NM_138694.4(PKHD1):c.*374T>C
|
rs2784201
|
0.99624
|
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.*2564A>G
|
rs1414504
|
0.88144
|
NM_138694.4(PKHD1):c.8798-19A>C
|
rs1326605
|
0.73187
|
NM_138694.4(PKHD1):c.*3026A>G
|
rs2784199
|
0.70489
|
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.*2208A>G
|
rs2784200
|
0.12333
|
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.8798-19del
|
rs112525785
|
0.05493
|
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.*2331C>T
|
rs76762827
|
0.04028
|
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.*3025C>T
|
rs2771012
|
0.02192
|
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.*3044A>T
|
rs41273712
|
0.01744
|
NM_138694.4(PKHD1):c.*1525G>A
|
rs6941633
|
0.01740
|
NM_138694.4(PKHD1):c.*636C>A
|
rs41273718
|
0.01441
|
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.*1637G>A
|
rs77227361
|
0.01221
|
NM_138694.4(PKHD1):c.*2082A>G
|
rs79635571
|
0.01218
|
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.*2967T>A
|
rs41273714
|
0.00582
|
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.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.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.*232T>G
|
rs147372425
|
0.00294
|
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.1950G>A (p.Arg650=)
|
rs143226202
|
0.00257
|
NM_138694.4(PKHD1):c.*1005C>T
|
rs41273716
|
0.00230
|
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.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
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.*1083G>T
|
rs376414551
|
0.00146
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
NM_138694.4(PKHD1):c.*1597G>A
|
rs116233809
|
0.00137
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln)
|
rs185941281
|
0.00125
|
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=)
|
rs146224907
|
0.00115
|
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.*308C>T
|
rs570760306
|
0.00112
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)
|
rs114237522
|
0.00099
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
NM_138694.4(PKHD1):c.3097+15G>T
|
rs376878007
|
0.00093
|
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=)
|
rs145960781
|
0.00088
|
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met)
|
rs200654041
|
0.00087
|
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.7912-5T>G
|
rs371510537
|
0.00075
|
NM_138694.4(PKHD1):c.5752-9G>A
|
rs184441390
|
0.00074
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
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.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)
|
rs142896856
|
0.00061
|
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.3627G>A (p.Leu1209=)
|
rs182216709
|
0.00060
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
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.1675C>T (p.Arg559Trp)
|
rs141384205
|
0.00055
|
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.11311-19C>G
|
rs181140024
|
0.00052
|
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.10531G>A (p.Gly3511Arg)
|
rs112030234
|
0.00049
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser)
|
rs146102132
|
0.00048
|
NM_138694.4(PKHD1):c.9154G>T (p.Asp3052Tyr)
|
rs765526
|
0.00048
|
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)
|
rs183674012
|
0.00048
|
NM_138694.4(PKHD1):c.3411G>A (p.Thr1137=)
|
rs138350291
|
0.00047
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
NM_138694.4(PKHD1):c.11310+13A>G
|
rs191991777
|
0.00043
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
NM_138694.4(PKHD1):c.9496G>C (p.Glu3166Gln)
|
rs201480892
|
0.00041
|
NM_138694.4(PKHD1):c.*1450T>A
|
rs755494395
|
0.00040
|
NM_138694.4(PKHD1):c.129T>C (p.Asp43=)
|
rs201195801
|
0.00040
|
NM_138694.4(PKHD1):c.7911+19T>C
|
rs201017366
|
0.00040
|
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)
|
rs147051900
|
0.00039
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr)
|
rs144905283
|
0.00039
|
NM_138694.4(PKHD1):c.7215+13G>T
|
rs562612275
|
0.00039
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_138694.4(PKHD1):c.5381-12T>C
|
rs143682303
|
0.00037
|
NM_138694.4(PKHD1):c.333C>T (p.Phe111=)
|
rs145815264
|
0.00036
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)
|
rs144042993
|
0.00035
|
NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro)
|
rs144365187
|
0.00033
|
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)
|
rs149553146
|
0.00033
|
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)
|
rs142205860
|
0.00032
|
NM_138694.4(PKHD1):c.1643A>G (p.Lys548Arg)
|
rs145163993
|
0.00030
|
NM_138694.4(PKHD1):c.*1217G>A
|
rs886061605
|
0.00029
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)
|
rs146468152
|
0.00029
|
NM_138694.4(PKHD1):c.8174-19A>T
|
rs758233215
|
0.00028
|
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=)
|
rs147584295
|
0.00027
|
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)
|
rs149427926
|
0.00026
|
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.6710G>A (p.Arg2237Lys)
|
rs144673879
|
0.00025
|
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)
|
rs199621305
|
0.00025
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
|
rs374650666
|
0.00024
|
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=)
|
rs148817026
|
0.00024
|
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly)
|
rs148901752
|
0.00023
|
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)
|
rs140781915
|
0.00023
|
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)
|
rs201812542
|
0.00022
|
NM_138694.4(PKHD1):c.3098-13G>A
|
rs371242359
|
0.00022
|
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.8141G>A (p.Arg2714Gln)
|
rs371665285
|
0.00021
|
NM_138694.4(PKHD1):c.8554+3A>G
|
rs370312392
|
0.00021
|
NM_138694.4(PKHD1):c.2821+10G>A
|
rs367619854
|
0.00020
|
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu)
|
rs139838478
|
0.00020
|
NM_138694.4(PKHD1):c.4540G>C (p.Asp1514His)
|
rs147098776
|
0.00020
|
NM_138694.4(PKHD1):c.528-18A>T
|
rs200804428
|
0.00020
|
NM_138694.4(PKHD1):c.5777G>A (p.Arg1926Gln)
|
rs199598712
|
0.00020
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
0.00020
|
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=)
|
rs368101035
|
0.00020
|
NM_138694.4(PKHD1):c.7734-6C>A
|
rs367564272
|
0.00020
|
NM_138694.4(PKHD1):c.*2922T>C
|
rs146856769
|
0.00019
|
NM_138694.4(PKHD1):c.11737C>T (p.Arg3913Cys)
|
rs151198392
|
0.00019
|
NM_138694.4(PKHD1):c.1603-19T>A
|
rs201996881
|
0.00019
|
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp)
|
rs143867809
|
0.00019
|
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=)
|
rs182468850
|
0.00019
|
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val)
|
rs78361537
|
0.00019
|
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=)
|
rs149310653
|
0.00019
|
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys)
|
rs200986136
|
0.00018
|
NM_138694.4(PKHD1):c.6490+8A>G
|
rs201984652
|
0.00018
|
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys)
|
rs137972270
|
0.00017
|
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=)
|
rs150202544
|
0.00017
|
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln)
|
rs139063552
|
0.00017
|
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)
|
rs200679577
|
0.00017
|
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=)
|
rs755688912
|
0.00017
|
NM_138694.4(PKHD1):c.831C>T (p.Ile277=)
|
rs142678486
|
0.00017
|
NM_138694.4(PKHD1):c.*1381G>C
|
rs573219087
|
0.00016
|
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn)
|
rs140419956
|
0.00016
|
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr)
|
rs142536551
|
0.00016
|
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)
|
rs200497761
|
0.00016
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)
|
rs146745096
|
0.00016
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
0.00016
|
NM_138694.4(PKHD1):c.8951-19G>A
|
rs200025399
|
0.00016
|
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
|
rs145141656
|
0.00016
|
NM_138694.4(PKHD1):c.9999-4A>G
|
rs1255927856
|
0.00016
|
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)
|
rs145219220
|
0.00015
|
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)
|
rs199900211
|
0.00015
|
NM_138694.4(PKHD1):c.588G>A (p.Arg196=)
|
rs201773743
|
0.00015
|
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)
|
rs199897497
|
0.00015
|
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)
|
rs201066635
|
0.00015
|
NM_138694.4(PKHD1):c.*2976C>T
|
rs145040289
|
0.00014
|
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)
|
rs776570716
|
0.00014
|
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=)
|
rs147915980
|
0.00014
|
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp)
|
rs756825030
|
0.00014
|
NM_138694.4(PKHD1):c.812T>A (p.Leu271His)
|
rs750887164
|
0.00014
|
NM_138694.4(PKHD1):c.977-7C>G
|
rs1054774956
|
0.00014
|
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val)
|
rs145745489
|
0.00014
|
NM_138694.4(PKHD1):c.*934G>T
|
rs558281379
|
0.00013
|
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly)
|
rs539832575
|
0.00013
|
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys)
|
rs148300854
|
0.00013
|
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
|
rs192769565
|
0.00013
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
NM_138694.4(PKHD1):c.10797C>T (p.His3599=)
|
rs577357613
|
0.00012
|
NM_138694.4(PKHD1):c.11420A>C (p.Gln3807Pro)
|
rs201300259
|
0.00012
|
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=)
|
rs557162970
|
0.00012
|
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)
|
rs201769990
|
0.00012
|
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile)
|
rs141972092
|
0.00012
|
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)
|
rs376709130
|
0.00012
|
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)
|
rs200730851
|
0.00012
|
NM_138694.4(PKHD1):c.7911+5C>A
|
rs199953233
|
0.00012
|
NM_138694.4(PKHD1):c.*3171A>G
|
rs149167096
|
0.00011
|
NM_138694.4(PKHD1):c.-214G>A
|
rs886061625
|
0.00011
|
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His)
|
rs371329493
|
0.00011
|
NM_138694.4(PKHD1):c.11175-10T>G
|
rs373424543
|
0.00011
|
NM_138694.4(PKHD1):c.11870G>A (p.Arg3957His)
|
rs372357820
|
0.00011
|
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=)
|
rs199635188
|
0.00011
|
NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp)
|
rs199858063
|
0.00011
|
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)
|
rs374233100
|
0.00011
|
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)
|
rs138242579
|
0.00011
|
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu)
|
rs368467585
|
0.00011
|
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)
|
rs751084512
|
0.00011
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00011
|
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=)
|
rs199559837
|
0.00011
|
NM_138694.4(PKHD1):c.8107+8T>G
|
rs368339881
|
0.00011
|
NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp)
|
rs201254195
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_138694.4(PKHD1):c.*3345T>A
|
rs530251992
|
0.00010
|
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg)
|
rs368351830
|
0.00010
|
NM_138694.4(PKHD1):c.1694-10C>G
|
rs745911880
|
0.00010
|
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His)
|
rs141177165
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys)
|
rs200599637
|
0.00010
|
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)
|
rs148497044
|
0.00010
|
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)
|
rs750190287
|
0.00010
|
NM_138694.4(PKHD1):c.6795T>C (p.His2265=)
|
rs186227053
|
0.00010
|
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp)
|
rs372340268
|
0.00010
|
NM_138694.4(PKHD1):c.*1244G>A
|
rs917933676
|
0.00009
|
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)
|
rs562503637
|
0.00009
|
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val)
|
rs139742511
|
0.00009
|
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)
|
rs137852950
|
0.00009
|
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu)
|
rs780849635
|
0.00009
|
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=)
|
rs750130747
|
0.00009
|
NM_138694.4(PKHD1):c.1512+9C>G
|
rs774440496
|
0.00009
|
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.2444A>G (p.Gln815Arg)
|
rs145789167
|
0.00009
|
NM_138694.4(PKHD1):c.2607C>T (p.Asn869=)
|
rs147051973
|
0.00009
|
NM_138694.4(PKHD1):c.282-3C>T
|
rs535210707
|
0.00009
|
NM_138694.4(PKHD1):c.339A>T (p.Gly113=)
|
rs539738170
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_138694.4(PKHD1):c.6564C>T (p.Ile2188=)
|
rs767464690
|
0.00009
|
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=)
|
rs373795139
|
0.00009
|
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His)
|
rs772219802
|
0.00009
|
NM_138694.4(PKHD1):c.7285G>A (p.Val2429Ile)
|
rs148284341
|
0.00009
|
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=)
|
rs777017196
|
0.00009
|
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
|
rs760710708
|
0.00009
|
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
|
rs371508721
|
0.00009
|
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)
|
rs754654892
|
0.00009
|
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn)
|
rs760056303
|
0.00008
|
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=)
|
rs35403035
|
0.00008
|
NM_138694.4(PKHD1):c.1487G>A (p.Arg496Gln)
|
rs181391485
|
0.00008
|
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=)
|
rs142922408
|
0.00008
|
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)
|
rs373255125
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_138694.4(PKHD1):c.708-5C>T
|
rs371844893
|
0.00008
|
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His)
|
rs373643848
|
0.00008
|
NM_138694.4(PKHD1):c.*822G>A
|
rs974589280
|
0.00007
|
NM_138694.4(PKHD1):c.10413C>G (p.Val3471=)
|
rs147440122
|
0.00007
|
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.1576A>G (p.Ile526Val)
|
rs142608481
|
0.00007
|
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=)
|
rs751244001
|
0.00007
|
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile)
|
rs565045703
|
0.00007
|
NM_138694.4(PKHD1):c.3629-15G>A
|
rs375870003
|
0.00007
|
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=)
|
rs369801937
|
0.00007
|
NM_138694.4(PKHD1):c.711A>T (p.Ser237=)
|
rs138184195
|
0.00007
|
NM_138694.4(PKHD1):c.8440+10G>C
|
rs376658460
|
0.00007
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
NM_138694.4(PKHD1):c.*1154A>G
|
rs548889112
|
0.00006
|
NM_138694.4(PKHD1):c.*220A>G
|
rs751649423
|
0.00006
|
NM_138694.4(PKHD1):c.*2443A>G
|
rs145917681
|
0.00006
|
NM_138694.4(PKHD1):c.*2716C>G
|
rs1311498221
|
0.00006
|
NM_138694.4(PKHD1):c.*3138G>A
|
rs894857837
|
0.00006
|
NM_138694.4(PKHD1):c.*918T>A
|
rs544051183
|
0.00006
|
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg)
|
rs761871204
|
0.00006
|
NM_138694.4(PKHD1):c.11318G>T (p.Arg3773Ile)
|
rs200114268
|
0.00006
|
NM_138694.4(PKHD1):c.11398+16G>A
|
rs375337813
|
0.00006
|
NM_138694.4(PKHD1):c.11506+14G>C
|
rs371687822
|
0.00006
|
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
NM_138694.4(PKHD1):c.171A>G (p.Gln57=)
|
rs543640706
|
0.00006
|
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)
|
rs560133266
|
0.00006
|
NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys)
|
rs200918134
|
0.00006
|
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=)
|
rs147826962
|
0.00006
|
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=)
|
rs1443176251
|
0.00006
|
NM_138694.4(PKHD1):c.2280-9G>A
|
rs376576760
|
0.00006
|
NM_138694.4(PKHD1):c.2448C>T (p.Leu816=)
|
rs771790015
|
0.00006
|
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)
|
rs199768081
|
0.00006
|
NM_138694.4(PKHD1):c.3628+9C>A
|
rs552339299
|
0.00006
|
NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp)
|
rs376121326
|
0.00006
|
NM_138694.4(PKHD1):c.3860T>G (p.Val1287Gly)
|
rs767229742
|
0.00006
|
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=)
|
rs775529923
|
0.00006
|
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)
|
rs200278368
|
0.00006
|
NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His)
|
rs151160618
|
0.00006
|
NM_138694.4(PKHD1):c.5538C>T (p.Cys1846=)
|
rs373244595
|
0.00006
|
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=)
|
rs141473212
|
0.00006
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly)
|
rs528966196
|
0.00006
|
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys)
|
rs751529187
|
0.00006
|
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys)
|
rs374132086
|
0.00006
|
NM_138694.4(PKHD1):c.7068G>A (p.Pro2356=)
|
rs200774031
|
0.00006
|
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp)
|
rs371830478
|
0.00006
|
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val)
|
rs146962673
|
0.00006
|
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)
|
rs201091083
|
0.00006
|
NM_138694.4(PKHD1):c.7887C>T (p.Asn2629=)
|
rs146083613
