NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=)
|
rs3087632
|
0.32172
|
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val)
|
rs10960
|
0.30294
|
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=)
|
rs2457533
|
0.27959
|
NM_001009944.3(PKD1):c.1850-4A>G
|
rs35929659
|
0.26721
|
NM_001009944.3(PKD1):c.9195G>C (p.Val3065=)
|
rs9935834
|
0.25891
|
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=)
|
rs9935526
|
0.25800
|
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=)
|
rs2003782
|
0.25615
|
NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=)
|
rs71385734
|
0.24531
|
NM_001009944.3(PKD1):c.9196T>C (p.Phe3066Leu)
|
rs9925969
|
0.23746
|
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=)
|
rs12926160
|
0.22231
|
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr)
|
rs2549677
|
0.20904
|
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=)
|
rs2369068
|
0.20812
|
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg)
|
rs9936785
|
0.19138
|
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=)
|
rs28575767
|
0.18662
|
NM_001009944.3(PKD1):c.9569-13T>C
|
rs11248911
|
0.16978
|
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=)
|
rs75510884
|
0.14645
|
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=)
|
rs74331768
|
0.14545
|
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val)
|
rs34197769
|
0.09456
|
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg)
|
rs116092985
|
0.07036
|
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=)
|
rs79884128
|
0.06100
|
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val)
|
rs3209986
|
0.05783
|
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=)
|
rs79899502
|
0.05705
|
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp)
|
rs13337123
|
0.05636
|
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg)
|
rs13333553
|
0.05104
|
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=)
|
rs35667726
|
0.05044
|
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=)
|
rs35965348
|
0.05024
|
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu)
|
rs61747420
|
0.04243
|
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile)
|
rs137978188
|
0.04174
|
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=)
|
rs11643513
|
0.03937
|
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=)
|
rs2099534
|
0.03878
|
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=)
|
rs143916489
|
0.03762
|
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=)
|
rs9926309
|
0.03447
|
NM_001009944.3(PKD1):c.8949-20G>A
|
rs9936029
|
0.03318
|
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=)
|
rs2575313
|
0.03243
|
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=)
|
rs7194935
|
0.03183
|
NM_001009944.3(PKD1):c.8948+17A>G
|
rs9928442
|
0.03177
|
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser)
|
rs149022148
|
0.03132
|
NM_001009944.3(PKD1):c.2854-5C>T
|
rs114846412
|
0.02895
|
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln)
|
rs28369051
|
0.02881
|
NM_001009944.3(PKD1):c.2214C>G (p.Pro738=)
|
rs543166733
|
0.02846
|
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=)
|
rs116114803
|
0.02380
|
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=)
|
rs116236042
|
0.01894
|
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=)
|
rs4018162
|
0.01868
|
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=)
|
rs144817614
|
0.01582
|
NM_001009944.3(PKD1):c.107C>A (p.Pro36His)
|
rs560049593
|
0.01538
|
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=)
|
rs189277711
|
0.01413
|
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=)
|
rs142357713
|
0.01372
|
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp)
|
rs142202785
|
0.01272
|
NM_001009944.3(PKD1):c.3489C>T (p.Phe1163=)
|
rs139744826
|
0.01269
|
NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=)
|
rs567482892
|
0.01235
|
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=)
|
rs114143642
|
0.01226
|
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)
|
rs147350387
|
0.01193
|
NM_001009944.3(PKD1):c.1539C>T (p.Pro513=)
|
rs550769703
|
0.01159
|
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)
|
rs144557371
|
0.01150
|
NM_001009944.3(PKD1):c.11156+13G>A
|
rs142616270
|
0.01065
|
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu)
|
rs139520275
|
0.00989
|
NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=)
|
rs78509585
|
0.00982
|
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln)
|
rs142129358
|
0.00924
|
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)
|
rs145776888
|
0.00910
|
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=)
|
rs115772084
|
0.00901
|
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=)
|
rs139752541
|
0.00890
|
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)
|
rs140869992
|
0.00811
|
NM_001009944.3(PKD1):c.1710C>T (p.His570=)
|
rs367983387
|
0.00775
|
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=)
|
rs149056734
|
0.00736
|
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=)
|
rs143784787
|
0.00720
|
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=)
|
rs113369380
|
0.00705
|
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met)
|
rs45478794
|
0.00702
|
NM_001009944.3(PKD1):c.7066-5G>A
|
rs372745980
|
0.00669
|
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)
|
rs149151043
|
0.00642
|
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=)
|
rs145737766
|
0.00637
|
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=)
|
rs76184385
|
0.00619
|
NM_000296.4(PKD1):c.11534+3_11534+5dup
|
rs201204878
|
0.00559
|
NM_001009944.3(PKD1):c.8161+8G>A
|
rs199569003
|
0.00559
|
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp)
|
rs55840049
|
0.00551
|
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=)
|
rs28674911
|
0.00534
|
NM_001009944.3(PKD1):c.3277C>T (p.His1093Tyr)
|
rs146352591
|
0.00519
|
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=)
|
rs144634185
|
0.00512
|
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr)
|
rs148164067
|
0.00508
|
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=)
|
rs117856830
|
0.00507
|
NM_001009944.3(PKD1):c.214C>T (p.Leu72=)
|
rs972113626
|
0.00498
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg)
|
rs147685291
|
0.00492
|
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr)
|
rs140980374
|
0.00485
|
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=)
|
rs202207855
|
0.00479
|
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=)
|
rs116216040
|
0.00469
|
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=)
|
rs62038811
|
0.00448
|
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=)
|
rs139399947
|
0.00411
|
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=)
|
rs149879790
|
0.00411
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)
|
rs141101590
|
0.00388
|
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=)
|
rs149938033
|
0.00366
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00364
|
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=)
|
rs143017410
|
0.00357
|
NM_001009944.3(PKD1):c.276G>A (p.Ala92=)
|
rs374518168
|
0.00354
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=)
|
rs80111665
|
0.00350
|
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)
|
rs145955373
|
0.00349
|
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp)
|
rs114251396
|
0.00335
|
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=)
|
rs57870377
|
0.00331
|
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)
|
rs112387277
|
0.00329
|
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln)
|
rs140189010
|
0.00328
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00324
|
NM_001009944.3(PKD1):c.3296-15G>A
|
rs201704201
|
0.00316
|
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile)
|
rs148478410
|
0.00312
|
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)
|
rs145217118
|
0.00290
|
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys)
|
rs146096401
|
0.00289
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00272
|
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=)
|
rs143013095
|
0.00239
|
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)
|
rs150949575
|
0.00237
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=)
|
rs147850232
|
0.00226
|
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
|
rs139971481
|
0.00222
|
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp)
|
rs143953714
|
0.00215
|
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)
|
rs369397443
|
0.00209
|
NM_001009944.3(PKD1):c.12664C>T (p.Leu4222=)
|
rs144370969
|
0.00202
|
NM_001009944.3(PKD1):c.837G>A (p.Gly279=)
|
rs372124319
|
0.00199
|
NM_001009944.3(PKD1):c.10406-4C>T
|
rs151095649
|
0.00198
|
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile)
|
rs147788838
|
0.00182
|
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys)
|
rs115538130
|
0.00178
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=)
|
rs137925121
|
0.00162
|
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=)
|
rs148852027
|
0.00161
|
NM_001009944.3(PKD1):c.5852G>A (p.Arg1951Gln)
|
rs137905643
|
0.00156
|
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)
|
rs144593342
|
0.00150
|
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)
|
rs200037070
|
0.00145
|
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=)
|
rs533569454
|
0.00144
|
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val)
|
rs139917246
|
0.00140
|
NM_001009944.3(PKD1):c.11538-11C>T
|
rs377692278
|
0.00139
|
NM_001009944.3(PKD1):c.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.11717G>T (p.Cys3906Phe)
|
rs369291413
|
0.00127
|
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
|
rs199569478
|
0.00125
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_001009944.3(PKD1):c.8844G>A (p.Ser2948=)
|
rs141713126
|
0.00124
|
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val)
|
rs144590217
|
0.00123
|
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile)
|
rs149874529
|
0.00121
|
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
NM_001009944.3(PKD1):c.588C>T (p.Ser196=)
|
rs776302294
|
0.00116
|
NM_001009944.3(PKD1):c.8161+12C>T
|
rs375283810
|
0.00113
|
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe)
|
rs537409943
|
0.00110
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00109
|
NM_001009944.3(PKD1):c.2266G>A (p.Ala756Thr)
|
rs763021570
|
0.00108
|
NM_001009944.3(PKD1):c.9924-11C>T
|
rs201154266
|
0.00108
|
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)
|
rs979342927
|
0.00102
|
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=)
|
rs145850037
|
0.00102
|
NM_001009944.3(PKD1):c.6915+14A>G
|
rs199559513
|
0.00101
|
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg)
|
rs79000340
|
0.00097
|
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=)
|
rs141138826
|
0.00094
|
NM_001009944.3(PKD1):c.2109C>T (p.His703=)
|
rs527655141
|
0.00093
|
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.6665C>T (p.Ala2222Val)
|
rs148496347
|
0.00091
|
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=)
|
