rs1265795114
|
0.00002
|
NM_001009944.3(PKD1):c.8619C>T (p.Thr2873=)
|
rs143419418
|
0.00002
|
NM_001009944.3(PKD1):c.8678C>T (p.Ser2893Phe)
|
rs759290287
|
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.9058G>A (p.Glu3020Lys)
|
rs746423125
|
0.00002
|
NM_001009944.3(PKD1):c.9123C>T (p.Ala3041=)
|
rs771451033
|
0.00002
|
NM_001009944.3(PKD1):c.9233T>C (p.Met3078Thr)
|
rs879544330
|
0.00002
|
NM_001009944.3(PKD1):c.9334T>C (p.Cys3112Arg)
|
rs1405051804
|
0.00002
|
NM_001009944.3(PKD1):c.936C>T (p.Ala312=)
|
rs200848298
|
0.00002
|
NM_001009944.3(PKD1):c.9443G>A (p.Arg3148Gln)
|
rs762936616
|
0.00002
|
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His)
|
rs1063405
|
0.00002
|
NM_001009944.3(PKD1):c.9713-17C>G
|
rs766238514
|
0.00002
|
NM_001009944.3(PKD1):c.9737G>A (p.Arg3246Gln)
|
rs781673852
|
0.00002
|
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met)
|
rs1459100196
|
0.00002
|
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys)
|
rs1287231217
|
0.00001
|
NM_001009944.3(PKD1):c.10027C>T (p.Leu3343Phe)
|
rs1158465434
|
0.00001
|
NM_001009944.3(PKD1):c.10033C>T (p.Arg3345Trp)
|
rs986431548
|
0.00001
|
NM_001009944.3(PKD1):c.10050+10G>C
|
rs746704728
|
0.00001
|
NM_001009944.3(PKD1):c.10064C>T (p.Pro3355Leu)
|
rs781263445
|
0.00001
|
NM_001009944.3(PKD1):c.10118C>T (p.Ser3373Leu)
|
rs373222937
|
0.00001
|
NM_001009944.3(PKD1):c.10122C>T (p.Ser3374=)
|
rs755538285
|
0.00001
|
NM_001009944.3(PKD1):c.10136C>G (p.Ser3379Cys)
|
rs763653467
|
0.00001
|
NM_001009944.3(PKD1):c.10151C>T (p.Ser3384Leu)
|
rs1383556063
|
0.00001
|
NM_001009944.3(PKD1):c.10163C>G (p.Ala3388Gly)
|
rs780451430
|
0.00001
|
NM_001009944.3(PKD1):c.10194T>C (p.Ser3398=)
|
rs773251931
|
0.00001
|
NM_001009944.3(PKD1):c.10232G>C (p.Trp3411Ser)
|
rs549326097
|
0.00001
|
NM_001009944.3(PKD1):c.103C>T (p.Pro35Ser)
|
rs1016742393
|
0.00001
|
NM_001009944.3(PKD1):c.10453G>T (p.Ala3485Ser)
|
rs2091883615
|
0.00001
|
NM_001009944.3(PKD1):c.10481C>T (p.Thr3494Met)
|
rs752503970
|
0.00001
|
NM_001009944.3(PKD1):c.10536G>A (p.Ala3512=)
|
rs1265357275
|
0.00001
|
NM_001009944.3(PKD1):c.10687C>T (p.Leu3563=)
|
rs770693846
|
0.00001
|
NM_001009944.3(PKD1):c.10690C>T (p.Leu3564Phe)
|
rs138571055
|
0.00001
|
NM_001009944.3(PKD1):c.10726G>A (p.Val3576Met)
|
rs1483830437
|
0.00001
|
NM_001009944.3(PKD1):c.1075C>G (p.Leu359Val)
|
rs1057524759
|
0.00001
|
NM_001009944.3(PKD1):c.10773C>T (p.Ser3591=)
|
rs1168845943
|
0.00001
|
NM_001009944.3(PKD1):c.10822-4C>G
|
rs1213585339
|
0.00001
|
NM_001009944.3(PKD1):c.10826T>C (p.Leu3609Ser)
|
rs776847358
|
0.00001
|
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met)
|
rs1428207672
|
0.00001
|
NM_001009944.3(PKD1):c.10903G>C (p.Ala3635Pro)
|
rs1166642512
|
0.00001
|
NM_001009944.3(PKD1):c.10904C>A (p.Ala3635Asp)
|
rs748561600
|
0.00001
|
NM_001009944.3(PKD1):c.10940G>A (p.Arg3647Gln)
|
rs1415072762
|
0.00001
|
NM_001009944.3(PKD1):c.10978G>A (p.Glu3660Lys)
|
rs2091704414
|
0.00001
|
NM_001009944.3(PKD1):c.11153C>T (p.Thr3718Met)
|
rs769497591
|
0.00001
|
NM_001009944.3(PKD1):c.11156+5G>A
|
rs781007377
|
0.00001
|
NM_001009944.3(PKD1):c.11254G>A (p.Val3752Met)
|
rs757901097
|
0.00001
|
NM_001009944.3(PKD1):c.11292C>A (p.Gly3764=)
|
rs553713361
|
0.00001
|
NM_001009944.3(PKD1):c.11293C>T (p.Pro3765Ser)
|
rs751392918
|
0.00001
|
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs)
|
rs2091618729
|
0.00001
|
NM_001009944.3(PKD1):c.11396C>T (p.Ala3799Val)
|
rs371394349
|
0.00001
|
NM_001009944.3(PKD1):c.11397G>A (p.Ala3799=)
|
rs753956366
|
0.00001
|
NM_001009944.3(PKD1):c.11399C>T (p.Pro3800Leu)
|
rs2091613857
|
0.00001
|
NM_001009944.3(PKD1):c.11541C>T (p.Ser3847=)
|
rs775782348
|
0.00001
|
NM_001009944.3(PKD1):c.11623G>A (p.Ala3875Thr)
|
rs1381046981
|
0.00001
|
NM_001009944.3(PKD1):c.11713-12C>T
|
rs745528408
|
0.00001
|
NM_001009944.3(PKD1):c.11740T>C (p.Phe3914Leu)
|
rs1469458876
|
0.00001
|
NM_001009944.3(PKD1):c.11750C>T (p.Ala3917Val)
|
rs780212070
|
0.00001
|
NM_001009944.3(PKD1):c.11801G>A (p.Gly3934Glu)
|
rs771855838
|
0.00001
|
NM_001009944.3(PKD1):c.11903G>A (p.Arg3968His)
|
rs1297869565
|
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.12013C>T (p.Gln4005Ter)
|
rs1567148587
|
0.00001
|
NM_001009944.3(PKD1):c.12076C>G (p.Leu4026Val)
|
rs938492146
|
0.00001
|
NM_001009944.3(PKD1):c.1207C>T (p.His403Tyr)
|
rs999510631
|
0.00001
|
NM_001009944.3(PKD1):c.12161C>T (p.Ser4054Phe)
|
rs767346332
|
0.00001
|
NM_001009944.3(PKD1):c.12170G>A (p.Ser4057Asn)
|
rs763170710
|
0.00001
|
NM_001009944.3(PKD1):c.12184C>G (p.Leu4062Val)
|
rs1041735800
|
0.00001
|
NM_001009944.3(PKD1):c.1221C>T (p.Pro407=)
|
rs768893401
|
0.00001
|
NM_001009944.3(PKD1):c.12236C>T (p.Ser4079Phe)
|
rs1224705217
|
0.00001
|
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser)
|
rs1363663761
|
0.00001
|
NM_001009944.3(PKD1):c.12251C>T (p.Pro4084Leu)
|
rs752697395
|
0.00001
|
NM_001009944.3(PKD1):c.12263T>G (p.Val4088Gly)
|
rs1201701234
|
0.00001
|
NM_001009944.3(PKD1):c.12325C>T (p.Arg4109Cys)
|
rs750666594
|
0.00001
|
NM_001009944.3(PKD1):c.12336C>T (p.Ala4112=)
|
rs774821005
|
0.00001
|
NM_001009944.3(PKD1):c.12387G>A (p.Met4129Ile)
|
rs750629950
|
0.00001
|
NM_001009944.3(PKD1):c.12413G>A (p.Arg4138His)
|
rs1321320963
|
0.00001
|
NM_001009944.3(PKD1):c.12441G>A (p.Lys4147=)
|
rs201747031
|
0.00001
|
NM_001009944.3(PKD1):c.12461G>A (p.Arg4154His)
|
rs2091413681
|
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.12573C>T (p.Ser4191=)
|
rs1278720724
|
0.00001
|
NM_001009944.3(PKD1):c.12632A>C (p.Glu4211Ala)
|
rs2091400377
|
0.00001
|
NM_001009944.3(PKD1):c.12640C>T (p.Arg4214Cys)
|
rs569380424
|
0.00001
|
NM_001009944.3(PKD1):c.12660G>A (p.Glu4220=)
|
rs759787794
|
0.00001
|
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro)
|
rs1230641065
|
0.00001
|
NM_001009944.3(PKD1):c.12699A>G (p.Thr4233=)
|
rs753414148
|
0.00001
|
NM_001009944.3(PKD1):c.12758G>A (p.Arg4253Gln)
|
rs771695253
|
0.00001
|
NM_001009944.3(PKD1):c.12778C>T (p.Arg4260Cys)
|
rs755897784
|
0.00001
|
NM_001009944.3(PKD1):c.12825C>T (p.Ala4275=)
|
rs1014237110
|
0.00001
|
NM_001009944.3(PKD1):c.12836G>A (p.Arg4279Gln)
|
rs557710665
|
0.00001
|
NM_001009944.3(PKD1):c.1283C>T (p.Ala428Val)
|
rs764194653
|
0.00001
|
NM_001009944.3(PKD1):c.1304A>G (p.Gln435Arg)
|
rs1426435123
|
0.00001
|
NM_001009944.3(PKD1):c.1426G>C (p.Val476Leu)
|
rs773817287
|
0.00001
|
NM_001009944.3(PKD1):c.1453G>A (p.Glu485Lys)
|
rs1172709757
|
0.00001
|
NM_001009944.3(PKD1):c.147C>T (p.Val49=)
|
rs1009646101
|
0.00001
|
NM_001009944.3(PKD1):c.1488G>T (p.Leu496=)
|
rs1184979922
|
0.00001
|
NM_001009944.3(PKD1):c.1571C>T (p.Ala524Val)
|
rs1474279745
|
0.00001
|
NM_001009944.3(PKD1):c.1575G>A (p.Pro525=)
|
rs893251835
|
0.00001
|
NM_001009944.3(PKD1):c.1598A>G (p.Gln533Arg)
|
rs2855342
|
0.00001
|
NM_001009944.3(PKD1):c.1643C>T (p.Ala548Val)
|
rs768613812
|
0.00001
|
NM_001009944.3(PKD1):c.167T>C (p.Leu56Pro)
|
rs2092940195
|
0.00001
|
NM_001009944.3(PKD1):c.1723-9G>T
|
rs950014250
|
0.00001
|
NM_001009944.3(PKD1):c.1744C>T (p.Arg582Cys)
|
rs1477551590
|
0.00001
|
NM_001009944.3(PKD1):c.1754G>A (p.Arg585His)
|
rs753885924
|
0.00001
|
NM_001009944.3(PKD1):c.1764C>T (p.Phe588=)
|
rs2544866297
|
0.00001
|
NM_001009944.3(PKD1):c.1806C>T (p.Pro602=)
|
rs1167205694
|
0.00001
|
NM_001009944.3(PKD1):c.1844C>T (p.Thr615Ile)
|
rs749734579
|
0.00001
|
NM_001009944.3(PKD1):c.1850-8C>T
|
rs1348298337
|
0.00001
|
NM_001009944.3(PKD1):c.1933C>T (p.Arg645Cys)
|
rs749034769
|
0.00001
|
NM_001009944.3(PKD1):c.19G>A (p.Ala7Thr)
|
rs1401224165
|
0.00001
|
NM_001009944.3(PKD1):c.2036C>A (p.Pro679His)
|
rs201972747
|
0.00001
|
NM_001009944.3(PKD1):c.2102C>T (p.Thr701Ile)
|
rs1456789343
|
0.00001
|
NM_001009944.3(PKD1):c.2107C>T (p.His703Tyr)
|
rs541068554
|
0.00001
|
NM_001009944.3(PKD1):c.2172C>T (p.Gly724=)
|
rs1299321668
|
0.00001
|
NM_001009944.3(PKD1):c.2173G>A (p.Ala725Thr)
|
rs773053314
|
0.00001
|
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser)
|
rs1311664031
|
0.00001
|
NM_001009944.3(PKD1):c.220G>A (p.Val74Ile)
|
rs1048339818
|
0.00001
|
NM_001009944.3(PKD1):c.2233G>T (p.Ala745Ser)
|
rs995499499
|
0.00001
|
NM_001009944.3(PKD1):c.2239G>A (p.Ala747Thr)
|
rs796086075
|
0.00001
|
NM_001009944.3(PKD1):c.2279G>T (p.Gly760Val)
|
rs759750588
|
0.00001
|
NM_001009944.3(PKD1):c.2282C>T (p.Thr761Ile)
|
rs1265315435
|
0.00001
|
NM_001009944.3(PKD1):c.2308C>T (p.Arg770Trp)
|
rs771288493
|
0.00001
|
NM_001009944.3(PKD1):c.2330A>T (p.Gln777Leu)
|
rs1448608581
|
0.00001
|
NM_001009944.3(PKD1):c.2341C>T (p.Leu781=)
|
rs991250080
|
0.00001
|
NM_001009944.3(PKD1):c.2350T>C (p.Leu784=)
|
rs548912379
|
0.00001
|
NM_001009944.3(PKD1):c.2360A>G (p.Asn787Ser)
|
rs928084406
|
0.00001
|
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile)
|
rs928084406
|
0.00001
|
NM_001009944.3(PKD1):c.2372G>A (p.Arg791Gln)
|
rs751278485
|
0.00001
|
NM_001009944.3(PKD1):c.2377C>T (p.Pro793Ser)
|
rs762974428
|
0.00001
|
NM_001009944.3(PKD1):c.2429A>G (p.Asn810Ser)
|
rs745343302
|
0.00001
|
NM_001009944.3(PKD1):c.2460A>C (p.Pro820=)
|
rs754992351
|
0.00001
|
NM_001009944.3(PKD1):c.2470C>T (p.Leu824=)
|
rs2092597354
|
0.00001
|
NM_001009944.3(PKD1):c.2498A>G (p.Asp833Gly)
|
rs1354266181
|
0.00001
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
0.00001
|
NM_001009944.3(PKD1):c.2545G>A (p.Val849Met)
|
rs749138783
|
0.00001
|
NM_001009944.3(PKD1):c.2607C>A (p.Arg869=)
|
rs537405706
|
0.00001
|
NM_001009944.3(PKD1):c.2699C>T (p.Pro900Leu)
|
rs756619253
|
0.00001
|
NM_001009944.3(PKD1):c.272C>T (p.Ser91Leu)
|
rs1339097856
|
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.2882C>T (p.Ser961Leu)
|
rs1409614100
|
0.00001
|
NM_001009944.3(PKD1):c.2911G>A (p.Asp971Asn)
|
rs778796205
|
0.00001
|
NM_001009944.3(PKD1):c.2921C>T (p.Ser974Phe)
|
rs1223669515
|
0.00001
|
NM_001009944.3(PKD1):c.2985+14G>A
|
rs2432399
|
0.00001
|
NM_001009944.3(PKD1):c.2986-10G>A
|
rs1018699765
|
0.00001
|
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val)
|
rs1393997103
|
0.00001
|
NM_001009944.3(PKD1):c.3007A>G (p.Ser1003Gly)
|
rs1443566968
|
0.00001
|
NM_001009944.3(PKD1):c.3015C>T (p.Val1005=)
|
rs768622207
|
0.00001
|
NM_001009944.3(PKD1):c.3030C>T (p.Asn1010=)
|
rs373237487
|
0.00001
|
NM_001009944.3(PKD1):c.3037G>A (p.Val1013Met)
|
rs1301518884
|
0.00001
|
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp)
|
rs751946869
|
0.00001
|
NM_001009944.3(PKD1):c.3080T>G (p.Val1027Gly)
|
rs377725958
|
0.00001
|
NM_001009944.3(PKD1):c.3092T>C (p.Leu1031Pro)
|
rs758865792
|
0.00001
|
NM_001009944.3(PKD1):c.3119C>T (p.Thr1040Met)
|
rs770922229
|
0.00001
|
NM_001009944.3(PKD1):c.3145G>A (p.Val1049Met)
|
rs182938045
|
0.00001
|
NM_001009944.3(PKD1):c.3148G>A (p.Glu1050Lys)
|
rs572950870
|
0.00001
|
NM_001009944.3(PKD1):c.3151G>T (p.Val1051Leu)
|
rs1267565433
|
0.00001
|
NM_001009944.3(PKD1):c.3242C>T (p.Ser1081Leu)
|
rs377441860
|
0.00001
|
NM_001009944.3(PKD1):c.3286G>A (p.Ala1096Thr)
|
rs1307673492
|
0.00001
|
NM_001009944.3(PKD1):c.3355C>A (p.Pro1119Thr)
|
rs2092514047
|
0.00001
|
NM_001009944.3(PKD1):c.3390T>G (p.Ala1130=)
|
rs769998736
|
0.00001
|
NM_001009944.3(PKD1):c.340T>G (p.Leu114Val)
|
rs980956715
|
0.00001
|
NM_001009944.3(PKD1):c.3472C>G (p.Leu1158Val)
|
rs1394517570
|
0.00001
|
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly)
|
rs751293870
|
0.00001
|
NM_001009944.3(PKD1):c.3499T>C (p.Ser1167Pro)
|
rs769818833
|
0.00001
|
NM_001009944.3(PKD1):c.3564C>T (p.His1188=)
|
rs1047922967
|
0.00001
|
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val)
|
rs144338515
|
0.00001
|
NM_001009944.3(PKD1):c.3667G>T (p.Val1223Leu)
|
rs749092859
|
0.00001
|
NM_001009944.3(PKD1):c.3691G>A (p.Val1231Ile)
|
rs751642475
|
0.00001
|
NM_001009944.3(PKD1):c.3697G>A (p.Ala1233Thr)
|
rs752993263
|
0.00001
|
NM_001009944.3(PKD1):c.3732C>T (p.Thr1244=)
|
rs1304736565
|
0.00001
|
NM_001009944.3(PKD1):c.3761C>T (p.Ser1254Leu)
|
rs763539652
|
0.00001
|
NM_001009944.3(PKD1):c.3767C>T (p.Pro1256Leu)
|
rs149156000
|
0.00001
|
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu)
|
rs1567219166
|
0.00001
|
NM_001009944.3(PKD1):c.3841G>A (p.Gly1281Ser)
|
rs749482125
|
0.00001
|
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met)
|
rs541552030
|
0.00001
|
NM_001009944.3(PKD1):c.3867G>A (p.Val1289=)
|
rs764853160
|
0.00001
|
NM_001009944.3(PKD1):c.3873C>G (p.Val1291=)
|
rs753464188
|
0.00001
|
NM_001009944.3(PKD1):c.3884A>C (p.Glu1295Ala)
|
rs746215131
|
0.00001
|
NM_001009944.3(PKD1):c.3920C>T (p.Thr1307Met)
|
rs527659927
|
0.00001
|
NM_001009944.3(PKD1):c.3962C>T (p.Pro1321Leu)
|
rs779379060
|
0.00001
|
NM_001009944.3(PKD1):c.3975C>T (p.Leu1325=)
|
rs758222643
|
0.00001
|
NM_001009944.3(PKD1):c.3978C>T (p.Phe1326=)
|
rs752712528
|
0.00001
|
NM_001009944.3(PKD1):c.3992G>A (p.Gly1331Glu)
|
rs760982070
|
0.00001
|
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser)
|
rs1474271392
|
0.00001
|
NM_001009944.3(PKD1):c.4103C>T (p.Ala1368Val)
|
rs562184754
|
0.00001
|
NM_001009944.3(PKD1):c.4141G>A (p.Gly1381Ser)
|
rs1336504071
|
0.00001
|
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys)
|
rs755462601
|
0.00001
|
NM_001009944.3(PKD1):c.4191G>T (p.Glu1397Asp)
|
rs1356967038
|
0.00001
|
NM_001009944.3(PKD1):c.4276G>A (p.Ala1426Thr)
|
rs371034724
|
0.00001
|
NM_001009944.3(PKD1):c.4295C>T (p.Thr1432Met)
|
rs754666072
|
0.00001
|
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter)
|
rs1183899324
|
0.00001
|
NM_001009944.3(PKD1):c.4421A>G (p.Asn1474Ser)
|
rs750149483
|
0.00001
|
NM_001009944.3(PKD1):c.461C>T (p.Thr154Met)
|
rs1441482246
|
0.00001
|
NM_001009944.3(PKD1):c.4641C>T (p.Arg1547=)
|
rs367672280
|
0.00001
|
NM_001009944.3(PKD1):c.4661A>G (p.Asn1554Ser)
|
rs751868419
|
0.00001
|
NM_001009944.3(PKD1):c.4662T>C (p.Asn1554=)
|
rs778135756
|
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.4713G>A (p.Ser1571=)
|
rs575632499
|
0.00001
|
NM_001009944.3(PKD1):c.4723G>A (p.Gly1575Ser)
|
rs751223759
|
0.00001
|
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro)
|
rs541777274
|
0.00001
|
NM_001009944.3(PKD1):c.4764C>T (p.Cys1588=)
|
rs376144237
|
0.00001
|
NM_001009944.3(PKD1):c.4805G>A (p.Arg1602His)
|
rs770679215
|
0.00001
|
NM_001009944.3(PKD1):c.4815C>T (p.Gly1605=)
|
rs149561527
|
0.00001
|
NM_001009944.3(PKD1):c.4870A>G (p.Ile1624Val)
|
rs767401947
|
0.00001
|
NM_001009944.3(PKD1):c.4901G>T (p.Gly1634Val)
|
rs768244952
|
0.00001
|
NM_001009944.3(PKD1):c.4983C>T (p.Asn1661=)
|
rs754178241
|
0.00001
|
NM_001009944.3(PKD1):c.5008A>G (p.Arg1670Gly)
|
rs1275257576
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.5122G>A (p.Ala1708Thr)
|
rs758961825
|
0.00001
|
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn)
|
rs1199050207
|
0.00001
|
NM_001009944.3(PKD1):c.5203A>T (p.Ser1735Cys)
|
rs1064796417
|
0.00001
|
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
|
rs760993331
|
0.00001
|
NM_001009944.3(PKD1):c.5216G>C (p.Ser1739Thr)
|
rs772457591
|
0.00001
|
NM_001009944.3(PKD1):c.5259C>G (p.Ser1753=)
|
rs772246730
|
0.00001
|
NM_001009944.3(PKD1):c.5284A>G (p.Thr1762Ala)
|
rs369625462
|
0.00001
|
NM_001009944.3(PKD1):c.5297T>G (p.Phe1766Cys)
|
rs767720073
|
0.00001
|
NM_001009944.3(PKD1):c.5559C>T (p.Thr1853=)
|
rs752107118
|
0.00001
|
NM_001009944.3(PKD1):c.5587T>A (p.Ser1863Thr)
|
rs1446018518
|
0.00001
|
NM_001009944.3(PKD1):c.5588C>A (p.Ser1863Tyr)
|
rs1337271362
|
0.00001
|
NM_001009944.3(PKD1):c.5589C>T (p.Ser1863=)
|
rs775686229
|
0.00001
|
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala)
|
rs1555459201
|
0.00001
|
NM_001009944.3(PKD1):c.5979A>G (p.Thr1993=)
|
rs756636397
|
0.00001
|
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met)
|
rs1114167373
|
0.00001
|
NM_001009944.3(PKD1):c.604G>A (p.Glu202Lys)
|
rs1263936807
|
0.00001
|
NM_001009944.3(PKD1):c.6096C>T (p.Ala2032=)
|
rs776890572
|
0.00001
|
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr)
|
rs556681288
|
0.00001
|
NM_001009944.3(PKD1):c.6178G>A (p.Ala2060Thr)
|
rs371767717
|
0.00001
|
NM_001009944.3(PKD1):c.6195C>T (p.Ala2065=)
|
rs770590637
|
0.00001
|
NM_001009944.3(PKD1):c.6213C>T (p.Cys2071=)
|
rs756438676
|
0.00001
|
NM_001009944.3(PKD1):c.6220A>C (p.Asn2074His)
|
rs371281005
|
0.00001
|
NM_001009944.3(PKD1):c.6306G>A (p.Gly2102=)
|
rs368223012
|
0.00001
|
NM_001009944.3(PKD1):c.6313A>G (p.Thr2105Ala)
|
rs1229710301
|
0.00001
|
NM_001009944.3(PKD1):c.6314C>T (p.Thr2105Ile)
|
rs1341288890
|
0.00001
|
NM_001009944.3(PKD1):c.6356A>G (p.Asp2119Gly)
|
rs755560531
|
0.00001
|
NM_001009944.3(PKD1):c.6377C>T (p.Ala2126Val)
|
rs574142158
|
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.6450G>A (p.Glu2150=)
|
rs1257734818
|
0.00001
|
NM_001009944.3(PKD1):c.6468C>T (p.Pro2156=)
|
rs1396717736
|
0.00001
|
NM_001009944.3(PKD1):c.650C>T (p.Thr217Ile)
|
rs1157840279
|
0.00001
|
NM_001009944.3(PKD1):c.6514C>G (p.His2172Asp)
|
rs762002707
|
0.00001
|
NM_001009944.3(PKD1):c.6517G>A (p.Val2173Ile)
|
rs749619625
|
0.00001
|
NM_001009944.3(PKD1):c.6527G>A (p.Arg2176His)
|
rs777123546
|
0.00001
|
NM_001009944.3(PKD1):c.6557G>A (p.Arg2186His)
|
rs1046305889
|
0.00001
|
NM_001009944.3(PKD1):c.6573C>T (p.Arg2191=)
|
rs949370419
|
0.00001
|
NM_001009944.3(PKD1):c.6602C>T (p.Pro2201Leu)
|
rs564434419
|
0.00001
|
NM_001009944.3(PKD1):c.6637C>T (p.Arg2213Trp)
|
rs757222149
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001009944.3(PKD1):c.6679C>T (p.His2227Tyr)
|
rs1257476353
|
0.00001
|
NM_001009944.3(PKD1):c.669C>T (p.Ala223=)
|
rs1039241145
|
0.00001
|
NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr)
|
rs749515571
|
0.00001
|
NM_001009944.3(PKD1):c.6764G>A (p.Arg2255His)
|
rs538164729
|
0.00001
|
NM_001009944.3(PKD1):c.6771G>A (p.Val2257=)
|
rs770172913
|
0.00001
|
NM_001009944.3(PKD1):c.6778A>T (p.Ile2260Phe)
|
rs1251817986
|
0.00001
|
NM_001009944.3(PKD1):c.678G>A (p.Glu226=)
|
rs2092673013
|
0.00001
|
NM_001009944.3(PKD1):c.6836G>A (p.Ser2279Asn)
|
rs368363458
|
0.00001
|
NM_001009944.3(PKD1):c.6865G>A (p.Gly2289Ser)
|
rs371216568
|
0.00001
|
NM_001009944.3(PKD1):c.6877C>T (p.Pro2293Ser)
|
rs1383657728
|
0.00001
|
NM_001009944.3(PKD1):c.6889C>T (p.His2297Tyr)
|
rs1596549834
|
0.00001
|
NM_001009944.3(PKD1):c.6905C>T (p.Ala2302Val)
|
rs776538508
|
0.00001
|
NM_001009944.3(PKD1):c.6915+4A>G
|
rs774874586
|
0.00001
|
NM_001009944.3(PKD1):c.6952C>T (p.Arg2318Cys)
|
rs768275494
|
0.00001
|
NM_001009944.3(PKD1):c.6954C>T (p.Arg2318=)
|
rs1209701736
|
0.00001
|
NM_001009944.3(PKD1):c.6993G>A (p.Ala2331=)
|
rs1234218919
|
0.00001
|
NM_001009944.3(PKD1):c.701C>T (p.Ala234Val)
|
rs755011173
|
0.00001
|
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met)
|
rs758620810
|
0.00001
|
NM_001009944.3(PKD1):c.7065G>A (p.Thr2355=)
|
rs573444508
|
0.00001
|
NM_001009944.3(PKD1):c.7066-10C>G
|
rs776383013
|
0.00001
|
NM_001009944.3(PKD1):c.7094T>C (p.Ile2365Thr)
|
rs773151007
|
0.00001
|
NM_001009944.3(PKD1):c.709C>G (p.Pro237Ala)
|
rs1350910449
|
0.00001
|
NM_001009944.3(PKD1):c.7101C>T (p.Ser2367=)
|
rs1157963640
|
0.00001
|
NM_001009944.3(PKD1):c.7112T>C (p.Val2371Ala)
|
rs768915467
|
0.00001
|
NM_001009944.3(PKD1):c.7175G>A (p.Arg2392His)
|
rs761828545
|
0.00001
|
NM_001009944.3(PKD1):c.7183A>T (p.Asn2395Tyr)
|
rs763140198
|
0.00001
|
NM_001009944.3(PKD1):c.7207G>A (p.Gly2403Arg)
|
rs1404441554
|
0.00001
|
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)
|
rs1367567191
|
0.00001
|
NM_001009944.3(PKD1):c.7284C>T (p.Gly2428=)
|
rs1177672366
|
0.00001
|
NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg)
|
rs1430979320
|
0.00001
|
NM_001009944.3(PKD1):c.7301G>A (p.Arg2434Gln)
|
rs1378061755
|
0.00001
|
NM_001009944.3(PKD1):c.7303C>T (p.Arg2435Trp)
|
rs375739091
|
0.00001
|
NM_001009944.3(PKD1):c.7365C>T (p.Gly2455=)
|
rs758896718
|
0.00001
|
NM_001009944.3(PKD1):c.7380C>T (p.Cys2460=)
|
rs540447243
|
0.00001
|
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys)
|
rs762786891
|
0.00001
|
NM_001009944.3(PKD1):c.7437C>T (p.Phe2479=)
|
rs763775092
|
0.00001
|
NM_001009944.3(PKD1):c.7455C>T (p.His2485=)
|
rs778034654
|
0.00001
|
NM_001009944.3(PKD1):c.7459C>T (p.Leu2487Phe)
|
rs1218768369
|
0.00001
|
NM_001009944.3(PKD1):c.748G>A (p.Gly250Ser)
|
rs764726506
|
0.00001
|
NM_001009944.3(PKD1):c.7517C>T (p.Ala2506Val)
|
rs529669059
|
0.00001
|
NM_001009944.3(PKD1):c.754C>T (p.Pro252Ser)
|
rs1308219514
|
0.00001
|
NM_001009944.3(PKD1):c.7581C>T (p.Val2527=)
|
rs766719977
|
0.00001
|
NM_001009944.3(PKD1):c.7596C>G (p.Leu2532=)
|
rs571865937
|
0.00001
|
NM_001009944.3(PKD1):c.7735G>A (p.Gly2579Ser)
|
rs771135962
|
0.00001
|
NM_001009944.3(PKD1):c.7746G>A (p.Thr2582=)
|
rs141612709
|
0.00001
|
NM_001009944.3(PKD1):c.7775C>T (p.Thr2592Ile)
|
rs1458197743
|
0.00001
|
NM_001009944.3(PKD1):c.7802G>A (p.Arg2601Gln)
|
rs746482041
|
0.00001
|
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn)
|
rs778565182
|
0.00001
|
NM_001009944.3(PKD1):c.7825A>G (p.Ile2609Val)
|
rs767709756
|
0.00001
|
NM_001009944.3(PKD1):c.7839G>A (p.Leu2613=)
|
rs746388021
|
0.00001
|
NM_001009944.3(PKD1):c.7946C>T (p.Thr2649Ile)
|
rs1490043027
|
0.00001
|
NM_001009944.3(PKD1):c.7994C>T (p.Ala2665Val)
|
rs754495561
|
0.00001
|
NM_001009944.3(PKD1):c.8015T>G (p.Met2672Arg)
|
rs769848003
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.8017-6A>G
|
rs1191088575
|
0.00001
|
NM_001009944.3(PKD1):c.8043C>G (p.Arg2681=)
|
rs1040303746
|
0.00001
|
NM_001009944.3(PKD1):c.8048G>C (p.Cys2683Ser)
|
rs773445757
|
0.00001
|
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=)
|
rs377029031
|
0.00001
|
NM_001009944.3(PKD1):c.8062C>G (p.Leu2688Val)
|
rs538493647
|
0.00001
|
NM_001009944.3(PKD1):c.8116A>C (p.Thr2706Pro)
|
rs1430379983
|
0.00001
|
NM_001009944.3(PKD1):c.8134A>G (p.Ile2712Val)
|
rs778862620
|
0.00001
|
NM_001009944.3(PKD1):c.8173C>T (p.His2725Tyr)
|
rs1007019127
|
0.00001
|
NM_001009944.3(PKD1):c.8202A>G (p.Pro2734=)
|
rs764743355
|
0.00001
|
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu)
|
rs760592410
|
0.00001
|
NM_001009944.3(PKD1):c.8246C>T (p.Ala2749Val)
|
rs773014664
|
0.00001
|
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)
|
rs879809222
|
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.8390G>A (p.Gly2797Asp)
|
rs376712315
|
0.00001
|
NM_001009944.3(PKD1):c.8475C>T (p.Leu2825=)
|
rs202070927
|
0.00001
|
NM_001009944.3(PKD1):c.848C>T (p.Pro283Leu)
|
rs1433099539
|
0.00001
|
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser)
|
rs1057523051
|
0.00001
|
NM_001009944.3(PKD1):c.8504C>T (p.Pro2835Leu)
|
rs2575317
|
0.00001
|
NM_001009944.3(PKD1):c.858T>C (p.Ser286=)
|
rs886038372
|
0.00001
|
NM_001009944.3(PKD1):c.8688C>T (p.Ser2896=)
|
rs548736542
|
0.00001
|
NM_001009944.3(PKD1):c.8747C>T (p.Pro2916Leu)
|
rs775980046
|
0.00001
|
NM_001009944.3(PKD1):c.8791+5G>A
|
rs751652400
|
0.00001
|
NM_001009944.3(PKD1):c.8890C>T (p.Arg2964Cys)
|
rs139631668
|
0.00001
|
NM_001009944.3(PKD1):c.8891G>A (p.Arg2964His)
|
rs765883625
|
0.00001
|
NM_001009944.3(PKD1):c.8949-4C>T
|
rs956501802
|
0.00001
|
NM_001009944.3(PKD1):c.8977C>T (p.Leu2993=)
|
rs1365636314
|
0.00001
|
NM_001009944.3(PKD1):c.8998C>T (p.Arg3000Cys)
|
rs1279596250
|
0.00001
|
NM_001009944.3(PKD1):c.9015G>A (p.Gln3005=)
|
rs778650830
|
0.00001
|
NM_001009944.3(PKD1):c.9025G>A (p.Gly3009Ser)
|
rs756011614
|
0.00001
|
NM_001009944.3(PKD1):c.9034A>G (p.Thr3012Ala)
|
rs767541153
|
0.00001
|
NM_001009944.3(PKD1):c.9142C>T (p.Leu3048Phe)
|
rs1253909708
|
0.00001
|
NM_001009944.3(PKD1):c.9162C>T (p.Ser3054=)
|
rs757261713
|
0.00001
|
NM_001009944.3(PKD1):c.9172C>T (p.Pro3058Ser)
|
rs752906217
|
0.00001
|
NM_001009944.3(PKD1):c.9276C>T (p.Ala3092=)
|
rs1286237384
|
0.00001
|
NM_001009944.3(PKD1):c.9398-5C>T
|
rs778285879
|
0.00001
|
NM_001009944.3(PKD1):c.9398-6T>C
|
rs771284663
|
0.00001
|
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)
|
rs1358566538
|
0.00001
|
NM_001009944.3(PKD1):c.9469G>A (p.Asp3157Asn)
|
rs779683697
|
0.00001
|
NM_001009944.3(PKD1):c.9485G>A (p.Arg3162His)
|
rs1189208643
|
0.00001
|
NM_001009944.3(PKD1):c.948C>T (p.Ala316=)
|
rs771201076
|
0.00001
|
NM_001009944.3(PKD1):c.9505C>T (p.Arg3169Trp)
|
rs765180455
|
0.00001
|
NM_001009944.3(PKD1):c.9511G>T (p.Ala3171Ser)
|
rs1276306534
|
0.00001
|
NM_001009944.3(PKD1):c.9518C>T (p.Pro3173Leu)
|
rs772608027
|
0.00001
|
NM_001009944.3(PKD1):c.952G>A (p.Gly318Arg)
|
rs577675315
|
0.00001
|
NM_001009944.3(PKD1):c.9532A>G (p.Ser3178Gly)
|
rs576381756
|
0.00001
|
NM_001009944.3(PKD1):c.9534C>T (p.Ser3178=)
|
rs374200345
|
0.00001
|
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp)
|
rs1384099162
|
0.00001
|
NM_001009944.3(PKD1):c.9571C>T (p.Leu3191Phe)
|
rs760095634
|
0.00001
|
NM_001009944.3(PKD1):c.9577C>G (p.Pro3193Ala)
|
rs1296940235
|
0.00001
|
NM_001009944.3(PKD1):c.9659C>T (p.Ser3220Leu)
|
rs144246138
|
0.00001
|
NM_001009944.3(PKD1):c.9679G>A (p.Gly3227Arg)
|
rs1459262773
|
0.00001
|
NM_001009944.3(PKD1):c.9688G>C (p.Val3230Leu)
|
rs747054731
|
0.00001
|
NM_001009944.3(PKD1):c.9690G>A (p.Val3230=)
|
rs777968856
|
0.00001
|
NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys)
|
rs757771138
|
0.00001
|
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His)
|
rs1452116333
|
0.00001
|
NM_001009944.3(PKD1):c.9841G>A (p.Ala3281Thr)
|
rs1210319842
|
0.00001
|
NM_001009944.3(PKD1):c.9852C>T (p.Cys3284=)
|
rs1311808274
|
0.00001
|
NM_001009944.3(PKD1):c.9873C>G (p.Phe3291Leu)
|
rs767268955
|
0.00001
|
NM_001009944.3(PKD1):c.9885C>T (p.Asn3295=)
|
rs764028566
|
0.00001
|
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)
|
rs773798664
|
0.00001
|
NM_001009944.3(PKD1):c.9986C>T (p.Ser3329Phe)
|
rs1203304646
|
0.00001
|
NM_001009944.3(PKD1):c.9994G>T (p.Val3332Phe)
|
rs1272713748
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:2140675-2140809)
|
|
|
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
|
|
|
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
|
|
|
NC_000016.10:g.2092048_2092049dup
|
rs1596482597
|
|
NC_000016.10:g.2137318_2137960del
|
|
|
NC_000016.10:g.2137428_2137718del
|
|
|
NC_000016.9:g.(2141176_2141423)_(2161873_2162340)dup
|
|
|
NC_000016.9:g.(2142594_2142954)_(2150568_2152061)del
|
|
|
NC_000016.9:g.(2160720_2160721)_(2164927_2165378)del
|
|
|
NC_000016.9:g.(2164927_2165378)_(2185900_?)del
|
|
|
NC_000016.9:g.(2169380_2185475)_(2185900_?)del
|
|
|
NC_000016.9:g.2149731_(2150568_2152061)del
|
|
|
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
|
|
|
NM_000296.3:c.216-4133_5681del
|
|
|
NM_001009944.2(PKD1):c.12004delG
|
rs2091475541
|
|
NM_001009944.2(PKD1):c.8017-?_8161+?dup
|
|
|
NM_001009944.2(PKD1):c.8017_8024delGGGCCCAG
|
|
|
NM_001009944.3(PKD1):c.*10C>G
|
rs764028522
|
|
NM_001009944.3(PKD1):c.-109C>G
|
rs1034012323
|
|
NM_001009944.3(PKD1):c.-39G>T
|
|
|
NM_001009944.3(PKD1):c.-52C>T
|
rs1051951834
|
|
NM_001009944.3(PKD1):c.-87A>G
|
|
|
NM_001009944.3(PKD1):c.-9G>A
|
|
|
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
|
rs2544710685
|
|
NM_001009944.3(PKD1):c.10012dup (p.Leu3338fs)
|
|
|
NM_001009944.3(PKD1):c.10026del (p.Leu3343fs)
|
|
|
NM_001009944.3(PKD1):c.10026dup (p.Leu3343fs)
|
rs1567169118
|
|
NM_001009944.3(PKD1):c.10029C>T (p.Leu3343=)
|
|
|
NM_001009944.3(PKD1):c.10031del (p.Phe3344fs)
|
rs2092006545
|
|
NM_001009944.3(PKD1):c.10032C>T (p.Phe3344=)
|
|
|
NM_001009944.3(PKD1):c.10034G>A (p.Arg3345Gln)
|
|
|
NM_001009944.3(PKD1):c.10036A>T (p.Met3346Leu)
|
rs2092006341
|
|
NM_001009944.3(PKD1):c.1004C>T (p.Ala335Val)
|
|
|
NM_001009944.3(PKD1):c.1004_1019del (p.Ala335fs)
|
rs2092667308
|
|
NM_001009944.3(PKD1):c.10050+54A>G
|
rs56149818
|
|
NM_001009944.3(PKD1):c.10050G>A (p.Lys3350=)
|
|
|
NM_001009944.3(PKD1):c.10051-10C>A
|
rs3874642
|
|
NM_001009944.3(PKD1):c.10051-12C>T
|
|
|
NM_001009944.3(PKD1):c.10051-1G>A
|
|
|
NM_001009944.3(PKD1):c.10051-1G>T
|
rs1245329669
|
|
NM_001009944.3(PKD1):c.10051-2A>G
|
|
|
NM_001009944.3(PKD1):c.10051-3C>G
|
rs980155038
|
|
NM_001009944.3(PKD1):c.10054G>A (p.Ala3352Thr)
|
|
|
NM_001009944.3(PKD1):c.10057G>A (p.Gly3353Arg)
|
|
|
NM_001009944.3(PKD1):c.1005C>T (p.Ala335=)
|
|
|
NM_001009944.3(PKD1):c.10066del (p.Ser3356fs)
|
|
|
NM_001009944.3(PKD1):c.1006G>A (p.Val336Met)
|
|
|
NM_001009944.3(PKD1):c.10076del (p.Pro3359fs)
|
|
|
NM_001009944.3(PKD1):c.10082G>A (p.Gly3361Glu)
|
|
|
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter)
|
rs1567166045
|
|
NM_001009944.3(PKD1):c.10085A>G (p.Gln3362Arg)
|
|
|
NM_001009944.3(PKD1):c.10086G>T (p.Gln3362His)
|
rs767064899
|
|
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter)
|
rs2151729320
|
|
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs)
|
rs1567165997
|
|
NM_001009944.3(PKD1):c.10098C>G (p.Asp3366Glu)
|
|
|
NM_001009944.3(PKD1):c.10098C>T (p.Asp3366=)
|
|
|
NM_001009944.3(PKD1):c.10105A>G (p.Ser3369Gly)
|
|
|
NM_001009944.3(PKD1):c.1010T>G (p.Leu337Arg)
|
|
|
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
|
rs373222937
|
|
NM_001009944.3(PKD1):c.10123G>A (p.Val3375Met)
|
|
|
NM_001009944.3(PKD1):c.10127T>C (p.Leu3376Pro)
|
|
|
NM_001009944.3(PKD1):c.10128G>A (p.Leu3376=)
|
|
|
NM_001009944.3(PKD1):c.10136C>T (p.Ser3379Phe)
|
|
|
NM_001009944.3(PKD1):c.10137C>T (p.Ser3379=)
|
rs1225868729
|
|
NM_001009944.3(PKD1):c.10140_10143del (p.Phe3380fs)
|
rs2544693381
|
|
NM_001009944.3(PKD1):c.10145C>G (p.Thr3382Arg)
|
rs776463508
|
|
NM_001009944.3(PKD1):c.10146G>A (p.Thr3382=)
|
|
|
NM_001009944.3(PKD1):c.10149C>T (p.Phe3383=)
|
|
|
NM_001009944.3(PKD1):c.10151C>G (p.Ser3384Ter)
|
rs1383556063
|
|
NM_001009944.3(PKD1):c.1015_1073delinsGT (p.Leu339_Ala358delinsVal)
|
rs2544877866
|
|
NM_001009944.3(PKD1):c.10163del (p.Ala3388fs)
|
rs1596503384
|
|
NM_001009944.3(PKD1):c.10165G>A (p.Glu3389Lys)
|
rs756738297
|
|
NM_001009944.3(PKD1):c.10167+25_10167+43del
|
rs1197421698
|
|
NM_001009944.3(PKD1):c.10168-12_10168-11del
|
|
|
NM_001009944.3(PKD1):c.10168-7C>G
|
|
|
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter)
|
rs2151728536
|
|
NM_001009944.3(PKD1):c.10168_10170del
|
|
|
NM_001009944.3(PKD1):c.10177G>A (p.Val3393Ile)
|
rs2544692167
|
|
NM_001009944.3(PKD1):c.10182A>G (p.Gly3394=)
|
rs1490595478
|
|
NM_001009944.3(PKD1):c.10183C>T (p.Gln3395Ter)
|
|
|
NM_001009944.3(PKD1):c.10186A>C (p.Met3396Leu)
|
|
|
NM_001009944.3(PKD1):c.10187T>C (p.Met3396Thr)
|
rs2091905645
|
|
NM_001009944.3(PKD1):c.10188dup (p.Lys3397fs)
|
rs2544692049
|
|
NM_001009944.3(PKD1):c.10189A>T (p.Lys3397Ter)
|
|
|
NM_001009944.3(PKD1):c.10199_10205del (p.Leu3400fs)
|
|
|
NM_001009944.3(PKD1):c.1019G>A (p.Gly340Glu)
|
rs1406565745
|
|
NM_001009944.3(PKD1):c.10203dup (p.Leu3402fs)
|
rs2544691950
|
|
NM_001009944.3(PKD1):c.10207G>A (p.Asp3403Asn)
|
|
|
NM_001009944.3(PKD1):c.10219del (p.Ser3407fs)
|
rs2151728391
|
|
NM_001009944.3(PKD1):c.1021dup (p.Ala341fs)
|
rs2544878096
|
|
NM_001009944.3(PKD1):c.10220+10C>G
|
|
|
NM_001009944.3(PKD1):c.10220+1G>C
|
|
|
NM_001009944.3(PKD1):c.10220+20C>T
|
|
|
NM_001009944.3(PKD1):c.10220+2_10220+3del
|
rs1114167366
|
|
NM_001009944.3(PKD1):c.10220+4G>C
|
|
|
NM_001009944.3(PKD1):c.10221-3C>T
|
|
|
NM_001009944.3(PKD1):c.10221-80del
|
rs113824832
|
|
NM_001009944.3(PKD1):c.10229G>A (p.Cys3410Tyr)
|
|
|
NM_001009944.3(PKD1):c.10230_10231dup (p.Trp3411fs)
|
|
|
NM_001009944.3(PKD1):c.10232G>A (p.Trp3411Ter)
|
|
|
NM_001009944.3(PKD1):c.10233G>A (p.Trp3411Ter)
|
rs1300254603
|
|
NM_001009944.3(PKD1):c.10233G>T (p.Trp3411Cys)
|
|
|
NM_001009944.3(PKD1):c.10233del (p.Trp3411fs)
|
rs1596501760
|
|
NM_001009944.3(PKD1):c.10234C>A (p.Pro3412Thr)
|
|
|
NM_001009944.3(PKD1):c.10236del (p.Ser3413fs)
|
rs2544689115
|
|
NM_001009944.3(PKD1):c.10238C>T (p.Ser3413Phe)
|
|
|
NM_001009944.3(PKD1):c.10247del (p.Gly3416fs)
|
rs1596501702
|
|
NM_001009944.3(PKD1):c.10248A>T (p.Gly3416=)
|
|
|
NM_001009944.3(PKD1):c.10249A>G (p.Thr3417Ala)
|
|
|
NM_001009944.3(PKD1):c.10249delinsGTT (p.Thr3417fs)
|
|
|
NM_001009944.3(PKD1):c.10251G>A (p.Thr3417=)
|
|
|
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)
|
rs2544688790
|
|
NM_001009944.3(PKD1):c.10264G>T (p.Asp3422Tyr)
|
|
|
NM_001009944.3(PKD1):c.10270C>T (p.Leu3424Phe)
|
rs776300382
|
|
NM_001009944.3(PKD1):c.10273A>G (p.Ser3425Gly)
|
|
|
NM_001009944.3(PKD1):c.10280C>T (p.Pro3427Leu)
|
|
|
NM_001009944.3(PKD1):c.10280_10289del (p.Pro3427fs)
|
|
|
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs)
|
rs2151726918
|
|
NM_001009944.3(PKD1):c.10285A>G (p.Ile3429Val)
|
rs371881043
|
|
NM_001009944.3(PKD1):c.10287T>C (p.Ile3429=)
|
rs2544688553
|
|
NM_001009944.3(PKD1):c.10289_10305dup (p.Gln3436fs)
|
rs2544688348
|
|
NM_001009944.3(PKD1):c.1028C>T (p.Ser343Leu)
|
|
|
NM_001009944.3(PKD1):c.10290G>A (p.Val3430=)
|
rs2544688515
|
|
NM_001009944.3(PKD1):c.10291G>T (p.Gly3431Cys)
|
rs1289793709
|
|
NM_001009944.3(PKD1):c.10292del (p.Gly3431fs)
|
|
|
NM_001009944.3(PKD1):c.10296C>T (p.Ser3432=)
|
rs1209470071
|
|
NM_001009944.3(PKD1):c.102del (p.Glu34fs)
|
|
|
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)
|
rs2151726823
|
|
NM_001009944.3(PKD1):c.10307_10329del (p.Gln3436fs)
|
rs2544688079
|
|
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs)
|
rs2091891993
|
|
NM_001009944.3(PKD1):c.10320_10337delinsATGGCC (p.Gln3441_Leu3446delinsTrpPro)
|
rs1555448280
|
|
NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter)
|
rs918228674
|
|
NM_001009944.3(PKD1):c.10321_10325del (p.Gln3441fs)
|
rs2544688140
|
|
NM_001009944.3(PKD1):c.10348G>A (p.Glu3450Lys)
|
|
|
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter)
|
rs780009030
|
|
NM_001009944.3(PKD1):c.10349A>G (p.Glu3450Gly)
|
rs1321795630
|
|
NM_001009944.3(PKD1):c.10350G>C (p.Glu3450Asp)
|
|
|
NM_001009944.3(PKD1):c.10351G>A (p.Asp3451Asn)
|
|
|
NM_001009944.3(PKD1):c.10354G>C (p.Gly3452Arg)
|
|
|
NM_001009944.3(PKD1):c.10354G>T (p.Gly3452Cys)
|
|
|
NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs)
|
rs2151726623
|
|
NM_001009944.3(PKD1):c.10373C>T (p.Pro3458Leu)
|
|
|
NM_001009944.3(PKD1):c.10377C>G (p.Tyr3459Ter)
|
rs1596501163
|
|
NM_001009944.3(PKD1):c.10379C>G (p.Ser3460Trp)
|
|
|
NM_001009944.3(PKD1):c.10387A>G (p.Lys3463Glu)
|
|
|
NM_001009944.3(PKD1):c.10387A>T (p.Lys3463Ter)
|
rs150020128
|
|
NM_001009944.3(PKD1):c.10395C>T (p.Phe3465=)
|
|
|
NM_001009944.3(PKD1):c.10397C>G (p.Ser3466Ter)
|
rs147464577
|
|
NM_001009944.3(PKD1):c.1039_1045del (p.Gly347fs)
|
rs1567217194
|
|
NM_001009944.3(PKD1):c.103_104delinsA (p.Pro35fs)
|
|
|
NM_001009944.3(PKD1):c.10403C>T (p.Ser3468Leu)
|
|
|
NM_001009944.3(PKD1):c.10405+1G>A
|
|
|
NM_001009944.3(PKD1):c.10405+1G>T
|
|
|
NM_001009944.3(PKD1):c.10405+5G>A
|
|
|
NM_001009944.3(PKD1):c.10405+5G>T
|
rs2091888953
|
|
NM_001009944.3(PKD1):c.10405+9G>A
|
|
|
NM_001009944.3(PKD1):c.10405G>A (p.Asp3469Asn)
|
|
|
NM_001009944.3(PKD1):c.10405G>C (p.Asp3469His)
|
|
|
NM_001009944.3(PKD1):c.10406-13C>T
|
|
|
NM_001009944.3(PKD1):c.10406-4C>G
|
|
|
NM_001009944.3(PKD1):c.10407T>A (p.Asp3469Glu)
|
rs373139880
|
|
NM_001009944.3(PKD1):c.10414C>T (p.Leu3472=)
|
|
|
NM_001009944.3(PKD1):c.10417_10419delinsT (p.Ile3473fs)
|
rs1567164013
|
|
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)
|
rs2544685880
|
|
NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile)
|
rs776616291
|
|
NM_001009944.3(PKD1):c.10426G>C (p.Val3476Leu)
|
|
|
NM_001009944.3(PKD1):c.10429C>T (p.Leu3477Phe)
|
|
|
NM_001009944.3(PKD1):c.10433C>T (p.Ala3478Val)
|
rs2544685787
|
|
NM_001009944.3(PKD1):c.10435G>T (p.Glu3479Ter)
|
|
|
NM_001009944.3(PKD1):c.10441G>T (p.Val3481Phe)
|
|
|
NM_001009944.3(PKD1):c.10441del (p.Val3481fs)
|
rs2091884240
|
|
NM_001009944.3(PKD1):c.10441dup (p.Val3481fs)
|
rs2091884240
|
|
NM_001009944.3(PKD1):c.10447A>G (p.Ser3483Gly)
|
|
|
NM_001009944.3(PKD1):c.10450C>G (p.Pro3484Ala)
|
|
|
NM_001009944.3(PKD1):c.10451C>G (p.Pro3484Arg)
|
|
|
NM_001009944.3(PKD1):c.10451C>T (p.Pro3484Leu)
|
|
|
NM_001009944.3(PKD1):c.10454C>T (p.Ala3485Val)
|
|
|
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.10468A>G (p.Thr3490Ala)
|
|
|
NM_001009944.3(PKD1):c.10472A>G (p.His3491Arg)
|
|
|
NM_001009944.3(PKD1):c.10477del (p.Glu3493fs)
|
|
|
NM_001009944.3(PKD1):c.1047_1049del (p.Asp349_Val350delinsGlu)
|
rs1567217173
|
|
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg)
|
rs752503970
|
|
NM_001009944.3(PKD1):c.10485C>A (p.Asp3495Glu)
|
|
|
NM_001009944.3(PKD1):c.10487del (p.Leu3496fs)
|
rs1555448106
|
|
NM_001009944.3(PKD1):c.1048G>A (p.Val350Met)
|
|
|
NM_001009944.3(PKD1):c.10499+18G>A
|
|
|
NM_001009944.3(PKD1):c.10499+7G>C
|
|
|
NM_001009944.3(PKD1):c.10510C>T (p.Pro3504Ser)
|
|
|
NM_001009944.3(PKD1):c.10511C>T (p.Pro3504Leu)
|
|
|
NM_001009944.3(PKD1):c.10513G>T (p.Gly3505Trp)
|
|
|
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs)
|
rs2151710519
|
|
NM_001009944.3(PKD1):c.1051C>T (p.Gln351Ter)
|
|
|
NM_001009944.3(PKD1):c.10524_10525insT (p.Glu3509Ter)
|
|
|
NM_001009944.3(PKD1):c.10524del (p.Glu3509fs)
|
rs2091741402
|
|
NM_001009944.3(PKD1):c.10524dup (p.Glu3509fs)
|
rs2151710478
|
|
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)
|
rs1378307448
|
|
NM_001009944.3(PKD1):c.10527_10529delinsT (p.Glu3509fs)
|
|
|
NM_001009944.3(PKD1):c.10532T>C (p.Leu3511Pro)
|
|
|
NM_001009944.3(PKD1):c.10540C>T (p.Gln3514Ter)
|
rs1567159623
|
|
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs)
|
rs2151710347
|
|
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs)
|
rs2151710316
|
|
NM_001009944.3(PKD1):c.10550_10551insCCA (p.Gly3517_Glu3518insGln)
|
|
|
NM_001009944.3(PKD1):c.10552G>T (p.Glu3518Ter)
|
|
|
NM_001009944.3(PKD1):c.10552_10585del (p.Glu3518fs)
|
rs1567159386
|
|
NM_001009944.3(PKD1):c.10552del (p.Glu3518fs)
|
|
|
NM_001009944.3(PKD1):c.10560dup (p.Pro3521fs)
|
rs1555447196
|
|
NM_001009944.3(PKD1):c.10563_10567del (p.Ser3523fs)
|
rs2544654552
|
|
NM_001009944.3(PKD1):c.10569C>A (p.Ser3523Arg)
|
rs1567159486
|
|
NM_001009944.3(PKD1):c.10570C>T (p.Pro3524Ser)
|
|
|
NM_001009944.3(PKD1):c.10571C>T (p.Pro3524Leu)
|
|
|
NM_001009944.3(PKD1):c.10573_10594dup (p.Gln3532fs)
|
rs2544654195
|
|
NM_001009944.3(PKD1):c.10574G>T (p.Gly3525Val)
|
rs114523369
|
|
NM_001009944.3(PKD1):c.10576C>G (p.Leu3526Val)
|
|
|
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=)
|
rs745763060
|
|
NM_001009944.3(PKD1):c.1057G>T (p.Glu353Ter)
|
|
|
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)
