NM_138694.4(PKHD1):c.281+297A>G
|
rs6458806
|
0.99845
|
NM_138694.4(PKHD1):c.5381-253T>C
|
rs2435321
|
0.99845
|
NM_138694.4(PKHD1):c.8950+199T>C
|
rs1326607
|
0.99156
|
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)
|
rs1896976
|
0.96234
|
NM_138694.4(PKHD1):c.2279+57A>G
|
rs9395759
|
0.96175
|
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)
|
rs2435322
|
0.95778
|
NM_138694.4(PKHD1):c.11665+278A>G
|
rs2784213
|
0.95049
|
NM_138694.4(PKHD1):c.7350+302A>G
|
rs6458801
|
0.90102
|
NM_138694.4(PKHD1):c.6121+155C>T
|
rs1266888
|
0.70286
|
NM_138694.4(PKHD1):c.5909-46A>G
|
rs1266889
|
0.70194
|
NM_138694.4(PKHD1):c.10156+22412C>T
|
rs9349593
|
0.65024
|
NM_138694.4(PKHD1):c.8108-217C>T
|
rs9474105
|
0.60763
|
NM_138694.4(PKHD1):c.8303-217T>C
|
rs4715233
|
0.57786
|
NM_138694.4(PKHD1):c.8303-328A>G
|
rs2104521
|
0.57784
|
NM_138694.4(PKHD1):c.8303-65C>A
|
rs7765455
|
0.57777
|
NM_138694.4(PKHD1):c.8440+231G>A
|
rs6924716
|
0.57546
|
NM_138694.4(PKHD1):c.8440+238A>G
|
rs6904634
|
0.57529
|
NM_138694.4(PKHD1):c.707+226T>G
|
rs4715276
|
0.55402
|
NM_138694.4(PKHD1):c.881-116A>C
|
rs186668459
|
0.53287
|
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)
|
rs9381994
|
0.52715
|
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg)
|
rs4715227
|
0.52431
|
NM_138694.4(PKHD1):c.7912-244C>G
|
rs927861
|
0.50778
|
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=)
|
rs12210295
|
0.49949
|
NM_138694.4(PKHD1):c.881-248C>T
|
rs2163186
|
0.48123
|
NM_138694.4(PKHD1):c.5380+180A>C
|
rs2195590
|
0.46807
|
NM_138694.4(PKHD1):c.3629-32A>G
|
rs2499480
|
0.46280
|
NM_138694.4(PKHD1):c.8302+12T>A
|
rs1571084
|
0.45597
|
NM_138694.4(PKHD1):c.8302+89A>T
|
rs1571083
|
0.45590
|
NM_138694.4(PKHD1):c.8174-287C>T
|
rs1571086
|
0.45515
|
NM_138694.4(PKHD1):c.8173+144G>A
|
rs9474104
|
0.45513
|
NM_138694.4(PKHD1):c.8174-269T>C
|
rs1571085
|
0.45491
|
NM_138694.4(PKHD1):c.3364+263G>A
|
rs2435331
|
0.45446
|
NM_138694.4(PKHD1):c.5600+133G>C
|
rs9349614
|
0.45063
|
NM_138694.4(PKHD1):c.282-41A>G
|
rs1892274
|
0.43840
|
NM_138694.4(PKHD1):c.-84-47T>C
|
rs9370097
|
0.43816
|
NM_138694.4(PKHD1):c.3365-299A>G
|
rs1896971
|
0.42427
|
NM_138694.4(PKHD1):c.881-114A>C
|
rs1896985
|
0.42364
|
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys)
|
rs9370096
|
0.41404
|
NM_138694.4(PKHD1):c.976+277A>C
|
rs4715273
|
0.41175
|
NM_138694.4(PKHD1):c.3229-301A>T
|
rs9370093
|
0.41116
|
NM_138694.4(PKHD1):c.667+57G>A
|
rs17576809
|
0.41111
|
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)
|
rs9296669
|
0.41087
|
NM_138694.4(PKHD1):c.2407+50C>T
|
rs10948667
|
0.41035
|
NM_138694.4(PKHD1):c.602+67A>G
|
rs3936986
|
0.41008
|
NM_138694.4(PKHD1):c.7215+102T>A
|
rs4711985
|
0.39765
|
NM_138694.4(PKHD1):c.7351-176A>G
|
rs2064871
|
0.39630
|
NM_138694.4(PKHD1):c.7734-4T>C
|
rs7452724
|
0.39369
|
NM_138694.4(PKHD1):c.7733+63C>T
|
rs9382043
|
0.39367
|
NM_138694.4(PKHD1):c.7733+33C>T
|
rs9382044
|
0.39361
|
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=)
|
rs9349603
|
0.39323
|
NM_138694.4(PKHD1):c.11398+122A>G