rs149623670
|
0.00090
|
NM_001009944.3(PKD1):c.5433G>T (p.Glu1811Asp)
|
rs144124616
|
0.00083
|
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
|
0.00078
|
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser)
|
rs200279710
|
0.00076
|
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)
|
rs201509188
|
0.00075
|
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=)
|
rs570750726
|
0.00073
|
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)
|
rs141274774
|
0.00073
|
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=)
|
rs12102740
|
0.00073
|
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=)
|
rs138116334
|
0.00070
|
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr)
|
rs150568356
|
0.00069
|
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu)
|
rs886038369
|
0.00065
|
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile)
|
rs140991712
|
0.00065
|
NM_001009944.3(PKD1):c.9569-11C>T
|
rs188641836
|
0.00064
|
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=)
|
rs142606648
|
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.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)
|
rs140162759
|
0.00058
|
NM_001009944.3(PKD1):c.9713-4C>T
|
rs200434097
|
0.00058
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=)
|
rs371368338
|
0.00056
|
NM_001009944.3(PKD1):c.12139-5C>T
|
rs146430229
|
0.00055
|
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=)
|
rs547262346
|
0.00054
|
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met)
|
rs151089809
|
0.00054
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp)
|
rs184394342
|
0.00051
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn)
|
rs199700485
|
0.00049
|
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=)
|
rs143843155
|
0.00048
|
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=)
|
rs147253810
|
0.00047
|
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val)
|
rs972049140
|
0.00046
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
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.2193G>T (p.Pro731=)
|
rs768813212
|
0.00041
|
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)
|
rs748887038
|
0.00040
|
NM_001009944.3(PKD1):c.8335G>A (p.Glu2779Lys)
|
rs200491536
|
0.00040
|
NM_001009944.3(PKD1):c.10749C>T (p.Gly3583=)
|
rs111688332
|
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.5577T>C (p.Ala1859=)
|
rs140662778
|
0.00037
|
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=)
|
rs375384742
|
0.00036
|
NM_001009944.3(PKD1):c.5598C>T (p.Leu1866=)
|
rs200853000
|
0.00036
|
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)
|
rs201991587
|
0.00035
|
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=)
|
rs373880615
|
0.00034
|
NM_001009944.3(PKD1):c.423G>A (p.Glu141=)
|
rs9932419
|
0.00034
|
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=)
|
rs375408086
|
0.00033
|
NM_001009944.3(PKD1):c.7490-10C>T
|
rs201304767
|
0.00032
|
NM_001009944.3(PKD1):c.8042G>A (p.Arg2681His)
|
rs200742306
|
0.00032
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=)
|
rs141132307
|
0.00031
|
NM_001009944.3(PKD1):c.2707A>G (p.Ser903Gly)
|
rs4018172
|
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.11388C>G (p.Ala3796=)
|
rs149331148
|
0.00027
|
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu)
|
rs147464577
|
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.10939C>T (p.Arg3647Trp)
|
rs181927900
|
0.00025
|
NM_001009944.3(PKD1):c.8609G>A (p.Arg2870His)
|
rs200763681
|
0.00025
|
NM_001009944.3(PKD1):c.1723-74A>C
|
rs763895988
|
0.00024
|
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met)
|
rs147141131
|
0.00024
|
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala)
|
rs2239671
|
0.00024
|
NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys)
|
rs138672759
|
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.9187C>T (p.Arg3063Cys)
|
rs145906459
|
0.00023
|
NM_001009944.3(PKD1):c.10363C>T (p.Leu3455=)
|
rs114102239
|
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
|
0.00021
|
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)
|
rs950293866
|
0.00020
|
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr)
|
rs201599671
|
0.00020
|
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys)
|
rs150154235
|
0.00020
|
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=)
|
rs556575921
|
0.00020
|
NM_001009944.3(PKD1):c.9548G>A (p.Arg3183Gln)
|
rs79648977
|
0.00020
|
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=)
|
rs376838860
|
0.00019
|
NM_001009944.3(PKD1):c.1117C>G (p.Leu373Val)
|
rs765067070
|
0.00019
|
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=)
|
rs759092782
|
0.00019
|
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)
|
rs372882189
|
0.00019
|
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys)
|
rs770514810
|
0.00019
|
NM_001009944.3(PKD1):c.4779G>C (p.Gly1593=)
|
rs138857576
|
0.00019
|
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)
|
rs556618384
|
0.00019
|
NM_001009944.3(PKD1):c.10168-8C>T
|
rs199808929
|
0.00018
|
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)
|
rs201409107
|
0.00018
|
NM_001009944.3(PKD1):c.11412-6C>T
|
rs367775096
|
0.00018
|
NM_001009944.3(PKD1):c.5665G>A (p.Gly1889Ser)
|
rs138471993
|
0.00018
|
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp)
|
rs746771378
|
0.00017
|
NM_001009944.3(PKD1):c.3726G>A (p.Thr1242=)
|
rs146243410
|
0.00017
|
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=)
|
rs142391112
|
0.00017
|
NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile)
|
rs145532417
|
0.00017
|
NM_001009944.3(PKD1):c.8751G>A (p.Ala2917=)
|
rs746333408
|
0.00017
|
NM_001009944.3(PKD1):c.12075G>A (p.Glu4025=)
|
rs754786423
|
0.00016
|
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln)
|
rs759950842
|
0.00016
|
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=)
|
rs767721989
|
0.00016
|
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys)
|
rs773407492
|
0.00016
|
NM_001009944.3(PKD1):c.543C>T (p.Val181=)
|
rs1365608859
|
0.00016
|
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg)
|
rs200001471
|
0.00016
|
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val)
|
rs183084156
|
0.00016
|
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=)
|
rs374619113
|
0.00016
|
NM_001009944.3(PKD1):c.9451C>T (p.His3151Tyr)
|
rs149872222
|
0.00016
|
NM_001009944.3(PKD1):c.3994G>A (p.Asp1332Asn)
|
rs773388081
|
0.00015
|
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu)
|
rs200646755
|
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.8041C>T (p.Arg2681Cys)
|
rs540634317
|
0.00014
|
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=)
|
rs199988586
|
0.00014
|
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met)
|
rs767665300
|
0.00013
|
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=)
|
rs183090717
|
0.00013
|
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp)
|
rs373256534
|
0.00013
|
NM_001009944.3(PKD1):c.6819C>G (p.Asp2273Glu)
|
rs372298966
|
0.00013
|
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys)
|
rs781114712
|
0.00013
|
NM_001009944.3(PKD1):c.726T>C (p.Phe242=)
|
rs750727364
|
0.00013
|
NM_001009944.3(PKD1):c.7791A>G (p.Pro2597=)
|
rs566533475
|
0.00013
|
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=)
|
rs143124196
|
0.00013
|
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln)
|
rs1800569
|
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.5770G>A (p.Gly1924Ser)
|
rs199947459
|
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.8914G>A (p.Asp2972Asn)
|
rs150189496
|
0.00012
|
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg)
|
rs777024498
|
0.00012
|
NM_001009944.3(PKD1):c.10099A>G (p.Ile3367Val)
|
rs773989174
|
0.00011
|
NM_001009944.3(PKD1):c.10405+7T>C
|
rs201762369
|
0.00011
|
NM_001009944.3(PKD1):c.11135G>A (p.Arg3712Gln)
|
rs144624467
|
0.00011
|
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=)
|
rs561467860
|
0.00011
|
NM_001009944.3(PKD1):c.3525G>A (p.Pro1175=)
|
rs375443604
|
0.00011
|
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu)
|
rs201062488
|
0.00011
|
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=)
|
rs146363575
|
0.00011
|
NM_001009944.3(PKD1):c.7918G>T (p.Ala2640Ser)
|
rs768100426
|
0.00011
|
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp)
|
rs769208706
|
0.00010
|
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala)
|
rs766549097
|
0.00010
|
NM_001009944.3(PKD1):c.3486C>G (p.Asp1162Glu)
|
rs144211349
|
0.00010
|
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=)
|
rs772143717
|
0.00010
|
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln)
|
rs62038819
|
0.00010
|
NM_001009944.3(PKD1):c.7906C>T (p.Arg2636Trp)
|
rs200907085
|
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.10872G>A (p.Pro3624=)
|
rs201417193
|
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.4053G>T (p.Arg1351=)
|
rs371149993
|
0.00009
|
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe)
|
rs543561238
|
0.00009
|
NM_001009944.3(PKD1):c.5449G>A (p.Val1817Met)
|
rs149713462
|
0.00009
|
NM_001009944.3(PKD1):c.6099G>A (p.Ala2033=)
|
rs376744819
|
0.00009
|
NM_001009944.3(PKD1):c.6244G>A (p.Ala2082Thr)
|
rs377235337
|
0.00009
|
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp)
|
rs751031560
|
0.00009
|
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln)
|
rs367746233
|
0.00009
|
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr)
|
rs556305338
|
0.00009
|
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile)
|
rs751776839
|
0.00008
|
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp)
|
rs551353498
|
0.00008
|
NM_001009944.3(PKD1):c.4512C>T (p.Asp1504=)
|
rs774929658
|
0.00008
|
NM_001009944.3(PKD1):c.8620G>A (p.Val2874Met)
|
rs574287355
|
0.00008
|
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)
|
rs374609310
|
0.00007
|
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=)
|
rs1344519371
|
0.00007
|
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)
|
rs746910149
|
0.00007
|
NM_001009944.3(PKD1):c.5772C>T (p.Gly1924=)
|
rs541661201
|
0.00007
|
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr)
|
rs779342040
|
0.00007
|
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys)
|
rs554493059
|
0.00007
|
NM_001009944.3(PKD1):c.8195G>A (p.Arg2732Gln)
|
rs78185588
|
0.00007
|
NM_001009944.3(PKD1):c.10429C>A (p.Leu3477Ile)
|
rs62621452
|
0.00006
|
NM_001009944.3(PKD1):c.11978C>T (p.Ser3993Leu)
|
rs775512866
|
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.2854-12T>G
|
rs1446095876
|
0.00006
|
NM_001009944.3(PKD1):c.3796C>T (p.Arg1266Trp)
|
rs376754657
|
0.00006
|
NM_001009944.3(PKD1):c.4916G>C (p.Gly1639Ala)
|
rs1178172751
|
0.00006
|
NM_001009944.3(PKD1):c.5180C>T (p.Pro1727Leu)
|
rs373060372
|
0.00006
|
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser)
|
rs376618983
|
0.00006
|
NM_001009944.3(PKD1):c.8186C>T (p.Ser2729Leu)
|
rs371541730
|
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.1515C>T (p.Ala505=)
|
rs748123570
|
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.7488G>A (p.Thr2496=)
|
rs776604789
|
0.00005
|
