NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)
|
rs1896976
|
0.96234
|
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)
|
rs2435322
|
0.95778
|
NM_138694.4(PKHD1):c.8798-19A>C
|
rs1326605
|
0.73187
|
NM_138694.4(PKHD1):c.5909-46A>G
|
rs1266889
|
0.70194
|
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.7587G>A (p.Gly2529=)
|
rs12210295
|
0.49949
|
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.2278C>T (p.Arg760Cys)
|
rs9370096
|
0.41404
|
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.7734-4T>C
|
rs7452724
|
0.39369
|
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.8441-32G>C
|
rs3920621
|
0.33143
|
NM_138694.4(PKHD1):c.9998+49A>G
|
rs2397060
|
0.32325
|
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)
|
rs765525
|
0.30589
|
NM_138694.4(PKHD1):c.234C>T (p.Asp78=)
|
rs9474143
|
0.29769
|
NM_138694.4(PKHD1):c.527+19T>C
|
rs9474140
|
0.27509
|
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.214C>T (p.Leu72=)
|
rs6901799
|
0.09338
|
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=)
|
rs4715271
|
0.07716
|
NM_138694.4(PKHD1):c.10521C>T (p.His3507=)
|
rs34460237
|
0.06613
|
NM_138694.4(PKHD1):c.8643-24A>G
|
rs2766125
|
0.05514
|
NM_138694.4(PKHD1):c.8174-49G>C
|
rs12527920
|
0.05408
|
NM_138694.4(PKHD1):c.8173+37G>A
|
rs12523900
|
0.05319
|
NM_138694.4(PKHD1):c.8302+18A>G
|
rs12529717
|
0.05228
|
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.11507-21A>G
|
rs2174860
|
0.04499
|
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn)
|
rs2661488
|
0.04490
|
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=)
|
rs9689306
|
0.03897
|
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)
|
rs17667728
|
0.03744
|
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)
|
rs1266923
|
0.03202
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
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.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.11174+11A>G
|
rs115072237
|
0.01349
|
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=)
|
rs116098879
|
0.01291
|
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.8174-18T>A
|
rs111383080
|
0.01154
|
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.391-43T>A
|
rs116414807
|
0.00920
|
NM_138694.4(PKHD1):c.888A>T (p.Pro296=)
|
rs76012218
|
0.00916
|
NM_138694.4(PKHD1):c.7733+43G>A
|
rs141811489
|
0.00897
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_138694.4(PKHD1):c.1603-28T>C
|
rs73435705
|
0.00844
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
NM_138694.4(PKHD1):c.7110-7T>A
|
rs113034899
|
0.00770
|
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)
|
rs140791735
|
0.00769
|
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.2279+13T>G
|
rs188914598
|
0.00572
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_138694.4(PKHD1):c.2407+42T>G
|
rs78918693
|
0.00539
|
NM_138694.4(PKHD1):c.9829+10T>G
|
rs143526199
|
0.00518
|
NM_138694.4(PKHD1):c.1964+17G>T
|
rs201349527
|
0.00517
|
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)
|
rs140065359
|
0.00482
|
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His)
|
rs2661487
|
0.00453
|
NM_138694.4(PKHD1):c.2407+37A>T
|
rs115353478
|
0.00413
|
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.2715+7del
|
rs551015414
|
0.00313
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=)
|
rs116156469
|
0.00271
|
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His)
|
rs143832120
|
0.00271
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_138694.4(PKHD1):c.8951-13C>T
|
rs112249812
|
0.00163
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=)
|
rs78543922
|
0.00113
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)
|
rs17752991
|
0.00084
|
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)
|
rs117122807
|
0.00080
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
NM_138694.4(PKHD1):c.3365-32T>A
|
rs139697312
|
0.00071
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
NM_138694.4(PKHD1):c.1119-18C>G
|
rs367960459
|
0.00053
|
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)
|
rs148335285
|
0.00052
|
NM_138694.4(PKHD1):c.11507-11C>T
|
rs201478327
|
0.00050
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
NM_138694.4(PKHD1):c.7911+19T>C
|
rs201017366
|
0.00040
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)
|
rs141349745
|
0.00025
|
NM_138694.4(PKHD1):c.130+9G>A
|
rs367608402
|
0.00025
|
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu)
|
rs147933501
|
0.00022
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_138694.4(PKHD1):c.8554+3A>G
|
rs370312392
|
0.00021
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
0.00020
|
NM_138694.4(PKHD1):c.7734-6C>A
|
rs367564272
|
0.00020
|
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=)
|
rs182468850
|
0.00019
|
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=)
|
rs755688912
|
0.00017
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
NM_138694.4(PKHD1):c.812T>A (p.Leu271His)
|
rs750887164
|
0.00014
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)
|
rs201769990
|
0.00012
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg)
|
rs369932370
|
0.00009
|
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)
|
rs140608845
|
0.00009
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys)
|
rs146680689
|
0.00007
|
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)
|
rs201091083
|
0.00006
|
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=)
|
rs748084543
|
0.00006
|
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp)
|
rs148356158
|
0.00005
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile)
|
rs147035447
|
0.00004
|
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg)
|
rs146649894
|
0.00004
|
NM_138694.4(PKHD1):c.779-9C>T
|
rs886038726
|
0.00004
|
NM_138694.4(PKHD1):c.8173+12C>T
|
rs368093611
|
0.00004
|
NM_138694.4(PKHD1):c.880+42A>G
|
rs754400707
|
0.00004
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
NM_138694.4(PKHD1):c.4039G>A (p.Val1347Met)
|
rs201087689
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)
|
rs1303599332
|
0.00002
|
NM_138694.4(PKHD1):c.11310+19C>T
|
rs767496904
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
NM_138694.4(PKHD1):c.6332+22A>G
|
rs372657563
|
0.00002
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=)
|
rs200466480
|
0.00002
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.10132T>G (p.Trp3378Gly)
|
rs1784939891
|
0.00001
|
NM_138694.4(PKHD1):c.11578A>G (p.Ile3860Val)
|
rs755986501
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138694.4(PKHD1):c.1964+22G>A
|
rs375534282
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_138694.4(PKHD1):c.3561-47A>G
|
rs754131274
|
0.00001
|
NM_138694.4(PKHD1):c.390+26A>G
|
rs377684807
|
0.00001
|
NM_138694.4(PKHD1):c.5556T>C (p.His1852=)
|
rs549418638
|
0.00001
|
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
0.00001
|
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
|
rs749454235
|
0.00001
|
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)
|
rs199996156
|
0.00001
|
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=)
|
rs140033417
|
0.00001
|
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro)
|
rs776157924
|
0.00001
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)
|
rs764734730
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
GRCh37/hg19 6p12.2(chr6:51801779-51878315)
|
|
|
NC_000006.11:g.(51915094_51917873)_(51930876_51934254)dup
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NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)
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rs1772559884
