NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn)
|
rs61751498
|
0.00200
|
NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val)
|
rs61751494
|
0.00188
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser)
|
rs200279710
|
0.00076
|
NM_001009944.3(PKD1):c.8161+5C>T
|
rs534696523
|
0.00061
|
NM_001009944.3(PKD1):c.2431C>G (p.Leu811Val)
|
rs137928037
|
0.00058
|
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn)
|
rs199700485
|
0.00049
|
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr)
|
rs143312683
|
0.00044
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)
|
rs374500158
|
0.00029
|
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met)
|
rs147141131
|
0.00024
|
NM_001009944.3(PKD1):c.10363C>T (p.Leu3455=)
|
rs114102239
|
0.00022
|
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln)
|
rs374129201
|
0.00022
|
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys)
|
rs150154235
|
0.00020
|
NM_001009944.3(PKD1):c.9548G>A (p.Arg3183Gln)
|
rs79648977
|
0.00020
|
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His)
|
rs375198888
|
0.00017
|
NM_001009944.3(PKD1):c.5758C>T (p.Arg1920Cys)
|
rs185746648
|
0.00014
|
NM_001009944.3(PKD1):c.10643G>A (p.Arg3548His)
|
rs62624465
|
0.00011
|
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=)
|
rs561467860
|
0.00011
|
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu)
|
rs201062488
|
0.00011
|
NM_001009944.3(PKD1):c.8755G>A (p.Gly2919Arg)
|
rs139438157
|
0.00011
|
NM_001009944.3(PKD1):c.3486C>G (p.Asp1162Glu)
|
rs144211349
|
0.00010
|
NM_001009944.3(PKD1):c.4220C>T (p.Pro1407Leu)
|
rs140412120
|
0.00010
|
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp)
|
rs372340268
|
0.00010
|
NM_000297.4(PKD2):c.2391A>C (p.Pro797=)
|
rs556777891
|
0.00009
|
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr)
|
rs201035636
|
0.00009
|
NM_001009944.3(PKD1):c.5704G>A (p.Gly1902Arg)
|
rs370479407
|
0.00009
|
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile)
|
rs751776839
|
0.00008
|
NM_001009944.3(PKD1):c.10101C>T (p.Ile3367=)
|
rs535964972
|
0.00007
|
NM_001009944.3(PKD1):c.413G>A (p.Arg138Gln)
|
rs2515725
|
0.00007
|
NM_001009944.3(PKD1):c.11627C>T (p.Ala3876Val)
|
rs759962601
|
0.00006
|
NM_001009944.3(PKD1):c.12171C>T (p.Ser4057=)
|
rs140154490
|
0.00006
|
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val)
|
rs1353004865
|
0.00006
|
NM_001009944.3(PKD1):c.8963C>T (p.Ala2988Val)
|
rs765076655
|
0.00006
|
NM_138694.4(PKHD1):c.171A>G (p.Gln57=)
|
rs543640706
|
0.00006
|
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.3714C>T (p.Gly1238=)
|
rs769745056
|
0.00004
|
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=)
|
rs142035983
|
0.00004
|
NM_001009944.3(PKD1):c.6091G>A (p.Val2031Met)
|
rs765389584
|
0.00004
|
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val)
|
rs761726794
|
0.00004
|
NM_001009944.3(PKD1):c.2396G>A (p.Arg799Gln)
|
rs766489466
|
0.00003
|
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu)
|
rs767363184
|
0.00003
|
NM_001009944.3(PKD1):c.6440G>A (p.Arg2147Gln)
|
rs771035065
|
0.00003
|
NM_001009944.3(PKD1):c.7818G>C (p.Gln2606His)
|
rs753798096
|
0.00003
|
NM_001009944.3(PKD1):c.9398-8C>T
|
rs781378410
|
0.00003
|
NM_138694.4(PKHD1):c.3704G>A (p.Arg1235Gln)
|
rs567239866
|
0.00003
|
NM_001009944.3(PKD1):c.11156+4C>T
|
rs1417376349
|
0.00002
|
NM_001009944.3(PKD1):c.360-5T>C
|
rs4018168
|
0.00002
|
NM_001009944.3(PKD1):c.773C>T (p.Thr258Ile)
|
rs754889452
|
0.00002
|
NM_001009944.3(PKD1):c.8366A>G (p.Asp2789Gly)
|
rs772565411
|
0.00002
|
NM_006218.4(PIK3CA):c.2309G>A (p.Arg770Gln)
|
rs749840319
|
0.00002
|
NM_000297.4(PKD2):c.710-10T>G
|
rs1727324181
|
0.00001
|
NM_000297.4(PKD2):c.711G>C (p.Leu237Phe)
|
rs781318662
|
0.00001
|
NM_000297.4(PKD2):c.843+6T>C
|
rs753371816
|
0.00001
|