|
rs1057516041
|
|
NM_001009944.3(PKD1):c.10588C>T (p.Gln3530Ter)
|
rs1596490025
|
|
NM_001009944.3(PKD1):c.10594C>T (p.Gln3532Ter)
|
|
|
NM_001009944.3(PKD1):c.10594dup (p.Gln3532fs)
|
|
|
NM_001009944.3(PKD1):c.10598_10614del (p.Ala3533fs)
|
|
|
NM_001009944.3(PKD1):c.10602G>A (p.Ala3534=)
|
rs572474052
|
|
NM_001009944.3(PKD1):c.10604G>C (p.Arg3535Thr)
|
rs761222928
|
|
NM_001009944.3(PKD1):c.10615_10618+1del
|
rs2544653894
|
|
NM_001009944.3(PKD1):c.10618+2T>C
|
rs1555447153
|
|
NM_001009944.3(PKD1):c.10618+2T>G
|
rs1555447153
|
|
NM_001009944.3(PKD1):c.10619-12_10619-11del
|
rs1287879038
|
|
NM_001009944.3(PKD1):c.10619-14C>T
|
|
|
NM_001009944.3(PKD1):c.10619-1G>A
|
rs1567159074
|
|
NM_001009944.3(PKD1):c.10619-2A>G
|
rs2544652543
|
|
NM_001009944.3(PKD1):c.1061C>T (p.Ala354Val)
|
|
|
NM_001009944.3(PKD1):c.10622dup (p.Val3542fs)
|
|
|
NM_001009944.3(PKD1):c.10626G>A (p.Val3542=)
|
|
|
NM_001009944.3(PKD1):c.1062G>A (p.Ala354=)
|
|
|
NM_001009944.3(PKD1):c.10630G>A (p.Gly3544Ser)
|
rs2544652344
|
|
NM_001009944.3(PKD1):c.10636C>T (p.Arg3546Trp)
|
|
|
NM_001009944.3(PKD1):c.10637G>A (p.Arg3546Gln)
|
|
|
NM_001009944.3(PKD1):c.10642C>T (p.Arg3548Cys)
|
|
|
NM_001009944.3(PKD1):c.10646T>A (p.Leu3549Gln)
|
rs2544652179
|
|
NM_001009944.3(PKD1):c.10652_10662del (p.Pro3551fs)
|
|
|
NM_001009944.3(PKD1):c.10653_10665dup (p.Ser3556fs)
|
|
|
NM_001009944.3(PKD1):c.10657T>C (p.Trp3553Arg)
|
|
|
NM_001009944.3(PKD1):c.10657T>G (p.Trp3553Gly)
|
rs1349398113
|
|
NM_001009944.3(PKD1):c.10658G>A (p.Trp3553Ter)
|
rs1321748065
|
|
NM_001009944.3(PKD1):c.10659G>C (p.Trp3553Cys)
|
|
|
NM_001009944.3(PKD1):c.10659del (p.Trp3553fs)
|
rs1555447057
|
|
NM_001009944.3(PKD1):c.10669del (p.Leu3557fs)
|
|
|
NM_001009944.3(PKD1):c.10670T>G (p.Leu3557Arg)
|
rs2544651770
|
|
NM_001009944.3(PKD1):c.1067C>T (p.Pro356Leu)
|
|
|
NM_001009944.3(PKD1):c.10680del (p.Leu3561fs)
|
|
|
NM_001009944.3(PKD1):c.10689G>A (p.Leu3563=)
|
|
|
NM_001009944.3(PKD1):c.10691_10692del (p.Leu3564fs)
|
|
|
NM_001009944.3(PKD1):c.10692C>T (p.Leu3564=)
|
rs144614222
|
|
NM_001009944.3(PKD1):c.10694T>G (p.Leu3565Arg)
|
rs2091727215
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[1] (p.3567AV[1])
|
rs777460677
|
|
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.1069_1072delinsACCA (p.Ala357_Ala358delinsThrThr)
|
|
|
NM_001009944.3(PKD1):c.10700C>T (p.Ala3567Val)
|
rs2151708958
|
|
NM_001009944.3(PKD1):c.10703_10728del (p.Val3568fs)
|
|
|
NM_001009944.3(PKD1):c.10708G>A (p.Val3570Met)
|
|
|
NM_001009944.3(PKD1):c.10709_10710del (p.Val3570fs)
|
|
|
NM_001009944.3(PKD1):c.10711dup (p.Ala3571fs)
|
rs2544651236
|
|
NM_001009944.3(PKD1):c.10712C>G (p.Ala3571Gly)
|
|
|
NM_001009944.3(PKD1):c.10714_10717del (p.Val3572fs)
|
|
|
NM_001009944.3(PKD1):c.10720G>A (p.Gly3574Arg)
|
|
|
NM_001009944.3(PKD1):c.10720G>C (p.Gly3574Arg)
|
rs2544651044
|
|
NM_001009944.3(PKD1):c.10722del (p.Trp3575fs)
|
|
|
NM_001009944.3(PKD1):c.10723dup (p.Trp3575fs)
|
|
|
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter)
|
rs1361283193
|
|
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter)
|
rs1177764199
|
|
NM_001009944.3(PKD1):c.10725_10726dup (p.Val3576fs)
|
rs2151708812
|
|
NM_001009944.3(PKD1):c.10729_10732dup (p.Ala3578fs)
|
|
|
NM_001009944.3(PKD1):c.1072G>C (p.Ala358Pro)
|
|
|
NM_001009944.3(PKD1):c.10733del (p.Ala3578fs)
|
rs2091725538
|
|
NM_001009944.3(PKD1):c.10739_10740dup (p.Pro3581fs)
|
|
|
NM_001009944.3(PKD1):c.1073C>T (p.Ala358Val)
|
|
|
NM_001009944.3(PKD1):c.10742C>T (p.Pro3581Leu)
|
|
|
NM_001009944.3(PKD1):c.10745del (p.Pro3582fs)
|
|
|
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)
|
rs1555447011
|
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NM_001009944.3(PKD1):c.10747G>A (p.Gly3583Ser)
|
|
|
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs)
|
rs2151708652
|
|
NM_001009944.3(PKD1):c.10751dup (p.Ser3585fs)
|
|
|
NM_001009944.3(PKD1):c.10759dup (p.Ala3587fs)
|
|
|
NM_001009944.3(PKD1):c.10762T>A (p.Trp3588Arg)
|
|
|
NM_001009944.3(PKD1):c.10763G>A (p.Trp3588Ter)
|
|
|
NM_001009944.3(PKD1):c.10764G>A (p.Trp3588Ter)
|
rs2151708577
|
|
NM_001009944.3(PKD1):c.10764G>T (p.Trp3588Cys)
|
rs2151708577
|
|
NM_001009944.3(PKD1):c.10766_10767del (p.Leu3589fs)
|
|
|
NM_001009944.3(PKD1):c.10771T>C (p.Ser3591Pro)
|
rs2544650348
|
|
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe)
|
rs2091723749
|
|
NM_001009944.3(PKD1):c.10774A>C (p.Ser3592Arg)
|
rs1431066682
|
|
NM_001009944.3(PKD1):c.10774AGC[1] (p.Ser3593del)
|
|
|
NM_001009944.3(PKD1):c.10776C>G (p.Ser3592Arg)
|
|
|
NM_001009944.3(PKD1):c.10778G>C (p.Ser3593Thr)
|
|
|
NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg)
|
rs1485228851
|
|
NM_001009944.3(PKD1):c.1078_1088del (p.Glu360fs)
|
rs1555459001
|
|
NM_001009944.3(PKD1):c.10792G>C (p.Ala3598Pro)
|
|
|
NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu)
|
rs2544650057
|
|
NM_001009944.3(PKD1):c.10800C>T (p.Phe3600=)
|
|
|
NM_001009944.3(PKD1):c.10801C>T (p.Leu3601Phe)
|
rs769952764
|
|
NM_001009944.3(PKD1):c.10802T>G (p.Leu3601Arg)
|
rs2544649965
|
|
NM_001009944.3(PKD1):c.10803_10807del (p.Trp3603fs)
|
|
|
NM_001009944.3(PKD1):c.10804G>C (p.Gly3602Arg)
|
|
|
NM_001009944.3(PKD1):c.10807T>A (p.Trp3603Arg)
|
|
|
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys)
|
rs2091722550
|
|
NM_001009944.3(PKD1):c.10814C>T (p.Pro3605Leu)
|
|
|
NM_001009944.3(PKD1):c.10817T>C (p.Leu3606Pro)
|
|
|
NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg)
|
rs1057516200
|
|
NM_001009944.3(PKD1):c.10819A>G (p.Lys3607Glu)
|
rs2151708378
|
|
NM_001009944.3(PKD1):c.10820A>T (p.Lys3607Met)
|
rs1555446946
|
|
NM_001009944.3(PKD1):c.10821+1G>A
|
rs1596488823
|
|
NM_001009944.3(PKD1):c.10821+1G>C
|
|
|
NM_001009944.3(PKD1):c.10821+1del
|
rs1596488828
|
|
NM_001009944.3(PKD1):c.10821+2T>G
|
|
|
NM_001009944.3(PKD1):c.10821+4A>G
|
rs2544649806
|
|
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
|
rs2544648459
|
|
NM_001009944.3(PKD1):c.10822-3C>G
|
rs2544648778
|
|
NM_001009944.3(PKD1):c.10822-8del
|
rs373684171
|
|
NM_001009944.3(PKD1):c.10828C>G (p.Leu3610Val)
|
|
|
NM_001009944.3(PKD1):c.10834G>A (p.Ala3612Thr)
|
|
|
NM_001009944.3(PKD1):c.10834G>C (p.Ala3612Pro)
|
|
|
NM_001009944.3(PKD1):c.10842C>A (p.Tyr3614Ter)
|
|
|
NM_001009944.3(PKD1):c.10842C>G (p.Tyr3614Ter)
|
rs1367335682
|
|
NM_001009944.3(PKD1):c.10846_10847dup (p.Leu3617fs)
|
rs2544648514
|
|
NM_001009944.3(PKD1):c.10849C>G (p.Leu3617Val)
|
|
|
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro)
|
rs1567158067
|
|
NM_001009944.3(PKD1):c.10861C>T (p.Arg3621Trp)
|
|
|
NM_001009944.3(PKD1):c.10862G>A (p.Arg3621Gln)
|
|
|
NM_001009944.3(PKD1):c.10871C>T (p.Pro3624Leu)
|
rs764059379
|
|
NM_001009944.3(PKD1):c.1087T>G (p.Cys363Gly)
|
rs2544877825
|
|
NM_001009944.3(PKD1):c.10880A>G (p.Asp3627Gly)
|
|
|
NM_001009944.3(PKD1):c.10895A>C (p.Glu3632Ala)
|
|
|
NM_001009944.3(PKD1):c.10895_10898del (p.Glu3632fs)
|
|
|
NM_001009944.3(PKD1):c.108del (p.Cys37fs)
|
rs2092941062
|
|
NM_001009944.3(PKD1):c.108dup (p.Cys37fs)
|
|
|
NM_001009944.3(PKD1):c.10901C>T (p.Pro3634Leu)
|
|
|
NM_001009944.3(PKD1):c.10911G>A (p.Thr3637=)
|
|
|
NM_001009944.3(PKD1):c.10917G>T (p.Val3639=)
|
|
|
NM_001009944.3(PKD1):c.1091dup (p.Ser365fs)
|
|
|
NM_001009944.3(PKD1):c.10921G>A (p.Ala3641Thr)
|
|
|
NM_001009944.3(PKD1):c.10922C>T (p.Ala3641Val)
|
rs2091707606
|
|
NM_001009944.3(PKD1):c.10924C>A (p.Arg3642Ser)
|
rs746934982
|
|
NM_001009944.3(PKD1):c.10934G>A (p.Arg3645His)
|
|
|
NM_001009944.3(PKD1):c.10936G>A (p.Val3646Ile)
|
|
|
NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr)
|
rs2091706456
|
|
NM_001009944.3(PKD1):c.10943C>T (p.Pro3648Leu)
|
rs1165539684
|
|
NM_001009944.3(PKD1):c.10943dup (p.Pro3649fs)
|
|
|
NM_001009944.3(PKD1):c.10945C>T (p.Pro3649Ser)
|
rs2544647097
|
|
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.10948C>A (p.His3650Asn)
|
|
|
NM_001009944.3(PKD1):c.10950C>T (p.His3650=)
|
|
|
NM_001009944.3(PKD1):c.10950delinsGTGG (p.His3650delinsGlnTrp)
|
|
|
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.10960C>G (p.Leu3654Val)
|
rs2544646868
|
|
NM_001009944.3(PKD1):c.10961T>A (p.Leu3654His)
|
rs1555446828
|
|
NM_001009944.3(PKD1):c.10961_10982del (p.Leu3654fs)
|
rs2544646598
|
|
NM_001009944.3(PKD1):c.10964_10965delinsAA (p.Phe3655Ter)
|
|
|
NM_001009944.3(PKD1):c.10964del (p.Phe3655fs)
|
rs2544646806
|
|
NM_001009944.3(PKD1):c.10966C>T (p.Leu3656=)
|
rs898443059
|
|
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs)
|
rs2544646762
|
|
NM_001009944.3(PKD1):c.10969G>A (p.Ala3657Thr)
|
rs2544646708
|
|
NM_001009944.3(PKD1):c.10969G>C (p.Ala3657Pro)
|
|
|
NM_001009944.3(PKD1):c.1096T>C (p.Ser366Pro)
|
rs2092666416
|
|
NM_001009944.3(PKD1):c.10970C>T (p.Ala3657Val)
|
|
|
NM_001009944.3(PKD1):c.10974G>T (p.Lys3658Asn)
|
|
|
NM_001009944.3(PKD1):c.1097C>A (p.Ser366Ter)
|
rs752356523
|
|
NM_001009944.3(PKD1):c.1097C>G (p.Ser366Trp)
|
rs752356523
|
|
NM_001009944.3(PKD1):c.1097C>T (p.Ser366Leu)
|
|
|
NM_001009944.3(PKD1):c.10984C>T (p.Arg3662Cys)
|
|
|
NM_001009944.3(PKD1):c.10987A>G (p.Lys3663Glu)
|
|
|
NM_001009944.3(PKD1):c.1098G>C (p.Ser366=)
|
rs1450062463
|
|
NM_001009944.3(PKD1):c.10990G>A (p.Val3664Ile)
|
rs112970540
|
|
NM_001009944.3(PKD1):c.10993_10994del (p.Lys3665fs)
|
|
|
NM_001009944.3(PKD1):c.10998del (p.Arg3666fs)
|
rs1567157447
|
|
NM_001009944.3(PKD1):c.109T>G (p.Cys37Gly)
|
|
|
NM_001009944.3(PKD1):c.109del (p.Cys37fs)
|
rs2151858299
|
|
NM_001009944.3(PKD1):c.10G>C (p.Ala4Pro)
|
rs2544960800
|
|
NM_001009944.3(PKD1):c.11002C>T (p.His3668Tyr)
|
|
|
NM_001009944.3(PKD1):c.11002_11003dup (p.Gly3669fs)
|
rs2544646304
|
|
NM_001009944.3(PKD1):c.11004T>A (p.His3668Gln)
|
|
|
NM_001009944.3(PKD1):c.11005G>C (p.Gly3669Arg)
|
|
|
NM_001009944.3(PKD1):c.11007C>T (p.Gly3669=)
|
rs2544646197
|
|
NM_001009944.3(PKD1):c.1100del (p.Val367fs)
|
|
|
NM_001009944.3(PKD1):c.11012T>C (p.Leu3671Pro)
|
|
|
NM_001009944.3(PKD1):c.11016+1G>A
|
rs2151707040
|
|
NM_001009944.3(PKD1):c.11016+1G>C
|
|
|
NM_001009944.3(PKD1):c.11016+2T>C
|
|
|
NM_001009944.3(PKD1):c.11016+7C>G
|
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
NM_001009944.3(PKD1):c.11017-10C>T
|
|
|
NM_001009944.3(PKD1):c.11017-12C>G
|
|
|
NM_001009944.3(PKD1):c.11017-16dup
|
rs543923323
|
|
NM_001009944.3(PKD1):c.11017-1G>C
|
|
|
NM_001009944.3(PKD1):c.11017-1G>T
|
|
|
NM_001009944.3(PKD1):c.11017-25A>C
|
rs2151704874
|
|
NM_001009944.3(PKD1):c.11017-25A>G
|
rs2151704874
|
|
NM_001009944.3(PKD1):c.11017-27T>C
|
|
|
NM_001009944.3(PKD1):c.11017-47_11022del
|
rs2091672168
|
|
NM_001009944.3(PKD1):c.11017-6C>G
|
rs2544639635
|
|
NM_001009944.3(PKD1):c.11017-9G>A
|
|
|
NM_001009944.3(PKD1):c.11023del (p.Leu3675fs)
|
rs2544639462
|
|
NM_001009944.3(PKD1):c.11027T>G (p.Val3676Gly)
|
|
|
NM_001009944.3(PKD1):c.11028_11035dup (p.Leu3679fs)
|
|
|
NM_001009944.3(PKD1):c.11032A>G (p.Met3678Val)
|
|
|
NM_001009944.3(PKD1):c.11033del (p.Met3678fs)
|
rs1555446637
|
|
NM_001009944.3(PKD1):c.11035C>G (p.Leu3679Val)
|
|
|
NM_001009944.3(PKD1):c.11036T>A (p.Leu3679His)
|
rs2544639255
|
|
NM_001009944.3(PKD1):c.11041C>A (p.Leu3681Met)
|
|
|
NM_001009944.3(PKD1):c.11046G>A (p.Leu3682=)
|
|
|
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs)
|
rs1596485991
|
|
NM_001009944.3(PKD1):c.11057T>G (p.Leu3686Arg)
|
|
|
NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs)
|
rs1555446611
|
|
NM_001009944.3(PKD1):c.1105_1106del (p.Gln368_Ser369insTer)
|
rs2544877719
|
|
NM_001009944.3(PKD1):c.11064C>G (p.Ser3688Arg)
|
|
|
NM_001009944.3(PKD1):c.11071_11088dup (p.Gly3696_His3697insAspAlaSerCysHisGly)
|
|
|
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs)
|
rs2091670117
|
|
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter)
|
rs745912756
|
|
NM_001009944.3(PKD1):c.11082C>G (p.Cys3694Trp)
|
|
|
NM_001009944.3(PKD1):c.11087G>A (p.Gly3696Glu)
|
rs2151704449
|
|
NM_001009944.3(PKD1):c.11088del (p.His3697fs)
|
|
|
NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys)
|
rs758831274
|
|
NM_001009944.3(PKD1):c.11099G>A (p.Arg3700His)
|
rs141668965
|
|
NM_001009944.3(PKD1):c.11099G>T (p.Arg3700Leu)
|
|
|
NM_001009944.3(PKD1):c.11099_11101dup (p.Arg3700_Leu3701insArg)
|
rs2544638455
|
|
NM_001009944.3(PKD1):c.110G>A (p.Cys37Tyr)
|
|
|
NM_001009944.3(PKD1):c.11102T>C (p.Leu3701Pro)
|
rs2544638432
|
|
NM_001009944.3(PKD1):c.11103G>C (p.Leu3701=)
|
|
|
NM_001009944.3(PKD1):c.11104C>T (p.Gln3702Ter)
|
|
|
NM_001009944.3(PKD1):c.11105A>C (p.Gln3702Pro)
|
rs2091668585
|
|
NM_001009944.3(PKD1):c.11110G>C (p.Ala3704Pro)
|
rs537844225
|
|
NM_001009944.3(PKD1):c.11112_11119dup (p.Gln3707fs)
|
rs2151704327
|
|
NM_001009944.3(PKD1):c.11115del (p.Lys3706fs)
|
|
|
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.1111G>T (p.Glu371Ter)
|
|
|
NM_001009944.3(PKD1):c.11122G>T (p.Glu3708Ter)
|
rs1596485816
|
|
NM_001009944.3(PKD1):c.11122_11156+1del
|
|
|
NM_001009944.3(PKD1):c.11123A>C (p.Glu3708Ala)
|
|
|
NM_001009944.3(PKD1):c.11134C>T (p.Arg3712Trp)
|
|
|
NM_001009944.3(PKD1):c.11134del (p.Arg3712fs)
|
|
|
NM_001009944.3(PKD1):c.11137dup (p.Ala3713fs)
|
rs1555446582
|
|
NM_001009944.3(PKD1):c.11139C>T (p.Ala3713=)
|
rs2544638074
|
|
NM_001009944.3(PKD1):c.11144T>G (p.Leu3715Arg)
|
|
|
NM_001009944.3(PKD1):c.11150T>G (p.Ile3717Ser)
|
rs2544637950
|
|
NM_001009944.3(PKD1):c.11151C>G (p.Ile3717Met)
|
|
|
NM_001009944.3(PKD1):c.11152_11153del (p.Thr3718fs)
|
rs2544637927
|
|
NM_001009944.3(PKD1):c.11155C>T (p.Arg3719Trp)
|
rs1428669259
|
|
NM_001009944.3(PKD1):c.11156+12C>A
|
|
|
NM_001009944.3(PKD1):c.11156+12_11156+13delinsAA
|
rs2091665982
|
|
NM_001009944.3(PKD1):c.11156+1G>A
|
|
|
NM_001009944.3(PKD1):c.11156+1G>C
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.11156+1G>T
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.11156+2T>C
|
rs2151704173
|
|
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)
|
rs1555446576
|
|
NM_001009944.3(PKD1):c.11157-1G>A
|
rs2091646317
|
|
NM_001009944.3(PKD1):c.11157-29G>T
|
|
|
NM_001009944.3(PKD1):c.11157-3C>G
|
|
|
NM_001009944.3(PKD1):c.11157G>T (p.Arg3719=)
|
|
|
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala)
|
rs780574700
|
|
NM_001009944.3(PKD1):c.11161dup (p.Glu3721fs)
|
rs2151702333
|
|
NM_001009944.3(PKD1):c.11172G>A (p.Trp3724Ter)
|
|
|
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.11178G>A (p.Trp3726Ter)
|
rs2091645594
|
|
NM_001009944.3(PKD1):c.11178G>C (p.Trp3726Cys)
|
rs2091645594
|
|
NM_001009944.3(PKD1):c.11182G>C (p.Ala3728Pro)
|
|
|
NM_001009944.3(PKD1):c.11187C>A (p.His3729Gln)
|
rs369801323
|
|
NM_001009944.3(PKD1):c.11188G>A (p.Val3730Met)
|
|
|
NM_001009944.3(PKD1):c.1118_1119delinsGT (p.Leu373Arg)
|
rs2544877658
|
|
NM_001009944.3(PKD1):c.11192_11193delinsCT (p.Leu3731Pro)
|
rs2544632089
|
|
NM_001009944.3(PKD1):c.11195T>C (p.Leu3732Pro)
|
|
|
NM_001009944.3(PKD1):c.11199C>T (p.Pro3733=)
|
rs1596484465
|
|
NM_001009944.3(PKD1):c.111C>A (p.Cys37Ter)
|
rs2092941027
|
|
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs)
|
rs1567155179
|
|
NM_001009944.3(PKD1):c.11201A>G (p.Tyr3734Cys)
|
|
|
NM_001009944.3(PKD1):c.11205C>G (p.Val3735=)
|
rs766223963
|
|
NM_001009944.3(PKD1):c.11207A>G (p.His3736Arg)
|
rs2151702137
|
|
NM_001009944.3(PKD1):c.11209_11210inv (p.Gly3737Pro)
|
|
|
NM_001009944.3(PKD1):c.11213A>G (p.Asn3738Ser)
|
rs1555446380
|
|
NM_001009944.3(PKD1):c.11214C>G (p.Asn3738Lys)
|
rs2151702101
|
|
NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter)
|
rs1567155145
|
|
NM_001009944.3(PKD1):c.11228A>G (p.Glu3743Gly)
|
|
|
NM_001009944.3(PKD1):c.11235dup (p.Pro3746fs)
|
rs2544631623
|
|
NM_001009944.3(PKD1):c.11239C>T (p.Pro3747Ser)
|
|
|
NM_001009944.3(PKD1):c.11240C>A (p.Pro3747Gln)
|
rs2151701971
|
|
NM_001009944.3(PKD1):c.11240del (p.Pro3747fs)
|
|
|
NM_001009944.3(PKD1):c.11242C>T (p.Arg3748Trp)
|
rs2091642915
|
|
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro)
|
rs546924823
|
|
NM_001009944.3(PKD1):c.11246T>C (p.Leu3749Pro)
|
rs2544631424
|
|
NM_001009944.3(PKD1):c.11248C>T (p.Arg3750Trp)
|
rs1356378120
|
|
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.11251_11265dup (p.Gln3751_Gln3755dup)
|
rs1057518104
|
|
NM_001009944.3(PKD1):c.11251_11266del (p.Gln3751fs)
|
rs1567154939
|
|
NM_001009944.3(PKD1):c.11253G>T (p.Gln3751His)
|
rs2544631346
|
|
NM_001009944.3(PKD1):c.11255T>G (p.Val3752Gly)
|
|
|
NM_001009944.3(PKD1):c.11257C>A (p.Arg3753=)
|
|
|
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)
|
rs1167476946
|
|
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.11258G>C (p.Arg3753Pro)
|
rs1555446330
|
|
NM_001009944.3(PKD1):c.11261T>C (p.Leu3754Pro)
|
rs2151701845
|
|
NM_001009944.3(PKD1):c.11263C>T (p.Gln3755Ter)
|
rs2091642103
|
|
NM_001009944.3(PKD1):c.11269+1G>C
|
|
|
NM_001009944.3(PKD1):c.11269+1G>T
|
rs2544631133
|
|
NM_001009944.3(PKD1):c.11269+3G>C
|
|
|
NM_001009944.3(PKD1):c.11269+6C>T
|
|
|
NM_001009944.3(PKD1):c.11269+8G>C
|
|
|
NM_001009944.3(PKD1):c.11270-10T>A
|
rs1567154300
|
|
NM_001009944.3(PKD1):c.11270-10T>G
|
rs1567154300
|
|
NM_001009944.3(PKD1):c.11270-17_11346delinsCCG
|
|
|
NM_001009944.3(PKD1):c.11270-1G>A
|
rs2151700092
|
|
NM_001009944.3(PKD1):c.11270-1G>T
|
|
|
NM_001009944.3(PKD1):c.11270-25_11316del
|
rs2544625593
|
|
NM_001009944.3(PKD1):c.11270-4del
|
|
|
NM_001009944.3(PKD1):c.11270-5T>C
|
|
|
NM_001009944.3(PKD1):c.11270-6T>G
|
|
|
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs)
|
rs1555446105
|
|
NM_001009944.3(PKD1):c.11275T>C (p.Tyr3759His)
|
|
|
NM_001009944.3(PKD1):c.11277C>A (p.Tyr3759Ter)
|
|
|
NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter)
|
rs369825780
|
|
NM_001009944.3(PKD1):c.11277_11280dup (p.Asp3761fs)
|
|
|
NM_001009944.3(PKD1):c.11278C>T (p.Pro3760Ser)
|
|
|
NM_001009944.3(PKD1):c.11280dup (p.Asp3761fs)
|
|
|
NM_001009944.3(PKD1):c.11285C>T (p.Pro3762Leu)
|
|
|
NM_001009944.3(PKD1):c.11286_11308del (p.Pro3763fs)
|
|
|
NM_001009944.3(PKD1):c.11289C>G (p.Pro3763=)
|
|
|
NM_001009944.3(PKD1):c.11289_11299del (p.Gly3764fs)
|
rs2151699891
|
|
NM_001009944.3(PKD1):c.11289del (p.Gly3764fs)
|
|
|
NM_001009944.3(PKD1):c.11290G>A (p.Gly3764Ser)
|
|
|
NM_001009944.3(PKD1):c.11291G>T (p.Gly3764Val)
|
|
|
NM_001009944.3(PKD1):c.11292C>T (p.Gly3764=)
|
|
|
NM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs)
|
rs2091620612
|
|
NM_001009944.3(PKD1):c.11297G>A (p.Arg3766Lys)
|
|
|
NM_001009944.3(PKD1):c.11299_11342del (p.Val3767fs)
|
rs2544625256
|
|
NM_001009944.3(PKD1):c.112C>G (p.Leu38Val)
|
rs1030433875
|
|
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.11308_11312dup (p.Ala3773fs)
|
|
|
NM_001009944.3(PKD1):c.11311_11312dup (p.Ala3772fs)
|
rs2091620763
|
|
NM_001009944.3(PKD1):c.11313_11314insCCCG (p.Ala3772fs)
|
rs2091620545
|
|
NM_001009944.3(PKD1):c.11314del (p.Ala3772fs)
|
rs1555446033
|
|
NM_001009944.3(PKD1):c.11315_11321del (p.Ala3772fs)
|
rs2544625519
|
|
NM_001009944.3(PKD1):c.11316C>A (p.Ala3772=)
|
|
|
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)
|
rs201085734
|
|
NM_001009944.3(PKD1):c.11317G>A (p.Ala3773Thr)
|
|
|
NM_001009944.3(PKD1):c.11319A>G (p.Ala3773=)
|
rs537179634
|
|
NM_001009944.3(PKD1):c.11322A>T (p.Gly3774=)
|
|
|
NM_001009944.3(PKD1):c.11325_11344del (p.Phe3776fs)
|
|
|
NM_001009944.3(PKD1):c.11327T>G (p.Phe3776Cys)
|
|
|
NM_001009944.3(PKD1):c.1132C>T (p.Gln378Ter)
|
rs2544877617
|
|
NM_001009944.3(PKD1):c.11330G>A (p.Ser3777Asn)
|
|
|
NM_001009944.3(PKD1):c.11333C>A (p.Thr3778Asn)
|
|
|
NM_001009944.3(PKD1):c.11338G>A (p.Asp3780Asn)
|
|
|
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs)
|
rs1555445999
|
|
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del)
|
rs2091618795
|
|
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.11341_11346dup (p.Asp3782_Val3783insTyrAsp)
|
rs2151699578
|
|
NM_001009944.3(PKD1):c.11342ACG[1] (p.Asp3782del)
|
|
|
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp)
|
rs2091618553
|
|
NM_001009944.3(PKD1):c.11342_11353del (p.Tyr3781_Gly3784del)
|
|
|
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)
|
rs2091619053
|
|
NM_001009944.3(PKD1):c.11344G>T (p.Asp3782Tyr)
|
|
|
NM_001009944.3(PKD1):c.11344_11366dup (p.His3789fs)
|
rs2544624823
|
|
NM_001009944.3(PKD1):c.11344del (p.Asp3782fs)
|
rs2091618928
|
|
NM_001009944.3(PKD1):c.11346del (p.Asp3782fs)
|
|
|
NM_001009944.3(PKD1):c.11347G>C (p.Val3783Leu)
|
rs200120839
|
|
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val)
|
rs142455071
|
|
NM_001009944.3(PKD1):c.11352_11355del (p.Trp3785fs)
|
|
|
NM_001009944.3(PKD1):c.11352_11355dup (p.Glu3786fs)
|
|
|
NM_001009944.3(PKD1):c.11353T>C (p.Trp3785Arg)
|
|
|
NM_001009944.3(PKD1):c.11354G>A (p.Trp3785Ter)
|
|
|
NM_001009944.3(PKD1):c.11355G>A (p.Trp3785Ter)
|
|
|
NM_001009944.3(PKD1):c.11355G>T (p.Trp3785Cys)
|
rs2091617906
|
|
NM_001009944.3(PKD1):c.11359_11370del (p.Ser3787_Asn3790del)
|
|
|
NM_001009944.3(PKD1):c.11361T>A (p.Ser3787Arg)
|
|
|
NM_001009944.3(PKD1):c.11366_11369del (p.His3789fs)
|
|
|
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.11379dup (p.Thr3794fs)
|
|
|
NM_001009944.3(PKD1):c.11381C>G (p.Thr3794Arg)
|
|
|
NM_001009944.3(PKD1):c.11384G>A (p.Trp3795Ter)
|
rs2151699315
|
|
NM_001009944.3(PKD1):c.11385G>A (p.Trp3795Ter)
|
rs2544624559
|
|
NM_001009944.3(PKD1):c.11385G>T (p.Trp3795Cys)
|
rs2544624559
|
|
NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs)
|
rs2544624546
|
|
NM_001009944.3(PKD1):c.11388del (p.Tyr3797fs)
|
rs2091615030
|
|
NM_001009944.3(PKD1):c.11389T>G (p.Tyr3797Asp)
|
|
|
NM_001009944.3(PKD1):c.11389dup (p.Tyr3797fs)
|
|
|
NM_001009944.3(PKD1):c.1138C>T (p.Arg380Cys)
|
|
|
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys)
|
rs138629093
|
|
NM_001009944.3(PKD1):c.11396C>A (p.Ala3799Glu)
|
|
|
NM_001009944.3(PKD1):c.11399C>G (p.Pro3800Arg)
|
rs2091613857
|
|
NM_001009944.3(PKD1):c.1139G>A (p.Arg380His)
|
|
|
NM_001009944.3(PKD1):c.11404C>A (p.Leu3802Met)
|
rs756308252
|
|
NM_001009944.3(PKD1):c.11406G>A (p.Leu3802=)
|
rs1441305804
|
|
NM_001009944.3(PKD1):c.11410G>A (p.Gly3804Arg)
|
rs2091612949
|
|
NM_001009944.3(PKD1):c.11410G>C (p.Gly3804Arg)
|
|
|
NM_001009944.3(PKD1):c.11411+1G>C
|
rs2091612821
|
|
NM_001009944.3(PKD1):c.11411+1G>T
|
|
|
NM_001009944.3(PKD1):c.11411+2T>C
|
|
|
NM_001009944.3(PKD1):c.11411+4A>G
|
rs2544624200
|
|
NM_001009944.3(PKD1):c.11411+5G>A
|
rs2544624169
|
|
NM_001009944.3(PKD1):c.11411+5G>C
|
|
|
NM_001009944.3(PKD1):c.11411+5_11411+38delinsAGGG
|
|
|
NM_001009944.3(PKD1):c.11412-1G>A
|
|
|
NM_001009944.3(PKD1):c.11412-1G>C
|
rs2544621386
|
|
NM_001009944.3(PKD1):c.11412-2A>C
|
rs1555445771
|
|
NM_001009944.3(PKD1):c.11412-2dup
|
rs1596481858
|
|
NM_001009944.3(PKD1):c.11412-3C>G
|
rs1567153315
|
|
NM_001009944.3(PKD1):c.11412-6C>A
|
|
|
NM_001009944.3(PKD1):c.11412-7C>A
|
|
|
NM_001009944.3(PKD1):c.11412-7C>G
|
rs553377243
|
|
NM_001009944.3(PKD1):c.11412-7C>T
|
rs553377243
|
|
NM_001009944.3(PKD1):c.11412-7_11468del
|
rs2544620556
|
|
NM_001009944.3(PKD1):c.11414C>T (p.Ala3805Val)
|
|
|
NM_001009944.3(PKD1):c.11416T>G (p.Trp3806Gly)
|
rs2091602155
|
|
NM_001009944.3(PKD1):c.11418G>A (p.Trp3806Ter)
|
|
|
NM_001009944.3(PKD1):c.11418G>C (p.Trp3806Cys)
|
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11421dup (p.Trp3808fs)
|
|
|
NM_001009944.3(PKD1):c.11423G>A (p.Trp3808Ter)
|
rs2544621217
|
|
NM_001009944.3(PKD1):c.11425G>C (p.Gly3809Arg)
|
rs1339698223
|
|
NM_001009944.3(PKD1):c.11426G>A (p.Gly3809Asp)
|
rs2854584
|
|
NM_001009944.3(PKD1):c.11426dup (p.Ser3810fs)
|
rs2091601824
|
|
NM_001009944.3(PKD1):c.11431T>C (p.Cys3811Arg)
|
|
|
NM_001009944.3(PKD1):c.11432G>A (p.Cys3811Tyr)
|
rs1596481794
|
|
NM_001009944.3(PKD1):c.11441_11459dup (p.Val3820_Gln3821insTer)
|
|
|
NM_001009944.3(PKD1):c.11443del (p.Asp3815fs)
|
|
|
NM_001009944.3(PKD1):c.11449G>A (p.Gly3817Arg)
|
rs2544620832
|
|
NM_001009944.3(PKD1):c.11450G>A (p.Gly3817Glu)
|
rs1168911293
|
|
NM_001009944.3(PKD1):c.11450G>C (p.Gly3817Ala)
|
|
|
NM_001009944.3(PKD1):c.11452G>C (p.Gly3818Arg)
|
|
|
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)
|
rs2151698069
|
|
NM_001009944.3(PKD1):c.11452_11453del (p.Gly3818fs)
|
|
|
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)
|
rs1555445740
|
|
NM_001009944.3(PKD1):c.11453G>T (p.Gly3818Val)
|
|
|
NM_001009944.3(PKD1):c.11453del (p.Gly3818fs)
|
rs1567153194
|
|
NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs)
|
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.11458G>A (p.Val3820Met)
|
|
|
NM_001009944.3(PKD1):c.11458G>C (p.Val3820Leu)
|
rs749953469
|
|
NM_001009944.3(PKD1):c.1145G>A (p.Gly382Asp)
|
|
|
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)
|
rs1325300747
|
|
NM_001009944.3(PKD1):c.11467_11480del (p.Leu3823fs)
|
rs2544620365
|
|
NM_001009944.3(PKD1):c.11471del (p.Gly3824fs)
|
rs2544620523
|
|
NM_001009944.3(PKD1):c.11477G>A (p.Ser3826Asn)
|
|
|
NM_001009944.3(PKD1):c.11482GAG[1] (p.Glu3829del)
|
rs1596481630
|
|
NM_001009944.3(PKD1):c.11485G>A (p.Glu3829Lys)
|
|
|
NM_001009944.3(PKD1):c.11488_11489del (p.Ser3830fs)
|
rs2544620270
|
|
NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter)
|
rs1286585831
|
|
NM_001009944.3(PKD1):c.1148C>G (p.Ser383Ter)
|
|
|
NM_001009944.3(PKD1):c.11491C>T (p.Arg3831Cys)
|
|
|
NM_001009944.3(PKD1):c.11492G>A (p.Arg3831His)
|
|
|
NM_001009944.3(PKD1):c.11496C>G (p.Asp3832Glu)
|
rs1337985878
|
|
NM_001009944.3(PKD1):c.11501T>G (p.Leu3834Arg)
|
rs2544620025
|
|
NM_001009944.3(PKD1):c.11502_11506del (p.Arg3835fs)
|
|
|
NM_001009944.3(PKD1):c.1150G>T (p.Gly384Cys)
|
|
|
NM_001009944.3(PKD1):c.11510T>G (p.Leu3837Arg)
|
rs2544619907
|
|
NM_001009944.3(PKD1):c.11511G>A (p.Leu3837=)
|
|
|
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)
|
rs199476096
|
|
NM_001009944.3(PKD1):c.11519A>C (p.His3840Pro)
|
rs2544619758
|
|
NM_001009944.3(PKD1):c.11522A>G (p.Asn3841Ser)
|
|
|
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.11526G>A (p.Trp3842Ter)
|
rs2544619656
|
|
NM_001009944.3(PKD1):c.11526G>C (p.Trp3842Cys)
|
|
|
NM_001009944.3(PKD1):c.11527C>T (p.Leu3843=)
|
|
|
NM_001009944.3(PKD1):c.11528dup (p.Asp3844fs)
|
|
|
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His)
|
rs2151697614
|
|
NM_001009944.3(PKD1):c.11532C>A (p.Asp3844Glu)
|
|
|
NM_001009944.3(PKD1):c.11532C>G (p.Asp3844Glu)
|
|
|
NM_001009944.3(PKD1):c.11533A>G (p.Asn3845Asp)
|
|
|
NM_001009944.3(PKD1):c.11537+17C>G
|
rs201660914
|
|
NM_001009944.3(PKD1):c.11537+1G>A
|
rs2544619495
|
|
NM_001009944.3(PKD1):c.11537+2T>A
|
rs2151697557
|
|
NM_001009944.3(PKD1):c.11538-10C>A
|
rs377419559
|
|
NM_001009944.3(PKD1):c.11538-10C>T
|
rs377419559
|
|
NM_001009944.3(PKD1):c.11538-2A>C
|
rs2544615836
|
|
NM_001009944.3(PKD1):c.11538-2del
|
rs1555445595
|
|
NM_001009944.3(PKD1):c.11538-4G>T
|
rs763279854
|
|
NM_001009944.3(PKD1):c.11538-51_11554del
|
rs2544615546
|
|
NM_001009944.3(PKD1):c.11538-5C>G
|
|
|
NM_001009944.3(PKD1):c.11539A>C (p.Ser3847Arg)
|
rs2091581338
|
|
NM_001009944.3(PKD1):c.11546C>A (p.Ala3849Asp)
|
|
|
NM_001009944.3(PKD1):c.11547_11610del (p.Val3850fs)
|
|
|
NM_001009944.3(PKD1):c.11548G>T (p.Val3850Leu)
|
|
|
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro)
|
rs2092665731
|
|
NM_001009944.3(PKD1):c.11552T>G (p.Phe3851Cys)
|
|
|
NM_001009944.3(PKD1):c.11552_11557del (p.Phe3851_Glu3853delinsTer)
|
rs2544615479
|
|
NM_001009944.3(PKD1):c.11552del (p.Phe3851fs)
|
rs2091580617
|
|
NM_001009944.3(PKD1):c.11553C>G (p.Phe3851Leu)
|
|
|
NM_001009944.3(PKD1):c.11553C>T (p.Phe3851=)
|
|
|
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)
|
rs2091580237
|
|
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter)
|
rs2091580237
|
|
NM_001009944.3(PKD1):c.11558A>G (p.Glu3853Gly)
|
|
|
NM_001009944.3(PKD1):c.11563A>C (p.Thr3855Pro)
|
|
|
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)
|
rs1555445585
|
|
NM_001009944.3(PKD1):c.11563dup (p.Thr3855fs)
|
rs1596480400
|
|
NM_001009944.3(PKD1):c.11564C>A (p.Thr3855Lys)
|
|
|
NM_001009944.3(PKD1):c.11564C>G (p.Thr3855Arg)
|
|
|
NM_001009944.3(PKD1):c.11565_11571dup (p.Ser3858fs)
|
rs2091579496
|
|
NM_001009944.3(PKD1):c.11566C>G (p.Arg3856Gly)
|
|
|
NM_001009944.3(PKD1):c.11567_11568del (p.Arg3856fs)
|
rs2544615278
|
|
NM_001009944.3(PKD1):c.11568C>G (p.Arg3856=)
|
|
|
NM_001009944.3(PKD1):c.1156G>A (p.Glu386Lys)
|
|
|
NM_001009944.3(PKD1):c.11570A>G (p.Tyr3857Cys)
|
|
|
NM_001009944.3(PKD1):c.11570dup (p.Tyr3857Ter)
|
rs1555445579
|
|
NM_001009944.3(PKD1):c.11572_11592del (p.Ser3858_His3864del)
|
|
|
NM_001009944.3(PKD1):c.11578_11593del (p.Ala3860fs)
|
|
|
NM_001009944.3(PKD1):c.11579C>T (p.Ala3860Val)
|
rs2091579119
|
|
NM_001009944.3(PKD1):c.11579_11582del (p.Ala3860fs)
|
|
|
NM_001009944.3(PKD1):c.11580_11581delinsT (p.Val3861fs)
|
|
|
NM_001009944.3(PKD1):c.11583_11594dup (p.Ala3865_Ala3866insGlyLeuHisAla)
|
|
|
NM_001009944.3(PKD1):c.11586dup (p.Leu3863fs)
|
|
|
NM_001009944.3(PKD1):c.11587C>A (p.Leu3863Met)
|
|
|
NM_001009944.3(PKD1):c.11588T>A (p.Leu3863Gln)
|
|
|
NM_001009944.3(PKD1):c.11588_11592del (p.Leu3863fs)
|
|
|
NM_001009944.3(PKD1):c.11591dup (p.His3864fs)
|
|
|
NM_001009944.3(PKD1):c.11592C>T (p.His3864=)
|
rs569270149
|
|
NM_001009944.3(PKD1):c.11595_11605dup (p.Leu3869fs)
|
|
|
NM_001009944.3(PKD1):c.11599G>A (p.Val3867Ile)
|
|
|
NM_001009944.3(PKD1):c.11600T>A (p.Val3867Asp)
|
rs2544614874
|
|
NM_001009944.3(PKD1):c.11602A>G (p.Thr3868Ala)
|
|
|
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro)
|
rs1555445569
|
|
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg)
|
rs1555445569
|
|
NM_001009944.3(PKD1):c.11609G>C (p.Arg3870Pro)
|
|
|
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln)
|
rs2091577195
|
|
NM_001009944.3(PKD1):c.11614G>T (p.Glu3872Ter)
|
|
|
NM_001009944.3(PKD1):c.11615A>T (p.Glu3872Val)
|
|
|
NM_001009944.3(PKD1):c.11617T>C (p.Phe3873Leu)
|
|
|
NM_001009944.3(PKD1):c.11621del (p.Pro3874fs)
|
rs2151695543
|
|
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs)
|
rs2151695526
|
|
NM_001009944.3(PKD1):c.11626_11653del (p.Ala3876fs)
|
rs2544614209
|
|
NM_001009944.3(PKD1):c.11628_11629insA (p.Gly3877fs)
|
rs2091576236
|
|
NM_001009944.3(PKD1):c.1162G>T (p.Ala388Ser)
|
rs772111757
|
|
NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs)
|
rs2544614330
|
|
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs)
|
rs2151695288
|
|
NM_001009944.3(PKD1):c.11634C>T (p.Arg3878=)
|
|
|
NM_001009944.3(PKD1):c.11635_11649dup (p.Leu3883_Ser3884insAlaLeuAlaAlaLeu)
|
|
|
NM_001009944.3(PKD1):c.11642C>A (p.Ala3881Asp)
|
rs2544614386
|
|
NM_001009944.3(PKD1):c.11643C>T (p.Ala3881=)
|
rs1555445526
|
|
NM_001009944.3(PKD1):c.11646C>G (p.Ala3882=)
|
rs1233644486
|
|
NM_001009944.3(PKD1):c.11649_11662del (p.Ser3884fs)
|
rs1596480112
|
|
NM_001009944.3(PKD1):c.11650del (p.Ser3884fs)
|
rs2544614260
|
|
NM_001009944.3(PKD1):c.11654T>G (p.Val3885Gly)
|
rs80360483
|
|
NM_001009944.3(PKD1):c.11656C>A (p.Arg3886Ser)
|
rs1057522812
|
|
NM_001009944.3(PKD1):c.11657G>C (p.Arg3886Pro)
|
rs773875298
|
|
NM_001009944.3(PKD1):c.1165_1167delinsAT (p.Tyr389fs)
|
|
|
NM_001009944.3(PKD1):c.11661del (p.Phe3888fs)
|
rs2151695275
|
|
NM_001009944.3(PKD1):c.11665G>T (p.Ala3889Ser)
|
rs1300036375
|
|
NM_001009944.3(PKD1):c.11674C>A (p.Arg3892Ser)
|
|
|
NM_001009944.3(PKD1):c.11674C>T (p.Arg3892Cys)
|
|
|
NM_001009944.3(PKD1):c.11674_11676delinsTT (p.Arg3892fs)
|
|
|
NM_001009944.3(PKD1):c.11674_11695del (p.Arg3892fs)
|
rs2544613573
|
|
NM_001009944.3(PKD1):c.11677C>G (p.Leu3893Val)
|
rs973293202
|
|
NM_001009944.3(PKD1):c.11679C>T (p.Leu3893=)
|
|
|
NM_001009944.3(PKD1):c.11683G>A (p.Ala3895Thr)
|
|
|
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val)
|
rs1251469390
|
|
NM_001009944.3(PKD1):c.11685_11695del (p.Gly3896fs)
|
|
|
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.11693C>T (p.Ser3898Leu)
|
|
|
NM_001009944.3(PKD1):c.11693_11702del (p.Ser3898fs)
|
rs2544613308
|
|
NM_001009944.3(PKD1):c.11696T>C (p.Leu3899Pro)
|
|
|
NM_001009944.3(PKD1):c.11699C>T (p.Pro3900Leu)
|
|
|
NM_001009944.3(PKD1):c.1169G>A (p.Ser390Asn)
|
|
|
NM_001009944.3(PKD1):c.116G>A (p.Cys39Tyr)
|
rs2151858290
|
|
NM_001009944.3(PKD1):c.11703dup (p.Leu3902fs)
|
rs2544613272
|
|
NM_001009944.3(PKD1):c.11708C>G (p.Thr3903Ser)
|
|
|
NM_001009944.3(PKD1):c.11711C>A (p.Ser3904Ter)
|
|
|
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp)
|
rs2091571469
|
|
NM_001009944.3(PKD1):c.11711C>T (p.Ser3904Leu)
|
|
|
NM_001009944.3(PKD1):c.11712+1G>A
|
|
|
NM_001009944.3(PKD1):c.11712+1G>C
|
rs2091571329
|
|
NM_001009944.3(PKD1):c.11712+2T>C
|
rs2091571271
|
|
NM_001009944.3(PKD1):c.11712+8C>T
|
|
|
NM_001009944.3(PKD1):c.11713-10C>T
|
rs1473504987
|
|
NM_001009944.3(PKD1):c.11713-1G>A
|
rs867092741
|
|
NM_001009944.3(PKD1):c.11713-1G>T
|
|
|
NM_001009944.3(PKD1):c.11713-26C>T
|
rs773610869
|
|
NM_001009944.3(PKD1):c.11713-26_11713-25insCTCT
|
rs1305981000
|
|
NM_001009944.3(PKD1):c.11713-29T>A
|
rs1555445308
|
|
NM_001009944.3(PKD1):c.11713-29_11713-8del
|
rs2544601088
|
|
NM_001009944.3(PKD1):c.11713-2A>G
|
rs1555445274
|
|
NM_001009944.3(PKD1):c.11713-2A>T
|
|
|
NM_001009944.3(PKD1):c.11713-2_11718dup
|
|
|
NM_001009944.3(PKD1):c.11713-31C>T
|
rs1318395645
|
|
NM_001009944.3(PKD1):c.11713-3C>A
|
rs754015180
|
|
NM_001009944.3(PKD1):c.11713-3C>G
|
rs754015180
|
|
NM_001009944.3(PKD1):c.11713-5C>A
|
rs778989685
|
|
NM_001009944.3(PKD1):c.11713-63_11713-30dup
|
rs1555445311
|
|
NM_001009944.3(PKD1):c.11713-6C>G
|
|
|
NM_001009944.3(PKD1):c.11713-97_11713-30del
|
rs1567150714
|
|
NM_001009944.3(PKD1):c.11713-9C>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)
|
rs369291413
|
|
NM_001009944.3(PKD1):c.11718C>T (p.Cys3906=)
|
|
|
NM_001009944.3(PKD1):c.1171A>T (p.Ile391Phe)
|
|
|
NM_001009944.3(PKD1):c.1171dup (p.Ile391fs)
|
rs2092665584
|
|
NM_001009944.3(PKD1):c.11720T>G (p.Leu3907Arg)
|
|
|
NM_001009944.3(PKD1):c.11722dup (p.Leu3908fs)
|
rs2544600781
|
|
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.11726T>G (p.Leu3909Arg)
|
|
|
NM_001009944.3(PKD1):c.11726_11733delinsGCAGCAGGCGAAGTGGCAGCA (p.Leu3909fs)
|
|
|
NM_001009944.3(PKD1):c.11728T>C (p.Phe3910Leu)
|
|
|
NM_001009944.3(PKD1):c.11729_11747del (p.Phe3910fs)
|
rs2544600433
|
|
NM_001009944.3(PKD1):c.11729delinsGCA (p.Phe3910fs)
|
|
|
NM_001009944.3(PKD1):c.11730C>A (p.Phe3910Leu)
|
|
|
NM_001009944.3(PKD1):c.11737C>T (p.His3913Tyr)
|
rs771945881
|
|
NM_001009944.3(PKD1):c.11741T>C (p.Phe3914Ser)
|
|
|
NM_001009944.3(PKD1):c.11741dup (p.Ala3915fs)
|
rs2544600517
|
|
NM_001009944.3(PKD1):c.11743G>C (p.Ala3915Pro)
|
rs1555445237
|
|
NM_001009944.3(PKD1):c.11743_11744delinsAA (p.Ala3915Asn)
|
|
|
NM_001009944.3(PKD1):c.11744C>A (p.Ala3915Asp)
|
rs778893944
|
|
NM_001009944.3(PKD1):c.11744C>T (p.Ala3915Val)
|
rs778893944
|
|
NM_001009944.3(PKD1):c.11745C>A (p.Ala3915=)
|
|
|
NM_001009944.3(PKD1):c.11746G>T (p.Val3916Leu)
|
|
|
NM_001009944.3(PKD1):c.11748G>A (p.Val3916=)
|
rs2544600376
|
|
NM_001009944.3(PKD1):c.11749G>T (p.Ala3917Ser)
|
|
|
NM_001009944.3(PKD1):c.11751C>A (p.Ala3917=)
|
|
|
NM_001009944.3(PKD1):c.11751C>T (p.Ala3917=)
|
|
|
NM_001009944.3(PKD1):c.11752G>A (p.Glu3918Lys)
|
|
|
NM_001009944.3(PKD1):c.11752G>T (p.Glu3918Ter)
|
rs1555445229
|
|
NM_001009944.3(PKD1):c.11758C>T (p.Arg3920Cys)
|
rs538314197
|
|
NM_001009944.3(PKD1):c.11762C>G (p.Thr3921Ser)
|
rs762372063
|
|
NM_001009944.3(PKD1):c.11765G>A (p.Trp3922Ter)
|
|
|
NM_001009944.3(PKD1):c.11765_11790dup (p.Leu3931fs)
|
rs2544599608
|
|
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter)
|
rs2091498706
|
|
NM_001009944.3(PKD1):c.11768A>C (p.His3923Pro)
|
rs1472012498
|
|
NM_001009944.3(PKD1):c.11769dup (p.Arg3924fs)
|
|
|
NM_001009944.3(PKD1):c.11771G>A (p.Arg3924Lys)
|
|
|
NM_001009944.3(PKD1):c.11773G>T (p.Glu3925Ter)
|
rs1425693814
|
|
NM_001009944.3(PKD1):c.11778dup (p.Arg3927fs)
|
rs2544599759
|
|
NM_001009944.3(PKD1):c.11779C>T (p.Arg3927Cys)
|
|
|
NM_001009944.3(PKD1):c.11783G>A (p.Trp3928Ter)
|
rs764746483
|
|
NM_001009944.3(PKD1):c.11784G>A (p.Trp3928Ter)
|
rs759035704
|
|
NM_001009944.3(PKD1):c.11785C>T (p.Arg3929Cys)
|
|
|
NM_001009944.3(PKD1):c.11787C>T (p.Arg3929=)
|
|
|
NM_001009944.3(PKD1):c.11797del (p.Leu3933fs)
|
|
|
NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs)
|
rs1555445192
|
|
NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)
|
|
|
NM_001009944.3(PKD1):c.11800_11801del (p.Gly3934fs)
|
rs2544599434
|
|
NM_001009944.3(PKD1):c.11803G>A (p.Ala3935Thr)
|
|
|
NM_001009944.3(PKD1):c.11805dup (p.Trp3936fs)
|
rs2544599360
|
|
NM_001009944.3(PKD1):c.11814G>A (p.Arg3938=)
|
rs2544599251
|
|
NM_001009944.3(PKD1):c.11814del (p.Trp3939fs)
|
|
|
NM_001009944.3(PKD1):c.11816G>A (p.Trp3939Ter)
|
rs2544599226
|
|
NM_001009944.3(PKD1):c.11819_11828dup (p.Leu3944fs)
|
|
|
NM_001009944.3(PKD1):c.11824_11878dup (p.Asp3960delinsGlyGlyAlaAspGlyGlyHisGlyThrGlyThrProArgProAlaGlyCysArgTer)
|
|
|
NM_001009944.3(PKD1):c.11827G>C (p.Ala3943Pro)
|
|
|
NM_001009944.3(PKD1):c.11827G>T (p.Ala3943Ser)
|
|
|
NM_001009944.3(PKD1):c.11828C>T (p.Ala3943Val)
|
|
|
NM_001009944.3(PKD1):c.11831T>C (p.Leu3944Pro)
|
rs2091494966
|
|
NM_001009944.3(PKD1):c.11834C>T (p.Thr3945Met)
|
|
|
NM_001009944.3(PKD1):c.11835GGC[1] (p.Ala3947del)
|
rs2544598929
|
|
NM_001009944.3(PKD1):c.11837C>A (p.Ala3946Glu)
|
|
|
NM_001009944.3(PKD1):c.11837C>T (p.Ala3946Val)
|
|
|
NM_001009944.3(PKD1):c.11839G>C (p.Ala3947Pro)
|
|
|
NM_001009944.3(PKD1):c.11839_11840delinsTT (p.Ala3947Phe)
|
|
|
NM_001009944.3(PKD1):c.1183_1195dup (p.Ala399fs)
|
|
|
NM_001009944.3(PKD1):c.11843C>G (p.Thr3948Arg)
|
rs2544598854
|
|
NM_001009944.3(PKD1):c.11847_11866del (p.Leu3950fs)
|
|
|
NM_001009944.3(PKD1):c.11852T>A (p.Val3951Glu)
|
rs1555445164
|
|
NM_001009944.3(PKD1):c.11853dup (p.Arg3952fs)
|
rs2091493781
|
|
NM_001009944.3(PKD1):c.11855G>A (p.Arg3952His)
|
|
|
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro)
|
rs1424496188
|
|
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)
|
rs2091493090
|
|
NM_001009944.3(PKD1):c.11864A>G (p.Gln3955Arg)
|
|
|
NM_001009944.3(PKD1):c.11864_11865delinsC (p.Gln3955fs)
|
|
|
NM_001009944.3(PKD1):c.11868_11869insACT (p.Leu3956_Gly3957insThr)
|
rs1567149662
|
|
NM_001009944.3(PKD1):c.1186G>A (p.Glu396Lys)
|
|
|
NM_001009944.3(PKD1):c.11872G>A (p.Ala3958Thr)
|
|
|
NM_001009944.3(PKD1):c.11872G>C (p.Ala3958Pro)
|