NM_001009944.3(PKD1):c.8191G>A (p.Val2731Met)
|
rs138906895
|
0.00005
|
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys)
|
rs773857360
|
0.00005
|
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser)
|
rs886265852
|
0.00005
|
NM_001009944.3(PKD1):c.9625C>T (p.Arg3209Cys)
|
rs147967021
|
0.00005
|
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys)
|
rs531854741
|
0.00005
|
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile)
|
rs754956606
|
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.11030A>G (p.Tyr3677Cys)
|
rs553106581
|
0.00004
|
NM_001009944.3(PKD1):c.11747T>C (p.Val3916Ala)
|
rs925883193
|
0.00004
|
NM_001009944.3(PKD1):c.12146C>T (p.Ser4049Phe)
|
rs757666977
|
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.1723-45G>T
|
rs773310661
|
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.3429C>T (p.Pro1143=)
|
rs377661579
|
0.00004
|
NM_001009944.3(PKD1):c.4147G>A (p.Val1383Ile)
|
rs201627517
|
0.00004
|
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met)
|
rs368161263
|
0.00004
|
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
|
rs760993331
|
0.00004
|
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser)
|
rs544092291
|
0.00004
|
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro)
|
rs773527738
|
0.00004
|
NM_001009944.3(PKD1):c.5911G>A (p.Val1971Met)
|
rs140434415
|
0.00004
|
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe)
|
rs771932172
|
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.8002C>G (p.Leu2668Val)
|
rs761726794
|
0.00004
|
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg)
|
rs202086892
|
0.00004
|
NM_001009944.3(PKD1):c.9228C>T (p.Ile3076=)
|
rs532264532
|
0.00004
|
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His)
|
rs1063405
|
0.00004
|
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr)
|
rs533152302
|
0.00004
|
NM_001009944.3(PKD1):c.9708C>T (p.Ala3236=)
|
rs755291122
|
0.00004
|
NM_001009944.3(PKD1):c.10435G>A (p.Glu3479Lys)
|
rs779460999
|
0.00003
|
NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp)
|
rs140389000
|
0.00003
|
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile)
|
rs200120839
|
0.00003
|
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser)
|
rs1320256969
|
0.00003
|
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)
|
rs773329559
|
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.4447C>T (p.Gln1483Ter)
|
rs1567200098
|
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.5645C>T (p.Thr1882Met)
|
rs772716160
|
0.00003
|
NM_001009944.3(PKD1):c.5777C>T (p.Ala1926Val)
|
rs754890213
|
0.00003
|
NM_001009944.3(PKD1):c.6001C>T (p.Arg2001Trp)
|
rs773069152
|
0.00003
|
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu)
|
rs767363184
|
0.00003
|
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr)
|
rs771364071
|
0.00003
|
NM_001009944.3(PKD1):c.7456G>A (p.Ala2486Thr)
|
rs567983155
|
0.00003
|
NM_001009944.3(PKD1):c.7720C>T (p.Leu2574Phe)
|
rs762784886
|
0.00003
|
NM_001009944.3(PKD1):c.8161+3G>A
|
rs753886023
|
0.00003
|
NM_001009944.3(PKD1):c.8394C>T (p.Gly2798=)
|
rs760811822
|
0.00003
|
NM_001009944.3(PKD1):c.8814T>C (p.Pro2938=)
|
rs3204450
|
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.9853G>A (p.Val3285Ile)
|
rs201780393
|
0.00003
|
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr)
|
rs1422578175
|
0.00003
|
NM_001009944.3(PKD1):c.10890G>A (p.Leu3630=)
|
rs776822071
|
0.00002
|
NM_001009944.3(PKD1):c.11198C>T (p.Pro3733Leu)
|
rs2091644809
|
0.00002
|
NM_001009944.3(PKD1):c.11972C>T (p.Ala3991Val)
|
rs761577523
|
0.00002
|
NM_001009944.3(PKD1):c.12486C>A (p.Pro4162=)
|
rs759210811
|
0.00002
|
NM_001009944.3(PKD1):c.12515C>A (p.Ser4172Tyr)
|
rs781744375
|
0.00002
|
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys)
|
rs765408067
|
0.00002
|
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val)
|
rs775988021
|
0.00002
|
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys)
|
rs1085307552
|
0.00002
|
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=)
|
rs754575596
|
0.00002
|
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn)
|
rs553360241
|
0.00002
|
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys)
|
rs755462601
|
0.00002
|
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu)
|
rs781681199
|
0.00002
|
NM_001009944.3(PKD1):c.6529G>A (p.Asp2177Asn)
|
rs747794812
|
0.00002
|
NM_001009944.3(PKD1):c.7479C>G (p.Phe2493Leu)
|
rs752349510
|
0.00002
|
NM_001009944.3(PKD1):c.747C>T (p.Ser249=)
|
rs568816990
|
0.00002
|
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly)
|
rs3874655
|
0.00002
|
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met)
|
rs748496650
|
0.00002
|
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu)
|
rs769345341
|
0.00002
|
NM_001009944.3(PKD1):c.8619C>T (p.Thr2873=)
|
rs143419418
|
0.00002
|
NM_001009944.3(PKD1):c.8795A>G (p.His2932Arg)
|
rs201524173
|
0.00002
|
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile)
|
rs966307189
|
0.00002
|
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
|
rs776866974
|
0.00002
|
NM_001009944.3(PKD1):c.9713-17C>G
|
rs766238514
|
0.00002
|
NM_001009944.3(PKD1):c.10027C>T (p.Leu3343Phe)
|
rs1158465434
|
0.00001
|
NM_001009944.3(PKD1):c.10163C>G (p.Ala3388Gly)
|
rs780451430
|
0.00001
|
NM_001009944.3(PKD1):c.10481C>T (p.Thr3494Met)
|
rs752503970
|
0.00001
|
NM_001009944.3(PKD1):c.10687C>T (p.Leu3563=)
|
rs770693846
|
0.00001
|
NM_001009944.3(PKD1):c.10822-4C>G
|
rs1213585339
|
0.00001
|
NM_001009944.3(PKD1):c.10978G>A (p.Glu3660Lys)
|
rs2091704414
|
0.00001
|
NM_001009944.3(PKD1):c.11156+5G>A
|
rs781007377
|
0.00001
|
NM_001009944.3(PKD1):c.11293C>T (p.Pro3765Ser)
|
rs751392918
|
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.1207C>T (p.His403Tyr)
|
rs999510631
|
0.00001
|
NM_001009944.3(PKD1):c.12325C>T (p.Arg4109Cys)
|
rs750666594
|
0.00001
|
NM_001009944.3(PKD1):c.12441G>A (p.Lys4147=)
|
rs201747031
|
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.12640C>T (p.Arg4214Cys)
|
rs569380424
|
0.00001
|
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro)
|
rs1230641065
|
0.00001
|
NM_001009944.3(PKD1):c.12778C>T (p.Arg4260Cys)
|
rs755897784
|
0.00001
|
NM_001009944.3(PKD1):c.1304A>G (p.Gln435Arg)
|
rs1426435123
|
0.00001
|
NM_001009944.3(PKD1):c.1723-8C>T
|
rs1346125385
|
0.00001
|
NM_001009944.3(PKD1):c.1723-9G>T
|
rs950014250
|
0.00001
|
NM_001009944.3(PKD1):c.1844C>T (p.Thr615Ile)
|
rs749734579
|
0.00001
|
NM_001009944.3(PKD1):c.1999A>G (p.Asn667Asp)
|
rs1351098350
|
0.00001
|
NM_001009944.3(PKD1):c.2233G>T (p.Ala745Ser)
|
rs995499499
|
0.00001
|
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile)
|
rs928084406
|
0.00001
|
NM_001009944.3(PKD1):c.2429A>G (p.Asn810Ser)
|
rs745343302
|
0.00001
|
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro)
|
rs2369063
|
0.00001
|
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val)
|
rs1393997103
|
0.00001
|
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp)
|
rs751946869
|
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.3205C>T (p.Pro1069Ser)
|
rs754703070
|
0.00001
|
NM_001009944.3(PKD1):c.3242C>T (p.Ser1081Leu)
|
rs377441860
|
0.00001
|
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly)
|
rs751293870
|
0.00001
|
NM_001009944.3(PKD1):c.4014C>T (p.Thr1338=)
|
rs577199866
|
0.00001
|
NM_001009944.3(PKD1):c.4339G>A (p.Ala1447Thr)
|
rs535676910
|
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.4662T>C (p.Asn1554=)
|
rs778135756
|
0.00001
|
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met)
|
rs2575314
|
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.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
|
rs374424212
|
0.00001
|
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn)
|
rs1199050207
|
0.00001
|
NM_001009944.3(PKD1):c.5203A>T (p.Ser1735Cys)
|
rs1064796417
|
0.00001
|
NM_001009944.3(PKD1):c.5216G>C (p.Ser1739Thr)
|
rs772457591
|
0.00001
|
NM_001009944.3(PKD1):c.6306G>A (p.Gly2102=)
|
rs368223012
|
0.00001
|
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val)
|
rs368987928
|
0.00001
|
NM_001009944.3(PKD1):c.6514C>G (p.His2172Asp)
|
rs762002707
|
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.6739G>A (p.Ala2247Thr)
|
rs749515571
|
0.00001
|
NM_001009944.3(PKD1):c.6905C>T (p.Ala2302Val)
|
rs776538508
|
0.00001
|
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met)
|
rs758620810
|
0.00001
|
NM_001009944.3(PKD1):c.709C>G (p.Pro237Ala)
|
rs1350910449
|
0.00001
|
NM_001009944.3(PKD1):c.7183A>T (p.Asn2395Tyr)
|
rs763140198
|
0.00001
|
NM_001009944.3(PKD1):c.7284C>T (p.Gly2428=)
|
rs1177672366
|
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.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile)
|
rs566531762
|
0.00001
|
NM_001009944.3(PKD1):c.8116A>C (p.Thr2706Pro)
|
rs1430379983
|
0.00001
|
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu)
|
rs760592410
|
0.00001
|
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His)
|
rs770080914
|
0.00001
|
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met)
|
rs1456510041
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser)
|
rs1057523051
|
0.00001
|
NM_001009944.3(PKD1):c.8998C>T (p.Arg3000Cys)
|
rs1279596250
|
0.00001
|
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)
|
rs1358566538
|
0.00001
|
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp)
|
rs1384099162
|
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.9815G>A (p.Arg3272His)
|
rs1452116333
|
0.00001
|
NM_001009944.3(PKD1):c.9841G>A (p.Ala3281Thr)
|
rs1210319842
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:2154130-2185078)x3
|
|
|
NM_001009944.3(PKD1):c.10026dup (p.Leu3343fs)
|
rs1567169118
|
|
NM_001009944.3(PKD1):c.10033C>T (p.Arg3345Trp)
|
|
|
NM_001009944.3(PKD1):c.10051-3C>G
|
|
|
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter)
|
rs1567166045
|
|
NM_001009944.3(PKD1):c.10102G>A (p.Asp3368Asn)
|
|
|
NM_001009944.3(PKD1):c.10122C>T (p.Ser3374=)
|
|
|
NM_001009944.3(PKD1):c.10136C>G (p.Ser3379Cys)
|
|
|
NM_001009944.3(PKD1):c.10137C>T (p.Ser3379=)
|
|
|
NM_001009944.3(PKD1):c.10151C>G (p.Ser3384Ter)
|
rs1383556063
|
|
NM_001009944.3(PKD1):c.1015_1073delinsGT (p.Leu339_Ala358delinsVal)
|
|
|
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.10182A>G (p.Gly3394=)
|
rs1490595478
|
|
NM_001009944.3(PKD1):c.1019G>A (p.Gly340Glu)
|
|
|
NM_001009944.3(PKD1):c.10233del (p.Trp3411fs)
|
rs1596501760
|
|
NM_001009944.3(PKD1):c.10236del (p.Ser3413fs)
|
|
|
NM_001009944.3(PKD1):c.10247del (p.Gly3416fs)
|
rs1596501702
|
|
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter)
|
rs2151727019
|
|
NM_001009944.3(PKD1):c.10285A>G (p.Ile3429Val)
|
|
|
NM_001009944.3(PKD1):c.10366G>A (p.Ala3456Thr)
|
|
|
NM_001009944.3(PKD1):c.10377C>G (p.Tyr3459Ter)
|
rs1596501163
|
|
NM_001009944.3(PKD1):c.10387A>T (p.Lys3463Ter)
|
rs150020128
|
|
NM_001009944.3(PKD1):c.10391C>T (p.Ser3464Phe)
|
|
|
NM_001009944.3(PKD1):c.1039_1045del (p.Gly347fs)
|
rs1567217194
|
|
NM_001009944.3(PKD1):c.10405+5G>T
|
rs2091888953
|
|
NM_001009944.3(PKD1):c.10407T>A (p.Asp3469Glu)
|
rs373139880
|
|
NM_001009944.3(PKD1):c.10417_10419delinsT (p.Ile3473fs)
|
rs1567164013
|
|