|
rs2580009
|
0.38766
|
NM_138694.4(PKHD1):c.8107+81T>A
|
rs9370067
|
0.36798
|
NM_138694.4(PKHD1):c.11666-250A>T
|
rs9370040
|
0.35328
|
NM_138694.4(PKHD1):c.7350+368A>G
|
rs9395738
|
0.33411
|
NM_138694.4(PKHD1):c.8441-32G>C
|
rs3920621
|
0.33143
|
NM_138694.4(PKHD1):c.9998+49A>G
|
rs2397060
|
0.32325
|
NM_138694.4(PKHD1):c.707+228G>A
|
rs6903209
|
0.31250
|
NM_138694.4(PKHD1):c.10156+202C>T
|
rs1507911
|
0.30676
|
NM_138694.4(PKHD1):c.9998+175T>C
|
rs35999523
|
0.30649
|
NM_138694.4(PKHD1):c.8643-154C>T
|
rs9395712
|
0.30610
|
NM_138694.4(PKHD1):c.8643-185A>G
|
rs9370050
|
0.30589
|
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)
|
rs765525
|
0.30589
|
NM_138694.4(PKHD1):c.8643-72C>T
|
rs9370049
|
0.30583
|
NM_138694.4(PKHD1):c.8643-236T>C
|
rs9382006
|
0.30571
|
NM_138694.4(PKHD1):c.10156+167_10156+168insAA
|
rs3061729
|
0.30491
|
NM_138694.4(PKHD1):c.234C>T (p.Asp78=)
|
rs9474143
|
0.29769
|
NM_138694.4(PKHD1):c.11666-132A>C
|
rs9474033
|
0.29708
|
NM_138694.4(PKHD1):c.977-225A>G
|
rs13198604
|
0.28079
|
NM_138694.4(PKHD1):c.880+337A>C
|
rs12529349
|
0.27511
|
NM_138694.4(PKHD1):c.527+19T>C
|
rs9474140
|
0.27509
|
NM_138694.4(PKHD1):c.11175-187A>G
|
rs12661009
|
0.27249
|
NM_138694.4(PKHD1):c.10156+22411G>A
|
rs45451196
|
0.21949
|
NM_138694.4(PKHD1):c.8555-124G>A
|
rs6922497
|
0.19062
|
NM_138694.4(PKHD1):c.8441-68T>C
|
rs7775050
|
0.19022
|
NM_138694.4(PKHD1):c.881-110A>C
|
rs868440105
|
0.18459
|
NM_138694.4(PKHD1):c.6121+148A>T
|
rs1884953
|
0.17801
|
NM_138694.4(PKHD1):c.6490+62A>G
|
rs12196767
|
0.14660
|
NM_138694.4(PKHD1):c.11786-30C>T
|
rs9395699
|
0.14058
|
NM_138694.4(PKHD1):c.1234-10T>A
|
rs4715272
|
0.12902
|
NM_138694.4(PKHD1):c.1837-290C>T
|
rs2082105
|
0.11592
|
NM_138694.4(PKHD1):c.6491-106A>T
|
rs1266871
|
0.11314
|
NM_138694.4(PKHD1):c.8797+138C>T
|
rs12661470
|
0.10173
|
NM_138694.4(PKHD1):c.8173+101A>T
|
rs55777546
|
0.09629
|
NM_138694.4(PKHD1):c.2715+239A>G
|
rs12660652
|
0.09462
|
NM_138694.4(PKHD1):c.214C>T (p.Leu72=)
|
rs6901799
|
0.09338
|
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=)
|
rs4715271
|
0.07716
|
NM_138694.4(PKHD1):c.881-108A>C
|
rs867819307
|
0.07589
|
NM_138694.4(PKHD1):c.778+213A>G
|
rs11757861
|
0.06893
|
NM_138694.4(PKHD1):c.10521C>T (p.His3507=)
|
rs34460237
|
0.06613
|
NM_138694.4(PKHD1):c.977-208A>G
|
rs62406038
|
0.06526
|
NM_138694.4(PKHD1):c.11175-169A>G
|
rs9463701
|
0.06409
|
NM_138694.4(PKHD1):c.3229-181G>C
|
rs36119731
|
0.06341
|
NM_138694.4(PKHD1):c.8643-24A>G
|
rs2766125
|
0.05514
|
NM_138694.4(PKHD1):c.8798-19del
|
rs112525785
|
0.05493
|
NM_138694.4(PKHD1):c.8174-324G>C
|
rs77294866
|
0.05409
|
NM_138694.4(PKHD1):c.8174-49G>C
|
rs12527920
|
0.05408
|
NM_138694.4(PKHD1):c.6997-198G>A
|
rs57327960
|
0.05344
|
NM_138694.4(PKHD1):c.8108-166A>G
|
rs12525771
|
0.05324
|
NM_138694.4(PKHD1):c.8108-195A>G
|
rs12525775
|
0.05324
|
NM_138694.4(PKHD1):c.8173+37G>A
|
rs12523900
|
0.05319
|
NM_138694.4(PKHD1):c.8108-64G>A
|
rs12523926
|
0.05318
|
NM_138694.4(PKHD1):c.8173+112A>G
|
rs12525711
|
0.05316
|