rs2091492509
|
|
NM_001009944.3(PKD1):c.11874C>T (p.Ala3958=)
|
|
|
NM_001009944.3(PKD1):c.11875G>A (p.Ala3959Thr)
|
|
|
NM_001009944.3(PKD1):c.11875G>C (p.Ala3959Pro)
|
rs756245085
|
|
NM_001009944.3(PKD1):c.11880C>A (p.Asp3960Glu)
|
rs754037517
|
|
NM_001009944.3(PKD1):c.11881_11981del (p.Arg3961fs)
|
rs2544596612
|
|
NM_001009944.3(PKD1):c.11882G>T (p.Arg3961Leu)
|
|
|
NM_001009944.3(PKD1):c.11883C>G (p.Arg3961=)
|
rs746126808
|
|
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)
|
rs1596476503
|
|
NM_001009944.3(PKD1):c.11888G>A (p.Trp3963Ter)
|
|
|
NM_001009944.3(PKD1):c.11889G>A (p.Trp3963Ter)
|
rs2091491322
|
|
NM_001009944.3(PKD1):c.11893C>A (p.Arg3965Ser)
|
rs1381961196
|
|
NM_001009944.3(PKD1):c.11893C>T (p.Arg3965Cys)
|
|
|
NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)
|
|
|
NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967fs)
|
rs886040959
|
|
NM_001009944.3(PKD1):c.11904C>G (p.Arg3968=)
|
rs1458447193
|
|
NM_001009944.3(PKD1):c.11905_11916del (p.Gly3969_Arg3972del)
|
|
|
NM_001009944.3(PKD1):c.11906G>C (p.Gly3969Ala)
|
|
|
NM_001009944.3(PKD1):c.11906G>T (p.Gly3969Val)
|
rs752098759
|
|
NM_001009944.3(PKD1):c.11912del (p.Pro3971fs)
|
rs1555445123
|
|
NM_001009944.3(PKD1):c.11913_11916dup (p.Arg3973fs)
|
|
|
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.11917C>A (p.Arg3973Ser)
|
|
|
NM_001009944.3(PKD1):c.11921_11942dup (p.Ala3981_Gln3982insHisTer)
|
rs1596476300
|
|
NM_001009944.3(PKD1):c.11924C>T (p.Thr3975Ile)
|
rs760251071
|
|
NM_001009944.3(PKD1):c.11926A>G (p.Ser3976Gly)
|
|
|
NM_001009944.3(PKD1):c.11927G>T (p.Ser3976Ile)
|
rs1022699284
|
|
NM_001009944.3(PKD1):c.11930dup (p.Asp3978fs)
|
rs2151686766
|
|
NM_001009944.3(PKD1):c.11932_11939delinsACG (p.Asp3978fs)
|
|
|
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)
|
rs2544597444
|
|
NM_001009944.3(PKD1):c.11939T>G (p.Val3980Gly)
|
rs2544597374
|
|
NM_001009944.3(PKD1):c.11944C>A (p.Gln3982Lys)
|
|
|
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)
|
rs1161012209
|
|
NM_001009944.3(PKD1):c.11947del (p.Gln3982_Leu3983insTer)
|
|
|
NM_001009944.3(PKD1):c.11948T>C (p.Leu3983Pro)
|
|
|
NM_001009944.3(PKD1):c.11952C>G (p.Ser3984Arg)
|
|
|
NM_001009944.3(PKD1):c.11955C>G (p.Ser3985=)
|
rs369544915
|
|
NM_001009944.3(PKD1):c.11959G>A (p.Ala3987Thr)
|
rs1393724243
|
|
NM_001009944.3(PKD1):c.11960C>T (p.Ala3987Val)
|
rs781622501
|
|
NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys)
|
rs747425659
|
|
NM_001009944.3(PKD1):c.11962dup (p.Arg3988fs)
|
|
|
NM_001009944.3(PKD1):c.11966G>C (p.Gly3989Ala)
|
|
|
NM_001009944.3(PKD1):c.11973G>A (p.Ala3991=)
|
|
|
NM_001009944.3(PKD1):c.11973_11974insA (p.Ala3992fs)
|
|
|
NM_001009944.3(PKD1):c.11973_11980dup (p.Leu3994fs)
|
|
|
NM_001009944.3(PKD1):c.11976_11983dup (p.Leu3995fs)
|
|
|
NM_001009944.3(PKD1):c.1197C>T (p.Ala399=)
|
rs1402003156
|
|
NM_001009944.3(PKD1):c.11984dup (p.Phe3996fs)
|
rs2091483332
|
|
NM_001009944.3(PKD1):c.11986_12000del (p.Phe3996_Val4000del)
|
rs1567148933
|
|
NM_001009944.3(PKD1):c.11987_11988insA (p.Phe3996fs)
|
|
|
NM_001009944.3(PKD1):c.11988C>T (p.Phe3996=)
|
|
|
NM_001009944.3(PKD1):c.11988_11996del (p.Phe3996_Leu3998del)
|
rs2544596360
|
|
NM_001009944.3(PKD1):c.11989del (p.Leu3997fs)
|
rs2544596466
|
|
NM_001009944.3(PKD1):c.1198C>G (p.Arg400Gly)
|
rs774453006
|
|
NM_001009944.3(PKD1):c.11995_11996dup (p.Leu3999fs)
|
rs2544596335
|
|
NM_001009944.3(PKD1):c.11996dup (p.Leu3999fs)
|
|
|
NM_001009944.3(PKD1):c.1199G>A (p.Arg400Gln)
|
|
|
NM_001009944.3(PKD1):c.1199G>T (p.Arg400Leu)
|
|
|
NM_001009944.3(PKD1):c.1199del (p.Arg400fs)
|
rs2092665134
|
|
NM_001009944.3(PKD1):c.12000C>G (p.Val4000=)
|
rs1555445055
|
|
NM_001009944.3(PKD1):c.12003+13C>T
|
|
|
NM_001009944.3(PKD1):c.12003+14_12003+33del
|
rs1567148835
|
|
NM_001009944.3(PKD1):c.12003+1G>C
|
|
|
NM_001009944.3(PKD1):c.12003+1G>T
|
|
|
NM_001009944.3(PKD1):c.12003+5G>T
|
rs1596476034
|
|
NM_001009944.3(PKD1):c.12003+7G>A
|
rs1318886496
|
|
NM_001009944.3(PKD1):c.12004-11C>T
|
|
|
NM_001009944.3(PKD1):c.12004-1G>A
|
rs2544594493
|
|
NM_001009944.3(PKD1):c.12004-1G>C
|
rs2544594493
|
|
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.12004-36C>G
|
rs376170375
|
|
NM_001009944.3(PKD1):c.12004-3C>T
|
|
|
NM_001009944.3(PKD1):c.12004-7_12012dup
|
rs1596475487
|
|
NM_001009944.3(PKD1):c.12007del (p.Ala4003fs)
|
rs2091475296
|
|
NM_001009944.3(PKD1):c.12008C>T (p.Ala4003Val)
|
|
|
NM_001009944.3(PKD1):c.1201+1G>A
|
rs1596588978
|
|
NM_001009944.3(PKD1):c.1201+1G>C
|
|
|
NM_001009944.3(PKD1):c.1201+5G>A
|
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.12011A>G (p.Gln4004Arg)
|
|
|
NM_001009944.3(PKD1):c.12019C>A (p.Arg4007Ser)
|
rs767826564
|
|
NM_001009944.3(PKD1):c.1202-10C>A
|
rs529554291
|
|
NM_001009944.3(PKD1):c.1202-10C>G
|
|
|
NM_001009944.3(PKD1):c.1202-11C>G
|
|
|
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.1202-2_1202del
|
|
|
NM_001009944.3(PKD1):c.1202-3C>A
|
rs766317718
|
|
NM_001009944.3(PKD1):c.1202-9G>A
|
rs1596588606
|
|
NM_001009944.3(PKD1):c.12020G>A (p.Arg4007His)
|
|
|
NM_001009944.3(PKD1):c.12022T>C (p.Phe4008Leu)
|
|
|
NM_001009944.3(PKD1):c.12025G>C (p.Val4009Leu)
|
|
|
NM_001009944.3(PKD1):c.12027G>A (p.Val4009=)
|
rs770344022
|
|
NM_001009944.3(PKD1):c.12029G>A (p.Arg4010His)
|
rs1247532552
|
|
NM_001009944.3(PKD1):c.12029G>T (p.Arg4010Leu)
|
|
|
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)
|
rs1555444985
|
|
NM_001009944.3(PKD1):c.12034T>C (p.Trp4012Arg)
|
|
|
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.12037T>C (p.Ser4013Pro)
|
rs1555444981
|
|
NM_001009944.3(PKD1):c.12039_12040insAC (p.Val4014fs)
|
rs2091472604
|
|
NM_001009944.3(PKD1):c.1203G>A (p.Ala401=)
|
|
|
NM_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs)
|
rs1596475245
|
|
NM_001009944.3(PKD1):c.12047G>C (p.Gly4016Ala)
|
|
|
NM_001009944.3(PKD1):c.12048C>T (p.Gly4016=)
|
rs756122519
|
|
NM_001009944.3(PKD1):c.12053C>T (p.Thr4018Ile)
|
|
|
NM_001009944.3(PKD1):c.12054_12055del (p.Leu4019fs)
|
rs2544593424
|
|
NM_001009944.3(PKD1):c.12056_12058del (p.Leu4019del)
|
|
|
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
|
rs2544593252
|
|
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)
|
rs764431330
|
|
NM_001009944.3(PKD1):c.12062G>A (p.Arg4021Gln)
|
rs1487111123
|
|
NM_001009944.3(PKD1):c.12065C>T (p.Ala4022Val)
|
|
|
NM_001009944.3(PKD1):c.12067C>G (p.Leu4023Val)
|
rs746392681
|
|
NM_001009944.3(PKD1):c.12068T>G (p.Leu4023Arg)
|
rs2151684704
|
|
NM_001009944.3(PKD1):c.12068dup (p.Pro4024fs)
|
rs2544593076
|
|
NM_001009944.3(PKD1):c.1206_1207del (p.His403fs)
|
rs1567216675
|
|
NM_001009944.3(PKD1):c.12070C>T (p.Pro4024Ser)
|
rs771494407
|
|
NM_001009944.3(PKD1):c.12078C>T (p.Leu4026=)
|
rs562488184
|
|
NM_001009944.3(PKD1):c.12078_12080del (p.Leu4027del)
|
|
|
NM_001009944.3(PKD1):c.12085G>A (p.Val4029Ile)
|
|
|
NM_001009944.3(PKD1):c.12085dup (p.Val4029fs)
|
rs2151684548
|
|
NM_001009944.3(PKD1):c.12095G>A (p.Gly4032Asp)
|
rs142768096
|
|
NM_001009944.3(PKD1):c.12095G>T (p.Gly4032Val)
|
rs142768096
|
|
NM_001009944.3(PKD1):c.12097C>G (p.Leu4033Val)
|
rs771603537
|
|
NM_001009944.3(PKD1):c.12099G>A (p.Leu4033=)
|
rs761446686
|
|
NM_001009944.3(PKD1):c.12100del (p.Val4034fs)
|
rs2544592433
|
|
NM_001009944.3(PKD1):c.12105G>A (p.Val4035=)
|
|
|
NM_001009944.3(PKD1):c.12119A>G (p.Tyr4040Cys)
|
rs757297994
|
|
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.12131C>T (p.Ala4044Val)
|
rs1242117311
|
|
NM_001009944.3(PKD1):c.12132C>T (p.Ala4044=)
|
rs1804177
|
|
NM_001009944.3(PKD1):c.12136C>G (p.Leu4046Val)
|
|
|
NM_001009944.3(PKD1):c.12138+14C>T
|
|
|
NM_001009944.3(PKD1):c.12138+1G>C
|
rs2151684070
|
|
NM_001009944.3(PKD1):c.12138+22del
|
rs199701927
|
|
NM_001009944.3(PKD1):c.12138+2T>A
|
|
|
NM_001009944.3(PKD1):c.12138+5G>A
|
|
|
NM_001009944.3(PKD1):c.12138+5G>C
|
rs2544591577
|
|
NM_001009944.3(PKD1):c.12139-11C>T
|
|
|
NM_001009944.3(PKD1):c.12139-12C>T
|
|
|
NM_001009944.3(PKD1):c.12139-1G>A
|
|
|
NM_001009944.3(PKD1):c.12139-1G>T
|
rs1596474257
|
|
NM_001009944.3(PKD1):c.12139-23C>A
|
rs140765983
|
|
NM_001009944.3(PKD1):c.12139-2A>C
|
rs2091453268
|
|
NM_001009944.3(PKD1):c.12139-3C>G
|
rs746284946
|
|
NM_001009944.3(PKD1):c.12139-8C>T
|
|
|
NM_001009944.3(PKD1):c.12143_12144insTT (p.Ser4049fs)
|
rs2544589581
|
|
NM_001009944.3(PKD1):c.12144_12145del (p.Ser4049fs)
|
rs2544589539
|
|
NM_001009944.3(PKD1):c.12148del (p.Ser4050fs)
|
|
|
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe)
|
rs186160250
|
|
NM_001009944.3(PKD1):c.12155T>A (p.Val4052Glu)
|
|
|
NM_001009944.3(PKD1):c.12155_12156del (p.Val4052fs)
|
|
|
NM_001009944.3(PKD1):c.12162C>T (p.Ser4054=)
|
rs143802974
|
|
NM_001009944.3(PKD1):c.12162_12165del (p.Leu4055fs)
|
|
|
NM_001009944.3(PKD1):c.12164T>C (p.Leu4055Pro)
|
|
|
NM_001009944.3(PKD1):c.12164dup (p.Trp4056fs)
|
|
|
NM_001009944.3(PKD1):c.12165C>T (p.Leu4055=)
|
rs375183934
|
|
NM_001009944.3(PKD1):c.12165del (p.Trp4056fs)
|
rs1596474136
|
|
NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs)
|
rs1596474115
|
|
NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter)
|
rs2151682538
|
|
NM_001009944.3(PKD1):c.12168G>A (p.Trp4056Ter)
|
|
|
NM_001009944.3(PKD1):c.12173T>G (p.Val4058Gly)
|
rs80360485
|
|
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)
|
rs2544876485
|
|
NM_001009944.3(PKD1):c.12180G>C (p.Gln4060His)
|
rs747465702
|
|
NM_001009944.3(PKD1):c.12181del (p.Ala4061fs)
|
|
|
NM_001009944.3(PKD1):c.12184_12185del (p.Leu4062fs)
|
|
|
NM_001009944.3(PKD1):c.12198C>A (p.Cys4066Ter)
|
|
|
NM_001009944.3(PKD1):c.1219C>G (p.Pro407Ala)
|
|
|
NM_001009944.3(PKD1):c.121C>T (p.Pro41Ser)
|
|
|
NM_001009944.3(PKD1):c.12200C>A (p.Pro4067His)
|
|
|
NM_001009944.3(PKD1):c.12200C>T (p.Pro4067Leu)
|
|
|
NM_001009944.3(PKD1):c.12205A>G (p.Thr4069Ala)
|
rs765414452
|
|
NM_001009944.3(PKD1):c.12206C>T (p.Thr4069Ile)
|
rs1335991596
|
|
NM_001009944.3(PKD1):c.12209G>A (p.Gly4070Glu)
|
|
|
NM_001009944.3(PKD1):c.12211C>T (p.Leu4071Phe)
|
|
|
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs)
|
rs2544588372
|
|
NM_001009944.3(PKD1):c.12217_12221del (p.Thr4073fs)
|
rs1567146946
|
|
NM_001009944.3(PKD1):c.12218C>G (p.Thr4073Ser)
|
|
|
NM_001009944.3(PKD1):c.12220_12221del (p.Leu4074fs)
|
|
|
NM_001009944.3(PKD1):c.12221dup (p.Cys4075fs)
|
|
|
NM_001009944.3(PKD1):c.12229G>T (p.Ala4077Ser)
|
|
|
NM_001009944.3(PKD1):c.12230C>T (p.Ala4077Val)
|
rs779478596
|
|
NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs)
|
rs1555444715
|
|
NM_001009944.3(PKD1):c.12232del (p.Glu4078fs)
|
rs2091446343
|
|
NM_001009944.3(PKD1):c.12237C>G (p.Ser4079=)
|
rs372534935
|
|
NM_001009944.3(PKD1):c.12237C>T (p.Ser4079=)
|
rs372534935
|
|
NM_001009944.3(PKD1):c.12237dup (p.Trp4080fs)
|
|
|
NM_001009944.3(PKD1):c.12239G>A (p.Trp4080Ter)
|
|
|
NM_001009944.3(PKD1):c.12241C>T (p.His4081Tyr)
|
|
|
NM_001009944.3(PKD1):c.12244_12245del (p.Leu4082fs)
|
rs2544587726
|
|
NM_001009944.3(PKD1):c.12246_12247del (p.Ser4083fs)
|
|
|
NM_001009944.3(PKD1):c.12248C>T (p.Ser4083Leu)
|
rs1406636973
|
|
NM_001009944.3(PKD1):c.12252C>T (p.Pro4084=)
|
|
|
NM_001009944.3(PKD1):c.12252_12253del (p.Leu4085fs)
|
|
|
NM_001009944.3(PKD1):c.12261T>A (p.Cys4087Ter)
|
rs199476097
|
|
NM_001009944.3(PKD1):c.12262G>T (p.Val4088Leu)
|
|
|
NM_001009944.3(PKD1):c.12267del (p.Leu4090fs)
|
rs2544587268
|
|
NM_001009944.3(PKD1):c.12270C>T (p.Leu4090=)
|
|
|
NM_001009944.3(PKD1):c.12273G>A (p.Trp4091Ter)
|
|
|
NM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs)
|
rs1555444648
|
|
NM_001009944.3(PKD1):c.12287G>A (p.Trp4096Ter)
|
|
|
NM_001009944.3(PKD1):c.12290dup (p.Ala4098fs)
|
|
|
NM_001009944.3(PKD1):c.12297A>G (p.Leu4099=)
|
rs1366352226
|
|
NM_001009944.3(PKD1):c.12298C>T (p.Arg4100Trp)
|
|
|
NM_001009944.3(PKD1):c.12301dup (p.Leu4101fs)
|
|
|
NM_001009944.3(PKD1):c.12305_12324del (p.Gly4102fs)
|
|
|
NM_001009944.3(PKD1):c.12307del (p.Ala4103fs)
|
rs2091442608
|
|
NM_001009944.3(PKD1):c.12307dup (p.Ala4103fs)
|
|
|
NM_001009944.3(PKD1):c.12308C>T (p.Ala4103Val)
|
rs746646395
|
|
NM_001009944.3(PKD1):c.12308del (p.Ala4103fs)
|
|
|
NM_001009944.3(PKD1):c.1230G>A (p.Thr410=)
|
|
|
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)
|
rs1060499718
|
|
NM_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs)
|
rs1555444602
|
|
NM_001009944.3(PKD1):c.12310del (p.Val4104fs)
|
|
|
NM_001009944.3(PKD1):c.12311_12320dup (p.Trp4108fs)
|
|
|
NM_001009944.3(PKD1):c.12313A>C (p.Ile4105Leu)
|
rs536724092
|
|
NM_001009944.3(PKD1):c.12313A>G (p.Ile4105Val)
|
|
|
NM_001009944.3(PKD1):c.12316C>G (p.Leu4106Val)
|
rs765313088
|
|
NM_001009944.3(PKD1):c.12316C>T (p.Leu4106Phe)
|
|
|
NM_001009944.3(PKD1):c.12319C>T (p.Arg4107Cys)
|
|
|
NM_001009944.3(PKD1):c.12323G>A (p.Trp4108Ter)
|
rs2544586222
|
|
NM_001009944.3(PKD1):c.12326G>A (p.Arg4109His)
|
|
|
NM_001009944.3(PKD1):c.12326G>T (p.Arg4109Leu)
|
rs1263418410
|
|
NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs)
|
rs2091440547
|
|
NM_001009944.3(PKD1):c.12329A>T (p.Tyr4110Phe)
|
|
|
NM_001009944.3(PKD1):c.1232_1251dup (p.His418fs)
|
rs2092661595
|
|
NM_001009944.3(PKD1):c.12331C>T (p.His4111Tyr)
|
rs1277822612
|
|
NM_001009944.3(PKD1):c.12332A>G (p.His4111Arg)
|
|
|
NM_001009944.3(PKD1):c.12332_12336del (p.His4111fs)
|
|
|
NM_001009944.3(PKD1):c.12334G>C (p.Ala4112Pro)
|
rs762207724
|
|
NM_001009944.3(PKD1):c.12334_12335insGG (p.Ala4112fs)
|
rs2522733776
|
|
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs)
|
rs2091440383
|
|
NM_001009944.3(PKD1):c.12337T>C (p.Leu4113=)
|
|
|
NM_001009944.3(PKD1):c.12340C>T (p.Arg4114Cys)
|
|
|
NM_001009944.3(PKD1):c.12344dup (p.Glu4116fs)
|
rs1596473434
|
|
NM_001009944.3(PKD1):c.12348del (p.Glu4116fs)
|
rs1596473420
|
|
NM_001009944.3(PKD1):c.12354C>A (p.Tyr4118Ter)
|
rs1188292999
|
|
NM_001009944.3(PKD1):c.12357del (p.Pro4120fs)
|
|
|
NM_001009944.3(PKD1):c.12359C>T (p.Pro4120Leu)
|
|
|
NM_001009944.3(PKD1):c.12365G>A (p.Trp4122Ter)
|
rs2091438383
|
|
NM_001009944.3(PKD1):c.12369G>A (p.Glu4123=)
|
|
|
NM_001009944.3(PKD1):c.12369G>T (p.Glu4123Asp)
|
|
|
NM_001009944.3(PKD1):c.12370C>A (p.Pro4124Thr)
|
|
|
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)
|
rs2091437893
|
|
NM_001009944.3(PKD1):c.12381C>A (p.Tyr4127Ter)
|
rs756212622
|
|
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter)
|
rs756212622
|
|
NM_001009944.3(PKD1):c.12382G>A (p.Glu4128Lys)
|
rs1596473289
|
|
NM_001009944.3(PKD1):c.12382G>T (p.Glu4128Ter)
|
rs1596473289
|
|
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.12386TGG[1] (p.Val4130del)
|
rs2544585102
|
|
NM_001009944.3(PKD1):c.12387G>C (p.Met4129Ile)
|
|
|
NM_001009944.3(PKD1):c.12389T>C (p.Val4130Ala)
|
|
|
NM_001009944.3(PKD1):c.12390_12393del (p.Glu4131fs)
|
|
|
NM_001009944.3(PKD1):c.12391_12392delinsTT (p.Glu4131Leu)
|
|
|
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)
|
rs1555444468
|
|
NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)
|
|
|
NM_001009944.3(PKD1):c.12396G>C (p.Leu4132Phe)
|
|
|
NM_001009944.3(PKD1):c.123_129del (p.Gly44fs)
|
rs2544960411
|
|
NM_001009944.3(PKD1):c.123_129dup (p.Gly44fs)
|
|
|
NM_001009944.3(PKD1):c.12400del (p.Leu4134fs)
|
|
|
NM_001009944.3(PKD1):c.12402G>A (p.Leu4134=)
|
rs1596473212
|
|
NM_001009944.3(PKD1):c.12403dup (p.Arg4135fs)
|
rs2091435565
|
|
NM_001009944.3(PKD1):c.12404G>T (p.Arg4135Leu)
|
rs747807172
|
|
NM_001009944.3(PKD1):c.12406A>C (p.Arg4136=)
|
|
|
NM_001009944.3(PKD1):c.12406A>T (p.Arg4136Trp)
|
rs2544584787
|
|
NM_001009944.3(PKD1):c.12407G>A (p.Arg4136Lys)
|
rs768391524
|
|
NM_001009944.3(PKD1):c.12407G>C (p.Arg4136Thr)
|
rs768391524
|
|
NM_001009944.3(PKD1):c.12407_12415dup (p.Arg4138_Leu4139insArgLeuArg)
|
rs2544584568
|
|
NM_001009944.3(PKD1):c.12410T>C (p.Leu4137Pro)
|
|
|
NM_001009944.3(PKD1):c.12410T>G (p.Leu4137Arg)
|
|
|
NM_001009944.3(PKD1):c.12412C>T (p.Arg4138Cys)
|
|
|
NM_001009944.3(PKD1):c.12416_12417delinsCT (p.Leu4139Pro)
|
|
|
NM_001009944.3(PKD1):c.12418_12429del (p.Trp4140_Leu4143del)
|
rs2544584336
|
|
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.12431G>C (p.Ser4144Thr)
|
|
|
NM_001009944.3(PKD1):c.12439A>G (p.Lys4147Glu)
|
rs2544584169
|
|
NM_001009944.3(PKD1):c.12442G>C (p.Glu4148Gln)
|
|
|
NM_001009944.3(PKD1):c.12442dup (p.Glu4148fs)
|
|
|
NM_001009944.3(PKD1):c.12444G>C (p.Glu4148Asp)
|
rs1567145638
|
|
NM_001009944.3(PKD1):c.12445-5_12451dup
|
|
|
NM_001009944.3(PKD1):c.12448C>G (p.Arg4150Gly)
|
|
|
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.12455A>C (p.Lys4152Thr)
|
|
|
NM_001009944.3(PKD1):c.12458T>G (p.Val4153Gly)
|
rs2151678778
|
|
NM_001009944.3(PKD1):c.12460C>A (p.Arg4154Ser)
|
|
|
NM_001009944.3(PKD1):c.12463T>C (p.Phe4155Leu)
|
|
|
NM_001009944.3(PKD1):c.12464T>A (p.Phe4155Tyr)
|
rs2544581051
|
|
NM_001009944.3(PKD1):c.12464T>C (p.Phe4155Ser)
|
rs2544581051
|
|
NM_001009944.3(PKD1):c.12464T>G (p.Phe4155Cys)
|
|
|
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
|
rs2091413514
|
|
NM_001009944.3(PKD1):c.12475G>T (p.Glu4159Ter)
|
|
|
NM_001009944.3(PKD1):c.12478C>T (p.Pro4160Ser)
|
|
|
NM_001009944.3(PKD1):c.12479C>G (p.Pro4160Arg)
|
|
|
NM_001009944.3(PKD1):c.1247A>T (p.Asn416Ile)
|
rs2544876338
|
|
NM_001009944.3(PKD1):c.12485C>T (p.Pro4162Leu)
|
|
|
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
|
|
NM_001009944.3(PKD1):c.12489dup (p.Arg4164fs)
|
|
|
NM_001009944.3(PKD1):c.12490del (p.Arg4164fs)
|
rs1596472276
|
|
NM_001009944.3(PKD1):c.12492C>T (p.Arg4164=)
|
rs536381522
|
|
NM_001009944.3(PKD1):c.12497_12507del (p.Ser4165_Ser4166insTer)
|
rs2544580431
|
|
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs)
|
rs1555444249
|
|
NM_001009944.3(PKD1):c.1249G>A (p.Gly417Arg)
|
|
|
NM_001009944.3(PKD1):c.12501G>A (p.Arg4167=)
|
|
|
NM_001009944.3(PKD1):c.12506C>T (p.Ser4169Phe)
|
rs2544580443
|
|
NM_001009944.3(PKD1):c.12507del (p.Lys4170fs)
|
rs2091410164
|
|
NM_001009944.3(PKD1):c.12509A>G (p.Lys4170Arg)
|
|
|
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)
|
rs1555444225
|
|
NM_001009944.3(PKD1):c.12517C>T (p.Pro4173Ser)
|
rs747648573
|
|
NM_001009944.3(PKD1):c.1251del (p.His418fs)
|
|
|
NM_001009944.3(PKD1):c.12525G>C (p.Val4175=)
|
|
|
NM_001009944.3(PKD1):c.12530_12531insGGG (p.Pro4177_Pro4178insGly)
|
|
|
NM_001009944.3(PKD1):c.12531del (p.Ser4179fs)
|
|
|
NM_001009944.3(PKD1):c.1253A>C (p.His418Pro)
|
|
|
NM_001009944.3(PKD1):c.1254dup (p.Cys419fs)
|
|
|
NM_001009944.3(PKD1):c.12554C>A (p.Ser4185Ter)
|
|
|
NM_001009944.3(PKD1):c.12554C>T (p.Ser4185Leu)
|
|
|
NM_001009944.3(PKD1):c.12557A>C (p.His4186Pro)
|
|
|
NM_001009944.3(PKD1):c.12557A>G (p.His4186Arg)
|
|
|
NM_001009944.3(PKD1):c.12557_12558del (p.His4186fs)
|
|
|
NM_001009944.3(PKD1):c.12558C>G (p.His4186Gln)
|
|
|
NM_001009944.3(PKD1):c.12565_12568delinsTCCA (p.Thr4189_Ser4190delinsSerThr)
|
|
|
NM_001009944.3(PKD1):c.12566C>T (p.Thr4189Ile)
|
|
|
NM_001009944.3(PKD1):c.12568T>A (p.Ser4190Thr)
|
|
|
NM_001009944.3(PKD1):c.1256G>C (p.Cys419Ser)
|
|
|
NM_001009944.3(PKD1):c.1256_1258del (p.Cys419del)
|
rs2544876293
|
|
NM_001009944.3(PKD1):c.12570dup (p.Ser4191fs)
|
rs2544579371
|
|
NM_001009944.3(PKD1):c.12574A>C (p.Ser4192Arg)
|
|
|
NM_001009944.3(PKD1):c.12577C>T (p.Gln4193Ter)
|
rs2544579185
|
|
NM_001009944.3(PKD1):c.12581dup (p.Asp4195fs)
|
|
|
NM_001009944.3(PKD1):c.12586_12589del (p.Asp4195_Gly4196insTer)
|
|
|
NM_001009944.3(PKD1):c.12588_12589insATGAGCGTGAGC (p.Gly4196_Leu4197insMetSerValSer)
|
|
|
NM_001009944.3(PKD1):c.1258T>C (p.Tyr420His)
|
|
|
NM_001009944.3(PKD1):c.12590T>C (p.Leu4197Pro)
|
|
|
NM_001009944.3(PKD1):c.12591_12592insGGCCG (p.Ser4198fs)
|
|
|
NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs)
|
rs1567144266
|
|
NM_001009944.3(PKD1):c.12596_12600dup (p.Leu4201Ter)
|
|
|
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)
|
rs2544578714
|
|
NM_001009944.3(PKD1):c.12596dup (p.Ser4200fs)
|
|
|
NM_001009944.3(PKD1):c.1259A>G (p.Tyr420Cys)
|
rs755878230
|
|
NM_001009944.3(PKD1):c.12602T>C (p.Leu4201Pro)
|
|
|
NM_001009944.3(PKD1):c.12602_12635del (p.Leu4201fs)
|
rs2544578238
|
|
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs)
|
rs2091400717
|
|
NM_001009944.3(PKD1):c.12605del (p.Gly4202fs)
|
rs2544578863
|
|
NM_001009944.3(PKD1):c.12607C>T (p.Arg4203Trp)
|
|
|
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
|
rs2544578227
|
|
NM_001009944.3(PKD1):c.12609del (p.Leu4204fs)
|
|
|
NM_001009944.3(PKD1):c.1260C>G (p.Tyr420Ter)
|
rs2092661409
|
|
NM_001009944.3(PKD1):c.12615dup (p.Thr4206fs)
|
rs2544578657
|
|
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)
|
rs1567216536
|
|
NM_001009944.3(PKD1):c.12624T>A (p.Cys4208Ter)
|
rs2544578450
|
|
NM_001009944.3(PKD1):c.12624_12625dup (p.Glu4209fs)
|
|
|
NM_001009944.3(PKD1):c.12628C>T (p.Pro4210Ser)
|
|
|
NM_001009944.3(PKD1):c.12629C>T (p.Pro4210Leu)
|
|
|
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=)
|
rs7203729
|
|
NM_001009944.3(PKD1):c.12630delinsCGGGCCGGCTGGGGACAAGGTGTGAGCCC (p.Pro4210_Glu4211insGlyProAlaGlyAspLysValTer)
|
|
|
NM_001009944.3(PKD1):c.12632A>G (p.Glu4211Gly)
|
|
|
NM_001009944.3(PKD1):c.12633del (p.Glu4211fs)
|
rs2091400232
|
|
NM_001009944.3(PKD1):c.12641G>A (p.Arg4214His)
|
|
|
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe)
|
rs757068311
|
|
NM_001009944.3(PKD1):c.12646C>T (p.Gln4216Ter)
|
|
|
NM_001009944.3(PKD1):c.12652G>A (p.Val4218Met)
|
|
|
NM_001009944.3(PKD1):c.12656dup (p.Glu4220fs)
|
|
|
NM_001009944.3(PKD1):c.12657_12658delinsAT (p.Phe4219_Glu4220delinsLeuTer)
|
|
|
NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs)
|
rs2151676915
|
|
NM_001009944.3(PKD1):c.12658G>A (p.Glu4220Lys)
|
|
|
NM_001009944.3(PKD1):c.12658G>T (p.Glu4220Ter)
|
rs2091397048
|
|
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.12665T>C (p.Leu4222Pro)
|
rs2544577468
|
|
NM_001009944.3(PKD1):c.12668T>C (p.Leu4223Pro)
|
|
|
NM_001009944.3(PKD1):c.12671C>A (p.Thr4224Asn)
|
|
|
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter)
|
rs2091395464
|
|
NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del)
|
rs1596471581
|
|
NM_001009944.3(PKD1):c.12679G>C (p.Asp4227His)
|
rs2544576994
|
|
NM_001009944.3(PKD1):c.12679G>T (p.Asp4227Tyr)
|
rs2544576994
|
|
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)
|
rs199476095
|
|
NM_001009944.3(PKD1):c.12682del (p.Arg4228fs)
|
|
|
NM_001009944.3(PKD1):c.12682dup (p.Arg4228fs)
|
rs2544576934
|
|
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro)
|
rs1064797205
|
|
NM_001009944.3(PKD1):c.12683G>T (p.Arg4228Leu)
|
rs1064797205
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12692A>G (p.Gln4231Arg)
|
rs2544576445
|
|
NM_001009944.3(PKD1):c.12701_12702del (p.Glu4234fs)
|
rs1596471547
|
|
NM_001009944.3(PKD1):c.12703G>A (p.Asp4235Asn)
|
|
|
NM_001009944.3(PKD1):c.12707T>G (p.Val4236Gly)
|
|
|
NM_001009944.3(PKD1):c.12709T>C (p.Tyr4237His)
|
rs2091392697
|
|
NM_001009944.3(PKD1):c.12711C>G (p.Tyr4237Ter)
|
rs906771712
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.12714G>A (p.Gln4238=)
|
rs755048734
|
|
NM_001009944.3(PKD1):c.12714G>T (p.Gln4238His)
|
|
|
NM_001009944.3(PKD1):c.12716_12724del (p.Leu4239_Gln4241del)
|
|
|
NM_001009944.3(PKD1):c.12718G>T (p.Glu4240Ter)
|
rs1567143705
|
|
NM_001009944.3(PKD1):c.12720G>C (p.Glu4240Asp)
|
rs2544575223
|
|
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.12725_12735dup (p.Leu4246fs)
|
rs2151675632
|
|
NM_001009944.3(PKD1):c.12725_12756del (p.Gln4242fs)
|
|
|
NM_001009944.3(PKD1):c.12728_12756del (p.Leu4243fs)
|
|
|
NM_001009944.3(PKD1):c.12730C>T (p.His4244Tyr)
|
rs760917525
|
|
NM_001009944.3(PKD1):c.12739C>T (p.Gln4247Ter)
|
rs2091390332
|
|
NM_001009944.3(PKD1):c.12746_12803del (p.Arg4249fs)
|
|
|
NM_001009944.3(PKD1):c.12748A>T (p.Arg4250Trp)
|
rs2091389295
|
|
NM_001009944.3(PKD1):c.12757C>T (p.Arg4253Trp)
|
|
|
NM_001009944.3(PKD1):c.12767C>T (p.Ala4256Val)
|
|
|
NM_001009944.3(PKD1):c.1276A>T (p.Lys426Ter)
|
|
|
NM_001009944.3(PKD1):c.12778C>A (p.Arg4260Ser)
|
rs755897784
|
|
NM_001009944.3(PKD1):c.12779G>A (p.Arg4260His)
|
|
|
NM_001009944.3(PKD1):c.12779G>C (p.Arg4260Pro)
|
|
|
NM_001009944.3(PKD1):c.1277dup (p.Ala427fs)
|
|
|
NM_001009944.3(PKD1):c.12781G>A (p.Gly4261Ser)
|
rs2091385750
|
|
NM_001009944.3(PKD1):c.12784C>T (p.Pro4262Ser)
|
|
|
NM_001009944.3(PKD1):c.1278GGC[1] (p.Ala428del)
|
rs724159824
|
|
NM_001009944.3(PKD1):c.12790C>T (p.Pro4264Ser)
|
|
|
NM_001009944.3(PKD1):c.12791C>T (p.Pro4264Leu)
|
|
|
NM_001009944.3(PKD1):c.12792G>A (p.Pro4264=)
|
|
|
NM_001009944.3(PKD1):c.12794G>A (p.Gly4265Asp)
|
|
|
NM_001009944.3(PKD1):c.12794del (p.Gly4265fs)
|
|
|
NM_001009944.3(PKD1):c.12805G>A (p.Ala4269Thr)
|
|
|
NM_001009944.3(PKD1):c.12806C>G (p.Ala4269Gly)
|
|
|
NM_001009944.3(PKD1):c.12806C>T (p.Ala4269Val)
|
|
|
NM_001009944.3(PKD1):c.1280C>T (p.Ala427Val)
|
|
|
NM_001009944.3(PKD1):c.12810G>A (p.Leu4270=)
|
|
|
NM_001009944.3(PKD1):c.12812C>T (p.Pro4271Leu)
|
|
|
NM_001009944.3(PKD1):c.12814_12826del (p.Ser4272fs)
|
|
|
NM_001009944.3(PKD1):c.12819C>T (p.Arg4273=)
|
rs2091381361
|
|
NM_001009944.3(PKD1):c.12824C>T (p.Ala4275Val)
|
rs1211572683
|
|
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln)
|
rs1188304476
|
|
NM_001009944.3(PKD1):c.12828G>A (p.Arg4276=)
|
|
|
NM_001009944.3(PKD1):c.1282_1296del (p.Ala428_Ala432del)
|
rs2544876125
|
|
NM_001009944.3(PKD1):c.12830C>A (p.Ala4277Asp)
|
|
|
NM_001009944.3(PKD1):c.12831C>T (p.Ala4277=)
|
|
|
NM_001009944.3(PKD1):c.12833G>A (p.Ser4278Asn)
|
|
|
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=)
|
rs375443308
|
|
NM_001009944.3(PKD1):c.12835C>T (p.Arg4279Trp)
|
|
|
NM_001009944.3(PKD1):c.12843G>A (p.Val4281=)
|
rs2091378699
|
|
NM_001009944.3(PKD1):c.12844G>T (p.Asp4282Tyr)
|
rs2544571392
|
|
NM_001009944.3(PKD1):c.12845A>C (p.Asp4282Ala)
|
|
|
NM_001009944.3(PKD1):c.12850G>A (p.Ala4284Thr)
|
|
|
NM_001009944.3(PKD1):c.12851C>T (p.Ala4284Val)
|
|
|
NM_001009944.3(PKD1):c.12855T>A (p.Thr4285=)
|
|
|
NM_001009944.3(PKD1):c.12859C>T (p.Pro4287Ser)
|
|
|
NM_001009944.3(PKD1):c.12867_12905dup (p.Ser4301_Ser4302insArgThrProLeuArgAlaLysAsnLysValHisProSer)
|
|
|
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu)
|
rs1567216472
|
|
NM_001009944.3(PKD1):c.12872C>T (p.Pro4291Leu)
|
|
|
NM_001009944.3(PKD1):c.12873_12874del (p.Leu4292fs)
|
rs2544570164
|
|
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)
|
rs777990224
|
|
NM_001009944.3(PKD1):c.12895C>T (p.His4299Tyr)
|
rs2544569532
|
|
NM_001009944.3(PKD1):c.12899C>T (p.Pro4300Leu)
|
rs1429123436
|
|
NM_001009944.3(PKD1):c.12905G>A (p.Ser4302Asn)
|
rs2544569189
|
|
NM_001009944.3(PKD1):c.12911A>G (p.Ter4304Trp)
|
|
|
NM_001009944.3(PKD1):c.12912G>C (p.Ter4304Tyr)
|
|
|
NM_001009944.3(PKD1):c.1291C>T (p.Gln431Ter)
|
rs2544876167
|
|
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.1297C>T (p.Gln433Ter)
|
rs2544876107
|
|
NM_001009944.3(PKD1):c.1303C>T (p.Gln435Ter)
|
rs2092660457
|
|
NM_001009944.3(PKD1):c.1306T>C (p.Cys436Arg)
|
rs1555458892
|
|
NM_001009944.3(PKD1):c.1307G>T (p.Cys436Phe)
|
rs2092660360
|
|
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs)
|
rs1555458891
|
|
NM_001009944.3(PKD1):c.1308T>A (p.Cys436Ter)
|
|
|
NM_001009944.3(PKD1):c.1309C>T (p.Gln437Ter)
|
rs2151822408
|
|
NM_001009944.3(PKD1):c.1312G>A (p.Ala438Thr)
|
|
|
NM_001009944.3(PKD1):c.1312dup (p.Ala438fs)
|
rs2544876023
|
|
NM_001009944.3(PKD1):c.1313C>T (p.Ala438Val)
|
|
|
NM_001009944.3(PKD1):c.1322_1339del (p.Gly441_Met446del)
|
|
|
NM_001009944.3(PKD1):c.1325C>T (p.Ala442Val)
|
rs1596588261
|
|
NM_001009944.3(PKD1):c.1326del (p.Ala443fs)
|
rs2151822381
|
|
NM_001009944.3(PKD1):c.1331T>C (p.Leu444Pro)
|
rs2544875911
|
|
NM_001009944.3(PKD1):c.1331T>G (p.Leu444Arg)
|
|
|
NM_001009944.3(PKD1):c.1334C>T (p.Ala445Val)
|
|
|
NM_001009944.3(PKD1):c.1347_1356delinsAC (p.Ser449fs)
|
rs1567216323
|
|
NM_001009944.3(PKD1):c.1349C>G (p.Pro450Arg)
|
|
|
NM_001009944.3(PKD1):c.1353dup (p.Val452fs)
|
rs2151822325
|
|
NM_001009944.3(PKD1):c.1355_1361del (p.Val452fs)
|
|
|
NM_001009944.3(PKD1):c.1357C>T (p.Gln453Ter)
|
|
|
NM_001009944.3(PKD1):c.1361G>C (p.Arg454Pro)
|
rs1244006755
|
|
NM_001009944.3(PKD1):c.1363T>A (p.Phe455Ile)
|
rs2151822302
|
|
NM_001009944.3(PKD1):c.1364T>C (p.Phe455Ser)
|
rs2544875788
|
|
NM_001009944.3(PKD1):c.1375C>A (p.Arg459=)
|
|
|
NM_001009944.3(PKD1):c.1379T>G (p.Val460Gly)
|
rs2092659177
|
|
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly)
|
rs1555458865
|
|
NM_001009944.3(PKD1):c.1385+12del
|
rs1357257296
|
|
NM_001009944.3(PKD1):c.1385+13del
|
rs2092658494
|
|
NM_001009944.3(PKD1):c.1385+1G>C
|
|
|
NM_001009944.3(PKD1):c.1385+1G>T
|
rs2544875657
|
|
NM_001009944.3(PKD1):c.1385+5C>T
|
rs886038368
|
|
NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys)
|
rs2092659023
|
|
NM_001009944.3(PKD1):c.1386-11C>G
|
|
|
NM_001009944.3(PKD1):c.1386-11C>T
|
|
|
NM_001009944.3(PKD1):c.1386-2A>G
|
rs2544872834
|
|
NM_001009944.3(PKD1):c.1386-3C>G
|
|
|
NM_001009944.3(PKD1):c.1386-7C>T
|
|
|
NM_001009944.3(PKD1):c.1388G>A (p.Ser463Asn)
|
|
|
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
|
|
|
NM_001009944.3(PKD1):c.1391del (p.Leu464fs)
|
rs2092649198
|
|
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)
|
rs2855341
|
|
NM_001009944.3(PKD1):c.1396G>C (p.Val466Leu)
|
|
|
NM_001009944.3(PKD1):c.1398_1403del (p.Trp467_Ile468del)
|
rs2151820984
|
|
NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs)
|
rs2544960791
|
|
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs)
|
rs1555462463
|
|
NM_001009944.3(PKD1):c.1400_1410del (p.Trp467fs)
|
rs1567215697
|
|
NM_001009944.3(PKD1):c.1401G>C (p.Trp467Cys)
|
|
|
NM_001009944.3(PKD1):c.1404C>G (p.Ile468Met)
|
rs755150845
|
|
NM_001009944.3(PKD1):c.1412C>T (p.Ser471Leu)
|
|
|
NM_001009944.3(PKD1):c.1413G>A (p.Ser471=)
|
|
|
NM_001009944.3(PKD1):c.1416T>A (p.Thr472=)
|
|
|
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.1423G>A (p.Gly475Arg)
|
|
|
NM_001009944.3(PKD1):c.1426G>A (p.Val476Met)
|
rs773817287
|
|
NM_001009944.3(PKD1):c.1426del (p.Val476fs)
|
rs2544872575
|
|
NM_001009944.3(PKD1):c.1429G>T (p.Glu477Ter)
|
rs1346411637
|
|
NM_001009944.3(PKD1):c.1430A>T (p.Glu477Val)
|
|
|
NM_001009944.3(PKD1):c.1437C>T (p.Gly479=)
|
|
|
NM_001009944.3(PKD1):c.1439C>T (p.Pro480Leu)
|
|
|
NM_001009944.3(PKD1):c.1439del (p.Pro480fs)
|
rs1567215590
|
|
NM_001009944.3(PKD1):c.1441G>T (p.Ala481Ser)
|
|
|
NM_001009944.3(PKD1):c.1442_1445dup (p.Gln483fs)
|
|
|
NM_001009944.3(PKD1):c.1446G>A (p.Pro482=)
|
rs759093325
|
|
NM_001009944.3(PKD1):c.1447C>T (p.Gln483Ter)
|
|
|
NM_001009944.3(PKD1):c.1451G>A (p.Gly484Asp)
|
|
|
NM_001009944.3(PKD1):c.1458dup (p.Phe487fs)
|
|
|
NM_001009944.3(PKD1):c.146T>A (p.Val49Asp)
|
|
|
NM_001009944.3(PKD1):c.146T>G (p.Val49Gly)
|
|
|
NM_001009944.3(PKD1):c.1488delinsTC (p.Gly498fs)
|
|
|
NM_001009944.3(PKD1):c.1491del (p.Glu499fs)
|
rs2092648005
|
|
NM_001009944.3(PKD1):c.1491dup (p.Gly498fs)
|
rs2092648005
|
|
NM_001009944.3(PKD1):c.149A>G (p.Asn50Ser)
|
|
|
NM_001009944.3(PKD1):c.1501C>T (p.His501Tyr)
|
rs2544872195
|
|
NM_001009944.3(PKD1):c.1505del (p.Pro502fs)
|
|
|
NM_001009944.3(PKD1):c.1516G>A (p.Glu506Lys)
|
|
|
NM_001009944.3(PKD1):c.151T>A (p.Cys51Ser)
|
rs2151858256
|
|
NM_001009944.3(PKD1):c.151T>C (p.Cys51Arg)
|
rs2151858256
|
|
NM_001009944.3(PKD1):c.151T>G (p.Cys51Gly)
|
rs2151858256
|
|
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)
|
rs58598099
|
|
NM_001009944.3(PKD1):c.1523G>T (p.Cys508Phe)
|
rs1057518001
|
|
NM_001009944.3(PKD1):c.1524C>A (p.Cys508Ter)
|
|
|
NM_001009944.3(PKD1):c.1525G>A (p.Val509Ile)
|
|
|
NM_001009944.3(PKD1):c.1528_1546del (p.Arg510fs)
|
|
|
NM_001009944.3(PKD1):c.1529G>A (p.Arg510Gln)
|
|
|
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro)
|
rs1293305047
|
|
NM_001009944.3(PKD1):c.1532T>G (p.Leu511Arg)
|
|
|
NM_001009944.3(PKD1):c.1538_1539delinsG (p.Pro513fs)
|
rs2544871993
|
|
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)
|
rs2544871950
|
|
NM_001009944.3(PKD1):c.1547G>A (p.Trp516Ter)
|
|
|
NM_001009944.3(PKD1):c.1548G>A (p.Trp516Ter)
|
rs2151820663
|
|
NM_001009944.3(PKD1):c.1548del (p.Trp516fs)
|
|
|
NM_001009944.3(PKD1):c.154T>C (p.Ser52Pro)
|
rs2544960233
|
|
NM_001009944.3(PKD1):c.1551dup (p.Asn518Ter)
|
|
|
NM_001009944.3(PKD1):c.1553A>T (p.Asn518Ile)
|
|
|
NM_001009944.3(PKD1):c.1555A>C (p.Thr519Pro)
|
rs1168124993
|
|
NM_001009944.3(PKD1):c.1558G>A (p.Asp520Asn)
|
rs1418847867
|
|
NM_001009944.3(PKD1):c.155C>A (p.Ser52Ter)
|
rs2092940490
|
|
NM_001009944.3(PKD1):c.155C>G (p.Ser52Trp)
|
rs2092940490
|
|
NM_001009944.3(PKD1):c.155C>T (p.Ser52Leu)
|
|
|
NM_001009944.3(PKD1):c.1561C>G (p.Leu521Val)
|
|
|
NM_001009944.3(PKD1):c.1564T>G (p.Cys522Gly)
|
rs2544871836
|
|
NM_001009944.3(PKD1):c.1564_1565del (p.Cys522fs)
|
|
|
NM_001009944.3(PKD1):c.1565G>A (p.Cys522Tyr)
|
|
|
NM_001009944.3(PKD1):c.1567T>C (p.Ser523Pro)
|
|
|
NM_001009944.3(PKD1):c.1568C>G (p.Ser523Ter)
|
|
|
NM_001009944.3(PKD1):c.1568C>T (p.Ser523Leu)
|
|
|
NM_001009944.3(PKD1):c.1574C>G (p.Pro525Arg)
|
|
|
NM_001009944.3(PKD1):c.1578C>G (p.His526Gln)
|
|
|
NM_001009944.3(PKD1):c.1580G>C (p.Ser527Thr)
|
|
|
NM_001009944.3(PKD1):c.1582T>G (p.Tyr528Asp)
|
|
|
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)
|
rs750798165
|
|
NM_001009944.3(PKD1):c.1584C>A (p.Tyr528Ter)
|
rs1401015526
|
|
NM_001009944.3(PKD1):c.1584del (p.Ser527_Tyr528insTer)
|
rs2527408768
|
|
NM_001009944.3(PKD1):c.1585G>A (p.Val529Ile)
|
|
|
NM_001009944.3(PKD1):c.1586T>A (p.Val529Asp)
|
|
|
NM_001009944.3(PKD1):c.1588_1592del (p.Cys530fs)
|
rs2544871731
|
|
NM_001009944.3(PKD1):c.1589G>A (p.Cys530Tyr)
|
rs2544871753
|
|
NM_001009944.3(PKD1):c.158G>C (p.Gly53Ala)
|
rs2544960223
|
|
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys)
|
rs1567215326
|
|
NM_001009944.3(PKD1):c.1594C>G (p.Leu532Val)
|
|
|
NM_001009944.3(PKD1):c.1595_1598dup (p.Gln533fs)
|
|
|
NM_001009944.3(PKD1):c.15_31del (p.Pro6fs)
|
|
|
NM_001009944.3(PKD1):c.1605A>G (p.Gly535=)
|
|
|
NM_001009944.3(PKD1):c.1606+18C>T
|
rs2151820473
|
|
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
|
rs2544871660
|
|
NM_001009944.3(PKD1):c.1606+5G>A
|
rs2092646077
|
|
NM_001009944.3(PKD1):c.1606+5G>T
|
|
|
NM_001009944.3(PKD1):c.1606+6C>T
|
|
|
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser)
|
rs1555458683
|
|
NM_001009944.3(PKD1):c.1607-1G>T
|
|
|
NM_001009944.3(PKD1):c.1607-2A>C
|
rs2544870219
|
|
NM_001009944.3(PKD1):c.1607-4C>T
|
|
|
NM_001009944.3(PKD1):c.160C>G (p.Arg54Gly)
|
|
|
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs)
|
rs3072277
|
|
NM_001009944.3(PKD1):c.160_166dup (p.Leu56fs)
|
|
|
NM_001009944.3(PKD1):c.1613T>G (p.Val538Gly)
|
|
|
NM_001009944.3(PKD1):c.1616A>G (p.Gln539Arg)
|
|
|
NM_001009944.3(PKD1):c.1616A>T (p.Gln539Leu)
|
|
|
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His)
|
rs1382845038
|
|
NM_001009944.3(PKD1):c.1620_1621del (p.Ala541fs)
|
|
|
NM_001009944.3(PKD1):c.1625A>C (p.Glu542Ala)
|
|
|
NM_001009944.3(PKD1):c.1628dup (p.Asn543fs)
|
rs2544870113
|
|
NM_001009944.3(PKD1):c.1630CTC[1] (p.Leu545del)
|
rs1596585121
|
|
NM_001009944.3(PKD1):c.1634T>A (p.Leu545His)
|
rs2092641277
|
|
NM_001009944.3(PKD1):c.1636G>A (p.Val546Met)
|
|
|
NM_001009944.3(PKD1):c.163G>C (p.Gly55Arg)
|
|
|
NM_001009944.3(PKD1):c.1640G>A (p.Gly547Glu)
|
|
|
NM_001009944.3(PKD1):c.1640del (p.Gly547fs)
|
|
|
NM_001009944.3(PKD1):c.1653_1654dup (p.Asp552fs)
|
rs2151819777
|
|
NM_001009944.3(PKD1):c.1654G>A (p.Asp552Asn)
|
|
|
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.165_171dup (p.Thr58fs)
|
|
|
NM_001009944.3(PKD1):c.165dup (p.Leu56fs)
|
|
|
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter)
|
rs2544869877
|
|
NM_001009944.3(PKD1):c.1662G>C (p.Gln554His)
|
|
|
NM_001009944.3(PKD1):c.1662_1678delinsCAG (p.Gln554fs)
|
|
|
NM_001009944.3(PKD1):c.1663G>T (p.Gly555Ter)
|
rs2092640827
|
|
NM_001009944.3(PKD1):c.1669_1670del (p.Leu557fs)
|
rs1397649778
|
|
NM_001009944.3(PKD1):c.1669dup (p.Leu557fs)
|
rs2092640687
|
|
NM_001009944.3(PKD1):c.1675C>G (p.Pro559Ala)
|
|
|
NM_001009944.3(PKD1):c.1676C>G (p.Pro559Arg)
|
|
|
NM_001009944.3(PKD1):c.1676C>T (p.Pro559Leu)
|
rs747424552
|
|
NM_001009944.3(PKD1):c.1681G>A (p.Ala561Thr)
|
|
|
NM_001009944.3(PKD1):c.1681del (p.Ala561fs)
|
|
|
NM_001009944.3(PKD1):c.1684C>T (p.Gln562Ter)
|
|
|
NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg)
|
rs1185676416
|
|
NM_001009944.3(PKD1):c.1687C>G (p.Gln563Glu)
|
|
|
NM_001009944.3(PKD1):c.1687C>T (p.Gln563Ter)
|
rs1064794207
|
|
NM_001009944.3(PKD1):c.1691_1692delinsTG (p.Asp564Val)
|
|
|
NM_001009944.3(PKD1):c.1699_1700del (p.Ala568fs)
|
rs2544869651
|
|
NM_001009944.3(PKD1):c.1700C>G (p.Ser567Ter)
|
rs765817015
|
|
NM_001009944.3(PKD1):c.1706C>T (p.Pro569Leu)
|
|
|
NM_001009944.3(PKD1):c.1710C>A (p.His570Gln)
|
rs367983387
|
|
NM_001009944.3(PKD1):c.171_174del (p.Thr58fs)
|
|
|
NM_001009944.3(PKD1):c.171_191del (p.Thr58_Arg64del)
|
|
|
NM_001009944.3(PKD1):c.1720G>T (p.Glu574Ter)
|
|
|
NM_001009944.3(PKD1):c.1722+1G>A
|
rs1567214706
|
|
NM_001009944.3(PKD1):c.1722+1G>T
|
rs1567214706
|
|
NM_001009944.3(PKD1):c.1722+2T>C
|
rs886041836
|
|
NM_001009944.3(PKD1):c.1722+6C>T
|
|
|
NM_001009944.3(PKD1):c.1723-1G>A
|
rs1596582948
|
|
NM_001009944.3(PKD1):c.1723-1G>C
|
rs1596582948
|
|
NM_001009944.3(PKD1):c.1723-2A>C
|
|
|
NM_001009944.3(PKD1):c.1723-2A>G
|
rs1567214052
|
|
NM_001009944.3(PKD1):c.1723-4C>G
|
|
|
NM_001009944.3(PKD1):c.1723-8C>T
|
rs1346125385
|
|
NM_001009944.3(PKD1):c.1729G>T (p.Val577Leu)
|
|
|
NM_001009944.3(PKD1):c.1732T>A (p.Phe578Ile)
|
|
|
NM_001009944.3(PKD1):c.1736C>G (p.Pro579Arg)
|
|
|
NM_001009944.3(PKD1):c.1736C>T (p.Pro579Leu)
|
|
|
NM_001009944.3(PKD1):c.173_193dup (p.Arg64_Ile65insThrLeuGlyProAlaLeuArg)
|
|
|
NM_001009944.3(PKD1):c.1756G>C (p.Glu586Gln)
|
|
|
NM_001009944.3(PKD1):c.1760C>T (p.Ala587Val)
|
rs2151818122
|
|
NM_001009944.3(PKD1):c.1768A>C (p.Thr590Pro)
|
|
|
NM_001009944.3(PKD1):c.1768_1769del (p.Thr590fs)
|
|
|
NM_001009944.3(PKD1):c.176_206del (p.Leu59fs)
|
rs2092939869
|
|
NM_001009944.3(PKD1):c.1771A>C (p.Thr591Pro)
|
rs2092629735
|
|
NM_001009944.3(PKD1):c.1772C>T (p.Thr591Met)
|
|
|
NM_001009944.3(PKD1):c.1772del (p.Thr591fs)
|
rs1567213901
|
|
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)
|
rs1596582702
|
|
NM_001009944.3(PKD1):c.1787C>A (p.Thr596Asn)