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)
|
rs1064794206
|
|
NM_001009944.3(PKD1):c.10441del (p.Val3481fs)
|
rs2091884240
|
|
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs)
|
rs2091883381
|
|
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.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.10540C>T (p.Gln3514Ter)
|
rs1567159623
|
|
NM_001009944.3(PKD1):c.10552_10585del (p.Glu3518fs)
|
rs1567159386
|
|
NM_001009944.3(PKD1):c.10574G>T (p.Gly3525Val)
|
rs114523369
|
|
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=)
|
rs745763060
|
|
NM_001009944.3(PKD1):c.10588C>T (p.Gln3530Ter)
|
rs1596490025
|
|
NM_001009944.3(PKD1):c.10602G>A (p.Ala3534=)
|
rs572474052
|
|
NM_001009944.3(PKD1):c.10618+2T>G
|
rs1555447153
|
|
NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu)
|
|
|
NM_001009944.3(PKD1):c.10658G>A (p.Trp3553Ter)
|
rs1321748065
|
|
NM_001009944.3(PKD1):c.10663G>A (p.Ala3555Thr)
|
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])
|
rs777460677
|
|
NM_001009944.3(PKD1):c.10700C>T (p.Ala3567Val)
|
rs2151708958
|
|
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.10745dup (p.Val3584fs)
|
rs1555447011
|
|
NM_001009944.3(PKD1):c.1075C>G (p.Leu359Val)
|
rs1057524759
|
|
NM_001009944.3(PKD1):c.10764G>A (p.Trp3588Ter)
|
|
|
NM_001009944.3(PKD1):c.10764G>T (p.Trp3588Cys)
|
rs2151708577
|
|
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe)
|
rs2091723749
|
|
NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu)
|
|
|
NM_001009944.3(PKD1):c.10819A>G (p.Lys3607Glu)
|
rs2151708378
|
|
NM_001009944.3(PKD1):c.10821+1del
|
rs1596488828
|
|
NM_001009944.3(PKD1):c.10842C>G (p.Tyr3614Ter)
|
|
|
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met)
|
rs1428207672
|
|
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro)
|
rs1567158067
|
|
NM_001009944.3(PKD1):c.10940G>A (p.Arg3647Gln)
|
rs1415072762
|
|
NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr)
|
rs2091706456
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.10961T>A (p.Leu3654His)
|
rs1555446828
|
|
NM_001009944.3(PKD1):c.10964del (p.Phe3655fs)
|
|
|
NM_001009944.3(PKD1):c.1097C>A (p.Ser366Ter)
|
rs752356523
|
|
NM_001009944.3(PKD1):c.10998del (p.Arg3666fs)
|
rs1567157447
|
|
NM_001009944.3(PKD1):c.109del (p.Cys37fs)
|
rs2151858299
|
|
NM_001009944.3(PKD1):c.11007C>T (p.Gly3669=)
|
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
NM_001009944.3(PKD1):c.11017-16dup
|
rs543923323
|
|
NM_001009944.3(PKD1):c.1104G>C (p.Gln368His)
|
|
|
NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs)
|
rs1555446611
|
|
NM_001009944.3(PKD1):c.1105_1106del (p.Gln368_Ser369insTer)
|
|
|
NM_001009944.3(PKD1):c.11087G>A (p.Gly3696Glu)
|
rs2151704449
|
|
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.11122G>T (p.Glu3708Ter)
|
rs1596485816
|
|
NM_001009944.3(PKD1):c.11156+1G>T
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)
|
rs1555446576
|
|
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala)
|
rs780574700
|
|
NM_001009944.3(PKD1):c.11161dup (p.Glu3721fs)
|
rs2151702333
|
|
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)
|
rs1555446411
|
|
NM_001009944.3(PKD1):c.11178G>C (p.Trp3726Cys)
|
rs2091645594
|
|
NM_001009944.3(PKD1):c.11187C>A (p.His3729Gln)
|
|
|
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.11207A>G (p.His3736Arg)
|
rs2151702137
|
|
NM_001009944.3(PKD1):c.11214C>G (p.Asn3738Lys)
|
rs2151702101
|
|
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro)
|
rs546924823
|
|
NM_001009944.3(PKD1):c.11246T>C (p.Leu3749Pro)
|
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
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.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.11263C>T (p.Gln3755Ter)
|
rs2091642103
|
|
NM_001009944.3(PKD1):c.11270-10T>G
|
|
|
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs)
|
rs1555446105
|
|
NM_001009944.3(PKD1):c.112C>G (p.Leu38Val)
|
rs1030433875
|
|
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)
|
rs201085734
|
|
NM_001009944.3(PKD1):c.11319A>G (p.Ala3773=)
|
|
|
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_11346dup (p.Asp3782_Val3783insTyrAsp)
|
rs2151699578
|
|
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)
|
rs2091619053
|
|
NM_001009944.3(PKD1):c.11344del (p.Asp3782fs)
|
rs2091618928
|
|
NM_001009944.3(PKD1):c.11355G>T (p.Trp3785Cys)
|
rs2091617906
|
|
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)
|
rs1567153758
|
|
NM_001009944.3(PKD1):c.11384G>A (p.Trp3795Ter)
|
rs2151699315
|
|
NM_001009944.3(PKD1):c.11385G>A (p.Trp3795Ter)
|
|
|
NM_001009944.3(PKD1):c.11385G>T (p.Trp3795Cys)
|
|
|
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys)
|
rs138629093
|
|
NM_001009944.3(PKD1):c.11397G>A (p.Ala3799=)
|
|
|
NM_001009944.3(PKD1):c.11399C>G (p.Pro3800Arg)
|
rs2091613857
|
|
NM_001009944.3(PKD1):c.11399C>T (p.Pro3800Leu)
|
|
|
NM_001009944.3(PKD1):c.11406G>A (p.Leu3802=)
|
|
|
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.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11432G>A (p.Cys3811Tyr)
|
rs1596481794
|
|
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)
|
rs1555445740
|
|
NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs)
|
rs1567153194
|
|
NM_001009944.3(PKD1):c.11471del (p.Gly3824fs)
|
|
|
NM_001009944.3(PKD1):c.11482GAG[1] (p.Glu3829del)
|
rs1596481630
|
|
NM_001009944.3(PKD1):c.11496C>G (p.Asp3832Glu)
|
|
|
NM_001009944.3(PKD1):c.11501T>G (p.Leu3834Arg)
|
|
|
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)
|
rs199476096
|
|
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.11538-32C>T
|
|
|
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro)
|
rs2151695909
|
|
NM_001009944.3(PKD1):c.11563dup (p.Thr3855fs)
|
rs1596480400
|
|
NM_001009944.3(PKD1):c.11570dup (p.Tyr3857Ter)
|
rs1555445579
|
|
NM_001009944.3(PKD1):c.11579C>T (p.Ala3860Val)
|
rs2091579119
|
|
NM_001009944.3(PKD1):c.11600T>A (p.Val3867Asp)
|
|
|
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg)
|
rs1555445569
|
|
NM_001009944.3(PKD1):c.11621del (p.Pro3874fs)
|
rs2151695543
|
|
NM_001009944.3(PKD1):c.1162G>A (p.Ala388Thr)
|
|
|
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs)
|
rs2151695288
|
|
NM_001009944.3(PKD1):c.11646C>G (p.Ala3882=)
|
rs1233644486
|
|
NM_001009944.3(PKD1):c.11654T>G (p.Val3885Gly)
|
|
|
NM_001009944.3(PKD1):c.11656C>A (p.Arg3886Ser)
|
rs1057522812
|
|
NM_001009944.3(PKD1):c.11689C>T (p.Leu3897Phe)
|
|
|
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs)
|
rs2151695024
|
|
NM_001009944.3(PKD1):c.116G>A (p.Cys39Tyr)
|
rs2151858290
|
|
NM_001009944.3(PKD1):c.11712+1G>C
|
rs2091571329
|
|
NM_001009944.3(PKD1):c.11713-1G>A
|
rs867092741
|
|
NM_001009944.3(PKD1):c.11713-2A>G
|
rs1555445274
|
|
NM_001009944.3(PKD1):c.11740T>C (p.Phe3914Leu)
|
|
|
NM_001009944.3(PKD1):c.11744C>A (p.Ala3915Asp)
|
rs778893944
|
|
NM_001009944.3(PKD1):c.11762C>G (p.Thr3921Ser)
|
rs762372063
|
|
NM_001009944.3(PKD1):c.11783G>A (p.Trp3928Ter)
|
rs764746483
|
|
NM_001009944.3(PKD1):c.11799C>T (p.Leu3933=)
|
|
|
NM_001009944.3(PKD1):c.11816G>A (p.Trp3939Ter)
|
|
|
NM_001009944.3(PKD1):c.11835GGC[1] (p.Ala3947del)
|
|
|
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro)
|
|
|
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)
|
rs2091493090
|
|
NM_001009944.3(PKD1):c.11864A>T (p.Gln3955Leu)
|
|
|
NM_001009944.3(PKD1):c.11868_11869insACT (p.Leu3956_Gly3957insThr)
|
rs1567149662
|
|
NM_001009944.3(PKD1):c.11880C>A (p.Asp3960Glu)
|
rs754037517
|
|
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)
|
rs1596476503
|
|
NM_001009944.3(PKD1):c.11893C>A (p.Arg3965Ser)
|
|
|
NM_001009944.3(PKD1):c.11904C>G (p.Arg3968=)
|
|
|
NM_001009944.3(PKD1):c.11906G>T (p.Gly3969Val)
|
|
|
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.11921_11942dup (p.Ala3981_Gln3982insHisTer)
|
rs1596476300
|
|
NM_001009944.3(PKD1):c.11924C>T (p.Thr3975Ile)
|
rs760251071
|
|
NM_001009944.3(PKD1):c.11930dup (p.Asp3978fs)
|
rs2151686766
|
|
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)
|
rs1161012209
|
|
NM_001009944.3(PKD1):c.11955C>G (p.Ser3985=)
|
rs369544915
|
|
NM_001009944.3(PKD1):c.11986_12000del (p.Phe3996_Val4000del)
|
rs1567148933
|
|
NM_001009944.3(PKD1):c.11989C>T (p.Leu3997=)
|
|
|
NM_001009944.3(PKD1):c.1198C>G (p.Arg400Gly)
|
|
|
NM_001009944.3(PKD1):c.12003+14_12003+33del
|
rs1567148835
|
|
NM_001009944.3(PKD1):c.12003+5G>T
|
rs1596476034
|
|
NM_001009944.3(PKD1):c.12004-1G>C
|
|
|
NM_001009944.3(PKD1):c.12004-2A>G
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.1201+1G>A
|
rs1596588978
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.12019C>A (p.Arg4007Ser)
|
rs767826564
|
|
NM_001009944.3(PKD1):c.1202-3C>A
|
|
|
NM_001009944.3(PKD1):c.1202-9G>A
|
rs1596588606
|
|
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)
|
rs1555444985
|
|
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
|
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter)
|
rs1218054241
|
|
NM_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs)
|
rs1596475245
|
|
NM_001009944.3(PKD1):c.12048C>T (p.Gly4016=)
|
rs756122519
|
|
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)
|
rs764431330
|
|
NM_001009944.3(PKD1):c.12068T>G (p.Leu4023Arg)
|
rs2151684704
|
|
NM_001009944.3(PKD1):c.1206_1207del (p.His403fs)
|
rs1567216675
|
|
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.12100del (p.Val4034fs)
|
|
|
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg)
|
rs767579073
|
|
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)
|
rs199476094
|
|
NM_001009944.3(PKD1):c.12138+15G>A
|
|
|
NM_001009944.3(PKD1):c.12139-1G>T
|
rs1596474257
|
|
NM_001009944.3(PKD1):c.12139-3C>G
|
rs746284946
|
|
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe)
|
rs186160250
|
|
NM_001009944.3(PKD1):c.12162C>T (p.Ser4054=)
|
rs143802974
|
|
NM_001009944.3(PKD1):c.12165del (p.Trp4056fs)
|
rs1596474136
|
|
NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs)
|
rs1596474115
|
|
NM_001009944.3(PKD1):c.12173T>G (p.Val4058Gly)
|
rs80360485
|
|
NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs)
|
rs1555444715
|
|
NM_001009944.3(PKD1):c.12236C>T (p.Ser4079Phe)
|
|
|
NM_001009944.3(PKD1):c.12237C>T (p.Ser4079=)
|
rs372534935
|
|
NM_001009944.3(PKD1):c.12244_12245del (p.Leu4082fs)
|
|
|
NM_001009944.3(PKD1):c.12251C>T (p.Pro4084Leu)
|
|
|
NM_001009944.3(PKD1):c.12263T>G (p.Val4088Gly)
|
rs1201701234
|
|
NM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs)
|
rs1555444648
|
|
NM_001009944.3(PKD1):c.12307del (p.Ala4103fs)
|
rs2091442608
|
|
NM_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs)
|
rs1555444602
|
|
NM_001009944.3(PKD1):c.12323G>A (p.Trp4108Ter)
|
|
|
NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs)
|
rs2091440547
|
|
NM_001009944.3(PKD1):c.12344dup (p.Glu4116fs)
|
rs1596473434
|
|
NM_001009944.3(PKD1):c.12354C>A (p.Tyr4118Ter)
|
rs1188292999
|
|
NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del)
|
|
|
NM_001009944.3(PKD1):c.12387G>A (p.Met4129Ile)
|
|
|
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)
|
rs1555444468
|
|
NM_001009944.3(PKD1):c.12402G>A (p.Leu4134=)
|
|
|
NM_001009944.3(PKD1):c.12403dup (p.Arg4135fs)
|