|
0.00006
|
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=)
|
rs748084543
|
0.00006
|
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)
|
rs374869252
|
0.00006
|
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)
|
rs144106341
|
0.00006
|
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
|
rs200432861
|
0.00006
|
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=)
|
rs201670044
|
0.00006
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
NM_138694.4(PKHD1):c.9665A>G (p.His3222Arg)
|
rs777989032
|
0.00006
|
NM_138694.4(PKHD1):c.10764A>G (p.Leu3588=)
|
rs143257954
|
0.00005
|
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)
|
rs557211301
|
0.00005
|
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=)
|
rs752509045
|
0.00005
|
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser)
|
rs374566843
|
0.00005
|
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg)
|
rs201824369
|
0.00005
|
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp)
|
rs567357782
|
0.00005
|
NM_138694.4(PKHD1):c.2184G>A (p.Leu728=)
|
rs926797825
|
0.00005
|
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=)
|
rs759939735
|
0.00005
|
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp)
|
rs148356158
|
0.00005
|
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln)
|
rs557773345
|
0.00005
|
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser)
|
rs149293970
|
0.00005
|
NM_138694.4(PKHD1):c.528-4C>T
|
rs761991923
|
0.00005
|
NM_138694.4(PKHD1):c.5963T>C (p.Ile1988Thr)
|
rs770492164
|
0.00005
|
NM_138694.4(PKHD1):c.607C>T (p.Pro203Ser)
|
rs777994980
|
0.00005
|
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile)
|
rs142552070
|
0.00005
|
NM_138694.4(PKHD1):c.6698G>A (p.Gly2233Asp)
|
rs763065348
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His)
|
rs372102850
|
0.00005
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
NM_138694.4(PKHD1):c.977-20G>A
|
rs753880972
|
0.00005
|
NM_138694.4(PKHD1):c.977-9G>A
|
rs372205619
|
0.00005
|
NM_138694.4(PKHD1):c.*1027G>A
|
rs960304347
|
0.00004
|
NM_138694.4(PKHD1):c.*2031A>G
|
rs886061597
|
0.00004
|
NM_138694.4(PKHD1):c.*780A>G
|
rs886061606
|
0.00004
|
NM_138694.4(PKHD1):c.10041A>G (p.Ala3347=)
|
rs139546793
|
0.00004
|
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val)
|
rs748863662
|
0.00004
|
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His)
|
rs143915416
|
0.00004
|
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu)
|
rs545701882
|
0.00004
|
NM_138694.4(PKHD1):c.10473C>T (p.Thr3491=)
|
rs772915495
|
0.00004
|
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys)
|
rs201534300
|
0.00004
|
NM_138694.4(PKHD1):c.1071T>C (p.Asn357=)
|
rs753662225
|
0.00004
|
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=)
|
rs754613918
|
0.00004
|
NM_138694.4(PKHD1):c.11226A>G (p.Ala3742=)
|
rs770933024
|
0.00004
|
NM_138694.4(PKHD1):c.11460C>A (p.Ile3820=)
|
rs763641339
|
0.00004
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
NM_138694.4(PKHD1):c.12162C>T (p.Cys4054=)
|
rs745888824
|
0.00004
|
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val)
|
rs781286941
|
0.00004
|
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)
|
rs557361225
|
0.00004
|
NM_138694.4(PKHD1):c.150T>G (p.Leu50=)
|
rs529214120
|
0.00004
|
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln)
|
rs757182803
|
0.00004
|
NM_138694.4(PKHD1):c.1693+9C>T
|
rs753648991
|
0.00004
|
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys)
|
rs199846197
|
0.00004
|
NM_138694.4(PKHD1):c.1837-10G>A
|
rs749163934
|
0.00004
|
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu)
|
rs886061620
|
0.00004
|
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=)
|
rs746441159
|
0.00004
|
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln)
|
rs577541526
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_138694.4(PKHD1):c.2538C>T (p.His846=)
|
rs775356491
|
0.00004
|
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His)
|
rs886042298
|
0.00004
|
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe)
|
rs398124482
|
0.00004
|
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln)
|
rs753169961
|
0.00004
|
NM_138694.4(PKHD1):c.306G>A (p.Glu102=)
|
rs759126073
|
0.00004
|
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His)
|
rs201123815
|
0.00004
|
NM_138694.4(PKHD1):c.3452C>T (p.Pro1151Leu)
|
rs574099162
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_138694.4(PKHD1):c.3806T>C (p.Val1269Ala)
|
rs1398646157
|
0.00004
|
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr)
|
rs536456650
|
0.00004
|
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys)
|
rs368974211
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg)
|
rs146649894
|
0.00004
|
NM_138694.4(PKHD1):c.4363G>A (p.Ala1455Thr)
|
rs760665951
|
0.00004
|
NM_138694.4(PKHD1):c.4364C>A (p.Ala1455Asp)
|
rs775246362
|
0.00004
|
NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met)
|
rs201858937
|
0.00004
|
NM_138694.4(PKHD1):c.462T>C (p.His154=)
|
rs779580027
|
0.00004
|
NM_138694.4(PKHD1):c.53-5T>A
|
rs760842585
|
0.00004
|
NM_138694.4(PKHD1):c.5535A>G (p.Gln1845=)
|
rs140036742
|
0.00004
|
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)
|
rs1412045164
|
0.00004
|
NM_138694.4(PKHD1):c.5838C>A (p.Val1946=)
|
rs769415024
|
0.00004
|
NM_138694.4(PKHD1):c.5958C>T (p.His1986=)
|
rs745388926
|
0.00004
|
NM_138694.4(PKHD1):c.630T>G (p.Leu210=)
|
rs950789431
|
0.00004
|
NM_138694.4(PKHD1):c.6479A>G (p.Asn2160Ser)
|
rs577306911
|
0.00004
|
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr)
|
rs375436864
|
0.00004
|
NM_138694.4(PKHD1):c.6626T>C (p.Leu2209Ser)
|
rs757627773
|
0.00004
|
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=)
|
rs747038764
|
0.00004
|
NM_138694.4(PKHD1):c.6809-8G>C
|
rs1436176425
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly)
|
rs746000400
|
0.00004
|
NM_138694.4(PKHD1):c.7591C>T (p.Leu2531=)
|
rs150559372
|
0.00004
|
NM_138694.4(PKHD1):c.75T>C (p.Ile25=)
|
rs138600204
|
0.00004
|
NM_138694.4(PKHD1):c.7665C>T (p.Ser2555=)
|
rs373409786
|
0.00004
|
NM_138694.4(PKHD1):c.8173+12C>T
|
rs368093611
|
0.00004
|
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=)
|
rs749740610
|
0.00004
|
NM_138694.4(PKHD1):c.8494G>T (p.Ala2832Ser)
|
rs779751632
|
0.00004
|
NM_138694.4(PKHD1):c.8554+11A>G
|
rs753255216
|
0.00004
|
NM_138694.4(PKHD1):c.8886C>T (p.Asp2962=)
|
rs138464473
|
0.00004
|
NM_138694.4(PKHD1):c.9063C>T (p.His3021=)
|
rs1386956354
|
0.00004
|
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg)
|
rs146550270
|
0.00004
|
NM_138694.4(PKHD1):c.9504G>A (p.Glu3168=)
|
rs889649722
|
0.00004
|
NM_138694.4(PKHD1):c.*1257G>A
|
rs886061604
|
0.00003
|
NM_138694.4(PKHD1):c.*3444G>A
|
rs772732172
|
0.00003
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn)
|
rs778583323
|
0.00003
|
NM_138694.4(PKHD1):c.10350C>T (p.Cys3450=)
|
rs765652131
|
0.00003
|
NM_138694.4(PKHD1):c.10626C>G (p.Leu3542=)
|
rs756511422
|
0.00003
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)
|
rs137852948
|
0.00003
|
NM_138694.4(PKHD1):c.10924A>G (p.Met3642Val)
|
rs747283913
|
0.00003
|
NM_138694.4(PKHD1):c.10956A>C (p.Pro3652=)
|
rs777523730
|
0.00003
|
NM_138694.4(PKHD1):c.11131G>A (p.Gly3711Arg)
|
rs767963628
|
0.00003
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_138694.4(PKHD1):c.11398+10G>T
|
rs369892238
|
0.00003
|
NM_138694.4(PKHD1):c.11506+7T>G
|
rs1204730138
|
0.00003
|
NM_138694.4(PKHD1):c.11507-8C>T
|
rs755710579
|
0.00003
|
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
|
rs754626014
|
0.00003
|
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu)
|
rs775014599
|
0.00003
|
NM_138694.4(PKHD1):c.11818A>T (p.Asn3940Tyr)
|
rs757479262
|
0.00003
|
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=)
|
rs1165946143
|
0.00003
|
NM_138694.4(PKHD1):c.11931C>T (p.Ser3977=)
|
rs368081890
|
0.00003
|
NM_138694.4(PKHD1):c.12021C>G (p.Leu4007=)
|
rs761543328
|
0.00003
|
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp)
|
rs375680275
|
0.00003
|
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu)
|
rs758871283
|
0.00003
|
NM_138694.4(PKHD1):c.1225A>C (p.Arg409=)
|
rs187962806
|
0.00003
|
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=)
|
rs1252381398
|
0.00003
|
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala)
|
rs144526315
|
0.00003
|
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys)
|
rs727504094
|
0.00003
|
NM_138694.4(PKHD1):c.131-16C>T
|
rs1174461021
|
0.00003
|
NM_138694.4(PKHD1):c.1338G>A (p.Leu446=)
|
rs537958378
|
0.00003
|
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp)
|
rs139770251
|
0.00003
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly)
|
rs145855006
|
0.00003
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp)
|
rs749170990
|
0.00003
|
NM_138694.4(PKHD1):c.2407+5A>G
|
rs767994974
|
0.00003
|
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met)
|
rs778864835
|
0.00003
|
NM_138694.4(PKHD1):c.262G>C (p.Val88Leu)
|
rs374447352
|
0.00003
|
NM_138694.4(PKHD1):c.288G>A (p.Val96=)
|
rs755771472
|
0.00003
|
NM_138694.4(PKHD1):c.3012T>C (p.Leu1004=)
|
rs753011152
|
0.00003
|
NM_138694.4(PKHD1):c.3137G>C (p.Gly1046Ala)
|
rs374106769
|
0.00003
|
NM_138694.4(PKHD1):c.3366C>T (p.Gly1122=)
|
rs145979687
|
0.00003
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=)
|
rs778487042
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=)
|
rs758960742
|
0.00003
|
NM_138694.4(PKHD1):c.3704G>A (p.Arg1235Gln)
|
rs567239866
|
0.00003
|
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn)
|
rs779094064
|
0.00003
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
NM_138694.4(PKHD1):c.3846T>G (p.Pro1282=)
|
rs760349514
|
0.00003
|
NM_138694.4(PKHD1):c.4011T>G (p.Asp1337Glu)
|
rs760893545
|
0.00003
|
NM_138694.4(PKHD1):c.4039G>A (p.Val1347Met)
|
rs201087689
|
0.00003
|
NM_138694.4(PKHD1):c.4380C>T (p.Asn1460=)
|
rs371934160
|
0.00003
|
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg)
|
rs780740862
|
0.00003
|
NM_138694.4(PKHD1):c.5385C>T (p.Ser1795=)
|
rs772277538
|
0.00003
|
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly)
|
rs377674026
|
0.00003
|
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr)
|
rs142346881
|
0.00003
|
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys)
|
rs151108325
|
0.00003
|
NM_138694.4(PKHD1):c.708-4G>A
|
rs748018742
|
0.00003
|
NM_138694.4(PKHD1):c.7192T>G (p.Trp2398Gly)
|
rs762553057
|
0.00003
|
NM_138694.4(PKHD1):c.7237C>T (p.Arg2413Cys)
|
rs553534988
|
0.00003
|
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr)
|
rs747072396
|
0.00003
|
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)
|
rs1366295189
|
0.00003
|
NM_138694.4(PKHD1):c.7575A>C (p.Glu2525Asp)
|
rs756456332
|
0.00003
|
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn)
|
rs142487082
|
0.00003
|
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val)
|
rs565528098
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_138694.4(PKHD1):c.7956G>T (p.Leu2652=)
|
rs375920156
|
0.00003
|
NM_138694.4(PKHD1):c.8325A>C (p.Thr2775=)
|
rs753727582
|
0.00003
|
NM_138694.4(PKHD1):c.8410A>G (p.Met2804Val)
|
rs137909186
|
0.00003
|
NM_138694.4(PKHD1):c.874A>G (p.Ile292Val)
|
rs367590965
|
0.00003
|
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=)
|
rs781630151
|
0.00003
|
NM_138694.4(PKHD1):c.9261G>A (p.Lys3087=)
|
rs763061534
|
0.00003
|
NM_138694.4(PKHD1):c.9338del (p.Ser3113fs)
|
rs1388716999
|
0.00003
|
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser)
|
rs1343246818
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_138694.4(PKHD1):c.*1001A>G
|
rs926038607
|
0.00002
|
NM_138694.4(PKHD1):c.*2580C>A
|
rs886061595
|
0.00002
|
NM_138694.4(PKHD1):c.*3323T>C
|
rs886061592
|
0.00002
|
NM_138694.4(PKHD1):c.-30A>G
|
rs767584874
|
0.00002
|
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=)
|
rs774349380
|
0.00002
|
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=)
|
rs773270584
|
0.00002
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=)
|
rs1162292670
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.10641A>G (p.Leu3547=)
|
rs752895106
|
0.00002
|
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=)
|
rs770308751
|
0.00002
|
NM_138694.4(PKHD1):c.10830C>T (p.Ala3610=)
|
rs1581891327
|
0.00002
|
NM_138694.4(PKHD1):c.10881C>T (p.Cys3627=)
|
rs753883924
|
0.00002
|
NM_138694.4(PKHD1):c.108G>A (p.Thr36=)
|
rs779123303
|
0.00002
|
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter)
|
rs765934021
|
0.00002
|
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)
|
rs1303599332
|
0.00002
|
NM_138694.4(PKHD1):c.11237T>G (p.Leu3746Arg)
|
rs1320401077
|
0.00002
|
NM_138694.4(PKHD1):c.11310+19C>T
|
rs767496904
|
0.00002
|
NM_138694.4(PKHD1):c.11539G>T (p.Ala3847Ser)
|
rs769135174
|
0.00002
|
NM_138694.4(PKHD1):c.11786-9T>C
|
rs1386151581
|
0.00002
|
NM_138694.4(PKHD1):c.11916T>C (p.Thr3972=)
|
rs1473205243
|
0.00002
|
NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile)
|
rs773044015
|
0.00002
|
NM_138694.4(PKHD1):c.1209T>C (p.Ser403=)
|
rs749529299
|
0.00002
|
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=)
|
rs1268794606
|
0.00002
|
NM_138694.4(PKHD1):c.12155C>T (p.Ala4052Val)
|
rs528907395
|
0.00002
|
NM_138694.4(PKHD1):c.1240G>A (p.Val414Met)
|
rs1458077668
|
0.00002
|
NM_138694.4(PKHD1):c.1548T>C (p.Leu516=)
|
rs1562249496
|
0.00002
|
NM_138694.4(PKHD1):c.1737G>A (p.Thr579=)
|
rs765871629
|
0.00002
|
NM_138694.4(PKHD1):c.1796C>T (p.Pro599Leu)
|
rs199941159
|
0.00002
|
NM_138694.4(PKHD1):c.1803C>T (p.Ala601=)
|
rs150333445
|
0.00002
|
NM_138694.4(PKHD1):c.2013C>T (p.Phe671=)
|
rs1047215529
|
0.00002
|
NM_138694.4(PKHD1):c.2130A>C (p.Thr710=)
|
rs751554608
|
0.00002
|
NM_138694.4(PKHD1):c.2133C>T (p.Asn711=)
|
rs766225439
|
0.00002
|
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=)
|
rs886043022
|
0.00002
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)
|
rs190315828
|
0.00002
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=)
|
rs140920157
|
0.00002
|
NM_138694.4(PKHD1):c.2670A>T (p.Gly890=)
|
rs751304560
|
0.00002
|
NM_138694.4(PKHD1):c.2691G>A (p.Leu897=)
|
rs1359342866
|
0.00002
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_138694.4(PKHD1):c.3005C>T (p.Ser1002Phe)
|
rs760793047
|
0.00002
|
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val)
|
rs774570785
|
0.00002
|
NM_138694.4(PKHD1):c.3561-9C>T
|
rs374850251
|
0.00002
|
NM_138694.4(PKHD1):c.3629-16C>T
|
rs776260404
|
0.00002
|
NM_138694.4(PKHD1):c.3643A>T (p.Ser1215Cys)
|
rs752105357
|
0.00002
|
NM_138694.4(PKHD1):c.3775G>A (p.Asp1259Asn)
|
rs894304918
|
0.00002
|
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro)
|
rs199643308
|
0.00002
|
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val)
|
rs747436583
|
0.00002
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
0.00002
|
NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu)
|
rs200733734
|
0.00002
|
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
NM_138694.4(PKHD1):c.4200G>A (p.Ser1400=)
|
rs767936065
|
0.00002
|
NM_138694.4(PKHD1):c.456A>G (p.Leu152=)
|
rs1048675346
|
0.00002
|
NM_138694.4(PKHD1):c.5283T>G (p.Ser1761=)
|
rs759156564
|
0.00002
|
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=)
|
rs886061618
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_138694.4(PKHD1):c.5499G>A (p.Ser1833=)
|
rs557919334
|
0.00002
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys)
|
rs767379405
|
0.00002
|
NM_138694.4(PKHD1):c.5601-7G>A
|
rs752016211
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
NM_138694.4(PKHD1):c.6122-13C>T
|
rs757378511
|
0.00002
|
NM_138694.4(PKHD1):c.624T>C (p.His208=)
|
rs767511678
|
0.00002
|
NM_138694.4(PKHD1):c.6300G>A (p.Gln2100=)
|
rs751405564
|
0.00002
|
NM_138694.4(PKHD1):c.6380T>G (p.Ile2127Ser)
|
rs372932771
|
0.00002
|
NM_138694.4(PKHD1):c.6474G>A (p.Glu2158=)
|
rs758723076
|
0.00002
|
NM_138694.4(PKHD1):c.663C>T (p.Tyr221=)
|
rs746417768
|
0.00002
|
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val)
|
rs755286726
|
0.00002
|
NM_138694.4(PKHD1):c.6819G>A (p.Thr2273=)
|
rs201398262
|
0.00002
|
NM_138694.4(PKHD1):c.6996+7T>A
|
rs754852008
|
0.00002
|
NM_138694.4(PKHD1):c.7216-5T>C
|
rs761204394
|
0.00002
|
NM_138694.4(PKHD1):c.7737G>A (p.Ala2579=)
|
rs759139294
|
0.00002
|
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn)
|
rs749431123
|
0.00002
|
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=)
|
rs753436694
|
0.00002
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
NM_138694.4(PKHD1):c.8036T>C (p.Leu2679Pro)
|
rs200129776
|
0.00002
|
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr)
|
rs368696503
|
0.00002
|
NM_138694.4(PKHD1):c.8313C>T (p.Val2771=)
|
rs368995583
|
0.00002
|
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val)
|
rs762313489
|
0.00002
|
NM_138694.4(PKHD1):c.8373C>T (p.Phe2791=)
|
rs769127954
|
0.00002
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg)
|
rs771108371
|
0.00002
|
NM_138694.4(PKHD1):c.8554+5G>C
|
rs1402749750
|
0.00002
|