|
rs2544866152
|
|
NM_001009944.3(PKD1):c.1789C>T (p.Gln597Ter)
|
|
|
NM_001009944.3(PKD1):c.1792G>C (p.Glu598Gln)
|
|
|
NM_001009944.3(PKD1):c.1792_1809dup (p.Ala603_Gln604insGluLeuArgArgProAla)
|
rs2544866022
|
|
NM_001009944.3(PKD1):c.17C>G (p.Pro6Arg)
|
|
|
NM_001009944.3(PKD1):c.1802G>A (p.Arg601Gln)
|
|
|
NM_001009944.3(PKD1):c.1802G>C (p.Arg601Pro)
|
|
|
NM_001009944.3(PKD1):c.1807G>A (p.Ala603Thr)
|
|
|
NM_001009944.3(PKD1):c.1807G>C (p.Ala603Pro)
|
|
|
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter)
|
rs2092629130
|
|
NM_001009944.3(PKD1):c.1814T>G (p.Leu605Arg)
|
rs2544865989
|
|
NM_001009944.3(PKD1):c.1816C>G (p.Arg606Gly)
|
rs1256105528
|
|
NM_001009944.3(PKD1):c.1816C>T (p.Arg606Trp)
|
rs1256105528
|
|
NM_001009944.3(PKD1):c.1817G>C (p.Arg606Pro)
|
rs2092629034
|
|
NM_001009944.3(PKD1):c.1823A>G (p.Gln608Arg)
|
rs1596582588
|
|
NM_001009944.3(PKD1):c.1827G>A (p.Val609=)
|
rs905577227
|
|
NM_001009944.3(PKD1):c.1829A>G (p.Tyr610Cys)
|
|
|
NM_001009944.3(PKD1):c.1830C>G (p.Tyr610Ter)
|
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.1832G>A (p.Arg611Gln)
|
|
|
NM_001009944.3(PKD1):c.1842C>T (p.Ser614=)
|
|
|
NM_001009944.3(PKD1):c.1849+14TGGTGGG[2]
|
rs56173969
|
|
NM_001009944.3(PKD1):c.1849+19G>A
|
|
|
NM_001009944.3(PKD1):c.1849+1G>T
|
rs2092628618
|
|
NM_001009944.3(PKD1):c.1849+21_1849+34del
|
rs56173969
|
|
NM_001009944.3(PKD1):c.1849G>T (p.Gly617Trp)
|
|
|
NM_001009944.3(PKD1):c.1850-12C>G
|
|
|
NM_001009944.3(PKD1):c.1850-1G>A
|
rs2544861967
|
|
NM_001009944.3(PKD1):c.1853C>T (p.Thr618Ile)
|
|
|
NM_001009944.3(PKD1):c.1854C>G (p.Thr618=)
|
|
|
NM_001009944.3(PKD1):c.1856C>T (p.Pro619Leu)
|
|
|
NM_001009944.3(PKD1):c.1857G>A (p.Pro619=)
|
rs749014917
|
|
NM_001009944.3(PKD1):c.1869C>T (p.Ser623=)
|
|
|
NM_001009944.3(PKD1):c.1870G>A (p.Glu624Lys)
|
|
|
NM_001009944.3(PKD1):c.1886C>G (p.Ser629Cys)
|
rs569768187
|
|
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp)
|
rs763213387
|
|
NM_001009944.3(PKD1):c.1895A>G (p.Asn632Ser)
|
|
|
NM_001009944.3(PKD1):c.1900A>G (p.Thr634Ala)
|
|
|
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter)
|
rs1348307652
|
|
NM_001009944.3(PKD1):c.1903dup (p.Gln635fs)
|
rs1567213083
|
|
NM_001009944.3(PKD1):c.1907_1916dup (p.Cys640fs)
|
|
|
NM_001009944.3(PKD1):c.1910C>T (p.Ala637Val)
|
rs1324355778
|
|
NM_001009944.3(PKD1):c.1916C>T (p.Ala639Val)
|
|
|
NM_001009944.3(PKD1):c.1919G>A (p.Cys640Tyr)
|
|
|
NM_001009944.3(PKD1):c.1924C>A (p.Pro642Thr)
|
|
|
NM_001009944.3(PKD1):c.1926del (p.Gly644fs)
|
|
|
NM_001009944.3(PKD1):c.1930G>T (p.Gly644Ter)
|
|
|
NM_001009944.3(PKD1):c.1931del (p.Gly644fs)
|
rs1596580483
|
|
NM_001009944.3(PKD1):c.1937G>A (p.Trp646Ter)
|
|
|
NM_001009944.3(PKD1):c.1938G>A (p.Trp646Ter)
|
|
|
NM_001009944.3(PKD1):c.1938dup (p.Cys647fs)
|
|
|
NM_001009944.3(PKD1):c.1942C>T (p.Pro648Ser)
|
|
|
NM_001009944.3(PKD1):c.1944T>C (p.Pro648=)
|
|
|
NM_001009944.3(PKD1):c.1944dup (p.Gly649fs)
|
rs2544861242
|
|
NM_001009944.3(PKD1):c.1945G>A (p.Gly649Arg)
|
|
|
NM_001009944.3(PKD1):c.1948G>C (p.Ala650Pro)
|
|
|
NM_001009944.3(PKD1):c.195_196insGACC (p.Pro66fs)
|
rs2092939979
|
|
NM_001009944.3(PKD1):c.1964C>T (p.Pro655Leu)
|
|
|
NM_001009944.3(PKD1):c.1969G>A (p.Asp657Asn)
|
|
|
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
|
rs2544860881
|
|
NM_001009944.3(PKD1):c.1987del (p.Gln663fs)
|
rs1238458888
|
|
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
|
rs781018494
|
|
NM_001009944.3(PKD1):c.1A>C (p.Met1Leu)
|
|
|
NM_001009944.3(PKD1):c.1A>T (p.Met1Leu)
|
|
|
NM_001009944.3(PKD1):c.2010G>C (p.Thr670=)
|
rs752795943
|
|
NM_001009944.3(PKD1):c.2012C>G (p.Ser671Ter)
|
rs779227133
|
|
NM_001009944.3(PKD1):c.2015G>A (p.Gly672Glu)
|
rs1479167632
|
|
NM_001009944.3(PKD1):c.2017C>A (p.Pro673Thr)
|
rs372961544
|
|
NM_001009944.3(PKD1):c.2018C>T (p.Pro673Leu)
|
|
|
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup)
|
rs1567212718
|
|
NM_001009944.3(PKD1):c.2027C>T (p.Pro676Leu)
|
|
|
NM_001009944.3(PKD1):c.2029G>A (p.Gly677Arg)
|
rs770774357
|
|
NM_001009944.3(PKD1):c.2032del (p.Ala678fs)
|
rs2092615974
|
|
NM_001009944.3(PKD1):c.2033C>T (p.Ala678Val)
|
|
|
NM_001009944.3(PKD1):c.2037del (p.Tyr680fs)
|
rs2544860522
|
|
NM_001009944.3(PKD1):c.2038T>G (p.Tyr680Asp)
|
rs2151816239
|
|
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs)
|
rs1448641464
|
|
NM_001009944.3(PKD1):c.2042C>T (p.Ala681Val)
|
|
|
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter)
|
rs1174034883
|
|
NM_001009944.3(PKD1):c.2049G>A (p.Trp683Ter)
|
|
|
NM_001009944.3(PKD1):c.2050A>T (p.Arg684Ter)
|
rs1416326519
|
|
NM_001009944.3(PKD1):c.2053G>T (p.Glu685Ter)
|
|
|
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs)
|
rs2151816205
|
|
NM_001009944.3(PKD1):c.2055G>T (p.Glu685Asp)
|
|
|
NM_001009944.3(PKD1):c.2059_2061del (p.Leu687del)
|
rs2544860380
|
|
NM_001009944.3(PKD1):c.2066C>A (p.Ser689Tyr)
|
|
|
NM_001009944.3(PKD1):c.2069T>A (p.Val690Asp)
|
|
|
NM_001009944.3(PKD1):c.206C>T (p.Ala69Val)
|
rs2151858171
|
|
NM_001009944.3(PKD1):c.2076G>A (p.Ala692=)
|
rs1317987043
|
|
NM_001009944.3(PKD1):c.2078_2089dup (p.Ala696_Gln697insArgProProAla)
|
rs2092614761
|
|
NM_001009944.3(PKD1):c.2079G>C (p.Gly693=)
|
|
|
NM_001009944.3(PKD1):c.2079del (p.Ala696fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2081_2085dup (p.Ala696fs)
|
|
|
NM_001009944.3(PKD1):c.2085del (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2086G>A (p.Ala696Thr)
|
rs772014211
|
|
NM_001009944.3(PKD1):c.2089C>T (p.Gln697Ter)
|
rs2151816083
|
|
NM_001009944.3(PKD1):c.208A>C (p.Thr70Pro)
|
|
|
NM_001009944.3(PKD1):c.2093_2097+2del
|
|
|
NM_001009944.3(PKD1):c.2095T>C (p.Ser699Pro)
|
rs2544860133
|
|
NM_001009944.3(PKD1):c.2096C>A (p.Ser699Ter)
|
rs774476595
|
|
NM_001009944.3(PKD1):c.2096del (p.Ser699fs)
|
|
|
NM_001009944.3(PKD1):c.2097+1G>A
|
rs2151816064
|
|
NM_001009944.3(PKD1):c.2097+211_6915+1del
|
|
|
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=)
|
rs2544860109
|
|
NM_001009944.3(PKD1):c.2098-1G>C
|
rs1567211807
|
|
NM_001009944.3(PKD1):c.2099T>A (p.Val700Asp)
|
|
|
NM_001009944.3(PKD1):c.2100C>G (p.Val700=)
|
|
|
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.2104C>T (p.Leu702Phe)
|
|
|
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.2110G>T (p.Gly704Cys)
|
|
|
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter)
|
rs2092604224
|
|
NM_001009944.3(PKD1):c.2122C>A (p.Leu708Ile)
|
|
|
NM_001009944.3(PKD1):c.2126T>C (p.Met709Thr)
|
|
|
NM_001009944.3(PKD1):c.2128C>T (p.Leu710Phe)
|
|
|
NM_001009944.3(PKD1):c.2136T>C (p.Gly712=)
|
rs565591302
|
|
NM_001009944.3(PKD1):c.2139C>A (p.Asp713Glu)
|
rs1487434772
|
|
NM_001009944.3(PKD1):c.2143G>A (p.Val715Ile)
|
|
|
NM_001009944.3(PKD1):c.2143G>T (p.Val715Phe)
|
rs1264766449
|
|
NM_001009944.3(PKD1):c.2143_6915+1del
|
|
|
NM_001009944.3(PKD1):c.2144T>C (p.Val715Ala)
|
|
|
NM_001009944.3(PKD1):c.215+1G>C
|
rs1555462433
|
|
NM_001009944.3(PKD1):c.215+1G>T
|
rs1555462433
|
|
NM_001009944.3(PKD1):c.215+2T>G
|
rs2544960078
|
|
NM_001009944.3(PKD1):c.215+2_215+3del
|
rs2092939625
|
|
NM_001009944.3(PKD1):c.215+4_215+5insACAG
|
rs1555462432
|
|
NM_001009944.3(PKD1):c.215+5G>A
|
|
|
NM_001009944.3(PKD1):c.215+672G>A
|
|
|
NM_001009944.3(PKD1):c.2152C>A (p.Gln718Lys)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.2153A>G (p.Gln718Arg)
|
rs754490344
|
|
NM_001009944.3(PKD1):c.2155C>T (p.His719Tyr)
|
rs2544856256
|
|
NM_001009944.3(PKD1):c.2156A>G (p.His719Arg)
|
|
|
NM_001009944.3(PKD1):c.2158G>T (p.Asp720Tyr)
|
|
|
NM_001009944.3(PKD1):c.215T>A (p.Leu72Gln)
|
rs1596636573
|
|
NM_001009944.3(PKD1):c.216-18C>T
|
|
|
NM_001009944.3(PKD1):c.216-38G>A
|
rs3874659
|
|
NM_001009944.3(PKD1):c.216-3C>T
|
|
|
NM_001009944.3(PKD1):c.216-8C>G
|
rs1157566139
|
|
NM_001009944.3(PKD1):c.2160C>T (p.Asp720=)
|
|
|
NM_001009944.3(PKD1):c.2161G>A (p.Ala721Thr)
|
rs1085307516
|
|
NM_001009944.3(PKD1):c.2169_2170delinsA (p.Gly724fs)
|
|
|
NM_001009944.3(PKD1):c.2170G>T (p.Gly724Cys)
|
rs2544856180
|
|
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2180_2182del (p.Leu727del)
|
|
|
NM_001009944.3(PKD1):c.2189C>T (p.Ser730Leu)
|
|
|
NM_001009944.3(PKD1):c.218A>G (p.Asp73Gly)
|
rs2151826654
|
|
NM_001009944.3(PKD1):c.2195C>T (p.Ala732Val)
|
|
|
NM_001009944.3(PKD1):c.2208T>C (p.Pro736=)
|
|
|
NM_001009944.3(PKD1):c.2210del (p.Gly737fs)
|
|
|
NM_001009944.3(PKD1):c.2212C>A (p.Pro738Thr)
|
|
|
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)
|
rs747483368
|
|
NM_001009944.3(PKD1):c.2226C>G (p.Tyr742Ter)
|
|
|
NM_001009944.3(PKD1):c.2227C>G (p.Leu743Val)
|
|
|
NM_001009944.3(PKD1):c.2232del (p.Ala745fs)
|
|
|
NM_001009944.3(PKD1):c.2233G>A (p.Ala745Thr)
|
rs995499499
|
|
NM_001009944.3(PKD1):c.2237A>G (p.Asn746Ser)
|
|
|
NM_001009944.3(PKD1):c.2244G>C (p.Ser748=)
|
rs557661193
|
|
NM_001009944.3(PKD1):c.2246C>G (p.Ser749Ter)
|
|
|
NM_001009944.3(PKD1):c.224C>A (p.Ser75Tyr)
|
rs2544886187
|
|
NM_001009944.3(PKD1):c.224C>T (p.Ser75Phe)
|
|
|
NM_001009944.3(PKD1):c.2250G>A (p.Trp750Ter)
|
rs2092601367
|
|
NM_001009944.3(PKD1):c.2253G>T (p.Leu751=)
|
|
|
NM_001009944.3(PKD1):c.2258A>T (p.His753Leu)
|
|
|
NM_001009944.3(PKD1):c.2262dup (p.Pro755fs)
|
rs2544855475
|
|
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter)
|
rs775710328
|
|
NM_001009944.3(PKD1):c.2282C>A (p.Thr761Asn)
|
|
|
NM_001009944.3(PKD1):c.2285G>A (p.Trp762Ter)
|
|
|
NM_001009944.3(PKD1):c.2287G>A (p.Ala763Thr)
|
|
|
NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs)
|
rs2092600667
|
|
NM_001009944.3(PKD1):c.2294C>T (p.Pro765Leu)
|
|
|
NM_001009944.3(PKD1):c.2298_2308del (p.Cys767fs)
|
rs1567211181
|
|
NM_001009944.3(PKD1):c.2300G>C (p.Cys767Ser)
|
rs2544855190
|
|
NM_001009944.3(PKD1):c.2306T>G (p.Leu769Arg)
|
rs2092600592
|
|
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs)
|
rs2092600549
|
|
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser)
|
rs2092686792
|
|
NM_001009944.3(PKD1):c.2312T>G (p.Leu771Arg)
|
|
|
NM_001009944.3(PKD1):c.2315T>C (p.Leu772Pro)
|
|
|
NM_001009944.3(PKD1):c.231C>A (p.Asn77Lys)
|
|
|
NM_001009944.3(PKD1):c.2320G>A (p.Ala774Thr)
|
|
|
NM_001009944.3(PKD1):c.2335A>G (p.Thr779Ala)
|
|
|
NM_001009944.3(PKD1):c.2338G>A (p.Val780Met)
|
rs780727251
|
|
NM_001009944.3(PKD1):c.2345T>C (p.Leu782Pro)
|
|
|
NM_001009944.3(PKD1):c.235del (p.Leu79fs)
|
rs2544886159
|
|
NM_001009944.3(PKD1):c.2362C>A (p.Pro788Thr)
|
|
|
NM_001009944.3(PKD1):c.2367A>G (p.Gly789=)
|
|
|
NM_001009944.3(PKD1):c.236T>C (p.Leu79Pro)
|
|
|
NM_001009944.3(PKD1):c.236T>G (p.Leu79Arg)
|
|
|
NM_001009944.3(PKD1):c.2371C>T (p.Arg791Trp)
|
|
|
NM_001009944.3(PKD1):c.2374C>G (p.Leu792Val)
|
|
|
NM_001009944.3(PKD1):c.2376_2382del (p.Pro793fs)
|
rs2092599090
|
|
NM_001009944.3(PKD1):c.2387A>C (p.Tyr796Ser)
|
|
|
NM_001009944.3(PKD1):c.2391G>A (p.Glu797=)
|
rs2092598849
|
|
NM_001009944.3(PKD1):c.2395C>T (p.Arg799Trp)
|
|
|
NM_001009944.3(PKD1):c.2396_2421del (p.Arg799fs)
|
rs2092598385
|
|
NM_001009944.3(PKD1):c.2401_2410dup (p.Asn804fs)
|
|
|
NM_001009944.3(PKD1):c.2405T>A (p.Val802Glu)
|
|
|
NM_001009944.3(PKD1):c.2414del (p.Gly805fs)
|
rs2544854273
|
|
NM_001009944.3(PKD1):c.2415C>T (p.Gly805=)
|
|
|
NM_001009944.3(PKD1):c.2421C>G (p.Ser807=)
|
rs2092598341
|
|
NM_001009944.3(PKD1):c.2425C>T (p.His809Tyr)
|
|
|
NM_001009944.3(PKD1):c.2426A>C (p.His809Pro)
|
rs1567210816
|
|
NM_001009944.3(PKD1):c.2427_2428del (p.His809fs)
|
|
|
NM_001009944.3(PKD1):c.2428A>C (p.Asn810His)
|
|
|
NM_001009944.3(PKD1):c.2428A>G (p.Asn810Asp)
|
|
|
NM_001009944.3(PKD1):c.2430C>T (p.Asn810=)
|
|
|
NM_001009944.3(PKD1):c.2431C>T (p.Leu811Phe)
|
|
|
NM_001009944.3(PKD1):c.2436del (p.Cys813fs)
|
|
|
NM_001009944.3(PKD1):c.2438G>T (p.Cys813Phe)
|
rs2092598008
|
|
NM_001009944.3(PKD1):c.2439C>A (p.Cys813Ter)
|
rs746720158
|
|
NM_001009944.3(PKD1):c.2440_2442del (p.Ser814del)
|
|
|
NM_001009944.3(PKD1):c.2444T>C (p.Phe815Ser)
|
rs1596576453
|
|
NM_001009944.3(PKD1):c.2452G>C (p.Val818Leu)
|
rs2092597752
|
|
NM_001009944.3(PKD1):c.2454C>T (p.Val818=)
|
rs1260653228
|
|
NM_001009944.3(PKD1):c.2457C>T (p.Ser819=)
|
rs1454717343
|
|
NM_001009944.3(PKD1):c.2465C>T (p.Ala822Val)
|
rs1361008447
|
|
NM_001009944.3(PKD1):c.2474G>A (p.Arg825Gln)
|
|
|
NM_001009944.3(PKD1):c.2480T>C (p.Ile827Thr)
|
|
|
NM_001009944.3(PKD1):c.2484C>A (p.Tyr828Ter)
|
rs1402606705
|
|
NM_001009944.3(PKD1):c.2486C>G (p.Pro829Arg)
|
|
|
NM_001009944.3(PKD1):c.2488G>T (p.Ala830Ser)
|
|
|
NM_001009944.3(PKD1):c.2489C>A (p.Ala830Asp)
|
|
|
NM_001009944.3(PKD1):c.2490C>G (p.Ala830=)
|
|
|
NM_001009944.3(PKD1):c.2492C>A (p.Pro831His)
|
rs2544853623
|
|
NM_001009944.3(PKD1):c.2494del (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.24_27dup (p.Ala10fs)
|
|
|
NM_001009944.3(PKD1):c.2502C>T (p.Gly834=)
|
|
|
NM_001009944.3(PKD1):c.2503C>T (p.Arg835Cys)
|
|
|
NM_001009944.3(PKD1):c.250G>A (p.Val84Ile)
|
rs914018183
|
|
NM_001009944.3(PKD1):c.2511C>G (p.Tyr837Ter)
|
|
|
NM_001009944.3(PKD1):c.2514G>A (p.Val838=)
|
rs1447865244
|
|
NM_001009944.3(PKD1):c.2518A>G (p.Thr840Ala)
|
|
|
NM_001009944.3(PKD1):c.2524_2525dup (p.Ser843fs)
|
|
|
NM_001009944.3(PKD1):c.2528C>G (p.Ser843Ter)
|
rs2092596212
|
|
NM_001009944.3(PKD1):c.252dup (p.Gly85fs)
|
|
|
NM_001009944.3(PKD1):c.2530G>C (p.Ala844Pro)
|
rs1162533695
|
|
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.2536G>A (p.Val846Met)
|
|
|
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.2543A>C (p.Gln848Pro)
|
|
|
NM_001009944.3(PKD1):c.2548_2557del (p.Asp850fs)
|
rs1596575921
|
|
NM_001009944.3(PKD1):c.2552_2553del (p.Ser851fs)
|
rs2544853323
|
|
NM_001009944.3(PKD1):c.2553_2554del (p.Gly852fs)
|
|
|
NM_001009944.3(PKD1):c.2555G>A (p.Gly852Asp)
|
|
|
NM_001009944.3(PKD1):c.2555G>T (p.Gly852Val)
|
rs1567210413
|
|
NM_001009944.3(PKD1):c.2556T>G (p.Gly852=)
|
rs2544853302
|
|
NM_001009944.3(PKD1):c.2558C>T (p.Ala853Val)
|
|
|
NM_001009944.3(PKD1):c.2558_2634del (p.Ala853fs)
|
|
|
NM_001009944.3(PKD1):c.2561A>G (p.Asn854Ser)
|
|
|
NM_001009944.3(PKD1):c.2563G>A (p.Ala855Thr)
|
|
|
NM_001009944.3(PKD1):c.2563del (p.Ala855fs)
|
|
|
NM_001009944.3(PKD1):c.2573C>T (p.Thr858Met)
|
|
|
NM_001009944.3(PKD1):c.2574G>T (p.Thr858=)
|
rs765756572
|
|
NM_001009944.3(PKD1):c.2581T>A (p.Trp861Arg)
|
rs2544853124
|
|
NM_001009944.3(PKD1):c.2591G>A (p.Gly864Asp)
|
|
|
NM_001009944.3(PKD1):c.25C>A (p.Leu9Met)
|
|
|
NM_001009944.3(PKD1):c.2602G>T (p.Ala868Ser)
|
|
|
NM_001009944.3(PKD1):c.2605C>G (p.Arg869Gly)
|
|
|
NM_001009944.3(PKD1):c.2605C>T (p.Arg869Cys)
|
|
|
NM_001009944.3(PKD1):c.2605del (p.Arg869fs)
|
rs2092594790
|
|
NM_001009944.3(PKD1):c.2606G>C (p.Arg869Pro)
|
rs377303753
|
|
NM_001009944.3(PKD1):c.2609_2610dup (p.Glu871fs)
|
|
|
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs)
|
rs1596575646
|
|
NM_001009944.3(PKD1):c.2618_2622dup (p.Pro875fs)
|
|
|
NM_001009944.3(PKD1):c.2622C>A (p.Cys874Ter)
|
rs2544852828
|
|
NM_001009944.3(PKD1):c.2624C>T (p.Pro875Leu)
|
rs2092594485
|
|
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs)
|
rs1555457807
|
|
NM_001009944.3(PKD1):c.2629C>G (p.Leu877Val)
|
|
|
NM_001009944.3(PKD1):c.2654G>A (p.Cys885Tyr)
|
|
|
NM_001009944.3(PKD1):c.2659del (p.Trp887fs)
|
rs2092593850
|
|
NM_001009944.3(PKD1):c.265A>G (p.Asn89Asp)
|
rs1287585087
|
|
NM_001009944.3(PKD1):c.2660G>A (p.Trp887Ter)
|
rs769587438
|
|
NM_001009944.3(PKD1):c.2661G>A (p.Trp887Ter)
|
|
|
NM_001009944.3(PKD1):c.2662G>C (p.Glu888Gln)
|
rs2544852501
|
|
NM_001009944.3(PKD1):c.2663del (p.Glu888fs)
|
|
|
NM_001009944.3(PKD1):c.2667dup (p.Asn890fs)
|
rs2092593686
|
|
NM_001009944.3(PKD1):c.2674del (p.Thr892fs)
|
rs2544852424
|
|
NM_001009944.3(PKD1):c.2675C>T (p.Thr892Ile)
|
|
|
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs)
|
rs1567210080
|
|
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer)
|
rs2151813077
|
|
NM_001009944.3(PKD1):c.2684C>A (p.Ser895Ter)
|
rs2544852332
|
|
NM_001009944.3(PKD1):c.2684C>G (p.Ser895Ter)
|
|
|
NM_001009944.3(PKD1):c.2688_2698del (p.Leu899fs)
|
rs2544852242
|
|
NM_001009944.3(PKD1):c.268del (p.Leu90fs)
|
|
|
NM_001009944.3(PKD1):c.2695C>G (p.Leu899Val)
|
|
|
NM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter)
|
rs2092592999
|
|
NM_001009944.3(PKD1):c.2703G>A (p.Trp901Ter)
|
|
|
NM_001009944.3(PKD1):c.2709_2712del (p.Ser903fs)
|
|
|
NM_001009944.3(PKD1):c.2711_2712del (p.Glu904fs)
|
|
|
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter)
|
rs2151812964
|
|
NM_001009944.3(PKD1):c.2719_2727del (p.His907_Val909del)
|
|
|
NM_001009944.3(PKD1):c.2719dup (p.His907fs)
|
|
|
NM_001009944.3(PKD1):c.2720A>C (p.His907Pro)
|
rs762605679
|
|
NM_001009944.3(PKD1):c.2720ACGTGGTGG[1] (p.Asp910_Val912del)
|
rs2092591934
|
|
NM_001009944.3(PKD1):c.2720ACGTGGTGG[3] (p.Asp910_Val912dup)
|
rs2092591934
|
|
NM_001009944.3(PKD1):c.2722G>A (p.Val908Met)
|
|
|
NM_001009944.3(PKD1):c.2725G>C (p.Val909Leu)
|
|
|
NM_001009944.3(PKD1):c.2726T>G (p.Val909Gly)
|
|
|
NM_001009944.3(PKD1):c.2729_2730del (p.Asp910fs)
|
|
|
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter)
|
rs1339097856
|
|
NM_001009944.3(PKD1):c.2730_2741del (p.Asp910_Val913del)
|
|
|
NM_001009944.3(PKD1):c.2732T>G (p.Val911Gly)
|
rs1596575196
|
|
NM_001009944.3(PKD1):c.2732TGG[2] (p.Val913del)
|
|
|
NM_001009944.3(PKD1):c.2732_2753dup (p.Arg919fs)
|
|
|
NM_001009944.3(PKD1):c.2746A>G (p.Ser916Gly)
|
|
|
NM_001009944.3(PKD1):c.2756G>A (p.Arg919Gln)
|
|
|
NM_001009944.3(PKD1):c.2759C>G (p.Ala920Gly)
|
rs1555457748
|
|
NM_001009944.3(PKD1):c.275del (p.Ala92fs)
|
rs1567219735
|
|
NM_001009944.3(PKD1):c.2774G>T (p.Arg925Leu)
|
rs759227115
|
|
NM_001009944.3(PKD1):c.2775G>C (p.Arg925=)
|
|
|
NM_001009944.3(PKD1):c.2777_2789del (p.Val926fs)
|
rs2092590647
|
|
NM_001009944.3(PKD1):c.2779A>G (p.Thr927Ala)
|
|
|
NM_001009944.3(PKD1):c.2780CGG[1] (p.Ala928del)
|
rs1596574952
|
|
NM_001009944.3(PKD1):c.2781G>A (p.Thr927=)
|
|
|
NM_001009944.3(PKD1):c.2781G>T (p.Thr927=)
|
|
|
NM_001009944.3(PKD1):c.2781_2782insAG (p.Ala928fs)
|
rs1596574987
|
|
NM_001009944.3(PKD1):c.2783C>T (p.Ala928Val)
|
|
|
NM_001009944.3(PKD1):c.2784_2796del (p.Glu929fs)
|
rs2544851545
|
|
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro)
|
rs2151826530
|
|
NM_001009944.3(PKD1):c.2790G>T (p.Glu930Asp)
|
|
|
NM_001009944.3(PKD1):c.2801del (p.Gly934fs)
|
|
|
NM_001009944.3(PKD1):c.2802C>T (p.Gly934=)
|
rs770057593
|
|
NM_001009944.3(PKD1):c.2803C>T (p.Leu935Phe)
|
|
|
NM_001009944.3(PKD1):c.2804_2829del (p.Leu935fs)
|
rs1567209616
|
|
NM_001009944.3(PKD1):c.2809G>A (p.Ala937Thr)
|
|
|
NM_001009944.3(PKD1):c.2811C>T (p.Ala937=)
|
|
|
NM_001009944.3(PKD1):c.2821C>T (p.Pro941Ser)
|
|
|
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs)
|
rs1596574774
|
|
NM_001009944.3(PKD1):c.2829C>T (p.Ala943=)
|
|
|
NM_001009944.3(PKD1):c.2830C>T (p.Arg944Cys)
|
|
|
NM_001009944.3(PKD1):c.2831G>A (p.Arg944His)
|
|
|
NM_001009944.3(PKD1):c.2837dup (p.Gln947fs)
|
|
|
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter)
|
rs763199691
|
|
NM_001009944.3(PKD1):c.2842_2843delinsC (p.Gly948fs)
|
|
|
NM_001009944.3(PKD1):c.2848C>A (p.Leu950Ile)
|
rs368272435
|
|
NM_001009944.3(PKD1):c.2848del (p.Val949_Leu950insTer)
|
|
|
NM_001009944.3(PKD1):c.2850del (p.Leu950_Val951insTer)
|
rs2544851099
|
|
NM_001009944.3(PKD1):c.2852del (p.Val951fs)
|
|
|
NM_001009944.3(PKD1):c.2853+10G>T
|
|
|
NM_001009944.3(PKD1):c.2853+1G>A
|
rs2151812559
|
|
NM_001009944.3(PKD1):c.2853+5G>A
|
|
|
NM_001009944.3(PKD1):c.2853+5G>C
|
rs1287693928
|
|
NM_001009944.3(PKD1):c.2854-10C>G
|
rs550309168
|
|
NM_001009944.3(PKD1):c.2854-11del
|
|
|
NM_001009944.3(PKD1):c.2854-1G>T
|
rs2544845417
|
|
NM_001009944.3(PKD1):c.2854-2A>G
|
rs1555457488
|
|
NM_001009944.3(PKD1):c.2857T>G (p.Tyr953Asp)
|
rs2544845376
|
|
NM_001009944.3(PKD1):c.2858A>C (p.Tyr953Ser)
|
|
|
NM_001009944.3(PKD1):c.285G>C (p.Glu95Asp)
|
|
|
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp)
|
rs1305213807
|
|
NM_001009944.3(PKD1):c.2861del (p.Ser954fs)
|
rs1555457482
|
|
NM_001009944.3(PKD1):c.2864C>G (p.Pro955Arg)
|
rs761054130
|
|
NM_001009944.3(PKD1):c.2865dup (p.Val956fs)
|
rs2544845327
|
|
NM_001009944.3(PKD1):c.2867dup (p.Val957fs)
|
rs1567208136
|
|
NM_001009944.3(PKD1):c.287+15G>A
|
|
|
NM_001009944.3(PKD1):c.287+4A>G
|
|
|
NM_001009944.3(PKD1):c.2870T>C (p.Val957Ala)
|
rs1555457473
|
|
NM_001009944.3(PKD1):c.2877C>T (p.Ala959=)
|
|
|
NM_001009944.3(PKD1):c.2877_2880del (p.Gly960fs)
|
rs2151809215
|
|
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)
|
rs1567208088
|
|
NM_001009944.3(PKD1):c.2879G>T (p.Gly960Val)
|
|
|
NM_001009944.3(PKD1):c.287T>A (p.Leu96Gln)
|
|
|
NM_001009944.3(PKD1):c.287T>C (p.Leu96Pro)
|
|
|
NM_001009944.3(PKD1):c.288-11G>C
|
rs750270591
|
|
NM_001009944.3(PKD1):c.288-1G>C
|
|
|
NM_001009944.3(PKD1):c.288-2A>G
|
rs2092684358
|
|
NM_001009944.3(PKD1):c.288-6_288-5del
|
rs2092684439
|
|
NM_001009944.3(PKD1):c.2882C>G (p.Ser961Trp)
|
|
|
NM_001009944.3(PKD1):c.2884G>C (p.Asp962His)
|
|
|
NM_001009944.3(PKD1):c.2885A>G (p.Asp962Gly)
|
rs1567208045
|
|
NM_001009944.3(PKD1):c.2897G>A (p.Arg966Gln)
|
|
|
NM_001009944.3(PKD1):c.2900G>A (p.Trp967Ter)
|
|
|
NM_001009944.3(PKD1):c.2902A>G (p.Thr968Ala)
|
rs1555457457
|
|
NM_001009944.3(PKD1):c.2906T>C (p.Ile969Thr)
|
|
|
NM_001009944.3(PKD1):c.290A>G (p.Asp97Gly)
|
rs2092684310
|
|
NM_001009944.3(PKD1):c.290del (p.Asp97fs)
|
rs2092684328
|
|
NM_001009944.3(PKD1):c.2911_2914dup (p.Lys972fs)
|
|
|
NM_001009944.3(PKD1):c.2914A>G (p.Lys972Glu)
|
rs2092566273
|
|
NM_001009944.3(PKD1):c.2914A>T (p.Lys972Ter)
|
rs2092566273
|
|
NM_001009944.3(PKD1):c.2917C>T (p.Gln973Ter)
|
|
|
NM_001009944.3(PKD1):c.291T>A (p.Asp97Glu)
|
|
|
NM_001009944.3(PKD1):c.2923C>T (p.Leu975=)
|
rs961951428
|
|
NM_001009944.3(PKD1):c.2927C>G (p.Thr976Ser)
|
|
|
NM_001009944.3(PKD1):c.2927C>T (p.Thr976Ile)
|
|
|
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.2933A>G (p.Gln978Arg)
|
rs1555457445
|
|
NM_001009944.3(PKD1):c.2941G>T (p.Val981Phe)
|
|
|
NM_001009944.3(PKD1):c.2942T>C (p.Val981Ala)
|
rs1555457440
|
|
NM_001009944.3(PKD1):c.2948A>G (p.Asn983Ser)
|
rs753961474
|
|
NM_001009944.3(PKD1):c.2952_2955del (p.Tyr986fs)
|
rs2544844866
|
|
NM_001009944.3(PKD1):c.2957A>T (p.Tyr986Phe)
|
|
|
NM_001009944.3(PKD1):c.2958_2959del (p.Tyr986_Gln987delinsTer)
|
|
|
NM_001009944.3(PKD1):c.295A>C (p.Ser99Arg)
|
|
|
NM_001009944.3(PKD1):c.2960_2973del (p.Gln987fs)
|
|
|
NM_001009944.3(PKD1):c.2961_2977del (p.Ser988fs)
|
|
|
NM_001009944.3(PKD1):c.2962_2963del (p.Ser988fs)
|
rs2544844831
|
|
NM_001009944.3(PKD1):c.2962_2985+1del
|
rs2544844679
|
|
NM_001009944.3(PKD1):c.2966C>T (p.Ala989Val)
|
|
|
NM_001009944.3(PKD1):c.2966_2967insCC (p.Ala990fs)
|
rs1567207841
|
|
NM_001009944.3(PKD1):c.2966_2970del (p.Ala989fs)
|
rs2544844747
|
|
NM_001009944.3(PKD1):c.2966_2985+48del
|
|
|
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=)
|
rs1324429294
|
|
NM_001009944.3(PKD1):c.2968_2969delinsCT (p.Ala990Leu)
|
rs2544844757
|
|
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
|
rs2544844763
|
|
NM_001009944.3(PKD1):c.2968dup (p.Ala990fs)
|
|
|
NM_001009944.3(PKD1):c.296G>T (p.Ser99Ile)
|
rs1567219544
|
|
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del)
|
rs2544885084
|
|
NM_001009944.3(PKD1):c.2981T>G (p.Leu994Arg)
|
|
|
NM_001009944.3(PKD1):c.2983T>A (p.Ser995Thr)
|
|
|
NM_001009944.3(PKD1):c.2984C>G (p.Ser995Ter)
|
|
|
NM_001009944.3(PKD1):c.2985+11G>A
|
|
|
NM_001009944.3(PKD1):c.2985+1G>A
|
|
|
NM_001009944.3(PKD1):c.2985+2_2985+4del
|
|
|
NM_001009944.3(PKD1):c.2985+3A>C
|
|
|
NM_001009944.3(PKD1):c.2985+3del
|
|
|
NM_001009944.3(PKD1):c.2985+6_2985+52del
|
|
|
NM_001009944.3(PKD1):c.2985_2985+3del
|
rs1382386686
|
|
NM_001009944.3(PKD1):c.2986-12del
|
rs2092557921
|
|
NM_001009944.3(PKD1):c.2986-15C>T
|
rs2855349
|
|
NM_001009944.3(PKD1):c.2986-1G>A
|
rs2092557654
|
|
NM_001009944.3(PKD1):c.2986-2A>G
|
|
|
NM_001009944.3(PKD1):c.2987T>C (p.Leu996Pro)
|
|
|
NM_001009944.3(PKD1):c.2990C>T (p.Thr997Met)
|
|
|
NM_001009944.3(PKD1):c.2992G>C (p.Ala998Pro)
|
rs2092557509
|
|
NM_001009944.3(PKD1):c.2996C>G (p.Ser999Cys)
|
|
|
NM_001009944.3(PKD1):c.2996C>T (p.Ser999Phe)
|
|
|
NM_001009944.3(PKD1):c.29_40del (p.Ala10_Leu13del)
|
rs2544960691
|
|
NM_001009944.3(PKD1):c.29_46del (p.Ala10_Leu15del)
|
rs2544960670
|
|
NM_001009944.3(PKD1):c.2T>A (p.Met1Lys)
|
|
|
NM_001009944.3(PKD1):c.3001C>A (p.His1001Asn)
|
rs764630631
|
|
NM_001009944.3(PKD1):c.3006G>A (p.Val1002=)
|
|
|
NM_001009944.3(PKD1):c.3007_3024dup (p.Ser1003_Asn1008dup)
|
rs1555457321
|
|
NM_001009944.3(PKD1):c.3010A>T (p.Asn1004Tyr)
|
rs1184516660
|
|
NM_001009944.3(PKD1):c.3015_3032del (p.Asn1008_Val1013del)
|
|
|
NM_001009944.3(PKD1):c.3016A>T (p.Thr1006Ser)
|
rs2092557006
|
|
NM_001009944.3(PKD1):c.3019G>T (p.Val1007Leu)
|
|
|
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp)
|
rs2092684149
|
|
NM_001009944.3(PKD1):c.3020T>C (p.Val1007Ala)
|
|
|
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del)
|
rs1567207029
|
|
NM_001009944.3(PKD1):c.3026A>G (p.Tyr1009Cys)
|
|
|
NM_001009944.3(PKD1):c.302A>G (p.Asn101Ser)
|
|
|
NM_001009944.3(PKD1):c.302del (p.Asn101fs)
|
rs2151826161
|
|
NM_001009944.3(PKD1):c.3034dup (p.Thr1012fs)
|
|
|
NM_001009944.3(PKD1):c.3035C>T (p.Thr1012Ile)
|
|
|
NM_001009944.3(PKD1):c.3036C>T (p.Thr1012=)
|
|
|
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.304A>T (p.Lys102Ter)
|
rs2092684104
|
|
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter)
|
rs753261451
|
|
NM_001009944.3(PKD1):c.305_307del (p.Lys102del)
|
rs1567219527
|
|
NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter)
|
rs2092555939
|
|
NM_001009944.3(PKD1):c.3068A>T (p.Gln1023Leu)
|
|
|
NM_001009944.3(PKD1):c.3070G>A (p.Val1024Ile)
|
|
|
NM_001009944.3(PKD1):c.3071delinsCCC (p.Val1024fs)
|
rs1567206904
|
|
NM_001009944.3(PKD1):c.3075del (p.Thr1026fs)
|
|
|
NM_001009944.3(PKD1):c.3077C>T (p.Thr1026Ile)
|
|
|
NM_001009944.3(PKD1):c.3083C>G (p.Pro1028Arg)
|
|
|
NM_001009944.3(PKD1):c.308T>C (p.Ile103Thr)
|
|
|
NM_001009944.3(PKD1):c.3094del (p.Ser1032fs)
|
|
|
NM_001009944.3(PKD1):c.30G>C (p.Ala10=)
|
|
|
NM_001009944.3(PKD1):c.3100A>T (p.Asn1034Tyr)
|
|
|
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser)
|
rs28681051
|
|
NM_001009944.3(PKD1):c.3101A>T (p.Asn1034Ile)
|
rs28681051
|
|
NM_001009944.3(PKD1):c.3104C>T (p.Ala1035Val)
|
|
|
NM_001009944.3(PKD1):c.3105_3109del (p.Thr1036fs)
|
|
|
NM_001009944.3(PKD1):c.3106A>G (p.Thr1036Ala)
|
|
|
NM_001009944.3(PKD1):c.3106dup (p.Thr1036fs)
|
|
|
NM_001009944.3(PKD1):c.3113C>A (p.Ala1038Glu)
|
|
|
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)
|
rs2151806438
|
|
NM_001009944.3(PKD1):c.3121del (p.Ala1041fs)
|
|
|
NM_001009944.3(PKD1):c.3122C>A (p.Ala1041Glu)
|
rs777881528
|
|
NM_001009944.3(PKD1):c.3124G>A (p.Gly1042Ser)
|
|
|
NM_001009944.3(PKD1):c.3124_3127dup (p.Val1043fs)
|
|
|
NM_001009944.3(PKD1):c.3126C>T (p.Gly1042=)
|
|
|
NM_001009944.3(PKD1):c.3128del (p.Val1043fs)
|
rs1567206632
|
|
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu)
|
rs724159822
|
|
NM_001009944.3(PKD1):c.3141G>A (p.Ser1047=)
|
|
|
NM_001009944.3(PKD1):c.3141_3158dup (p.Ala1052_Phe1053insLeuAlaValGluValAla)
|
|
|
NM_001009944.3(PKD1):c.3145G>T (p.Val1049Leu)
|
|
|
NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del)
|
rs1567206560
|
|
NM_001009944.3(PKD1):c.3148G>T (p.Glu1050Ter)
|
|
|
NM_001009944.3(PKD1):c.315G>A (p.Thr105=)
|
|
|
NM_001009944.3(PKD1):c.3160del (p.Leu1054fs)
|
rs2544840995
|
|
NM_001009944.3(PKD1):c.3161+1G>C
|
rs2544840964
|
|
NM_001009944.3(PKD1):c.3161+1G>T
|
|
|
NM_001009944.3(PKD1):c.3161+5G>A
|
rs2092552533
|
|
NM_001009944.3(PKD1):c.3161+5G>C
|
rs2092552533
|
|
NM_001009944.3(PKD1):c.3161+5G>T
|
|
|
NM_001009944.3(PKD1):c.3161+5_3161+8del
|
rs2544840918
|
|
NM_001009944.3(PKD1):c.3161+6T>G
|
|
|
NM_001009944.3(PKD1):c.3161T>C (p.Leu1054Pro)
|
rs2544840969
|
|
NM_001009944.3(PKD1):c.3162-129G>A
|
|
|
NM_001009944.3(PKD1):c.3162-1G>A
|
rs2544837759
|
|
NM_001009944.3(PKD1):c.3162-1G>C
|
rs2544837759
|
|
NM_001009944.3(PKD1):c.3162-1G>T
|
rs2544837759
|
|
NM_001009944.3(PKD1):c.3162-3C>G
|
rs2544837768
|
|
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)
|
rs1596566550
|
|
NM_001009944.3(PKD1):c.3168del (p.Phe1057fs)
|
|
|
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser)
|
rs2151804604
|
|
NM_001009944.3(PKD1):c.3171_3172del (p.Phe1057fs)
|
rs2151804597
|
|
NM_001009944.3(PKD1):c.3175G>T (p.Asp1059Tyr)
|
|
|
NM_001009944.3(PKD1):c.3181G>T (p.Glu1061Ter)
|
|
|
NM_001009944.3(PKD1):c.3182dup (p.Gln1062fs)
|
|
|
NM_001009944.3(PKD1):c.3184C>T (p.Gln1062Ter)
|
rs1231492796
|
|
NM_001009944.3(PKD1):c.3185A>G (p.Gln1062Arg)
|
|
|
NM_001009944.3(PKD1):c.3190C>T (p.Leu1064Phe)
|
|
|
NM_001009944.3(PKD1):c.3196C>T (p.Gln1066Ter)
|
|
|
NM_001009944.3(PKD1):c.3197A>G (p.Gln1066Arg)
|
rs2544837448
|
|
NM_001009944.3(PKD1):c.3200T>C (p.Phe1067Ser)
|
rs1596566400
|
|
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)
|
rs2092538738
|
|
NM_001009944.3(PKD1):c.3205C>T (p.Pro1069Ser)
|
rs754703070
|
|
NM_001009944.3(PKD1):c.3205_3235del (p.Pro1069fs)
|
rs2092538008
|
|
NM_001009944.3(PKD1):c.320AAG[1] (p.Glu108del)
|
|
|
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser)
|
rs2092538545
|
|
NM_001009944.3(PKD1):c.3213C>G (p.Tyr1071Ter)
|
|
|
NM_001009944.3(PKD1):c.3214A>G (p.Asn1072Asp)
|
|
|
NM_001009944.3(PKD1):c.3214_3216del (p.Asn1072del)
|
|
|
NM_001009944.3(PKD1):c.3216C>G (p.Asn1072Lys)
|
|
|
NM_001009944.3(PKD1):c.3217_3218insTTCGG (p.Glu1073fs)
|
|
|
NM_001009944.3(PKD1):c.3218A>C (p.Glu1073Ala)
|
|
|
NM_001009944.3(PKD1):c.3218del (p.Glu1073fs)
|
rs2544837286
|
|
NM_001009944.3(PKD1):c.3218dup (p.Ser1074fs)
|
|
|
NM_001009944.3(PKD1):c.3229G>A (p.Val1077Ile)
|
|
|
NM_001009944.3(PKD1):c.322G>T (p.Glu108Ter)
|
rs1416011785
|
|
NM_001009944.3(PKD1):c.3237C>G (p.Asp1079Glu)
|
rs775658790
|
|
NM_001009944.3(PKD1):c.3238C>T (p.Pro1080Ser)
|
|
|
NM_001009944.3(PKD1):c.3239C>T (p.Pro1080Leu)
|
rs746334905
|
|
NM_001009944.3(PKD1):c.3240dup (p.Ser1081fs)
|
|
|
NM_001009944.3(PKD1):c.3241T>C (p.Ser1081Pro)
|
rs771477931
|
|
NM_001009944.3(PKD1):c.3242C>A (p.Ser1081Ter)
|
|
|
NM_001009944.3(PKD1):c.3244G>A (p.Val1082Met)
|
|
|
NM_001009944.3(PKD1):c.3244dup (p.Val1082fs)
|
|
|
NM_001009944.3(PKD1):c.3247_3253del (p.Ala1083fs)
|
rs1567205637
|
|
NM_001009944.3(PKD1):c.3250C>T (p.Gln1084Ter)
|
rs1373028227
|
|
NM_001009944.3(PKD1):c.3256C>G (p.Leu1086Val)
|
|
|
NM_001009944.3(PKD1):c.3257T>C (p.Leu1086Pro)
|
|
|
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs)
|
rs1596566156
|
|
NM_001009944.3(PKD1):c.3267del (p.His1089fs)
|
|
|
NM_001009944.3(PKD1):c.3268_3270del (p.Asn1090del)
|
|
|
NM_001009944.3(PKD1):c.3268_3276dup (p.Met1092_His1093insAsnValMet)
|
|
|
NM_001009944.3(PKD1):c.326G>A (p.Gly109Glu)
|
|
|
NM_001009944.3(PKD1):c.3275_3276delinsCC (p.Met1092Thr)
|
rs2151804169
|
|
NM_001009944.3(PKD1):c.3277C>G (p.His1093Asp)
|
rs146352591
|
|
NM_001009944.3(PKD1):c.3278A>G (p.His1093Arg)
|
rs1272028533
|
|
NM_001009944.3(PKD1):c.3280A>G (p.Thr1094Ala)
|
|
|
NM_001009944.3(PKD1):c.3282del (p.Tyr1095fs)
|
|
|
NM_001009944.3(PKD1):c.3283_3285del (p.Tyr1095del)
|
rs2092536449
|
|
NM_001009944.3(PKD1):c.3284A>G (p.Tyr1095Cys)
|
|
|
NM_001009944.3(PKD1):c.3285C>A (p.Tyr1095Ter)
|
rs558648661
|
|
NM_001009944.3(PKD1):c.3292C>A (p.Pro1098Thr)
|
rs1348467197
|
|
NM_001009944.3(PKD1):c.3293C>T (p.Pro1098Leu)
|
|
|
NM_001009944.3(PKD1):c.3294_3295+5del
|
|
|
NM_001009944.3(PKD1):c.3294_3295delinsTT (p.Gly1099Cys)
|
rs2092536146
|
|
NM_001009944.3(PKD1):c.3295+1G>A
|
|
|
NM_001009944.3(PKD1):c.3295+1G>C
|
rs2092536130
|
|
NM_001009944.3(PKD1):c.3295+1G>T
|
rs2092536130
|
|
NM_001009944.3(PKD1):c.3295+2T>G
|
rs2092536098
|
|
NM_001009944.3(PKD1):c.3296-1G>A
|
rs1567204631
|
|
NM_001009944.3(PKD1):c.3296-1G>C
|
rs1567204631
|
|
NM_001009944.3(PKD1):c.3296-2A>G
|
|
|
NM_001009944.3(PKD1):c.3296-4_3304del
|
rs2544832042
|
|
NM_001009944.3(PKD1):c.3296G>A (p.Gly1099Asp)
|
rs754067527
|
|
NM_001009944.3(PKD1):c.3304C>G (p.Leu1102Val)
|
|
|
NM_001009944.3(PKD1):c.3308T>G (p.Leu1103Arg)
|
rs2151801930
|
|
NM_001009944.3(PKD1):c.330A>G (p.Ile110Met)
|
|
|
NM_001009944.3(PKD1):c.330del (p.Phe111fs)
|
rs2151826084
|
|
NM_001009944.3(PKD1):c.3311C>T (p.Thr1104Ile)
|
|
|
NM_001009944.3(PKD1):c.3313G>A (p.Val1105Met)
|
|
|
NM_001009944.3(PKD1):c.3317T>C (p.Leu1106Pro)
|
|
|
NM_001009944.3(PKD1):c.3325A>G (p.Asn1109Asp)
|
rs2544831844
|
|
NM_001009944.3(PKD1):c.3328G>A (p.Ala1110Thr)
|
|
|
NM_001009944.3(PKD1):c.3331_3333del (p.Phe1111del)
|
|
|
NM_001009944.3(PKD1):c.3332_3334del (p.Phe1111_Glu1112delinsTer)
|
|
|
NM_001009944.3(PKD1):c.3338A>G (p.Asn1113Ser)
|
|
|
NM_001009944.3(PKD1):c.3339C>A (p.Asn1113Lys)
|
|
|
NM_001009944.3(PKD1):c.3341T>C (p.Leu1114Pro)
|
|
|
NM_001009944.3(PKD1):c.3341T>G (p.Leu1114Arg)
|
|
|
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter)
|
rs1596563657
|
|
NM_001009944.3(PKD1):c.3347A>T (p.Gln1116Leu)
|
rs778900144
|
|
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)
|
rs755084885
|
|
NM_001009944.3(PKD1):c.3356dup (p.Val1120fs)
|
|
|
NM_001009944.3(PKD1):c.335C>G (p.Ala112Gly)
|
rs1261496619
|
|
NM_001009944.3(PKD1):c.335C>T (p.Ala112Val)
|
|
|
NM_001009944.3(PKD1):c.3361A>G (p.Ser1121Gly)
|
|
|
NM_001009944.3(PKD1):c.3370_3371dup (p.Ser1125fs)
|
|
|
NM_001009944.3(PKD1):c.3373T>G (p.Ser1125Ala)
|
|
|
NM_001009944.3(PKD1):c.3379C>T (p.Pro1127Ser)
|
|
|
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
|
rs2544831329
|
|
NM_001009944.3(PKD1):c.3384C>A (p.Ser1128=)
|
|
|
NM_001009944.3(PKD1):c.3384C>G (p.Ser1128=)
|
rs530066894
|
|
NM_001009944.3(PKD1):c.3388_3395dup (p.Val1133fs)
|
|
|
NM_001009944.3(PKD1):c.3397G>A (p.Val1133Met)
|
|
|
NM_001009944.3(PKD1):c.3398_3399del (p.Val1133fs)
|
|
|
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs)
|
rs1567204146
|
|
NM_001009944.3(PKD1):c.3405C>G (p.Asp1135Glu)
|
|
|
NM_001009944.3(PKD1):c.3409G>C (p.Val1137Leu)
|
|
|
NM_001009944.3(PKD1):c.3412C>T (p.Leu1138=)
|
|
|
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del)
|
rs1060499705
|
|
NM_001009944.3(PKD1):c.3418G>C (p.Ala1140Pro)
|
rs1229555987
|
|
NM_001009944.3(PKD1):c.341_345del (p.Asn113_Leu114insTer)
|
rs2544884834
|
|
NM_001009944.3(PKD1):c.3420del (p.Gly1141fs)
|
|
|
NM_001009944.3(PKD1):c.3421G>A (p.Gly1141Ser)
|
|
|
NM_001009944.3(PKD1):c.3424del (p.Arg1142fs)
|
|
|
NM_001009944.3(PKD1):c.3425G>A (p.Arg1142Gln)
|
|
|
NM_001009944.3(PKD1):c.3425_3428dup (p.Val1144fs)
|
rs2544830957
|
|
NM_001009944.3(PKD1):c.3432C>T (p.Val1144=)
|
rs1156650794
|
|
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)
|
rs762887911
|
|
NM_001009944.3(PKD1):c.3441C>G (p.Tyr1147Ter)
|
rs762887911
|
|
NM_001009944.3(PKD1):c.3442C>G (p.Pro1148Ala)
|
|
|
NM_001009944.3(PKD1):c.3446A>T (p.His1149Leu)
|
|
|
NM_001009944.3(PKD1):c.3456C>G (p.Pro1152=)
|
rs2092510939
|
|
NM_001009944.3(PKD1):c.3458C>T (p.Ser1153Leu)
|
|
|
NM_001009944.3(PKD1):c.3462del (p.Gly1156fs)
|
|
|
NM_001009944.3(PKD1):c.3466_3467dup (p.Leu1158fs)
|
|
|
NM_001009944.3(PKD1):c.3466_3493del (p.Gly1156fs)
|
|
|
NM_001009944.3(PKD1):c.3467G>C (p.Gly1156Ala)
|
rs758919377
|
|
NM_001009944.3(PKD1):c.3477C>G (p.Tyr1159Ter)
|
|
|
NM_001009944.3(PKD1):c.3479C>T (p.Thr1160Met)
|
|
|
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.3486_3489delinsGTTT (p.Asp1162Glu)
|
rs2092509681
|
|
NM_001009944.3(PKD1):c.3487T>G (p.Phe1163Val)
|
|
|
NM_001009944.3(PKD1):c.3489del (p.Phe1163fs)
|
|
|
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.3494A>T (p.Asp1165Val)
|
|
|
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser)
|
rs146887330
|
|
NM_001009944.3(PKD1):c.3503dup (p.Val1169fs)
|
rs1555456661
|
|
NM_001009944.3(PKD1):c.3514C>T (p.Gln1172Ter)
|
|
|
NM_001009944.3(PKD1):c.3516G>C (p.Gln1172His)
|
|
|
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)
|
rs1057518899
|
|
NM_001009944.3(PKD1):c.3521_3524del (p.Gln1174fs)
|
|
|
NM_001009944.3(PKD1):c.3524C>T (p.Pro1175Leu)
|
|
|
NM_001009944.3(PKD1):c.352A>G (p.Ser118Gly)
|
|
|
NM_001009944.3(PKD1):c.3535C>A (p.His1179Asn)
|
|
|
NM_001009944.3(PKD1):c.3538_3539del (p.Thr1180fs)
|
|
|
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.3548C>G (p.Ser1183Trp)
|
|
|
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu)
|
rs551162125
|
|
NM_001009944.3(PKD1):c.3549G>T (p.Ser1183=)
|
rs1166163874
|
|
NM_001009944.3(PKD1):c.3551G>A (p.Arg1184Lys)
|
|
|
NM_001009944.3(PKD1):c.3554G>T (p.Gly1185Val)
|
|
|
NM_001009944.3(PKD1):c.3556A>T (p.Thr1186Ser)
|
|
|
NM_001009944.3(PKD1):c.355G>A (p.Glu119Lys)
|
|
|
NM_001009944.3(PKD1):c.3560A>C (p.Tyr1187Ser)
|
rs2544829830
|
|
NM_001009944.3(PKD1):c.3561C>G (p.Tyr1187Ter)
|
rs2151800871
|
|
NM_001009944.3(PKD1):c.3565G>A (p.Val1189Met)
|
|
|
NM_001009944.3(PKD1):c.3569G>A (p.Arg1190His)
|
rs140152387
|
|
NM_001009944.3(PKD1):c.3569G>T (p.Arg1190Leu)
|
rs140152387
|
|
NM_001009944.3(PKD1):c.3570C>T (p.Arg1190=)
|
|
|
NM_001009944.3(PKD1):c.3571C>G (p.Leu1191Val)
|
|
|
NM_001009944.3(PKD1):c.3572_3573insA (p.Glu1192fs)
|
rs2092507274
|
|
NM_001009944.3(PKD1):c.3586_3587del (p.Thr1196fs)
|
rs2544829575
|
|
NM_001009944.3(PKD1):c.3587C>T (p.Thr1196Met)
|
|
|
NM_001009944.3(PKD1):c.3588G>A (p.Thr1196=)
|
rs752430163
|
|
NM_001009944.3(PKD1):c.359+19G>C
|
|
|
NM_001009944.3(PKD1):c.359+2T>G
|
rs2092683440
|
|
NM_001009944.3(PKD1):c.359+2dup
|
|
|
NM_001009944.3(PKD1):c.359+3A>T
|
rs2151826018
|
|
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)
|
rs753833996
|
|
NM_001009944.3(PKD1):c.3599C>T (p.Ala1200Val)
|
rs753833996
|
|
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)
|
rs1555459345
|
|
NM_001009944.3(PKD1):c.360-7C>G
|
rs2544883399
|
|
NM_001009944.3(PKD1):c.3600_3608delinsC (p.Ala1201fs)
|
|
|
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs)
|
rs778028967
|
|
NM_001009944.3(PKD1):c.3601del (p.Ala1201fs)
|
rs2092506499
|
|
NM_001009944.3(PKD1):c.3604G>T (p.Ala1202Ser)
|
|
|
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter)
|
rs2092506242
|
|
NM_001009944.3(PKD1):c.3611C>A (p.Ala1204Glu)
|
|
|
NM_001009944.3(PKD1):c.3611del (p.Ala1204fs)
|
|
|
NM_001009944.3(PKD1):c.3613G>A (p.Asp1205Asn)
|
|
|
NM_001009944.3(PKD1):c.3613G>C (p.Asp1205His)
|
|
|
NM_001009944.3(PKD1):c.3613del (p.Asp1205fs)