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NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
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NM_138694.4(PKHD1):c.10230A>G (p.Gln3410=)
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rs1349645712
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NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
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rs372394177
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NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
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NM_138694.4(PKHD1):c.10331T>C (p.Val3444Ala)
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rs763589152
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NM_138694.4(PKHD1):c.10746A>G (p.Glu3582=)
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rs886038724
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NM_138694.4(PKHD1):c.11040C>T (p.Ser3680=)
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rs1772372632
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NM_138694.4(PKHD1):c.1124G>A (p.Arg375Gln)
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NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)
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rs76572975
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NM_138694.4(PKHD1):c.11665+40dup
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rs35521028
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NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
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NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC
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rs1554217929
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NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg)
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rs140458350
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NM_138694.4(PKHD1):c.1408G>T (p.Gly470Cys)
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NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
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rs141790557
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NM_138694.4(PKHD1):c.1875G>T (p.Leu625=)
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rs886038725
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NM_138694.4(PKHD1):c.1919A>G (p.Lys640Arg)
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rs1807314191
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NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser)
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rs1806602099
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NM_138694.4(PKHD1):c.2209T>A (p.Ser737Thr)
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NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
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rs777183511
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NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
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rs9474136
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NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg)
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rs1562220663
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NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala)
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rs373974753
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NM_138694.4(PKHD1):c.2822-40G>A
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rs768953527
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NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro)
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rs770882723
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NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)
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rs536715802
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NM_138694.4(PKHD1):c.3349A>G (p.Ile1117Val)
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NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr)
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rs2128144732
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NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=)
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rs577832997
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NM_138694.4(PKHD1):c.448+31T>C
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rs760979377
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NM_138694.4(PKHD1):c.449-15TTC[2]
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rs545812620
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NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
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rs913487671
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NM_138694.4(PKHD1):c.5908G>C (p.Gly1970Arg)
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rs794727592
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NM_138694.4(PKHD1):c.5953G>A (p.Ala1985Thr)
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rs2127769211
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NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
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NM_138694.4(PKHD1):c.6333-8_6333-7del
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rs138161138
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NM_138694.4(PKHD1):c.6490+3A>G
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NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
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NM_138694.4(PKHD1):c.733C>T (p.Leu245=)
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rs111809699
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NM_138694.4(PKHD1):c.7486+41C>A
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rs982874
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NM_138694.4(PKHD1):c.7734-27_7734-26dup
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rs201176305
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NM_138694.4(PKHD1):c.7734-27dup
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rs201176305
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NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu)
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rs1160054242
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NM_138694.4(PKHD1):c.779-25dup
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rs5876252
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NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
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NM_138694.4(PKHD1):c.8164A>C (p.Thr2722Pro)
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rs1268020662
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NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp)
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rs886061615
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NM_138694.4(PKHD1):c.8798-23del
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rs756671608
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NM_138694.4(PKHD1):c.893_895del (p.Asp298_Ile299delinsVal)
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NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
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NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
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rs146649803
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