rs2091435565
|
|
NM_001009944.3(PKD1):c.12404G>T (p.Arg4135Leu)
|
|
|
NM_001009944.3(PKD1):c.12406A>T (p.Arg4136Trp)
|
|
|
NM_001009944.3(PKD1):c.12444G>C (p.Glu4148Asp)
|
rs1567145638
|
|
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.12461G>A (p.Arg4154His)
|
|
|
NM_001009944.3(PKD1):c.12492C>T (p.Arg4164=)
|
rs536381522
|
|
NM_001009944.3(PKD1):c.12506C>T (p.Ser4169Phe)
|
|
|
NM_001009944.3(PKD1):c.12507del (p.Lys4170fs)
|
rs2091410164
|
|
NM_001009944.3(PKD1):c.12569C>T (p.Ser4190Phe)
|
|
|
NM_001009944.3(PKD1):c.1256_1258del (p.Cys419del)
|
|
|
NM_001009944.3(PKD1):c.12570C>T (p.Ser4190=)
|
|
|
NM_001009944.3(PKD1):c.12573C>T (p.Ser4191=)
|
|
|
NM_001009944.3(PKD1):c.12577C>T (p.Gln4193Ter)
|
|
|
NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs)
|
rs1567144266
|
|
NM_001009944.3(PKD1):c.1259A>G (p.Tyr420Cys)
|
rs755878230
|
|
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
|
|
|
NM_001009944.3(PKD1):c.1260C>G (p.Tyr420Ter)
|
rs2092661409
|
|
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)
|
rs1567216536
|
|
NM_001009944.3(PKD1):c.12624T>A (p.Cys4208Ter)
|
|
|
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=)
|
rs7203729
|
|
NM_001009944.3(PKD1):c.12633del (p.Glu4211fs)
|
rs2091400232
|
|
NM_001009944.3(PKD1):c.12648A>C (p.Gln4216His)
|
|
|
NM_001009944.3(PKD1):c.12651C>T (p.Ala4217=)
|
|
|
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del)
|
rs1596588396
|
|
NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del)
|
rs1596471581
|
|
NM_001009944.3(PKD1):c.12679G>C (p.Asp4227His)
|
|
|
NM_001009944.3(PKD1):c.12679G>T (p.Asp4227Tyr)
|
|
|
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)
|
rs199476095
|
|
NM_001009944.3(PKD1):c.12682dup (p.Arg4228fs)
|
|
|
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro)
|
rs1064797205
|
|
NM_001009944.3(PKD1):c.12683G>T (p.Arg4228Leu)
|
|
|
NM_001009944.3(PKD1):c.12690C>T (p.Asn4230=)
|
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12692A>G (p.Gln4231Arg)
|
|
|
NM_001009944.3(PKD1):c.12699A>G (p.Thr4233=)
|
|
|
NM_001009944.3(PKD1):c.12701_12702del (p.Glu4234fs)
|
rs1596471547
|
|
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.12718G>T (p.Glu4240Ter)
|
rs1567143705
|
|
NM_001009944.3(PKD1):c.12720G>C (p.Glu4240Asp)
|
|
|
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)
|
rs1181168635
|
|
NM_001009944.3(PKD1):c.12758G>A (p.Arg4253Gln)
|
|
|
NM_001009944.3(PKD1):c.12825C>T (p.Ala4275=)
|
|
|
NM_001009944.3(PKD1):c.12836G>A (p.Arg4279Gln)
|
|
|
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu)
|
rs1567216472
|
|
NM_001009944.3(PKD1):c.12873_12874del (p.Leu4292fs)
|
|
|
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)
|
rs777990224
|
|
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)
|
rs1060499699
|
|
NM_001009944.3(PKD1):c.1297C>T (p.Gln433Ter)
|
|
|
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs)
|
rs1555458891
|
|
NM_001009944.3(PKD1):c.1311G>A (p.Gln437=)
|
|
|
NM_001009944.3(PKD1):c.1325C>T (p.Ala442Val)
|
rs1596588261
|
|
NM_001009944.3(PKD1):c.1361G>C (p.Arg454Pro)
|
|
|
NM_001009944.3(PKD1):c.1363T>A (p.Phe455Ile)
|
rs2151822302
|
|
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly)
|
rs1555458865
|
|
NM_001009944.3(PKD1):c.1386-2A>G
|
|
|
NM_001009944.3(PKD1):c.138C>T (p.Ala46=)
|
|
|
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)
|
rs2855341
|
|
NM_001009944.3(PKD1):c.1400_1410del (p.Trp467fs)
|
rs1567215697
|
|
NM_001009944.3(PKD1):c.1420C>T (p.Gln474Ter)
|
rs1567215646
|
|
NM_001009944.3(PKD1):c.1426G>A (p.Val476Met)
|
|
|
NM_001009944.3(PKD1):c.1426del (p.Val476fs)
|
|
|
NM_001009944.3(PKD1):c.1439del (p.Pro480fs)
|
rs1567215590
|
|
NM_001009944.3(PKD1):c.1453G>A (p.Glu485Lys)
|
|
|
NM_001009944.3(PKD1):c.151T>C (p.Cys51Arg)
|
|
|
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.1538_1539delinsG (p.Pro513fs)
|
|
|
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)
|
rs1555458704
|
|
NM_001009944.3(PKD1):c.1555A>C (p.Thr519Pro)
|
|
|
NM_001009944.3(PKD1):c.155C>A (p.Ser52Ter)
|
|
|
NM_001009944.3(PKD1):c.155C>G (p.Ser52Trp)
|
rs2092940490
|
|
NM_001009944.3(PKD1):c.1572G>A (p.Ala524=)
|
|
|
NM_001009944.3(PKD1):c.158G>C (p.Gly53Ala)
|
|
|
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys)
|
rs1567215326
|
|
NM_001009944.3(PKD1):c.1606+18C>T
|
rs2151820473
|
|
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His)
|
rs1382845038
|
|
NM_001009944.3(PKD1):c.1634T>A (p.Leu545His)
|
|
|
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)
|
rs1555462438
|
|
NM_001009944.3(PKD1):c.1676C>T (p.Pro559Leu)
|
|
|
NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg)
|
rs1185676416
|
|
NM_001009944.3(PKD1):c.1687C>T (p.Gln563Ter)
|
rs1064794207
|
|
NM_001009944.3(PKD1):c.1710C>A (p.His570Gln)
|
|
|
NM_001009944.3(PKD1):c.1722+1G>A
|
rs1567214706
|
|
NM_001009944.3(PKD1):c.1722+2T>C
|
rs886041836
|
|
NM_001009944.3(PKD1):c.1723-1G>A
|
rs1596582948
|
|
NM_001009944.3(PKD1):c.1723-2A>G
|
rs1567214052
|
|
NM_001009944.3(PKD1):c.1744C>T (p.Arg582Cys)
|
|
|
NM_001009944.3(PKD1):c.1745G>A (p.Arg582His)
|
|
|
NM_001009944.3(PKD1):c.1758A>C (p.Glu586Asp)
|
|
|
NM_001009944.3(PKD1):c.1760C>T (p.Ala587Val)
|
rs2151818122
|
|
NM_001009944.3(PKD1):c.1772del (p.Thr591fs)
|
rs1567213901
|
|
NM_001009944.3(PKD1):c.177C>G (p.Leu59=)
|
|
|
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)
|
rs1596582702
|
|
NM_001009944.3(PKD1):c.1814T>G (p.Leu605Arg)
|
|
|
NM_001009944.3(PKD1):c.1823A>G (p.Gln608Arg)
|
rs1596582588
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
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.1903dup (p.Gln635fs)
|
rs1567213083
|
|
NM_001009944.3(PKD1):c.1912C>T (p.Pro638Ser)
|
|
|
NM_001009944.3(PKD1):c.1971C>T (p.Asp657=)
|
|
|
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
|
|
|
NM_001009944.3(PKD1):c.1987del (p.Gln663fs)
|
rs1238458888
|
|
NM_001009944.3(PKD1):c.19G>A (p.Ala7Thr)
|
|
|
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.2017C>G (p.Pro673Ala)
|
|
|
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup)
|
rs1567212718
|
|
NM_001009944.3(PKD1):c.2032G>A (p.Ala678Thr)
|
|
|
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs)
|
rs1448641464
|
|
NM_001009944.3(PKD1):c.2050A>T (p.Arg684Ter)
|
|
|
NM_001009944.3(PKD1):c.2059_2061del (p.Leu687del)
|
|
|
NM_001009944.3(PKD1):c.206C>T (p.Ala69Val)
|
rs2151858171
|
|
NM_001009944.3(PKD1):c.2079del (p.Ala696fs)
|
|
|
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2086G>A (p.Ala696Thr)
|
|
|
NM_001009944.3(PKD1):c.2096C>A (p.Ser699Ter)
|
rs774476595
|
|
NM_001009944.3(PKD1):c.2098-1G>C
|
rs1567211807
|
|
NM_001009944.3(PKD1):c.2102C>T (p.Thr701Ile)
|
|
|
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln)
|
rs527655141
|
|
NM_001009944.3(PKD1):c.2110G>A (p.Gly704Ser)
|
|
|
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter)
|
rs2092604224
|
|
NM_001009944.3(PKD1):c.2143G>T (p.Val715Phe)
|
|
|
NM_001009944.3(PKD1):c.215+1G>C
|
rs1555462433
|
|
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.2152C>A (p.Gln718Lys)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.2155C>T (p.His719Tyr)
|
|
|
NM_001009944.3(PKD1):c.216-4590G>A
|
|
|
NM_001009944.3(PKD1):c.216-4611C>T
|
|
|
NM_001009944.3(PKD1):c.2161G>A (p.Ala721Thr)
|
rs1085307516
|
|
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.2222C>T (p.Pro741Leu)
|
|
|
NM_001009944.3(PKD1):c.2244G>C (p.Ser748=)
|
|
|
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter)
|
rs775710328
|
|
NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs)
|
rs2092600667
|
|
NM_001009944.3(PKD1):c.2298_2308del (p.Cys767fs)
|
rs1567211181
|
|
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser)
|
rs2092686792
|
|
NM_001009944.3(PKD1):c.2391G>A (p.Glu797=)
|
|
|
NM_001009944.3(PKD1):c.2439C>A (p.Cys813Ter)
|
rs746720158
|
|
NM_001009944.3(PKD1):c.2444T>C (p.Phe815Ser)
|
rs1596576453
|
|
NM_001009944.3(PKD1):c.2494del (p.Arg832fs)
|
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.250G>A (p.Val84Ile)
|
|
|
NM_001009944.3(PKD1):c.2514G>A (p.Val838=)
|
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.2548_2557del (p.Asp850fs)
|
rs1596575921
|
|
NM_001009944.3(PKD1):c.2581T>A (p.Trp861Arg)
|
|
|
NM_001009944.3(PKD1):c.2606G>C (p.Arg869Pro)
|
|
|
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs)
|
rs1596575646
|
|
NM_001009944.3(PKD1):c.2622C>A (p.Cys874Ter)
|
|
|
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs)
|
rs1567210080
|
|
NM_001009944.3(PKD1):c.2684C>A (p.Ser895Ter)
|
|
|
NM_001009944.3(PKD1):c.2720A>C (p.His907Pro)
|
|
|
NM_001009944.3(PKD1):c.2732T>G (p.Val911Gly)
|
rs1596575196
|
|
NM_001009944.3(PKD1):c.275del (p.Ala92fs)
|
rs1567219735
|
|
NM_001009944.3(PKD1):c.2780CGG[1] (p.Ala928del)
|
rs1596574952
|
|
NM_001009944.3(PKD1):c.2781_2782insAG (p.Ala928fs)
|
rs1596574987
|
|
NM_001009944.3(PKD1):c.2804_2829del (p.Leu935fs)
|
rs1567209616
|
|
NM_001009944.3(PKD1):c.2829C>G (p.Ala943=)
|
|
|
NM_001009944.3(PKD1):c.2853+1G>A
|
rs2151812559
|
|
NM_001009944.3(PKD1):c.2854-2A>G
|
rs1555457488
|
|
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp)
|
rs1305213807
|
|
NM_001009944.3(PKD1):c.2867dup (p.Val957fs)
|
rs1567208136
|
|
NM_001009944.3(PKD1):c.287+4A>C
|
|
|
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)
|
rs1567208088
|
|
NM_001009944.3(PKD1):c.288-11G>C
|
rs750270591
|
|
NM_001009944.3(PKD1):c.2885A>G (p.Asp962Gly)
|
rs1567208045
|
|
NM_001009944.3(PKD1):c.2911G>A (p.Asp971Asn)
|
|
|
NM_001009944.3(PKD1):c.2966_2967insCC (p.Ala990fs)
|
rs1567207841
|
|
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=)
|
rs1324429294
|
|
NM_001009944.3(PKD1):c.2968_2969delinsCT (p.Ala990Leu)
|
|
|
NM_001009944.3(PKD1):c.296G>T (p.Ser99Ile)
|
rs1567219544
|
|
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del)
|
|
|
NM_001009944.3(PKD1):c.29_46del (p.Ala10_Leu15del)
|
|
|
NM_001009944.3(PKD1):c.3007A>G (p.Ser1003Gly)
|
|
|
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del)
|
rs1567207029
|
|
NM_001009944.3(PKD1):c.3031G>A (p.Val1011Ile)
|
|
|
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys)
|
rs2092684130
|
|
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter)
|
rs753261451
|
|
NM_001009944.3(PKD1):c.305_307del (p.Lys102del)
|
rs1567219527
|
|
NM_001009944.3(PKD1):c.3069G>C (p.Gln1023His)
|
rs568163462
|
|
NM_001009944.3(PKD1):c.3092T>C (p.Leu1031Pro)
|
|
|
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.3107C>T (p.Thr1036Met)
|
|
|
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)
|
rs2151806438
|
|
NM_001009944.3(PKD1):c.3122C>A (p.Ala1041Glu)
|
rs777881528
|
|
NM_001009944.3(PKD1):c.3128del (p.Val1043fs)
|
rs1567206632
|
|
NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del)
|
rs1567206560
|
|
NM_001009944.3(PKD1):c.3161+5_3161+8del
|
|
|
NM_001009944.3(PKD1):c.3171_3172del (p.Phe1057fs)
|
rs2151804597
|
|
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.3239C>A (p.Pro1080His)
|
|
|
NM_001009944.3(PKD1):c.3239C>T (p.Pro1080Leu)
|
|
|
NM_001009944.3(PKD1):c.3247_3253del (p.Ala1083fs)
|
rs1567205637
|
|
NM_001009944.3(PKD1):c.3275_3276delinsCC (p.Met1092Thr)
|
rs2151804169
|
|