NM_138694.4(PKHD1):c.11666-319T>G
|
rs2784205
|
0.05295
|
NM_138694.4(PKHD1):c.8302+18A>G
|
rs12529717
|
0.05228
|
NM_138694.4(PKHD1):c.448+258A>G
|
rs17638791
|
0.05041
|
NM_138694.4(PKHD1):c.602+196G>A
|
rs17638644
|
0.05036
|
NM_138694.4(PKHD1):c.527+51G>T
|
rs62406055
|
0.05032
|
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=)
|
rs62406036
|
0.05014
|
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)
|
rs62406032
|
0.05010
|
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile)
|
rs9474034
|
0.04948
|
NM_138694.4(PKHD1):c.11399-71G>A
|
rs2661511
|
0.04846
|
NM_138694.4(PKHD1):c.11506+76G>A
|
rs2580020
|
0.04697
|
NM_138694.4(PKHD1):c.11506+104G>A
|
rs2580021
|
0.04534
|
NM_138694.4(PKHD1):c.11785+239G>C
|
rs2784203
|
0.04509
|
NM_138694.4(PKHD1):c.11666-255T>C
|
rs2771015
|
0.04505
|
NM_138694.4(PKHD1):c.11506+225C>T
|
rs2661512
|
0.04501
|
NM_138694.4(PKHD1):c.11399-204A>G
|
rs2661510
|
0.04500
|
NM_138694.4(PKHD1):c.11507-21A>G
|
rs2174860
|
0.04499
|
NM_138694.4(PKHD1):c.11666-219T>C
|
rs2784204
|
0.04499
|
NM_138694.4(PKHD1):c.11506+259A>G
|
rs2784227
|
0.04498
|
NM_138694.4(PKHD1):c.11665+217A>T
|
rs2784214
|
0.04493
|
NM_138694.4(PKHD1):c.11666-39_11666-38insATAAAAATGTTCTTTTTAT
|
rs377616372
|
0.04493
|
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn)
|
rs2661488
|
0.04490
|
NM_138694.4(PKHD1):c.10156+22638T>G
|
rs73442840
|
0.04109
|
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=)
|
rs9689306
|
0.03897
|
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)
|
rs1266923
|
0.03202
|
NM_138694.4(PKHD1):c.11786-187G>A
|
rs75914518
|
0.03135
|
NM_138694.4(PKHD1):c.2141-321T>C
|
rs73433799
|
0.03057
|
NM_138694.4(PKHD1):c.8174-335A>T
|
rs77094816
|
0.02555
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_138694.4(PKHD1):c.8303-290C>T
|
rs60100099
|
0.02272
|
NM_138694.4(PKHD1):c.1694-32C>G
|
rs12196276
|
0.02096
|
NM_138694.4(PKHD1):c.1234-39C>G
|
rs115660674
|
0.02051
|
NM_138694.4(PKHD1):c.9829+227A>G
|
rs73426017
|
0.02022
|
NM_138694.4(PKHD1):c.8950+44A>G
|
rs58823342
|
0.01939
|
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)
|
rs35445653
|
0.01835
|
NM_138694.4(PKHD1):c.8108-16G>C
|
rs73442356
|
0.01832
|
NM_138694.4(PKHD1):c.527+187A>G
|
rs112184687
|
0.01764
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)
|
rs145184792
|
0.01187
|
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)
|
rs34548196
|
0.01161
|
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val)
|
rs76895755
|
0.01078
|
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=)
|
rs2499482
|
0.01071
|
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser)
|
rs2499481
|
0.01066
|
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
NM_138694.4(PKHD1):c.1233+40G>C
|
rs116995892
|
0.00928
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_138694.4(PKHD1):c.282-150G>A
|
rs150937703
|
0.00840
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
|
rs139014478
|
0.00721
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)
|
rs147487242
|
0.00646