NM_000297.4(PKD2):c.900G>C (p.Gln300His)
|
rs1394365736
|
0.00001
|
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys)
|
rs1287231217
|
0.00001
|
NM_001009944.3(PKD1):c.10726G>A (p.Val3576Met)
|
rs1483830437
|
0.00001
|
NM_001009944.3(PKD1):c.167T>C (p.Leu56Pro)
|
rs2092940195
|
0.00001
|
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)
|
rs1163700577
|
0.00001
|
NM_001009944.3(PKD1):c.2882C>T (p.Ser961Leu)
|
rs1409614100
|
0.00001
|
NM_001009944.3(PKD1):c.3080T>G (p.Val1027Gly)
|
rs377725958
|
0.00001
|
NM_001009944.3(PKD1):c.3873C>G (p.Val1291=)
|
rs753464188
|
0.00001
|
NM_001009944.3(PKD1):c.3920C>T (p.Thr1307Met)
|
rs527659927
|
0.00001
|
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro)
|
rs541777274
|
0.00001
|
NM_001009944.3(PKD1):c.5297T>G (p.Phe1766Cys)
|
rs767720073
|
0.00001
|
NM_001009944.3(PKD1):c.6527G>A (p.Arg2176His)
|
rs777123546
|
0.00001
|
NM_001009944.3(PKD1):c.8043C>G (p.Arg2681=)
|
rs1040303746
|
0.00001
|
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser)
|
rs1057523051
|
0.00001
|
NM_001009944.3(PKD1):c.8504C>T (p.Pro2835Leu)
|
rs2575317
|
0.00001
|
NM_001009944.3(PKD1):c.9885C>T (p.Asn3295=)
|
rs764028566
|
0.00001
|
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)
|
rs777158800
|
0.00001
|
NM_138694.4(PKHD1):c.3561-11A>G
|
rs774114631
|
0.00001
|
NM_181645.4(DEUP1):c.1577C>T (p.Ser526Leu)
|
rs779898555
|
0.00001
|
NM_000297.4(PKD2):c.1262C>A (p.Ala421Glu)
|
rs1727652224
|
|
NM_000297.4(PKD2):c.155T>C (p.Leu52Pro)
|
rs1726229362
|
|
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu)
|
rs1720129428
|
|
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del)
|
rs1720323681
|
|
NM_000297.4(PKD2):c.2525T>G (p.Leu842Arg)
|
rs1721170351
|
|
NM_000297.4(PKD2):c.488C>G (p.Pro163Arg)
|
rs1726250193
|
|
NM_000297.4(PKD2):c.586G>A (p.Gly196Arg)
|
rs756765752
|
|
NM_000297.4(PKD2):c.710-3C>G
|
rs1727324496
|
|
NM_000297.4(PKD2):c.875A>C (p.Tyr292Ser)
|
rs1560608538
|
|
NM_000297.4(PKD2):c.954T>C (p.Val318=)
|
rs1727418866
|
|
NM_001009944.3(PKD1):c.10051-10C>A
|
rs3874642
|
|
NM_001009944.3(PKD1):c.10349A>G (p.Glu3450Gly)
|
rs1321795630
|
|
NM_001009944.3(PKD1):c.10619-12_10619-11del
|
rs1287879038
|
|
NM_001009944.3(PKD1):c.10657T>G (p.Trp3553Gly)
|
rs1349398113
|
|
NM_001009944.3(PKD1):c.11242C>T (p.Arg3748Trp)
|
rs2091642915
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001009944.3(PKD1):c.11410G>A (p.Gly3804Arg)
|
rs2091612949
|
|
NM_001009944.3(PKD1):c.11412-7C>G
|
rs553377243
|
|
NM_001009944.3(PKD1):c.11538-10C>A
|
rs377419559
|
|
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro)
|
rs2092665731
|
|
NM_001009944.3(PKD1):c.11768A>C (p.His3923Pro)
|
rs1472012498
|
|
NM_001009944.3(PKD1):c.11831T>C (p.Leu3944Pro)
|
rs2091494966
|
|
NM_001009944.3(PKD1):c.12048C>T (p.Gly4016=)
|
rs756122519
|
|
NM_001009944.3(PKD1):c.12062G>A (p.Arg4021Gln)
|
rs1487111123
|
|
NM_001009944.3(PKD1):c.12165C>T (p.Leu4055=)
|
rs375183934
|
|
NM_001009944.3(PKD1):c.12382G>A (p.Glu4128Lys)
|
rs1596473289
|
|
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)
|
rs1282668884
|
|
NM_001009944.3(PKD1):c.12781G>A (p.Gly4261Ser)
|
rs2091385750
|
|
NM_001009944.3(PKD1):c.12824C>T (p.Ala4275Val)
|
rs1211572683
|
|
NM_001009944.3(PKD1):c.1379T>G (p.Val460Gly)
|
rs2092659177
|
|
NM_001009944.3(PKD1):c.1385+12del
|
rs1357257296
|
|
NM_001009944.3(PKD1):c.1385+13del
|
rs2092658494
|
|
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)
|
rs2855341
|
|
NM_001009944.3(PKD1):c.1817G>C (p.Arg606Pro)
|
rs2092629034
|
|
NM_001009944.3(PKD1):c.1827G>A (p.Val609=)
|
rs905577227
|
|
NM_001009944.3(PKD1):c.2076G>A (p.Ala692=)
|
rs1317987043
|
|
NM_001009944.3(PKD1):c.2306T>G (p.Leu769Arg)
|
rs2092600592
|
|
NM_001009944.3(PKD1):c.2438G>T (p.Cys813Phe)
|
rs2092598008
|
|