NM_001009944.3(PKD1):c.3294_3295delinsTT (p.Gly1099Cys)
|
rs2092536146
|
|
NM_001009944.3(PKD1):c.3295+1G>C
|
|
|
NM_001009944.3(PKD1):c.3296-1G>C
|
rs1567204631
|
|
NM_001009944.3(PKD1):c.3296-4_3304del
|
|
|
NM_001009944.3(PKD1):c.3347A>T (p.Gln1116Leu)
|
|
|
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)
|
rs755084885
|
|
NM_001009944.3(PKD1):c.335C>G (p.Ala112Gly)
|
|
|
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs)
|
rs1567204146
|
|
NM_001009944.3(PKD1):c.3425_3428dup (p.Val1144fs)
|
|
|
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)
|
rs1320867301
|
|
NM_001009944.3(PKD1):c.3441C>G (p.Tyr1147Ter)
|
rs762887911
|
|
NM_001009944.3(PKD1):c.3467G>C (p.Gly1156Ala)
|
|
|
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys)
|
rs1483748105
|
|
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)
|
rs2092683596
|
|
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)
|
rs2151801188
|
|
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser)
|
rs146887330
|
|
NM_001009944.3(PKD1):c.3518G>A (p.Ser1173Asn)
|
|
|
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)
|
rs1057518899
|
|
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys)
|
rs1458516705
|
|
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter)
|
rs1057516206
|
|
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu)
|
rs551162125
|
|
NM_001009944.3(PKD1):c.3549G>T (p.Ser1183=)
|
|
|
NM_001009944.3(PKD1):c.3560A>C (p.Tyr1187Ser)
|
|
|
NM_001009944.3(PKD1):c.3561C>G (p.Tyr1187Ter)
|
rs2151800871
|
|
NM_001009944.3(PKD1):c.3564C>T (p.His1188=)
|
rs1047922967
|
|
NM_001009944.3(PKD1):c.3568C>T (p.Arg1190Cys)
|
|
|
NM_001009944.3(PKD1):c.3569G>A (p.Arg1190His)
|
rs140152387
|
|
NM_001009944.3(PKD1):c.3595G>A (p.Gly1199Ser)
|
|
|
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)
|
rs1555459345
|
|
NM_001009944.3(PKD1):c.360-7C>G
|
|
|
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs)
|
rs778028967
|
|
NM_001009944.3(PKD1):c.3618G>A (p.Val1206=)
|
|
|
NM_001009944.3(PKD1):c.3631G>T (p.Glu1211Ter)
|
rs2092505450
|
|
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
|
rs139100448
|
|
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met)
|
rs749092859
|
|
NM_001009944.3(PKD1):c.3685G>A (p.Val1229Met)
|
|
|
NM_001009944.3(PKD1):c.3691G>A (p.Val1231Ile)
|
|
|
NM_001009944.3(PKD1):c.3701C>T (p.Ala1234Val)
|
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
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.3743_3745del (p.Gly1248del)
|
|
|
NM_001009944.3(PKD1):c.3745del (p.Asp1249fs)
|
rs2092501574
|
|
NM_001009944.3(PKD1):c.3746del (p.Asp1249fs)
|
rs2092501540
|
|
NM_001009944.3(PKD1):c.3749G>A (p.Gly1250Asp)
|
rs1567202673
|
|
NM_001009944.3(PKD1):c.3761C>T (p.Ser1254Leu)
|
|
|
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg)
|
rs1057518976
|
|
NM_001009944.3(PKD1):c.3836C>G (p.Pro1279Arg)
|
rs1596561655
|
|
NM_001009944.3(PKD1):c.384del (p.Glu128fs)
|
rs1567219155
|
|
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro)
|
|
|
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter)
|
rs780119305
|
|
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro)
|
rs2092941758
|
|
NM_001009944.3(PKD1):c.3904G>A (p.Ala1302Thr)
|
rs139993510
|
|
NM_001009944.3(PKD1):c.3925C>G (p.Pro1309Ala)
|
|
|
NM_001009944.3(PKD1):c.3931G>A (p.Ala1311Thr)
|
rs146169133
|
|
NM_001009944.3(PKD1):c.3932del (p.Ala1311fs)
|
rs1567201999
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.3961C>T (p.Pro1321Ser)
|
rs772389436
|
|
NM_001009944.3(PKD1):c.3978C>T (p.Phe1326=)
|
|
|
NM_001009944.3(PKD1):c.3981C>G (p.Asp1327Glu)
|
|
|
NM_001009944.3(PKD1):c.3G>A (p.Met1Ile)
|
rs1567233098
|
|
NM_001009944.3(PKD1):c.402G>T (p.Ala134=)
|
|
|
NM_001009944.3(PKD1):c.4047C>T (p.Phe1349=)
|
rs770459654
|
|
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys)
|
rs2092679535
|
|
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.4073C>T (p.Ala1358Val)
|
|
|
NM_001009944.3(PKD1):c.4091G>A (p.Arg1364His)
|
|
|
NM_001009944.3(PKD1):c.4104G>C (p.Ala1368=)
|
|
|
NM_001009944.3(PKD1):c.4109_4120delinsG (p.Tyr1370fs)
|
|
|
NM_001009944.3(PKD1):c.4110_4113del (p.His1369_Tyr1370insTer)
|
rs1567201338
|
|
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.4136A>G (p.Glu1379Gly)
|
rs149210297
|
|
NM_001009944.3(PKD1):c.4141G>A (p.Gly1381Ser)
|
|
|
NM_001009944.3(PKD1):c.4148T>A (p.Val1383Asp)
|
rs1567201202
|
|
NM_001009944.3(PKD1):c.4151C>T (p.Thr1384Ile)
|
|
|
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs)
|
rs1555456208
|
|
NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter)
|
|
|
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter)
|
rs1567201083
|
|
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val)
|
rs1413875287
|
|
NM_001009944.3(PKD1):c.4235A>C (p.Tyr1412Ser)
|
|
|
NM_001009944.3(PKD1):c.4242G>A (p.Trp1414Ter)
|
|
|
NM_001009944.3(PKD1):c.4276G>A (p.Ala1426Thr)
|
|
|
NM_001009944.3(PKD1):c.4295C>T (p.Thr1432Met)
|
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4315G>T (p.Gly1439Cys)
|
|
|
NM_001009944.3(PKD1):c.4319_4321del (p.Ser1440del)
|
rs1567200450
|
|
NM_001009944.3(PKD1):c.4340C>A (p.Ala1447Glu)
|
rs76981724
|
|
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
NM_001009944.3(PKD1):c.4373C>T (p.Ala1458Val)
|
rs2151797690
|
|
NM_001009944.3(PKD1):c.4379T>C (p.Val1460Ala)
|
|
|
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)
|
rs1567200117
|
|
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=)
|
rs201988915
|
|
NM_001009944.3(PKD1):c.445C>T (p.Gln149Ter)
|
|
|
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.4475G>C (p.Arg1492Pro)
|
rs757055929
|
|
NM_001009944.3(PKD1):c.4486G>A (p.Ala1496Thr)
|
|
|
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg)
|
rs2092478372
|
|
NM_001009944.3(PKD1):c.4510G>A (p.Asp1504Asn)
|
|
|
NM_001009944.3(PKD1):c.4510del (p.Asp1504fs)
|
|
|
NM_001009944.3(PKD1):c.4515_4517del (p.Gly1506del)
|
|
|
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)
|
rs144200494
|
|
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.4592A>G (p.Asn1531Ser)
|
rs2092476327
|
|
NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter)
|
rs1596558405
|
|
NM_001009944.3(PKD1):c.4641C>T (p.Arg1547=)
|
|
|
NM_001009944.3(PKD1):c.4646G>C (p.Arg1549Pro)
|
|
|
NM_001009944.3(PKD1):c.4654GTC[1] (p.Val1553del)
|
rs1362745259
|
|
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=)
|
rs114489044
|
|
NM_001009944.3(PKD1):c.4729G>A (p.Asp1577Asn)
|
rs770989260
|
|
NM_001009944.3(PKD1):c.4756G>A (p.Asp1586Asn)
|
rs770968964
|
|
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter)
|
rs202110519
|
|
NM_001009944.3(PKD1):c.4808C>T (p.Ser1603Phe)
|
|
|
NM_001009944.3(PKD1):c.4823A>G (p.Asn1608Ser)
|
|
|
NM_001009944.3(PKD1):c.4824_4826dup (p.Ile1610dup)
|
rs2151796171
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.4843A>G (p.Asn1615Asp)
|
rs2151796056
|
|
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter)
|
rs566014072
|
|
NM_001009944.3(PKD1):c.4857del (p.Ala1620fs)
|
|
|
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)
|
rs1264176877
|
|
NM_001009944.3(PKD1):c.4894_4901dup (p.Gly1634_Leu1635insTer)
|
rs1567198410
|
|
NM_001009944.3(PKD1):c.4898del (p.Glu1633fs)
|
|
|
NM_001009944.3(PKD1):c.4910T>G (p.Val1637Gly)
|
rs1200234003
|
|
NM_001009944.3(PKD1):c.4918G>A (p.Gly1640Ser)
|
|
|
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)
|
rs1596557065
|
|
NM_001009944.3(PKD1):c.4963G>A (p.Val1655Met)
|
rs149671582
|
|
NM_001009944.3(PKD1):c.4968T>C (p.Val1656=)
|
rs777909326
|
|
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile)
|
rs766683298
|
|
NM_001009944.3(PKD1):c.4985T>A (p.Val1662Asp)
|
|
|
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)
|
rs1596556896
|
|
NM_001009944.3(PKD1):c.4997G>C (p.Trp1666Ser)
|
|
|
NM_001009944.3(PKD1):c.5005T>G (p.Trp1669Gly)
|
|
|
NM_001009944.3(PKD1):c.5006G>A (p.Trp1669Ter)
|
|
|
NM_001009944.3(PKD1):c.5008A>G (p.Arg1670Gly)
|
|
|
NM_001009944.3(PKD1):c.5018del (p.Gly1673fs)
|
rs1596556800
|
|
NM_001009944.3(PKD1):c.5028G>A (p.Leu1676=)
|
rs2092461515
|
|
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.5092C>T (p.Arg1698Trp)
|
rs141871028
|
|
NM_001009944.3(PKD1):c.510C>T (p.Pro170=)
|
rs1052336192
|
|
NM_001009944.3(PKD1):c.5159G>A (p.Trp1720Ter)
|
rs2151794620
|
|
NM_001009944.3(PKD1):c.5210C>T (p.Thr1737Ile)
|
|
|
NM_001009944.3(PKD1):c.5212C>G (p.Leu1738Val)
|
rs960035220
|
|
NM_001009944.3(PKD1):c.5230G>T (p.Gly1744Cys)
|
|
|
NM_001009944.3(PKD1):c.5244_5246del (p.Val1749del)
|
|
|
NM_001009944.3(PKD1):c.5245G>A (p.Val1749Ile)
|
|
|
NM_001009944.3(PKD1):c.5245del (p.Val1749fs)
|
rs1555455279
|
|
NM_001009944.3(PKD1):c.5259C>G (p.Ser1753=)
|
|
|
NM_001009944.3(PKD1):c.5279G>A (p.Trp1760Ter)
|
rs1596555896
|
|
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu)
|
rs577487876
|
|
NM_001009944.3(PKD1):c.530-6T>C
|
|
|
NM_001009944.3(PKD1):c.5329C>T (p.His1777Tyr)
|
|
|
NM_001009944.3(PKD1):c.5332_5333delinsACCCGGCCCCACACCCGGCC (p.Leu1778delinsThrArgProHisThrArgPro)
|
|
|
NM_001009944.3(PKD1):c.5366C>A (p.Ser1789Ter)
|
|
|
NM_001009944.3(PKD1):c.5372A>C (p.Asn1791Thr)
|
rs1335408319
|
|
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter)
|
rs2092452489
|
|
NM_001009944.3(PKD1):c.539A>G (p.Tyr180Cys)
|
|
|
NM_001009944.3(PKD1):c.5411del (p.Gly1804fs)
|
rs1596555413
|
|
NM_001009944.3(PKD1):c.5413del (p.Leu1805fs)
|
rs2092452089
|
|
NM_001009944.3(PKD1):c.5458G>A (p.Gly1820Arg)
|
|
|
NM_001009944.3(PKD1):c.545C>A (p.Ala182Asp)
|
|
|
NM_001009944.3(PKD1):c.5481dup (p.Gln1828fs)
|
rs1596555170
|
|
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs)
|
rs1567196314
|
|
NM_001009944.3(PKD1):c.5557A>G (p.Thr1853Ala)
|
rs1064797206
|
|
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.55C>T (p.Leu19Phe)
|
rs2151858362
|
|
NM_001009944.3(PKD1):c.5602G>C (p.Ala1868Pro)
|
rs753398195
|
|
NM_001009944.3(PKD1):c.5608A>G (p.Asn1870Asp)
|
|
|
NM_001009944.3(PKD1):c.5622G>A (p.Trp1874Ter)
|
rs2151792322
|
|
NM_001009944.3(PKD1):c.5637C>G (p.Tyr1879Ter)
|
|
|
NM_001009944.3(PKD1):c.5644_5646del (p.Thr1882del)
|
|
|
NM_001009944.3(PKD1):c.5657C>T (p.Pro1886Leu)
|
rs80360487
|
|
NM_001009944.3(PKD1):c.5668C>A (p.Leu1890Met)
|
|
|
NM_001009944.3(PKD1):c.5678G>A (p.Trp1893Ter)
|
rs2092446562
|
|
NM_001009944.3(PKD1):c.5688C>G (p.Ser1896Arg)
|
|
|
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter)
|
rs942694907
|
|
NM_001009944.3(PKD1):c.573C>T (p.Thr191=)
|
|
|
NM_001009944.3(PKD1):c.5756del (p.Phe1919fs)
|
|
|
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs)
|
rs2092443264
|
|
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs)
|
rs1567195285
|
|
NM_001009944.3(PKD1):c.5824dup (p.Arg1942fs)
|
|
|
NM_001009944.3(PKD1):c.5836C>A (p.His1946Asn)
|
rs80360489
|
|
NM_001009944.3(PKD1):c.5855G>A (p.Gly1952Asp)
|
rs2092441433
|
|
NM_001009944.3(PKD1):c.5877_5882del (p.1959AQ[1])
|
|
|
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)
|
rs1567195059
|
|
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val)
|
rs375440448
|
|
NM_001009944.3(PKD1):c.5884C>T (p.Gln1962Ter)
|
rs1337022607
|
|
NM_001009944.3(PKD1):c.5887del (p.Val1963fs)
|