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
NM_138694.4(PKHD1):c.10157-32A>G
|
rs188183863
|
0.00576
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_138694.4(PKHD1):c.9829+10T>G
|
rs143526199
|
0.00518
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)
|
rs117122807
|
0.00080
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp)
|
rs141384205
|
0.00055
|
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)
|
rs148335285
|
0.00052
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=)
|
rs140033417
|
0.00001
|
GRCh37/hg19 6p12.3(chr6:51666631-51669392)x1
|
|
|
GRCh37/hg19 6p12.3(chr6:51667324-51669392)x1
|
|
|
GRCh37/hg19 6p12.3(chr6:51667324-51669492)x1
|
|
|
GRCh37/hg19 6p12.3(chr6:51728998-51737987)x0
|
|
|
GRCh37/hg19 6p12.3(chr6:51734163-51736742)x0
|
|
|
GRCh37/hg19 6p12.3(chr6:51736175-51757497)x1
|
|
|
NM_138694.4(PKHD1):c.-84-234ATT[3]
|
rs3062577
|
|
NM_138694.4(PKHD1):c.10156+22044C>T
|
rs72899385
|
|
NM_138694.4(PKHD1):c.1119-102_1119-100del
|
rs149924869
|
|
NM_138694.4(PKHD1):c.11398+66G>C
|
rs2661501
|
|
NM_138694.4(PKHD1):c.11506+32_11506+34dup
|
rs376358912
|
|
NM_138694.4(PKHD1):c.11506+32dup
|
rs376358912
|
|
NM_138694.4(PKHD1):c.11506+49del
|
rs376358912
|
|
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)
|
rs76572975
|
|
NM_138694.4(PKHD1):c.11665+40dup
|
rs35521028
|
|
NM_138694.4(PKHD1):c.11665+47del
|
rs35521028
|
|
NM_138694.4(PKHD1):c.11665+9dup
|
rs373325476
|
|
NM_138694.4(PKHD1):c.11666-308dup
|
rs142841800
|
|
NM_138694.4(PKHD1):c.11786-235del
|
rs35827057
|
|
NM_138694.4(PKHD1):c.1234-206TAGA[10]
|
rs56342114
|
|
NM_138694.4(PKHD1):c.1234-206TAGA[11]
|
rs56342114
|
|
NM_138694.4(PKHD1):c.1234-206TAGA[6]
|
rs56342114
|
|
NM_138694.4(PKHD1):c.1234-206TAGA[8]
|
rs56342114
|
|
NM_138694.4(PKHD1):c.2592+56dup
|
rs58370838
|
|
NM_138694.4(PKHD1):c.282-195dup
|
rs200536402
|
|
NM_138694.4(PKHD1):c.3229-192G>A
|
rs35175045
|
|
NM_138694.4(PKHD1):c.3365-183dup
|
rs5876250
|
|
NM_138694.4(PKHD1):c.3628+280dup
|
rs1229066296
|
|
NM_138694.4(PKHD1):c.3628+296del
|
rs1229066296
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
NM_138694.4(PKHD1):c.6865+126AT[11]
|
rs66966800
|
|
NM_138694.4(PKHD1):c.6865+126AT[12]
|
rs66966800
|
|
NM_138694.4(PKHD1):c.6865+126AT[13]
|
rs66966800
|
|
NM_138694.4(PKHD1):c.6865+126AT[15]
|
rs66966800
|
|
NM_138694.4(PKHD1):c.707+143A>C
|
rs4711996
|
|
NM_138694.4(PKHD1):c.7110-191C>T
|
rs78965888
|
|
NM_138694.4(PKHD1):c.7216-175_7216-173del
|
rs66492359
|
|
NM_138694.4(PKHD1):c.733C>T (p.Leu245=)
|
rs111809699
|
|
NM_138694.4(PKHD1):c.7486+41C>A
|
rs982874
|
|
NM_138694.4(PKHD1):c.779-13_779-12del
|
rs5876252
|
|
NM_138694.4(PKHD1):c.779-25dup
|
rs5876252
|
|
NM_138694.4(PKHD1):c.8174-172G>C
|
rs73442318
|
|
NM_138694.4(PKHD1):c.8441-155del
|
rs150000340
|
|
NM_138694.4(PKHD1):c.8642+260C>G
|
rs6921856
|
|
NM_138694.4(PKHD1):c.881-112A>C
|
rs190167278
|
|
NM_138694.4(PKHD1):c.881-119TA[15]
|
rs369093047
|
|
NM_138694.4(PKHD1):c.881-135_881-134insTG
|
rs1554220743
|
|
NM_138694.4(PKHD1):c.977-220del
|
rs34087510
|
|