NM_138694.4(PKHD1):c.873C>T (p.Thr291=)
|
rs769773725
|
0.00002
|
NM_138694.4(PKHD1):c.8811C>T (p.Val2937=)
|
rs752973353
|
0.00002
|
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile)
|
rs749794881
|
0.00002
|
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)
|
rs757148837
|
0.00002
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_138694.4(PKHD1):c.9282C>T (p.Asn3094=)
|
rs113402912
|
0.00002
|
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala)
|
rs890884615
|
0.00002
|
NM_138694.4(PKHD1):c.9468T>C (p.Gly3156=)
|
rs776397936
|
0.00002
|
NM_138694.4(PKHD1):c.9696T>C (p.Ala3232=)
|
rs368588369
|
0.00002
|
NM_138694.4(PKHD1):c.978C>G (p.Gly326=)
|
rs759233307
|
0.00002
|
NM_138694.4(PKHD1):c.9829+18A>G
|
rs766181065
|
0.00002
|
NM_138694.4(PKHD1):c.9829+7T>C
|
rs370995444
|
0.00002
|
NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys)
|
rs763499782
|
0.00002
|
NM_138694.4(PKHD1):c.*1376A>G
|
rs886061602
|
0.00001
|
NM_138694.4(PKHD1):c.*1559T>C
|
rs546309551
|
0.00001
|
NM_138694.4(PKHD1):c.*1789G>A
|
rs763964515
|
0.00001
|
NM_138694.4(PKHD1):c.*1933G>A
|
rs886061598
|
0.00001
|
NM_138694.4(PKHD1):c.*2086A>G
|
rs569538414
|
0.00001
|
NM_138694.4(PKHD1):c.*2201G>A
|
rs535226662
|
0.00001
|
NM_138694.4(PKHD1):c.*2304_*2305insA
|
rs886061596
|
0.00001
|
NM_138694.4(PKHD1):c.*27G>A
|
rs764352165
|
0.00001
|
NM_138694.4(PKHD1):c.*3030A>G
|
rs1277165962
|
0.00001
|
NM_138694.4(PKHD1):c.*3269C>A
|
rs886061593
|
0.00001
|
NM_138694.4(PKHD1):c.-223G>A
|
rs886061626
|
0.00001
|
NM_138694.4(PKHD1):c.1002T>C (p.Val334=)
|
rs1284626970
|
0.00001
|
NM_138694.4(PKHD1):c.10056T>C (p.Tyr3352=)
|
rs1440812247
|
0.00001
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.10083C>G (p.Ala3361=)
|
rs1421801495
|
0.00001
|
NM_138694.4(PKHD1):c.10156+9T>C
|
rs748020913
|
0.00001
|
NM_138694.4(PKHD1):c.1017G>A (p.Glu339=)
|
rs777204543
|
0.00001
|
NM_138694.4(PKHD1):c.10191A>G (p.Gln3397=)
|
rs1431172923
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_138694.4(PKHD1):c.10236C>T (p.Val3412=)
|
rs758252697
|
0.00001
|
NM_138694.4(PKHD1):c.10275G>A (p.Gln3425=)
|
rs1207558563
|
0.00001
|
NM_138694.4(PKHD1):c.10293A>T (p.Val3431=)
|
rs770105585
|
0.00001
|
NM_138694.4(PKHD1):c.10297G>A (p.Val3433Met)
|
rs762103009
|
0.00001
|
NM_138694.4(PKHD1):c.10302T>G (p.Thr3434=)
|
rs776512983
|
0.00001
|
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=)
|
rs375770253
|
0.00001
|
NM_138694.4(PKHD1):c.10428A>G (p.Gln3476=)
|
rs765511213
|
0.00001
|
NM_138694.4(PKHD1):c.10456T>C (p.Leu3486=)
|
rs1466831280
|
0.00001
|
NM_138694.4(PKHD1):c.10470T>C (p.Ser3490=)
|
rs770611675
|
0.00001
|
NM_138694.4(PKHD1):c.10542T>C (p.Phe3514=)
|
rs1232537845
|
0.00001
|
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=)
|
rs562160590
|
0.00001
|
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro)
|
rs769773637
|
0.00001
|
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser)
|
rs886061612
|
0.00001
|
NM_138694.4(PKHD1):c.10590T>C (p.Ser3530=)
|
rs894579480
|
0.00001
|
NM_138694.4(PKHD1):c.10655C>T (p.Pro3552Leu)
|
rs1002017976
|
0.00001
|
NM_138694.4(PKHD1):c.10668C>T (p.Arg3556=)
|
rs1222689408
|
0.00001
|
NM_138694.4(PKHD1):c.106A>G (p.Thr36Ala)
|
rs758858303
|
0.00001
|
NM_138694.4(PKHD1):c.10806T>G (p.Pro3602=)
|
rs775071691
|
0.00001
|
NM_138694.4(PKHD1):c.10809C>T (p.Gly3603=)
|
rs760590505
|
0.00001
|
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys)
|
rs557405366
|
0.00001
|
NM_138694.4(PKHD1):c.10866C>T (p.Cys3622=)
|
rs562381413
|
0.00001
|
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=)
|
rs1290859259
|
0.00001
|
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala)
|
rs201692162
|
0.00001
|
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=)
|
rs758082610
|
0.00001
|
NM_138694.4(PKHD1):c.1119-9A>C
|
rs1190120876
|
0.00001
|
NM_138694.4(PKHD1):c.11262G>A (p.Val3754=)
|
rs1770528501
|
0.00001
|
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly)
|
rs886061610
|
0.00001
|
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)
|
rs1229349983
|
0.00001
|
NM_138694.4(PKHD1):c.11290T>C (p.Leu3764=)
|
rs752554296
|
0.00001
|
NM_138694.4(PKHD1):c.11311-8A>G
|
rs201733977
|
0.00001
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.1131T>C (p.Ser377=)
|
rs754777157
|
0.00001
|
NM_138694.4(PKHD1):c.11398+12A>G
|
rs1005908067
|
0.00001
|
NM_138694.4(PKHD1):c.11398+2T>C
|
rs754038777
|
0.00001
|
NM_138694.4(PKHD1):c.11399-5T>C
|
rs770496334
|
0.00001
|
NM_138694.4(PKHD1):c.11421A>G (p.Gln3807=)
|
rs750180871
|
0.00001
|
NM_138694.4(PKHD1):c.11439C>T (p.Phe3813=)
|
rs761556765
|
0.00001
|
NM_138694.4(PKHD1):c.11465G>A (p.Gly3822Glu)
|
rs906560282
|
0.00001
|
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln)
|
rs775097870
|
0.00001
|
NM_138694.4(PKHD1):c.11507-5C>T
|
rs886061609
|
0.00001
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
NM_138694.4(PKHD1):c.11571G>A (p.Ser3857=)
|
rs749306806
|
0.00001
|
NM_138694.4(PKHD1):c.11572A>C (p.Thr3858Pro)
|
rs1180404523
|
0.00001
|
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)
|
rs747170980
|
0.00001
|
NM_138694.4(PKHD1):c.11665+7A>G
|
rs777858056
|
0.00001
|
NM_138694.4(PKHD1):c.11665+8G>C
|
rs774561158
|
0.00001
|
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)
|
rs1295732689
|
0.00001
|
NM_138694.4(PKHD1):c.11716C>T (p.His3906Tyr)
|
rs371652243
|
0.00001
|
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
|
rs761704401
|
0.00001
|
NM_138694.4(PKHD1):c.11754G>T (p.Gly3918=)
|
rs547420174
|
0.00001
|
NM_138694.4(PKHD1):c.11775G>T (p.Val3925=)
|
rs1581731432
|
0.00001
|
NM_138694.4(PKHD1):c.11786-10T>C
|
rs748739539
|
0.00001
|
NM_138694.4(PKHD1):c.11786-3C>A
|
rs746467881
|
0.00001
|
NM_138694.4(PKHD1):c.11786-8C>T
|
rs982301499
|
0.00001
|
NM_138694.4(PKHD1):c.11802C>T (p.Val3934=)
|
rs1766347218
|
0.00001
|
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=)
|
rs199564783
|
0.00001
|
NM_138694.4(PKHD1):c.1187G>A (p.Ser396Asn)
|
rs772507975
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.11895T>C (p.Ala3965=)
|
rs756198378
|
0.00001
|
NM_138694.4(PKHD1):c.1198T>C (p.Leu400=)
|
rs1582024099
|
0.00001
|
NM_138694.4(PKHD1):c.12003G>A (p.Glu4001=)
|
rs562165459
|
0.00001
|
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter)
|
rs780097121
|
0.00001
|
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys)
|
rs531466080
|
0.00001
|
NM_138694.4(PKHD1):c.12094C>T (p.Pro4032Ser)
|
rs756859994
|
0.00001
|
NM_138694.4(PKHD1):c.12130T>C (p.Leu4044=)
|
rs1334083093
|
0.00001
|
NM_138694.4(PKHD1):c.12159C>T (p.Ser4053=)
|
rs1186724457
|
0.00001
|
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=)
|
rs757125119
|
0.00001
|
NM_138694.4(PKHD1):c.12201G>A (p.Pro4067=)
|
rs750988521
|
0.00001
|
NM_138694.4(PKHD1):c.12201G>T (p.Pro4067=)
|
rs750988521
|
0.00001
|
NM_138694.4(PKHD1):c.12213G>A (p.Gln4071=)
|
rs1406924877
|
0.00001
|
NM_138694.4(PKHD1):c.1233+10G>C
|
rs751322231
|
0.00001
|
NM_138694.4(PKHD1):c.1248C>T (p.Ser416=)
|
rs1328906463
|
0.00001
|
NM_138694.4(PKHD1):c.1293T>C (p.Asn431=)
|
rs1389554245
|
0.00001
|
NM_138694.4(PKHD1):c.1356C>T (p.Tyr452=)
|
rs1007001451
|
0.00001
|
NM_138694.4(PKHD1):c.1395G>A (p.Arg465=)
|
rs1396450370
|
0.00001
|
NM_138694.4(PKHD1):c.13C>T (p.Leu5=)
|
rs777099133
|
0.00001
|
NM_138694.4(PKHD1):c.1403G>T (p.Arg468Met)
|
rs765645325
|
0.00001
|
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val)
|
rs776845008
|
0.00001
|
NM_138694.4(PKHD1):c.1425C>T (p.Asn475=)
|
rs200745148
|
0.00001
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.1503A>C (p.Pro501=)
|
rs199736501
|
0.00001
|
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter)
|
rs759322460
|
0.00001
|
NM_138694.4(PKHD1):c.1513-8T>A
|
rs752966160
|
0.00001
|
NM_138694.4(PKHD1):c.1545C>T (p.Phe515=)
|
rs267601071
|
0.00001
|
NM_138694.4(PKHD1):c.1594G>A (p.Ala532Thr)
|
rs367837640
|
0.00001
|
NM_138694.4(PKHD1):c.1677G>A (p.Arg559=)
|
rs1807805209
|
0.00001
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
NM_138694.4(PKHD1):c.1693+10G>A
|
rs886061621
|
0.00001
|
NM_138694.4(PKHD1):c.1694-2A>G
|
rs1807619777
|
0.00001
|
NM_138694.4(PKHD1):c.1719G>A (p.Gly573=)
|
rs753857593
|
0.00001
|
NM_138694.4(PKHD1):c.1721A>T (p.Asp574Val)
|
rs767122237
|
0.00001
|
NM_138694.4(PKHD1):c.1734G>A (p.Gly578=)
|
rs759232883
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138694.4(PKHD1):c.1760G>T (p.Ser587Ile)
|
rs769095204
|
0.00001
|
NM_138694.4(PKHD1):c.1788T>G (p.Leu596=)
|
rs1404513514
|
0.00001
|
NM_138694.4(PKHD1):c.1830T>C (p.Tyr610=)
|
rs749293235
|
0.00001
|
NM_138694.4(PKHD1):c.18C>T (p.Ile6=)
|
rs752114253
|
0.00001
|
NM_138694.4(PKHD1):c.1917A>T (p.Val639=)
|
rs1192699542
|
0.00001
|
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=)
|
rs775144938
|
0.00001
|
NM_138694.4(PKHD1):c.192C>T (p.Asn64=)
|
rs148089143
|
0.00001
|
NM_138694.4(PKHD1):c.1959C>T (p.Pro653=)
|
rs940015253
|
0.00001
|
NM_138694.4(PKHD1):c.1964+12G>T
|
rs572664151
|
0.00001
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
NM_138694.4(PKHD1):c.1964+7A>G
|
rs1807305424
|
0.00001
|
NM_138694.4(PKHD1):c.1971G>A (p.Gln657=)
|
rs192450061
|
0.00001
|
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)
|
rs376987651
|
0.00001
|
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=)
|
rs769144028
|
0.00001
|
NM_138694.4(PKHD1):c.2080G>T (p.Ala694Ser)
|
rs1161554442
|
0.00001
|
NM_138694.4(PKHD1):c.210C>T (p.Pro70=)
|
rs372103359
|
0.00001
|
NM_138694.4(PKHD1):c.2140+10A>T
|
rs764919618
|
0.00001
|
NM_138694.4(PKHD1):c.2141-4C>G
|
rs1042054004
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)
|
rs727504090
|
0.00001
|
NM_138694.4(PKHD1):c.2229C>G (p.Val743=)
|
rs972076176
|
0.00001
|
NM_138694.4(PKHD1):c.2275G>A (p.Ala759Thr)
|
rs550730673
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2280-5C>T
|
rs755922714
|
0.00001
|
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)
|
rs767737392
|
0.00001
|
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)
|
rs371928571
|
0.00001
|
NM_138694.4(PKHD1):c.2377C>T (p.Arg793Cys)
|
rs779653146
|
0.00001
|
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro)
|
rs750588859
|
0.00001
|
NM_138694.4(PKHD1):c.2408-12C>G
|
rs1207504818
|
0.00001
|
NM_138694.4(PKHD1):c.2469C>T (p.Asp823=)
|
rs978337519
|
0.00001
|
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val)
|
rs546401927
|
0.00001
|
NM_138694.4(PKHD1):c.2520A>G (p.Leu840=)
|
rs1490829825
|
0.00001
|
NM_138694.4(PKHD1):c.2592+6T>C
|
rs746058715
|
0.00001
|
NM_138694.4(PKHD1):c.2593-10A>G
|
rs1050450962
|
0.00001
|
NM_138694.4(PKHD1):c.2610T>C (p.Leu870=)
|
rs368451393
|
0.00001
|
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
|
rs752646435
|
0.00001
|
NM_138694.4(PKHD1):c.2646A>G (p.Val882=)
|
rs1450116257
|
0.00001
|
NM_138694.4(PKHD1):c.2667T>C (p.Leu889=)
|
rs985733934
|
0.00001
|
NM_138694.4(PKHD1):c.2695A>G (p.Thr899Ala)
|
rs922828020
|
0.00001
|
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)
|
rs1562217633
|
0.00001
|
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)
|
rs764696718
|
0.00001
|
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_138694.4(PKHD1):c.2760C>T (p.Ser920=)
|
rs1334823914
|
0.00001
|
NM_138694.4(PKHD1):c.2788A>G (p.Thr930Ala)
|
rs144387673
|
0.00001
|
NM_138694.4(PKHD1):c.2802T>C (p.His934=)
|
rs1046496759
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2817C>T (p.Ser939=)
|
rs745591932
|
0.00001
|
NM_138694.4(PKHD1):c.282-10C>T
|
rs756943999
|
0.00001
|
NM_138694.4(PKHD1):c.2821+2T>C
|
rs1394431107
|
0.00001
|
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)
|
rs777158800
|
0.00001
|
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met)
|
rs530600526
|
0.00001
|
NM_138694.4(PKHD1):c.2931C>T (p.Asn977=)
|
rs777632589
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_138694.4(PKHD1):c.2979T>C (p.His993=)
|
rs528105052
|
0.00001
|
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)
|
rs757854282
|
0.00001
|
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln)
|
rs899785229
|
0.00001
|
NM_138694.4(PKHD1):c.3097+7T>C
|
rs759764362
|
0.00001
|
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val)
|
rs727504088
|
0.00001
|
NM_138694.4(PKHD1):c.3168G>A (p.Ser1056=)
|
rs771881705
|
0.00001
|
NM_138694.4(PKHD1):c.3171T>C (p.Cys1057=)
|
rs745329565
|
0.00001
|
NM_138694.4(PKHD1):c.3174C>T (p.Ala1058=)
|
rs773742186
|
0.00001
|
NM_138694.4(PKHD1):c.31A>G (p.Ile11Val)
|
rs765389565
|
0.00001
|
NM_138694.4(PKHD1):c.3229-2del
|
rs1057516283
|
0.00001
|
NM_138694.4(PKHD1):c.3229-7T>G
|
rs780401384
|
0.00001
|
NM_138694.4(PKHD1):c.3261G>T (p.Val1087=)
|
rs752468749
|
0.00001
|
NM_138694.4(PKHD1):c.3264C>T (p.Ile1088=)
|
rs1372651017
|
0.00001
|
NM_138694.4(PKHD1):c.3270G>A (p.Gly1090=)
|
rs1225705824
|
0.00001
|
NM_138694.4(PKHD1):c.3278C>T (p.Ser1093Phe)
|
rs759209828
|
0.00001
|
NM_138694.4(PKHD1):c.3288T>C (p.Leu1096=)
|
rs751889282
|
0.00001
|
NM_138694.4(PKHD1):c.3324A>G (p.Pro1108=)
|
rs775820981
|
0.00001
|
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr)
|
rs772369540
|
0.00001
|
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg)
|
rs746070060
|
0.00001
|
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr)
|
rs78624439
|
0.00001
|
NM_138694.4(PKHD1):c.3393G>A (p.Ala1131=)
|
rs1562177292
|
0.00001
|
NM_138694.4(PKHD1):c.3444C>T (p.Ala1148=)
|
rs768475335
|
0.00001
|
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=)
|
rs758231968
|
0.00001
|
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)
|
rs1554200780
|
0.00001
|
NM_138694.4(PKHD1):c.3511C>G (p.Leu1171Val)
|
rs554000894
|
0.00001
|
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)
|
rs797044713
|
0.00001
|
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser)
|
rs747233443
|
0.00001
|
NM_138694.4(PKHD1):c.3547A>G (p.Ile1183Val)
|
rs746874144
|
0.00001
|
NM_138694.4(PKHD1):c.3561-11A>G
|
rs774114631
|
0.00001
|
NM_138694.4(PKHD1):c.3603C>T (p.Ile1201=)
|
rs565924770
|
0.00001
|
NM_138694.4(PKHD1):c.3618G>A (p.Gly1206=)
|
rs948061604
|
0.00001
|
NM_138694.4(PKHD1):c.3628+7G>A
|
rs1471032530
|
0.00001
|
NM_138694.4(PKHD1):c.3690A>G (p.Val1230=)
|
rs762868509
|
0.00001
|
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)
|
rs727504096
|
0.00001
|
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln)
|
rs764940559
|
0.00001
|
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys)
|
rs774865280
|
0.00001
|
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=)
|
rs150985194
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.3762C>T (p.Ala1254=)
|
rs758337939
|
0.00001
|
NM_138694.4(PKHD1):c.3774C>T (p.Pro1258=)
|
rs765696714
|
0.00001
|
NM_138694.4(PKHD1):c.3810G>A (p.Glu1270=)
|
rs747245050
|
0.00001
|
NM_138694.4(PKHD1):c.381T>C (p.Cys127=)
|
rs755926109
|
0.00001
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
NM_138694.4(PKHD1):c.3897A>C (p.Ala1299=)
|
rs1581812316
|
0.00001
|
NM_138694.4(PKHD1):c.3949C>T (p.Leu1317=)
|
rs1262572564
|
0.00001
|
NM_138694.4(PKHD1):c.3983T>C (p.Val1328Ala)
|
rs767017869
|
0.00001
|
NM_138694.4(PKHD1):c.4053A>G (p.Gly1351=)
|
rs1802062861
|
0.00001
|
NM_138694.4(PKHD1):c.4080G>A (p.Glu1360=)
|
rs1227531783
|
0.00001
|
NM_138694.4(PKHD1):c.4116G>A (p.Gln1372=)
|
rs767970427
|
0.00001
|
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr)
|
rs773345692
|
0.00001
|
NM_138694.4(PKHD1):c.414C>T (p.Ile138=)
|
rs368595925
|
0.00001
|
NM_138694.4(PKHD1):c.4190C>T (p.Ser1397Leu)
|
rs778541098
|
0.00001
|
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg)
|
rs759930967
|
0.00001
|
NM_138694.4(PKHD1):c.4212G>A (p.Gly1404=)
|
rs751984319
|
0.00001
|
NM_138694.4(PKHD1):c.4224T>C (p.Thr1408=)
|
rs1348053835
|
0.00001
|
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu)
|
rs771702541
|
0.00001
|
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)
|
rs141093030
|
0.00001
|
NM_138694.4(PKHD1):c.4350C>A (p.Asp1450Glu)
|
rs761895057
|
0.00001
|
NM_138694.4(PKHD1):c.435A>G (p.Pro145=)
|
rs1385777368
|
0.00001
|
NM_138694.4(PKHD1):c.4386A>G (p.Thr1462=)
|
rs1802008518
|
0.00001
|
NM_138694.4(PKHD1):c.4403T>C (p.Leu1468Pro)
|
rs140331370
|
0.00001
|
NM_138694.4(PKHD1):c.4458T>G (p.Pro1486=)
|
rs1801993321
|
0.00001
|
NM_138694.4(PKHD1):c.448+8A>T
|
rs754306902
|
0.00001
|
NM_138694.4(PKHD1):c.449-6A>G
|
rs200204976
|
0.00001
|
NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly)
|
rs1271610315
|
0.00001
|
NM_138694.4(PKHD1):c.4529C>A (p.Ala1510Asp)
|
rs758834151
|
0.00001
|
NM_138694.4(PKHD1):c.4548G>A (p.Pro1516=)
|
rs141745652
|
0.00001
|
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)
|
rs1278235097
|
0.00001
|
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)
|
rs1350620976
|
0.00001
|
NM_138694.4(PKHD1):c.494A>C (p.Glu165Ala)
|
rs1302500833
|
0.00001
|
NM_138694.4(PKHD1):c.519C>T (p.Tyr173=)
|
rs1044839219
|
0.00001
|
NM_138694.4(PKHD1):c.5241C>T (p.Cys1747=)
|
rs750494997
|
0.00001
|
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=)
|
rs556583531
|
0.00001
|
NM_138694.4(PKHD1):c.528-12T>G
|