NM_001009944.3(PKD1):c.2452G>C (p.Val818Leu)
|
rs2092597752
|
|
NM_001009944.3(PKD1):c.2498A>G (p.Asp833Gly)
|
rs1354266181
|
|
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)
|
rs1567208088
|
|
NM_001009944.3(PKD1):c.288-6_288-5del
|
rs2092684439
|
|
NM_001009944.3(PKD1):c.2986-12del
|
rs2092557921
|
|
NM_001009944.3(PKD1):c.2992G>C (p.Ala998Pro)
|
rs2092557509
|
|
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp)
|
rs2092684149
|
|
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser)
|
rs2092538545
|
|
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)
|
rs1320867301
|
|
NM_001009944.3(PKD1):c.3486_3489delinsGTTT (p.Asp1162Glu)
|
rs2092509681
|
|
NM_001009944.3(PKD1):c.4039C>G (p.His1347Asp)
|
rs774648280
|
|
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro)
|
rs2092490160
|
|
NM_001009944.3(PKD1):c.4328T>G (p.Val1443Gly)
|
rs2092482898
|
|
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.4982A>T (p.Asn1661Ile)
|
rs1440789964
|
|
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu)
|
rs577487876
|
|
NM_001009944.3(PKD1):c.5753C>T (p.Thr1918Ile)
|
rs878915702
|
|
NM_001009944.3(PKD1):c.5921T>G (p.Leu1974Arg)
|
rs2092439627
|
|
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)
|
rs2092438025
|
|
NM_001009944.3(PKD1):c.6062T>C (p.Leu2021Pro)
|
rs2092435927
|
|
NM_001009944.3(PKD1):c.6179C>G (p.Ala2060Gly)
|
rs753999046
|
|
NM_001009944.3(PKD1):c.6323_6334del (p.Pro2108_Glu2111del)
|
rs2092427430
|
|
NM_001009944.3(PKD1):c.6658C>T (p.Arg2220Trp)
|
rs769509393
|
|
NM_001009944.3(PKD1):c.6714C>G (p.Asp2238Glu)
|
rs2092416905
|
|
NM_001009944.3(PKD1):c.6826C>G (p.Leu2276Val)
|
rs2092413572
|
|
NM_001009944.3(PKD1):c.6831T>A (p.Asp2277Glu)
|
rs2092413339
|
|
NM_001009944.3(PKD1):c.7066-10C>G
|
rs776383013
|
|
NM_001009944.3(PKD1):c.7265C>A (p.Thr2422Lys)
|
rs1555453210
|
|
NM_001009944.3(PKD1):c.7350G>T (p.Val2450=)
|
rs2092342494
|
|
NM_001009944.3(PKD1):c.7375G>T (p.Gly2459Cys)
|
rs1555453102
|
|
NM_001009944.3(PKD1):c.7828G>A (p.Glu2610Lys)
|
rs774694720
|
|
NM_001009944.3(PKD1):c.7843C>T (p.Leu2615=)
|
rs771676768
|
|
NM_001009944.3(PKD1):c.8017-11G>A
|
rs2092264285
|
|
NM_001009944.3(PKD1):c.8087T>C (p.Leu2696Pro)
|
rs201238819
|
|
NM_001009944.3(PKD1):c.8091_8093del (p.Ile2697_Leu2698delinsMet)
|
rs2092261350
|
|
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu)
|
rs1395231369
|
|
NM_001009944.3(PKD1):c.8156T>C (p.Ile2719Thr)
|
rs2092259288
|
|
NM_001009944.3(PKD1):c.8184C>T (p.Ser2728=)
|
rs772197330
|
|
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)
|
rs879809222
|
|
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro)
|
rs145629362
|
|
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)
|
rs1596527405
|
|
NM_001009944.3(PKD1):c.8308_8310del (p.Asn2770del)
|
rs2092203060
|
|
NM_001009944.3(PKD1):c.8423T>A (p.Ile2808Asn)
|
rs1567177764
|
|
NM_001009944.3(PKD1):c.8459G>T (p.Ser2820Ile)
|
rs750662535
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.8702C>T (p.Pro2901Leu)
|
rs2092181383
|
|
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val)
|
rs769436046
|
|
NM_001009944.3(PKD1):c.9251G>A (p.Cys3084Tyr)
|
rs2092123424
|
|
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile)
|
rs2092053154
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val)
|
rs2092048001
|
|
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
|
rs1232180956
|
|
NM_001009944.3(PKD1):c.9758T>A (p.Leu3253Gln)
|
rs2092025452
|
|
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met)
|
rs541894980
|
|
NM_138694.4(PKHD1):c.11309A>G (p.Gln3770Arg)
|
rs1770520773
|
|
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr)
|
rs1554208064
|
|
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val)
|
rs749029593
|
|
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp)
|
rs752432638
|
|