rs2092440563
|
|
NM_001009944.3(PKD1):c.5896G>A (p.Val1966Met)
|
rs779086418
|
|
NM_001009944.3(PKD1):c.5912dup (p.Ser1972fs)
|
rs2151790839
|
|
NM_001009944.3(PKD1):c.5913G>A (p.Val1971=)
|
|
|
NM_001009944.3(PKD1):c.5913delinsACC (p.Ser1972fs)
|
rs1567194928
|
|
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)
|
rs2092439541
|
|
NM_001009944.3(PKD1):c.5933A>G (p.Asn1978Ser)
|
|
|
NM_001009944.3(PKD1):c.5937C>A (p.Cys1979Ter)
|
rs754333013
|
|
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)
|
rs2092438025
|
|
NM_001009944.3(PKD1):c.5984G>A (p.Arg1995His)
|
|
|
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro)
|
rs752388015
|
|
NM_001009944.3(PKD1):c.5989C>T (p.Gln1997Ter)
|
|
|
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser)
|
rs2092437527
|
|
NM_001009944.3(PKD1):c.5999C>G (p.Ser2000Cys)
|
rs1596553232
|
|
NM_001009944.3(PKD1):c.6011_6016dup (p.Tyr2004_Ala2005dup)
|
rs2092436949
|
|
NM_001009944.3(PKD1):c.6025T>C (p.Ser2009Pro)
|
rs2092436796
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.6062T>C (p.Leu2021Pro)
|
rs2092435927
|
|
NM_001009944.3(PKD1):c.6070C>T (p.Arg2024Cys)
|
|
|
NM_001009944.3(PKD1):c.6084C>A (p.Tyr2028Ter)
|
rs757173009
|
|
NM_001009944.3(PKD1):c.6100G>A (p.Gly2034Arg)
|
rs2151789912
|
|
NM_001009944.3(PKD1):c.6101G>T (p.Gly2034Val)
|
|
|
NM_001009944.3(PKD1):c.6123C>T (p.Arg2041=)
|
|
|
NM_001009944.3(PKD1):c.6130A>G (p.Asn2044Asp)
|
|
|
NM_001009944.3(PKD1):c.6184C>T (p.Gln2062Ter)
|
rs750843149
|
|
NM_001009944.3(PKD1):c.6193del (p.Ala2065fs)
|
rs1555454620
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6204C>T (p.Ser2068=)
|
|
|
NM_001009944.3(PKD1):c.6229G>C (p.Ala2077Pro)
|
rs1322095511
|
|
NM_001009944.3(PKD1):c.6277C>A (p.His2093Asn)
|
|
|
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser)
|
rs1596552090
|
|
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly)
|
rs2151788839
|
|
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter)
|
rs1555454512
|
|
NM_001009944.3(PKD1):c.6330C>T (p.Ala2110=)
|
|
|
NM_001009944.3(PKD1):c.6382A>T (p.Asn2128Tyr)
|
rs2151788281
|
|
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)
|
rs1555454460
|
|
NM_001009944.3(PKD1):c.6398dup (p.Val2134fs)
|
rs1555454467
|
|
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter)
|
rs2092425533
|
|
NM_001009944.3(PKD1):c.6422T>A (p.Val2141Asp)
|
|
|
NM_001009944.3(PKD1):c.6457G>A (p.Val2153Met)
|
|
|
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter)
|
rs2092423837
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6491C>G (p.Ser2164Ter)
|
|
|
NM_001009944.3(PKD1):c.6498C>T (p.Arg2166=)
|
|
|
NM_001009944.3(PKD1):c.6506T>C (p.Leu2169Ser)
|
rs2151787641
|
|
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs)
|
rs1567192623
|
|
NM_001009944.3(PKD1):c.6532T>C (p.Cys2178Arg)
|
|
|
NM_001009944.3(PKD1):c.6545_6603delinsGCTCG (p.Gln2182_Pro2201delinsArgSer)
|
|
|
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)
|
rs1555454373
|
|
NM_001009944.3(PKD1):c.6557G>T (p.Arg2186Leu)
|
rs1046305889
|
|
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs)
|
rs2092420672
|
|
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)
|
rs1555454353
|
|
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter)
|
rs1567192286
|
|
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs)
|
rs1567192229
|
|
NM_001009944.3(PKD1):c.6599G>A (p.Arg2200His)
|
|
|
NM_001009944.3(PKD1):c.6602C>T (p.Pro2201Leu)
|
|
|
NM_001009944.3(PKD1):c.6603A>G (p.Pro2201=)
|
|
|
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=)
|
rs575553075
|
|
NM_001009944.3(PKD1):c.6622G>C (p.Gly2208Arg)
|
rs779825346
|
|
NM_001009944.3(PKD1):c.6624C>T (p.Gly2208=)
|
|
|
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)
|
rs1567218310
|
|
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)
|
rs1567191874
|
|
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)
|
rs2151786683
|
|
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu)
|
rs1567218284
|
|
NM_001009944.3(PKD1):c.667G>C (p.Ala223Pro)
|
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
NM_001009944.3(PKD1):c.6692T>G (p.Val2231Gly)
|
|
|
NM_001009944.3(PKD1):c.6695T>C (p.Phe2232Ser)
|
rs2151786592
|
|
NM_001009944.3(PKD1):c.6715_6716del (p.Thr2239fs)
|
rs2151786492
|
|
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.6730_6731del (p.Ser2244fs)
|
rs2151786400
|
|
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)
|
rs1567191534
|
|
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
|
rs1596550396
|
|
NM_001009944.3(PKD1):c.6759_6760delinsT (p.Glu2254fs)
|
|
|
NM_001009944.3(PKD1):c.6759del (p.Glu2254fs)
|
|
|
NM_001009944.3(PKD1):c.6778A>T (p.Ile2260Phe)
|
|
|
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del)
|
|
|
NM_001009944.3(PKD1):c.6784G>C (p.Gly2262Arg)
|
rs1567191274
|
|
NM_001009944.3(PKD1):c.6798C>T (p.Arg2266=)
|
|
|
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)
|
rs1567191179
|
|
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro)
|
rs1567191044
|
|
NM_001009944.3(PKD1):c.6868G>T (p.Asp2290Tyr)
|
rs550509675
|
|
NM_001009944.3(PKD1):c.6889C>T (p.His2297Tyr)
|
|
|
NM_001009944.3(PKD1):c.689G>C (p.Cys230Ser)
|
rs1255640370
|
|
NM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter)
|
rs1064793762
|
|
NM_001009944.3(PKD1):c.6916-9G>A
|
rs1567190244
|
|
NM_001009944.3(PKD1):c.6970dup (p.Thr2324fs)
|
rs2092402238
|
|
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.7007A>G (p.Tyr2336Cys)
|
rs2151783812
|
|
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter)
|
rs2092401442
|
|
NM_001009944.3(PKD1):c.701C>T (p.Ala234Val)
|
|
|
NM_001009944.3(PKD1):c.7025T>G (p.Val2342Gly)
|
rs2151783732
|
|
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs)
|
rs1596548114
|
|
NM_001009944.3(PKD1):c.7049A>C (p.Glu2350Ala)
|
|
|
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.7065+5G>C
|
|
|
NM_001009944.3(PKD1):c.7094T>C (p.Ile2365Thr)
|
|
|
NM_001009944.3(PKD1):c.7097T>A (p.Val2366Glu)
|
|
|
NM_001009944.3(PKD1):c.7101C>T (p.Ser2367=)
|
|
|
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)
|
rs1567187445
|
|
NM_001009944.3(PKD1):c.7109G>C (p.Cys2370Ser)
|
rs1567187434
|
|
NM_001009944.3(PKD1):c.7113_7114del (p.Ser2372fs)
|
rs1567187389
|
|
NM_001009944.3(PKD1):c.7117T>G (p.Cys2373Gly)
|
|
|
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.7141G>A (p.Val2381Met)
|
rs2092356831
|
|
NM_001009944.3(PKD1):c.7146C>G (p.Ser2382Arg)
|
|
|
NM_001009944.3(PKD1):c.7164C>G (p.Tyr2388Ter)
|
rs1555453372
|
|
NM_001009944.3(PKD1):c.7170G>A (p.Glu2390=)
|
rs1567187083
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
NM_001009944.3(PKD1):c.7207G>A (p.Gly2403Arg)
|
|
|
NM_001009944.3(PKD1):c.7209+1G>C
|
|
|
NM_001009944.3(PKD1):c.7209+5G>A
|
rs1596543034
|
|
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met)
|
rs1446061270
|
|
NM_001009944.3(PKD1):c.7237_7238del (p.Lys2413fs)
|
|
|
NM_001009944.3(PKD1):c.723_725del (p.Phe242del)
|
|
|
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe)
|
rs1555453207
|
|
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)
|
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.7300C>T (p.Arg2434Trp)
|
rs151257298
|
|
NM_001009944.3(PKD1):c.7301G>A (p.Arg2434Gln)
|
|
|
NM_001009944.3(PKD1):c.7319A>G (p.Asp2440Gly)
|
|
|
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)
|
rs1567186165
|
|
NM_001009944.3(PKD1):c.7336_7338del (p.Phe2446del)
|
rs1567186120
|
|
NM_001009944.3(PKD1):c.7345dup (p.Thr2449fs)
|
rs2151774462
|
|
NM_001009944.3(PKD1):c.7365C>T (p.Gly2455=)
|
|
|
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del)
|
rs1391744174
|
|
NM_001009944.3(PKD1):c.7404C>G (p.Asn2468Lys)
|
rs1320087186
|
|
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu)
|
rs539143745
|
|
NM_001009944.3(PKD1):c.7411C>T (p.Pro2471Ser)
|
rs2151774021
|
|
NM_001009944.3(PKD1):c.741_742dup (p.Cys248fs)
|
rs1567218104
|
|
NM_001009944.3(PKD1):c.7437C>T (p.Phe2479=)
|
|
|
NM_001009944.3(PKD1):c.744C>A (p.Cys248Ter)
|
rs762278346
|
|
NM_001009944.3(PKD1):c.7463C>T (p.Thr2488Ile)
|
|
|
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.7489+1G>A
|
|
|
NM_001009944.3(PKD1):c.7489+5G>A
|
rs2092337963
|
|
NM_001009944.3(PKD1):c.7490-2A>T
|
rs1567185163
|
|
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.7516G>A (p.Ala2506Thr)
|
|
|
NM_001009944.3(PKD1):c.7525_7539dup (p.Val2509_Leu2513dup)
|
rs2092331813
|
|
NM_001009944.3(PKD1):c.7544G>C (p.Arg2515Pro)
|
rs2432404
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His)
|
rs781066020
|
|
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter)
|
rs2151772321
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)
|
rs1555452876
|
|
NM_001009944.3(PKD1):c.7587G>C (p.Lys2529Asn)
|
rs139652960
|
|
NM_001009944.3(PKD1):c.7615del (p.Leu2539fs)
|
|
|
NM_001009944.3(PKD1):c.7616T>G (p.Leu2539Arg)
|
rs2151771879
|
|
NM_001009944.3(PKD1):c.7625G>A (p.Gly2542Asp)
|
|
|
NM_001009944.3(PKD1):c.7634C>T (p.Pro2545Leu)
|
|
|
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.7655C>G (p.Ala2552Gly)
|
rs1596539967
|
|
NM_001009944.3(PKD1):c.7663G>A (p.Val2555Met)
|
rs2151771585
|
|
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter)
|
rs1567184366
|
|
NM_001009944.3(PKD1):c.7669G>T (p.Asp2557Tyr)
|
rs2151771553
|
|
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly)
|
rs2092327341
|
|
NM_001009944.3(PKD1):c.7703+24C>A
|
|
|
NM_001009944.3(PKD1):c.7704-2A>G
|
|
|
NM_001009944.3(PKD1):c.7704-2_7712del
|
rs1555452738
|
|
NM_001009944.3(PKD1):c.7743_7767dup (p.Gly2590fs)
|
rs2092322668
|
|
NM_001009944.3(PKD1):c.7746G>A (p.Thr2582=)
|
|
|
NM_001009944.3(PKD1):c.7751_7754del (p.Leu2584fs)
|
rs1567183784
|
|
NM_001009944.3(PKD1):c.7784_7785dup (p.Leu2596fs)
|
rs1567183633
|
|
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter)
|
rs2092321142
|
|
NM_001009944.3(PKD1):c.7825A>G (p.Ile2609Val)
|
|
|
NM_001009944.3(PKD1):c.7825_7827del (p.Ile2609del)
|
|
|
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter)
|
rs138871063
|
|
NM_001009944.3(PKD1):c.7856T>G (p.Leu2619Arg)
|
rs1596538804
|
|
NM_001009944.3(PKD1):c.7864-1G>A
|
|
|
NM_001009944.3(PKD1):c.788C>A (p.Thr263Asn)
|
|
|
NM_001009944.3(PKD1):c.789_843del (p.Leu264fs)
|
rs1596590005
|
|
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)
|
rs750913623
|
|
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter)
|
rs764840802
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.7948_7949del (p.Leu2650fs)
|
|
|
NM_001009944.3(PKD1):c.7949T>G (p.Leu2650Arg)
|
rs2092302943
|
|
NM_001009944.3(PKD1):c.7973_7974del (p.Val2658fs)
|
rs2092302256
|
|
NM_001009944.3(PKD1):c.7978G>A (p.Asp2660Asn)
|
|
|
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.8015T>G (p.Met2672Arg)
|
|
|
NM_001009944.3(PKD1):c.8016+2T>C
|
rs1596536505
|
|
NM_001009944.3(PKD1):c.8017-1G>C
|
rs2092263886
|
|
NM_001009944.3(PKD1):c.8017-1dup
|
rs1555452047
|
|
NM_001009944.3(PKD1):c.8017-2A>G
|
rs1567180640
|
|
NM_001009944.3(PKD1):c.8029G>A (p.Glu2677Lys)
|
|
|
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile)
|
rs1269793804
|
|
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter)
|
rs151308544
|
|