rs1231110596
|
0.00001
|
NM_138694.4(PKHD1):c.528-9T>A
|
rs765406968
|
0.00001
|
NM_138694.4(PKHD1):c.5295C>T (p.Val1765=)
|
rs1314352919
|
0.00001
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)
|
rs770522674
|
0.00001
|
NM_138694.4(PKHD1):c.5364G>C (p.Leu1788Phe)
|
rs780332791
|
0.00001
|
NM_138694.4(PKHD1):c.5448T>C (p.Tyr1816=)
|
rs1554194511
|
0.00001
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=)
|
rs1241103975
|
0.00001
|
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=)
|
rs535128714
|
0.00001
|
NM_138694.4(PKHD1):c.5534A>G (p.Gln1845Arg)
|
rs566044331
|
0.00001
|
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=)
|
rs1355951747
|
0.00001
|
NM_138694.4(PKHD1):c.5556T>C (p.His1852=)
|
rs549418638
|
0.00001
|
NM_138694.4(PKHD1):c.5586G>A (p.Ser1862=)
|
rs1372900985
|
0.00001
|
NM_138694.4(PKHD1):c.5601-8C>T
|
rs578030952
|
0.00001
|
NM_138694.4(PKHD1):c.564T>C (p.Val188=)
|
rs539421268
|
0.00001
|
NM_138694.4(PKHD1):c.5664T>C (p.Thr1888=)
|
rs1351464166
|
0.00001
|
NM_138694.4(PKHD1):c.5688G>A (p.Thr1896=)
|
rs1050674532
|
0.00001
|
NM_138694.4(PKHD1):c.56G>A (p.Arg19His)
|
rs1375765328
|
0.00001
|
NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=)
|
rs755566688
|
0.00001
|
NM_138694.4(PKHD1):c.5718T>C (p.Thr1906=)
|
rs374118763
|
0.00001
|
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)
|
rs1313206550
|
0.00001
|
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=)
|
rs1167596697
|
0.00001
|
NM_138694.4(PKHD1):c.5857T>C (p.Leu1953=)
|
rs1337056978
|
0.00001
|
NM_138694.4(PKHD1):c.5901C>T (p.His1967=)
|
rs767869432
|
0.00001
|
NM_138694.4(PKHD1):c.5919G>A (p.Leu1973=)
|
rs776465295
|
0.00001
|
NM_138694.4(PKHD1):c.5940C>A (p.Pro1980=)
|
rs1787124894
|
0.00001
|
NM_138694.4(PKHD1):c.5943C>T (p.Ile1981=)
|
rs768329869
|
0.00001
|
NM_138694.4(PKHD1):c.5976T>C (p.Asp1992=)
|
rs371017079
|
0.00001
|
NM_138694.4(PKHD1):c.5991G>A (p.Arg1997=)
|
rs1787110447
|
0.00001
|
NM_138694.4(PKHD1):c.600C>T (p.Ser200=)
|
rs1232880579
|
0.00001
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=)
|
rs373208457
|
0.00001
|
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
0.00001
|
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)
|
rs774944622
|
0.00001
|
NM_138694.4(PKHD1):c.6075T>C (p.Tyr2025=)
|
rs199747902
|
0.00001
|
NM_138694.4(PKHD1):c.6078A>G (p.Gly2026=)
|
rs142591323
|
0.00001
|
NM_138694.4(PKHD1):c.6084G>A (p.Lys2028=)
|
rs770405897
|
0.00001
|
NM_138694.4(PKHD1):c.6138A>G (p.Val2046=)
|
rs571947850
|
0.00001
|
NM_138694.4(PKHD1):c.6142G>T (p.Val2048Phe)
|
rs767464186
|
0.00001
|
NM_138694.4(PKHD1):c.6187G>A (p.Ala2063Thr)
|
rs772835579
|
0.00001
|
NM_138694.4(PKHD1):c.6280G>A (p.Val2094Ile)
|
rs1314635548
|
0.00001
|
NM_138694.4(PKHD1):c.6306A>G (p.Thr2102=)
|
rs368564244
|
0.00001
|
NM_138694.4(PKHD1):c.6312C>T (p.Leu2104=)
|
rs1380168177
|
0.00001
|
NM_138694.4(PKHD1):c.6351A>G (p.Thr2117=)
|
rs766729223
|
0.00001
|
NM_138694.4(PKHD1):c.6387G>A (p.Lys2129=)
|
rs1783006359
|
0.00001
|
NM_138694.4(PKHD1):c.642G>A (p.Gln214=)
|
rs762584715
|
0.00001
|
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr)
|
rs750822014
|
0.00001
|
NM_138694.4(PKHD1):c.6490+10T>C
|
rs1782979614
|
0.00001
|
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)
|
rs368263958
|
0.00001
|
NM_138694.4(PKHD1):c.657C>T (p.Gly219=)
|
rs189345248
|
0.00001
|
NM_138694.4(PKHD1):c.6609A>C (p.Gly2203=)
|
rs1199469738
|
0.00001
|
NM_138694.4(PKHD1):c.660C>T (p.Asp220=)
|
rs1480108656
|
0.00001
|
NM_138694.4(PKHD1):c.6630G>A (p.Gly2210=)
|
rs1199629361
|
0.00001
|
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr)
|
rs1376315113
|
0.00001
|
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr)
|
rs1459248210
|
0.00001
|
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
|
rs749454235
|
0.00001
|
NM_138694.4(PKHD1):c.6753C>T (p.Gly2251=)
|
rs1298717679
|
0.00001
|
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=)
|
rs1315333212
|
0.00001
|
NM_138694.4(PKHD1):c.6789A>G (p.Leu2263=)
|
rs756262878
|
0.00001
|
NM_138694.4(PKHD1):c.6802C>T (p.Leu2268=)
|
rs758494106
|
0.00001
|
NM_138694.4(PKHD1):c.6808+1G>T
|
rs1217968843
|
0.00001
|
NM_138694.4(PKHD1):c.6865+8T>C
|
rs777581510
|
0.00001
|
NM_138694.4(PKHD1):c.6885T>C (p.Asn2295=)
|
rs749198425
|
0.00001
|
NM_138694.4(PKHD1):c.6909C>T (p.Ile2303=)
|
rs1195711232
|
0.00001
|
NM_138694.4(PKHD1):c.6984C>T (p.Thr2328=)
|
rs770983834
|
0.00001
|
NM_138694.4(PKHD1):c.6996+9T>A
|
rs878855203
|
0.00001
|
NM_138694.4(PKHD1):c.6T>C (p.Thr2=)
|
rs372067956
|
0.00001
|
NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser)
|
rs1554290169
|
0.00001
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
0.00001
|
NM_138694.4(PKHD1):c.7095A>G (p.Ala2365=)
|
rs1778339251
|
0.00001
|
NM_138694.4(PKHD1):c.7109+10G>T
|
rs143958875
|
0.00001
|
NM_138694.4(PKHD1):c.711_714del (p.Met238fs)
|
rs786204588
|
0.00001
|
NM_138694.4(PKHD1):c.7131T>C (p.Pro2377=)
|
rs1382219917
|
0.00001
|
NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter)
|
rs1436814142
|
0.00001
|
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)
|
rs794727680
|
0.00001
|
NM_138694.4(PKHD1):c.7216-9A>G
|
rs765009828
|
0.00001
|
NM_138694.4(PKHD1):c.722A>G (p.Lys241Arg)
|
rs763591478
|
0.00001
|
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)
|
rs398124492
|
0.00001
|
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)
|
rs200807210
|
0.00001
|
NM_138694.4(PKHD1):c.7292A>T (p.Glu2431Val)
|
rs1280884139
|
0.00001
|
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=)
|
rs771622189
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly)
|
rs747117144
|
0.00001
|
NM_138694.4(PKHD1):c.7410T>C (p.Ser2470=)
|
rs1370325898
|
0.00001
|
NM_138694.4(PKHD1):c.7414A>G (p.Thr2472Ala)
|
rs137972951
|
0.00001
|
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe)
|
rs202008567
|
0.00001
|
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)
|
rs199996156
|
0.00001
|
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=)
|
rs746499996
|
0.00001
|
NM_138694.4(PKHD1):c.7593G>C (p.Leu2531=)
|
rs773279567
|
0.00001
|
NM_138694.4(PKHD1):c.7600A>G (p.Lys2534Glu)
|
rs1392464284
|
0.00001
|
NM_138694.4(PKHD1):c.7619T>C (p.Leu2540Pro)
|
rs761681284
|
0.00001
|
NM_138694.4(PKHD1):c.7626T>C (p.Ser2542=)
|
rs544539357
|
0.00001
|
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)
|
rs771563591
|
0.00001
|
NM_138694.4(PKHD1):c.7658A>G (p.Asn2553Ser)
|
rs576001667
|
0.00001
|
NM_138694.4(PKHD1):c.7715A>T (p.His2572Leu)
|
rs765237487
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_138694.4(PKHD1):c.7733+15C>A
|
rs771759749
|
0.00001
|
NM_138694.4(PKHD1):c.7742C>T (p.Thr2581Ile)
|
rs1447744840
|
0.00001
|
NM_138694.4(PKHD1):c.7758T>C (p.Tyr2586=)
|
rs769256062
|
0.00001
|
NM_138694.4(PKHD1):c.7766C>A (p.Thr2589Asn)
|
rs1375719978
|
0.00001
|
NM_138694.4(PKHD1):c.779-4G>C
|
rs903824497
|
0.00001
|
NM_138694.4(PKHD1):c.779-7C>G
|
rs749068364
|
0.00001
|
NM_138694.4(PKHD1):c.7818A>C (p.Thr2606=)
|
rs767241050
|
0.00001
|
NM_138694.4(PKHD1):c.7847T>C (p.Leu2616Pro)
|
rs772556933
|
0.00001
|
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=)
|
rs140033417
|
0.00001
|
NM_138694.4(PKHD1):c.7906C>T (p.Leu2636=)
|
rs568173041
|
0.00001
|
NM_138694.4(PKHD1):c.7911+10G>T
|
rs1349962269
|
0.00001
|
NM_138694.4(PKHD1):c.7912-4C>G
|
rs199904719
|
0.00001
|
NM_138694.4(PKHD1):c.7938T>C (p.Ala2646=)
|
rs755847061
|
0.00001
|
NM_138694.4(PKHD1):c.7989C>T (p.Asp2663=)
|
rs950565294
|
0.00001
|
NM_138694.4(PKHD1):c.798A>C (p.Pro266=)
|
rs752452008
|
0.00001
|
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)
|
rs137852947
|
0.00001
|
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln)
|
rs778592523
|
0.00001
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly)
|
rs775472136
|
0.00001
|
NM_138694.4(PKHD1):c.8108-10T>C
|
rs369344295
|
0.00001
|
NM_138694.4(PKHD1):c.8112A>T (p.Ser2704=)
|
rs749153516
|
0.00001
|
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp)
|
rs754533251
|
0.00001
|
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=)
|
rs759658629
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
NM_138694.4(PKHD1):c.8212C>G (p.Leu2738Val)
|
rs761723122
|
0.00001
|
NM_138694.4(PKHD1):c.8250A>G (p.Gly2750=)
|
rs746690623
|
0.00001
|
NM_138694.4(PKHD1):c.8283T>A (p.Asp2761Glu)
|
rs1381302226
|
0.00001
|
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=)
|
rs756431455
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8318T>G (p.Val2773Gly)
|
rs1471306684
|
0.00001
|
NM_138694.4(PKHD1):c.8390A>G (p.Asn2797Ser)
|
rs369941024
|
0.00001
|
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr)
|
rs398124496
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_138694.4(PKHD1):c.8430G>A (p.Glu2810=)
|
rs1188949424
|
0.00001
|
NM_138694.4(PKHD1):c.8466G>A (p.Lys2822=)
|
rs974957771
|
0.00001
|
NM_138694.4(PKHD1):c.8484T>A (p.Ile2828=)
|
rs1790939999
|
0.00001
|
NM_138694.4(PKHD1):c.8506G>A (p.Val2836Ile)
|
rs749536372
|
0.00001
|
NM_138694.4(PKHD1):c.8532T>A (p.Ile2844=)
|
rs941290574
|
0.00001
|
NM_138694.4(PKHD1):c.8554+10T>C
|
rs756890131
|
0.00001
|
NM_138694.4(PKHD1):c.8554+1G>A
|
rs1790925351
|
0.00001
|
NM_138694.4(PKHD1):c.8555-2A>C
|
rs1020621286
|
0.00001
|
NM_138694.4(PKHD1):c.8562T>C (p.Tyr2854=)
|
rs1245635020
|
0.00001
|
NM_138694.4(PKHD1):c.8622T>C (p.Asp2874=)
|
rs1312568936
|
0.00001
|
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)
|
rs779168950
|
0.00001
|
NM_138694.4(PKHD1):c.8642+1G>A
|
rs1485161784
|
0.00001
|
NM_138694.4(PKHD1):c.8643-7G>C
|
rs775263962
|
0.00001
|
NM_138694.4(PKHD1):c.8671C>T (p.Arg2891Cys)
|
rs148990124
|
0.00001
|
NM_138694.4(PKHD1):c.8679T>C (p.His2893=)
|
rs1229318498
|
0.00001
|
NM_138694.4(PKHD1):c.868G>A (p.Val290Ile)
|
rs773123823
|
0.00001
|
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr)
|
rs193185189
|
0.00001
|
NM_138694.4(PKHD1):c.8788C>T (p.Arg2930Trp)
|
rs752776137
|
0.00001
|
NM_138694.4(PKHD1):c.8798-10A>G
|
rs1562235798
|
0.00001
|
NM_138694.4(PKHD1):c.880+9G>T
|
rs374619722
|
0.00001
|
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=)
|
rs1418482955
|
0.00001
|
NM_138694.4(PKHD1):c.881-7G>A
|
rs776386120
|
0.00001
|
NM_138694.4(PKHD1):c.881-8C>T
|
rs546145058
|
0.00001
|
NM_138694.4(PKHD1):c.8814G>A (p.Thr2938=)
|
rs755169390
|
0.00001
|
NM_138694.4(PKHD1):c.8823C>G (p.Gly2941=)
|
rs762630992
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.8825G>A (p.Arg2942Gln)
|
rs772538453
|
0.00001
|
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val)
|
rs773010322
|
0.00001
|
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)
|
rs768138709
|
0.00001
|
NM_138694.4(PKHD1):c.8860A>G (p.Thr2954Ala)
|
rs1292890415
|
0.00001
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_138694.4(PKHD1):c.8948C>T (p.Ser2983Leu)
|
rs141169758
|
0.00001
|
NM_138694.4(PKHD1):c.8955C>T (p.Val2985=)
|
rs1324020809
|
0.00001
|
NM_138694.4(PKHD1):c.8988C>T (p.Phe2996=)
|
rs576108391
|
0.00001
|
NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=)
|
rs777095602
|
0.00001
|
NM_138694.4(PKHD1):c.903C>T (p.His301=)
|
rs1389574069
|
0.00001
|
NM_138694.4(PKHD1):c.9087T>C (p.His3029=)
|
rs767117867
|
0.00001
|
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)
|
rs367678592
|
0.00001
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
NM_138694.4(PKHD1):c.9177T>A (p.Thr3059=)
|
rs1474156914
|
0.00001
|
NM_138694.4(PKHD1):c.9186T>C (p.Asn3062=)
|
rs755873874
|
0.00001
|
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)
|
rs764734730
|
0.00001
|
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys)
|
rs769571577
|
0.00001
|
NM_138694.4(PKHD1):c.9283G>A (p.Val3095Ile)
|
rs768508521
|
0.00001
|
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)
|
rs757946548
|
0.00001
|
NM_138694.4(PKHD1):c.9300G>A (p.Glu3100=)
|
rs1224475626
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9320G>A (p.Arg3107Gln)
|
rs751750213
|
0.00001
|
NM_138694.4(PKHD1):c.9327C>T (p.His3109=)
|
rs1160858819
|
0.00001
|
NM_138694.4(PKHD1):c.9330G>A (p.Lys3110=)
|
rs1400915471
|
0.00001
|
NM_138694.4(PKHD1):c.9339T>C (p.Ser3113=)
|
rs763186740
|
0.00001
|
NM_138694.4(PKHD1):c.9371A>G (p.His3124Arg)
|
rs373241537
|
0.00001
|
NM_138694.4(PKHD1):c.9414T>C (p.Leu3138=)
|
rs1452500333
|
0.00001
|
NM_138694.4(PKHD1):c.9420C>T (p.Asn3140=)
|
rs758547268
|
0.00001
|
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly)
|
rs1477456222
|
0.00001
|
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)
|
rs957419550
|
0.00001
|
NM_138694.4(PKHD1):c.9465T>C (p.Tyr3155=)
|
rs1404074777
|
0.00001
|
NM_138694.4(PKHD1):c.9561T>C (p.Ser3187=)
|
rs1432213391
|
0.00001
|
NM_138694.4(PKHD1):c.9594T>A (p.Ile3198=)
|
rs773854148
|
0.00001
|
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
|
rs1242089464
|
0.00001
|
NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile)
|
rs1263208576
|
0.00001
|
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter)
|
rs758732107
|
0.00001
|
NM_138694.4(PKHD1):c.966C>T (p.Thr322=)
|
rs761885512
|
0.00001
|
NM_138694.4(PKHD1):c.9678G>A (p.Leu3226=)
|
rs752654520
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
NM_138694.4(PKHD1):c.977-1G>A
|
rs1808864196
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
NM_138694.4(PKHD1):c.9830-10A>T
|
rs1196987235
|
0.00001
|
NM_138694.4(PKHD1):c.9837C>T (p.Thr3279=)
|
rs763551387
|
0.00001
|
NM_138694.4(PKHD1):c.9861C>T (p.Cys3287=)
|
rs748369853
|
0.00001
|
NM_138694.4(PKHD1):c.9864T>C (p.Tyr3288=)
|
rs1306350556
|
0.00001
|
NM_138694.4(PKHD1):c.9924A>G (p.Pro3308=)
|
rs1263149452
|
0.00001
|
NM_138694.4(PKHD1):c.9957A>G (p.Ile3319Met)
|
rs762304990
|
0.00001
|
NM_138694.4(PKHD1):c.9978C>T (p.Tyr3326=)
|
rs1785239681
|
0.00001
|
NC_000006.11:g.(51514019_51523749)_(51524768_51609182)del
|
|
|
NC_000006.11:g.(51712769_51720690)_(51777375_51798907)dup
|
|
|
NC_000006.11:g.(51752044_51768394)_(51774273_51776596)del
|
|
|
NC_000006.11:g.(51924841_51927316)_(51927459_51929752)del
|
|
|
NC_000006.11:g.(?_51483869)_(51524777_?)del
|
|
|
NC_000006.11:g.(?_51483869)_(51949741_?)del
|
|
|
NC_000006.11:g.(?_51483879)_(51491934_?)dup
|
|
|
NC_000006.11:g.(?_51483879)_(51949731_?)del
|
|
|
NC_000006.11:g.(?_51491785)_(51609350_?)del
|
|
|
NC_000006.11:g.(?_51491828)_(51492507_?)del
|
|
|
NC_000006.11:g.(?_51497353)_(51524777_?)del
|
|
|
NC_000006.11:g.(?_51523740)_(51524777_?)del
|
|
|
NC_000006.11:g.(?_51586774)_(51752053_?)del
|
|
|
NC_000006.11:g.(?_51609163)_(51640739_?)dup
|
|
|
NC_000006.11:g.(?_51609173)_(51611697_?)del
|
|
|
NC_000006.11:g.(?_51611509)_(51611697_?)del
|
|
|
NC_000006.11:g.(?_51612575)_(51618161_?)del
|
|
|
NC_000006.11:g.(?_51612985)_(51637140_?)del
|
|
|
NC_000006.11:g.(?_51637490)_(51637597_?)del
|
|
|
NC_000006.11:g.(?_51637490)_(51640729_?)del
|
|
|
NC_000006.11:g.(?_51695649)_(51720878_?)del
|
|
|
NC_000006.11:g.(?_51701182)_(51701287_?)del
|
|
|
NC_000006.11:g.(?_51701192)_(51701277_?)del
|
|
|
NC_000006.11:g.(?_51732651)_(51752053_?)del
|
|
|
NC_000006.11:g.(?_51747238)_(51752053_?)del
|
|
|
NC_000006.11:g.(?_51747238)_(51777384_?)dup
|
|
|
NC_000006.11:g.(?_51750655)_(51768850_?)dup
|
|
|
NC_000006.11:g.(?_51768385)_(51799130_?)dup
|
|
|
NC_000006.11:g.(?_51798898)_(51824834_?)dup
|
|
|
NC_000006.11:g.(?_51875087)_(51882447_?)dup
|
|
|
NC_000006.11:g.(?_51917864)_(51924850_?)dup
|
|
|
NC_000006.11:g.(?_51924716)_(51924850_?)del
|
|
|
NC_000006.11:g.(?_51936903)_(51938349_?)del
|
|
|
NC_000006.11:g.(?_51949670)_(51949741_?)del
|
|
|
NC_000006.12:g.(?_51632545)_(51648138_?)del
|
|
|
NC_000006.12:g.(?_51855873)_(51912596_?)dup
|
|
|
NC_000006.12:g.(?_51959860)_(52010469_?)del
|
|
|
NC_000006.12:g.(?_52053066)_(52054175_?)del
|
|
|
NC_000006.12:g.(?_52055567)_(52055749_?)del
|
|
|
NC_000006.12:g.52082543del
|
|
|
NM_138694.3(PKHD1):c.-276A>C
|
rs773740905
|
|
NM_138694.3(PKHD1):c.8108-?_8173+?del
|
|
|
NM_138694.4(PKHD1):c.*1023G>A
|
rs185962129
|
|
NM_138694.4(PKHD1):c.*1130C>T
|
rs181120541
|
|
NM_138694.4(PKHD1):c.*1335T>C
|
rs886061603
|
|
NM_138694.4(PKHD1):c.*1492_*1497del
|
rs886061601
|
|
NM_138694.4(PKHD1):c.*1589T>G
|
rs886061600
|
|
NM_138694.4(PKHD1):c.*1592T>C
|
rs1288662627
|
|
NM_138694.4(PKHD1):c.*1596C>T
|
rs555042069
|
|
NM_138694.4(PKHD1):c.*1749C>T
|
rs886061599
|
|
NM_138694.4(PKHD1):c.*1T>C
|
rs369623770
|
|
NM_138694.4(PKHD1):c.*2064G>T
|
rs141074474
|
|
NM_138694.4(PKHD1):c.*2463C>T
|
rs1766092325
|
|
NM_138694.4(PKHD1):c.*2552_*2553dup
|
rs113144792
|
|
NM_138694.4(PKHD1):c.*2553dup
|
rs113144792
|
|
NM_138694.4(PKHD1):c.*2665C>A
|
rs189302289
|
|
NM_138694.4(PKHD1):c.*2666G>A
|
rs77036429
|
|
NM_138694.4(PKHD1):c.*2857A>C
|
rs886061594
|
|
NM_138694.4(PKHD1):c.*3379A>G
|
rs544667112
|
|
NM_138694.4(PKHD1):c.*3393C>A
|
rs2784198
|
|
NM_138694.4(PKHD1):c.*3505AATT[1]
|
rs552076092
|
|
NM_138694.4(PKHD1):c.*3520T>C
|
rs886061591
|
|
NM_138694.4(PKHD1):c.*604C>A
|
rs41273720
|
|
NM_138694.4(PKHD1):c.*760T>G
|
rs886061607
|
|
NM_138694.4(PKHD1):c.-185A>G
|
rs1812958193
|
|
NM_138694.4(PKHD1):c.10002A>G (p.Lys3334=)
|