|
rs2544829295
|
|
NM_001009944.3(PKD1):c.3618G>A (p.Val1206=)
|
rs1443461442
|
|
NM_001009944.3(PKD1):c.3619C>T (p.Arg1207Cys)
|
|
|
NM_001009944.3(PKD1):c.3622G>A (p.Val1208Ile)
|
|
|
NM_001009944.3(PKD1):c.3631G>T (p.Glu1211Ter)
|
rs2092505450
|
|
NM_001009944.3(PKD1):c.3636C>T (p.Leu1212=)
|
rs753613908
|
|
NM_001009944.3(PKD1):c.363C>T (p.Asn121=)
|
|
|
NM_001009944.3(PKD1):c.3640G>T (p.Gly1214Ter)
|
|
|
NM_001009944.3(PKD1):c.3644T>C (p.Leu1215Pro)
|
rs1555456557
|
|
NM_001009944.3(PKD1):c.3644T>G (p.Leu1215Arg)
|
|
|
NM_001009944.3(PKD1):c.3648C>T (p.Ser1216=)
|
|
|
NM_001009944.3(PKD1):c.3649G>A (p.Val1217Met)
|
|
|
NM_001009944.3(PKD1):c.3652dup (p.Asp1218fs)
|
|
|
NM_001009944.3(PKD1):c.3655A>C (p.Met1219Leu)
|
|
|
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
|
rs139100448
|
|
NM_001009944.3(PKD1):c.365T>C (p.Leu122Pro)
|
|
|
NM_001009944.3(PKD1):c.3665_3684delinsACATGA (p.Ala1222fs)
|
|
|
NM_001009944.3(PKD1):c.3665_3684delinsAGTACA (p.Ala1222fs)
|
|
|
NM_001009944.3(PKD1):c.3666del (p.Val1223fs)
|
|
|
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met)
|
rs749092859
|
|
NM_001009944.3(PKD1):c.3668T>C (p.Val1223Ala)
|
|
|
NM_001009944.3(PKD1):c.3679G>A (p.Ala1227Thr)
|
|
|
NM_001009944.3(PKD1):c.3680C>T (p.Ala1227Val)
|
|
|
NM_001009944.3(PKD1):c.3684del (p.Val1229fs)
|
rs2092503653
|
|
NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del)
|
rs2092503169
|
|
NM_001009944.3(PKD1):c.3698C>G (p.Ala1233Gly)
|
|
|
NM_001009944.3(PKD1):c.3700G>A (p.Ala1234Thr)
|
|
|
NM_001009944.3(PKD1):c.3704T>A (p.Val1235Glu)
|
|
|
NM_001009944.3(PKD1):c.3704T>C (p.Val1235Ala)
|
|
|
NM_001009944.3(PKD1):c.3706C>T (p.Gln1236Ter)
|
rs2544828429
|
|
NM_001009944.3(PKD1):c.3711G>A (p.Thr1237=)
|
|
|
NM_001009944.3(PKD1):c.3715G>A (p.Asp1239Asn)
|
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.3717C>A (p.Asp1239Glu)
|
|
|
NM_001009944.3(PKD1):c.371_386dup (p.Cys129delinsTrpGluProValTer)
|
|
|
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly)
|
rs2151800134
|
|
NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter)
|
rs2092501974
|
|
NM_001009944.3(PKD1):c.3728G>C (p.Trp1243Ser)
|
|
|
NM_001009944.3(PKD1):c.3729G>A (p.Trp1243Ter)
|
rs2092501936
|
|
NM_001009944.3(PKD1):c.3729G>T (p.Trp1243Cys)
|
rs2092501936
|
|
NM_001009944.3(PKD1):c.3730A>C (p.Thr1244Pro)
|
|
|
NM_001009944.3(PKD1):c.3738_3763dup (p.Gly1255fs)
|
|
|
NM_001009944.3(PKD1):c.3741G>C (p.Met1247Ile)
|
|
|
NM_001009944.3(PKD1):c.3741G>T (p.Met1247Ile)
|
|
|
NM_001009944.3(PKD1):c.3743G>A (p.Gly1248Glu)
|
|
|
NM_001009944.3(PKD1):c.3743G>C (p.Gly1248Ala)
|
|
|
NM_001009944.3(PKD1):c.3743_3745del (p.Gly1248del)
|
rs2092501574
|
|
NM_001009944.3(PKD1):c.3745G>A (p.Asp1249Asn)
|
rs2544828142
|
|
NM_001009944.3(PKD1):c.3745del (p.Asp1249fs)
|
rs2092501574
|
|
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala)
|
rs2092501507
|
|
NM_001009944.3(PKD1):c.3746A>T (p.Asp1249Val)
|
|
|
NM_001009944.3(PKD1):c.3746del (p.Asp1249fs)
|
rs2092501540
|
|
NM_001009944.3(PKD1):c.3748G>A (p.Gly1250Ser)
|
|
|
NM_001009944.3(PKD1):c.3749G>A (p.Gly1250Asp)
|
rs1567202673
|
|
NM_001009944.3(PKD1):c.3752C>G (p.Thr1251Ser)
|
|
|
NM_001009944.3(PKD1):c.3753del (p.Val1252fs)
|
rs2544828080
|
|
NM_001009944.3(PKD1):c.3754G>A (p.Val1252Met)
|
|
|
NM_001009944.3(PKD1):c.3755T>C (p.Val1252Ala)
|
|
|
NM_001009944.3(PKD1):c.3761C>A (p.Ser1254Ter)
|
|
|
NM_001009944.3(PKD1):c.3762G>A (p.Ser1254=)
|
|
|
NM_001009944.3(PKD1):c.3764G>A (p.Gly1255Asp)
|
rs769621459
|
|
NM_001009944.3(PKD1):c.3764del (p.Gly1255fs)
|
rs2544827974
|
|
NM_001009944.3(PKD1):c.3772G>A (p.Ala1258Thr)
|
|
|
NM_001009944.3(PKD1):c.3777_3778del (p.Val1260fs)
|
rs2544827855
|
|
NM_001009944.3(PKD1):c.3779T>G (p.Val1260Gly)
|
|
|
NM_001009944.3(PKD1):c.3785A>C (p.His1262Pro)
|
|
|
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg)
|
rs1057518976
|
|
NM_001009944.3(PKD1):c.3792C>A (p.Tyr1264Ter)
|
rs145263744
|
|
NM_001009944.3(PKD1):c.3792C>T (p.Tyr1264=)
|
|
|
NM_001009944.3(PKD1):c.3793C>T (p.Leu1265=)
|
|
|
NM_001009944.3(PKD1):c.3794T>G (p.Leu1265Arg)
|
|
|
NM_001009944.3(PKD1):c.3797G>A (p.Arg1266Gln)
|
|
|
NM_001009944.3(PKD1):c.3802C>T (p.Gln1268Ter)
|
rs2092500037
|
|
NM_001009944.3(PKD1):c.3803A>T (p.Gln1268Leu)
|
|
|
NM_001009944.3(PKD1):c.3804_3805del (p.Asn1269fs)
|
rs1596561773
|
|
NM_001009944.3(PKD1):c.3809G>A (p.Cys1270Tyr)
|
|
|
NM_001009944.3(PKD1):c.380T>C (p.Phe127Ser)
|
|
|
NM_001009944.3(PKD1):c.380T>G (p.Phe127Cys)
|
rs2092679766
|
|
NM_001009944.3(PKD1):c.3811A>C (p.Thr1271Pro)
|
rs762533590
|
|
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
|
rs2544827572
|
|
NM_001009944.3(PKD1):c.3814G>C (p.Val1272Leu)
|
|
|
NM_001009944.3(PKD1):c.3814del (p.Thr1271_Val1272insTer)
|
|
|
NM_001009944.3(PKD1):c.381dup (p.Glu128Ter)
|
rs2544883301
|
|
NM_001009944.3(PKD1):c.3821T>A (p.Val1274Glu)
|
|
|
NM_001009944.3(PKD1):c.3823G>A (p.Gly1275Ser)
|
|
|
NM_001009944.3(PKD1):c.382dup (p.Glu128fs)
|
|
|
NM_001009944.3(PKD1):c.3830C>T (p.Ala1277Val)
|
|
|
NM_001009944.3(PKD1):c.3833G>T (p.Ser1278Ile)
|
|
|
NM_001009944.3(PKD1):c.3836C>G (p.Pro1279Arg)
|
rs1596561655
|
|
NM_001009944.3(PKD1):c.3838G>A (p.Ala1280Thr)
|
|
|
NM_001009944.3(PKD1):c.383A>C (p.Glu128Ala)
|
|
|
NM_001009944.3(PKD1):c.384del (p.Glu128fs)
|
rs1567219155
|
|
NM_001009944.3(PKD1):c.3850del (p.Ala1284fs)
|
rs1567202350
|
|
NM_001009944.3(PKD1):c.3851C>G (p.Ala1284Gly)
|
rs780429493
|
|
NM_001009944.3(PKD1):c.385T>C (p.Cys129Arg)
|
|
|
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro)
|
rs2544827223
|
|
NM_001009944.3(PKD1):c.3864C>T (p.His1288=)
|
|
|
NM_001009944.3(PKD1):c.3865dup (p.Val1289fs)
|
|
|
NM_001009944.3(PKD1):c.3868C>G (p.Leu1290Val)
|
|
|
NM_001009944.3(PKD1):c.387T>G (p.Cys129Trp)
|
|
|
NM_001009944.3(PKD1):c.3881T>C (p.Leu1294Pro)
|
rs749430418
|
|
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter)
|
rs780119305
|
|
NM_001009944.3(PKD1):c.3890T>C (p.Leu1297Pro)
|
|
|
NM_001009944.3(PKD1):c.3890_3891insCAC (p.Leu1297_Arg1298insThr)
|
rs1567202189
|
|
NM_001009944.3(PKD1):c.3892C>T (p.Arg1298Cys)
|
|
|
NM_001009944.3(PKD1):c.3893G>A (p.Arg1298His)
|
rs536743722
|
|
NM_001009944.3(PKD1):c.3893G>T (p.Arg1298Leu)
|
rs536743722
|
|
NM_001009944.3(PKD1):c.3894C>T (p.Arg1298=)
|
|
|
NM_001009944.3(PKD1):c.3895G>A (p.Val1299Ile)
|
|
|
NM_001009944.3(PKD1):c.3895G>C (p.Val1299Leu)
|
|
|
NM_001009944.3(PKD1):c.3898G>C (p.Glu1300Gln)
|
|
|
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro)
|
rs2092941758
|
|
NM_001009944.3(PKD1):c.3902C>G (p.Pro1301Arg)
|
rs2544826889
|
|
NM_001009944.3(PKD1):c.3902C>T (p.Pro1301Leu)
|
rs2544826889
|
|
NM_001009944.3(PKD1):c.3903_3926del (p.Ala1302_Pro1309del)
|
rs2544826659
|
|
NM_001009944.3(PKD1):c.3904G>A (p.Ala1302Thr)
|
rs139993510
|
|
NM_001009944.3(PKD1):c.3922C>G (p.Gln1308Glu)
|
|
|
NM_001009944.3(PKD1):c.3925C>G (p.Pro1309Ala)
|
rs374776444
|
|
NM_001009944.3(PKD1):c.3926C>G (p.Pro1309Arg)
|
|
|
NM_001009944.3(PKD1):c.3930C>G (p.Asp1310Glu)
|
|
|
NM_001009944.3(PKD1):c.3930_3931insCA (p.Ala1311fs)
|
rs2544826608
|
|
NM_001009944.3(PKD1):c.3931G>A (p.Ala1311Thr)
|
rs146169133
|
|
NM_001009944.3(PKD1):c.3931G>T (p.Ala1311Ser)
|
rs146169133
|
|
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs)
|
rs2151799399
|
|
NM_001009944.3(PKD1):c.3932del (p.Ala1311fs)
|
rs1567201999
|
|
NM_001009944.3(PKD1):c.3937C>A (p.Leu1313Ile)
|
|
|
NM_001009944.3(PKD1):c.393_394del (p.Cys131fs)
|
|
|
NM_001009944.3(PKD1):c.3941C>T (p.Thr1314Met)
|
|
|
NM_001009944.3(PKD1):c.3944C>A (p.Ala1315Asp)
|
rs762953714
|
|
NM_001009944.3(PKD1):c.3948del (p.Ala1315_Tyr1316insTer)
|
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.3955G>C (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.3957_3994dup (p.Asp1332fs)
|
|
|
NM_001009944.3(PKD1):c.3961C>T (p.Pro1321Ser)
|
rs772389436
|
|
NM_001009944.3(PKD1):c.3971A>G (p.Tyr1324Cys)
|
rs2544826149
|
|
NM_001009944.3(PKD1):c.3972C>A (p.Tyr1324Ter)
|
|
|
NM_001009944.3(PKD1):c.3973C>T (p.Leu1325Phe)
|
|
|
NM_001009944.3(PKD1):c.3974T>C (p.Leu1325Pro)
|
|
|
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser)
|
rs2092493397
|
|
NM_001009944.3(PKD1):c.3981C>G (p.Asp1327Glu)
|
rs759664879
|
|
NM_001009944.3(PKD1):c.3982T>C (p.Trp1328Arg)
|
|
|
NM_001009944.3(PKD1):c.3984G>C (p.Trp1328Cys)
|
rs2151799171
|
|
NM_001009944.3(PKD1):c.3986C>T (p.Thr1329Ile)
|
|
|
NM_001009944.3(PKD1):c.3999C>G (p.Gly1333=)
|
rs762183748
|
|
NM_001009944.3(PKD1):c.3999del (p.Ser1334fs)
|
|
|
NM_001009944.3(PKD1):c.3G>A (p.Met1Ile)
|
rs1567233098
|
|
NM_001009944.3(PKD1):c.4001C>T (p.Ser1334Phe)
|
|
|
NM_001009944.3(PKD1):c.4006A>C (p.Asn1336His)
|
|
|
NM_001009944.3(PKD1):c.4007A>C (p.Asn1336Thr)
|
|
|
NM_001009944.3(PKD1):c.4010C>T (p.Thr1337Met)
|
|
|
NM_001009944.3(PKD1):c.4011G>A (p.Thr1337=)
|
|
|
NM_001009944.3(PKD1):c.4012dup (p.Thr1338fs)
|
|
|
NM_001009944.3(PKD1):c.4021G>A (p.Gly1341Arg)
|
|
|
NM_001009944.3(PKD1):c.4023dup (p.Cys1342fs)
|
rs2544825647
|
|
NM_001009944.3(PKD1):c.4029G>A (p.Pro1343=)
|
|
|
NM_001009944.3(PKD1):c.402G>T (p.Ala134=)
|
rs745498965
|
|
NM_001009944.3(PKD1):c.4031C>T (p.Thr1344Met)
|
|
|
NM_001009944.3(PKD1):c.4039C>G (p.His1347Asp)
|
rs774648280
|
|
NM_001009944.3(PKD1):c.4039C>T (p.His1347Tyr)
|
|
|
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs)
|
rs2092491511
|
|
NM_001009944.3(PKD1):c.4042_4044del (p.Asn1348del)
|
|
|
NM_001009944.3(PKD1):c.4043A>G (p.Asn1348Ser)
|
|
|
NM_001009944.3(PKD1):c.4044C>T (p.Asn1348=)
|
|
|
NM_001009944.3(PKD1):c.4047C>G (p.Phe1349Leu)
|
rs770459654
|
|
NM_001009944.3(PKD1):c.4047C>T (p.Phe1349=)
|
rs770459654
|
|
NM_001009944.3(PKD1):c.4048A>C (p.Thr1350Pro)
|
|
|
NM_001009944.3(PKD1):c.4049C>A (p.Thr1350Lys)
|
|
|
NM_001009944.3(PKD1):c.404G>A (p.Trp135Ter)
|
rs1567219111
|
|
NM_001009944.3(PKD1):c.4050G>A (p.Thr1350=)
|
|
|
NM_001009944.3(PKD1):c.4057G>T (p.Gly1353Cys)
|
|
|
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys)
|
rs2092679535
|
|
NM_001009944.3(PKD1):c.4063T>A (p.Phe1355Ile)
|
|
|
NM_001009944.3(PKD1):c.4064_4065dup (p.Pro1356fs)
|
|
|
NM_001009944.3(PKD1):c.4064dup (p.Leu1357fs)
|
|
|
NM_001009944.3(PKD1):c.4066C>T (p.Pro1356Ser)
|
|
|
NM_001009944.3(PKD1):c.4070T>C (p.Leu1357Pro)
|
rs2151798827
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.4072G>C (p.Ala1358Pro)
|
rs1567201469
|
|
NM_001009944.3(PKD1):c.4076T>C (p.Leu1359Pro)
|
rs2544825186
|
|
NM_001009944.3(PKD1):c.4077G>T (p.Leu1359=)
|
|
|
NM_001009944.3(PKD1):c.407T>A (p.Leu136Gln)
|
rs2544883206
|
|
NM_001009944.3(PKD1):c.4081C>G (p.Leu1361Val)
|
|
|
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro)
|
rs2092490160
|
|
NM_001009944.3(PKD1):c.4085C>T (p.Ser1362Phe)
|
|
|
NM_001009944.3(PKD1):c.4093G>A (p.Val1365Met)
|
|
|
NM_001009944.3(PKD1):c.40GGCCTG[1] (p.14GL[1])
|
|
|
NM_001009944.3(PKD1):c.40GGCCTG[3] (p.Leu17_Trp18insGlyLeu)
|
|
|
NM_001009944.3(PKD1):c.4101_4118del (p.Arg1367_Thr1372del)
|
rs2092489106
|
|
NM_001009944.3(PKD1):c.4104G>A (p.Ala1368=)
|
rs745896866
|
|
NM_001009944.3(PKD1):c.4104G>C (p.Ala1368=)
|
rs745896866
|
|
NM_001009944.3(PKD1):c.4105C>G (p.His1369Asp)
|
|
|
NM_001009944.3(PKD1):c.4105dup (p.His1369fs)
|
rs2544824948
|
|
NM_001009944.3(PKD1):c.4109_4120delinsG (p.Tyr1370fs)
|
rs2544824840
|
|
NM_001009944.3(PKD1):c.4110_4113del (p.His1369_Tyr1370insTer)
|
rs1567201338
|
|
NM_001009944.3(PKD1):c.4115C>T (p.Thr1372Ile)
|
|
|
NM_001009944.3(PKD1):c.4115_4117del (p.Thr1372del)
|
|
|
NM_001009944.3(PKD1):c.411G>A (p.Pro137=)
|
|
|
NM_001009944.3(PKD1):c.4120_4122del (p.Ile1374del)
|
|
|
NM_001009944.3(PKD1):c.4121T>A (p.Ile1374Asn)
|
rs2544824821
|
|
NM_001009944.3(PKD1):c.4126G>C (p.Val1376Leu)
|
|
|
NM_001009944.3(PKD1):c.4127T>C (p.Val1376Ala)
|
rs753120006
|
|
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)
|
rs1596591955
|
|
NM_001009944.3(PKD1):c.4135G>T (p.Glu1379Ter)
|
|
|
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly)
|
rs149210297
|
|
NM_001009944.3(PKD1):c.4136A>T (p.Glu1379Val)
|
rs149210297
|
|
NM_001009944.3(PKD1):c.4138_4164del (p.Val1380_Glu1388del)
|
rs2544824510
|
|
NM_001009944.3(PKD1):c.4148T>A (p.Val1383Asp)
|
rs1567201202
|
|
NM_001009944.3(PKD1):c.4154T>G (p.Leu1385Arg)
|
|
|
NM_001009944.3(PKD1):c.4156C>T (p.Gln1386Ter)
|
|
|
NM_001009944.3(PKD1):c.415T>G (p.Trp139Gly)
|
|
|
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs)
|
rs1555456208
|
|
NM_001009944.3(PKD1):c.4168C>T (p.Gln1390Ter)
|
rs2092487764
|
|
NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter)
|
rs2544883158
|
|
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
|
rs2544883158
|
|
NM_001009944.3(PKD1):c.4171T>C (p.Phe1391Leu)
|
|
|
NM_001009944.3(PKD1):c.4173T>A (p.Phe1391Leu)
|
|
|
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter)
|
rs1567201083
|
|
NM_001009944.3(PKD1):c.417G>C (p.Trp139Cys)
|
rs2544883148
|
|
NM_001009944.3(PKD1):c.4180C>T (p.Leu1394Phe)
|
|
|
NM_001009944.3(PKD1):c.4183G>A (p.Gly1395Arg)
|
|
|
NM_001009944.3(PKD1):c.4186del (p.Asp1396fs)
|
|
|
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val)
|
rs1413875287
|
|
NM_001009944.3(PKD1):c.4191G>A (p.Glu1397=)
|
rs1356967038
|
|
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln)
|
|
|
NM_001009944.3(PKD1):c.4196G>A (p.Trp1399Ter)
|
rs2092486975
|
|
NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter)
|
rs890465248
|
|
NM_001009944.3(PKD1):c.4198C>T (p.Leu1400=)
|
|
|
NM_001009944.3(PKD1):c.41G>A (p.Gly14Asp)
|
|
|
NM_001009944.3(PKD1):c.4205C>T (p.Ala1402Val)
|
|
|
NM_001009944.3(PKD1):c.4209T>G (p.Cys1403Trp)
|
|
|
NM_001009944.3(PKD1):c.4210G>A (p.Ala1404Thr)
|
|
|
NM_001009944.3(PKD1):c.4214G>A (p.Trp1405Ter)
|
rs2151798372
|
|
NM_001009944.3(PKD1):c.4217C>T (p.Pro1406Leu)
|
rs1258742494
|
|
NM_001009944.3(PKD1):c.4217_4220dup (p.Phe1408fs)
|
rs754820795
|
|
NM_001009944.3(PKD1):c.4219C>T (p.Pro1407Ser)
|
|
|
NM_001009944.3(PKD1):c.4220dup (p.Phe1408fs)
|
|
|
NM_001009944.3(PKD1):c.4222_4232dup (p.Tyr1412fs)
|
rs2092485909
|
|
NM_001009944.3(PKD1):c.4228T>G (p.Tyr1410Asp)
|
|
|
NM_001009944.3(PKD1):c.4230C>A (p.Tyr1410Ter)
|
rs2544823901
|
|
NM_001009944.3(PKD1):c.4234T>G (p.Tyr1412Asp)
|
|
|
NM_001009944.3(PKD1):c.4235A>C (p.Tyr1412Ser)
|
rs2544823818
|
|
NM_001009944.3(PKD1):c.4240T>G (p.Trp1414Gly)
|
|
|
NM_001009944.3(PKD1):c.4241G>C (p.Trp1414Ser)
|
rs2151798259
|
|
NM_001009944.3(PKD1):c.4242G>A (p.Trp1414Ter)
|
rs2092485664
|
|
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs)
|
rs34495017
|
|
NM_001009944.3(PKD1):c.424G>A (p.Glu142Lys)
|
|
|
NM_001009944.3(PKD1):c.4253C>G (p.Thr1418Ser)
|
|
|
NM_001009944.3(PKD1):c.4253C>T (p.Thr1418Ile)
|
|
|
NM_001009944.3(PKD1):c.4257G>C (p.Glu1419Asp)
|
|
|
NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter)
|
rs1555456139
|
|
NM_001009944.3(PKD1):c.4264del (p.Ala1422fs)
|
rs2544823557
|
|
NM_001009944.3(PKD1):c.4265C>A (p.Ala1422Asp)
|
|
|
NM_001009944.3(PKD1):c.4274G>A (p.Arg1425His)
|
|
|
NM_001009944.3(PKD1):c.4274G>T (p.Arg1425Leu)
|
|
|
NM_001009944.3(PKD1):c.4276_4277delinsA (p.Ala1426fs)
|
rs2092484442
|
|
NM_001009944.3(PKD1):c.4279A>G (p.Arg1427Gly)
|
|
|
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
|
rs2544823369
|
|
NM_001009944.3(PKD1):c.427C>G (p.Gln143Glu)
|
|
|
NM_001009944.3(PKD1):c.4282_4291del (p.Arg1427_Gly1428insTer)
|
rs2544823259
|
|
NM_001009944.3(PKD1):c.4296_4298del (p.Phe1433del)
|
|
|
NM_001009944.3(PKD1):c.4303T>G (p.Tyr1435Asp)
|
|
|
NM_001009944.3(PKD1):c.4304A>G (p.Tyr1435Cys)
|
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4307G>A (p.Arg1436Gln)
|
rs773102552
|
|
NM_001009944.3(PKD1):c.4308_4339del (p.Asp1437fs)
|
rs2544822734
|
|
NM_001009944.3(PKD1):c.4315G>T (p.Gly1439Cys)
|
rs2544823041
|
|
NM_001009944.3(PKD1):c.4319_4321del (p.Ser1440del)
|
rs1567200450
|
|
NM_001009944.3(PKD1):c.4321dup (p.Tyr1441fs)
|
|
|
NM_001009944.3(PKD1):c.4328T>G (p.Val1443Gly)
|
rs2092482898
|
|
NM_001009944.3(PKD1):c.4330A>G (p.Thr1444Ala)
|
|
|
NM_001009944.3(PKD1):c.4333G>A (p.Val1445Ile)
|
|
|
NM_001009944.3(PKD1):c.4340C>A (p.Ala1447Glu)
|
rs76981724
|
|
NM_001009944.3(PKD1):c.4346A>G (p.Asn1449Ser)
|
|
|
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
NM_001009944.3(PKD1):c.4347C>G (p.Asn1449Lys)
|
|
|
NM_001009944.3(PKD1):c.4369_4370del (p.Ala1458fs)
|
rs2092481936
|
|
NM_001009944.3(PKD1):c.436C>G (p.Arg146Gly)
|
|
|
NM_001009944.3(PKD1):c.4370C>G (p.Ser1457Ter)
|
|
|
NM_001009944.3(PKD1):c.4370C>T (p.Ser1457Leu)
|
|
|
NM_001009944.3(PKD1):c.4373C>T (p.Ala1458Val)
|
rs2151797690
|
|
NM_001009944.3(PKD1):c.4379T>C (p.Val1460Ala)
|
rs2151797664
|
|
NM_001009944.3(PKD1):c.4379T>G (p.Val1460Gly)
|
rs2151797664
|
|
NM_001009944.3(PKD1):c.4379dup (p.Glu1461fs)
|
rs2544822303
|
|
NM_001009944.3(PKD1):c.437G>C (p.Arg146Pro)
|
|
|
NM_001009944.3(PKD1):c.4388A>C (p.Gln1463Pro)
|
|
|
NM_001009944.3(PKD1):c.4390G>T (p.Glu1464Ter)
|
|
|
NM_001009944.3(PKD1):c.4391A>T (p.Glu1464Val)
|
|
|
NM_001009944.3(PKD1):c.4394C>T (p.Pro1465Leu)
|
rs777140825
|
|
NM_001009944.3(PKD1):c.4396G>A (p.Val1466Met)
|
|
|
NM_001009944.3(PKD1):c.4396G>C (p.Val1466Leu)
|
|
|
NM_001009944.3(PKD1):c.4397T>A (p.Val1466Glu)
|
|
|
NM_001009944.3(PKD1):c.4399C>A (p.Leu1467Met)
|
|
|
NM_001009944.3(PKD1):c.439del (p.Val147fs)
|
|
|
NM_001009944.3(PKD1):c.439dup (p.Val147fs)
|
rs2092679105
|
|
NM_001009944.3(PKD1):c.43_62del (p.Leu15fs)
|
|
|
NM_001009944.3(PKD1):c.4418T>C (p.Val1473Ala)
|
|
|
NM_001009944.3(PKD1):c.4419del (p.Asn1474fs)
|
rs2151797547
|
|
NM_001009944.3(PKD1):c.4441C>A (p.Leu1481Met)
|
|
|
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)
|
rs1567200117
|
|
NM_001009944.3(PKD1):c.4448A>C (p.Gln1483Pro)
|
|
|
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=)
|
rs201988915
|
|
NM_001009944.3(PKD1):c.4452del (p.Tyr1485fs)
|
rs2092479999
|
|
NM_001009944.3(PKD1):c.4455C>G (p.Tyr1485Ter)
|
|
|
NM_001009944.3(PKD1):c.4456C>T (p.Leu1486=)
|
rs1327407759
|
|
NM_001009944.3(PKD1):c.4457T>C (p.Leu1486Pro)
|
|
|
NM_001009944.3(PKD1):c.4459T>C (p.Phe1487Leu)
|
|
|
NM_001009944.3(PKD1):c.445C>T (p.Gln149Ter)
|
rs2544883033
|
|
NM_001009944.3(PKD1):c.445del (p.Gln149fs)
|
rs796052133
|
|
NM_001009944.3(PKD1):c.4460T>C (p.Phe1487Ser)
|
|
|
NM_001009944.3(PKD1):c.4460_4469del (p.Phe1487fs)
|
|
|
NM_001009944.3(PKD1):c.4461del (p.Ser1488fs)
|
rs1555455998
|
|
NM_001009944.3(PKD1):c.4462T>A (p.Ser1488Thr)
|
|
|
NM_001009944.3(PKD1):c.4462T>C (p.Ser1488Pro)
|
rs773746552
|
|
NM_001009944.3(PKD1):c.4465G>A (p.Ala1489Thr)
|
rs1434867748
|
|
NM_001009944.3(PKD1):c.4466C>T (p.Ala1489Val)
|
|
|
NM_001009944.3(PKD1):c.4474C>T (p.Arg1492Cys)
|
|
|
NM_001009944.3(PKD1):c.4475G>A (p.Arg1492His)
|
rs757055929
|
|
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro)
|
rs757055929
|
|
NM_001009944.3(PKD1):c.4485dup (p.Ala1496fs)
|
rs2092478837
|
|
NM_001009944.3(PKD1):c.4490G>A (p.Ser1497Asn)
|
|
|
NM_001009944.3(PKD1):c.4493A>C (p.Tyr1498Ser)
|
|
|
NM_001009944.3(PKD1):c.4493A>G (p.Tyr1498Cys)
|
rs2544821178
|
|
NM_001009944.3(PKD1):c.4494C>G (p.Tyr1498Ter)
|
|
|
NM_001009944.3(PKD1):c.4499G>A (p.Trp1500Ter)
|
|
|
NM_001009944.3(PKD1):c.44T>G (p.Leu15Arg)
|
|
|
NM_001009944.3(PKD1):c.4500G>C (p.Trp1500Cys)
|
rs773515214
|
|
NM_001009944.3(PKD1):c.4506G>A (p.Leu1502=)
|
|
|
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg)
|
rs2092478372
|
|
NM_001009944.3(PKD1):c.4509_4518del (p.Asp1504fs)
|
|
|
NM_001009944.3(PKD1):c.4510del (p.Asp1504fs)
|
rs2544821112
|
|
NM_001009944.3(PKD1):c.4511del (p.Asp1504fs)
|
|
|
NM_001009944.3(PKD1):c.4515_4517del (p.Gly1506del)
|
rs2544821047
|
|
NM_001009944.3(PKD1):c.4520G>A (p.Trp1507Ter)
|
|
|
NM_001009944.3(PKD1):c.4521G>A (p.Trp1507Ter)
|
rs2544821034
|
|
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)
|
rs144200494
|
|
NM_001009944.3(PKD1):c.4525G>A (p.Glu1509Lys)
|
|
|
NM_001009944.3(PKD1):c.4531C>A (p.Pro1511Thr)
|
|
|
NM_001009944.3(PKD1):c.4534G>T (p.Glu1512Ter)
|
|
|
NM_001009944.3(PKD1):c.4538T>G (p.Val1513Gly)
|
|
|
NM_001009944.3(PKD1):c.453G>C (p.Glu151Asp)
|
|
|
NM_001009944.3(PKD1):c.4543C>G (p.His1515Asp)
|
|
|
NM_001009944.3(PKD1):c.4544A>C (p.His1515Pro)
|
rs2092477293
|
|
NM_001009944.3(PKD1):c.454G>A (p.Ala152Thr)
|
rs1567218996
|
|
NM_001009944.3(PKD1):c.4550A>G (p.Tyr1517Cys)
|
|
|
NM_001009944.3(PKD1):c.4550dup (p.Tyr1517Ter)
|
rs2092477162
|
|
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4551C>T (p.Tyr1517=)
|
|
|
NM_001009944.3(PKD1):c.4557C>T (p.Ser1519=)
|
|
|
NM_001009944.3(PKD1):c.4572_4574del (p.Val1525del)
|
rs2544820567
|
|
NM_001009944.3(PKD1):c.4573G>A (p.Val1525Ile)
|
|
|
NM_001009944.3(PKD1):c.4577G>C (p.Arg1526Thr)
|
|
|
NM_001009944.3(PKD1):c.4582G>C (p.Ala1528Pro)
|
|
|
NM_001009944.3(PKD1):c.4585G>A (p.Gly1529Ser)
|
|
|
NM_001009944.3(PKD1):c.4585G>T (p.Gly1529Cys)
|
|
|
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.4590G>C (p.Trp1530Cys)
|
rs996127355
|
|
NM_001009944.3(PKD1):c.4592A>G (p.Asn1531Ser)
|
rs2092476327
|
|
NM_001009944.3(PKD1):c.4597G>T (p.Val1533Leu)
|
|
|
NM_001009944.3(PKD1):c.4598T>A (p.Val1533Glu)
|
|
|
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.4607G>A (p.Ser1536Asn)
|
|
|
NM_001009944.3(PKD1):c.4612G>C (p.Ala1538Pro)
|
|
|
NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter)
|
rs1596558405
|
|
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter)
|
rs2151796950
|
|
NM_001009944.3(PKD1):c.4619T>C (p.Leu1540Pro)
|
|
|
NM_001009944.3(PKD1):c.4620C>G (p.Leu1540=)
|
|
|
NM_001009944.3(PKD1):c.4622A>G (p.Asn1541Ser)
|
rs1348286032
|
|
NM_001009944.3(PKD1):c.4623T>C (p.Asn1541=)
|
|
|
NM_001009944.3(PKD1):c.4625T>G (p.Val1542Gly)
|
rs2092475450
|
|
NM_001009944.3(PKD1):c.4625_4626del (p.Val1542fs)
|
|
|
NM_001009944.3(PKD1):c.4628C>T (p.Thr1543Met)
|
|
|
NM_001009944.3(PKD1):c.4629G>A (p.Thr1543=)
|
|
|
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)
|
rs2544820023
|
|
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly)
|
rs1555455904
|
|
NM_001009944.3(PKD1):c.4639C>T (p.Arg1547Cys)
|
|
|
NM_001009944.3(PKD1):c.4639dup (p.Arg1547fs)
|
|
|
NM_001009944.3(PKD1):c.4640G>A (p.Arg1547His)
|
|
|
NM_001009944.3(PKD1):c.4640G>C (p.Arg1547Pro)
|
rs771904569
|
|
NM_001009944.3(PKD1):c.4645C>T (p.Arg1549Trp)
|
|
|
NM_001009944.3(PKD1):c.4646G>C (p.Arg1549Pro)
|
rs530555146
|
|
NM_001009944.3(PKD1):c.464G>A (p.Cys155Tyr)
|
|
|
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs)
|
rs2092474542
|
|
NM_001009944.3(PKD1):c.4651C>T (p.Leu1551Phe)
|
|
|
NM_001009944.3(PKD1):c.4651del (p.Leu1551fs)
|
rs2544819817
|
|
NM_001009944.3(PKD1):c.4653C>T (p.Leu1551=)
|
|
|
NM_001009944.3(PKD1):c.4654GTC[1] (p.Val1553del)
|
rs1362745259
|
|
NM_001009944.3(PKD1):c.4654del (p.Val1552fs)
|
rs2047525622
|
|
NM_001009944.3(PKD1):c.4665A>T (p.Ala1555=)
|
|
|
NM_001009944.3(PKD1):c.4667G>C (p.Ser1556Thr)
|
|
|
NM_001009944.3(PKD1):c.466G>T (p.Ala156Ser)
|
|
|
NM_001009944.3(PKD1):c.4670G>T (p.Arg1557Leu)
|
|
|
NM_001009944.3(PKD1):c.4675GTG[1] (p.Val1560del)
|
rs2544819483
|
|
NM_001009944.3(PKD1):c.4677G>A (p.Val1559=)
|
|
|
NM_001009944.3(PKD1):c.4684C>G (p.Leu1562Val)
|
|
|
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=)
|
rs114489044
|
|
NM_001009944.3(PKD1):c.4691G>T (p.Gly1564Val)
|
|
|
NM_001009944.3(PKD1):c.4696_4701del (p.Val1566_Ser1567del)
|
|
|
NM_001009944.3(PKD1):c.4697_4698del (p.Val1566fs)
|
rs2544819296
|
|
NM_001009944.3(PKD1):c.4704C>A (p.Phe1568Leu)
|
|
|
NM_001009944.3(PKD1):c.4709C>G (p.Thr1570Arg)
|
|
|
NM_001009944.3(PKD1):c.4709del (p.Thr1570fs)
|
rs1555455797
|
|
NM_001009944.3(PKD1):c.4712C>A (p.Ser1571Ter)
|
|
|
NM_001009944.3(PKD1):c.4712C>T (p.Ser1571Leu)
|
|
|
NM_001009944.3(PKD1):c.471_478dup (p.Ser160fs)
|
rs2544882902
|
|
NM_001009944.3(PKD1):c.4720G>A (p.Ala1574Thr)
|
rs767157522
|
|
NM_001009944.3(PKD1):c.4729G>A (p.Asp1577Asn)
|
rs770989260
|
|
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs)
|
rs2151796475
|
|
NM_001009944.3(PKD1):c.4745G>A (p.Trp1582Ter)
|
rs2544818887
|
|
NM_001009944.3(PKD1):c.4746G>T (p.Trp1582Cys)
|
|
|
NM_001009944.3(PKD1):c.4749_4751delinsAGCGCTATTC (p.Leu1584fs)
|
|
|
NM_001009944.3(PKD1):c.4753del (p.Cys1585fs)
|
|
|
NM_001009944.3(PKD1):c.4755_4756del (p.Cys1585_Asp1586delinsTer)
|
|
|
NM_001009944.3(PKD1):c.4756G>A (p.Asp1586Asn)
|
rs770968964
|
|
NM_001009944.3(PKD1):c.4766C>T (p.Thr1589Met)
|
|
|
NM_001009944.3(PKD1):c.4774C>T (p.Pro1592Ser)
|
|
|
NM_001009944.3(PKD1):c.4780G>T (p.Gly1594Cys)
|
|
|
NM_001009944.3(PKD1):c.4781G>T (p.Gly1594Val)
|
rs1754104193
|
|
NM_001009944.3(PKD1):c.4782del (p.Pro1595fs)
|
rs2092471431
|
|
NM_001009944.3(PKD1):c.4793C>T (p.Ser1598Phe)
|
|
|
NM_001009944.3(PKD1):c.4793_4794del (p.Ser1598fs)
|
|
|
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
|
rs2544818419
|
|
NM_001009944.3(PKD1):c.4796dup (p.Tyr1599Ter)
|
rs1596557742
|
|
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter)
|
rs202110519
|
|
NM_001009944.3(PKD1):c.4797C>G (p.Tyr1599Ter)
|
|
|
NM_001009944.3(PKD1):c.4799C>G (p.Thr1600Ser)
|
|
|
NM_001009944.3(PKD1):c.4799C>T (p.Thr1600Ile)
|
|
|
NM_001009944.3(PKD1):c.479_486dup (p.Gly163fs)
|
|
|
NM_001009944.3(PKD1):c.4808C>T (p.Ser1603Phe)
|
rs2544818283
|
|
NM_001009944.3(PKD1):c.4810G>C (p.Val1604Leu)
|
|
|
NM_001009944.3(PKD1):c.4818del (p.Phe1607fs)
|
|
|
NM_001009944.3(PKD1):c.4824T>C (p.Asn1608=)
|
rs569136450
|
|
NM_001009944.3(PKD1):c.4824_4826dup (p.Ile1610dup)
|
rs2151796171
|
|
NM_001009944.3(PKD1):c.4825A>G (p.Ile1609Val)
|
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.4825dup (p.Ile1609fs)
|
|
|
NM_001009944.3(PKD1):c.4826T>G (p.Ile1609Ser)
|
|
|
NM_001009944.3(PKD1):c.4831G>T (p.Val1611Phe)
|
|
|
NM_001009944.3(PKD1):c.4832_4836dup (p.Ala1613fs)
|
rs1596557533
|
|
NM_001009944.3(PKD1):c.4835_4839delinsGATGATACTGAA (p.Thr1612_Ala1613delinsArgTer)
|
|
|
NM_001009944.3(PKD1):c.4838C>A (p.Ala1613Asp)
|
|
|
NM_001009944.3(PKD1):c.4840G>A (p.Glu1614Lys)
|
|
|
NM_001009944.3(PKD1):c.4843A>G (p.Asn1615Asp)
|
rs2151796056
|
|
NM_001009944.3(PKD1):c.4846G>A (p.Glu1616Lys)
|
|
|
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter)
|
rs566014072
|
|
NM_001009944.3(PKD1):c.4850T>C (p.Val1617Ala)
|
|
|
NM_001009944.3(PKD1):c.4855T>C (p.Ser1619Pro)
|
|
|
NM_001009944.3(PKD1):c.4857del (p.Ala1620fs)
|
rs2544817791
|
|
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)
|
rs1264176877
|
|
NM_001009944.3(PKD1):c.4868_4869dup (p.Ile1624fs)
|
|
|
NM_001009944.3(PKD1):c.486T>A (p.Ala162=)
|
|
|
NM_001009944.3(PKD1):c.4880A>G (p.Tyr1627Cys)
|
|
|
NM_001009944.3(PKD1):c.4880_4883del (p.Tyr1627fs)
|
|
|
NM_001009944.3(PKD1):c.4881T>A (p.Tyr1627Ter)
|
|
|
NM_001009944.3(PKD1):c.4882G>A (p.Val1628Ile)
|
|
|
NM_001009944.3(PKD1):c.4884C>T (p.Val1628=)
|
|
|
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
|
rs2544817521
|
|
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val)
|
rs1282205691
|
|
NM_001009944.3(PKD1):c.4894A>T (p.Ile1632Leu)
|
|
|
NM_001009944.3(PKD1):c.4894_4901dup (p.Gly1634_Leu1635insTer)
|
rs1567198410
|
|
NM_001009944.3(PKD1):c.4895_4896del (p.Ile1632fs)
|
rs2544817442
|
|
NM_001009944.3(PKD1):c.4896dup (p.Glu1633fs)
|
|
|
NM_001009944.3(PKD1):c.4897G>T (p.Glu1633Ter)
|
rs773744181
|
|
NM_001009944.3(PKD1):c.4898del (p.Glu1633fs)
|
rs2544817396
|
|
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)
|
rs1596557266
|
|
NM_001009944.3(PKD1):c.4910T>G (p.Val1637Gly)
|
rs1200234003
|
|
NM_001009944.3(PKD1):c.4910_4916dup (p.Tyr1643fs)
|
|
|
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)
|
rs2544817124
|
|
NM_001009944.3(PKD1):c.491del (p.Gln164fs)
|
rs2151825169
|
|
NM_001009944.3(PKD1):c.4922G>T (p.Gly1641Val)
|
|
|
NM_001009944.3(PKD1):c.4923C>T (p.Gly1641=)
|
|
|
NM_001009944.3(PKD1):c.4924C>T (p.Arg1642Cys)
|
|
|
NM_001009944.3(PKD1):c.4929C>G (p.Tyr1643Ter)
|
rs752948922
|
|
NM_001009944.3(PKD1):c.4929C>T (p.Tyr1643=)
|
rs752948922
|
|
NM_001009944.3(PKD1):c.4930T>G (p.Phe1644Val)
|
|
|
NM_001009944.3(PKD1):c.4935del (p.Thr1646fs)
|
|
|
NM_001009944.3(PKD1):c.493C>T (p.Pro165Ser)
|
|
|
NM_001009944.3(PKD1):c.4941C>G (p.Asn1647Lys)
|
rs572889542
|
|
NM_001009944.3(PKD1):c.4947G>A (p.Thr1649=)
|
|
|
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)
|
rs1596557065
|
|
NM_001009944.3(PKD1):c.4957dup (p.Gln1653fs)
|
|
|
NM_001009944.3(PKD1):c.4962C>T (p.Ala1654=)
|
|
|
NM_001009944.3(PKD1):c.4963G>A (p.Val1655Met)
|
rs149671582
|
|
NM_001009944.3(PKD1):c.4963G>T (p.Val1655Leu)
|
rs149671582
|
|
NM_001009944.3(PKD1):c.4968T>C (p.Val1656=)
|
rs777909326
|
|
NM_001009944.3(PKD1):c.496C>T (p.Leu166=)
|
|
|
NM_001009944.3(PKD1):c.4979C>G (p.Thr1660Ser)
|
rs1163036590
|
|
NM_001009944.3(PKD1):c.497T>C (p.Leu166Pro)
|
|
|
NM_001009944.3(PKD1):c.4981A>G (p.Asn1661Asp)
|
|
|
NM_001009944.3(PKD1):c.4981_4983del (p.Asn1661del)
|
|
|
NM_001009944.3(PKD1):c.4982A>T (p.Asn1661Ile)
|
rs1440789964
|
|
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile)
|
rs766683298
|
|
NM_001009944.3(PKD1):c.4985T>A (p.Val1662Asp)
|
rs2544816535
|
|
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)
|
rs1596556896
|
|
NM_001009944.3(PKD1):c.4995C>G (p.Ser1665Arg)
|
|
|
NM_001009944.3(PKD1):c.4995del (p.Trp1666fs)
|
rs2151795458
|
|
NM_001009944.3(PKD1):c.4996T>C (p.Trp1666Arg)
|
|
|
NM_001009944.3(PKD1):c.4997G>C (p.Trp1666Ser)
|
rs2544816405
|
|
NM_001009944.3(PKD1):c.4999A>G (p.Thr1667Ala)
|
|
|
NM_001009944.3(PKD1):c.499del (p.Gly168fs)
|
rs2151825150
|
|
NM_001009944.3(PKD1):c.5002G>C (p.Ala1668Pro)
|
|
|
NM_001009944.3(PKD1):c.5005T>G (p.Trp1669Gly)
|
rs774984754
|
|
NM_001009944.3(PKD1):c.5006G>A (p.Trp1669Ter)
|
rs769439901
|
|
NM_001009944.3(PKD1):c.5012_5017del (p.Asp1671_Arg1672del)
|
|
|
NM_001009944.3(PKD1):c.5013C>A (p.Asp1671Glu)
|
|
|
NM_001009944.3(PKD1):c.5014A>G (p.Arg1672Gly)
|
|
|
NM_001009944.3(PKD1):c.5014delinsGG (p.Arg1672fs)
|
|
|
NM_001009944.3(PKD1):c.5015G>C (p.Arg1672Thr)
|
|
|
NM_001009944.3(PKD1):c.5018del (p.Gly1673fs)
|
rs1596556800
|
|
NM_001009944.3(PKD1):c.5021C>T (p.Pro1674Leu)
|
|
|
NM_001009944.3(PKD1):c.5021del (p.Pro1674fs)
|
rs1555455453
|
|
NM_001009944.3(PKD1):c.5024C>T (p.Ala1675Val)
|
|
|
NM_001009944.3(PKD1):c.5028G>A (p.Leu1676=)
|
rs2092461515
|
|
NM_001009944.3(PKD1):c.5031C>T (p.Ala1677=)
|
rs551270517
|
|
NM_001009944.3(PKD1):c.5034dup (p.Ser1679fs)
|
rs2544815998
|
|
NM_001009944.3(PKD1):c.5036G>A (p.Ser1679Asn)
|
rs756419129
|
|
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg)
|
rs144091742
|
|
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=)
|
rs144091742
|
|
NM_001009944.3(PKD1):c.5042A>G (p.Lys1681Arg)
|
|
|
NM_001009944.3(PKD1):c.5047_5051del (p.Phe1683fs)
|
rs2092460746
|
|
NM_001009944.3(PKD1):c.5052G>A (p.Ser1684=)
|
|
|
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter)
|
rs534630703
|
|
NM_001009944.3(PKD1):c.5069C>T (p.Ala1690Val)
|
|
|
NM_001009944.3(PKD1):c.5078A>C (p.Tyr1693Ser)
|
|
|
NM_001009944.3(PKD1):c.5080del (p.His1694fs)
|
rs2092460002
|
|
NM_001009944.3(PKD1):c.5081A>G (p.His1694Arg)
|
|
|
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)
|
rs1057518783
|
|
NM_001009944.3(PKD1):c.5092C>T (p.Arg1698Trp)
|
rs141871028
|
|
NM_001009944.3(PKD1):c.5093G>C (p.Arg1698Pro)
|
rs569887918
|
|
NM_001009944.3(PKD1):c.5099C>G (p.Thr1700Ser)
|
|
|
NM_001009944.3(PKD1):c.509C>G (p.Pro170Arg)
|
|
|
NM_001009944.3(PKD1):c.5108T>C (p.Leu1703Pro)
|
rs1596556474
|
|
NM_001009944.3(PKD1):c.510C>T (p.Pro170=)
|
rs1052336192
|
|
NM_001009944.3(PKD1):c.5115del (p.Ser1705fs)
|
rs2544815125
|
|
NM_001009944.3(PKD1):c.5116G>C (p.Ala1706Pro)
|
|
|
NM_001009944.3(PKD1):c.512T>A (p.Leu171Ter)
|
rs2544882746
|
|
NM_001009944.3(PKD1):c.5130_5146dup (p.Glu1716fs)
|
|
|
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs)
|
rs1596556375
|
|
NM_001009944.3(PKD1):c.5142del (p.Phe1714fs)
|
rs2092458566
|
|
NM_001009944.3(PKD1):c.5143G>A (p.Val1715Met)
|
|
|
NM_001009944.3(PKD1):c.5146G>C (p.Glu1716Gln)
|
rs1402010938
|
|
NM_001009944.3(PKD1):c.5146del (p.Glu1716fs)
|
|
|
NM_001009944.3(PKD1):c.5150C>T (p.Pro1717Leu)
|
|
|
NM_001009944.3(PKD1):c.5155G>C (p.Gly1719Arg)
|
rs2544814581
|
|
NM_001009944.3(PKD1):c.5159G>A (p.Trp1720Ter)
|
rs2151794620
|
|
NM_001009944.3(PKD1):c.515_516dup (p.Asp173fs)
|
|
|
NM_001009944.3(PKD1):c.5160G>A (p.Trp1720Ter)
|
|
|
NM_001009944.3(PKD1):c.5161del (p.Trp1720_Leu1721insTer)
|
rs2544814541
|
|
NM_001009944.3(PKD1):c.5167dup (p.Val1723fs)
|
rs2544814470
|
|
NM_001009944.3(PKD1):c.5168T>G (p.Val1723Gly)
|
rs890082891
|
|
NM_001009944.3(PKD1):c.516G>C (p.Leu172=)
|
|
|
NM_001009944.3(PKD1):c.5178C>T (p.Ser1726=)
|
|
|
NM_001009944.3(PKD1):c.5179C>G (p.Pro1727Ala)
|
|
|
NM_001009944.3(PKD1):c.5181G>A (p.Pro1727=)
|
|
|
NM_001009944.3(PKD1):c.5186C>T (p.Pro1729Leu)
|
|
|
NM_001009944.3(PKD1):c.5194G>A (p.Val1732Ile)
|
|
|
NM_001009944.3(PKD1):c.5207_5209delinsGCC (p.Val1736_Thr1737delinsGlyPro)
|
rs2544814037
|
|
NM_001009944.3(PKD1):c.5212C>G (p.Leu1738Val)
|
rs960035220
|
|
NM_001009944.3(PKD1):c.5213T>G (p.Leu1738Arg)
|
|
|
NM_001009944.3(PKD1):c.5216G>A (p.Ser1739Asn)
|
rs772457591
|
|
NM_001009944.3(PKD1):c.5219C>T (p.Ala1740Val)
|
rs2544813911
|
|
NM_001009944.3(PKD1):c.521G>C (p.Ser174Thr)
|
|
|
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter)
|
rs2092456617
|
|
NM_001009944.3(PKD1):c.5223G>A (p.Glu1741=)
|
rs779556506
|
|
NM_001009944.3(PKD1):c.5229_5235del (p.Gly1744fs)
|
|
|
NM_001009944.3(PKD1):c.5230G>T (p.Gly1744Cys)
|
rs2544813806
|
|
NM_001009944.3(PKD1):c.5244C>G (p.Val1748=)
|
|
|
NM_001009944.3(PKD1):c.5244_5246del (p.Val1749del)
|
rs2544813702
|
|
NM_001009944.3(PKD1):c.5245G>C (p.Val1749Leu)
|
|
|
NM_001009944.3(PKD1):c.5245del (p.Val1749fs)
|
rs1555455279
|
|
NM_001009944.3(PKD1):c.5249A>G (p.Tyr1750Cys)
|
|
|
NM_001009944.3(PKD1):c.5252C>T (p.Thr1751Ile)
|
|
|
NM_001009944.3(PKD1):c.5254T>C (p.Trp1752Arg)
|
rs2151794130
|
|
NM_001009944.3(PKD1):c.5255G>A (p.Trp1752Ter)
|
|
|
NM_001009944.3(PKD1):c.5262G>T (p.Leu1754Phe)
|
|
|
NM_001009944.3(PKD1):c.5266G>T (p.Glu1756Ter)
|
|
|
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu)
|
rs770462764
|
|
NM_001009944.3(PKD1):c.5271del (p.Gly1757_Leu1758insTer)
|
|
|
NM_001009944.3(PKD1):c.5272del (p.Gly1757_Leu1758insTer)
|
|
|
NM_001009944.3(PKD1):c.5279G>A (p.Trp1760Ter)
|
rs1596555896
|
|
NM_001009944.3(PKD1):c.5281G>C (p.Glu1761Gln)
|
|
|
NM_001009944.3(PKD1):c.5287T>C (p.Ser1763Pro)
|
|
|
NM_001009944.3(PKD1):c.529+19G>T
|
|
|
NM_001009944.3(PKD1):c.529+1G>A
|
|
|
NM_001009944.3(PKD1):c.529+3G>C
|
|
|
NM_001009944.3(PKD1):c.529+5G>A
|
rs2544882689
|
|
NM_001009944.3(PKD1):c.5290G>T (p.Glu1764Ter)
|
rs753749502
|
|
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu)
|
rs577487876
|
|
NM_001009944.3(PKD1):c.52T>C (p.Trp18Arg)
|
|
|
NM_001009944.3(PKD1):c.530-27_530-26dup
|
|
|
NM_001009944.3(PKD1):c.530-4C>G
|
|
|
NM_001009944.3(PKD1):c.5301C>T (p.Thr1767=)
|
|
|
NM_001009944.3(PKD1):c.5301del (p.Thr1768fs)
|
rs2092454886
|
|
NM_001009944.3(PKD1):c.5305C>T (p.His1769Tyr)
|
|
|
NM_001009944.3(PKD1):c.5307T>G (p.His1769Gln)
|
rs575064371
|
|
NM_001009944.3(PKD1):c.5310C>T (p.Ser1770=)
|
|
|
NM_001009944.3(PKD1):c.5321C>A (p.Pro1774His)
|
|
|
NM_001009944.3(PKD1):c.5322C>T (p.Pro1774=)
|
|
|
NM_001009944.3(PKD1):c.5323G>A (p.Gly1775Ser)
|
|
|
NM_001009944.3(PKD1):c.5329C>T (p.His1777Tyr)
|
rs2092454105
|
|
NM_001009944.3(PKD1):c.5330A>C (p.His1777Pro)
|
|
|
NM_001009944.3(PKD1):c.5332_5333delinsACCCGGCCCCACACCCGGCC (p.Leu1778delinsThrArgProHisThrArgPro)
|
rs2544813080
|
|
NM_001009944.3(PKD1):c.5339C>T (p.Thr1780Ile)
|
|
|
NM_001009944.3(PKD1):c.5341A>G (p.Met1781Val)
|
|
|
NM_001009944.3(PKD1):c.5346G>A (p.Thr1782=)
|
|
|
NM_001009944.3(PKD1):c.5347G>A (p.Ala1783Thr)
|
|
|
NM_001009944.3(PKD1):c.5351G>A (p.Gly1784Glu)
|
|
|
NM_001009944.3(PKD1):c.5357C>A (p.Pro1786Gln)
|
|
|
NM_001009944.3(PKD1):c.5364del (p.Ser1789fs)
|
rs2544812863
|
|
NM_001009944.3(PKD1):c.5366C>A (p.Ser1789Ter)
|
rs1377414968
|
|
NM_001009944.3(PKD1):c.5366C>G (p.Ser1789Ter)
|
rs1377414968
|
|
NM_001009944.3(PKD1):c.5369C>T (p.Ala1790Val)
|
|
|
NM_001009944.3(PKD1):c.5372A>C (p.Asn1791Thr)
|
rs1335408319
|
|
NM_001009944.3(PKD1):c.5372del (p.Asn1791fs)
|
|
|
NM_001009944.3(PKD1):c.5380G>A (p.Val1794Met)
|
|
|
NM_001009944.3(PKD1):c.5390A>G (p.Asp1797Gly)
|
|
|
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter)
|
rs2092452489
|
|
NM_001009944.3(PKD1):c.539A>G (p.Tyr180Cys)
|
rs2544881154
|
|
NM_001009944.3(PKD1):c.5401C>A (p.Pro1801Thr)
|
rs766934384
|
|
NM_001009944.3(PKD1):c.5411del (p.Gly1804fs)
|
rs1596555413
|
|
NM_001009944.3(PKD1):c.5413_5453del (p.Leu1805fs)
|
|
|
NM_001009944.3(PKD1):c.5413del (p.Leu1805fs)
|
rs2092452089
|
|
NM_001009944.3(PKD1):c.5414T>A (p.Leu1805His)
|
|
|
NM_001009944.3(PKD1):c.5416A>G (p.Ser1806Gly)
|
|
|
NM_001009944.3(PKD1):c.541_542dup (p.Ala182fs)
|
|
|
NM_001009944.3(PKD1):c.5437G>A (p.Gly1813Arg)
|
|
|
NM_001009944.3(PKD1):c.5437G>T (p.Gly1813Ter)
|
|
|
NM_001009944.3(PKD1):c.5445C>A (p.Ser1815Arg)
|
|
|
NM_001009944.3(PKD1):c.5448C>G (p.Phe1816Leu)
|
|
|
NM_001009944.3(PKD1):c.545C>A (p.Ala182Asp)
|
rs1381593674
|
|
NM_001009944.3(PKD1):c.5462C>T (p.Ser1821Phe)
|
rs2092450904
|
|
NM_001009944.3(PKD1):c.5465C>G (p.Ser1822Cys)
|
|
|
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter)
|
rs2544812084
|
|
NM_001009944.3(PKD1):c.5481dup (p.Gln1828fs)
|
rs1596555170
|
|
NM_001009944.3(PKD1):c.5482C>T (p.Gln1828Ter)
|
|
|
NM_001009944.3(PKD1):c.548G>A (p.Cys183Tyr)
|
|
|
NM_001009944.3(PKD1):c.548G>T (p.Cys183Phe)
|
|
|
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser)
|
rs2151792963
|
|
NM_001009944.3(PKD1):c.5495G>T (p.Gly1832Val)
|
rs2544812034
|
|
NM_001009944.3(PKD1):c.5497A>C (p.Thr1833Pro)
|
rs1475056804
|
|
NM_001009944.3(PKD1):c.5499C>T (p.Thr1833=)
|
|
|
NM_001009944.3(PKD1):c.5508C>G (p.Ser1836Arg)
|
|
|
NM_001009944.3(PKD1):c.5509T>C (p.Trp1837Arg)
|
rs2544811921
|
|
NM_001009944.3(PKD1):c.5509T>G (p.Trp1837Gly)
|
|
|
NM_001009944.3(PKD1):c.550C>G (p.Leu184Val)
|
|
|
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter)
|
rs2092450284
|
|
NM_001009944.3(PKD1):c.5515T>A (p.Trp1839Arg)
|
|
|
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
|
|
|
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)
|
rs2544811872
|
|
NM_001009944.3(PKD1):c.5517G>A (p.Trp1839Ter)
|
|