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter)
|
rs377029031
|
|
NM_001009944.3(PKD1):c.8087T>G (p.Leu2696Arg)
|
rs201238819
|
|
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter)
|
rs1222094213
|
|
NM_001009944.3(PKD1):c.8112_8132del (p.Gly2705_Ala2711del)
|
rs1596532130
|
|
NM_001009944.3(PKD1):c.8161+7C>T
|
rs371902103
|
|
NM_001009944.3(PKD1):c.8162-1G>A
|
rs1555451430
|
|
NM_001009944.3(PKD1):c.8173C>T (p.His2725Tyr)
|
|
|
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu)
|
rs141717814
|
|
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)
|
rs1555451368
|
|
NM_001009944.3(PKD1):c.8236C>T (p.Arg2746Trp)
|
|
|
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter)
|
rs2092205600
|
|
NM_001009944.3(PKD1):c.8279T>G (p.Met2760Arg)
|
rs879809222
|
|
NM_001009944.3(PKD1):c.8279_8334delinsCGCCCATCCTCACGCGCTCCCGCGTGCTCAACGAGGAGCCCCTGACGCTGGCGGGT (p.Met2760_Met2764delinsThrProIleLeuThr)
|
|
|
NM_001009944.3(PKD1):c.827C>T (p.Thr276Ile)
|
|
|
NM_001009944.3(PKD1):c.827_830del (p.Thr276fs)
|
rs2092670456
|
|
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.8288T>C (p.Leu2763Pro)
|
|
|
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)
|
rs1596527405
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
NM_001009944.3(PKD1):c.82C>A (p.Arg28Ser)
|
|
|
NM_001009944.3(PKD1):c.8300G>C (p.Arg2767Pro)
|
|
|
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu)
|
rs1456510041
|
|
NM_001009944.3(PKD1):c.8303T>A (p.Val2768Glu)
|
|
|
NM_001009944.3(PKD1):c.8305_8310dup (p.Asn2770_Glu2771insLeuAsn)
|
|
|
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs)
|
rs2092202856
|
|
NM_001009944.3(PKD1):c.8310C>T (p.Asn2770=)
|
|
|
NM_001009944.3(PKD1):c.8320_8321del (p.Leu2774fs)
|
|
|
NM_001009944.3(PKD1):c.8324C>T (p.Thr2775Met)
|
|
|
NM_001009944.3(PKD1):c.8333del (p.Gly2778fs)
|
rs1567178000
|
|
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs)
|
rs1567178000
|
|
NM_001009944.3(PKD1):c.8334C>T (p.Gly2778=)
|
|
|
NM_001009944.3(PKD1):c.8350C>T (p.Gln2784Ter)
|
|
|
NM_001009944.3(PKD1):c.8353G>C (p.Gly2785Arg)
|
rs2151755659
|
|
NM_001009944.3(PKD1):c.8360G>C (p.Arg2787Pro)
|
|
|
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs)
|
rs1057518604
|
|
NM_001009944.3(PKD1):c.8390G>A (p.Gly2797Asp)
|
|
|
NM_001009944.3(PKD1):c.8399C>T (p.Pro2800Leu)
|
|
|
NM_001009944.3(PKD1):c.8411G>A (p.Cys2804Tyr)
|
rs1555451184
|
|
NM_001009944.3(PKD1):c.8423T>C (p.Ile2808Thr)
|
rs1567177764
|
|
NM_001009944.3(PKD1):c.8426C>T (p.Pro2809Leu)
|
|
|
NM_001009944.3(PKD1):c.8427del (p.Glu2810fs)
|
rs1567177760
|
|
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)
|
rs1567177684
|
|
NM_001009944.3(PKD1):c.8458_8459del (p.Leu2819_Ser2820insTer)
|
rs2092196755
|
|
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro)
|
rs1555451143
|
|
NM_001009944.3(PKD1):c.8506T>A (p.Phe2836Ile)
|
|
|
NM_001009944.3(PKD1):c.8531T>C (p.Val2844Ala)
|
rs2092191959
|
|
NM_001009944.3(PKD1):c.8543T>C (p.Val2848Ala)
|
rs2092191294
|
|
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs)
|
rs1555451093
|
|
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter)
|
rs1364976535
|
|
NM_001009944.3(PKD1):c.8566C>T (p.Gln2856Ter)
|
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.8590G>T (p.Glu2864Ter)
|
rs374629549
|
|
NM_001009944.3(PKD1):c.8615T>A (p.Ile2872Asn)
|
rs1596526236
|
|
NM_001009944.3(PKD1):c.8624dup (p.Val2876fs)
|
|
|
NM_001009944.3(PKD1):c.862C>T (p.Gln288Ter)
|
|
|
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)
|
rs771434359
|
|
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.8684A>G (p.Asn2895Ser)
|
|
|
NM_001009944.3(PKD1):c.8694G>A (p.Val2898=)
|
|
|
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)
|
rs1567176750
|
|
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)
|
rs1555450968
|
|
NM_001009944.3(PKD1):c.8705A>G (p.Gln2902Arg)
|
|
|
NM_001009944.3(PKD1):c.8744A>G (p.Asn2915Ser)
|
|
|
NM_001009944.3(PKD1):c.8747C>T (p.Pro2916Leu)
|
|
|
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)
|
rs1596525695
|
|
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)
|
rs747638599
|
|
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys)
|
rs2151752267
|
|
NM_001009944.3(PKD1):c.880A>G (p.Ile294Val)
|
|
|
NM_001009944.3(PKD1):c.8821T>A (p.Tyr2941Asn)
|
|
|
NM_001009944.3(PKD1):c.8823C>G (p.Tyr2941Ter)
|
rs780322906
|
|
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.883G>A (p.Ala295Thr)
|
|
|
NM_001009944.3(PKD1):c.8850C>T (p.Pro2950=)
|
|
|
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)
|
rs750780241
|
|
NM_001009944.3(PKD1):c.8898_8911dup (p.Ala2971fs)
|
rs1555450672
|
|
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.890C>G (p.Pro297Arg)
|
rs757527492
|
|
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr)
|
rs1555450667
|
|
NM_001009944.3(PKD1):c.8921G>A (p.Arg2974Gln)
|
|
|
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser)
|
rs1596523677
|
|
NM_001009944.3(PKD1):c.8948+28G>T
|
|
|
NM_001009944.3(PKD1):c.8949-17_8949-7del
|
rs2151750587
|
|
NM_001009944.3(PKD1):c.8955_8962del (p.Arg2985fs)
|
rs2092142482
|
|
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)
|
rs1567174997
|
|
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)
|
rs1596522636
|
|
NM_001009944.3(PKD1):c.8978T>A (p.Leu2993Gln)
|
|
|
NM_001009944.3(PKD1):c.8978T>C (p.Leu2993Pro)
|
rs1555450487
|
|
NM_001009944.3(PKD1):c.8983C>G (p.Leu2995Val)
|
|
|
NM_001009944.3(PKD1):c.8998del (p.Arg3000fs)
|
|
|
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro)
|
rs746460070
|
|
NM_001009944.3(PKD1):c.9005C>A (p.Ser3002Ter)
|
|
|
NM_001009944.3(PKD1):c.9011T>C (p.Leu3004Pro)
|
rs2151750242
|
|
NM_001009944.3(PKD1):c.9013C>T (p.Gln3005Ter)
|
|
|
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln)
|
rs750501225
|
|
NM_001009944.3(PKD1):c.9033C>G (p.Tyr3011Ter)
|
rs1408935894
|
|
NM_001009944.3(PKD1):c.9034A>G (p.Thr3012Ala)
|
|
|
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro)
|
rs2151750096
|
|
NM_001009944.3(PKD1):c.9046C>T (p.Gln3016Ter)
|
|
|
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg)
|
rs2151750082
|
|
NM_001009944.3(PKD1):c.9047del (p.Gln3016fs)
|
rs2092138707
|
|
NM_001009944.3(PKD1):c.9064G>A (p.Asp3022Asn)
|
rs537053308
|
|
NM_001009944.3(PKD1):c.9067_9123del (p.Met3023_Ala3041del)
|
rs1567174543
|
|
NM_001009944.3(PKD1):c.9076C>T (p.Arg3026Trp)
|
|
|
NM_001009944.3(PKD1):c.9077G>C (p.Arg3026Pro)
|
rs576970336
|
|
NM_001009944.3(PKD1):c.9083_9084del (p.Glu3028fs)
|
|
|
NM_001009944.3(PKD1):c.9089T>G (p.Leu3030Arg)
|
|
|
NM_001009944.3(PKD1):c.910C>G (p.Arg304Gly)
|
rs543328728
|
|
NM_001009944.3(PKD1):c.913T>C (p.Trp305Arg)
|
rs2151823617
|
|
NM_001009944.3(PKD1):c.9142C>T (p.Leu3048Phe)
|
|
|
NM_001009944.3(PKD1):c.9146C>T (p.Thr3049Ile)
|
rs2151749645
|
|
NM_001009944.3(PKD1):c.9172C>T (p.Pro3058Ser)
|
|
|
NM_001009944.3(PKD1):c.9185T>G (p.Val3062Gly)
|
rs1057518856
|
|
NM_001009944.3(PKD1):c.9193G>A (p.Val3065Met)
|
rs1004725342
|
|
NM_001009944.3(PKD1):c.9201+5G>A
|
rs1596521826
|
|
NM_001009944.3(PKD1):c.9202-10_9218del
|
rs1596521250
|
|
NM_001009944.3(PKD1):c.9231dup (p.Met3078fs)
|
rs1567173968
|
|
NM_001009944.3(PKD1):c.9233T>A (p.Met3078Lys)
|
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.924_948delinsTGGAT (p.Asp309fs)
|
rs1555459056
|
|
NM_001009944.3(PKD1):c.9276C>T (p.Ala3092=)
|
|
|
NM_001009944.3(PKD1):c.9296del (p.Asp3099fs)
|
|
|
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)
|
rs1596520985
|
|
NM_001009944.3(PKD1):c.9320_9324dup (p.Ile3109fs)
|
|
|
NM_001009944.3(PKD1):c.9334T>C (p.Cys3112Arg)
|
rs1405051804
|
|
NM_001009944.3(PKD1):c.9347_9350dup (p.Phe3118fs)
|
rs2151748289
|
|
NM_001009944.3(PKD1):c.9347del (p.Gly3116fs)
|
|
|
NM_001009944.3(PKD1):c.9361G>A (p.Glu3121Lys)
|
rs1281821418
|
|
NM_001009944.3(PKD1):c.9376A>G (p.Thr3126Ala)
|
|
|
NM_001009944.3(PKD1):c.9376A>T (p.Thr3126Ser)
|
|
|
NM_001009944.3(PKD1):c.9398-1G>A
|
rs1555449642
|
|
NM_001009944.3(PKD1):c.9398-1G>C
|
rs1555449642
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9409C>T (p.His3137Tyr)
|
|
|
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu)
|
rs1358566538
|
|
NM_001009944.3(PKD1):c.9412dup (p.Val3138fs)
|
rs1567171493
|
|
NM_001009944.3(PKD1):c.9431G>C (p.Gly3144Ala)
|
rs1596515137
|
|
NM_001009944.3(PKD1):c.9468C>T (p.Gly3156=)
|
|
|
NM_001009944.3(PKD1):c.9469G>A (p.Asp3157Asn)
|
|
|
NM_001009944.3(PKD1):c.9485G>T (p.Arg3162Leu)
|
rs1189208643
|
|
NM_001009944.3(PKD1):c.9518del (p.Pro3173fs)
|
rs1567171182
|
|
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)
|
rs769045618
|
|
NM_001009944.3(PKD1):c.9526C>T (p.Leu3176=)
|
rs745376136
|
|
NM_001009944.3(PKD1):c.9527T>A (p.Leu3176Gln)
|
rs1596514809
|
|
NM_001009944.3(PKD1):c.952G>A (p.Gly318Arg)
|
|
|
NM_001009944.3(PKD1):c.9532A>G (p.Ser3178Gly)
|
rs576381756
|
|
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)
|
rs1485297878
|
|
NM_001009944.3(PKD1):c.954_976del (p.Pro319fs)
|
rs2151823424
|
|
NM_001009944.3(PKD1):c.9558C>G (p.His3186Gln)
|
rs765094547
|
|
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)
|
rs869312944
|
|
NM_001009944.3(PKD1):c.9563A>T (p.Asn3188Ile)
|
rs1567171059
|
|
NM_001009944.3(PKD1):c.9568+1G>T
|
rs2092046394
|
|
NM_001009944.3(PKD1):c.9568G>A (p.Gly3190Arg)
|
rs1060499704
|
|
NM_001009944.3(PKD1):c.9569-1G>A
|
|
|
NM_001009944.3(PKD1):c.9571C>T (p.Leu3191Phe)
|
|
|
NM_001009944.3(PKD1):c.9577C>G (p.Pro3193Ala)
|
|
|
NM_001009944.3(PKD1):c.9582C>T (p.Ala3194=)
|
rs1399957695
|
|
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter)
|
rs1474701377
|
|
NM_001009944.3(PKD1):c.9597C>T (p.His3199=)
|
|
|
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe)
|
rs1422698524
|
|
NM_001009944.3(PKD1):c.9616C>T (p.Gln3206Ter)
|
|
|
NM_001009944.3(PKD1):c.964_965dup (p.His323fs)
|
rs1567217428
|
|
NM_001009944.3(PKD1):c.9659C>T (p.Ser3220Leu)
|
|
|
NM_001009944.3(PKD1):c.9668C>T (p.Thr3223Met)
|
|
|
NM_001009944.3(PKD1):c.9668_9694del (p.Thr3223_Glu3231del)
|
|
|
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val)
|
|
|
NM_001009944.3(PKD1):c.9715G>A (p.Asp3239Asn)
|
|
|
NM_001009944.3(PKD1):c.9729dup (p.Arg3244fs)
|
rs2092027387
|
|
NM_001009944.3(PKD1):c.9737G>A (p.Arg3246Gln)
|
|
|
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
|
rs1232180956
|
|
NM_001009944.3(PKD1):c.9756G>C (p.Glu3252Asp)
|
rs1317364403
|
|
NM_001009944.3(PKD1):c.9760C>T (p.Gln3254Ter)
|
|
|
NM_001009944.3(PKD1):c.9764G>A (p.Arg3255His)
|
|
|
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser)
|
rs1555449378
|
|
NM_001009944.3(PKD1):c.9800G>A (p.Trp3267Ter)
|
rs1460604173
|
|
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs)
|
rs1596512729
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
NM_001009944.3(PKD1):c.9862A>G (p.Ile3288Val)
|
|
|
NM_001009944.3(PKD1):c.9880G>T (p.Ala3294Ser)
|
|
|
NM_001009944.3(PKD1):c.9885del (p.Asn3295fs)
|
rs1596512492
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)
|
|
|
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs)
|
rs1567169638
|
|
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.9973G>T (p.Val3325Phe)
|
|
|
NM_001009944.3(PKD1):c.9988A>G (p.Ser3330Gly)
|
|
|