rs886061613
|
|
NM_138694.4(PKHD1):c.10005T>C (p.Asp3335=)
|
rs2150962983
|
|
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp)
|
rs1384539153
|
|
NM_138694.4(PKHD1):c.10020C>T (p.Val3340=)
|
rs2150962883
|
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs)
|
rs1554216571
|
|
NM_138694.4(PKHD1):c.10050A>G (p.Arg3350=)
|
|
|
NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His)
|
|
|
NM_138694.4(PKHD1):c.10065G>A (p.Lys3355=)
|
|
|
NM_138694.4(PKHD1):c.10074T>C (p.Asp3358=)
|
|
|
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)
|
rs1554216538
|
|
NM_138694.4(PKHD1):c.1008T>C (p.Asp336=)
|
rs2128219097
|
|
NM_138694.4(PKHD1):c.10091T>C (p.Leu3364Pro)
|
|
|
NM_138694.4(PKHD1):c.10092G>A (p.Leu3364=)
|
|
|
NM_138694.4(PKHD1):c.1009G>A (p.Ala337Thr)
|
|
|
NM_138694.4(PKHD1):c.10101A>G (p.Pro3367=)
|
rs2150962367
|
|
NM_138694.4(PKHD1):c.10101A>T (p.Pro3367=)
|
|
|
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro)
|
rs2150962340
|
|
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.1011T>G (p.Ala337=)
|
|
|
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)
|
rs1334145215
|
|
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter)
|
rs2150962096
|
|
NM_138694.4(PKHD1):c.10140A>G (p.Ala3380=)
|
rs2150962066
|
|
NM_138694.4(PKHD1):c.10143C>T (p.Ser3381=)
|
|
|
NM_138694.4(PKHD1):c.10146C>T (p.Phe3382=)
|
rs2150961997
|
|
NM_138694.4(PKHD1):c.10149C>T (p.Phe3383=)
|
|
|
NM_138694.4(PKHD1):c.10151A>G (p.Asn3384Ser)
|
|
|
NM_138694.4(PKHD1):c.10153G>A (p.Ala3385Thr)
|
rs200762675
|
|
NM_138694.4(PKHD1):c.10156+20A>C
|
|
|
NM_138694.4(PKHD1):c.10156+22398A>G
|
rs1554206689
|
|
NM_138694.4(PKHD1):c.10156+8A>G
|
|
|
NM_138694.4(PKHD1):c.10157-14_10157-12del
|
|
|
NM_138694.4(PKHD1):c.10157-1G>T
|
rs2150418842
|
|
NM_138694.4(PKHD1):c.10157-2A>G
|
rs2150418852
|
|
NM_138694.4(PKHD1):c.10157-8T>C
|
|
|
NM_138694.4(PKHD1):c.10157-9C>T
|
rs1581896913
|
|
NM_138694.4(PKHD1):c.10157-9_10157-5del
|
rs1374480151
|
|
NM_138694.4(PKHD1):c.10158T>C (p.Gly3386=)
|
|
|
NM_138694.4(PKHD1):c.10161A>G (p.Thr3387=)
|
|
|
NM_138694.4(PKHD1):c.10179A>G (p.Lys3393=)
|
|
|
NM_138694.4(PKHD1):c.10180T>C (p.Cys3394Arg)
|
|
|
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)
|
rs1772559884
|
|
NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs)
|
rs760260903
|
|
NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer)
|
rs1554183763
|
|
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs)
|
rs1057517249
|
|
NM_138694.4(PKHD1):c.10206A>T (p.Gly3402=)
|
|
|
NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu)
|
|
|
NM_138694.4(PKHD1):c.10209C>T (p.Phe3403=)
|
|
|
NM_138694.4(PKHD1):c.1020A>C (p.Gly340=)
|
|
|
NM_138694.4(PKHD1):c.10212C>T (p.Ile3404=)
|
|
|
NM_138694.4(PKHD1):c.10219C>G (p.Gln3407Glu)
|
rs781368899
|
|
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
|
|
|
NM_138694.4(PKHD1):c.10227C>T (p.Asp3409=)
|
|
|
NM_138694.4(PKHD1):c.10228C>T (p.Gln3410Ter)
|
|
|
NM_138694.4(PKHD1):c.10230A>G (p.Gln3410=)
|
rs1349645712
|
|
NM_138694.4(PKHD1):c.10233G>T (p.Val3411=)
|
rs1162292670
|
|
NM_138694.4(PKHD1):c.10236C>G (p.Val3412=)
|
rs758252697
|
|
NM_138694.4(PKHD1):c.10248T>C (p.Asp3416=)
|
|
|
NM_138694.4(PKHD1):c.10251C>A (p.Ser3417Arg)
|
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
NM_138694.4(PKHD1):c.10252G>C (p.Ala3418Pro)
|
rs776589273
|
|
NM_138694.4(PKHD1):c.10257T>C (p.Asp3419=)
|
rs2150417980
|
|
NM_138694.4(PKHD1):c.10278G>A (p.Lys3426=)
|
|
|
NM_138694.4(PKHD1):c.10281A>G (p.Leu3427=)
|
rs763463216
|
|
NM_138694.4(PKHD1):c.10284T>C (p.Tyr3428=)
|
|
|
NM_138694.4(PKHD1):c.10287A>C (p.Pro3429=)
|
|
|
NM_138694.4(PKHD1):c.10290T>G (p.Val3430=)
|
|
|
NM_138694.4(PKHD1):c.10293A>G (p.Val3431=)
|
|
|
NM_138694.4(PKHD1):c.10305T>C (p.Ser3435=)
|
|
|
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp)
|
rs756792624
|
|
NM_138694.4(PKHD1):c.10320C>G (p.Val3440=)
|
|
|
NM_138694.4(PKHD1):c.10320C>T (p.Val3440=)
|
rs368317856
|
|
NM_138694.4(PKHD1):c.10323T>C (p.Phe3441=)
|
rs1389754876
|
|
NM_138694.4(PKHD1):c.10326C>A (p.Ser3442Arg)
|
rs1581895338
|
|
NM_138694.4(PKHD1):c.10326C>T (p.Ser3442=)
|
rs1581895338
|
|
NM_138694.4(PKHD1):c.10329T>C (p.Ser3443=)
|
|
|
NM_138694.4(PKHD1):c.1032T>C (p.Thr344=)
|
|
|
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)
|
rs1446729264
|
|
NM_138694.4(PKHD1):c.10334del (p.Asn3445fs)
|
rs2150417202
|
|
NM_138694.4(PKHD1):c.10335T>C (p.Asn3445=)
|
rs1484970104
|
|
NM_138694.4(PKHD1):c.10338C>T (p.Ala3446=)
|
rs2150417110
|
|
NM_138694.4(PKHD1):c.10344T>C (p.Ile3448=)
|
|
|
NM_138694.4(PKHD1):c.10347C>T (p.Pro3449=)
|
rs1772524168
|
|
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)
|
rs765652131
|
|
NM_138694.4(PKHD1):c.10356T>C (p.Thr3452=)
|
rs2150416998
|
|
NM_138694.4(PKHD1):c.10362G>A (p.Gly3454=)
|
rs2150416958
|
|
NM_138694.4(PKHD1):c.10365A>G (p.Ser3455=)
|
rs768584059
|
|
NM_138694.4(PKHD1):c.10386C>T (p.Ile3462=)
|
|
|
NM_138694.4(PKHD1):c.10387T>C (p.Leu3463=)
|
|
|
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)
|
|
|
NM_138694.4(PKHD1):c.10388T>C (p.Leu3463Ser)
|
rs1772516071
|
|
NM_138694.4(PKHD1):c.1038C>T (p.Ala346=)
|
|
|
NM_138694.4(PKHD1):c.10392C>T (p.Pro3464=)
|
|
|
NM_138694.4(PKHD1):c.10392del (p.Ile3465fs)
|
rs2150416702
|
|
NM_138694.4(PKHD1):c.10393_10394insG (p.Ile3465fs)
|
|
|
NM_138694.4(PKHD1):c.10398G>A (p.Arg3466=)
|
|
|
NM_138694.4(PKHD1):c.10401A>G (p.Gln3467=)
|
|
|
NM_138694.4(PKHD1):c.10404C>T (p.Ile3468=)
|
rs2150416584
|
|
NM_138694.4(PKHD1):c.10407C>T (p.Thr3469=)
|
|
|
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)
|
rs553752644
|
|
NM_138694.4(PKHD1):c.10411del (p.Val3471fs)
|
rs1554183588
|
|
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)
|
rs1772510920
|
|
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs)
|
rs1057516835
|
|
NM_138694.4(PKHD1):c.10443del (p.Leu3481fs)
|
rs1554183559
|
|
NM_138694.4(PKHD1):c.10446C>A (p.Arg3482=)
|
rs1396126148
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10455A>G (p.Leu3485=)
|
|
|
NM_138694.4(PKHD1):c.10455A>T (p.Leu3485=)
|
rs1412400979
|
|
NM_138694.4(PKHD1):c.10461G>A (p.Gly3487=)
|
rs2150416145
|
|
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs)
|
rs1057517326
|
|
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser)
|
rs1581894231
|
|
NM_138694.4(PKHD1):c.10467A>G (p.Lys3489=)
|
rs2150416076
|
|
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr)
|
rs149486694
|
|
NM_138694.4(PKHD1):c.10471A>C (p.Thr3491Pro)
|
rs533977466
|
|
NM_138694.4(PKHD1):c.10475C>T (p.Ser3492Phe)
|
rs1772497198
|
|
NM_138694.4(PKHD1):c.10479G>A (p.Lys3493=)
|
|
|
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro)
|
rs1554183514
|
|
NM_138694.4(PKHD1):c.10485C>G (p.Leu3495=)
|
|
|
NM_138694.4(PKHD1):c.10494A>G (p.Val3498=)
|
|
|
NM_138694.4(PKHD1):c.10503T>C (p.His3501=)
|
rs2150415751
|
|
NM_138694.4(PKHD1):c.10505A>T (p.Glu3502Val)
|
rs1554183496
|
|
NM_138694.4(PKHD1):c.10509C>A (p.Leu3503=)
|
rs1772492211
|
|
NM_138694.4(PKHD1):c.10509C>T (p.Leu3503=)
|
|
|
NM_138694.4(PKHD1):c.10512G>A (p.Gln3504=)
|
|
|
NM_138694.4(PKHD1):c.10515C>G (p.Ser3505Arg)
|
rs139014478
|
|
NM_138694.4(PKHD1):c.1051A>C (p.Arg351=)
|
|
|
NM_138694.4(PKHD1):c.10522G>A (p.Val3508Ile)
|
|
|
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs)
|
rs1554183480
|
|
NM_138694.4(PKHD1):c.10524C>A (p.Val3508=)
|
rs1562042503
|
|
NM_138694.4(PKHD1):c.10524CTT[1] (p.Phe3509del)
|
rs1345766794
|
|
NM_138694.4(PKHD1):c.10529T>G (p.Leu3510Ter)
|
|
|
NM_138694.4(PKHD1):c.10533G>A (p.Gly3511=)
|
|
|
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=)
|
rs1581893486
|
|
NM_138694.4(PKHD1):c.10551C>A (p.Pro3517=)
|
rs951721125
|
|
NM_138694.4(PKHD1):c.10557G>A (p.Leu3519=)
|
|
|
NM_138694.4(PKHD1):c.10557G>T (p.Leu3519=)
|
|
|
NM_138694.4(PKHD1):c.10561C>T (p.Gln3521Ter)
|
rs2150415240
|
|
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs)
|
rs1554183446
|
|
NM_138694.4(PKHD1):c.10563G>A (p.Gln3521=)
|
|
|
NM_138694.4(PKHD1):c.10571C>T (p.Ser3524Phe)
|
rs1554183437
|
|
NM_138694.4(PKHD1):c.10576T>C (p.Leu3526=)
|
rs2150415149
|
|
NM_138694.4(PKHD1):c.10584T>C (p.Asn3528=)
|
|
|
NM_138694.4(PKHD1):c.10599C>A (p.Ala3533=)
|
|
|
NM_138694.4(PKHD1):c.10599C>T (p.Ala3533=)
|
rs2150415018
|
|
NM_138694.4(PKHD1):c.10602C>T (p.Asn3534=)
|
|
|
NM_138694.4(PKHD1):c.10613T>A (p.Ile3538Asn)
|
rs2150414899
|
|
NM_138694.4(PKHD1):c.10614C>T (p.Ile3538=)
|
|
|
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=)
|
rs2150414839
|
|
NM_138694.4(PKHD1):c.10626C>T (p.Leu3542=)
|
rs756511422
|
|
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser)
|
rs1554183398
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
NM_138694.4(PKHD1):c.10638C>T (p.Val3546=)
|
rs2150414721
|
|
NM_138694.4(PKHD1):c.1063G>T (p.Val355Phe)
|
rs864622679
|
|
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
|
|
|
NM_138694.4(PKHD1):c.10656C>T (p.Pro3552=)
|
rs2150414558
|
|
NM_138694.4(PKHD1):c.10657A>G (p.Ile3553Val)
|
|
|
NM_138694.4(PKHD1):c.1065C>T (p.Val355=)
|
rs2128218982
|
|
NM_138694.4(PKHD1):c.10673del (p.Gly3558fs)
|
rs2150414452
|
|
NM_138694.4(PKHD1):c.10687T>C (p.Leu3563=)
|
|
|
NM_138694.4(PKHD1):c.10688T>G (p.Leu3563Trp)
|
|
|
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter)
|
rs1554219449
|
|
NM_138694.4(PKHD1):c.10698T>G (p.Thr3566=)
|
|
|
NM_138694.4(PKHD1):c.10701G>A (p.Val3567=)
|
rs2150414169
|
|
NM_138694.4(PKHD1):c.10701G>T (p.Val3567=)
|
rs2150414169
|
|
NM_138694.4(PKHD1):c.10708del (p.Ser3570fs)
|
|
|
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)
|
rs1057516345
|
|
NM_138694.4(PKHD1):c.10717G>C (p.Glu3573Gln)
|
rs1772450315
|
|
NM_138694.4(PKHD1):c.10722del (p.Gly3575fs)
|
|
|
NM_138694.4(PKHD1):c.10724G>T (p.Gly3575Val)
|
rs886061611
|
|
NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer)
|
rs1554183320
|
|
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=)
|
rs555442845
|
|
NM_138694.4(PKHD1):c.10743C>G (p.Leu3581=)
|
|
|
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
|
rs148300854
|
|
NM_138694.4(PKHD1):c.10746A>G (p.Glu3582=)
|
rs886038724
|
|
NM_138694.4(PKHD1):c.10752A>G (p.Leu3584=)
|
|
|
NM_138694.4(PKHD1):c.10755T>C (p.Thr3585=)
|
rs2150413785
|
|
NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs)
|
rs1195276132
|
|
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)
|
rs780182068
|
|
NM_138694.4(PKHD1):c.10767G>A (p.Gln3589=)
|
|
|
NM_138694.4(PKHD1):c.10773C>G (p.Gly3591=)
|
|
|
NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter)
|
|
|
NM_138694.4(PKHD1):c.10776A>G (p.Gln3592=)
|
|
|
NM_138694.4(PKHD1):c.10798G>A (p.Glu3600Lys)
|
|
|
NM_138694.4(PKHD1):c.10806T>C (p.Pro3602=)
|
|
|
NM_138694.4(PKHD1):c.10821C>T (p.Thr3607=)
|
|
|
NM_138694.4(PKHD1):c.10824A>G (p.Leu3608=)
|
|
|
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs)
|
rs1057516652
|
|
NM_138694.4(PKHD1):c.10830C>G (p.Ala3610=)
|
rs1581891327
|
|
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu)
|
rs1298906012
|
|
NM_138694.4(PKHD1):c.10837G>A (p.Asp3613Asn)
|
|
|
NM_138694.4(PKHD1):c.10842T>C (p.Ser3614=)
|
rs1328224796
|
|
NM_138694.4(PKHD1):c.10844G>A (p.Arg3615Lys)
|
|
|
NM_138694.4(PKHD1):c.10848A>C (p.Ala3616=)
|
|
|
NM_138694.4(PKHD1):c.10850_10862dup (p.Asn3621fs)
|
|
|
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)
|
rs1554183240
|
|
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)
|
rs1554183235
|
|
NM_138694.4(PKHD1):c.10857G>A (p.Lys3619=)
|
rs1353113121
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.1085T>G (p.Phe362Cys)
|
rs752514286
|
|
NM_138694.4(PKHD1):c.10860C>T (p.Arg3620=)
|
|
|
NM_138694.4(PKHD1):c.10863T>C (p.Asn3621=)
|
rs1162414711
|
|
NM_138694.4(PKHD1):c.10870A>G (p.Thr3624Ala)
|
|
|
NM_138694.4(PKHD1):c.10872T>C (p.Thr3624=)
|
rs1772414615
|
|
NM_138694.4(PKHD1):c.10883C>G (p.Thr3628Ser)
|
|
|
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile)
|
rs147700643
|
|
NM_138694.4(PKHD1):c.10884T>A (p.Thr3628=)
|
|
|
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)
|
rs573293029
|
|
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer)
|
rs1554183204
|
|
NM_138694.4(PKHD1):c.10894A>T (p.Arg3632Ter)
|
|
|
NM_138694.4(PKHD1):c.10899A>G (p.Arg3633=)
|
rs1355929152
|
|
NM_138694.4(PKHD1):c.108G>T (p.Thr36=)
|
|
|
NM_138694.4(PKHD1):c.10925T>C (p.Met3642Thr)
|
rs1554183164
|
|
NM_138694.4(PKHD1):c.10929A>G (p.Glu3643=)
|
|
|
NM_138694.4(PKHD1):c.10937C>G (p.Ser3646Ter)
|
|
|
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs)
|
rs765390756
|
|
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
|
|
|
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)
|
rs1554219429
|
|
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)
|
rs1057517047
|
|
NM_138694.4(PKHD1):c.10976C>G (p.Ser3659Ter)
|
rs1562040106
|
|
NM_138694.4(PKHD1):c.10980A>G (p.Lys3660=)
|
|
|
NM_138694.4(PKHD1):c.10984_10987del (p.Ile3662fs)
|
rs1772384576
|
|
NM_138694.4(PKHD1):c.10986T>C (p.Ile3662=)
|
|
|
NM_138694.4(PKHD1):c.10992T>C (p.Ile3664=)
|
|
|
NM_138694.4(PKHD1):c.11004T>C (p.Asp3668=)
|
|
|
NM_138694.4(PKHD1):c.11006C>T (p.Ser3669Leu)
|
|
|
NM_138694.4(PKHD1):c.11010A>G (p.Pro3670=)
|
|
|
NM_138694.4(PKHD1):c.11013A>T (p.Thr3671=)
|
|
|
NM_138694.4(PKHD1):c.1101G>A (p.Gln367=)
|
rs201757748
|
|
NM_138694.4(PKHD1):c.11022C>T (p.Ser3674=)
|
|
|
NM_138694.4(PKHD1):c.1102G>A (p.Glu368Lys)
|
|
|
NM_138694.4(PKHD1):c.11037A>C (p.Ser3679=)
|
rs1204544455
|
|
NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=)
|
rs1204544455
|
|
NM_138694.4(PKHD1):c.11040C>A (p.Ser3680=)
|
|
|
NM_138694.4(PKHD1):c.11040C>T (p.Ser3680=)
|
rs1772372632
|
|
NM_138694.4(PKHD1):c.11044T>C (p.Ser3682Pro)
|
|
|
NM_138694.4(PKHD1):c.11046A>C (p.Ser3682=)
|
|
|
NM_138694.4(PKHD1):c.11046A>G (p.Ser3682=)
|
|
|
NM_138694.4(PKHD1):c.11060delinsTT (p.Gln3687fs)
|
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.11078T>G (p.Val3693Gly)
|
|
|
NM_138694.4(PKHD1):c.11088T>C (p.Ala3696=)
|
|
|
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
|
|
|
NM_138694.4(PKHD1):c.11091A>G (p.Gln3697=)
|
|
|
NM_138694.4(PKHD1):c.1110A>G (p.Gln370=)
|
rs976228766
|
|
NM_138694.4(PKHD1):c.11113G>A (p.Val3705Ile)
|
rs113697159
|
|
NM_138694.4(PKHD1):c.11136C>G (p.Ala3712=)
|
|
|
NM_138694.4(PKHD1):c.11136C>T (p.Ala3712=)
|
|
|
NM_138694.4(PKHD1):c.11142A>G (p.Leu3714=)
|
rs1772352719
|
|
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs)
|
rs1554183012
|
|
NM_138694.4(PKHD1):c.11169C>A (p.Gly3723=)
|
|
|
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
|
rs1582038191
|
|
NM_138694.4(PKHD1):c.11174+13T>C
|
rs2150410720
|
|
NM_138694.4(PKHD1):c.11174+18T>C
|
|
|
NM_138694.4(PKHD1):c.11174+19C>T
|
|
|
NM_138694.4(PKHD1):c.11174+2T>C
|
rs2150410774
|
|
NM_138694.4(PKHD1):c.11174+7A>C
|
rs1772347758
|
|
NM_138694.4(PKHD1):c.11174+9T>G
|
|
|
NM_138694.4(PKHD1):c.11174_11175-4798del
|
|
|
NM_138694.4(PKHD1):c.11175-12T>C
|
rs1424171216
|
|
NM_138694.4(PKHD1):c.11175-16T>C
|
|
|
NM_138694.4(PKHD1):c.11175-17G>A
|
|
|
NM_138694.4(PKHD1):c.11175-2A>G
|
|
|
NM_138694.4(PKHD1):c.11178T>A (p.Asn3726Lys)
|
|
|
NM_138694.4(PKHD1):c.1118+1G>T
|
rs1808826795
|
|
NM_138694.4(PKHD1):c.1118+9T>G
|
rs1179399370
|
|
NM_138694.4(PKHD1):c.1119-15T>C
|
|
|
NM_138694.4(PKHD1):c.1119-16A>G
|
|
|
NM_138694.4(PKHD1):c.1119-17T>C
|
|
|
NM_138694.4(PKHD1):c.1119-20C>A
|
|
|
NM_138694.4(PKHD1):c.1119-4A>G
|
rs2128215709
|
|
NM_138694.4(PKHD1):c.1119-7T>G
|
|
|
NM_138694.4(PKHD1):c.1119-9A>G
|
rs1190120876
|
|
NM_138694.4(PKHD1):c.11190T>C (p.Phe3730=)
|
|
|
NM_138694.4(PKHD1):c.11193A>G (p.Lys3731=)
|
rs2150367323
|
|
NM_138694.4(PKHD1):c.11202C>T (p.Asn3734=)
|
|
|
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs)
|
rs1554176517
|
|
NM_138694.4(PKHD1):c.11217G>A (p.Arg3739=)
|
rs958665190
|
|
NM_138694.4(PKHD1):c.11217G>T (p.Arg3739=)
|
rs958665190
|
|
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)
|
rs1554176504
|
|
NM_138694.4(PKHD1):c.11219C>T (p.Pro3740Leu)
|
rs2150367118
|
|
NM_138694.4(PKHD1):c.11220C>T (p.Pro3740=)
|
rs1770533755
|
|
NM_138694.4(PKHD1):c.11223T>G (p.Tyr3741Ter)
|
rs778676351
|
|
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)
|
rs1320401077
|
|
NM_138694.4(PKHD1):c.11241C>T (p.Val3747=)
|
rs2150366969
|
|
NM_138694.4(PKHD1):c.11247T>G (p.Pro3749=)
|
rs2150366924
|
|
NM_138694.4(PKHD1):c.11252A>T (p.Asp3751Val)
|
|
|
NM_138694.4(PKHD1):c.11255G>C (p.Gly3752Ala)
|
|
|
NM_138694.4(PKHD1):c.1125G>C (p.Arg375=)
|
rs1265981778
|
|
NM_138694.4(PKHD1):c.11271G>A (p.Glu3757=)
|
rs2150366821
|
|
NM_138694.4(PKHD1):c.11274T>C (p.Leu3758=)
|
rs2150366813
|
|
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs)
|
rs1554176343
|
|
NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu)
|
|
|
NM_138694.4(PKHD1):c.11289A>G (p.Gln3763=)
|
rs761950483
|
|
NM_138694.4(PKHD1):c.11307G>T (p.Glu3769Asp)
|
rs1489049173
|
|
NM_138694.4(PKHD1):c.11310+11A>G
|
|
|
NM_138694.4(PKHD1):c.11310+12C>A
|
|
|
NM_138694.4(PKHD1):c.11310+15G>A
|
|
|
NM_138694.4(PKHD1):c.11310+15G>T
|
|
|
NM_138694.4(PKHD1):c.11310+1G>C
|
rs1365407882