|
NM_001009944.3(PKD1):c.5530G>A (p.Gly1844Ser)
|
|
|
NM_001009944.3(PKD1):c.5530G>C (p.Gly1844Arg)
|
|
|
NM_001009944.3(PKD1):c.5541G>A (p.Lys1847=)
|
rs2544811649
|
|
NM_001009944.3(PKD1):c.5542C>T (p.Arg1848Cys)
|
|
|
NM_001009944.3(PKD1):c.5546G>A (p.Gly1849Asp)
|
|
|
NM_001009944.3(PKD1):c.5549C>T (p.Pro1850Leu)
|
|
|
NM_001009944.3(PKD1):c.5549del (p.Pro1850fs)
|
|
|
NM_001009944.3(PKD1):c.554C>T (p.Pro185Leu)
|
|
|
NM_001009944.3(PKD1):c.5551C>T (p.His1851Tyr)
|
rs2544811590
|
|
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs)
|
rs1567196314
|
|
NM_001009944.3(PKD1):c.5553_5557del (p.Val1852fs)
|
rs2544811526
|
|
NM_001009944.3(PKD1):c.5554G>A (p.Val1852Ile)
|
|
|
NM_001009944.3(PKD1):c.5557A>G (p.Thr1853Ala)
|
rs1064797206
|
|
NM_001009944.3(PKD1):c.5558C>A (p.Thr1853Asn)
|
|
|
NM_001009944.3(PKD1):c.5558C>T (p.Thr1853Ile)
|
|
|
NM_001009944.3(PKD1):c.5560A>C (p.Met1854Leu)
|
|
|
NM_001009944.3(PKD1):c.5565C>T (p.Val1855=)
|
rs1002703427
|
|
NM_001009944.3(PKD1):c.5569C>T (p.Pro1857Ser)
|
|
|
NM_001009944.3(PKD1):c.556G>C (p.Asp186His)
|
|
|
NM_001009944.3(PKD1):c.5575G>A (p.Ala1859Thr)
|
rs773158555
|
|
NM_001009944.3(PKD1):c.5576C>T (p.Ala1859Val)
|
rs767312175
|
|
NM_001009944.3(PKD1):c.5580C>T (p.Gly1860=)
|
|
|
NM_001009944.3(PKD1):c.5583C>T (p.Thr1861=)
|
|
|
NM_001009944.3(PKD1):c.5587_5588del (p.Ser1863fs)
|
|
|
NM_001009944.3(PKD1):c.5590A>G (p.Ile1864Val)
|
|
|
NM_001009944.3(PKD1):c.5592C>G (p.Ile1864Met)
|
|
|
NM_001009944.3(PKD1):c.5594G>C (p.Arg1865Pro)
|
|
|
NM_001009944.3(PKD1):c.55C>T (p.Leu19Phe)
|
rs2151858362
|
|
NM_001009944.3(PKD1):c.5600A>C (p.Asn1867Thr)
|
|
|
NM_001009944.3(PKD1):c.5602G>C (p.Ala1868Pro)
|
rs753398195
|
|
NM_001009944.3(PKD1):c.5602G>T (p.Ala1868Ser)
|
|
|
NM_001009944.3(PKD1):c.5606C>G (p.Ser1869Cys)
|
|
|
NM_001009944.3(PKD1):c.5607dup (p.Asn1870fs)
|
|
|
NM_001009944.3(PKD1):c.5608A>C (p.Asn1870His)
|
|
|
NM_001009944.3(PKD1):c.5608A>G (p.Asn1870Asp)
|
rs2544811140
|
|
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser)
|
rs2544811132
|
|
NM_001009944.3(PKD1):c.5609A>T (p.Asn1870Ile)
|
|
|
NM_001009944.3(PKD1):c.5612C>G (p.Ala1871Gly)
|
|
|
NM_001009944.3(PKD1):c.5613dup (p.Val1872fs)
|
|
|
NM_001009944.3(PKD1):c.5615T>G (p.Val1872Gly)
|
rs2544811105
|
|
NM_001009944.3(PKD1):c.5617_5620del (p.Ser1873fs)
|
|
|
NM_001009944.3(PKD1):c.5620T>G (p.Trp1874Gly)
|
|
|
NM_001009944.3(PKD1):c.5622G>A (p.Trp1874Ter)
|
rs2151792322
|
|
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.5637C>G (p.Tyr1879Ter)
|
rs2092447380
|
|
NM_001009944.3(PKD1):c.5639A>T (p.Asn1880Ile)
|
rs547194096
|
|
NM_001009944.3(PKD1):c.5644_5645del (p.Thr1882fs)
|
|
|
NM_001009944.3(PKD1):c.5644_5646del (p.Thr1882del)
|
rs2544810848
|
|
NM_001009944.3(PKD1):c.5657C>T (p.Pro1886Leu)
|
rs80360487
|
|
NM_001009944.3(PKD1):c.5662G>A (p.Val1888Met)
|
|
|
NM_001009944.3(PKD1):c.5668C>A (p.Leu1890Met)
|
rs2544810647
|
|
NM_001009944.3(PKD1):c.5669_5682dup (p.Ser1895fs)
|
|
|
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter)
|
rs1304952446
|
|
NM_001009944.3(PKD1):c.5678G>A (p.Trp1893Ter)
|
rs2092446562
|
|
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter)
|
rs2151792059
|
|
NM_001009944.3(PKD1):c.5680G>C (p.Ala1894Pro)
|
rs1246121854
|
|
NM_001009944.3(PKD1):c.5693dup (p.Val1899fs)
|
rs1567195868
|
|
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter)
|
rs942694907
|
|
NM_001009944.3(PKD1):c.5707delinsGA (p.Gln1903fs)
|
|
|
NM_001009944.3(PKD1):c.5710_5713dup (p.Val1905fs)
|
|
|
NM_001009944.3(PKD1):c.5712G>T (p.Leu1904=)
|
|
|
NM_001009944.3(PKD1):c.5713del (p.Val1905fs)
|
|
|
NM_001009944.3(PKD1):c.5715C>G (p.Val1905=)
|
|
|
NM_001009944.3(PKD1):c.5722C>T (p.Gln1908Ter)
|
rs2151791889
|
|
NM_001009944.3(PKD1):c.5731C>G (p.Leu1911Val)
|
|
|
NM_001009944.3(PKD1):c.5732T>C (p.Leu1911Pro)
|
|
|
NM_001009944.3(PKD1):c.5740G>A (p.Gly1914Ser)
|
|
|
NM_001009944.3(PKD1):c.5744C>A (p.Ser1915Ter)
|
rs760842136
|
|
NM_001009944.3(PKD1):c.5744C>T (p.Ser1915Leu)
|
rs760842136
|
|
NM_001009944.3(PKD1):c.5747C>G (p.Ala1916Gly)
|
rs1197107022
|
|
NM_001009944.3(PKD1):c.5753C>T (p.Thr1918Ile)
|
rs878915702
|
|
NM_001009944.3(PKD1):c.5756T>C (p.Phe1919Ser)
|
rs2544809840
|
|
NM_001009944.3(PKD1):c.5756del (p.Phe1919fs)
|
rs2544809853
|
|
NM_001009944.3(PKD1):c.5758C>G (p.Arg1920Gly)
|
|
|
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)
|
rs199476101
|
|
NM_001009944.3(PKD1):c.576_586del (p.Ala193fs)
|
rs2544880866
|
|
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs)
|
rs2092444151
|
|
NM_001009944.3(PKD1):c.5778_5784del (p.Asn1927fs)
|
|
|
NM_001009944.3(PKD1):c.5778del (p.Asn1927fs)
|
|
|
NM_001009944.3(PKD1):c.5781C>A (p.Asn1927Lys)
|
|
|
NM_001009944.3(PKD1):c.5782C>G (p.Pro1928Ala)
|
|
|
NM_001009944.3(PKD1):c.5786A>T (p.Glu1929Val)
|
rs2544809450
|
|
NM_001009944.3(PKD1):c.5791C>T (p.Leu1931Phe)
|
|
|
NM_001009944.3(PKD1):c.5792T>C (p.Leu1931Pro)
|
|
|
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys)
|
rs776113903
|
|
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs)
|
rs2092443264
|
|
NM_001009944.3(PKD1):c.5804G>C (p.Arg1935Pro)
|
rs770331568
|
|
NM_001009944.3(PKD1):c.5809del (p.Ser1937fs)
|
rs1555454915
|
|
NM_001009944.3(PKD1):c.5812C>T (p.His1938Tyr)
|
|
|
NM_001009944.3(PKD1):c.5820C>G (p.Phe1940Leu)
|
|
|
NM_001009944.3(PKD1):c.5824C>T (p.Arg1942Cys)
|
rs780100275
|
|
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs)
|
rs1567195285
|
|
NM_001009944.3(PKD1):c.5824dup (p.Arg1942fs)
|
rs1567195285
|
|
NM_001009944.3(PKD1):c.5825G>A (p.Arg1942His)
|
|
|
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter)
|
rs200001471
|
|
NM_001009944.3(PKD1):c.5833G>C (p.Asp1945His)
|
|
|
NM_001009944.3(PKD1):c.5836C>A (p.His1946Asn)
|
rs80360489
|
|
NM_001009944.3(PKD1):c.5836C>T (p.His1946Tyr)
|
|
|
NM_001009944.3(PKD1):c.5839G>A (p.Val1947Met)
|
|
|
NM_001009944.3(PKD1):c.5839GTG[1] (p.Val1948del)
|
rs2544808543
|
|
NM_001009944.3(PKD1):c.5848G>A (p.Val1950Met)
|
rs771669643
|
|
NM_001009944.3(PKD1):c.5848G>C (p.Val1950Leu)
|
|
|
NM_001009944.3(PKD1):c.5855G>A (p.Gly1952Asp)
|
rs2092441433
|
|
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs)
|
rs1555454886
|
|
NM_001009944.3(PKD1):c.5856del (p.Asn1954fs)
|
rs2151791178
|
|
NM_001009944.3(PKD1):c.5857A>G (p.Lys1953Glu)
|
|
|
NM_001009944.3(PKD1):c.5861dup (p.Asn1954fs)
|
|
|
NM_001009944.3(PKD1):c.5863_5865del (p.His1955del)
|
rs2544808284
|
|
NM_001009944.3(PKD1):c.5865C>A (p.His1955Gln)
|
rs145225830
|
|
NM_001009944.3(PKD1):c.5866G>A (p.Val1956Met)
|
|
|
NM_001009944.3(PKD1):c.5866G>T (p.Val1956Leu)
|
rs781454286
|
|
NM_001009944.3(PKD1):c.5871C>G (p.Ser1957Arg)
|
|
|
NM_001009944.3(PKD1):c.5877_5882del (p.1959AQ[1])
|
rs2544808048
|
|
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)
|
rs1567195059
|
|
NM_001009944.3(PKD1):c.587C>T (p.Ser196Phe)
|
|
|
NM_001009944.3(PKD1):c.5880G>A (p.Gln1960=)
|
rs2544808099
|
|
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val)
|
rs375440448
|
|
NM_001009944.3(PKD1):c.5882_5927del (p.Ala1961fs)
|
|
|
NM_001009944.3(PKD1):c.5884C>T (p.Gln1962Ter)
|
rs1337022607
|
|
NM_001009944.3(PKD1):c.5886_5893del (p.Gln1962fs)
|
rs2092440281
|
|
NM_001009944.3(PKD1):c.5887del (p.Val1963fs)
|
rs2092440563
|
|
NM_001009944.3(PKD1):c.5888T>C (p.Val1963Ala)
|
rs1596553666
|
|
NM_001009944.3(PKD1):c.5890del (p.Arg1964fs)
|
rs2092440406
|
|
NM_001009944.3(PKD1):c.5893A>G (p.Ile1965Val)
|
|
|
NM_001009944.3(PKD1):c.5895C>T (p.Ile1965=)
|
|
|
NM_001009944.3(PKD1):c.5895dup (p.Val1966fs)
|
|
|
NM_001009944.3(PKD1):c.5896G>A (p.Val1966Met)
|
rs779086418
|
|
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del)
|
rs1555454847
|
|
NM_001009944.3(PKD1):c.590T>G (p.Phe197Cys)
|
|
|
NM_001009944.3(PKD1):c.5912dup (p.Ser1972fs)
|
rs2151790839
|
|
NM_001009944.3(PKD1):c.5913delinsACC (p.Ser1972fs)
|
rs1567194928
|
|
NM_001009944.3(PKD1):c.5921T>G (p.Leu1974Arg)
|
rs2092439627
|
|
NM_001009944.3(PKD1):c.5921del (p.Leu1974fs)
|
rs1596553527
|
|
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)
|
rs2092439541
|
|
NM_001009944.3(PKD1):c.5924A>G (p.Gln1975Arg)
|
|
|
NM_001009944.3(PKD1):c.5929C>T (p.Pro1977Ser)
|
|
|
NM_001009944.3(PKD1):c.5931del (p.Asn1978fs)
|
|
|
NM_001009944.3(PKD1):c.5936G>T (p.Cys1979Phe)
|
|
|
NM_001009944.3(PKD1):c.5936_5949del (p.Cys1979fs)
|
rs2544807269
|
|
NM_001009944.3(PKD1):c.5937C>A (p.Cys1979Ter)
|
rs754333013
|
|
NM_001009944.3(PKD1):c.5938T>C (p.Cys1980Arg)
|
|
|
NM_001009944.3(PKD1):c.5941G>A (p.Glu1981Lys)
|
|
|
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr)
|
rs771005067
|
|
NM_001009944.3(PKD1):c.5958G>A (p.Thr1986=)
|
|
|
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs)
|
rs2151790507
|
|
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs)
|
rs2151790499
|
|
NM_001009944.3(PKD1):c.5972A>G (p.Asn1991Ser)
|
|
|
NM_001009944.3(PKD1):c.5973C>T (p.Asn1991=)
|
|
|
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)
|
rs2092438025
|
|
NM_001009944.3(PKD1):c.5977_5979del (p.Thr1993del)
|
rs2151790460
|
|
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro)
|
rs752388015
|
|
NM_001009944.3(PKD1):c.5987T>G (p.Val1996Gly)
|
rs1596553257
|
|
NM_001009944.3(PKD1):c.5989C>T (p.Gln1997Ter)
|
rs2544806938
|
|
NM_001009944.3(PKD1):c.5993G>A (p.Arg1998His)
|
|
|
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser)
|
rs2092437527
|
|
NM_001009944.3(PKD1):c.5995G>T (p.Gly1999Cys)
|
|
|
NM_001009944.3(PKD1):c.5997C>T (p.Gly1999=)
|
|
|
NM_001009944.3(PKD1):c.5999C>G (p.Ser2000Cys)
|
rs1596553232
|
|
NM_001009944.3(PKD1):c.6000_6001del (p.Arg2001fs)
|
rs2544806868
|
|
NM_001009944.3(PKD1):c.6004G>A (p.Val2002Ile)
|
|
|
NM_001009944.3(PKD1):c.6004G>T (p.Val2002Phe)
|
rs1382000376
|
|
NM_001009944.3(PKD1):c.6005T>A (p.Val2002Asp)
|
|
|
NM_001009944.3(PKD1):c.6011A>G (p.Tyr2004Cys)
|
rs2544806761
|
|
NM_001009944.3(PKD1):c.6011_6016del (p.Tyr2004_Ala2005del)
|
rs2092436949
|
|
NM_001009944.3(PKD1):c.6011_6016dup (p.Tyr2004_Ala2005dup)
|
rs2092436949
|
|
NM_001009944.3(PKD1):c.6012C>A (p.Tyr2004Ter)
|
|
|
NM_001009944.3(PKD1):c.6016T>C (p.Trp2006Arg)
|
|
|
NM_001009944.3(PKD1):c.6017G>C (p.Trp2006Ser)
|
rs2544806706
|
|
NM_001009944.3(PKD1):c.6018G>C (p.Trp2006Cys)
|
rs2544806700
|
|
NM_001009944.3(PKD1):c.601dup (p.His201fs)
|
rs2151824362
|
|
NM_001009944.3(PKD1):c.6021C>A (p.Tyr2007Ter)
|
rs147391291
|
|
NM_001009944.3(PKD1):c.6021C>G (p.Tyr2007Ter)
|
rs147391291
|
|
NM_001009944.3(PKD1):c.6024C>G (p.Phe2008Leu)
|
|
|
NM_001009944.3(PKD1):c.6025T>C (p.Ser2009Pro)
|
rs2092436796
|
|
NM_001009944.3(PKD1):c.6026C>G (p.Ser2009Trp)
|
|
|
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.603C>T (p.His201=)
|
rs13334842
|
|
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter)
|
rs2151790199
|
|
NM_001009944.3(PKD1):c.604G>T (p.Glu202Ter)
|
rs1263936807
|
|
NM_001009944.3(PKD1):c.6050C>A (p.Ser2017Ter)
|
|
|
NM_001009944.3(PKD1):c.6057C>T (p.Val2019=)
|
|
|
NM_001009944.3(PKD1):c.6060C>T (p.Ile2020=)
|
|
|
NM_001009944.3(PKD1):c.6062T>C (p.Leu2021Pro)
|
rs2092435927
|
|
NM_001009944.3(PKD1):c.6063G>A (p.Leu2021=)
|
|
|
NM_001009944.3(PKD1):c.6065C>A (p.Ser2022Ter)
|
|
|
NM_001009944.3(PKD1):c.6068G>T (p.Gly2023Val)
|
|
|
NM_001009944.3(PKD1):c.6071del (p.Arg2024fs)
|
|
|
NM_001009944.3(PKD1):c.6077T>A (p.Val2026Asp)
|
rs2544806221
|
|
NM_001009944.3(PKD1):c.6083A>C (p.Tyr2028Ser)
|
|
|
NM_001009944.3(PKD1):c.6083A>G (p.Tyr2028Cys)
|
rs2092435288
|
|
NM_001009944.3(PKD1):c.6084C>A (p.Tyr2028Ter)
|
rs757173009
|
|
NM_001009944.3(PKD1):c.6086del (p.Thr2029fs)
|
|
|
NM_001009944.3(PKD1):c.6088C>T (p.Pro2030Ser)
|
|
|
NM_001009944.3(PKD1):c.6089C>A (p.Pro2030His)
|
rs2544806086
|
|
NM_001009944.3(PKD1):c.6090del (p.Val2031fs)
|
|
|
NM_001009944.3(PKD1):c.6091_6136del (p.Val2031fs)
|
|
|
NM_001009944.3(PKD1):c.6100G>A (p.Gly2034Arg)
|
rs2151789912
|
|
NM_001009944.3(PKD1):c.6101G>A (p.Gly2034Glu)
|
|
|
NM_001009944.3(PKD1):c.6101G>T (p.Gly2034Val)
|
rs2544805986
|
|
NM_001009944.3(PKD1):c.6102del (p.Leu2035fs)
|
|
|
NM_001009944.3(PKD1):c.6113T>A (p.Ile2038Asn)
|
rs2544805859
|
|
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter)
|
rs755747732
|
|
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)
|
rs2544805834
|
|
NM_001009944.3(PKD1):c.6115dup (p.Gln2039fs)
|
|
|
NM_001009944.3(PKD1):c.6116A>C (p.Gln2039Pro)
|
rs2092434606
|
|
NM_001009944.3(PKD1):c.6119T>G (p.Val2040Gly)
|
|
|
NM_001009944.3(PKD1):c.6124G>C (p.Ala2042Pro)
|
rs556681288
|
|
NM_001009944.3(PKD1):c.6124_6125del (p.Ala2042fs)
|
|
|
NM_001009944.3(PKD1):c.6130A>G (p.Asn2044Asp)
|
rs2544805632
|
|
NM_001009944.3(PKD1):c.6131A>G (p.Asn2044Ser)
|
rs2544805619
|
|
NM_001009944.3(PKD1):c.6131A>T (p.Asn2044Ile)
|
|
|
NM_001009944.3(PKD1):c.6132C>A (p.Asn2044Lys)
|
|
|
NM_001009944.3(PKD1):c.6133G>A (p.Ala2045Thr)
|
|
|
NM_001009944.3(PKD1):c.6137T>C (p.Leu2046Pro)
|
|
|
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs)
|
rs2092433875
|
|
NM_001009944.3(PKD1):c.6139G>A (p.Gly2047Ser)
|
rs2544805508
|
|
NM_001009944.3(PKD1):c.6145G>C (p.Glu2049Gln)
|
|
|
NM_001009944.3(PKD1):c.6147_6148del (p.Asn2050fs)
|
rs2092433535
|
|
NM_001009944.3(PKD1):c.6148A>G (p.Asn2050Asp)
|
rs1302127440
|
|
NM_001009944.3(PKD1):c.6148A>T (p.Asn2050Tyr)
|
|
|
NM_001009944.3(PKD1):c.6151C>T (p.Arg2051Cys)
|
|
|
NM_001009944.3(PKD1):c.6152G>A (p.Arg2051His)
|
|
|
NM_001009944.3(PKD1):c.6157C>G (p.Leu2053Val)
|
|
|
NM_001009944.3(PKD1):c.6158T>C (p.Leu2053Pro)
|
|
|
NM_001009944.3(PKD1):c.6164dup (p.Glu2056fs)
|
rs2151789587
|
|
NM_001009944.3(PKD1):c.6167_6169dup (p.Glu2056_Val2057insGlu)
|
|
|
NM_001009944.3(PKD1):c.616C>T (p.Gln206Ter)
|
rs2544880759
|
|
NM_001009944.3(PKD1):c.6173A>C (p.Gln2058Pro)
|
rs746817602
|
|
NM_001009944.3(PKD1):c.6179C>G (p.Ala2060Gly)
|
rs753999046
|
|
NM_001009944.3(PKD1):c.6184C>T (p.Gln2062Ter)
|
rs750843149
|
|
NM_001009944.3(PKD1):c.6185A>G (p.Gln2062Arg)
|
|
|
NM_001009944.3(PKD1):c.6188A>G (p.Tyr2063Cys)
|
|
|
NM_001009944.3(PKD1):c.6191T>A (p.Val2064Glu)
|
rs2544804974
|
|
NM_001009944.3(PKD1):c.6192G>T (p.Val2064=)
|
|
|
NM_001009944.3(PKD1):c.6193del (p.Ala2065fs)
|
rs1555454620
|
|
NM_001009944.3(PKD1):c.6196_6205delinsT (p.Leu2066_Gly2069delinsCys)
|
|
|
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro)
|
rs1555454606
|
|
NM_001009944.3(PKD1):c.6197_6209del (p.Leu2066fs)
|
rs2092431000
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6207C>T (p.Gly2069=)
|
rs1478973195
|
|
NM_001009944.3(PKD1):c.6208C>T (p.Pro2070Ser)
|
|
|
NM_001009944.3(PKD1):c.6210C>T (p.Pro2070=)
|
|
|
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs)
|
rs2151789316
|
|
NM_001009944.3(PKD1):c.6212G>C (p.Cys2071Ser)
|
|
|
NM_001009944.3(PKD1):c.6218_6220del (p.Thr2073del)
|
|
|
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=)
|
rs886038370
|
|
NM_001009944.3(PKD1):c.6224G>T (p.Arg2075Leu)
|
rs200930978
|
|
NM_001009944.3(PKD1):c.6229G>A (p.Ala2077Thr)
|
|
|
NM_001009944.3(PKD1):c.6229G>C (p.Ala2077Pro)
|
rs1322095511
|
|
NM_001009944.3(PKD1):c.6232C>T (p.Gln2078Ter)
|
|
|
NM_001009944.3(PKD1):c.6233A>G (p.Gln2078Arg)
|
|
|
NM_001009944.3(PKD1):c.6236T>C (p.Phe2079Ser)
|
|
|
NM_001009944.3(PKD1):c.6237dup (p.Glu2080Ter)
|
|
|
NM_001009944.3(PKD1):c.6245C>T (p.Ala2082Val)
|
|
|
NM_001009944.3(PKD1):c.6250AGCCCC[3] (p.Pro2087_Arg2088insSerPro)
|
|
|
NM_001009944.3(PKD1):c.6250_6252del (p.Ser2084del)
|
|
|
NM_001009944.3(PKD1):c.6251del (p.Ser2084fs)
|
|
|
NM_001009944.3(PKD1):c.6252C>T (p.Ser2084=)
|
rs2544804329
|
|
NM_001009944.3(PKD1):c.6254C>G (p.Pro2085Arg)
|
|
|
NM_001009944.3(PKD1):c.6256_6262dup (p.Arg2088fs)
|
|
|
NM_001009944.3(PKD1):c.6259C>T (p.Pro2087Ser)
|
|
|
NM_001009944.3(PKD1):c.6261_6262del (p.Arg2088fs)
|
|
|
NM_001009944.3(PKD1):c.6263G>C (p.Arg2088Pro)
|
|
|
NM_001009944.3(PKD1):c.6266G>A (p.Arg2089His)
|
|
|
NM_001009944.3(PKD1):c.6272C>T (p.Ala2091Val)
|
|
|
NM_001009944.3(PKD1):c.6275A>G (p.Tyr2092Cys)
|
|
|
NM_001009944.3(PKD1):c.6276C>A (p.Tyr2092Ter)
|
|
|
NM_001009944.3(PKD1):c.6277C>A (p.His2093Asn)
|
rs1430359145
|
|
NM_001009944.3(PKD1):c.6278A>G (p.His2093Arg)
|
|
|
NM_001009944.3(PKD1):c.6280T>G (p.Trp2094Gly)
|
|
|
NM_001009944.3(PKD1):c.6281G>A (p.Trp2094Ter)
|
rs2544804084
|
|
NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter)
|
rs2151788870
|
|
NM_001009944.3(PKD1):c.6283G>C (p.Asp2095His)
|
|
|
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser)
|
rs1596552090
|
|
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)
|
rs2544804049
|
|
NM_001009944.3(PKD1):c.628T>C (p.Cys210Arg)
|
rs2544880665
|
|
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs)
|
rs2151824295
|
|
NM_001009944.3(PKD1):c.6292G>A (p.Asp2098Asn)
|
|
|
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly)
|
rs2151788839
|
|
NM_001009944.3(PKD1):c.6293A>T (p.Asp2098Val)
|
|
|
NM_001009944.3(PKD1):c.6298_6299delinsCT (p.Ser2100Leu)
|
|
|
NM_001009944.3(PKD1):c.6298_6306del (p.Ser2100_Gly2102del)
|
|
|
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.6302C>A (p.Pro2101Gln)
|
|
|
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter)
|
rs1555454512
|
|
NM_001009944.3(PKD1):c.6311A>G (p.Asp2104Gly)
|
|
|
NM_001009944.3(PKD1):c.6312_6318dup (p.Glu2107delinsHisArgTer)
|
rs2544803846
|
|
NM_001009944.3(PKD1):c.6314_6315del (p.Thr2105fs)
|
|
|
NM_001009944.3(PKD1):c.6322C>A (p.Pro2108Thr)
|
|
|
NM_001009944.3(PKD1):c.6323_6330delinsACTCCTACCT (p.Pro2108fs)
|
rs2092427579
|
|
NM_001009944.3(PKD1):c.6323_6334del (p.Pro2108_Glu2111del)
|
rs2092427430
|
|
NM_001009944.3(PKD1):c.6329C>G (p.Ala2110Gly)
|
rs1266395140
|
|
NM_001009944.3(PKD1):c.6330C>G (p.Ala2110=)
|
rs148814691
|
|
NM_001009944.3(PKD1):c.6330C>T (p.Ala2110=)
|
rs148814691
|
|
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
|
|
|
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro)
|
rs1596551934
|
|
NM_001009944.3(PKD1):c.6340T>C (p.Tyr2114His)
|
|
|
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)
|
rs2092427197
|
|
NM_001009944.3(PKD1):c.6341_6344del (p.Ser2113_Tyr2114insTer)
|
|
|
NM_001009944.3(PKD1):c.6346A>T (p.Arg2116Trp)
|
|
|
NM_001009944.3(PKD1):c.6346_6352del (p.Arg2116fs)
|
rs2544803642
|
|
NM_001009944.3(PKD1):c.6360C>A (p.Tyr2120Ter)
|
rs1404404094
|
|
NM_001009944.3(PKD1):c.6361C>A (p.Arg2121Ser)
|
|
|
NM_001009944.3(PKD1):c.6365T>A (p.Val2122Glu)
|
|
|
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)
|
rs762911981
|
|
NM_001009944.3(PKD1):c.6368A>T (p.Gln2123Leu)
|
|
|
NM_001009944.3(PKD1):c.636C>T (p.Ala212=)
|
|
|
NM_001009944.3(PKD1):c.6370G>T (p.Val2124Leu)
|
|
|
NM_001009944.3(PKD1):c.6380C>G (p.Ser2127Cys)
|
|
|
NM_001009944.3(PKD1):c.6380_6397dup (p.Phe2132_Phe2133insSerAsnLeuValSerPhe)
|
rs2544803389
|
|
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp)
|
rs2151788281
|
|
NM_001009944.3(PKD1):c.6382A>T (p.Asn2128Tyr)
|
rs2151788281
|
|
NM_001009944.3(PKD1):c.6383A>C (p.Asn2128Thr)
|
|
|
NM_001009944.3(PKD1):c.6383A>G (p.Asn2128Ser)
|
rs2544803461
|
|
NM_001009944.3(PKD1):c.6384C>A (p.Asn2128Lys)
|
|
|
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys)
|
rs1247882278
|
|
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg)
|
rs2151788244
|
|
NM_001009944.3(PKD1):c.6392G>T (p.Ser2131Ile)
|
rs2544803423
|
|
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)
|
rs1555454460
|
|
NM_001009944.3(PKD1):c.6398dup (p.Val2134fs)
|
rs1555454467
|
|
NM_001009944.3(PKD1):c.6400G>A (p.Val2134Met)
|
|
|
NM_001009944.3(PKD1):c.6404_6415del (p.Ala2135_Thr2138del)
|
|
|
NM_001009944.3(PKD1):c.6405G>A (p.Ala2135=)
|
|
|
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter)
|
rs2092425533
|
|
NM_001009944.3(PKD1):c.6408G>T (p.Gln2136His)
|
|
|
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser)
|
rs1567218351
|
|
NM_001009944.3(PKD1):c.6413C>T (p.Thr2138Met)
|
|
|
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr)
|
rs1596590574
|
|
NM_001009944.3(PKD1):c.641G>C (p.Cys214Ser)
|
rs1596590574
|
|
NM_001009944.3(PKD1):c.641G>T (p.Cys214Phe)
|
|
|
NM_001009944.3(PKD1):c.6420del (p.Val2141fs)
|
rs2544803187
|
|
NM_001009944.3(PKD1):c.6421G>A (p.Val2141Ile)
|
|
|
NM_001009944.3(PKD1):c.6421G>T (p.Val2141Phe)
|
|
|
NM_001009944.3(PKD1):c.6422T>A (p.Val2141Asp)
|
rs2544803160
|
|
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter)
|
rs2151788037
|
|
NM_001009944.3(PKD1):c.6424del (p.Gln2142fs)
|
rs1060499702
|
|
NM_001009944.3(PKD1):c.6430C>G (p.Leu2144Val)
|
|
|
NM_001009944.3(PKD1):c.6440_6467del (p.Arg2147fs)
|
rs1567192790
|
|
NM_001009944.3(PKD1):c.6447G>A (p.Pro2149=)
|
|
|
NM_001009944.3(PKD1):c.6457dup (p.Val2153fs)
|
|
|
NM_001009944.3(PKD1):c.6469del (p.Leu2157fs)
|
|
|
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter)
|
rs2092423837
|
|
NM_001009944.3(PKD1):c.6483dup (p.Arg2162fs)
|
rs1334651902
|
|
NM_001009944.3(PKD1):c.6485G>A (p.Arg2162Gln)
|
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.648C>T (p.Ser216=)
|
|
|
NM_001009944.3(PKD1):c.6491C>G (p.Ser2164Ter)
|
rs1257689527
|
|
NM_001009944.3(PKD1):c.6491C>T (p.Ser2164Leu)
|
|
|
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter)
|
rs1485307916
|
|
NM_001009944.3(PKD1):c.6497G>A (p.Arg2166His)
|
|
|
NM_001009944.3(PKD1):c.6497G>T (p.Arg2166Leu)
|
|
|
NM_001009944.3(PKD1):c.6498C>T (p.Arg2166=)
|
rs1340263285
|
|
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp)
|
rs2151787670
|
|
NM_001009944.3(PKD1):c.6504C>A (p.Tyr2168Ter)
|
rs766241260
|
|
NM_001009944.3(PKD1):c.6506T>C (p.Leu2169Ser)
|
rs2151787641
|
|
NM_001009944.3(PKD1):c.6507G>C (p.Leu2169Phe)
|
rs1342281726
|
|
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs)
|
rs1567192623
|
|
NM_001009944.3(PKD1):c.6512C>A (p.Ala2171Asp)
|
rs755655916
|
|
NM_001009944.3(PKD1):c.6512C>T (p.Ala2171Val)
|
rs755655916
|
|
NM_001009944.3(PKD1):c.6518T>C (p.Val2173Ala)
|
|
|
NM_001009944.3(PKD1):c.6526C>T (p.Arg2176Cys)
|
|
|
NM_001009944.3(PKD1):c.6528C>T (p.Arg2176=)
|
|
|
NM_001009944.3(PKD1):c.6532T>C (p.Cys2178Arg)
|
rs1358817073
|
|
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter)
|
rs1054011070
|
|
NM_001009944.3(PKD1):c.6535G>A (p.Val2179Ile)
|
|
|
NM_001009944.3(PKD1):c.6537del (p.Thr2180fs)
|
|
|
NM_001009944.3(PKD1):c.653G>A (p.Gly218Asp)
|
|
|
NM_001009944.3(PKD1):c.6540del (p.Tyr2181fs)
|
|
|
NM_001009944.3(PKD1):c.6545_6580del (p.Gln2182_Ser2194delinsArg)
|
|
|
NM_001009944.3(PKD1):c.6545_6603delinsGCTCG (p.Gln2182_Pro2201delinsArgSer)
|
rs2544801847
|
|
NM_001009944.3(PKD1):c.6549_6550del (p.Glu2184fs)
|
|
|
NM_001009944.3(PKD1):c.6549del (p.Glu2184fs)
|
rs2544802378
|
|
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)
|
rs1555454373
|
|
NM_001009944.3(PKD1):c.6552G>T (p.Glu2184Asp)
|
|
|
NM_001009944.3(PKD1):c.6553T>G (p.Tyr2185Asp)
|
rs2544802347
|
|
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter)
|
rs755972713
|
|
NM_001009944.3(PKD1):c.6556C>T (p.Arg2186Cys)
|
|
|
NM_001009944.3(PKD1):c.6557G>C (p.Arg2186Pro)
|
rs1046305889
|
|
NM_001009944.3(PKD1):c.6557G>T (p.Arg2186Leu)
|
rs1046305889
|
|
NM_001009944.3(PKD1):c.655C>T (p.Gln219Ter)
|
rs2092673393
|
|
NM_001009944.3(PKD1):c.6560G>A (p.Trp2187Ter)
|
rs1161210869
|
|
NM_001009944.3(PKD1):c.6561G>A (p.Trp2187Ter)
|
|
|
NM_001009944.3(PKD1):c.6561G>C (p.Trp2187Cys)
|
rs867422468
|
|
NM_001009944.3(PKD1):c.6561G>T (p.Trp2187Cys)
|
rs867422468
|
|
NM_001009944.3(PKD1):c.6562G>T (p.Glu2188Ter)
|
|
|
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs)
|
rs1596551138
|
|
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs)
|
rs2092420672
|
|
NM_001009944.3(PKD1):c.6576_6582del (p.Cys2195fs)
|
|
|
NM_001009944.3(PKD1):c.6582C>G (p.Ser2194Arg)
|
|
|
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)
|
rs1555454353
|
|
NM_001009944.3(PKD1):c.6584_6597del (p.Cys2195fs)
|
|
|
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter)
|
rs1567192286
|
|
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs)
|
rs1567192229
|
|
NM_001009944.3(PKD1):c.6588G>A (p.Gln2196=)
|
rs2092420452
|
|
NM_001009944.3(PKD1):c.6589C>T (p.Arg2197Trp)
|
rs771638566
|
|
NM_001009944.3(PKD1):c.6590G>T (p.Arg2197Leu)
|
|
|
NM_001009944.3(PKD1):c.6599_6614dup (p.Leu2206fs)
|
|
|
NM_001009944.3(PKD1):c.659del (p.Gly220fs)
|
rs2151824233
|
|
NM_001009944.3(PKD1):c.6600_6603del (p.Pro2201fs)
|
|
|
NM_001009944.3(PKD1):c.6607C>T (p.Arg2203Cys)
|
|
|
NM_001009944.3(PKD1):c.6608G>A (p.Arg2203His)
|
|
|
NM_001009944.3(PKD1):c.6608G>T (p.Arg2203Leu)
|
rs765511448
|
|
NM_001009944.3(PKD1):c.6611_6612del (p.Val2204fs)
|
|
|
NM_001009944.3(PKD1):c.6613G>A (p.Ala2205Thr)
|
|
|
NM_001009944.3(PKD1):c.6614C>G (p.Ala2205Gly)
|
|
|
NM_001009944.3(PKD1):c.6619C>T (p.Pro2207Ser)
|
|
|
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=)
|
rs575553075
|
|
NM_001009944.3(PKD1):c.6621C>T (p.Pro2207=)
|
rs575553075
|
|
NM_001009944.3(PKD1):c.6622G>C (p.Gly2208Arg)
|
rs779825346
|
|
NM_001009944.3(PKD1):c.6625G>T (p.Val2209Leu)
|
rs745677305
|
|
NM_001009944.3(PKD1):c.6629_6644dup (p.Leu2216fs)
|
|
|
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)
|
rs1567218310
|
|
NM_001009944.3(PKD1):c.6631G>A (p.Val2211Met)
|
|
|
NM_001009944.3(PKD1):c.6638G>C (p.Arg2213Pro)
|
rs751540966
|
|
NM_001009944.3(PKD1):c.6640C>T (p.Pro2214Ser)
|
rs1567191971
|
|
NM_001009944.3(PKD1):c.6642_6656del (p.Val2217_Leu2221del)
|
|
|
NM_001009944.3(PKD1):c.6644G>A (p.Arg2215Gln)
|
|
|
NM_001009944.3(PKD1):c.6649G>C (p.Val2217Leu)
|
rs2092418622
|
|
NM_001009944.3(PKD1):c.664G>C (p.Ala222Pro)
|
|
|
NM_001009944.3(PKD1):c.6650_6664del (p.Val2217_Leu2221del)
|
|
|
NM_001009944.3(PKD1):c.6655_6663del (p.Pro2219_Leu2221del)
|
|
|
NM_001009944.3(PKD1):c.6656C>G (p.Pro2219Arg)
|
|
|
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)
|
rs1567191874
|
|
NM_001009944.3(PKD1):c.6656del (p.Pro2219fs)
|
|
|
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.6658C>T (p.Arg2220Trp)
|
rs769509393
|
|
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu)
|
rs1567218284
|
|
NM_001009944.3(PKD1):c.6660del (p.Leu2221fs)
|
rs2544801350
|
|
NM_001009944.3(PKD1):c.6665C>G (p.Ala2222Gly)
|
|
|
NM_001009944.3(PKD1):c.6671C>T (p.Pro2224Leu)
|
rs755220551
|
|
NM_001009944.3(PKD1):c.6676G>C (p.Gly2226Arg)
|
rs2544801237
|
|
NM_001009944.3(PKD1):c.6677G>A (p.Gly2226Glu)
|
|
|
NM_001009944.3(PKD1):c.667G>C (p.Ala223Pro)
|
rs2544880420
|
|
NM_001009944.3(PKD1):c.6680A>C (p.His2227Pro)
|
rs766836544
|
|
NM_001009944.3(PKD1):c.6680ACT[3] (p.Tyr2228_Cys2229insTyr)
|
|
|
NM_001009944.3(PKD1):c.6683A>C (p.Tyr2228Ser)
|
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
NM_001009944.3(PKD1):c.6684C>G (p.Tyr2228Ter)
|
rs149862983
|
|
NM_001009944.3(PKD1):c.6692T>G (p.Val2231Gly)
|
rs2544801120
|
|
NM_001009944.3(PKD1):c.6693_6694del (p.Phe2232fs)
|
|
|
NM_001009944.3(PKD1):c.6695T>C (p.Phe2232Ser)
|
rs2151786592
|
|
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)
|
rs2544801096
|
|
NM_001009944.3(PKD1):c.6700G>T (p.Val2234Leu)
|
rs762322536
|
|
NM_001009944.3(PKD1):c.6701T>A (p.Val2234Glu)
|
rs2092417183
|
|
NM_001009944.3(PKD1):c.6709G>C (p.Gly2237Arg)
|
|
|
NM_001009944.3(PKD1):c.670_691del (p.Leu224fs)
|
rs2544880323
|
|
NM_001009944.3(PKD1):c.6714C>G (p.Asp2238Glu)
|
rs2092416905
|
|
NM_001009944.3(PKD1):c.6715_6716del (p.Thr2239fs)
|
rs2151786492
|
|
NM_001009944.3(PKD1):c.6721C>G (p.Leu2241Val)
|
rs574203747
|
|
NM_001009944.3(PKD1):c.6726A>T (p.Thr2242=)
|
rs756310748
|
|
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter)
|
rs1567191609
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6727_6730del (p.Gln2243fs)
|
|
|
NM_001009944.3(PKD1):c.6729G>C (p.Gln2243His)
|
|
|
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.6733A>T (p.Ile2245Phe)
|
|
|
NM_001009944.3(PKD1):c.6734_6737del (p.Ile2245fs)
|
|
|
NM_001009944.3(PKD1):c.6735C>G (p.Ile2245Met)
|
|
|
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)
|
rs1567191534
|
|
NM_001009944.3(PKD1):c.6737A>G (p.Gln2246Arg)
|
rs554274981
|
|
NM_001009944.3(PKD1):c.6739G>C (p.Ala2247Pro)
|
rs749515571
|
|
NM_001009944.3(PKD1):c.673_674del (p.Ser225fs)
|
rs2544880396
|
|
NM_001009944.3(PKD1):c.6740C>G (p.Ala2247Gly)
|
|
|
NM_001009944.3(PKD1):c.6741del (p.Asn2248fs)
|
|
|
NM_001009944.3(PKD1):c.6743A>G (p.Asn2248Ser)
|
|
|
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu)
|
rs1555454223
|
|
NM_001009944.3(PKD1):c.6747G>C (p.Val2249=)
|
rs2544800676
|
|
NM_001009944.3(PKD1):c.6747_6750delinsCA (p.Thr2250fs)
|
rs2544800654
|
|
NM_001009944.3(PKD1):c.6748A>T (p.Thr2250Ser)
|
|
|
NM_001009944.3(PKD1):c.6749_6750del (p.Thr2250fs)
|
rs2544800643
|
|
NM_001009944.3(PKD1):c.674C>G (p.Ser225Trp)
|
|
|
NM_001009944.3(PKD1):c.6750G>A (p.Thr2250=)
|
|
|
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
|
rs1596550396
|
|
NM_001009944.3(PKD1):c.6755C>T (p.Ala2252Val)
|
|
|
NM_001009944.3(PKD1):c.6759C>A (p.Pro2253=)
|
|
|
NM_001009944.3(PKD1):c.6759_6760delinsT (p.Glu2254fs)
|
rs2544800523
|
|
NM_001009944.3(PKD1):c.6759del (p.Glu2254fs)
|
rs2544800556
|
|
NM_001009944.3(PKD1):c.675G>C (p.Ser225=)
|
|
|
NM_001009944.3(PKD1):c.6760G>A (p.Glu2254Lys)
|
|
|
NM_001009944.3(PKD1):c.6760G>T (p.Glu2254Ter)
|
|
|
NM_001009944.3(PKD1):c.6763C>T (p.Arg2255Cys)
|
rs199803853
|
|
NM_001009944.3(PKD1):c.6769G>C (p.Val2257Leu)
|
|
|
NM_001009944.3(PKD1):c.6769del (p.Val2257fs)
|
rs2544800435
|
|
NM_001009944.3(PKD1):c.6777C>A (p.Ile2259=)
|
|
|
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del)
|
rs2544800298
|
|
NM_001009944.3(PKD1):c.6779T>G (p.Ile2260Ser)
|
|
|
NM_001009944.3(PKD1):c.6784G>A (p.Gly2262Ser)
|
rs1567191274
|
|
NM_001009944.3(PKD1):c.6784G>C (p.Gly2262Arg)
|
rs1567191274
|
|
NM_001009944.3(PKD1):c.6786del (p.Gly2263fs)
|
|
|
NM_001009944.3(PKD1):c.6788G>A (p.Gly2263Asp)
|
rs2544800244
|
|
NM_001009944.3(PKD1):c.6792A>C (p.Ser2264=)
|
rs142928249
|
|
NM_001009944.3(PKD1):c.6793_6807del (p.Tyr2265_Ser2269del)
|
rs2544800034
|
|
NM_001009944.3(PKD1):c.6794dup (p.Tyr2265Ter)
|
|
|
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.6797G>A (p.Arg2266His)
|
|
|
NM_001009944.3(PKD1):c.6797G>C (p.Arg2266Pro)
|
|
|
NM_001009944.3(PKD1):c.6798C>T (p.Arg2266=)
|
rs139215055
|
|
NM_001009944.3(PKD1):c.6799G>A (p.Val2267Met)
|
|
|
NM_001009944.3(PKD1):c.679C>T (p.Gln227Ter)
|
|
|
NM_001009944.3(PKD1):c.6802_6803del (p.Trp2268fs)
|
|
|
NM_001009944.3(PKD1):c.6803G>A (p.Trp2268Ter)
|
|
|
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.6810C>G (p.Asp2270Glu)
|
|
|
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
|
rs1567191145
|
|
NM_001009944.3(PKD1):c.6813dup (p.Arg2272fs)
|
rs2151785975
|
|
NM_001009944.3(PKD1):c.6815G>A (p.Arg2272Gln)
|
|
|
NM_001009944.3(PKD1):c.6819C>T (p.Asp2273=)
|
rs372298966
|
|
NM_001009944.3(PKD1):c.6826C>G (p.Leu2276Val)
|
rs2092413572
|
|
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro)
|
rs1567191044
|
|
NM_001009944.3(PKD1):c.6830A>T (p.Asp2277Val)
|
|
|
NM_001009944.3(PKD1):c.6831T>A (p.Asp2277Glu)
|
rs2092413339
|
|
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg)
|
rs1555454145
|
|
NM_001009944.3(PKD1):c.6832G>T (p.Gly2278Trp)
|
rs1555454145
|
|
NM_001009944.3(PKD1):c.6837C>T (p.Ser2279=)
|
|
|
NM_001009944.3(PKD1):c.6842C>T (p.Ser2281Phe)
|
|
|
NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter)
|
rs546354639
|
|
NM_001009944.3(PKD1):c.6854A>G (p.Asn2285Ser)
|
|
|
NM_001009944.3(PKD1):c.6856dup (p.Leu2286fs)
|
rs2544799645
|
|
NM_001009944.3(PKD1):c.6857T>G (p.Leu2286Arg)
|
|
|
NM_001009944.3(PKD1):c.6859G>T (p.Glu2287Ter)
|
|
|
NM_001009944.3(PKD1):c.6867C>T (p.Gly2289=)
|
|
|
NM_001009944.3(PKD1):c.6868G>A (p.Asp2290Asn)
|
rs550509675
|
|
NM_001009944.3(PKD1):c.6868G>T (p.Asp2290Tyr)
|
rs550509675
|
|
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter)
|
rs755591790
|
|
NM_001009944.3(PKD1):c.6875C>T (p.Thr2292Met)
|
|
|
NM_001009944.3(PKD1):c.687G>T (p.Trp229Cys)
|
rs2544880342
|
|
NM_001009944.3(PKD1):c.6881T>C (p.Leu2294Pro)
|
|
|
NM_001009944.3(PKD1):c.6883dup (p.Ser2295fs)
|
rs2151785622
|
|
NM_001009944.3(PKD1):c.688T>G (p.Cys230Gly)
|
|
|
NM_001009944.3(PKD1):c.6890A>C (p.His2297Pro)
|
|
|
NM_001009944.3(PKD1):c.6892T>G (p.Trp2298Gly)
|
|
|
NM_001009944.3(PKD1):c.6894G>A (p.Trp2298Ter)
|
|
|
NM_001009944.3(PKD1):c.689G>C (p.Cys230Ser)
|
rs1255640370
|
|
NM_001009944.3(PKD1):c.689G>T (p.Cys230Phe)
|
|
|
NM_001009944.3(PKD1):c.68C>G (p.Ala23Gly)
|
|
|
NM_001009944.3(PKD1):c.68C>T (p.Ala23Val)
|
|
|
NM_001009944.3(PKD1):c.6900T>A (p.Cys2300Ter)
|
|
|
NM_001009944.3(PKD1):c.6908C>T (p.Ser2303Leu)
|
|
|
NM_001009944.3(PKD1):c.690C>A (p.Cys230Ter)
|
|
|
NM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter)
|
rs1064793762
|
|
NM_001009944.3(PKD1):c.6913_6914del (p.Gln2305fs)
|
rs1555454075
|
|
NM_001009944.3(PKD1):c.6915+1G>A
|
rs2151785467
|
|
NM_001009944.3(PKD1):c.6915+27A>C
|
rs560681737
|
|
NM_001009944.3(PKD1):c.6915+2T>C
|
|
|
NM_001009944.3(PKD1):c.6915+3C>G
|
|
|
NM_001009944.3(PKD1):c.6916-10C>A
|
|
|
NM_001009944.3(PKD1):c.6916-10C>T
|
|
|
NM_001009944.3(PKD1):c.6916-1G>C
|
|
|
NM_001009944.3(PKD1):c.6916-5T>A
|
|
|
NM_001009944.3(PKD1):c.6916-9G>A
|
rs1567190244
|
|
NM_001009944.3(PKD1):c.6919dup (p.Glu2307fs)
|
|
|
NM_001009944.3(PKD1):c.6923C>A (p.Ala2308Asp)
|
|
|
NM_001009944.3(PKD1):c.6925G>T (p.Gly2309Cys)
|
|
|
NM_001009944.3(PKD1):c.692T>C (p.Leu231Pro)
|
|
|
NM_001009944.3(PKD1):c.6932G>A (p.Cys2311Tyr)
|
|
|
NM_001009944.3(PKD1):c.6935C>G (p.Ala2312Gly)
|
|
|
NM_001009944.3(PKD1):c.6936G>A (p.Ala2312=)
|
|
|
NM_001009944.3(PKD1):c.6943T>C (p.Phe2315Leu)
|
rs2092402838
|
|
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg)
|
rs2151824152
|
|
NM_001009944.3(PKD1):c.6953del (p.Arg2318fs)
|
|
|
NM_001009944.3(PKD1):c.6959G>A (p.Ser2320Asn)
|
rs2544796109
|
|
NM_001009944.3(PKD1):c.695G>C (p.Cys232Ser)
|
rs2544880304
|
|
NM_001009944.3(PKD1):c.6961_6985del (p.Ser2321fs)
|
|
|
NM_001009944.3(PKD1):c.6968_6981dup (p.Glu2328fs)
|
|
|
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp)
|
rs1114167370
|
|
NM_001009944.3(PKD1):c.6970dup (p.Thr2324fs)
|
rs2092402238
|
|
NM_001009944.3(PKD1):c.6973A>G (p.Ile2325Val)
|
|
|
NM_001009944.3(PKD1):c.6979C>G (p.Arg2327Gly)
|
|
|
NM_001009944.3(PKD1):c.6980G>A (p.Arg2327Gln)
|
|
|
NM_001009944.3(PKD1):c.6982G>T (p.Glu2328Ter)
|
rs2151783909
|
|
NM_001009944.3(PKD1):c.6985C>T (p.Arg2329Trp)
|
|
|
NM_001009944.3(PKD1):c.6986G>A (p.Arg2329Gln)
|
|
|
NM_001009944.3(PKD1):c.6987_6988insATGGCGG (p.Leu2330fs)
|
rs2544795860
|
|
NM_001009944.3(PKD1):c.6992C>A (p.Ala2331Glu)
|
|
|
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.6998G>A (p.Gly2333Asp)
|
|
|
NM_001009944.3(PKD1):c.6G>C (p.Pro2=)
|
|
|
NM_001009944.3(PKD1):c.7004dup (p.Tyr2336fs)
|
|
|
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.7008C>T (p.Tyr2336=)
|
|
|
NM_001009944.3(PKD1):c.7010C>A (p.Thr2337Asn)
|
rs1060499713
|
|
NM_001009944.3(PKD1):c.7010C>G (p.Thr2337Ser)
|
|
|
NM_001009944.3(PKD1):c.7012T>C (p.Phe2338Leu)
|
|
|
NM_001009944.3(PKD1):c.7013T>G (p.Phe2338Cys)
|
rs2544795627
|
|
NM_001009944.3(PKD1):c.7019T>C (p.Leu2340Pro)
|
|
|
NM_001009944.3(PKD1):c.7023C>T (p.Thr2341=)
|
rs555685116
|
|
NM_001009944.3(PKD1):c.7024G>A (p.Val2342Met)
|
|
|
NM_001009944.3(PKD1):c.7025T>G (p.Val2342Gly)
|
rs2151783732
|
|
NM_001009944.3(PKD1):c.702G>A (p.Ala234=)
|
|
|
NM_001009944.3(PKD1):c.7036G>A (p.Gly2346Ser)
|
|
|
NM_001009944.3(PKD1):c.7037G>A (p.Gly2346Asp)
|
|
|
NM_001009944.3(PKD1):c.7037G>T (p.Gly2346Val)
|
|
|
NM_001009944.3(PKD1):c.7040G>A (p.Arg2347His)
|
|
|
NM_001009944.3(PKD1):c.7045G>T (p.Glu2349Ter)
|
rs2544795284
|
|
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs)
|
rs1596548114
|
|
NM_001009944.3(PKD1):c.7049A>C (p.Glu2350Ala)
|
rs542108813
|
|
NM_001009944.3(PKD1):c.704C>G (p.Ala235Gly)
|
|
|
NM_001009944.3(PKD1):c.7055C>G (p.Thr2352Ser)
|
|
|
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.7061A>G (p.Gln2354Arg)
|
rs2092400132
|
|
NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro)
|
rs2092400099
|
|
NM_001009944.3(PKD1):c.7065+105CT[2]
|
|
|
NM_001009944.3(PKD1):c.7065+14G>C
|
|
|
NM_001009944.3(PKD1):c.7065+1G>A
|
rs2151783532
|
|
NM_001009944.3(PKD1):c.7065+1G>C
|
rs2151783532
|
|
NM_001009944.3(PKD1):c.7065+224C>G
|
rs2544792639
|
|
NM_001009944.3(PKD1):c.7065+2T>C
|
|
|
NM_001009944.3(PKD1):c.7065+2T>G
|
rs2151783529
|
|
NM_001009944.3(PKD1):c.7065+2_7065+4del
|
|
|
NM_001009944.3(PKD1):c.7065+2del
|
|
|
NM_001009944.3(PKD1):c.7065+5G>C
|
rs2544795023
|
|
NM_001009944.3(PKD1):c.7066-1G>C
|
rs2544785393
|
|
NM_001009944.3(PKD1):c.7066-2A>G
|
rs2544785397
|
|
NM_001009944.3(PKD1):c.7066-4C>G
|
|
|
NM_001009944.3(PKD1):c.7066-9C>T
|
rs760654069
|
|
NM_001009944.3(PKD1):c.7067T>G (p.Val2356Gly)
|
rs2544785366
|
|
NM_001009944.3(PKD1):c.706C>T (p.Gln236Ter)
|
rs2544880232
|
|
NM_001009944.3(PKD1):c.706del (p.Gln236fs)
|
rs2544880243
|
|
NM_001009944.3(PKD1):c.7072A>C (p.Ile2358Leu)
|
|
|
NM_001009944.3(PKD1):c.7075C>T (p.Arg2359Trp)
|
|
|
NM_001009944.3(PKD1):c.7075del (p.Arg2359fs)
|
rs2092358825
|
|
NM_001009944.3(PKD1):c.7076G>A (p.Arg2359Gln)
|
|
|
NM_001009944.3(PKD1):c.7078_7081del (p.Ser2360fs)
|
rs2544785272
|
|
NM_001009944.3(PKD1):c.707_711del (p.Gln236fs)
|
|
|
NM_001009944.3(PKD1):c.707del (p.Gln236fs)
|
rs2092672656
|
|
NM_001009944.3(PKD1):c.7081G>T (p.Gly2361Cys)
|
|
|
NM_001009944.3(PKD1):c.7084C>T (p.Arg2362Trp)
|
rs759171590
|
|
NM_001009944.3(PKD1):c.7088_7095dup (p.Val2366fs)
|
|
|
NM_001009944.3(PKD1):c.7089G>A (p.Val2363=)
|
|
|
NM_001009944.3(PKD1):c.7097T>A (p.Val2366Glu)
|
rs2544785124
|
|
NM_001009944.3(PKD1):c.7104_7118del (p.Leu2368_Cys2373delinsPhe)
|
rs2544784949
|
|
NM_001009944.3(PKD1):c.7105dup (p.Glu2369fs)
|
|
|
NM_001009944.3(PKD1):c.7108T>A (p.Cys2370Ser)
|
|
|
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)
|
rs1567187445
|
|
NM_001009944.3(PKD1):c.7109G>A (p.Cys2370Tyr)
|
|
|
NM_001009944.3(PKD1):c.7109G>C (p.Cys2370Ser)
|
rs1567187434
|
|
NM_001009944.3(PKD1):c.7110T>C (p.Cys2370=)
|
|
|
NM_001009944.3(PKD1):c.7111del (p.Val2371fs)
|
rs1567187420
|
|
NM_001009944.3(PKD1):c.7113_7114del (p.Ser2372fs)
|
rs1567187389
|
|
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)
|
rs1567187389
|
|
NM_001009944.3(PKD1):c.7114T>G (p.Ser2372Ala)
|
rs2544784987
|
|
NM_001009944.3(PKD1):c.7115C>G (p.Ser2372Cys)
|
rs2544784984