|
|
NM_138694.4(PKHD1):c.11310+20A>G
|
|
|
NM_138694.4(PKHD1):c.11310+8T>G
|
rs2150366228
|
|
NM_138694.4(PKHD1):c.11310G>C (p.Gln3770His)
|
|
|
NM_138694.4(PKHD1):c.11311-10C>T
|
|
|
NM_138694.4(PKHD1):c.11311-11C>T
|
|
|
NM_138694.4(PKHD1):c.11311-15T>G
|
|
|
NM_138694.4(PKHD1):c.11311-16C>G
|
|
|
NM_138694.4(PKHD1):c.11311-17C>T
|
|
|
NM_138694.4(PKHD1):c.11311-20C>T
|
|
|
NM_138694.4(PKHD1):c.11311-2A>G
|
rs1554174903
|
|
NM_138694.4(PKHD1):c.11314C>A (p.Arg3772=)
|
rs199839578
|
|
NM_138694.4(PKHD1):c.11319A>T (p.Arg3773Ser)
|
|
|
NM_138694.4(PKHD1):c.1131T>G (p.Ser377Arg)
|
|
|
NM_138694.4(PKHD1):c.1131_1132insA (p.Gly378fs)
|
rs2128215670
|
|
NM_138694.4(PKHD1):c.11322A>G (p.Val3774=)
|
rs1388812392
|
|
NM_138694.4(PKHD1):c.11325G>A (p.Glu3775=)
|
|
|
NM_138694.4(PKHD1):c.11328C>T (p.Ser3776=)
|
rs2150363216
|
|
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs)
|
rs1554174796
|
|
NM_138694.4(PKHD1):c.11331G>T (p.Leu3777=)
|
rs1445856949
|
|
NM_138694.4(PKHD1):c.11337T>A (p.Pro3779=)
|
rs2150363135
|
|
NM_138694.4(PKHD1):c.11343A>G (p.Ser3781=)
|
|
|
NM_138694.4(PKHD1):c.11349A>G (p.Pro3783=)
|
rs2150363058
|
|
NM_138694.4(PKHD1):c.11361A>G (p.Ser3787=)
|
rs779333397
|
|
NM_138694.4(PKHD1):c.11364T>C (p.Ala3788=)
|
|
|
NM_138694.4(PKHD1):c.11364T>G (p.Ala3788=)
|
|
|
NM_138694.4(PKHD1):c.11368C>T (p.Leu3790=)
|
rs2150362985
|
|
NM_138694.4(PKHD1):c.1136dup (p.Phe380fs)
|
|
|
NM_138694.4(PKHD1):c.11370G>A (p.Leu3790=)
|
|
|
NM_138694.4(PKHD1):c.11379A>G (p.Ala3793=)
|
rs2150362943
|
|
NM_138694.4(PKHD1):c.1137C>T (p.Phe379=)
|
|
|
NM_138694.4(PKHD1):c.11383G>A (p.Asp3795Asn)
|
|
|
NM_138694.4(PKHD1):c.11385C>T (p.Asp3795=)
|
rs1441850377
|
|
NM_138694.4(PKHD1):c.11387C>T (p.Ser3796Leu)
|
|
|
NM_138694.4(PKHD1):c.11388A>C (p.Ser3796=)
|
|
|
NM_138694.4(PKHD1):c.11388A>G (p.Ser3796=)
|
rs1581825562
|
|
NM_138694.4(PKHD1):c.11398+13T>C
|
|
|
NM_138694.4(PKHD1):c.11398+15del
|
|
|
NM_138694.4(PKHD1):c.11398+7A>G
|
|
|
NM_138694.4(PKHD1):c.11399-10T>C
|
|
|
NM_138694.4(PKHD1):c.11399-10dup
|
rs2150329687
|
|
NM_138694.4(PKHD1):c.11399-12A>G
|
|
|
NM_138694.4(PKHD1):c.11399-12A>T
|
|
|
NM_138694.4(PKHD1):c.11399-17T>C
|
|
|
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu)
|
rs1554169587
|
|
NM_138694.4(PKHD1):c.11400G>T (p.Gly3800=)
|
rs149427926
|
|
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter)
|
rs1215290114
|
|
NM_138694.4(PKHD1):c.11408dup (p.Ala3804fs)
|
rs2150329535
|
|
NM_138694.4(PKHD1):c.11415A>G (p.Glu3805=)
|
|
|
NM_138694.4(PKHD1):c.11416del (p.Thr3806fs)
|
|
|
NM_138694.4(PKHD1):c.11430T>C (p.Tyr3810=)
|
|
|
NM_138694.4(PKHD1):c.11435_11441del (p.Ser3812fs)
|
|
|
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs)
|
rs1554169567
|
|
NM_138694.4(PKHD1):c.1143G>A (p.Val381=)
|
|
|
NM_138694.4(PKHD1):c.11446T>C (p.Leu3816=)
|
|
|
NM_138694.4(PKHD1):c.11451A>C (p.Ala3817=)
|
|
|
NM_138694.4(PKHD1):c.11451A>G (p.Ala3817=)
|
|
|
NM_138694.4(PKHD1):c.11451A>T (p.Ala3817=)
|
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_138694.4(PKHD1):c.11454C>T (p.Val3818=)
|
rs2150329240
|
|
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
|
|
|
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter)
|
rs2150329160
|
|
NM_138694.4(PKHD1):c.1146T>C (p.Ala382=)
|
|
|
NM_138694.4(PKHD1):c.11472C>T (p.Asn3824=)
|
rs2150329148
|
|
NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter)
|
rs1768958447
|
|
NM_138694.4(PKHD1):c.11477A>G (p.His3826Arg)
|
rs1012338385
|
|
NM_138694.4(PKHD1):c.11481T>C (p.Phe3827=)
|
|
|
NM_138694.4(PKHD1):c.11483T>C (p.Ile3828Thr)
|
|
|
NM_138694.4(PKHD1):c.11487T>C (p.Phe3829=)
|
|
|
NM_138694.4(PKHD1):c.11490T>G (p.Thr3830=)
|
|
|
NM_138694.4(PKHD1):c.11499T>C (p.Ser3833=)
|
rs2150328991
|
|
NM_138694.4(PKHD1):c.1149A>C (p.Pro383=)
|
rs772759635
|
|
NM_138694.4(PKHD1):c.1149A>G (p.Pro383=)
|
rs772759635
|
|
NM_138694.4(PKHD1):c.11506+10T>C
|
rs1768953580
|
|
NM_138694.4(PKHD1):c.11506+12C>T
|
|
|
NM_138694.4(PKHD1):c.11506+16G>A
|
|
|
NM_138694.4(PKHD1):c.11506+18G>A
|
|
|
NM_138694.4(PKHD1):c.11506+19C>A
|
|
|
NM_138694.4(PKHD1):c.11506+32dup
|
rs376358912
|
|
NM_138694.4(PKHD1):c.11506+9A>T
|
|
|
NM_138694.4(PKHD1):c.11507-10C>G
|
rs1768075438
|
|
NM_138694.4(PKHD1):c.11507-12del
|
rs771337119
|
|
NM_138694.4(PKHD1):c.11507-14T>G
|
|
|
NM_138694.4(PKHD1):c.11507-16C>A
|
|
|
NM_138694.4(PKHD1):c.11507-16_11507-14del
|
|
|
NM_138694.4(PKHD1):c.11507-1G>A
|
rs2150304734
|
|
NM_138694.4(PKHD1):c.11507-2A>T
|
|
|
NM_138694.4(PKHD1):c.11507-4A>C
|
rs570641132
|
|
NM_138694.4(PKHD1):c.11507-6C>T
|
rs2150304766
|
|
NM_138694.4(PKHD1):c.11507-7G>A
|
rs373438297
|
|
NM_138694.4(PKHD1):c.11507-9C>T
|
rs1041335451
|
|
NM_138694.4(PKHD1):c.11511C>G (p.Val3837=)
|
|
|
NM_138694.4(PKHD1):c.11517T>C (p.Phe3839=)
|
|
|
NM_138694.4(PKHD1):c.11525G>A (p.Arg3842Gln)
|
rs76572975
|
|
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)
|
rs76572975
|
|
NM_138694.4(PKHD1):c.11526A>C (p.Arg3842=)
|
rs2150304592
|
|
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser)
|
rs548244367
|
|
NM_138694.4(PKHD1):c.11553G>A (p.Val3851=)
|
rs772449007
|
|
NM_138694.4(PKHD1):c.11563_11565del (p.Glu3855del)
|
|
|
NM_138694.4(PKHD1):c.11566A>T (p.Lys3856Ter)
|
rs1409782065
|
|
NM_138694.4(PKHD1):c.11571G>C (p.Ser3857=)
|
rs749306806
|
|
NM_138694.4(PKHD1):c.11577C>T (p.Ile3859=)
|
|
|
NM_138694.4(PKHD1):c.1157del (p.Asn386fs)
|
rs2128215604
|
|
NM_138694.4(PKHD1):c.11580C>A (p.Ile3860=)
|
|
|
NM_138694.4(PKHD1):c.11589T>C (p.Ala3863=)
|
rs2150304215
|
|
NM_138694.4(PKHD1):c.11592C>A (p.Ser3864=)
|
rs2150304202
|
|
NM_138694.4(PKHD1):c.11593C>T (p.Leu3865=)
|
rs2150304186
|
|
NM_138694.4(PKHD1):c.11595G>A (p.Leu3865=)
|
|
|
NM_138694.4(PKHD1):c.11598C>G (p.Ser3866=)
|
|
|
NM_138694.4(PKHD1):c.11607C>A (p.Ala3869=)
|
rs752509045
|
|
NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile)
|
|
|
NM_138694.4(PKHD1):c.11610A>G (p.Ser3870=)
|
rs1267285790
|
|
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)
|
rs1554167673
|
|
NM_138694.4(PKHD1):c.11613G>A (p.Trp3871Ter)
|
|
|
NM_138694.4(PKHD1):c.11614C>T (p.Leu3872=)
|
|
|
NM_138694.4(PKHD1):c.11619T>A (p.Ala3873=)
|
|
|
NM_138694.4(PKHD1):c.11625C>T (p.Ser3875=)
|
rs2150303981
|
|
NM_138694.4(PKHD1):c.11652A>G (p.Arg3884=)
|
rs2150303878
|
|
NM_138694.4(PKHD1):c.11665+13T>G
|
|
|
NM_138694.4(PKHD1):c.11665+16T>A
|
|
|
NM_138694.4(PKHD1):c.11665+17T>G
|
|
|
NM_138694.4(PKHD1):c.11665+17_11665+18dup
|
|
|
NM_138694.4(PKHD1):c.11665+18T>A
|
|
|
NM_138694.4(PKHD1):c.11665+18del
|
|
|
NM_138694.4(PKHD1):c.11665+8G>T
|
|
|
NM_138694.4(PKHD1):c.11665+9dup
|
rs373325476
|
|
NM_138694.4(PKHD1):c.11666-10A>G
|
|
|
NM_138694.4(PKHD1):c.11666-14C>A
|
|
|
NM_138694.4(PKHD1):c.11666-17C>G
|
|
|
NM_138694.4(PKHD1):c.11666-17del
|
|
|
NM_138694.4(PKHD1):c.11666-593_11752del
|
rs2150277532
|
|
NM_138694.4(PKHD1):c.11666-7A>G
|
|
|
NM_138694.4(PKHD1):c.11668A>G (p.Thr3890Ala)
|
rs2150278411
|
|
NM_138694.4(PKHD1):c.11670A>G (p.Thr3890=)
|
|
|
NM_138694.4(PKHD1):c.11685del (p.Pro3896fs)
|
|
|
NM_138694.4(PKHD1):c.11691A>G (p.Glu3897=)
|
rs1767339238
|
|
NM_138694.4(PKHD1):c.11697G>A (p.Gln3899=)
|
|
|
NM_138694.4(PKHD1):c.11697_11785+527delinsTTAGG
|
|
|
NM_138694.4(PKHD1):c.11709A>G (p.Gln3903=)
|
rs1767335404
|
|
NM_138694.4(PKHD1):c.11712T>C (p.Asn3904=)
|
rs778301360
|
|
NM_138694.4(PKHD1):c.11721C>T (p.Ile3907=)
|
|
|
NM_138694.4(PKHD1):c.11733C>G (p.Ser3911=)
|
|
|
NM_138694.4(PKHD1):c.11736A>G (p.Lys3912=)
|
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11760A>G (p.Lys3920=)
|
|
|
NM_138694.4(PKHD1):c.11763A>G (p.Lys3921=)
|
rs2150277345
|
|
NM_138694.4(PKHD1):c.11766del (p.Asp3923fs)
|
|
|
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly)
|
rs1561981487
|
|
NM_138694.4(PKHD1):c.11769C>T (p.Asp3923=)
|
rs2150277302
|
|
NM_138694.4(PKHD1):c.11774_11775del (p.Val3925fs)
|
rs1554165849
|
|
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)
|
rs1057517324
|
|
NM_138694.4(PKHD1):c.11785+11A>C
|
|
|
NM_138694.4(PKHD1):c.11785+12G>A
|
|
|
NM_138694.4(PKHD1):c.11785+13G>A
|
|
|
NM_138694.4(PKHD1):c.11785+17G>A
|
|
|
NM_138694.4(PKHD1):c.11785+18A>G
|
|
|
NM_138694.4(PKHD1):c.11785+19G>T
|
|
|
NM_138694.4(PKHD1):c.11785+1G>T
|
rs1488844530
|
|
NM_138694.4(PKHD1):c.11785+20A>G
|
|
|
NM_138694.4(PKHD1):c.11786-16T>C
|
|
|
NM_138694.4(PKHD1):c.11786-17A>G
|
|
|
NM_138694.4(PKHD1):c.11786-18T>G
|
|
|
NM_138694.4(PKHD1):c.11786-20C>T
|
|
|
NM_138694.4(PKHD1):c.11786-21_11786-10del
|
|
|
NM_138694.4(PKHD1):c.11786-2del
|
rs1554163591
|
|
NM_138694.4(PKHD1):c.11786-3del
|
rs1451393969
|
|
NM_138694.4(PKHD1):c.11786-3dup
|
rs1451393969
|
|
NM_138694.4(PKHD1):c.11786-4C>A
|
rs777439001
|
|
NM_138694.4(PKHD1):c.11786-4C>G
|
rs777439001
|
|
NM_138694.4(PKHD1):c.11786-5C>T
|
|
|
NM_138694.4(PKHD1):c.11786-6C>G
|
|
|
NM_138694.4(PKHD1):c.11786-6C>T
|
rs1466513302
|
|
NM_138694.4(PKHD1):c.11786-8C>A
|
|
|
NM_138694.4(PKHD1):c.11786-9del
|
|
|
NM_138694.4(PKHD1):c.11799G>A (p.Lys3933=)
|
rs1766347811
|
|
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)
|
rs1582024305
|
|
NM_138694.4(PKHD1):c.11811C>A (p.Gly3937=)
|
rs779069598
|
|
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=)
|
rs779069598
|
|
NM_138694.4(PKHD1):c.11820C>T (p.Asn3940=)
|
|
|
NM_138694.4(PKHD1):c.11821C>T (p.Gln3941Ter)
|
|
|
NM_138694.4(PKHD1):c.11826C>T (p.Cys3942=)
|
|
|
NM_138694.4(PKHD1):c.11828C>G (p.Pro3943Arg)
|
rs2150241950
|
|
NM_138694.4(PKHD1):c.11830del (p.His3944fs)
|
rs774086520
|
|
NM_138694.4(PKHD1):c.11832C>T (p.His3944=)
|
|
|
NM_138694.4(PKHD1):c.11850G>A (p.Val3950=)
|
|
|
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe)
|
rs769223833
|
|
NM_138694.4(PKHD1):c.11865T>C (p.Val3955=)
|
rs2150241621
|
|
NM_138694.4(PKHD1):c.11871C>T (p.Arg3957=)
|
rs2150241531
|
|
NM_138694.4(PKHD1):c.11877T>C (p.Ile3959=)
|
rs2150241501
|
|
NM_138694.4(PKHD1):c.11883A>T (p.Arg3961=)
|
|
|
NM_138694.4(PKHD1):c.11885A>G (p.Glu3962Gly)
|
rs886061608
|
|
NM_138694.4(PKHD1):c.11886G>A (p.Glu3962=)
|
rs2150241367
|
|
NM_138694.4(PKHD1):c.11888A>T (p.Glu3963Val)
|
|
|
NM_138694.4(PKHD1):c.11896G>A (p.Ala3966Thr)
|
|
|
NM_138694.4(PKHD1):c.11899_11907del (p.Val3967_Ala3969del)
|
rs1457757188
|
|
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=)
|
rs751385266
|
|
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=)
|
rs2150241037
|
|
NM_138694.4(PKHD1):c.11935G>A (p.Gly3979Arg)
|
rs2150240920
|
|
NM_138694.4(PKHD1):c.11937G>C (p.Gly3979=)
|
rs1766326928
|
|
NM_138694.4(PKHD1):c.11937G>T (p.Gly3979=)
|
|
|
NM_138694.4(PKHD1):c.11952A>G (p.Pro3984=)
|
|
|
NM_138694.4(PKHD1):c.11952_11954del (p.Gly3985del)
|
rs1329790948
|
|
NM_138694.4(PKHD1):c.11958T>A (p.Ala3986=)
|
rs1766324047
|
|
NM_138694.4(PKHD1):c.11961T>G (p.Pro3987=)
|
|
|
NM_138694.4(PKHD1):c.1197C>T (p.Ser399=)
|
rs1582024119
|
|
NM_138694.4(PKHD1):c.1197del (p.Leu400fs)
|
rs766857175
|
|
NM_138694.4(PKHD1):c.11986_12003del (p.Thr3996_Glu4001del)
|
rs1554163379
|
|
NM_138694.4(PKHD1):c.11991G>A (p.Gly3997=)
|
rs2150240397
|
|
NM_138694.4(PKHD1):c.11991G>C (p.Gly3997=)
|
rs2150240397
|
|
NM_138694.4(PKHD1):c.11994C>T (p.Asn3998=)
|
|
|
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
|
|
|
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)
|
rs1554229312
|
|
NM_138694.4(PKHD1):c.12014A>C (p.Gln4005Pro)
|
|
|
NM_138694.4(PKHD1):c.12021C>T (p.Leu4007=)
|
rs761543328
|
|
NM_138694.4(PKHD1):c.12030G>A (p.Gln4010=)
|
rs1232544199
|
|
NM_138694.4(PKHD1):c.12052C>T (p.Leu4018=)
|
rs2150239728
|
|
NM_138694.4(PKHD1):c.12057G>A (p.Leu4019=)
|
|
|
NM_138694.4(PKHD1):c.1205del (p.Phe402fs)
|
rs1057517178
|
|
NM_138694.4(PKHD1):c.12069C>T (p.Asp4023=)
|
rs781101323
|
|
NM_138694.4(PKHD1):c.12084G>A (p.Arg4028=)
|
rs2150239512
|
|
NM_138694.4(PKHD1):c.12099del (p.Gln4034fs)
|
rs1554163298
|
|
NM_138694.4(PKHD1):c.12106C>A (p.Arg4036=)
|
|
|
NM_138694.4(PKHD1):c.12108G>A (p.Arg4036=)
|
|
|
NM_138694.4(PKHD1):c.12108G>T (p.Arg4036=)
|
rs752237108
|
|
NM_138694.4(PKHD1):c.12118C>T (p.Gln4040Ter)
|
rs1554163280
|
|
NM_138694.4(PKHD1):c.12120A>C (p.Gln4040His)
|
|
|
NM_138694.4(PKHD1):c.12129C>T (p.Ser4043=)
|
rs2150239185
|
|
NM_138694.4(PKHD1):c.12135G>A (p.Gly4045=)
|
|
|
NM_138694.4(PKHD1):c.12135G>T (p.Gly4045=)
|
|
|
NM_138694.4(PKHD1):c.12141C>T (p.Ser4047=)
|
|
|
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
|
|
|
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=)
|
rs1561967407
|
|
NM_138694.4(PKHD1):c.12156C>T (p.Ala4052=)
|
rs2150238899
|
|
NM_138694.4(PKHD1):c.1215A>G (p.Ser405=)
|
rs1582023947
|
|
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter)
|
rs745888824
|
|
NM_138694.4(PKHD1):c.12166del (p.Ala4056fs)
|
rs1554163223
|
|
NM_138694.4(PKHD1):c.12168C>T (p.Ala4056=)
|
|
|
NM_138694.4(PKHD1):c.12174G>A (p.Glu4058=)
|
rs1766290025
|
|
NM_138694.4(PKHD1):c.12180C>T (p.Phe4060=)
|
rs2150238636
|
|
NM_138694.4(PKHD1):c.12183C>T (p.Cys4061=)
|
|
|
NM_138694.4(PKHD1):c.12189T>C (p.His4063=)
|
rs2150238582
|
|
NM_138694.4(PKHD1):c.12192A>G (p.Ser4064=)
|
rs2150238541
|
|
NM_138694.4(PKHD1):c.12195A>G (p.Val4065=)
|
rs1309328277
|
|
NM_138694.4(PKHD1):c.12216G>A (p.Glu4072=)
|
rs1414284194
|
|
NM_138694.4(PKHD1):c.12222G>A (p.Leu4074=)
|
|
|
NM_138694.4(PKHD1):c.1227del (p.Thr410fs)
|
rs1808421350
|
|
NM_138694.4(PKHD1):c.1233+14T>G
|
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.1233+6dup
|
|
|
NM_138694.4(PKHD1):c.1233+8C>G
|
rs1363285265
|
|
NM_138694.4(PKHD1):c.1233+99_1694-441del
|
|
|
NM_138694.4(PKHD1):c.1234-10T>C
|
rs4715272
|
|
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC
|
rs1554217929
|
|
NM_138694.4(PKHD1):c.1234-16G>A
|
|
|
NM_138694.4(PKHD1):c.1234-17T>C
|
|
|
NM_138694.4(PKHD1):c.1234-19T>C
|
|
|
NM_138694.4(PKHD1):c.1234-4A>G
|
|
|
NM_138694.4(PKHD1):c.1236G>C (p.Val412=)
|
|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
NM_138694.4(PKHD1):c.1251C>T (p.Ile417=)
|
|
|
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)
|
rs138672830
|
|
NM_138694.4(PKHD1):c.1258G>A (p.Gly420Ser)
|
|
|
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg)
|
rs140458350
|
|
NM_138694.4(PKHD1):c.1260del (p.Thr421fs)
|
|
|
NM_138694.4(PKHD1):c.126del (p.Phe42fs)
|
rs760586271
|
|
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
|
|
|
NM_138694.4(PKHD1):c.1275T>C (p.Phe425=)
|
rs1582013811
|
|
NM_138694.4(PKHD1):c.1278C>T (p.Asp426=)
|
rs199527252
|
|
NM_138694.4(PKHD1):c.1287G>A (p.Glu429=)
|
|
|
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter)
|
rs2128212671
|
|
NM_138694.4(PKHD1):c.1296G>A (p.Arg432=)
|
|
|
NM_138694.4(PKHD1):c.130+11G>A
|
|
|
NM_138694.4(PKHD1):c.130+11G>T
|
|
|
NM_138694.4(PKHD1):c.130+12T>A
|
|
|
NM_138694.4(PKHD1):c.130+12T>C
|
|
|
NM_138694.4(PKHD1):c.130+16A>G
|
|
|
NM_138694.4(PKHD1):c.130+16dup
|
|
|
NM_138694.4(PKHD1):c.130+17C>T
|
|
|
NM_138694.4(PKHD1):c.130+7T>G
|
rs756215641
|
|
NM_138694.4(PKHD1):c.130+8G>T
|
rs2128244571
|
|
NM_138694.4(PKHD1):c.1305del (p.Thr436fs)
|
rs1808150555
|
|
NM_138694.4(PKHD1):c.1308C>G (p.Thr436=)
|
rs2128212610
|
|
NM_138694.4(PKHD1):c.131-10C>T
|
|
|
NM_138694.4(PKHD1):c.131-11C>T
|
|
|
NM_138694.4(PKHD1):c.131-12C>T
|
|
|
NM_138694.4(PKHD1):c.131-16C>A
|
|
|
NM_138694.4(PKHD1):c.131-5G>A
|
|
|
NM_138694.4(PKHD1):c.1317G>A (p.Gln439=)
|
|
|
NM_138694.4(PKHD1):c.1326C>T (p.Pro442=)
|
|
|
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg)
|
rs1554217772
|
|
NM_138694.4(PKHD1):c.1338G>C (p.Leu446=)
|
|
|
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
|
rs1582013246
|
|
NM_138694.4(PKHD1):c.1339T>C (p.Leu447=)
|
rs1211005789
|
|
NM_138694.4(PKHD1):c.134_154delinsAG (p.Leu45_Pro52delinsTer)
|
rs1812193678
|
|
NM_138694.4(PKHD1):c.1350del (p.Met451fs)
|
|
|
NM_138694.4(PKHD1):c.1353G>A (p.Met451Ile)
|
rs886061622
|
|
NM_138694.4(PKHD1):c.1356C>G (p.Tyr452Ter)
|
|
|
NM_138694.4(PKHD1):c.1359C>T (p.Tyr453=)
|
|
|
NM_138694.4(PKHD1):c.1377T>C (p.His459=)
|
|
|
NM_138694.4(PKHD1):c.1380G>A (p.Gly460=)
|
|
|
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=)
|
rs1393535530
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1398G>T (p.Gly466=)
|
|
|
NM_138694.4(PKHD1):c.1403G>A (p.Arg468Lys)
|
rs765645325
|
|
NM_138694.4(PKHD1):c.1409del (p.Gly470fs)
|
rs1057516975
|
|
NM_138694.4(PKHD1):c.1414C>T (p.Gln472Ter)
|
|
|
NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser)
|
|
|
NM_138694.4(PKHD1):c.1432C>T (p.Leu478=)
|
rs2128212175
|
|
NM_138694.4(PKHD1):c.1449C>T (p.Val483=)
|
rs1371241995
|
|
NM_138694.4(PKHD1):c.1455T>C (p.Thr485=)
|
rs1582011928
|
|
NM_138694.4(PKHD1):c.1459C>T (p.Leu487=)
|
|
|
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro)
|
rs186202437
|
|
NM_138694.4(PKHD1):c.1464G>A (p.Arg488=)
|
|
|
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro)
|
rs886039888
|
|
NM_138694.4(PKHD1):c.1473C>T (p.His491=)
|
rs368613297
|
|
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup)
|
rs1554217514
|
|
NM_138694.4(PKHD1):c.1481G>A (p.Arg494Gln)
|
|
|
NM_138694.4(PKHD1):c.1485C>T (p.Val495=)
|
|
|
NM_138694.4(PKHD1):c.1491C>T (p.Ala497=)
|
rs1808109375
|
|
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
|
|
|
NM_138694.4(PKHD1):c.1503A>G (p.Pro501=)
|
rs199736501
|
|
NM_138694.4(PKHD1):c.1512+10T>C
|
rs2128211962
|
|
NM_138694.4(PKHD1):c.1512+17A>T
|
|
|
NM_138694.4(PKHD1):c.1512+7G>A
|
|
|
NM_138694.4(PKHD1):c.1512+7G>T
|
rs1582011158
|
|
NM_138694.4(PKHD1):c.1513-11G>C
|
|
|
NM_138694.4(PKHD1):c.1513-1G>A
|
|
|
NM_138694.4(PKHD1):c.1513-20G>A
|
|
|
NM_138694.4(PKHD1):c.1513-3del
|
rs2128209912
|
|
NM_138694.4(PKHD1):c.1513-7T>C
|
|
|
NM_138694.4(PKHD1):c.1524A>G (p.Val508=)
|
|
|
NM_138694.4(PKHD1):c.1527A>G (p.Ser509=)
|
rs1296512733
|
|
NM_138694.4(PKHD1):c.1529del (p.Gly510fs)
|
rs1807855713
|
|
NM_138694.4(PKHD1):c.1530C>G (p.Gly510=)
|
|
|
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter)
|
rs1582002018
|
|
NM_138694.4(PKHD1):c.1555G>A (p.Asp519Asn)
|
|
|
NM_138694.4(PKHD1):c.1560T>C (p.Asn520=)
|
rs1807847661
|
|
NM_138694.4(PKHD1):c.156C>T (p.Pro52=)
|
|
|
NM_138694.4(PKHD1):c.156dup (p.Asn53fs)
|
rs773991918
|
|
NM_138694.4(PKHD1):c.1572G>A (p.Gln524=)
|
|
|
NM_138694.4(PKHD1):c.1584A>G (p.Ala528=)
|
rs2128209728
|
|
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
|
rs141790557
|
|
NM_138694.4(PKHD1):c.1596C>T (p.Ala532=)
|
rs1234694050
|
|
NM_138694.4(PKHD1):c.159C>T (p.Asn53=)
|
|
|
NM_138694.4(PKHD1):c.15G>A (p.Leu5=)
|
rs1812540624
|
|
NM_138694.4(PKHD1):c.1600C>A (p.Leu534Met)
|
|
|
NM_138694.4(PKHD1):c.1602+10T>G
|
rs1434345139
|
|
NM_138694.4(PKHD1):c.1602+13T>C
|
|
|
NM_138694.4(PKHD1):c.1602+2T>C
|
|
|
NM_138694.4(PKHD1):c.1602+7G>C
|
|
|
NM_138694.4(PKHD1):c.1603-13T>C
|
|
|
NM_138694.4(PKHD1):c.1603-13del
|
|
|
NM_138694.4(PKHD1):c.1603-13dup
|
|
|
NM_138694.4(PKHD1):c.1603-14_1603-13del
|
rs748577508
|
|
NM_138694.4(PKHD1):c.1603-16T>G
|
|
|
NM_138694.4(PKHD1):c.1614C>A (p.Thr538=)
|
rs2128209428
|
|
NM_138694.4(PKHD1):c.1621G>T (p.Glu541Ter)
|
|
|
NM_138694.4(PKHD1):c.1623G>A (p.Glu541=)
|
|
|
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)
|
rs1554216499
|
|
NM_138694.4(PKHD1):c.1624T>C (p.Leu542=)
|
rs2128209385
|
|
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs)
|
rs777295562
|
|
NM_138694.4(PKHD1):c.1632A>G (p.Ala544=)
|
rs1582000062
|
|
NM_138694.4(PKHD1):c.1638A>G (p.Lys546=)
|
|
|
NM_138694.4(PKHD1):c.1644del (p.Lys548fs)
|
|
|
NM_138694.4(PKHD1):c.1656T>C (p.Leu552=)
|
rs2128209298
|
|
NM_138694.4(PKHD1):c.1665C>T (p.Asn555=)
|
|
|
NM_138694.4(PKHD1):c.1693+10G>T
|
rs886061621
|
|
NM_138694.4(PKHD1):c.1693+11T>C
|
|
|
NM_138694.4(PKHD1):c.1693+13G>A
|
|
|
NM_138694.4(PKHD1):c.1693+18A>T
|
rs1484052805
|
|
NM_138694.4(PKHD1):c.1693+1G>T
|
rs2128209217
|
|
NM_138694.4(PKHD1):c.1693+2T>C
|
|
|
NM_138694.4(PKHD1):c.1693+2T>G
|
rs1581999471
|
|
NM_138694.4(PKHD1):c.1693+8_1693+15del
|
rs2128209194
|
|
NM_138694.4(PKHD1):c.1694-14T>C
|
|
|
NM_138694.4(PKHD1):c.1694-18T>C
|
|
|
NM_138694.4(PKHD1):c.1694-1G>C
|
rs398124477
|
|
NM_138694.4(PKHD1):c.1694-6A>C
|
rs1279636771
|
|
NM_138694.4(PKHD1):c.1694-8G>T
|
rs2128207729
|
|
NM_138694.4(PKHD1):c.1694-9T>C
|
|
|
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter)
|
rs1581992845
|
|
NM_138694.4(PKHD1):c.1710C>T (p.Asn570=)
|
rs200592905
|
|
NM_138694.4(PKHD1):c.1714G>A (p.Asp572Asn)
|
|
|
NM_138694.4(PKHD1):c.1719G>T (p.Gly573=)
|
|
|
NM_138694.4(PKHD1):c.1728C>T (p.Thr576=)
|
rs1468634187
|
|
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
|
|
|
NM_138694.4(PKHD1):c.172T>C (p.Leu58=)
|
|
|
NM_138694.4(PKHD1):c.1743C>T (p.Pro581=)
|
rs1807608055
|
|
NM_138694.4(PKHD1):c.1746C>T (p.Phe582=)
|
rs1807607661
|
|
NM_138694.4(PKHD1):c.1749T>C (p.Cys583=)
|
rs1010128591
|
|
NM_138694.4(PKHD1):c.1755G>A (p.Arg585=)
|
|
|
NM_138694.4(PKHD1):c.1758C>T (p.Phe586=)
|
rs777015620
|
|
NM_138694.4(PKHD1):c.1773T>G (p.Pro591=)
|
rs2128207463
|
|
NM_138694.4(PKHD1):c.1779C>T (p.His593=)
|
|
|
NM_138694.4(PKHD1):c.1782T>C (p.Leu594=)
|
|
|
NM_138694.4(PKHD1):c.1785C>T (p.Val595=)
|
|
|
NM_138694.4(PKHD1):c.1791T>C (p.Thr597=)
|
|
|
NM_138694.4(PKHD1):c.1794C>T (p.Pro598=)
|
rs756083230
|
|
NM_138694.4(PKHD1):c.1797G>A (p.Pro599=)
|
|
|
NM_138694.4(PKHD1):c.1800T>C (p.Ala600=)
|
rs2128207363
|
|
NM_138694.4(PKHD1):c.1803C>G (p.Ala601=)
|
rs150333445
|
|
NM_138694.4(PKHD1):c.1809G>A (p.Lys603=)
|
|
|
NM_138694.4(PKHD1):c.1816C>A (p.Arg606=)
|
rs560133266
|
|
NM_138694.4(PKHD1):c.1817G>A (p.Arg606Gln)
|
|
|
NM_138694.4(PKHD1):c.1818G>A (p.Arg606=)
|
|
|
NM_138694.4(PKHD1):c.1820dup (p.Asp608fs)
|
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.1836+11G>A
|
|
|
NM_138694.4(PKHD1):c.1836+12T>A
|
|
|
NM_138694.4(PKHD1):c.1836+13C>T
|
|
|
NM_138694.4(PKHD1):c.1836+1G>A
|
rs780898021
|
|
NM_138694.4(PKHD1):c.1836+6dup
|
rs2128207241
|
|
NM_138694.4(PKHD1):c.1837-10G>C
|
rs749163934
|
|
NM_138694.4(PKHD1):c.1837-20G>A
|
|
|
NM_138694.4(PKHD1):c.1837-7T>C
|
rs1581982237
|
|
NM_138694.4(PKHD1):c.1837-9T>C
|
rs1581982267
|
|
NM_138694.4(PKHD1):c.1842T>C (p.Cys614=)
|
|
|
NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr)
|
|
|
NM_138694.4(PKHD1):c.1848A>G (p.Ala616=)
|
rs776570716
|
|
NM_138694.4(PKHD1):c.1849_1850dup (p.Lys618fs)
|
|
|
NM_138694.4(PKHD1):c.1854del (p.Gly619fs)
|
rs1807328785
|
|
NM_138694.4(PKHD1):c.1856del (p.Gly619fs)
|
rs1807328375
|
|
NM_138694.4(PKHD1):c.1857C>A (p.Gly619=)
|
|
|
NM_138694.4(PKHD1):c.1872C>A (p.Ile624=)
|
rs2128205413
|
|
NM_138694.4(PKHD1):c.187_189del (p.Val63del)
|
rs1554228222
|
|
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)
|
rs786204696
|
|
NM_138694.4(PKHD1):c.1884T>A (p.Ile628=)
|
|
|
NM_138694.4(PKHD1):c.1890C>T (p.Ser630=)
|
rs753208668
|
|
NM_138694.4(PKHD1):c.1896A>C (p.Thr632=)
|
rs1581981607
|
|
NM_138694.4(PKHD1):c.1896A>G (p.Thr632=)
|
|
|
NM_138694.4(PKHD1):c.1899C>T (p.Ile633=)
|
rs751853495
|
|
NM_138694.4(PKHD1):c.189G>A (p.Val63=)
|
|
|
NM_138694.4(PKHD1):c.18C>A (p.Ile6=)
|
rs752114253
|
|
NM_138694.4(PKHD1):c.1929C>G (p.Thr643=)
|
rs775144938
|
|
NM_138694.4(PKHD1):c.1940G>A (p.Ser647Asn)
|
rs1554214687
|
|
NM_138694.4(PKHD1):c.1944C>G (p.Leu648=)
|
rs1807310724
|
|
NM_138694.4(PKHD1):c.1946C>T (p.Thr649Met)
|
|
|
NM_138694.4(PKHD1):c.1947G>A (p.Thr649=)
|
|
|
NM_138694.4(PKHD1):c.1947_1952del (p.Arg650_Thr651del)
|
rs1554214650
|
|
NM_138694.4(PKHD1):c.1953_1964delCAGCCCCGAGAG (p.Ser652_Ser655del)
|
|
|
NM_138694.4(PKHD1):c.1956C>T (p.Ser652=)
|
rs2128205221
|
|
NM_138694.4(PKHD1):c.1959C>G (p.Pro653=)
|
rs940015253
|
|
NM_138694.4(PKHD1):c.195G>C (p.Val65=)
|
|
|
NM_138694.4(PKHD1):c.1964+10C>T
|
rs1377384085
|
|
NM_138694.4(PKHD1):c.1964+11G>A
|
|
|
NM_138694.4(PKHD1):c.1964+12G>A
|
|
|
NM_138694.4(PKHD1):c.1964+12G>C
|
rs572664151
|
|
NM_138694.4(PKHD1):c.1964+14G>T
|
|
|
NM_138694.4(PKHD1):c.1964+16G>A
|
|
|
NM_138694.4(PKHD1):c.1964+17G>A
|
|
|
NM_138694.4(PKHD1):c.1964+2T>C
|
|
|
NM_138694.4(PKHD1):c.1964+8A>T
|
|
|
NM_138694.4(PKHD1):c.1964+9_1964+10del
|
rs1581980784
|
|
NM_138694.4(PKHD1):c.1965-14A>G
|
|
|
NM_138694.4(PKHD1):c.1965-2A>T
|
rs2128203974
|
|
NM_138694.4(PKHD1):c.1965-9G>C
|
rs2128203987
|
|
NM_138694.4(PKHD1):c.1967G>A (p.Trp656Ter)
|
rs2128203970
|
|
NM_138694.4(PKHD1):c.1968G>T (p.Trp656Cys)
|
rs1209068432
|
|
NM_138694.4(PKHD1):c.1975G>A (p.Asp659Asn)
|
|
|
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg)
|
rs727504092
|
|
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)
|
rs1554214097
|
|
NM_138694.4(PKHD1):c.1982C>T (p.Thr661Ile)
|
rs1012552954
|
|
NM_138694.4(PKHD1):c.1983T>A (p.Thr661=)
|
|
|
NM_138694.4(PKHD1):c.1983T>C (p.Thr661=)
|
rs894149194
|
|
NM_138694.4(PKHD1):c.1986C>T (p.Asp662=)
|
|
|
NM_138694.4(PKHD1):c.1989C>T (p.Leu663=)
|
rs1393937673
|
|
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter)
|
rs2128203862
|
|
NM_138694.4(PKHD1):c.1995G>A (p.Glu665=)
|
rs2128203853
|
|
NM_138694.4(PKHD1):c.2001T>C (p.Cys667=)
|
rs1807156390
|
|
NM_138694.4(PKHD1):c.2005C>G (p.Arg669Gly)
|
rs375547868
|
|
NM_138694.4(PKHD1):c.2005C>T (p.Arg669Cys)
|
|
|
NM_138694.4(PKHD1):c.2007T>A (p.Arg669=)
|
rs2128203808
|
|
NM_138694.4(PKHD1):c.2016G>T (p.Gly672=)
|
|
|
NM_138694.4(PKHD1):c.2017del (p.Asp673fs)
|
rs1581974348
|
|
NM_138694.4(PKHD1):c.2019T>C (p.Asp673=)
|
|
|
NM_138694.4(PKHD1):c.2022C>T (p.Leu674=)
|
|
|
NM_138694.4(PKHD1):c.2046A>G (p.Pro682=)
|
rs4715271
|
|
NM_138694.4(PKHD1):c.204G>A (p.Val68=)
|
rs770342912
|
|
NM_138694.4(PKHD1):c.2059C>T (p.Gln687Ter)
|
rs2128203606
|
|
NM_138694.4(PKHD1):c.2061G>A (p.Gln687=)
|
rs2128203600
|
|
NM_138694.4(PKHD1):c.206T>C (p.Val69Ala)
|
|
|
NM_138694.4(PKHD1):c.2082C>G (p.Ala694=)
|
|
|
NM_138694.4(PKHD1):c.2085G>A (p.Gln695=)
|
|
|
NM_138694.4(PKHD1):c.2085_2086insA (p.Glu696fs)
|
rs2128203474
|
|
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)
|
rs781485593
|
|
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser)
|
rs781485593
|
|
NM_138694.4(PKHD1):c.2091G>C (p.Thr697=)
|
|
|
NM_138694.4(PKHD1):c.2094C>G (p.Gly698=)
|
|
|
NM_138694.4(PKHD1):c.2095C>T (p.Leu699=)
|
rs554137531
|
|
NM_138694.4(PKHD1):c.2097G>A (p.Leu699=)
|
rs1468446097
|
|
NM_138694.4(PKHD1):c.2097G>T (p.Leu699=)
|
rs1468446097
|
|
NM_138694.4(PKHD1):c.2106G>C (p.Val702=)
|
|
|
NM_138694.4(PKHD1):c.2107G>A (p.Asp703Asn)
|
rs2128203385
|
|
NM_138694.4(PKHD1):c.210C>A (p.Pro70=)
|
rs372103359
|
|
NM_138694.4(PKHD1):c.210dup (p.Ala71fs)
|
|
|
NM_138694.4(PKHD1):c.2120T>C (p.Ile707Thr)
|
|
|
NM_138694.4(PKHD1):c.2120T>G (p.Ile707Ser)
|
rs2128203303
|
|
NM_138694.4(PKHD1):c.2121T>C (p.Ile707=)
|
|
|
NM_138694.4(PKHD1):c.2135dup (p.Thr713fs)
|
|
|
NM_138694.4(PKHD1):c.213A>C (p.Ala71=)
|
rs779924275
|
|
NM_138694.4(PKHD1):c.213A>G (p.Ala71=)
|
rs779924275
|
|
NM_138694.4(PKHD1):c.2140+10A>G
|
rs764919618
|
|
NM_138694.4(PKHD1):c.2140+11A>C
|
|
|
NM_138694.4(PKHD1):c.2140+11A>G
|
|
|
NM_138694.4(PKHD1):c.2140+12A>G
|
|
|
NM_138694.4(PKHD1):c.2140+14TC[3]
|
|
|
NM_138694.4(PKHD1):c.2140+17C>G
|
|
|
NM_138694.4(PKHD1):c.2140+17C>T
|
|
|
NM_138694.4(PKHD1):c.2140+19C>G
|
|
|
NM_138694.4(PKHD1):c.2140+1G>A
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2140+1G>C
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2140+1G>T
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2140+7A>G
|
|
|
NM_138694.4(PKHD1):c.2140+9C>A
|
|
|
NM_138694.4(PKHD1):c.2141-10T>C
|
rs2128197098
|
|
NM_138694.4(PKHD1):c.2141-1G>A
|
rs2128197058
|
|
NM_138694.4(PKHD1):c.2141-2A>C
|
rs1554212403
|
|
NM_138694.4(PKHD1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_138694.4(PKHD1):c.2151T>C (p.Ala717=)
|
|
|
NM_138694.4(PKHD1):c.2165C>T (p.Ala722Val)
|
|
|
NM_138694.4(PKHD1):c.2168G>A (p.Arg723His)
|
rs150597050
|
|
NM_138694.4(PKHD1):c.2169C>T (p.Arg723=)
|
rs2128196956
|
|
NM_138694.4(PKHD1):c.216G>A (p.Leu72=)
|
rs2128243397
|
|
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser)
|
rs1806602099
|
|
NM_138694.4(PKHD1):c.2172A>C (p.Pro724=)
|
|
|
NM_138694.4(PKHD1):c.2172_2174del (p.Gly726del)
|
rs763682158
|
|
NM_138694.4(PKHD1):c.2172del (p.Gly726fs)
|
rs1806601043
|
|
NM_138694.4(PKHD1):c.2175G>A (p.Gly725=)
|
|
|
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs)
|
rs1581956689
|
|
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs)
|
rs2128196889
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)
|
rs1057516608
|
|
NM_138694.4(PKHD1):c.2193A>G (p.Ser731=)
|
rs2128196747
|
|
NM_138694.4(PKHD1):c.2196C>G (p.Val732=)
|
rs2128196728
|
|
NM_138694.4(PKHD1):c.2200G>T (p.Val734Leu)
|
rs1806591259
|
|
NM_138694.4(PKHD1):c.2201_2202del (p.Val734fs)
|
rs1806590811
|
|
NM_138694.4(PKHD1):c.2208A>G (p.Gly736=)
|
rs1581956327
|
|
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=)
|
rs373367366
|
|
NM_138694.4(PKHD1):c.2217G>T (p.Pro739=)
|
rs373367366
|
|
NM_138694.4(PKHD1):c.2229C>T (p.Val743=)
|
rs972076176
|
|
NM_138694.4(PKHD1):c.222T>C (p.Ser74=)
|
|
|
NM_138694.4(PKHD1):c.2235C>G (p.Ser745=)
|
|
|
NM_138694.4(PKHD1):c.2244G>T (p.Ala748=)
|
|
|
NM_138694.4(PKHD1):c.2247G>T (p.Gly749=)
|
|
|
NM_138694.4(PKHD1):c.2253C>A (p.Gly751=)
|
|
|
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter)
|
rs1806573538
|
|
NM_138694.4(PKHD1):c.2259G>A (p.Glu753=)
|
rs773611227
|
|
NM_138694.4(PKHD1):c.2262C>G (p.Leu754=)
|
rs200754084
|
|
NM_138694.4(PKHD1):c.2262C>T (p.Leu754=)
|
rs200754084
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2268C>T (p.Leu756=)
|
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2274T>C (p.Thr758=)
|
rs768985261
|
|
NM_138694.4(PKHD1):c.2279+18T>C
|
|
|
NM_138694.4(PKHD1):c.2279+9T>G
|
|
|
NM_138694.4(PKHD1):c.2280-11A>G
|
|
|
NM_138694.4(PKHD1):c.2280-1G>A
|
|
|
NM_138694.4(PKHD1):c.2280-2A>G
|
rs780675990
|
|
NM_138694.4(PKHD1):c.2280-3C>T
|
|
|
NM_138694.4(PKHD1):c.2280-9G>T
|
rs376576760
|
|
NM_138694.4(PKHD1):c.2289C>T (p.Pro763=)
|
rs2128193127
|
|
NM_138694.4(PKHD1):c.228C>T (p.Pro76=)
|
rs2128243354
|
|
NM_138694.4(PKHD1):c.2306A>G (p.Glu769Gly)
|
|
|
NM_138694.4(PKHD1):c.2307G>A (p.Glu769=)
|
rs2128193042
|
|
NM_138694.4(PKHD1):c.2310A>C (p.Gly770=)
|
|
|
NM_138694.4(PKHD1):c.2316A>T (p.Gly772=)
|
|
|
NM_138694.4(PKHD1):c.2331G>A (p.Thr777=)
|
|
|
NM_138694.4(PKHD1):c.2339_2340del (p.Arg780fs)
|
rs2128192920
|
|
NM_138694.4(PKHD1):c.2341C>G (p.Arg781Gly)
|
|
|
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs)
|
rs1554211308
|
|
NM_138694.4(PKHD1):c.2357C>T (p.Pro786Leu)
|
rs1806234590
|
|
NM_138694.4(PKHD1):c.2362C>T (p.Leu788=)
|
rs2128192820
|
|
NM_138694.4(PKHD1):c.2371C>G (p.His791Asp)
|
rs781097626
|
|
NM_138694.4(PKHD1):c.2379C>T (p.Arg793=)
|
rs2128192726
|
|
NM_138694.4(PKHD1):c.2396C>G (p.Thr799Arg)
|
rs1465053705
|
|
NM_138694.4(PKHD1):c.2397A>G (p.Thr799=)
|
|
|
NM_138694.4(PKHD1):c.2407+11G>T
|
|
|
NM_138694.4(PKHD1):c.2407+17G>A
|
|
|
NM_138694.4(PKHD1):c.2407+17G>T
|
|
|
NM_138694.4(PKHD1):c.2407+7G>A
|
rs759614775
|
|
NM_138694.4(PKHD1):c.2407+9G>A
|
|
|
NM_138694.4(PKHD1):c.2408-12C>A
|
|
|
NM_138694.4(PKHD1):c.2408-18C>A
|
|
|
NM_138694.4(PKHD1):c.2408-19T>A
|
|
|
NM_138694.4(PKHD1):c.2408-20A>G
|
|
|
NM_138694.4(PKHD1):c.2408-2A>G
|
rs1554210085
|
|
NM_138694.4(PKHD1):c.2408-5C>T
|
|
|
NM_138694.4(PKHD1):c.2408-9C>T
|
|
|
NM_138694.4(PKHD1):c.2409T>C (p.Asp803=)
|
rs562366195
|
|
NM_138694.4(PKHD1):c.2412C>A (p.Val804=)
|
|
|
NM_138694.4(PKHD1):c.2436C>T (p.His812=)
|
|
|
NM_138694.4(PKHD1):c.2442C>T (p.His814=)
|
|
|
NM_138694.4(PKHD1):c.2445G>T (p.Gln815His)
|
rs775446499
|
|
NM_138694.4(PKHD1):c.2448C>A (p.Leu816=)
|
|
|
NM_138694.4(PKHD1):c.2451A>G (p.Leu817=)
|
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2457T>C (p.Asn819=)
|
rs1805781325
|
|
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.2475A>G (p.Thr825=)
|
rs2128188451
|
|
NM_138694.4(PKHD1):c.2481G>A (p.Arg827=)
|
rs1805773357
|
|
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys)
|
rs781698219
|
|
NM_138694.4(PKHD1):c.2502C>T (p.Phe834=)
|
rs1756254637
|
|
NM_138694.4(PKHD1):c.2507_2515del (p.Val836_Glu838del)
|
rs1554209944
|
|
NM_138694.4(PKHD1):c.2514G>A (p.Glu838=)
|
|
|
NM_138694.4(PKHD1):c.2516A>G (p.Asp839Gly)
|
|
|
NM_138694.4(PKHD1):c.2523C>T (p.Tyr841=)
|
rs1398402696
|
|
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro)
|
rs1203260419
|
|
NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg)
|
|
|
NM_138694.4(PKHD1):c.2553C>T (p.Ser851=)
|
|
|
NM_138694.4(PKHD1):c.2555G>A (p.Trp852Ter)
|
|
|
NM_138694.4(PKHD1):c.2563C>T (p.Gln855Ter)
|
rs1805754682
|
|
NM_138694.4(PKHD1):c.2568T>C (p.Ile856=)
|
rs772613823
|
|
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg)
|
rs1562220663
|
|
NM_138694.4(PKHD1):c.2571G>A (p.Gly857=)
|
|
|
NM_138694.4(PKHD1):c.2583T>C (p.Asn861=)
|
rs2128188184
|
|
NM_138694.4(PKHD1):c.2590del (p.Arg864fs)
|
rs1057516709
|
|
NM_138694.4(PKHD1):c.2592+16C>T
|
|
|
NM_138694.4(PKHD1):c.2592+1G>C
|
rs758812102
|
|
NM_138694.4(PKHD1):c.2592+1G>T
|
|
|
NM_138694.4(PKHD1):c.2592+7A>G
|
rs1236604605
|
|
NM_138694.4(PKHD1):c.2592+9A>G
|
rs2128188127
|
|
NM_138694.4(PKHD1):c.2593-19A>G
|
|
|
NM_138694.4(PKHD1):c.2593-3C>T
|
rs1290670072
|
|
NM_138694.4(PKHD1):c.2593-4T>C
|
rs2128186665
|
|
NM_138694.4(PKHD1):c.2593-6T>C
|
rs2128186670
|
|
NM_138694.4(PKHD1):c.2593-7A>G
|
|
|
NM_138694.4(PKHD1):c.2595C>A (p.Val865=)
|
|
|
NM_138694.4(PKHD1):c.2597C>G (p.Ser866Cys)
|
rs776017473
|
|
NM_138694.4(PKHD1):c.2601T>C (p.Asp867=)
|
rs1805571207
|
|
NM_138694.4(PKHD1):c.2601del (p.Asp867fs)
|
|
|
NM_138694.4(PKHD1):c.2606del (p.Asn869fs)
|
|
|
NM_138694.4(PKHD1):c.2612C>G (p.Thr871Ser)
|
|
|
NM_138694.4(PKHD1):c.2619G>A (p.Val873=)
|
|
|
NM_138694.4(PKHD1):c.2626G>C (p.Ala876Pro)
|
rs1581922432
|
|
NM_138694.4(PKHD1):c.2627C>T (p.Ala876Val)
|
|
|
NM_138694.4(PKHD1):c.2628T>C (p.Ala876=)
|
rs2128186591
|
|
NM_138694.4(PKHD1):c.2636C>T (p.Thr879Met)
|
|
|
NM_138694.4(PKHD1):c.2637G>T (p.Thr879=)
|
|
|
NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro)
|
|
|
NM_138694.4(PKHD1):c.2640T>G (p.Arg880=)
|
|
|
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala)
|
rs373974753
|
|
NM_138694.4(PKHD1):c.2654G>A (p.Gly885Asp)
|
rs1307445542
|
|
NM_138694.4(PKHD1):c.2664_2665insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGGGAGAGGGAGAGGGAGCATGATGGTGGAGTTTTT (p.Leu889fs)