|
|
NM_001009944.3(PKD1):c.7115C>T (p.Ser2372Phe)
|
|
|
NM_001009944.3(PKD1):c.7117T>G (p.Cys2373Gly)
|
rs2544784961
|
|
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr)
|
rs2544784938
|
|
NM_001009944.3(PKD1):c.7118G>C (p.Cys2373Ser)
|
|
|
NM_001009944.3(PKD1):c.711del (p.Ser238fs)
|
rs2092672595
|
|
NM_001009944.3(PKD1):c.7120A>T (p.Lys2374Ter)
|
rs2151776957
|
|
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)
|
rs1555453395
|
|
NM_001009944.3(PKD1):c.7127A>G (p.Gln2376Arg)
|
|
|
NM_001009944.3(PKD1):c.7132G>A (p.Val2378Met)
|
|
|
NM_001009944.3(PKD1):c.7136A>G (p.Tyr2379Cys)
|
|
|
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)
|
rs752114168
|
|
NM_001009944.3(PKD1):c.7138G>T (p.Glu2380Ter)
|
rs778386729
|
|
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs)
|
rs2092356759
|
|
NM_001009944.3(PKD1):c.7141G>A (p.Val2381Met)
|
rs2092356831
|
|
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile)
|
rs1555453383
|
|
NM_001009944.3(PKD1):c.7146C>G (p.Ser2382Arg)
|
rs1385381682
|
|
NM_001009944.3(PKD1):c.7148G>T (p.Arg2383Leu)
|
rs753469193
|
|
NM_001009944.3(PKD1):c.7154C>G (p.Ser2385Cys)
|
|
|
NM_001009944.3(PKD1):c.7156T>C (p.Tyr2386His)
|
|
|
NM_001009944.3(PKD1):c.7159G>A (p.Val2387Met)
|
|
|
NM_001009944.3(PKD1):c.7164C>G (p.Tyr2388Ter)
|
rs1555453372
|
|
NM_001009944.3(PKD1):c.7169_7171del (p.Glu2390del)
|
rs1555453367
|
|
NM_001009944.3(PKD1):c.7170G>A (p.Glu2390=)
|
rs1567187083
|
|
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)
|
rs1555453360
|
|
NM_001009944.3(PKD1):c.7175G>C (p.Arg2392Pro)
|
|
|
NM_001009944.3(PKD1):c.7177T>C (p.Cys2393Arg)
|
|
|
NM_001009944.3(PKD1):c.717T>A (p.Ser239Arg)
|
|
|
NM_001009944.3(PKD1):c.7184A>G (p.Asn2395Ser)
|
|
|
NM_001009944.3(PKD1):c.7184dup (p.Asn2395fs)
|
|
|
NM_001009944.3(PKD1):c.7187G>A (p.Cys2396Tyr)
|
|
|
NM_001009944.3(PKD1):c.7192A>C (p.Ser2398Arg)
|
|
|
NM_001009944.3(PKD1):c.7196G>A (p.Gly2399Asp)
|
|
|
NM_001009944.3(PKD1):c.71_81del (p.Gly24fs)
|
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
NM_001009944.3(PKD1):c.7205G>A (p.Arg2402Gln)
|
|
|
NM_001009944.3(PKD1):c.7209+14G>A
|
|
|
NM_001009944.3(PKD1):c.7209+1G>A
|
|
|
NM_001009944.3(PKD1):c.7209+1G>C
|
rs2544784172
|
|
NM_001009944.3(PKD1):c.7209+2T>C
|
|
|
NM_001009944.3(PKD1):c.7209+4_7209+7del
|
|
|
NM_001009944.3(PKD1):c.7209+5G>A
|
rs1596543034
|
|
NM_001009944.3(PKD1):c.7209_7209+1delinsTT
|
rs2544784180
|
|
NM_001009944.3(PKD1):c.7220C>T (p.Ala2407Val)
|
|
|
NM_001009944.3(PKD1):c.7222C>G (p.Arg2408Gly)
|
|
|
NM_001009944.3(PKD1):c.7223G>A (p.Arg2408His)
|
|
|
NM_001009944.3(PKD1):c.7223del (p.Arg2408fs)
|
|
|
NM_001009944.3(PKD1):c.7226C>A (p.Thr2409Lys)
|
|
|
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met)
|
rs1446061270
|
|
NM_001009944.3(PKD1):c.7233C>G (p.Ser2411Arg)
|
|
|
NM_001009944.3(PKD1):c.7236del (p.Asn2412fs)
|
|
|
NM_001009944.3(PKD1):c.7237_7238del (p.Lys2413fs)
|
rs2544782282
|
|
NM_001009944.3(PKD1):c.7241del (p.Thr2414fs)
|
|
|
NM_001009944.3(PKD1):c.7244T>C (p.Leu2415Pro)
|
|
|
NM_001009944.3(PKD1):c.7244T>G (p.Leu2415Arg)
|
|
|
NM_001009944.3(PKD1):c.7249C>G (p.Leu2417Val)
|
|
|
NM_001009944.3(PKD1):c.7249dup (p.Leu2417fs)
|
rs2092345946
|
|
NM_001009944.3(PKD1):c.7250T>C (p.Leu2417Pro)
|
|
|
NM_001009944.3(PKD1):c.7252del (p.Asp2418fs)
|
rs2544782151
|
|
NM_001009944.3(PKD1):c.7253A>T (p.Asp2418Val)
|
|
|
NM_001009944.3(PKD1):c.7260CAC[1] (p.Thr2422del)
|
|
|
NM_001009944.3(PKD1):c.7264A>C (p.Thr2422Pro)
|
|
|
NM_001009944.3(PKD1):c.7265C>A (p.Thr2422Lys)
|
rs1555453210
|
|
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr)
|
rs1555453207
|
|
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe)
|
rs1555453207
|
|
NM_001009944.3(PKD1):c.7271C>A (p.Thr2424Lys)
|
|
|
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg)
|
rs1367567191
|
|
NM_001009944.3(PKD1):c.7274del (p.Gly2425fs)
|
rs1567186399
|
|
NM_001009944.3(PKD1):c.7280C>G (p.Ala2427Gly)
|
rs140494005
|
|
NM_001009944.3(PKD1):c.7280C>T (p.Ala2427Val)
|
rs140494005
|
|
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
|
rs2432403
|
|
NM_001009944.3(PKD1):c.728C>G (p.Ala243Gly)
|
|
|
NM_001009944.3(PKD1):c.728C>T (p.Ala243Val)
|
|
|
NM_001009944.3(PKD1):c.7291C>T (p.Leu2431=)
|
rs772981336
|
|
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln)
|
rs2092344562
|
|
NM_001009944.3(PKD1):c.7295TGC[1] (p.Leu2433del)
|
|
|
NM_001009944.3(PKD1):c.7298T>G (p.Leu2433Arg)
|
|
|
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)
|
rs2544781629
|
|
NM_001009944.3(PKD1):c.7305_7309del (p.Gly2436fs)
|
|
|
NM_001009944.3(PKD1):c.7307_7318del (p.Gly2436_Arg2439del)
|
|
|
NM_001009944.3(PKD1):c.7308C>T (p.Gly2436=)
|
|
|
NM_001009944.3(PKD1):c.7313T>C (p.Leu2438Pro)
|
rs2544781523
|
|
NM_001009944.3(PKD1):c.7315C>T (p.Arg2439Trp)
|
|
|
NM_001009944.3(PKD1):c.7319A>G (p.Asp2440Gly)
|
rs2544781474
|
|
NM_001009944.3(PKD1):c.731G>A (p.Cys244Tyr)
|
|
|
NM_001009944.3(PKD1):c.7323C>T (p.Gly2441=)
|
|
|
NM_001009944.3(PKD1):c.7324G>A (p.Glu2442Lys)
|
rs1171052012
|
|
NM_001009944.3(PKD1):c.7327G>A (p.Gly2443Arg)
|
|
|
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)
|
rs1567186165
|
|
NM_001009944.3(PKD1):c.7333_7359dup (p.Arg2453_Ser2454insThrPheThrLeuThrValLeuGlyArg)
|
|
|
NM_001009944.3(PKD1):c.7335C>T (p.Thr2445=)
|
rs555853583
|
|
NM_001009944.3(PKD1):c.7336_7338del (p.Phe2446del)
|
rs1567186120
|
|
NM_001009944.3(PKD1):c.7340del (p.Thr2447fs)
|
|
|
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=)
|
rs573611925
|
|
NM_001009944.3(PKD1):c.7342C>G (p.Leu2448Val)
|
|
|
NM_001009944.3(PKD1):c.7343T>C (p.Leu2448Pro)
|
|
|
NM_001009944.3(PKD1):c.7343T>G (p.Leu2448Arg)
|
|
|
NM_001009944.3(PKD1):c.7345dup (p.Thr2449fs)
|
rs2151774462
|
|
NM_001009944.3(PKD1):c.7346C>T (p.Thr2449Met)
|
|
|
NM_001009944.3(PKD1):c.7347G>A (p.Thr2449=)
|
|
|
NM_001009944.3(PKD1):c.7350G>T (p.Val2450=)
|
rs2092342494
|
|
NM_001009944.3(PKD1):c.7353G>T (p.Leu2451=)
|
rs1342647727
|
|
NM_001009944.3(PKD1):c.7355G>A (p.Gly2452Asp)
|
rs2092342214
|
|
NM_001009944.3(PKD1):c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG (p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGly)
|
rs2544781129
|
|
NM_001009944.3(PKD1):c.7357C>T (p.Arg2453Cys)
|
|
|
NM_001009944.3(PKD1):c.7361C>T (p.Ser2454Phe)
|
rs751740953
|
|
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.736T>G (p.Ser246Ala)
|
|
|
NM_001009944.3(PKD1):c.7375G>T (p.Gly2459Cys)
|
rs1555453102
|
|
NM_001009944.3(PKD1):c.7376G>A (p.Gly2459Asp)
|
rs2544780975
|
|
NM_001009944.3(PKD1):c.737C>T (p.Ser246Phe)
|
|
|
NM_001009944.3(PKD1):c.7381G>A (p.Ala2461Thr)
|
rs142261601
|
|
NM_001009944.3(PKD1):c.7382C>A (p.Ala2461Asp)
|
|
|
NM_001009944.3(PKD1):c.7384_7385dup (p.Ile2463fs)
|
|
|
NM_001009944.3(PKD1):c.7391G>A (p.Arg2464His)
|
|
|
NM_001009944.3(PKD1):c.7391G>C (p.Arg2464Pro)
|
|
|
NM_001009944.3(PKD1):c.7394_7408dup (p.Arg2469_Pro2470insLeuSerProAsnArg)
|
|
|
NM_001009944.3(PKD1):c.73_74delinsT (p.Gly25fs)
|
|
|
NM_001009944.3(PKD1):c.7401dup (p.Asn2468fs)
|
|
|
NM_001009944.3(PKD1):c.7404C>G (p.Asn2468Lys)
|
rs1320087186
|
|
NM_001009944.3(PKD1):c.7409C>A (p.Pro2470Gln)
|
rs539143745
|
|
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu)
|
rs539143745
|
|
NM_001009944.3(PKD1):c.7411C>A (p.Pro2471Thr)
|
rs2151774021
|
|
NM_001009944.3(PKD1):c.7411C>T (p.Pro2471Ser)
|
rs2151774021
|
|
NM_001009944.3(PKD1):c.7415_7416insC (p.Ser2475fs)
|
|
|
NM_001009944.3(PKD1):c.741_742dup (p.Cys248fs)
|
rs1567218104
|
|
NM_001009944.3(PKD1):c.7421_7430del (p.Gly2474fs)
|
|
|
NM_001009944.3(PKD1):c.7421del (p.Gly2474fs)
|
rs1237714286
|
|
NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)
|
|
|
NM_001009944.3(PKD1):c.7422del (p.Ser2475fs)
|
rs2544780499
|
|
NM_001009944.3(PKD1):c.7425T>C (p.Ser2475=)
|
rs2544780481
|
|
NM_001009944.3(PKD1):c.7426T>A (p.Cys2476Ser)
|
|
|
NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter)
|
rs1453883641
|
|
NM_001009944.3(PKD1):c.7428C>G (p.Cys2476Trp)
|
|
|
NM_001009944.3(PKD1):c.7429del (p.Arg2477fs)
|
|
|
NM_001009944.3(PKD1):c.7446C>G (p.Gly2482=)
|
rs775215483
|
|
NM_001009944.3(PKD1):c.7446C>T (p.Gly2482=)
|
|
|
NM_001009944.3(PKD1):c.7447G>A (p.Ala2483Thr)
|
|
|
NM_001009944.3(PKD1):c.744C>A (p.Cys248Ter)
|
rs762278346
|
|
NM_001009944.3(PKD1):c.744C>G (p.Cys248Trp)
|
|
|
NM_001009944.3(PKD1):c.7457C>G (p.Ala2486Gly)
|
rs547751652
|
|
NM_001009944.3(PKD1):c.7457C>T (p.Ala2486Val)
|
rs547751652
|
|
NM_001009944.3(PKD1):c.7469dup (p.Val2491fs)
|
|
|
NM_001009944.3(PKD1):c.7470_7475del (p.Lys2490_His2492delinsAsn)
|
rs1596541230
|
|
NM_001009944.3(PKD1):c.7483T>A (p.Cys2495Ser)
|
rs2092338268
|
|
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg)
|
rs2092338268
|
|
NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr)
|
rs2544780036
|
|
NM_001009944.3(PKD1):c.7485C>A (p.Cys2495Ter)
|
|
|
NM_001009944.3(PKD1):c.7486A>T (p.Thr2496Ser)
|
|
|
NM_001009944.3(PKD1):c.7487del (p.Thr2496fs)
|
|
|
NM_001009944.3(PKD1):c.7489+12C>T
|
|
|
NM_001009944.3(PKD1):c.7489+1G>A
|
rs2544779978
|
|
NM_001009944.3(PKD1):c.7489+2T>C
|
|
|
NM_001009944.3(PKD1):c.7489+5G>A
|
rs2092337963
|
|
NM_001009944.3(PKD1):c.7489+8C>T
|
|
|
NM_001009944.3(PKD1):c.7490-11C>G
|
|
|
NM_001009944.3(PKD1):c.7490-13G>T
|
|
|
NM_001009944.3(PKD1):c.7490-16G>A
|
|
|
NM_001009944.3(PKD1):c.7490-1G>A
|
|
|
NM_001009944.3(PKD1):c.7490-1G>C
|
|
|
NM_001009944.3(PKD1):c.7490-2A>G
|
|
|
NM_001009944.3(PKD1):c.7490-2A>T
|
rs1567185163
|
|
NM_001009944.3(PKD1):c.7490-3C>G
|
|
|
NM_001009944.3(PKD1):c.7490-9G>A
|
|
|
NM_001009944.3(PKD1):c.7491C>T (p.Gly2497=)
|
|
|
NM_001009944.3(PKD1):c.7493G>A (p.Trp2498Ter)
|
rs1567185138
|
|
NM_001009944.3(PKD1):c.7495C>T (p.His2499Tyr)
|
rs1439713011
|
|
NM_001009944.3(PKD1):c.7495del (p.His2499fs)
|
rs2092333316
|
|
NM_001009944.3(PKD1):c.7496A>G (p.His2499Arg)
|
|
|
NM_001009944.3(PKD1):c.7499A>T (p.Asp2500Val)
|
rs1596540533
|
|
NM_001009944.3(PKD1):c.74del (p.Gly25fs)
|
|
|
NM_001009944.3(PKD1):c.74dup (p.Gly27fs)
|
|
|
NM_001009944.3(PKD1):c.7500C>T (p.Asp2500=)
|
|
|
NM_001009944.3(PKD1):c.7501G>A (p.Ala2501Thr)
|
|
|
NM_001009944.3(PKD1):c.7503G>A (p.Ala2501=)
|
|
|
NM_001009944.3(PKD1):c.7508_7518del (p.Asp2503fs)
|
|
|
NM_001009944.3(PKD1):c.750_751delinsA (p.Pro252fs)
|
|
|
NM_001009944.3(PKD1):c.7517C>A (p.Ala2506Asp)
|
|
|
NM_001009944.3(PKD1):c.7519C>T (p.Pro2507Ser)
|
rs2092332479
|
|
NM_001009944.3(PKD1):c.7525_7539dup (p.Val2509_Leu2513dup)
|
rs2092331813
|
|
NM_001009944.3(PKD1):c.7534del (p.Leu2512fs)
|
rs2544778476
|
|
NM_001009944.3(PKD1):c.7535T>G (p.Leu2512Arg)
|
rs2151772458
|
|
NM_001009944.3(PKD1):c.7543C>T (p.Arg2515Trp)
|
|
|
NM_001009944.3(PKD1):c.7544G>A (p.Arg2515Gln)
|
|
|
NM_001009944.3(PKD1):c.7544G>C (p.Arg2515Pro)
|
rs2432404
|
|
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.7547G>A (p.Arg2516His)
|
|
|
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His)
|
rs781066020
|
|
NM_001009944.3(PKD1):c.7555C>G (p.Gln2519Glu)
|
|
|
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter)
|
rs2151772321
|
|
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg)
|
rs771788496
|
|
NM_001009944.3(PKD1):c.755C>T (p.Pro252Leu)
|
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
NM_001009944.3(PKD1):c.7561C>T (p.His2521Tyr)
|
|
|
NM_001009944.3(PKD1):c.7562A>G (p.His2521Arg)
|
rs202162543
|
|
NM_001009944.3(PKD1):c.7566C>A (p.Cys2522Ter)
|
|
|
NM_001009944.3(PKD1):c.7566C>T (p.Cys2522=)
|
|
|
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)
|
rs1555452876
|
|
NM_001009944.3(PKD1):c.7570G>C (p.Glu2524Gln)
|
|
|
NM_001009944.3(PKD1):c.7575_7576del (p.Phe2525fs)
|
|
|
NM_001009944.3(PKD1):c.7577G>T (p.Cys2526Phe)
|
|
|
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs)
|
rs2151772170
|
|
NM_001009944.3(PKD1):c.7584C>G (p.Tyr2528Ter)
|
|
|
NM_001009944.3(PKD1):c.7587G>C (p.Lys2529Asn)
|
rs139652960
|
|
NM_001009944.3(PKD1):c.7588G>A (p.Gly2530Ser)
|
|
|
NM_001009944.3(PKD1):c.7589G>A (p.Gly2530Asp)
|
|
|
NM_001009944.3(PKD1):c.7589G>T (p.Gly2530Val)
|
|
|
NM_001009944.3(PKD1):c.7590C>G (p.Gly2530=)
|
|
|
NM_001009944.3(PKD1):c.7590C>T (p.Gly2530=)
|
|
|
NM_001009944.3(PKD1):c.7591dup (p.Ser2531fs)
|
|
|
NM_001009944.3(PKD1):c.7597_7598del (p.Ser2533fs)
|
rs2544777946
|
|
NM_001009944.3(PKD1):c.7598C>A (p.Ser2533Tyr)
|
|
|
NM_001009944.3(PKD1):c.7605C>A (p.Tyr2535Ter)
|
|
|
NM_001009944.3(PKD1):c.7615del (p.Leu2539fs)
|
rs2544777760
|
|
NM_001009944.3(PKD1):c.7616T>G (p.Leu2539Arg)
|
rs2151771879
|
|
NM_001009944.3(PKD1):c.7618C>A (p.Pro2540Thr)
|
|
|
NM_001009944.3(PKD1):c.7622C>G (p.Pro2541Arg)
|
rs538031465
|
|
NM_001009944.3(PKD1):c.7622del (p.Pro2541fs)
|
rs1555452849
|
|
NM_001009944.3(PKD1):c.7622dup (p.Arg2544fs)
|
|
|
NM_001009944.3(PKD1):c.7623G>A (p.Pro2541=)
|
|
|
NM_001009944.3(PKD1):c.7625G>A (p.Gly2542Asp)
|
rs2544777646
|
|
NM_001009944.3(PKD1):c.7625G>T (p.Gly2542Val)
|
|
|
NM_001009944.3(PKD1):c.7633C>T (p.Pro2545Ser)
|
|
|
NM_001009944.3(PKD1):c.7634C>T (p.Pro2545Leu)
|
rs2544777607
|
|
NM_001009944.3(PKD1):c.7637A>G (p.His2546Arg)
|
|
|
NM_001009944.3(PKD1):c.7638dup (p.Phe2547fs)
|
rs2544777576
|
|
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter)
|
rs28369051
|
|
NM_001009944.3(PKD1):c.7646_7648del (p.Val2549del)
|
rs1567184420
|
|
NM_001009944.3(PKD1):c.764C>G (p.Pro255Arg)
|
|
|
NM_001009944.3(PKD1):c.7650C>T (p.Gly2550=)
|
|
|
NM_001009944.3(PKD1):c.7655C>G (p.Ala2552Gly)
|
rs1596539967
|
|
NM_001009944.3(PKD1):c.7655_7658dup (p.Val2554fs)
|
|
|
NM_001009944.3(PKD1):c.7657G>A (p.Val2553Met)
|
|
|
NM_001009944.3(PKD1):c.7657G>T (p.Val2553Leu)
|
rs750616566
|
|
NM_001009944.3(PKD1):c.7663G>A (p.Val2555Met)
|
rs2151771585
|
|
NM_001009944.3(PKD1):c.7664T>C (p.Val2555Ala)
|
|
|
NM_001009944.3(PKD1):c.7664T>G (p.Val2555Gly)
|
rs2544777388
|
|
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter)
|
rs1567184366
|
|
NM_001009944.3(PKD1):c.7667A>C (p.Gln2556Pro)
|
rs2544777358
|
|
NM_001009944.3(PKD1):c.7669G>T (p.Asp2557Tyr)
|
rs2151771553
|
|
NM_001009944.3(PKD1):c.7672C>T (p.Gln2558Ter)
|
rs2544777318
|
|
NM_001009944.3(PKD1):c.7679G>A (p.Gly2560Glu)
|
|
|
NM_001009944.3(PKD1):c.7679_7690del (p.Gly2560_Val2563del)
|
|
|
NM_001009944.3(PKD1):c.7684G>A (p.Ala2562Thr)
|
|
|
NM_001009944.3(PKD1):c.7694C>T (p.Ala2565Val)
|
|
|
NM_001009944.3(PKD1):c.7700A>G (p.Asn2567Ser)
|
|
|
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly)
|
rs2092327341
|
|
NM_001009944.3(PKD1):c.7703+1G>A
|
|
|
NM_001009944.3(PKD1):c.7703+1G>T
|
|
|
NM_001009944.3(PKD1):c.7703+2T>A
|
|
|
NM_001009944.3(PKD1):c.7703+2T>G
|
|
|
NM_001009944.3(PKD1):c.7703+5G>C
|
|
|
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys)
|
rs2092327300
|
|
NM_001009944.3(PKD1):c.7703G>T (p.Arg2568Met)
|
|
|
NM_001009944.3(PKD1):c.7704-1G>A
|
rs2544776487
|
|
NM_001009944.3(PKD1):c.7704-1G>C
|
rs2544776487
|
|
NM_001009944.3(PKD1):c.7704-2A>G
|
rs2544776491
|
|
NM_001009944.3(PKD1):c.7704-2_7712del
|
rs1555452738
|
|
NM_001009944.3(PKD1):c.7704-4G>T
|
rs778212840
|
|
NM_001009944.3(PKD1):c.7704delG
|
|
|
NM_001009944.3(PKD1):c.7706_10050+2dup
|
|
|
NM_001009944.3(PKD1):c.7709T>A (p.Leu2570Ter)
|
|
|
NM_001009944.3(PKD1):c.7709T>C (p.Leu2570Ser)
|
|
|
NM_001009944.3(PKD1):c.7712C>T (p.Ala2571Val)
|
rs756838066
|
|
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val)
|
rs1555452734
|
|
NM_001009944.3(PKD1):c.7717A>C (p.Thr2573Pro)
|
|
|
NM_001009944.3(PKD1):c.771del (p.Thr258fs)
|
|
|
NM_001009944.3(PKD1):c.771dup (p.Thr258fs)
|
rs2544879772
|
|
NM_001009944.3(PKD1):c.7721_7724del (p.Leu2574fs)
|
rs2544776290
|
|
NM_001009944.3(PKD1):c.7725A>G (p.Pro2575=)
|
rs1466412515
|
|
NM_001009944.3(PKD1):c.7729C>G (p.Pro2577Ala)
|
rs775466134
|
|
NM_001009944.3(PKD1):c.7729C>T (p.Pro2577Ser)
|
|
|
NM_001009944.3(PKD1):c.772del (p.Thr258fs)
|
|
|
NM_001009944.3(PKD1):c.7730C>A (p.Pro2577His)
|
|
|
NM_001009944.3(PKD1):c.7734C>G (p.Asn2578Lys)
|
|
|
NM_001009944.3(PKD1):c.7734C>T (p.Asn2578=)
|
rs776513110
|
|
NM_001009944.3(PKD1):c.7735_7737del (p.Gly2579del)
|
rs748240352
|
|
NM_001009944.3(PKD1):c.7738A>C (p.Ser2580Arg)
|
|
|
NM_001009944.3(PKD1):c.7738A>G (p.Ser2580Gly)
|
|
|
NM_001009944.3(PKD1):c.7740C>T (p.Ser2580=)
|
|
|
NM_001009944.3(PKD1):c.7742C>T (p.Ala2581Val)
|
rs150516444
|
|
NM_001009944.3(PKD1):c.7743_7767dup (p.Gly2590fs)
|
rs2092322668
|
|
NM_001009944.3(PKD1):c.7749del (p.Leu2584fs)
|
rs2092323231
|
|
NM_001009944.3(PKD1):c.7751_7754del (p.Leu2584fs)
|
rs1567183784
|
|
NM_001009944.3(PKD1):c.7754_7755del (p.Thr2585fs)
|
|
|
NM_001009944.3(PKD1):c.7759T>C (p.Trp2587Arg)
|
|
|
NM_001009944.3(PKD1):c.7761G>A (p.Trp2587Ter)
|
|
|
NM_001009944.3(PKD1):c.7762C>G (p.Leu2588Val)
|
rs1168835336
|
|
NM_001009944.3(PKD1):c.7781G>A (p.Ser2594Asn)
|
|
|
NM_001009944.3(PKD1):c.7781G>C (p.Ser2594Thr)
|
|
|
NM_001009944.3(PKD1):c.7784T>A (p.Val2595Glu)
|
|
|
NM_001009944.3(PKD1):c.7784_7785dup (p.Leu2596fs)
|
rs1567183633
|
|
NM_001009944.3(PKD1):c.7789C>G (p.Pro2597Ala)
|
|
|
NM_001009944.3(PKD1):c.7795del (p.Leu2599fs)
|
|
|
NM_001009944.3(PKD1):c.7796T>G (p.Leu2599Arg)
|
rs2092321685
|
|
NM_001009944.3(PKD1):c.7804C>T (p.Gln2602Ter)
|
rs2092321430
|
|
NM_001009944.3(PKD1):c.7807G>T (p.Ala2603Ser)
|
|
|
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter)
|
rs2092321142
|
|
NM_001009944.3(PKD1):c.7817del (p.Gln2606fs)
|
|
|
NM_001009944.3(PKD1):c.7818dup (p.His2607fs)
|
rs1555452653
|
|
NM_001009944.3(PKD1):c.7821_7825del (p.Val2608fs)
|
|
|
NM_001009944.3(PKD1):c.7825_7827del (p.Ile2609del)
|
rs2544775146
|
|
NM_001009944.3(PKD1):c.7827del (p.Ile2609fs)
|
|
|
NM_001009944.3(PKD1):c.7828G>A (p.Glu2610Lys)
|
rs774694720
|
|
NM_001009944.3(PKD1):c.7829A>C (p.Glu2610Ala)
|
rs768882400
|
|
NM_001009944.3(PKD1):c.782G>A (p.Gly261Asp)
|
|
|
NM_001009944.3(PKD1):c.782del (p.Gly261fs)
|
rs2544879677
|
|
NM_001009944.3(PKD1):c.7832_7835dup (p.Ala2614fs)
|
|
|
NM_001009944.3(PKD1):c.7832_7837delinsGC (p.Tyr2611fs)
|
|
|
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter)
|
rs138871063
|
|
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)
|
rs2544775084
|
|
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del)
|
rs2544775052
|
|
NM_001009944.3(PKD1):c.7843C>G (p.Leu2615Val)
|
|
|
NM_001009944.3(PKD1):c.7843C>T (p.Leu2615=)
|
rs771676768
|
|
NM_001009944.3(PKD1):c.7844T>C (p.Leu2615Pro)
|
rs2151769881
|
|
NM_001009944.3(PKD1):c.7844_7851del (p.Leu2615fs)
|
|
|
NM_001009944.3(PKD1):c.7845G>A (p.Leu2615=)
|
|
|
NM_001009944.3(PKD1):c.7849A>G (p.Thr2617Ala)
|
|
|
NM_001009944.3(PKD1):c.7856T>G (p.Leu2619Arg)
|
rs1596538804
|
|
NM_001009944.3(PKD1):c.7859dup (p.Asn2620fs)
|
|
|
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter)
|
rs762003393
|
|
NM_001009944.3(PKD1):c.7863+1G>A
|
|
|
NM_001009944.3(PKD1):c.7863+1del
|
rs2092319664
|
|
NM_001009944.3(PKD1):c.7863+5G>C
|
rs2092319525
|
|
NM_001009944.3(PKD1):c.7863G>A (p.Glu2621=)
|
|
|
NM_001009944.3(PKD1):c.7864-1G>A
|
rs2092305301
|
|
NM_001009944.3(PKD1):c.7864-1G>T
|
rs2092305301
|
|
NM_001009944.3(PKD1):c.7864-2A>T
|
|
|
NM_001009944.3(PKD1):c.7864-3_7896del
|
|
|
NM_001009944.3(PKD1):c.7864-43_7864-16del
|
rs2544770460
|
|
NM_001009944.3(PKD1):c.7864T>A (p.Tyr2622Asn)
|
|
|
NM_001009944.3(PKD1):c.7867G>A (p.Glu2623Lys)
|
rs2092305182
|
|
NM_001009944.3(PKD1):c.7881C>G (p.Asp2627Glu)
|
rs759121558
|
|
NM_001009944.3(PKD1):c.7881C>T (p.Asp2627=)
|
rs759121558
|
|
NM_001009944.3(PKD1):c.7884_7903dup (p.Glu2635fs)
|
rs2544769929
|
|
NM_001009944.3(PKD1):c.7887_7888insTGTGGCG (p.Ala2630fs)
|
rs2544770043
|
|
NM_001009944.3(PKD1):c.7890A>C (p.Ala2630=)
|
|
|
NM_001009944.3(PKD1):c.7892_7911del (p.Glu2631fs)
|
|
|
NM_001009944.3(PKD1):c.7894C>T (p.Pro2632Ser)
|
|
|
NM_001009944.3(PKD1):c.789_843del (p.Leu264fs)
|
rs1596590005
|
|
NM_001009944.3(PKD1):c.78_96dup (p.Cys33fs)
|
rs2544960532
|
|
NM_001009944.3(PKD1):c.78del (p.Arg28fs)
|
rs2092941432
|
|
NM_001009944.3(PKD1):c.7902C>T (p.His2634=)
|
|
|
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)
|
rs778979740
|
|
NM_001009944.3(PKD1):c.7904dup (p.Arg2636fs)
|
rs1596536873
|
|
NM_001009944.3(PKD1):c.7907G>T (p.Arg2636Leu)
|
|
|
NM_001009944.3(PKD1):c.790C>T (p.Leu264Phe)
|
|
|
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)
|
rs750913623
|
|
NM_001009944.3(PKD1):c.7916G>A (p.Arg2639Gln)
|
|
|
NM_001009944.3(PKD1):c.7919C>T (p.Ala2640Val)
|
|
|
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.7928G>C (p.Arg2643Pro)
|
|
|
NM_001009944.3(PKD1):c.7941G>A (p.Thr2647=)
|
|
|
NM_001009944.3(PKD1):c.7948_7949del (p.Leu2650fs)
|
rs2544769485
|
|
NM_001009944.3(PKD1):c.7949T>C (p.Leu2650Pro)
|
rs2092302943
|
|
NM_001009944.3(PKD1):c.7949T>G (p.Leu2650Arg)
|
rs2092302943
|
|
NM_001009944.3(PKD1):c.7951G>T (p.Val2651Leu)
|
|
|
NM_001009944.3(PKD1):c.7951del (p.Val2651fs)
|
rs2151766847
|
|
NM_001009944.3(PKD1):c.7955C>G (p.Ser2652Cys)
|
|
|
NM_001009944.3(PKD1):c.7955C>T (p.Ser2652Phe)
|
|
|
NM_001009944.3(PKD1):c.7956C>A (p.Ser2652=)
|
|
|
NM_001009944.3(PKD1):c.7957_7958del (p.Leu2653fs)
|
rs2151766800
|
|
NM_001009944.3(PKD1):c.7963G>T (p.Val2655Phe)
|
|
|
NM_001009944.3(PKD1):c.7969A>C (p.Thr2657Pro)
|
rs557020044
|
|
NM_001009944.3(PKD1):c.7969A>G (p.Thr2657Ala)
|
|
|
NM_001009944.3(PKD1):c.796C>T (p.Gln266Ter)
|
rs2151823901
|
|
NM_001009944.3(PKD1):c.7970C>G (p.Thr2657Ser)
|
|
|
NM_001009944.3(PKD1):c.7973_7974del (p.Val2658fs)
|
rs2092302256
|
|
NM_001009944.3(PKD1):c.7973dup (p.Asp2659fs)
|
|
|
NM_001009944.3(PKD1):c.7978G>A (p.Asp2660Asn)
|
rs2544769197
|
|
NM_001009944.3(PKD1):c.7978G>T (p.Asp2660Tyr)
|
|
|
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.7996G>A (p.Ala2666Thr)
|
|
|
NM_001009944.3(PKD1):c.7999G>A (p.Ala2667Thr)
|
|
|
NM_001009944.3(PKD1):c.8000C>T (p.Ala2667Val)
|
|
|
NM_001009944.3(PKD1):c.8005del (p.Ala2669fs)
|
rs1596536546
|
|
NM_001009944.3(PKD1):c.8006C>T (p.Ala2669Val)
|
|
|
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter)
|
rs2092301272
|
|
NM_001009944.3(PKD1):c.8013C>T (p.Cys2671=)
|
|
|
NM_001009944.3(PKD1):c.8016+12C>T
|
|
|
NM_001009944.3(PKD1):c.8016+13del
|
|
|
NM_001009944.3(PKD1):c.8016+1G>A
|
rs2544768869
|
|
NM_001009944.3(PKD1):c.8016+1dup
|
|
|
NM_001009944.3(PKD1):c.8016+2T>C
|
rs1596536505
|
|
NM_001009944.3(PKD1):c.8016+3_8016+7del
|
|
|
NM_001009944.3(PKD1):c.8016+5G>T
|
|
|
NM_001009944.3(PKD1):c.8017-10C>T
|
|
|
NM_001009944.3(PKD1):c.8017-11G>A
|
rs2092264285
|
|
NM_001009944.3(PKD1):c.8017-1G>C
|
rs2092263886
|
|
NM_001009944.3(PKD1):c.8017-1_8161+1del
|
|
|
NM_001009944.3(PKD1):c.8017-1dup
|
rs1555452047
|
|
NM_001009944.3(PKD1):c.8017-2A>G
|
rs1567180640
|
|
NM_001009944.3(PKD1):c.8017-3C>G
|
rs780785813
|
|
NM_001009944.3(PKD1):c.8017-9T>G
|
|
|
NM_001009944.3(PKD1):c.8018_8019del
|
|
|
NM_001009944.3(PKD1):c.8022del (p.Ser2675fs)
|
rs2092263697
|
|
NM_001009944.3(PKD1):c.8024G>C (p.Ser2675Thr)
|
|
|
NM_001009944.3(PKD1):c.8025dup (p.Arg2676fs)
|
|
|
NM_001009944.3(PKD1):c.8029G>A (p.Glu2677Lys)
|
rs2544758418
|
|
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile)
|
rs1269793804
|
|
NM_001009944.3(PKD1):c.8032C>T (p.Leu2678Phe)
|
|
|
NM_001009944.3(PKD1):c.8034C>G (p.Leu2678=)
|
rs574400883
|
|
NM_001009944.3(PKD1):c.8035G>A (p.Val2679Ile)
|
|
|
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.8045C>G (p.Ser2682Trp)
|
rs151308544
|
|
NM_001009944.3(PKD1):c.8045dup (p.Cys2683fs)
|
rs2544758303
|
|
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter)
|
rs377029031
|
|
NM_001009944.3(PKD1):c.8049C>G (p.Cys2683Trp)
|
|
|
NM_001009944.3(PKD1):c.8054_8055delinsC (p.Lys2685fs)
|
|
|
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter)
|
rs779516086
|
|
NM_001009944.3(PKD1):c.8065C>T (p.His2689Tyr)
|
|
|
NM_001009944.3(PKD1):c.8068_8102dup (p.Glu2701_Thr2702insSerTrpArgProTer)
|
|
|
NM_001009944.3(PKD1):c.8072T>A (p.Leu2691Gln)
|
rs2544758004
|
|
NM_001009944.3(PKD1):c.8072T>G (p.Leu2691Arg)
|
rs2544758004
|
|
NM_001009944.3(PKD1):c.807C>G (p.Phe269Leu)
|
rs2092670827
|
|
NM_001009944.3(PKD1):c.8080A>G (p.Met2694Val)
|
|
|
NM_001009944.3(PKD1):c.8084T>A (p.Met2695Lys)
|
|
|
NM_001009944.3(PKD1):c.8086C>T (p.Leu2696Phe)
|
rs143923681
|
|
NM_001009944.3(PKD1):c.8087T>G (p.Leu2696Arg)
|
rs201238819
|
|
NM_001009944.3(PKD1):c.8091_8093del (p.Ile2697_Leu2698delinsMet)
|
rs2092261350
|
|
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter)
|
rs1222094213
|
|
NM_001009944.3(PKD1):c.8110G>T (p.Ala2704Ser)
|
|
|
NM_001009944.3(PKD1):c.8112_8132del (p.Gly2705_Ala2711del)
|
rs1596532130
|
|
NM_001009944.3(PKD1):c.8115C>T (p.Gly2705=)
|
|
|
NM_001009944.3(PKD1):c.8116_8125del (p.Thr2706fs)
|
rs2092260381
|
|
NM_001009944.3(PKD1):c.8117C>T (p.Thr2706Ile)
|
|
|
NM_001009944.3(PKD1):c.8124G>A (p.Thr2708=)
|
|
|
NM_001009944.3(PKD1):c.8125C>T (p.Pro2709Ser)
|
|
|
NM_001009944.3(PKD1):c.8131G>A (p.Ala2711Thr)
|
|
|
NM_001009944.3(PKD1):c.8137G>A (p.Gly2713Arg)
|
|
|
NM_001009944.3(PKD1):c.8137G>T (p.Gly2713Ter)
|
|
|
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu)
|
rs1395231369
|
|
NM_001009944.3(PKD1):c.8144_8151dup (p.Asn2718fs)
|
|
|
NM_001009944.3(PKD1):c.8150delinsATCCG (p.Leu2717fs)
|
|
|
NM_001009944.3(PKD1):c.8152_8156del (p.Asn2718fs)
|
|
|
NM_001009944.3(PKD1):c.8155A>T (p.Ile2719Phe)
|
|
|
NM_001009944.3(PKD1):c.8156T>C (p.Ile2719Thr)
|
rs2092259288
|
|
NM_001009944.3(PKD1):c.8158dup (p.Thr2720fs)
|
|
|
NM_001009944.3(PKD1):c.8161+1G>T
|
rs2544757259
|
|
NM_001009944.3(PKD1):c.8161+1dup
|
|
|
NM_001009944.3(PKD1):c.8161+2T>G
|
|
|
NM_001009944.3(PKD1):c.8161+2_8161+3delinsGT
|
|
|
NM_001009944.3(PKD1):c.8161+40G>A
|
rs2092255350
|
|
NM_001009944.3(PKD1):c.8161+6G>T
|
|
|
NM_001009944.3(PKD1):c.8161+70C>A
|
rs566524677
|
|
NM_001009944.3(PKD1):c.8161+7C>T
|
rs371902103
|
|
NM_001009944.3(PKD1):c.8162-13C>G
|
rs766749006
|
|
NM_001009944.3(PKD1):c.8162-13C>T
|
|
|
NM_001009944.3(PKD1):c.8162-1G>A
|
rs1555451430
|
|
NM_001009944.3(PKD1):c.8162-2A>G
|
rs2092209753
|
|
NM_001009944.3(PKD1):c.8162-37C>T
|
rs9938566
|
|
NM_001009944.3(PKD1):c.8162-82del
|
rs1174901884
|
|
NM_001009944.3(PKD1):c.816C>A (p.Ser272=)
|
|
|
NM_001009944.3(PKD1):c.8171T>A (p.Ile2724Asn)
|
|
|
NM_001009944.3(PKD1):c.8172C>T (p.Ile2724=)
|
|
|
NM_001009944.3(PKD1):c.8180C>T (p.Ala2727Val)
|
rs746952322
|
|
NM_001009944.3(PKD1):c.8183G>T (p.Ser2728Ile)
|
|
|
NM_001009944.3(PKD1):c.8184C>T (p.Ser2728=)
|
rs772197330
|
|
NM_001009944.3(PKD1):c.8186C>A (p.Ser2729Ter)
|
|
|
NM_001009944.3(PKD1):c.8188G>T (p.Asp2730Tyr)
|
|
|
NM_001009944.3(PKD1):c.818C>T (p.Pro273Leu)
|
|
|
NM_001009944.3(PKD1):c.8192_8193del (p.Val2731fs)
|
|
|
NM_001009944.3(PKD1):c.8197G>C (p.Ala2733Pro)
|
|
|
NM_001009944.3(PKD1):c.81del (p.Arg28fs)
|
rs2544960575
|
|
NM_001009944.3(PKD1):c.8200_8204delinsACACT (p.Pro2734_Gln2735delinsThrLeu)
|
rs2092207908
|
|
NM_001009944.3(PKD1):c.8201del (p.Pro2734fs)
|
|
|
NM_001009944.3(PKD1):c.8203C>T (p.Gln2735Ter)
|
|
|
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.8207C>G (p.Pro2736Arg)
|
rs760592410
|
|
NM_001009944.3(PKD1):c.8218G>A (p.Gly2740Arg)
|
|
|
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)
|
rs1555451368
|
|
NM_001009944.3(PKD1):c.8222C>G (p.Ala2741Gly)
|
|
|
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.8239A>G (p.Met2747Val)
|
|
|
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs)
|
rs1596527579
|
|
NM_001009944.3(PKD1):c.823del (p.Ala275fs)
|
|
|
NM_001009944.3(PKD1):c.8240T>C (p.Met2747Thr)
|
|
|
NM_001009944.3(PKD1):c.8242G>C (p.Val2748Leu)
|
|
|
NM_001009944.3(PKD1):c.8248T>C (p.Ser2750Pro)
|
|
|
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter)
|
rs2092205600
|
|
NM_001009944.3(PKD1):c.8257_8260del (p.Tyr2753fs)
|
|
|
NM_001009944.3(PKD1):c.825del (p.Thr276fs)
|
|
|
NM_001009944.3(PKD1):c.8262C>A (p.Asn2754Lys)
|
|
|
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer)
|
rs2151756041
|
|
NM_001009944.3(PKD1):c.8272G>C (p.Ala2758Pro)
|
rs2092204988
|
|
NM_001009944.3(PKD1):c.8272_8283del (p.Ala2758_Arg2761del)
|
rs2544746064
|
|
NM_001009944.3(PKD1):c.8273C>T (p.Ala2758Val)
|
|
|
NM_001009944.3(PKD1):c.8274C>T (p.Ala2758=)
|
|
|
NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro)
|
rs2544746151
|
|
NM_001009944.3(PKD1):c.8279T>G (p.Met2760Arg)
|
rs879809222
|
|
NM_001009944.3(PKD1):c.8279_8291delinsCGCCCATCCTCAC (p.Met2760_Met2764delinsThrProIleLeuThr)
|
|
|
NM_001009944.3(PKD1):c.8279_8334delinsCGCCCATCCTCACGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGT (p.Met2760_Met2764delinsThrProIleLeuThr)
|
rs2544745492
|
|
NM_001009944.3(PKD1):c.827C>G (p.Thr276Ser)
|
|
|
NM_001009944.3(PKD1):c.827_830del (p.Thr276fs)
|
rs2092670456
|
|
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.8287_8289del (p.Leu2763del)
|
rs1555451280
|
|
NM_001009944.3(PKD1):c.8288T>C (p.Leu2763Pro)
|
rs2092204260
|
|
NM_001009944.3(PKD1):c.8290_8293dup (p.Arg2765fs)
|
|
|
NM_001009944.3(PKD1):c.8291T>A (p.Met2764Lys)
|
rs1596527405
|
|
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)
|
rs1596527405
|
|
NM_001009944.3(PKD1):c.8299C>G (p.Arg2767Gly)
|
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
NM_001009944.3(PKD1):c.8299_8310del (p.Arg2767_Asn2770del)
|
|
|
NM_001009944.3(PKD1):c.8299dup (p.Arg2767fs)
|
rs2151755878
|
|
NM_001009944.3(PKD1):c.82C>A (p.Arg28Ser)
|
rs963532477
|
|
NM_001009944.3(PKD1):c.82C>T (p.Arg28Cys)
|
|
|
NM_001009944.3(PKD1):c.8300G>C (p.Arg2767Pro)
|
rs770080914
|
|
NM_001009944.3(PKD1):c.8301C>T (p.Arg2767=)
|
rs759839267
|
|
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu)
|
rs1456510041
|
|
NM_001009944.3(PKD1):c.8302_8305del (p.Val2768fs)
|
|
|
NM_001009944.3(PKD1):c.8303T>A (p.Val2768Glu)
|
rs2544745849
|
|
NM_001009944.3(PKD1):c.8304_8326del (p.Leu2769fs)
|
|
|
NM_001009944.3(PKD1):c.8305_8310dup (p.Asn2770_Glu2771insLeuAsn)
|
rs2544745787
|
|
NM_001009944.3(PKD1):c.8308_8310del (p.Asn2770del)
|
rs2092203060
|
|
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs)
|
rs2092202856
|
|
NM_001009944.3(PKD1):c.8320_8321del (p.Leu2774fs)
|
rs2544745650
|
|
NM_001009944.3(PKD1):c.8320del (p.Pro2773_Leu2774insTer)
|
rs2092202749
|
|
NM_001009944.3(PKD1):c.8323_8325dup (p.Thr2775_Leu2776insThr)
|
|
|
NM_001009944.3(PKD1):c.8324_8325insA (p.Leu2776fs)
|
rs2544745612
|
|
NM_001009944.3(PKD1):c.8326_8344dup (p.Val2782fs)
|
|
|
NM_001009944.3(PKD1):c.8327T>C (p.Leu2776Pro)
|
|
|
NM_001009944.3(PKD1):c.8327_8330del (p.Leu2776fs)
|
|
|
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
|
rs2544745465
|
|
NM_001009944.3(PKD1):c.8332_8344dup (p.Val2782fs)
|
rs2544745408
|
|
NM_001009944.3(PKD1):c.8333del (p.Gly2778fs)
|
rs1567178000
|
|
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs)
|
rs1567178000
|
|
NM_001009944.3(PKD1):c.8337_8366delinsTC (p.Glu2779fs)
|
|
|
NM_001009944.3(PKD1):c.8341_8352del (p.Ile2781_Gln2784del)
|
|
|
NM_001009944.3(PKD1):c.8343del (p.Ile2781fs)
|
|
|
NM_001009944.3(PKD1):c.8350C>T (p.Gln2784Ter)
|
rs2544745346
|
|
NM_001009944.3(PKD1):c.8353G>C (p.Gly2785Arg)
|
rs2151755659
|
|
NM_001009944.3(PKD1):c.8354G>A (p.Gly2785Asp)
|
rs2544745312
|
|
NM_001009944.3(PKD1):c.8355C>T (p.Gly2785=)
|
rs2544745305
|
|
NM_001009944.3(PKD1):c.8356A>G (p.Lys2786Glu)
|
rs2544745289
|
|
NM_001009944.3(PKD1):c.8359C>G (p.Arg2787Gly)
|
|
|
NM_001009944.3(PKD1):c.8360G>A (p.Arg2787His)
|
|
|
NM_001009944.3(PKD1):c.8360G>C (p.Arg2787Pro)
|
rs556480600
|
|
NM_001009944.3(PKD1):c.8363C>A (p.Ser2788Ter)
|
|
|
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp)
|
rs761060813
|
|
NM_001009944.3(PKD1):c.8363C>T (p.Ser2788Leu)
|
|
|
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs)
|
rs1057518604
|
|
NM_001009944.3(PKD1):c.8370_8376del (p.Arg2791fs)
|
|
|
NM_001009944.3(PKD1):c.8371C>T (p.Arg2791Trp)
|
rs756886497
|
|
NM_001009944.3(PKD1):c.8374del (p.Ser2792fs)
|
rs2544745075
|
|
NM_001009944.3(PKD1):c.8378T>A (p.Leu2793Gln)
|
rs2151755543
|
|
NM_001009944.3(PKD1):c.8378T>C (p.Leu2793Pro)
|
|
|
NM_001009944.3(PKD1):c.8379G>C (p.Leu2793=)
|
|
|
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro)
|
rs1596527065
|
|
NM_001009944.3(PKD1):c.8382_8386del (p.Cys2795fs)
|
|
|
NM_001009944.3(PKD1):c.8388T>G (p.Tyr2796Ter)
|
rs2092200060
|
|
NM_001009944.3(PKD1):c.8398C>T (p.Pro2800Ser)
|
|
|
NM_001009944.3(PKD1):c.8399C>T (p.Pro2800Leu)
|
rs2544744928
|
|
NM_001009944.3(PKD1):c.8401G>T (p.Gly2801Trp)
|
|
|
NM_001009944.3(PKD1):c.8407G>C (p.Gly2803Arg)
|
|
|
NM_001009944.3(PKD1):c.8408G>A (p.Gly2803Asp)
|
|
|
NM_001009944.3(PKD1):c.8408_8409delinsT (p.Gly2803fs)
|
|
|
NM_001009944.3(PKD1):c.8410del (p.Cys2804fs)
|
|
|
NM_001009944.3(PKD1):c.8411G>A (p.Cys2804Tyr)
|
rs1555451184
|
|
NM_001009944.3(PKD1):c.8413C>T (p.His2805Tyr)
|
rs2092198923
|
|
NM_001009944.3(PKD1):c.841del (p.His281fs)
|
rs2544879304
|
|
NM_001009944.3(PKD1):c.8423T>A (p.Ile2808Asn)
|
rs1567177764
|
|
NM_001009944.3(PKD1):c.8423T>C (p.Ile2808Thr)
|
rs1567177764
|
|
NM_001009944.3(PKD1):c.8426C>A (p.Pro2809His)
|
|
|
NM_001009944.3(PKD1):c.8426C>T (p.Pro2809Leu)
|
rs2544744667
|
|
NM_001009944.3(PKD1):c.8427_8446dup (p.Leu2816fs)
|
rs2544744482
|
|
NM_001009944.3(PKD1):c.8427del (p.Glu2810fs)
|
rs1567177760
|
|
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter)
|
rs777608163
|
|
NM_001009944.3(PKD1):c.8429_8433del (p.Glu2810fs)
|
|
|
NM_001009944.3(PKD1):c.843C>T (p.His281=)
|
rs760237424
|
|
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=)
|
rs886038371
|
|
NM_001009944.3(PKD1):c.8443del (p.Ala2815fs)
|
|
|
NM_001009944.3(PKD1):c.8447T>A (p.Leu2816Gln)
|
|
|
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)
|
rs1567177684
|
|
NM_001009944.3(PKD1):c.844_850del (p.Gly282fs)
|
|
|
NM_001009944.3(PKD1):c.8454C>A (p.Asn2818Lys)
|
|
|
NM_001009944.3(PKD1):c.8457_8458del (p.Leu2819_Ser2820insTer)
|
|
|
NM_001009944.3(PKD1):c.8458A>G (p.Ser2820Gly)
|
|
|
NM_001009944.3(PKD1):c.8458_8459del (p.Leu2819_Ser2820insTer)
|
rs2092196755
|
|
NM_001009944.3(PKD1):c.8459G>T (p.Ser2820Ile)
|
rs750662535
|
|
NM_001009944.3(PKD1):c.845G>A (p.Gly282Glu)
|
|
|
NM_001009944.3(PKD1):c.8461dup (p.Asp2821fs)
|
|
|
NM_001009944.3(PKD1):c.846_852del (p.Ser286_Gly287insTer)
|
|
|
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter)
|
rs2092196354
|
|
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)
|
rs1567177613
|
|
NM_001009944.3(PKD1):c.8474T>C (p.Leu2825Pro)
|
|
|
NM_001009944.3(PKD1):c.8480_8481insCT (p.Leu2828fs)
|
rs2544744207
|
|
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro)
|
rs1555451143
|
|
NM_001009944.3(PKD1):c.8487G>A (p.Val2829=)
|
|
|
NM_001009944.3(PKD1):c.8491dup (p.Ser2831fs)
|
|
|
NM_001009944.3(PKD1):c.8493dup (p.Asn2832fs)
|
rs2544744105
|
|
NM_001009944.3(PKD1):c.8498C>T (p.Pro2833Leu)
|
|
|
NM_001009944.3(PKD1):c.8499delinsAAAG (p.Pro2833_Phe2834insLys)
|
rs1596526681
|
|
NM_001009944.3(PKD1):c.8501T>C (p.Phe2834Ser)
|
|
|
NM_001009944.3(PKD1):c.8502del (p.Phe2836fs)
|
|
|
NM_001009944.3(PKD1):c.8503C>T (p.Pro2835Ser)
|
|
|
NM_001009944.3(PKD1):c.8506T>A (p.Phe2836Ile)
|
rs780161620
|
|
NM_001009944.3(PKD1):c.8514dup (p.Ile2839fs)
|
rs2544743893
|
|
NM_001009944.3(PKD1):c.8523C>G (p.Asn2841Lys)
|
|
|
NM_001009944.3(PKD1):c.8524dup (p.Tyr2842fs)
|
|
|
NM_001009944.3(PKD1):c.8526C>T (p.Tyr2842=)
|
|
|
NM_001009944.3(PKD1):c.8530G>C (p.Val2844Leu)
|
rs142888788
|
|
NM_001009944.3(PKD1):c.8530_8538del (p.Val2844_Thr2846del)
|
rs2544743677
|
|
NM_001009944.3(PKD1):c.8531T>C (p.Val2844Ala)
|
rs2092191959
|
|
NM_001009944.3(PKD1):c.8534CCA[3] (p.Thr2846_Lys2847insThr)
|
|
|
NM_001009944.3(PKD1):c.8536A>G (p.Thr2846Ala)
|
|
|
NM_001009944.3(PKD1):c.8538C>T (p.Thr2846=)
|
rs774274728
|
|
NM_001009944.3(PKD1):c.8541G>A (p.Lys2847=)
|
|
|
NM_001009944.3(PKD1):c.8543T>C (p.Val2848Ala)
|
rs2092191294
|
|
NM_001009944.3(PKD1):c.8544G>A (p.Val2848=)
|
|
|
NM_001009944.3(PKD1):c.8545G>C (p.Ala2849Pro)
|
|
|
NM_001009944.3(PKD1):c.8545G>T (p.Ala2849Ser)
|
|
|
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs)
|
rs1555451093
|
|
NM_001009944.3(PKD1):c.8549C>T (p.Ser2850Leu)
|
|
|
NM_001009944.3(PKD1):c.8553G>A (p.Met2851Ile)
|
|
|
NM_001009944.3(PKD1):c.8554G>C (p.Ala2852Pro)
|
|
|
NM_001009944.3(PKD1):c.8554del (p.Ala2852fs)
|
rs2544743555
|
|
NM_001009944.3(PKD1):c.8555_8556del (p.Ala2852fs)
|
|
|
NM_001009944.3(PKD1):c.8558T>C (p.Phe2853Ser)
|
|
|
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter)
|
rs1364976535
|
|
NM_001009944.3(PKD1):c.8566C>G (p.Gln2856Glu)
|
|
|
NM_001009944.3(PKD1):c.8566C>T (p.Gln2856Ter)
|
rs2092189640
|
|
NM_001009944.3(PKD1):c.8569G>A (p.Ala2857Thr)
|
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.856_862dup (p.Gln288fs)
|
|
|
NM_001009944.3(PKD1):c.8574_8580del (p.Ala2859fs)
|
|
|
NM_001009944.3(PKD1):c.8575G>A (p.Ala2859Thr)
|
|
|
NM_001009944.3(PKD1):c.8583C>G (p.Ile2861Met)
|
rs762604142
|
|
NM_001009944.3(PKD1):c.8584C>T (p.Pro2862Ser)
|
|
|
NM_001009944.3(PKD1):c.858T>A (p.Ser286=)
|
|
|
NM_001009944.3(PKD1):c.858_932del (p.Gly287_Ser311del)
|
|
|
NM_001009944.3(PKD1):c.8590G>T (p.Glu2864Ter)
|
rs374629549
|
|
NM_001009944.3(PKD1):c.8594G>A (p.Arg2865Gln)
|
|
|
NM_001009944.3(PKD1):c.8603C>G (p.Ser2868Ter)
|
rs901163374
|
|
NM_001009944.3(PKD1):c.8606_8607del (p.Glu2869fs)
|
rs2544742995
|
|
NM_001009944.3(PKD1):c.8608C>T (p.Arg2870Cys)
|
|
|
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro)
|
rs556305338
|
|
NM_001009944.3(PKD1):c.8614del (p.Ile2872fs)
|
|
|
NM_001009944.3(PKD1):c.8615T>A (p.Ile2872Asn)
|
rs1596526236
|
|
NM_001009944.3(PKD1):c.8624dup (p.Val2876fs)
|
rs2544742790
|
|
NM_001009944.3(PKD1):c.8629C>T (p.Pro2877Ser)
|
|
|
NM_001009944.3(PKD1):c.862C>T (p.Gln288Ter)
|
rs2544879145
|
|
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs)
|
rs2151754452
|
|
NM_001009944.3(PKD1):c.8634C>G (p.Asn2878Lys)
|
|
|
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
|
rs2544742591
|
|
NM_001009944.3(PKD1):c.8646G>A (p.Trp2882Ter)
|
|
|
NM_001009944.3(PKD1):c.8653C>T (p.Arg2885Trp)
|
|
|
NM_001009944.3(PKD1):c.8657_8661del (p.Gly2886fs)
|
|
|
NM_001009944.3(PKD1):c.8661C>G (p.His2887Gln)
|
|
|
NM_001009944.3(PKD1):c.8662C>T (p.Arg2888Cys)
|
|
|
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)
|
rs771434359
|
|
NM_001009944.3(PKD1):c.8669C>A (p.Ser2890Tyr)
|
|
|
NM_001009944.3(PKD1):c.8669_8670insTGCCAACTC (p.Ser2896_Val2897insAlaAsnSer)
|
|
|
NM_001009944.3(PKD1):c.8672C>G (p.Ala2891Gly)
|
|
|
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.8680G>A (p.Ala2894Thr)
|
rs568897373
|
|
NM_001009944.3(PKD1):c.8683_8691dup (p.Val2897_Val2898insAsnSerVal)
|
|
|
NM_001009944.3(PKD1):c.8684A>C (p.Asn2895Thr)
|
rs1219270797
|
|
NM_001009944.3(PKD1):c.8684A>G (p.Asn2895Ser)
|
rs1219270797
|
|
NM_001009944.3(PKD1):c.8684A>T (p.Asn2895Ile)
|
|
|
NM_001009944.3(PKD1):c.8691del (p.Val2898fs)
|
rs2544742014
|
|
NM_001009944.3(PKD1):c.8694G>A (p.Val2898=)
|
rs141252776
|
|
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)
|
rs1567176750
|
|
NM_001009944.3(PKD1):c.8699A>T (p.Gln2900Leu)
|
|
|
NM_001009944.3(PKD1):c.8702C>T (p.Pro2901Leu)
|
rs2092181383
|
|
NM_001009944.3(PKD1):c.8703_8704del (p.Gln2902fs)
|
|
|
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)
|
rs1555450968
|
|
NM_001009944.3(PKD1):c.8705A>C (p.Gln2902Pro)
|
|
|
NM_001009944.3(PKD1):c.8705A>G (p.Gln2902Arg)
|
rs1400163523
|
|
NM_001009944.3(PKD1):c.8707G>A (p.Ala2903Thr)
|
|
|
NM_001009944.3(PKD1):c.8707G>T (p.Ala2903Ser)
|
|
|
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs)
|
rs2151754069
|
|
NM_001009944.3(PKD1):c.8725G>A (p.Val2909Ile)
|
|
|
NM_001009944.3(PKD1):c.8734dup (p.Asp2912fs)
|
|
|
NM_001009944.3(PKD1):c.8747del (p.Pro2916fs)
|
|
|
NM_001009944.3(PKD1):c.8749del (p.Ala2917fs)
|
rs2092179583
|
|
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)
|
rs1596525695
|
|
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu)
|
rs1555450923
|
|
NM_001009944.3(PKD1):c.8756G>T (p.Gly2919Val)
|
|
|
NM_001009944.3(PKD1):c.8757del (p.Leu2920fs)
|
rs2544741352
|
|
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)
|
rs954124689
|
|
NM_001009944.3(PKD1):c.8776T>C (p.Tyr2926His)
|
|
|
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys)
|
rs1229120097
|
|
NM_001009944.3(PKD1):c.8791+13G>A
|
rs150064577
|
|
NM_001009944.3(PKD1):c.8791+1G>A
|
rs2092177236
|
|
NM_001009944.3(PKD1):c.8791+2T>C
|
|
|
NM_001009944.3(PKD1):c.8791+40_10050+3del
|
|
|
NM_001009944.3(PKD1):c.8791+5G>C
|
rs751652400
|
|
NM_001009944.3(PKD1):c.8792-2A>C
|
|
|
NM_001009944.3(PKD1):c.8792-2A>G
|
|
|
NM_001009944.3(PKD1):c.8793_10499+1del
|
|
|
NM_001009944.3(PKD1):c.8795A>T (p.His2932Leu)
|
rs201524173
|
|
NM_001009944.3(PKD1):c.8798A>C (p.Tyr2933Ser)
|
rs1419162559
|
|
NM_001009944.3(PKD1):c.8802G>A (p.Leu2934=)
|
|
|
NM_001009944.3(PKD1):c.8803_8806del (p.Ser2935fs)
|
|
|
NM_001009944.3(PKD1):c.8804_8805del (p.Leu2934_Ser2935insTer)
|
rs2544737997
|
|
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys)
|
rs2151752267
|
|
NM_001009944.3(PKD1):c.8819C>G (p.Pro2940Arg)
|
|
|
NM_001009944.3(PKD1):c.8821T>A (p.Tyr2941Asn)
|
rs2544737896
|
|
NM_001009944.3(PKD1):c.8823C>G (p.Tyr2941Ter)
|
rs780322906
|
|
NM_001009944.3(PKD1):c.8827G>T (p.Ala2943Ser)
|
rs1440626571
|
|
NM_001009944.3(PKD1):c.8828C>T (p.Ala2943Val)
|
rs1567175859
|
|
NM_001009944.3(PKD1):c.8830G>T (p.Val2944Phe)
|
rs1555450761
|
|
NM_001009944.3(PKD1):c.8834A>G (p.Tyr2945Cys)
|
|
|
NM_001009944.3(PKD1):c.8836del (p.Leu2946fs)
|
rs2092156841
|
|
NM_001009944.3(PKD1):c.8837T>C (p.Leu2946Pro)
|
|
|
NM_001009944.3(PKD1):c.8839del (p.His2947fs)
|
rs2544737764
|
|
NM_001009944.3(PKD1):c.8840A>C (p.His2947Pro)
|
|
|
NM_001009944.3(PKD1):c.8842_8843del (p.Ser2948fs)
|
|
|
NM_001009944.3(PKD1):c.884C>A (p.Ala295Asp)
|
rs745988311
|
|
NM_001009944.3(PKD1):c.8860G>T (p.Glu2954Ter)
|
|
|
NM_001009944.3(PKD1):c.8864A>G (p.His2955Arg)
|
|
|
NM_001009944.3(PKD1):c.8865C>T (p.His2955=)
|
|
|
NM_001009944.3(PKD1):c.8867A>G (p.Asn2956Ser)
|
|
|
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)
|
rs750780241
|
|
NM_001009944.3(PKD1):c.8873C>T (p.Ser2958Leu)
|
|
|
NM_001009944.3(PKD1):c.8879_8880delinsTT (p.Ser2960Ile)
|
|
|
NM_001009944.3(PKD1):c.887C>T (p.Ala296Val)
|
|
|
NM_001009944.3(PKD1):c.8891G>T (p.Arg2964Leu)
|
|
|
NM_001009944.3(PKD1):c.8894C>T (p.Pro2965Leu)
|
|
|
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.8898_8911dup (p.Ala2971fs)
|
rs1555450672
|
|
NM_001009944.3(PKD1):c.8900C>G (p.Ser2967Ter)
|
rs2544737112
|
|
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter)
|
rs200520583
|
|
NM_001009944.3(PKD1):c.8908G>A (p.Gly2970Ser)
|
rs1372716499
|
|
NM_001009944.3(PKD1):c.8909G>C (p.Gly2970Ala)
|
|
|
NM_001009944.3(PKD1):c.8909del (p.Gly2970fs)
|
rs2544737008
|
|
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg)
|
rs757527492
|
|
NM_001009944.3(PKD1):c.890dup (p.Leu298fs)
|
|
|
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr)
|
rs1555450667
|
|
NM_001009944.3(PKD1):c.8920C>G (p.Arg2974Gly)
|
|
|
NM_001009944.3(PKD1):c.8925dup (p.Tyr2976fs)
|
rs2544736793
|
|
NM_001009944.3(PKD1):c.8929A>G (p.Thr2977Ala)
|
rs760382745
|
|
NM_001009944.3(PKD1):c.8930C>T (p.Thr2977Ile)
|
|
|
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser)
|
rs1596523677
|
|
NM_001009944.3(PKD1):c.8936T>C (p.Phe2979Ser)
|
|
|
NM_001009944.3(PKD1):c.8945del (p.Pro2982fs)
|
rs2092151870
|
|
NM_001009944.3(PKD1):c.8945dup (p.Ser2984fs)
|
|
|
NM_001009944.3(PKD1):c.8947G>T (p.Gly2983Trp)
|
|
|
NM_001009944.3(PKD1):c.8948+12G>A
|
rs369347070
|
|
NM_001009944.3(PKD1):c.8948+15C>T
|
rs778271516
|
|
NM_001009944.3(PKD1):c.8948+1del
|
|
|
NM_001009944.3(PKD1):c.8949-17_8949-7del
|
rs2151750587
|
|
NM_001009944.3(PKD1):c.8949-2A>C
|
|
|
NM_001009944.3(PKD1):c.8949G>A (p.Gly2983=)
|
|
|
NM_001009944.3(PKD1):c.8953A>G (p.Arg2985Gly)
|
|
|
NM_001009944.3(PKD1):c.8955_8962del (p.Arg2985fs)
|
rs2092142482
|
|
NM_001009944.3(PKD1):c.8956G>C (p.Asp2986His)
|
|
|
NM_001009944.3(PKD1):c.8957del (p.Asp2986fs)
|
|
|
NM_001009944.3(PKD1):c.8960_8969del (p.Pro2987fs)
|
|
|
NM_001009944.3(PKD1):c.8963C>A (p.Ala2988Glu)
|
|
|
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)
|
rs1555459084
|
|
NM_001009944.3(PKD1):c.8971T>G (p.Tyr2991Asp)
|
|
|
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)
|
rs1567174997
|
|
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)
|
rs1596522636
|
|
NM_001009944.3(PKD1):c.8973_8975del (p.His2992del)
|
|
|
NM_001009944.3(PKD1):c.8978T>A (p.Leu2993Gln)
|
rs1555450487
|
|
NM_001009944.3(PKD1):c.8978T>C (p.Leu2993Pro)
|
rs1555450487
|
|
NM_001009944.3(PKD1):c.8978T>G (p.Leu2993Arg)
|
rs1555450487
|
|
NM_001009944.3(PKD1):c.8982C>T (p.Asn2994=)
|
|
|
NM_001009944.3(PKD1):c.8983C>G (p.Leu2995Val)
|
rs767714125
|
|
NM_001009944.3(PKD1):c.898G>A (p.Val300Ile)
|
|
|
NM_001009944.3(PKD1):c.8990G>T (p.Ser2997Ile)
|
|
|
NM_001009944.3(PKD1):c.8991C>T (p.Ser2997=)
|
|
|
NM_001009944.3(PKD1):c.8993A>C (p.His2998Pro)
|
rs2092140615
|
|
NM_001009944.3(PKD1):c.8997C>G (p.Phe2999Leu)
|
|
|
NM_001009944.3(PKD1):c.8998C>G (p.Arg3000Gly)
|
|
|
NM_001009944.3(PKD1):c.8998del (p.Arg3000fs)
|
rs1555450475
|
|
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)
|
rs2544878899
|
|
NM_001009944.3(PKD1):c.89G>A (p.Cys30Tyr)
|
rs2092941343
|
|
NM_001009944.3(PKD1):c.8C>G (p.Pro3Arg)
|
|
|
NM_001009944.3(PKD1):c.9001T>C (p.Trp3001Arg)
|
|
|
NM_001009944.3(PKD1):c.9003G>A (p.Trp3001Ter)
|
|
|
NM_001009944.3(PKD1):c.9005C>A (p.Ser3002Ter)
|
rs1486764809
|
|
NM_001009944.3(PKD1):c.9005C>T (p.Ser3002Leu)
|
|
|
NM_001009944.3(PKD1):c.9011T>C (p.Leu3004Pro)
|
rs2151750242
|
|
NM_001009944.3(PKD1):c.9013C>T (p.Gln3005Ter)
|
rs1063401
|
|
NM_001009944.3(PKD1):c.9016G>C (p.Val3006Leu)
|
|
|
NM_001009944.3(PKD1):c.9019T>A (p.Ser3007Thr)
|
|
|
NM_001009944.3(PKD1):c.9020C>T (p.Ser3007Phe)
|
|
|
NM_001009944.3(PKD1):c.9028C>T (p.Leu3010=)
|
|
|
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln)
|
rs750501225
|
|
NM_001009944.3(PKD1):c.902C>T (p.Thr301Ile)
|
|
|
NM_001009944.3(PKD1):c.9031T>A (p.Tyr3011Asn)
|
|
|
NM_001009944.3(PKD1):c.9033C>G (p.Tyr3011Ter)
|
rs1408935894
|
|
NM_001009944.3(PKD1):c.9038C>T (p.Ser3013Phe)
|
rs2544733576
|
|
NM_001009944.3(PKD1):c.9040dup (p.Leu3014fs)
|
rs2544733556
|
|
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro)
|
rs2151750096
|
|
NM_001009944.3(PKD1):c.9045C>G (p.Cys3015Trp)
|
rs1596522411
|
|
NM_001009944.3(PKD1):c.9046C>T (p.Gln3016Ter)
|
rs2544733512
|
|
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg)
|
rs2151750082
|
|
NM_001009944.3(PKD1):c.9047del (p.Gln3016fs)
|
rs2092138707
|
|
NM_001009944.3(PKD1):c.9048del (p.Gln3016fs)
|
|
|
NM_001009944.3(PKD1):c.9049T>G (p.Tyr3017Asp)
|
rs2544733483
|
|
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
|
rs2544733475
|
|
NM_001009944.3(PKD1):c.9064G>A (p.Asp3022Asn)
|
rs537053308
|
|
NM_001009944.3(PKD1):c.9065_9070del (p.Asp3022_Met3023del)
|
rs1555450426
|
|
NM_001009944.3(PKD1):c.9066C>T (p.Asp3022=)
|
|
|
NM_001009944.3(PKD1):c.9067_9123del (p.Met3023_Ala3041del)
|
rs1567174543
|
|
NM_001009944.3(PKD1):c.9072G>A (p.Val3024=)
|
|
|
NM_001009944.3(PKD1):c.9072_9397+1del
|
|
|
NM_001009944.3(PKD1):c.9074G>C (p.Trp3025Ser)
|
|
|
NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer)
|
rs1555450424
|
|
NM_001009944.3(PKD1):c.9075G>A (p.Trp3025Ter)
|
|
|
NM_001009944.3(PKD1):c.9075G>C (p.Trp3025Cys)
|
|
|
NM_001009944.3(PKD1):c.9076C>T (p.Arg3026Trp)
|
rs1354953295
|
|
NM_001009944.3(PKD1):c.9077G>C (p.Arg3026Pro)
|
rs576970336
|
|
NM_001009944.3(PKD1):c.9078G>A (p.Arg3026=)
|
|
|
NM_001009944.3(PKD1):c.9078_9116del (p.Thr3027_Arg3039del)
|
|
|
NM_001009944.3(PKD1):c.9081A>T (p.Thr3027=)
|
rs749046847
|
|
NM_001009944.3(PKD1):c.9083_9084del (p.Glu3028fs)
|
rs2544733268
|
|
NM_001009944.3(PKD1):c.9089T>G (p.Leu3030Arg)
|
rs2544733206
|
|
NM_001009944.3(PKD1):c.9097del (p.Leu3033fs)
|
|
|
NM_001009944.3(PKD1):c.9098del (p.Leu3033fs)
|
|
|
NM_001009944.3(PKD1):c.90C>A (p.Cys30Ter)
|
|
|
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)
|
rs2544733084
|
|
NM_001009944.3(PKD1):c.9105G>T (p.Glu3035Asp)
|
|
|
NM_001009944.3(PKD1):c.910C>G (p.Arg304Gly)
|
rs543328728
|
|
NM_001009944.3(PKD1):c.9111_9132del (p.Arg3039fs)
|
|
|
NM_001009944.3(PKD1):c.9112C>A (p.Pro3038Thr)
|
|
|
NM_001009944.3(PKD1):c.9112C>T (p.Pro3038Ser)
|
|
|
NM_001009944.3(PKD1):c.9113C>G (p.Pro3038Arg)
|
|
|
NM_001009944.3(PKD1):c.9115C>A (p.Arg3039Ser)
|
rs200522524
|
|
NM_001009944.3(PKD1):c.9115C>T (p.Arg3039Cys)
|
rs200522524
|
|
NM_001009944.3(PKD1):c.9118C>T (p.Gln3040Ter)
|
|
|
NM_001009944.3(PKD1):c.9119A>C (p.Gln3040Pro)
|
rs2092136027
|
|
NM_001009944.3(PKD1):c.911G>A (p.Arg304His)
|
rs574313228
|
|
NM_001009944.3(PKD1):c.911G>T (p.Arg304Leu)
|
rs574313228
|
|
NM_001009944.3(PKD1):c.9122C>A (p.Ala3041Asp)
|
|
|
NM_001009944.3(PKD1):c.913T>C (p.Trp305Arg)
|
rs2151823617
|
|
NM_001009944.3(PKD1):c.913T>G (p.Trp305Gly)
|
|
|
NM_001009944.3(PKD1):c.9143T>G (p.Leu3048Arg)
|
rs1596522098
|
|
NM_001009944.3(PKD1):c.9145A>T (p.Thr3049Ser)
|
|
|
NM_001009944.3(PKD1):c.9146C>T (p.Thr3049Ile)
|
rs2151749645
|
|
NM_001009944.3(PKD1):c.9148G>A (p.Ala3050Thr)
|
|
|
NM_001009944.3(PKD1):c.914G>A (p.Trp305Ter)
|
|
|
NM_001009944.3(PKD1):c.9154G>A (p.Gly3052Ser)
|
|
|
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
|
|
|
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.9164T>C (p.Leu3055Pro)
|
|
|
NM_001009944.3(PKD1):c.9170T>G (p.Val3057Gly)
|
rs758627119
|
|
NM_001009944.3(PKD1):c.9178dup (p.Ser3060fs)
|
|
|
NM_001009944.3(PKD1):c.9182A>G (p.His3061Arg)
|
|
|
NM_001009944.3(PKD1):c.9184G>C (p.Val3062Leu)
|
|
|
NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp)
|
rs1057518856
|
|
NM_001009944.3(PKD1):c.9185T>G (p.Val3062Gly)
|
rs1057518856
|
|
NM_001009944.3(PKD1):c.9185_9188dup (p.Phe3064fs)
|
rs2544732354
|
|
NM_001009944.3(PKD1):c.9186C>A (p.Val3062=)
|
|
|
NM_001009944.3(PKD1):c.9188G>A (p.Arg3063His)
|
|
|
NM_001009944.3(PKD1):c.9188G>C (p.Arg3063Pro)
|
|
|
NM_001009944.3(PKD1):c.9193G>A (p.Val3065Met)
|
rs1004725342
|
|
NM_001009944.3(PKD1):c.9195_9196del (p.Phe3066fs)
|
rs2544732273
|
|
NM_001009944.3(PKD1):c.9195_9196delinsCC (p.Phe3066Leu)
|
rs372874584
|
|
NM_001009944.3(PKD1):c.9195_9199delinsCCTT (p.Phe3066fs)
|
|
|
NM_001009944.3(PKD1):c.9200C>G (p.Pro3067Arg)
|
|
|
NM_001009944.3(PKD1):c.9200C>T (p.Pro3067Leu)
|
rs537034114
|
|
NM_001009944.3(PKD1):c.9201+1G>A
|
rs2151749304
|
|
NM_001009944.3(PKD1):c.9201+3G>C
|
|
|
NM_001009944.3(PKD1):c.9201+4A>G
|
|
|
NM_001009944.3(PKD1):c.9201+5G>A
|
rs1596521826
|
|
NM_001009944.3(PKD1):c.9201+5G>C
|
|
|
NM_001009944.3(PKD1):c.9201T>G (p.Pro3067=)
|
|
|
NM_001009944.3(PKD1):c.9202-10_9218del
|
rs1596521250
|
|
NM_001009944.3(PKD1):c.9202-13T>A
|
|
|
NM_001009944.3(PKD1):c.9202-1G>A
|
rs2151748829
|
|
NM_001009944.3(PKD1):c.9202-1G>T
|
|
|
NM_001009944.3(PKD1):c.9202-3C>A
|
|
|
NM_001009944.3(PKD1):c.9202-3C>G
|
|
|
NM_001009944.3(PKD1):c.9213G>A (p.Ala3071=)
|
|
|
NM_001009944.3(PKD1):c.9217dup (p.Val3073fs)
|
rs2544731000
|
|
NM_001009944.3(PKD1):c.921del (p.Phe307fs)
|
|
|
NM_001009944.3(PKD1):c.9225C>A (p.Tyr3075Ter)
|
|
|
NM_001009944.3(PKD1):c.9231dup (p.Met3078fs)
|
rs1567173968
|
|
NM_001009944.3(PKD1):c.9233T>A (p.Met3078Lys)
|
rs879544330
|
|
NM_001009944.3(PKD1):c.9238A>C (p.Thr3080Pro)
|
rs2544730866
|
|
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.9241T>C (p.Cys3081Arg)
|
|
|
NM_001009944.3(PKD1):c.924_948delinsTGGAT (p.Asp309fs)
|
rs1555459056
|
|
NM_001009944.3(PKD1):c.9250T>C (p.Cys3084Arg)
|
|
|
NM_001009944.3(PKD1):c.9251G>A (p.Cys3084Tyr)
|
rs2092123424
|
|
NM_001009944.3(PKD1):c.9261C>G (p.Thr3087=)
|
|
|
NM_001009944.3(PKD1):c.9262_9263insGT (p.Tyr3088fs)
|
|
|
NM_001009944.3(PKD1):c.9262dup (p.Tyr3088fs)
|
|
|
NM_001009944.3(PKD1):c.9264del (p.Thr3087_Tyr3088insTer)
|
|
|
NM_001009944.3(PKD1):c.9265A>G (p.Met3089Val)
|
|
|
NM_001009944.3(PKD1):c.9278C>A (p.Ala3093Asp)
|
|
|
NM_001009944.3(PKD1):c.927C>T (p.Asp309=)
|
|
|
NM_001009944.3(PKD1):c.928G>A (p.Gly310Ser)
|
|
|
NM_001009944.3(PKD1):c.9295G>C (p.Asp3099His)
|
|
|
NM_001009944.3(PKD1):c.9296A>T (p.Asp3099Val)
|
rs1567173808
|
|
NM_001009944.3(PKD1):c.9296del (p.Asp3099fs)
|
rs2544730531
|
|
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)
|
rs1596520985
|
|
NM_001009944.3(PKD1):c.9302T>A (p.Leu3101Ter)
|
rs2544730498
|
|
NM_001009944.3(PKD1):c.9314G>A (p.Arg3105Gln)
|
|
|
NM_001009944.3(PKD1):c.9320_9324dup (p.Ile3109fs)
|
rs2544730274
|
|
NM_001009944.3(PKD1):c.9325_9330delinsGCGCCATCCCC (p.Ile3109fs)
|
|
|
NM_001009944.3(PKD1):c.9329C>G (p.Pro3110Arg)
|
|
|
NM_001009944.3(PKD1):c.932C>T (p.Ser311Phe)
|
|
|
NM_001009944.3(PKD1):c.932_960del (p.Ser311fs)
|
|
|
NM_001009944.3(PKD1):c.9331T>A (p.Phe3111Ile)
|
rs767845814
|
|
NM_001009944.3(PKD1):c.9331_9334delinsAG (p.Phe3111fs)
|
|
|
NM_001009944.3(PKD1):c.9335G>A (p.Cys3112Tyr)
|
|
|
NM_001009944.3(PKD1):c.9338G>A (p.Gly3113Glu)
|
|
|
NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter)
|
rs2544730146
|
|
NM_001009944.3(PKD1):c.9344G>A (p.Arg3115Gln)
|
|
|
NM_001009944.3(PKD1):c.9347_9350dup (p.Phe3118fs)
|
rs2151748289
|
|
NM_001009944.3(PKD1):c.9347del (p.Gly3116fs)
|
rs2544730117
|
|
NM_001009944.3(PKD1):c.934G>C (p.Ala312Pro)
|
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|
NM_001009944.3(PKD1):c.9350G>A (p.Arg3117His)
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|
NM_001009944.3(PKD1):c.9355A>T (p.Lys3119Ter)
|
rs1315416272
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NM_001009944.3(PKD1):c.9356A>G (p.Lys3119Arg)
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NM_001009944.3(PKD1):c.9359A>G (p.Tyr3120Cys)
|
rs2544730073
|
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NM_001009944.3(PKD1):c.9361G>A (p.Glu3121Lys)
|
rs1281821418
|
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NM_001009944.3(PKD1):c.9365T>G (p.Ile3122Ser)
|
rs2092119998
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NM_001009944.3(PKD1):c.9368T>A (p.Leu3123His)
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NM_001009944.3(PKD1):c.9373A>G (p.Lys3125Glu)
|
rs2544729964
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NM_001009944.3(PKD1):c.9373A>T (p.Lys3125Ter)
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NM_001009944.3(PKD1):c.9376A>G (p.Thr3126Ala)
|
rs2544729948
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NM_001009944.3(PKD1):c.9376A>T (p.Thr3126Ser)
|
rs2544729948
|
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NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile)
|
rs1567173560
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NM_001009944.3(PKD1):c.9378_9383dup (p.Trp3128Ter)
|
rs2544729906
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NM_001009944.3(PKD1):c.937G>A (p.Glu313Lys)
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NM_001009944.3(PKD1):c.9382T>A (p.Trp3128Arg)
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rs2544729917
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NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)
|
rs2544729897
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NM_001009944.3(PKD1):c.9383_9394del (p.Trp3128_Gly3131del)
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NM_001009944.3(PKD1):c.9386del (p.Gly3129fs)
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rs2544729882
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NM_001009944.3(PKD1):c.9388C>T (p.Arg3130Trp)
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NM_001009944.3(PKD1):c.9388_9393del (p.Arg3130_Gly3131del)
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NM_001009944.3(PKD1):c.9395C>G (p.Ser3132Ter)
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NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu)
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rs2092119222
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NM_001009944.3(PKD1):c.9396A>G (p.Ser3132=)
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NM_001009944.3(PKD1):c.9397+14C>T
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NM_001009944.3(PKD1):c.9397+1G>C
|
rs2544729773
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NM_001009944.3(PKD1):c.9397+3G>C
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rs1555450109
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NM_001009944.3(PKD1):c.9397G>C (p.Gly3133Arg)
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NM_001009944.3(PKD1):c.9397G>T (p.Gly3133Cys)
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rs2544729779
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NM_001009944.3(PKD1):c.9398-1G>A
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rs1555449642
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NM_001009944.3(PKD1):c.9398-1G>C
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rs1555449642
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NM_001009944.3(PKD1):c.9398-2A>G
|
rs2151742515
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NM_001009944.3(PKD1):c.9398G>A (p.Gly3133Asp)
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NM_001009944.3(PKD1):c.9400A>G (p.Thr3134Ala)
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NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile)
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rs2092053154
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NM_001009944.3(PKD1):c.9403A>G (p.Thr3135Ala)
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NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
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NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
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NM_001009944.3(PKD1):c.9407_9426del (p.Ala3136fs)
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NM_001009944.3(PKD1):c.9409C>G (p.His3137Asp)
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NM_001009944.3(PKD1):c.9409C>T (p.His3137Tyr)
|
rs2544718785
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NM_001009944.3(PKD1):c.9411C>G (p.His3137Gln)
|
rs750132441
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NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu)
|
rs1358566538
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NM_001009944.3(PKD1):c.9412dup (p.Val3138fs)
|
rs1567171493
|
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NM_001009944.3(PKD1):c.9413T>A (p.Val3138Glu)
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NM_001009944.3(PKD1):c.9415G>A (p.Gly3139Ser)
|
rs1165123201
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NM_001009944.3(PKD1):c.9417del (p.Ile3140fs)
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rs2544718731
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NM_001009944.3(PKD1):c.9418A>G (p.Ile3140Val)
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NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro)
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rs2092051851
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NM_001009944.3(PKD1):c.9428_9430dup (p.Tyr3143_Gly3144insAsp)
|
rs2151742372
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NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg)
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rs1596515144
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NM_001009944.3(PKD1):c.9430G>C (p.Gly3144Arg)
|
rs1596515144
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NM_001009944.3(PKD1):c.9431G>A (p.Gly3144Glu)
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NM_001009944.3(PKD1):c.9431G>C (p.Gly3144Ala)
|
rs1596515137
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NM_001009944.3(PKD1):c.9442C>G (p.Arg3148Gly)
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NM_001009944.3(PKD1):c.9442C>T (p.Arg3148Trp)
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NM_001009944.3(PKD1):c.9445A>C (p.Ser3149Arg)
|
rs2544718506
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NM_001009944.3(PKD1):c.9448G>A (p.Gly3150Ser)
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NM_001009944.3(PKD1):c.9451del (p.His3151fs)
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NM_001009944.3(PKD1):c.9452A>C (p.His3151Pro)
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NM_001009944.3(PKD1):c.9454C>G (p.Arg3152Gly)
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rs776866974
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NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs)
|
rs1596514864
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NM_001009944.3(PKD1):c.9458_9484inv (p.His3153_Arg3162delinsArgTrpLysAlaLeuSerProSerArgCys)
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NM_001009944.3(PKD1):c.9460C>G (p.Leu3154Val)
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NM_001009944.3(PKD1):c.9461T>C (p.Leu3154Pro)
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NM_001009944.3(PKD1):c.9462_9478del (p.Asp3155fs)
|
rs2544718286
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NM_001009944.3(PKD1):c.946G>A (p.Ala316Thr)
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NM_001009944.3(PKD1):c.9481C>T (p.His3161Tyr)
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|
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NM_001009944.3(PKD1):c.9485G>T (p.Arg3162Leu)
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rs1189208643
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NM_001009944.3(PKD1):c.9486dup (p.Asn3163fs)
|
rs2092049440
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NM_001009944.3(PKD1):c.9487A>G (p.Asn3163Asp)
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|
|
NM_001009944.3(PKD1):c.9494T>C (p.Leu3165Pro)
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rs1555449597
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NM_001009944.3(PKD1):c.9496dup (p.Asp3166fs)
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|
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NM_001009944.3(PKD1):c.9502T>G (p.Phe3168Val)
|
rs2151742081
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NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del)
|
rs2092048798
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|
NM_001009944.3(PKD1):c.9503T>C (p.Phe3168Ser)
|
|
|
NM_001009944.3(PKD1):c.9504C>G (p.Phe3168Leu)
|
|
|
NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val)
|
rs2092048001
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|
NM_001009944.3(PKD1):c.9513del (p.Thr3172fs)
|
rs2544717941
|
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NM_001009944.3(PKD1):c.9518del (p.Pro3173fs)
|
rs1567171182
|
|
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)
|
rs769045618
|
|
NM_001009944.3(PKD1):c.9522del (p.His3174fs)
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|
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NM_001009944.3(PKD1):c.9526C>T (p.Leu3176=)
|
rs745376136
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NM_001009944.3(PKD1):c.9527T>A (p.Leu3176Gln)
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rs1596514809
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NM_001009944.3(PKD1):c.9530G>A (p.Gly3177Asp)
|
rs2544717733
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NM_001009944.3(PKD1):c.9530dup (p.Gly3177_Ser3178insTer)
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|
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NM_001009944.3(PKD1):c.9533G>T (p.Ser3178Ile)
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|
|
NM_001009944.3(PKD1):c.9535G>A (p.Val3179Met)
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|
|
NM_001009944.3(PKD1):c.9535G>C (p.Val3179Leu)
|
|
|
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)
|
rs2092047055
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|
NM_001009944.3(PKD1):c.9543G>T (p.Lys3181Asn)
|
rs2092047055
|
|
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)
|
rs1485297878
|
|
NM_001009944.3(PKD1):c.9548G>C (p.Arg3183Pro)
|
|
|
NM_001009944.3(PKD1):c.954_976del (p.Pro319fs)
|
rs2151823424
|
|
NM_001009944.3(PKD1):c.9555G>A (p.Trp3185Ter)
|
|
|
NM_001009944.3(PKD1):c.9556C>G (p.His3186Asp)
|
|
|
NM_001009944.3(PKD1):c.9558C>G (p.His3186Gln)
|
rs765094547
|
|
NM_001009944.3(PKD1):c.9559G>A (p.Asp3187Asn)
|
|
|
NM_001009944.3(PKD1):c.9559G>T (p.Asp3187Tyr)
|
rs754938191
|
|
NM_001009944.3(PKD1):c.9559_9561del (p.Asp3187del)
|
rs2544717535
|
|
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)
|
rs869312944
|
|
NM_001009944.3(PKD1):c.9562A>T (p.Asn3188Tyr)
|
|
|
NM_001009944.3(PKD1):c.9563A>C (p.Asn3188Thr)
|
|
|
NM_001009944.3(PKD1):c.9563A>T (p.Asn3188Ile)
|
rs1567171059
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|
NM_001009944.3(PKD1):c.9563_9568+2delinsCTCGG
|
|
|
NM_001009944.3(PKD1):c.9568+1G>C
|
rs2092046394
|
|
NM_001009944.3(PKD1):c.9568+1G>T
|
rs2092046394
|
|
NM_001009944.3(PKD1):c.9568+3T>C
|
rs766423188
|
|
NM_001009944.3(PKD1):c.9568+9G>A
|
|
|
NM_001009944.3(PKD1):c.9568G>A (p.Gly3190Arg)
|
rs1060499704
|
|
NM_001009944.3(PKD1):c.9568G>C (p.Gly3190Arg)
|
|
|
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp)
|
rs1060499704
|
|
NM_001009944.3(PKD1):c.9569-12G>C
|
|
|
NM_001009944.3(PKD1):c.9569-12_9569-11delinsTA
|
|
|
NM_001009944.3(PKD1):c.9569-1G>A
|
rs2151741177
|
|
NM_001009944.3(PKD1):c.9569-1G>C
|
rs2151741177
|
|
NM_001009944.3(PKD1):c.9569-1G>T
|
|
|
NM_001009944.3(PKD1):c.956C>T (p.Pro319Leu)
|
|
|
NM_001009944.3(PKD1):c.9575G>T (p.Ser3192Ile)
|
rs2092040135
|
|
NM_001009944.3(PKD1):c.9578C>G (p.Pro3193Arg)
|
|
|
NM_001009944.3(PKD1):c.9578C>T (p.Pro3193Leu)
|
|
|
NM_001009944.3(PKD1):c.9581C>T (p.Ala3194Val)
|
|
|
NM_001009944.3(PKD1):c.9582C>T (p.Ala3194=)
|
rs1399957695
|
|
NM_001009944.3(PKD1):c.9583T>C (p.Trp3195Arg)
|
rs2544716341
|
|
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter)
|
rs2544716328
|
|
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter)
|
rs1596514027
|
|
NM_001009944.3(PKD1):c.9585_9591del (p.Trp3195fs)
|
rs2092039663
|
|
NM_001009944.3(PKD1):c.9588C>G (p.Phe3196Leu)
|
|
|
NM_001009944.3(PKD1):c.9590T>C (p.Leu3197Pro)
|
rs2092039709
|
|
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter)
|
rs1474701377
|
|
NM_001009944.3(PKD1):c.9593A>C (p.Gln3198Pro)
|
|
|
NM_001009944.3(PKD1):c.9595_9618del (p.His3199_Gln3206del)
|
|
|
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)
|
rs2544716082
|
|
NM_001009944.3(PKD1):c.9604G>A (p.Val3202Ile)
|
|
|
NM_001009944.3(PKD1):c.9604G>T (p.Val3202Phe)
|
|
|
NM_001009944.3(PKD1):c.9605T>G (p.Val3202Gly)
|
|
|
NM_001009944.3(PKD1):c.9607_9608del (p.Arg3203fs)
|
|
|
NM_001009944.3(PKD1):c.960del (p.Ala321fs)
|
|
|
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala)
|
rs1596513913
|
|
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly)
|
rs1596513913
|
|
NM_001009944.3(PKD1):c.9611A>T (p.Asp3204Val)
|
rs1596513913
|
|
NM_001009944.3(PKD1):c.9616C>T (p.Gln3206Ter)
|
rs2092038810
|
|
NM_001009944.3(PKD1):c.9622G>A (p.Ala3208Thr)
|
|
|
NM_001009944.3(PKD1):c.9632C>T (p.Ala3211Val)
|
rs758715089
|
|
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala)
|
rs1085307551
|
|
NM_001009944.3(PKD1):c.9636C>T (p.Phe3212=)
|
|
|
NM_001009944.3(PKD1):c.9637T>A (p.Phe3213Ile)
|
rs2151740841
|
|
NM_001009944.3(PKD1):c.9644T>A (p.Val3215Asp)
|
rs2544715688
|
|
NM_001009944.3(PKD1):c.9647A>T (p.Asn3216Ile)
|
|
|
NM_001009944.3(PKD1):c.9647_9648del (p.Asn3216fs)
|
|
|
NM_001009944.3(PKD1):c.964_965dup (p.His323fs)
|
rs1567217428
|
|
NM_001009944.3(PKD1):c.9654G>A (p.Trp3218Ter)
|
|
|
NM_001009944.3(PKD1):c.9656T>G (p.Leu3219Arg)
|
rs2544715606
|
|
NM_001009944.3(PKD1):c.9656_9674del (p.Leu3219fs)
|
rs2092035920
|
|
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs)
|
rs2151823406
|
|
NM_001009944.3(PKD1):c.9660G>A (p.Ser3220=)
|
|
|
NM_001009944.3(PKD1):c.9661del (p.Val3221fs)
|
rs2544715545
|
|
NM_001009944.3(PKD1):c.9668_9694del (p.Thr3223_Glu3231del)
|
rs2544715242
|
|
NM_001009944.3(PKD1):c.966_972del (p.His323fs)
|
|
|
NM_001009944.3(PKD1):c.9670G>T (p.Glu3224Ter)
|
rs2544715496
|
|
NM_001009944.3(PKD1):c.9672G>C (p.Glu3224Asp)
|
|
|
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del)
|
rs1555449461
|
|
NM_001009944.3(PKD1):c.9678C>G (p.Asn3226Lys)
|
|
|
NM_001009944.3(PKD1):c.9678_9679insA (p.Gly3227fs)
|
|
|
NM_001009944.3(PKD1):c.9682G>C (p.Gly3228Arg)
|
|
|
NM_001009944.3(PKD1):c.9682_9683dup (p.Leu3229fs)
|
|
|
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs)
|
rs2151740671
|
|
NM_001009944.3(PKD1):c.9685C>G (p.Leu3229Val)
|
|
|
NM_001009944.3(PKD1):c.9686del (p.Leu3229fs)
|
|
|
NM_001009944.3(PKD1):c.968_972del (p.His323fs)
|
|
|
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.9695A>G (p.Lys3232Arg)
|
rs988225678
|
|
NM_001009944.3(PKD1):c.9697dup (p.Glu3233fs)
|
rs2544715201
|
|
NM_001009944.3(PKD1):c.96C>T (p.Pro32=)
|
rs918688
|
|
NM_001009944.3(PKD1):c.970C>T (p.Arg324Cys)
|
|
|
NM_001009944.3(PKD1):c.9711G>A (p.Ala3237=)
|
|
|
NM_001009944.3(PKD1):c.9712+2T>G
|
|
|
NM_001009944.3(PKD1):c.9712+40G>A
|
rs2092031694
|
|
NM_001009944.3(PKD1):c.9712+8C>T
|
|
|
NM_001009944.3(PKD1):c.9714C>T (p.Ser3238=)
|
|
|
NM_001009944.3(PKD1):c.9715G>A (p.Asp3239Asn)
|
rs774484157
|
|
NM_001009944.3(PKD1):c.9717C>T (p.Asp3239=)
|
|
|
NM_001009944.3(PKD1):c.9726_9727insA (p.Leu3243fs)
|
rs2151739862
|
|
NM_001009944.3(PKD1):c.9729dup (p.Arg3244fs)
|
rs2092027387
|
|
NM_001009944.3(PKD1):c.9731G>A (p.Arg3244His)
|
|
|
NM_001009944.3(PKD1):c.9735C>G (p.Phe3245Leu)
|
|
|
NM_001009944.3(PKD1):c.9736del (p.Arg3246fs)
|
rs2092026801
|
|
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
|
rs1232180956
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NM_001009944.3(PKD1):c.974A>T (p.Tyr325Phe)
|
rs1232180956
|
|
NM_001009944.3(PKD1):c.9754G>A (p.Glu3252Lys)
|
rs2544713808
|
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NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal)
|
rs1057516202
|
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NM_001009944.3(PKD1):c.9756G>C (p.Glu3252Asp)
|
rs1317364403
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NM_001009944.3(PKD1):c.9756_9771dup (p.Phe3258fs)
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NM_001009944.3(PKD1):c.9758T>A (p.Leu3253Gln)
|
rs2092025452
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NM_001009944.3(PKD1):c.9758T>C (p.Leu3253Pro)
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NM_001009944.3(PKD1):c.9760C>T (p.Gln3254Ter)
|
rs2544713742
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NM_001009944.3(PKD1):c.9767G>T (p.Gly3256Val)
|
rs1596512954
|
|
NM_001009944.3(PKD1):c.9771_9774del (p.Phe3257fs)
|
|
|
NM_001009944.3(PKD1):c.9773_9787del (p.Phe3258_Ile3262del)
|
|
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NM_001009944.3(PKD1):c.9777C>G (p.Asp3259Glu)
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NM_001009944.3(PKD1):c.9782A>C (p.His3261Pro)
|
|
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NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser)
|
rs1555449378
|
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NM_001009944.3(PKD1):c.9788G>T (p.Trp3263Leu)
|
|
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NM_001009944.3(PKD1):c.9789G>T (p.Trp3263Cys)
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|
NM_001009944.3(PKD1):c.9791T>C (p.Leu3264Pro)
|
|
|
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr)
|
rs1188643869
|
|
NM_001009944.3(PKD1):c.97T>C (p.Cys33Arg)
|
|
|
NM_001009944.3(PKD1):c.9800G>A (p.Trp3267Ter)
|
rs1460604173
|
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NM_001009944.3(PKD1):c.9806G>A (p.Arg3269Gln)
|
|
|
NM_001009944.3(PKD1):c.9818G>C (p.Ser3273Thr)
|
|
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NM_001009944.3(PKD1):c.9821dup (p.Thr3276fs)
|
|
|
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs)
|
rs1596512729
|
|
NM_001009944.3(PKD1):c.9827C>G (p.Thr3276Ser)
|
|
|
NM_001009944.3(PKD1):c.9827C>T (p.Thr3276Ile)
|
rs1367020335
|
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NM_001009944.3(PKD1):c.982C>T (p.Pro328Ser)
|
|
|
NM_001009944.3(PKD1):c.9830G>C (p.Arg3277Pro)
|
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NM_001009944.3(PKD1):c.9831C>T (p.Arg3277=)
|
|
|
NM_001009944.3(PKD1):c.9832A>G (p.Ile3278Val)
|
|
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NM_001009944.3(PKD1):c.9834C>G (p.Ile3278Met)
|
|
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NM_001009944.3(PKD1):c.9835C>T (p.Gln3279Ter)
|
|
|
NM_001009944.3(PKD1):c.9841G>C (p.Ala3281Pro)
|
rs1210319842
|
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NM_001009944.3(PKD1):c.9841del (p.Ala3281fs)
|
rs2092021706
|
|
NM_001009944.3(PKD1):c.9842C>G (p.Ala3281Gly)
|
|
|
NM_001009944.3(PKD1):c.9844A>C (p.Thr3282Pro)
|
|
|
NM_001009944.3(PKD1):c.9847T>C (p.Cys3283Arg)
|
rs2092021242
|
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NM_001009944.3(PKD1):c.9847dup (p.Cys3283fs)
|
|
|
NM_001009944.3(PKD1):c.9850T>C (p.Cys3284Arg)
|
rs2544712917
|
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NM_001009944.3(PKD1):c.9851G>A (p.Cys3284Tyr)
|
rs2544712909
|
|
NM_001009944.3(PKD1):c.9852C>A (p.Cys3284Ter)
|
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
NM_001009944.3(PKD1):c.9857T>A (p.Leu3286His)
|
|
|
NM_001009944.3(PKD1):c.9863del (p.Ile3288fs)
|
rs2544712802
|
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NM_001009944.3(PKD1):c.9867C>A (p.Cys3289Ter)
|
rs1420757773
|
|
NM_001009944.3(PKD1):c.9868C>G (p.Leu3290Val)
|
|
|
NM_001009944.3(PKD1):c.9868C>T (p.Leu3290Phe)
|
|
|
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
|
rs2544712716
|
|
NM_001009944.3(PKD1):c.9880G>T (p.Ala3294Ser)
|
rs1265262304
|
|
NM_001009944.3(PKD1):c.9881C>A (p.Ala3294Asp)
|
rs1596512512
|
|
NM_001009944.3(PKD1):c.9884A>G (p.Asn3295Ser)
|
|
|
NM_001009944.3(PKD1):c.9885del (p.Asn3295fs)
|
rs1596512492
|
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NM_001009944.3(PKD1):c.9886dup (p.Ala3296fs)
|
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
NM_001009944.3(PKD1):c.988C>G (p.Arg330Gly)
|
rs776765857
|
|
NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter)
|
rs1415277933
|
|
NM_001009944.3(PKD1):c.989G>A (p.Arg330His)
|
|
|
NM_001009944.3(PKD1):c.9904G>A (p.Val3302Ile)
|
|
|
NM_001009944.3(PKD1):c.9904G>C (p.Val3302Leu)
|
|
|
NM_001009944.3(PKD1):c.9904G>T (p.Val3302Phe)
|
|
|
NM_001009944.3(PKD1):c.9909C>T (p.Gly3303=)
|
|
|
NM_001009944.3(PKD1):c.9911A>C (p.Asp3304Ala)
|
|
|
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs)
|
rs1567169638
|
|
NM_001009944.3(PKD1):c.9918del (p.Tyr3307fs)
|
|
|
NM_001009944.3(PKD1):c.9924-10_9924dup
|
|
|
NM_001009944.3(PKD1):c.9924-1G>C
|
rs2151738493
|
|
NM_001009944.3(PKD1):c.9924-1G>T
|
|
|
NM_001009944.3(PKD1):c.9924-1_10050+1del
|
|
|
NM_001009944.3(PKD1):c.9924-9_9924-7del
|
rs892390487
|
|
NM_001009944.3(PKD1):c.9925A>C (p.Thr3309Pro)
|
rs1596511656
|
|
NM_001009944.3(PKD1):c.9925dup (p.Thr3309fs)
|
rs2151738483
|
|
NM_001009944.3(PKD1):c.992A>G (p.Tyr331Cys)
|
|
|
NM_001009944.3(PKD1):c.9930dup (p.His3311fs)
|
|
|
NM_001009944.3(PKD1):c.9931C>T (p.His3311Tyr)
|
rs1442974903
|
|
NM_001009944.3(PKD1):c.994C>T (p.His332Tyr)
|
|
|
NM_001009944.3(PKD1):c.9950C>T (p.Pro3317Leu)
|
|
|
NM_001009944.3(PKD1):c.9958G>A (p.Val3320Ile)
|
|
|
NM_001009944.3(PKD1):c.9964dup (p.Thr3322fs)
|
|
|
NM_001009944.3(PKD1):c.9965C>T (p.Thr3322Ile)
|
|
|
NM_001009944.3(PKD1):c.9965_9966del (p.Thr3322fs)
|
rs2544711045
|
|
NM_001009944.3(PKD1):c.9973G>T (p.Val3325Phe)
|
rs1384393685
|
|
NM_001009944.3(PKD1):c.9982G>T (p.Val3328Leu)
|
|
|
NM_001009944.3(PKD1):c.9983dup (p.Ser3329fs)
|
|
|
NM_001009944.3(PKD1):c.9988A>G (p.Ser3330Gly)
|
rs2092008791
|
|
NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs)
|
rs796053523
|
|
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met)
|
rs541894980
|
|
NM_001009944.3(PKD1):c.9992dup (p.Val3332fs)
|
|
|
NM_001009944.3(PKD1):c.9994del (p.Val3332fs)
|
rs1555449235
|
|
NM_001009944.3(PKD1):c.9997G>C (p.Val3333Leu)
|
|
|
NM_001009944.3(PKD1):c.99C>A (p.Cys33Ter)
|
rs2092941253
|
|
NM_001009944.3(PKD1):c.99del (p.Cys33fs)
|
rs2544960516
|
|
NM_001009944.3(PKD1):c.[7735_7737del;7972_7979del]
|
|
|
NM_001009944.3(PKD1):c.[8279T>C;8282G>C8291T>C]
|
|
|
NM_001009944.3(PKD1):c.[9428_9429insCACGA;9432_9433del]
|
|
|
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_001009944.3:c.1_8551del
|
|
|
NM_001009944.3:c.8914_(8948+1_8949-1)del
|
|
|
Single allele
|
|
|