|
|
|
NM_138694.4(PKHD1):c.2670A>G (p.Gly890=)
|
rs751304560
|
|
NM_138694.4(PKHD1):c.2679T>C (p.Phe893=)
|
rs1282895436
|
|
NM_138694.4(PKHD1):c.2688_2696delinsA (p.Met896fs)
|
rs1805550477
|
|
NM_138694.4(PKHD1):c.2694T>C (p.Ala898=)
|
|
|
NM_138694.4(PKHD1):c.2709T>C (p.His903=)
|
rs2128186296
|
|
NM_138694.4(PKHD1):c.270A>G (p.Thr90=)
|
rs886044598
|
|
NM_138694.4(PKHD1):c.2713C>T (p.Gln905Ter)
|
rs1805547113
|
|
NM_138694.4(PKHD1):c.2715+14G>A
|
|
|
NM_138694.4(PKHD1):c.2715+15G>A
|
|
|
NM_138694.4(PKHD1):c.2715+15G>C
|
|
|
NM_138694.4(PKHD1):c.2715+1G>C
|
rs1554209188
|
|
NM_138694.4(PKHD1):c.2715+1G>T
|
|
|
NM_138694.4(PKHD1):c.2715+2_2715+14del
|
rs1057516562
|
|
NM_138694.4(PKHD1):c.2715+8T>A
|
rs2128186261
|
|
NM_138694.4(PKHD1):c.2715+9G>T
|
|
|
NM_138694.4(PKHD1):c.2716-11C>A
|
|
|
NM_138694.4(PKHD1):c.2716-12G>A
|
|
|
NM_138694.4(PKHD1):c.2716-8C>A
|
|
|
NM_138694.4(PKHD1):c.2722G>T (p.Val908Leu)
|
rs2128184282
|
|
NM_138694.4(PKHD1):c.2724G>A (p.Val908=)
|
rs2128184270
|
|
NM_138694.4(PKHD1):c.2725C>A (p.Arg909=)
|
rs727504089
|
|
NM_138694.4(PKHD1):c.2729_2731delinsCTC (p.Val910_Asn911delinsAlaHis)
|
rs2128184229
|
|
NM_138694.4(PKHD1):c.2730G>A (p.Val910=)
|
rs2128184239
|
|
NM_138694.4(PKHD1):c.2733_2734insTGCCCAGGTTCAGGT (p.Asn911_Asp912insCysProGlySerGly)
|
rs2128184195
|
|
NM_138694.4(PKHD1):c.2733del (p.Asn911fs)
|
rs2128184202
|
|
NM_138694.4(PKHD1):c.2740C>T (p.Pro914Ser)
|
|
|
NM_138694.4(PKHD1):c.2745T>C (p.Ala915=)
|
|
|
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro)
|
rs1805300035
|
|
NM_138694.4(PKHD1):c.274C>A (p.Arg92=)
|
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2763C>T (p.Cys921=)
|
rs2128184120
|
|
NM_138694.4(PKHD1):c.2766T>A (p.Ser922=)
|
|
|
NM_138694.4(PKHD1):c.276G>A (p.Arg92=)
|
rs1812170618
|
|
NM_138694.4(PKHD1):c.2775C>T (p.Tyr925=)
|
rs2128184094
|
|
NM_138694.4(PKHD1):c.2778C>G (p.Leu926=)
|
|
|
NM_138694.4(PKHD1):c.2778C>T (p.Leu926=)
|
|
|
NM_138694.4(PKHD1):c.2784G>T (p.Gly928=)
|
|
|
NM_138694.4(PKHD1):c.2796T>A (p.Cys932Ter)
|
|
|
NM_138694.4(PKHD1):c.2799C>T (p.Val933=)
|
|
|
NM_138694.4(PKHD1):c.279C>G (p.Thr93=)
|
rs1052073195
|
|
NM_138694.4(PKHD1):c.281+13G>A
|
rs1812167147
|
|
NM_138694.4(PKHD1):c.281+17A>G
|
|
|
NM_138694.4(PKHD1):c.281+19A>G
|
|
|
NM_138694.4(PKHD1):c.281+1G>T
|
|
|
NM_138694.4(PKHD1):c.281+2dup
|
rs1554228127
|
|
NM_138694.4(PKHD1):c.281+7C>A
|
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.2814C>T (p.Tyr938=)
|
rs758383397
|
|
NM_138694.4(PKHD1):c.282-16C>T
|
|
|
NM_138694.4(PKHD1):c.282-2A>T
|
rs1554227278
|
|
NM_138694.4(PKHD1):c.282-9T>G
|
|
|
NM_138694.4(PKHD1):c.2821+14C>G
|
|
|
NM_138694.4(PKHD1):c.2821+9T>C
|
rs1581914451
|
|
NM_138694.4(PKHD1):c.2822-18T>C
|
|
|
NM_138694.4(PKHD1):c.2822-1G>C
|
rs1554208257
|
|
NM_138694.4(PKHD1):c.2822-8C>T
|
rs887807149
|
|
NM_138694.4(PKHD1):c.2829C>T (p.Asp943=)
|
rs2128183054
|
|
NM_138694.4(PKHD1):c.2834A>T (p.Asn945Ile)
|
|
|
NM_138694.4(PKHD1):c.2835C>T (p.Asn945=)
|
|
|
NM_138694.4(PKHD1):c.2844T>A (p.Ile948=)
|
|
|
NM_138694.4(PKHD1):c.2846del (p.Tyr949fs)
|
rs2128182991
|
|
NM_138694.4(PKHD1):c.2847C>T (p.Tyr949=)
|
rs2128182988
|
|
NM_138694.4(PKHD1):c.2850T>C (p.Ile950=)
|
rs2128182974
|
|
NM_138694.4(PKHD1):c.2853C>A (p.Thr951=)
|
rs139815340
|
|
NM_138694.4(PKHD1):c.2853C>G (p.Thr951=)
|
rs139815340
|
|
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu)
|
|
|
NM_138694.4(PKHD1):c.285T>G (p.Ser95=)
|
rs2128240513
|
|
NM_138694.4(PKHD1):c.2862T>C (p.Gly954=)
|
rs1215569251
|
|
NM_138694.4(PKHD1):c.2886G>A (p.Leu962=)
|
|
|
NM_138694.4(PKHD1):c.2895A>G (p.Thr965=)
|
rs2128182860
|
|
NM_138694.4(PKHD1):c.2907G>A (p.Thr969=)
|
rs1805178784
|
|
NM_138694.4(PKHD1):c.2922T>C (p.Ile974=)
|
|
|
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro)
|
rs770882723
|
|
NM_138694.4(PKHD1):c.2932del (p.Gln978fs)
|
rs2128182780
|
|
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)
|
rs536715802
|
|
NM_138694.4(PKHD1):c.2940T>C (p.Asn980=)
|
rs2128182745
|
|
NM_138694.4(PKHD1):c.2946C>G (p.Val982=)
|
rs2128182722
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter)
|
rs1581910796
|
|
NM_138694.4(PKHD1):c.2957A>T (p.Asp986Val)
|
rs957113162
|
|
NM_138694.4(PKHD1):c.2967T>C (p.Pro989=)
|
|
|
NM_138694.4(PKHD1):c.2967T>G (p.Pro989=)
|
|
|
NM_138694.4(PKHD1):c.2985C>A (p.Ile995=)
|
rs2128182609
|
|
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)
|
rs2128182593
|
|
NM_138694.4(PKHD1):c.2T>C (p.Met1Thr)
|
rs2128246846
|
|
NM_138694.4(PKHD1):c.3009T>A (p.Gly1003=)
|
|
|
NM_138694.4(PKHD1):c.3009T>C (p.Gly1003=)
|
rs886042383
|
|
NM_138694.4(PKHD1):c.300A>G (p.Ala100=)
|
rs1266693517
|
|
NM_138694.4(PKHD1):c.3016A>G (p.Ile1006Val)
|
|
|
NM_138694.4(PKHD1):c.3018C>T (p.Ile1006=)
|
rs2128182475
|
|
NM_138694.4(PKHD1):c.3021T>C (p.Ser1007=)
|
|
|
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=)
|
rs559684657
|
|
NM_138694.4(PKHD1):c.3036C>T (p.Asp1012=)
|
|
|
NM_138694.4(PKHD1):c.3039C>G (p.Leu1013=)
|
|
|
NM_138694.4(PKHD1):c.3039C>T (p.Leu1013=)
|
|
|
NM_138694.4(PKHD1):c.3043C>T (p.Leu1015=)
|
rs1272367929
|
|
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
|
|
|
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=)
|
rs1581909859
|
|
NM_138694.4(PKHD1):c.3081C>T (p.Ser1027=)
|
|
|
NM_138694.4(PKHD1):c.3084A>G (p.Arg1028=)
|
rs754425809
|
|
NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu)
|
|
|
NM_138694.4(PKHD1):c.3097+10G>A
|
rs1805137705
|
|
NM_138694.4(PKHD1):c.3097+12A>C
|
|
|
NM_138694.4(PKHD1):c.3097+19C>T
|
|
|
NM_138694.4(PKHD1):c.3097+2T>C
|
rs1554207834
|
|
NM_138694.4(PKHD1):c.3098-17T>A
|
|
|
NM_138694.4(PKHD1):c.3098-18A>G
|
|
|
NM_138694.4(PKHD1):c.3098-1G>A
|
rs2128169165
|
|
NM_138694.4(PKHD1):c.3098-2A>T
|
|
|
NM_138694.4(PKHD1):c.3098-4A>T
|
|
|
NM_138694.4(PKHD1):c.3098-7G>C
|
rs2128169185
|
|
NM_138694.4(PKHD1):c.3098-8T>C
|
|
|
NM_138694.4(PKHD1):c.3099A>G (p.Gly1033=)
|
|
|
NM_138694.4(PKHD1):c.30T>C (p.Ser10=)
|
|
|
NM_138694.4(PKHD1):c.3102G>A (p.Gly1034=)
|
rs1247363369
|
|
NM_138694.4(PKHD1):c.3110CCA[1] (p.Thr1038del)
|
rs1554204118
|
|
NM_138694.4(PKHD1):c.3111C>T (p.Ala1037=)
|
rs2128169120
|
|
NM_138694.4(PKHD1):c.3118C>G (p.Arg1040Gly)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.3118del (p.Arg1040fs)
|
rs1803834984
|
|
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)
|
rs794727466
|
|
NM_138694.4(PKHD1):c.312G>A (p.Leu104=)
|
rs2128240465
|
|
NM_138694.4(PKHD1):c.312_313del (p.Tyr105fs)
|
|
|
NM_138694.4(PKHD1):c.3145C>T (p.Leu1049=)
|
rs1581870137
|
|
NM_138694.4(PKHD1):c.3147G>A (p.Leu1049=)
|
|
|
NM_138694.4(PKHD1):c.3153A>G (p.Leu1051=)
|
|
|
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)
|
|
|
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs)
|
rs1554204054
|
|
NM_138694.4(PKHD1):c.3159A>G (p.Gly1053=)
|
rs760378961
|
|
NM_138694.4(PKHD1):c.3159A>T (p.Gly1053=)
|
|
|
NM_138694.4(PKHD1):c.315C>T (p.Tyr105=)
|
rs2128240462
|
|
NM_138694.4(PKHD1):c.3165C>T (p.Tyr1055=)
|
|
|
NM_138694.4(PKHD1):c.3167C>T (p.Ser1056Leu)
|
|
|
NM_138694.4(PKHD1):c.3178A>T (p.Asn1060Tyr)
|
|
|
NM_138694.4(PKHD1):c.3180T>C (p.Asn1060=)
|
|
|
NM_138694.4(PKHD1):c.3195T>C (p.Asn1065=)
|
rs1439238243
|
|
NM_138694.4(PKHD1):c.3198A>C (p.Ser1066=)
|
rs2128168777
|
|
NM_138694.4(PKHD1):c.3198A>G (p.Ser1066=)
|
rs2128168777
|
|
NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)
|
|
|
NM_138694.4(PKHD1):c.3204A>G (p.Arg1068=)
|
|
|
NM_138694.4(PKHD1):c.3223C>G (p.Pro1075Ala)
|
rs1229292183
|
|
NM_138694.4(PKHD1):c.3225C>G (p.Pro1075=)
|
|
|
NM_138694.4(PKHD1):c.3225del (p.Arg1076fs)
|
|
|
NM_138694.4(PKHD1):c.3228+13C>T
|
|
|
NM_138694.4(PKHD1):c.3228+18A>G
|
|
|
NM_138694.4(PKHD1):c.3228+1G>C
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3228+1G>T
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3228+20A>G
|
|
|
NM_138694.4(PKHD1):c.3228+7G>A
|
|
|
NM_138694.4(PKHD1):c.3228+8G>A
|
|
|
NM_138694.4(PKHD1):c.3228+9A>C
|
rs374110822
|
|
NM_138694.4(PKHD1):c.3228+9A>G
|
|
|
NM_138694.4(PKHD1):c.3229-1G>A
|
|
|
NM_138694.4(PKHD1):c.3229-20T>C
|
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3231G>A (p.Gly1077=)
|
|
|
NM_138694.4(PKHD1):c.3255G>A (p.Val1085=)
|
|
|
NM_138694.4(PKHD1):c.3258T>C (p.Thr1086=)
|
rs1330369427
|
|
NM_138694.4(PKHD1):c.3269_3280del (p.Gly1090_Ser1093del)
|
rs1554202991
|
|
NM_138694.4(PKHD1):c.3270G>C (p.Gly1090=)
|
rs1225705824
|
|
NM_138694.4(PKHD1):c.3271dup (p.Asp1091fs)
|
rs1803325484
|
|
NM_138694.4(PKHD1):c.3282A>C (p.Ala1094=)
|
rs2128163509
|
|
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro)
|
rs1803322601
|
|
NM_138694.4(PKHD1):c.3289C>T (p.Pro1097Ser)
|
|
|
NM_138694.4(PKHD1):c.3297A>G (p.Ala1099=)
|
|
|
NM_138694.4(PKHD1):c.3300del (p.Phe1100fs)
|
|
|
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs)
|
rs774250209
|
|
NM_138694.4(PKHD1):c.3303A>T (p.Thr1101=)
|
|
|
NM_138694.4(PKHD1):c.3309C>G (p.Val1103=)
|
rs2128163422
|
|
NM_138694.4(PKHD1):c.330C>G (p.Tyr110Ter)
|
|
|
NM_138694.4(PKHD1):c.330C>T (p.Tyr110=)
|
rs2128240446
|
|
NM_138694.4(PKHD1):c.3311C>T (p.Ser1104Phe)
|
rs769085607
|
|
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs)
|
rs1057516922
|
|
NM_138694.4(PKHD1):c.3315C>T (p.Ser1105=)
|
|
|
NM_138694.4(PKHD1):c.3339G>A (p.Leu1113=)
|
rs1803312068
|
|
NM_138694.4(PKHD1):c.3342C>T (p.Ser1114=)
|
rs2128163307
|
|
NM_138694.4(PKHD1):c.3350_3351del (p.Ile1117fs)
|
|
|
NM_138694.4(PKHD1):c.3357T>C (p.Asn1119=)
|
rs2128163246
|
|
NM_138694.4(PKHD1):c.3364+19C>T
|
|
|
NM_138694.4(PKHD1):c.3364G>A (p.Gly1122Ser)
|
rs1803308145
|
|
NM_138694.4(PKHD1):c.3365-16A>T
|
|
|
NM_138694.4(PKHD1):c.3365-19T>C
|
|
|
NM_138694.4(PKHD1):c.3365-3C>T
|
rs2128153381
|
|
NM_138694.4(PKHD1):c.3365-5C>T
|
|
|
NM_138694.4(PKHD1):c.3372G>A (p.Glu1124=)
|
rs569065606
|
|
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala)
|
rs144365187
|
|
NM_138694.4(PKHD1):c.3375C>T (p.Thr1125=)
|
rs2128153291
|
|
NM_138694.4(PKHD1):c.337G>T (p.Gly113Ter)
|
rs2128240429
|
|
NM_138694.4(PKHD1):c.3381C>T (p.Val1127=)
|
rs770039465
|
|
NM_138694.4(PKHD1):c.3384T>C (p.Ile1128=)
|
|
|
NM_138694.4(PKHD1):c.338del (p.Gly113fs)
|
|
|
NM_138694.4(PKHD1):c.3390G>A (p.Val1130=)
|
|
|
NM_138694.4(PKHD1):c.3396G>A (p.Arg1132=)
|
|
|
NM_138694.4(PKHD1):c.3397C>T (p.Leu1133=)
|
|
|
NM_138694.4(PKHD1):c.3405C>T (p.Asn1135=)
|
|
|
NM_138694.4(PKHD1):c.3406T>A (p.Tyr1136Asn)
|
|
|
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)
|
rs1554227215
|
|
NM_138694.4(PKHD1):c.3410C>T (p.Thr1137Met)
|
|
|
NM_138694.4(PKHD1):c.3412G>A (p.Asp1138Asn)
|
rs1192156901
|
|
NM_138694.4(PKHD1):c.3415T>C (p.Leu1139=)
|
|
|
NM_138694.4(PKHD1):c.3432C>T (p.His1144=)
|
rs376881116
|
|
NM_138694.4(PKHD1):c.3435C>T (p.Val1145=)
|
|
|
NM_138694.4(PKHD1):c.3438G>A (p.Gln1146=)
|
rs999791859
|
|
NM_138694.4(PKHD1):c.3459C>T (p.His1153=)
|
rs992727933
|
|
NM_138694.4(PKHD1):c.3462A>C (p.Thr1154=)
|
|
|
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs)
|
rs1554200778
|
|
NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter)
|
rs1802523270
|
|
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter)
|
rs886061619
|
|
NM_138694.4(PKHD1):c.3477C>A (p.Gly1159=)
|
rs1581827926
|
|
NM_138694.4(PKHD1):c.3477C>T (p.Gly1159=)
|
rs1581827926
|
|
NM_138694.4(PKHD1):c.3479dup (p.Glu1161fs)
|
|
|
NM_138694.4(PKHD1):c.3481G>C (p.Glu1161Gln)
|
rs878855202
|
|
NM_138694.4(PKHD1):c.3495C>T (p.Pro1165=)
|
|
|
NM_138694.4(PKHD1):c.3499C>T (p.Leu1167=)
|
rs2128152730
|
|
NM_138694.4(PKHD1):c.3501G>T (p.Leu1167=)
|
|
|
NM_138694.4(PKHD1):c.3504A>C (p.Pro1168=)
|
rs2128152692
|
|
NM_138694.4(PKHD1):c.3513C>T (p.Leu1171=)
|
rs2128152639
|
|
NM_138694.4(PKHD1):c.3522T>A (p.Ile1174=)
|
rs2128152605
|
|
NM_138694.4(PKHD1):c.3528C>T (p.Val1176=)
|
rs1562176342
|
|
NM_138694.4(PKHD1):c.3545G>C (p.Ser1182Thr)
|
|
|
NM_138694.4(PKHD1):c.3549del (p.His1184fs)
|
rs1802504786
|
|
NM_138694.4(PKHD1):c.3555A>C (p.Ser1185=)
|
|
|
NM_138694.4(PKHD1):c.3558A>G (p.Gln1186=)
|
|
|
NM_138694.4(PKHD1):c.3560+10C>A
|
|
|
NM_138694.4(PKHD1):c.3560+11C>A
|
|
|
NM_138694.4(PKHD1):c.3560+12A>G
|
|
|
NM_138694.4(PKHD1):c.3560+17C>G
|
|
|
NM_138694.4(PKHD1):c.3561-10T>C
|
rs770804376
|
|
NM_138694.4(PKHD1):c.3561-15G>A
|
|
|
NM_138694.4(PKHD1):c.3561-19A>C
|
|
|
NM_138694.4(PKHD1):c.3561-19A>G
|
|
|
NM_138694.4(PKHD1):c.3561-1G>A
|
rs1802457333
|
|
NM_138694.4(PKHD1):c.3561-2A>G
|
rs1057516982
|
|
NM_138694.4(PKHD1):c.3564T>C (p.Val1188=)
|
rs2128151686
|
|
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
|
|
|
NM_138694.4(PKHD1):c.3579G>A (p.Gln1193=)
|
rs2128151649
|
|
NM_138694.4(PKHD1):c.3588A>T (p.Thr1196=)
|
rs1244130284
|
|
NM_138694.4(PKHD1):c.3589dup (p.Glu1197fs)
|
rs2128151635
|
|
NM_138694.4(PKHD1):c.3591A>G (p.Glu1197=)
|
rs1217153511
|
|
NM_138694.4(PKHD1):c.3594T>C (p.Val1198=)
|
rs2128151618
|
|
NM_138694.4(PKHD1):c.3618G>T (p.Gly1206=)
|
rs948061604
|
|
NM_138694.4(PKHD1):c.3621C>G (p.Ser1207=)
|
rs1581824974
|
|
NM_138694.4(PKHD1):c.3621C>T (p.Ser1207=)
|
rs1581824974
|
|
NM_138694.4(PKHD1):c.3625C>T (p.Leu1209=)
|
|
|
NM_138694.4(PKHD1):c.3628+15T>C
|
|
|
NM_138694.4(PKHD1):c.3628+18G>T
|
|
|
NM_138694.4(PKHD1):c.3628+19A>G
|
|
|
NM_138694.4(PKHD1):c.3628+8G>A
|
rs2128151436
|
|
NM_138694.4(PKHD1):c.3628+8G>C
|
|
|
NM_138694.4(PKHD1):c.3628+9C>T
|
rs552339299
|
|
NM_138694.4(PKHD1):c.3628G>T (p.Gly1210Ter)
|
|
|
NM_138694.4(PKHD1):c.3629-4T>C
|
|
|
NM_138694.4(PKHD1):c.3629-4T>G
|
|
|
NM_138694.4(PKHD1):c.3629-6C>T
|
rs1581815331
|
|
NM_138694.4(PKHD1):c.3629-7A>G
|
|
|
NM_138694.4(PKHD1):c.3631G>A (p.Gly1211Arg)
|
|
|
NM_138694.4(PKHD1):c.3636C>T (p.Thr1212=)
|
rs2128147296
|
|
NM_138694.4(PKHD1):c.3637A>T (p.Ile1213Phe)
|
|
|
NM_138694.4(PKHD1):c.3639C>A (p.Ile1213=)
|
rs2128147277
|
|
NM_138694.4(PKHD1):c.3642C>T (p.Leu1214=)
|
|
|
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=)
|
rs1581815094
|
|
NM_138694.4(PKHD1):c.3651A>G (p.Ser1217=)
|
rs2128147214
|
|
NM_138694.4(PKHD1):c.3672C>T (p.Asp1224=)
|
|
|
NM_138694.4(PKHD1):c.3681G>A (p.Leu1227=)
|
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3695T>G (p.Val1232Gly)
|
|
|
NM_138694.4(PKHD1):c.3696G>A (p.Val1232=)
|
|
|
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser)
|
rs1802145665
|
|
NM_138694.4(PKHD1):c.3702T>C (p.Asn1234=)
|
|
|
NM_138694.4(PKHD1):c.370C>A (p.Arg124=)
|
rs727504096
|
|
NM_138694.4(PKHD1):c.3717T>C (p.Ile1239=)
|
|
|
NM_138694.4(PKHD1):c.3723C>T (p.Asn1241=)
|
|
|
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu)
|
rs140815495
|
|
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val)
|
rs140815495
|
|
NM_138694.4(PKHD1):c.3738C>T (p.Ser1246=)
|
|
|
NM_138694.4(PKHD1):c.3744G>A (p.Trp1248Ter)
|
|
|
NM_138694.4(PKHD1):c.3753C>G (p.Thr1251=)
|
|
|
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs)
|
rs2128146668
|
|
NM_138694.4(PKHD1):c.3756G>A (p.Leu1252=)
|
rs9689306
|
|
NM_138694.4(PKHD1):c.3756G>T (p.Leu1252=)
|
rs9689306
|
|
NM_138694.4(PKHD1):c.3759A>C (p.Pro1253=)
|
rs2128146627
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.3762C>A (p.Ala1254=)
|
rs758337939
|
|
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs)
|
rs1802132538
|
|
NM_138694.4(PKHD1):c.3765C>A (p.Pro1255=)
|
rs1581814029
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs)
|
|
|
NM_138694.4(PKHD1):c.3774C>G (p.Pro1258=)
|
|
|
NM_138694.4(PKHD1):c.3777T>C (p.Asp1259=)
|
rs2128146464
|
|
NM_138694.4(PKHD1):c.3783C>A (p.Gly1261=)
|
|
|
NM_138694.4(PKHD1):c.3786T>G (p.Ala1262=)
|
rs2128146375
|
|
NM_138694.4(PKHD1):c.378C>T (p.Ser126=)
|
rs2128240334
|
|
NM_138694.4(PKHD1):c.3791C>G (p.Thr1264Ser)
|
|
|
NM_138694.4(PKHD1):c.3798A>G (p.Pro1266=)
|
|
|
NM_138694.4(PKHD1):c.3804C>A (p.Ala1268=)
|
|
|
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs)
|
rs1554199349
|
|
NM_138694.4(PKHD1):c.3815G>A (p.Trp1272Ter)
|
|
|
NM_138694.4(PKHD1):c.3822C>A (p.Gly1274=)
|
rs758374049
|
|
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=)
|
rs1373102999
|
|
NM_138694.4(PKHD1):c.3831C>T (p.Phe1277=)
|
rs750542025
|
|
NM_138694.4(PKHD1):c.3837_3838del (p.Arg1280fs)
|
|
|
NM_138694.4(PKHD1):c.3840T>C (p.Arg1280=)
|
|
|
NM_138694.4(PKHD1):c.3848C>A (p.Ser1283Ter)
|
|
|
NM_138694.4(PKHD1):c.3849A>G (p.Ser1283=)
|
|
|
NM_138694.4(PKHD1):c.3858G>A (p.Leu1286=)
|
|
|
NM_138694.4(PKHD1):c.3861G>A (p.Val1287=)
|
|
|
NM_138694.4(PKHD1):c.3870C>T (p.Gly1290=)
|
|
|
NM_138694.4(PKHD1):c.3894A>G (p.Ala1298=)
|
|
|
NM_138694.4(PKHD1):c.390+16G>A
|
|
|
NM_138694.4(PKHD1):c.390+17G>A
|
|
|
NM_138694.4(PKHD1):c.390+1G>A
|
rs752327566
|
|
NM_138694.4(PKHD1):c.390+1del
|
rs1554227162
|
|
NM_138694.4(PKHD1):c.3907del (p.Val1303fs)
|
rs1581812192
|
|
NM_138694.4(PKHD1):c.3909C>T (p.Val1303=)
|
rs1385827930
|
|
NM_138694.4(PKHD1):c.391-10T>G
|
|
|
NM_138694.4(PKHD1):c.391-12T>C
|
|
|
NM_138694.4(PKHD1):c.391-13A>G
|
|
|
NM_138694.4(PKHD1):c.391-16A>G
|
|
|
NM_138694.4(PKHD1):c.391-18G>T
|
|
|
NM_138694.4(PKHD1):c.391-6A>G
|
rs2128236844
|
|
NM_138694.4(PKHD1):c.391-8C>G
|
|
|
NM_138694.4(PKHD1):c.3912T>G (p.Thr1304=)
|
|
|
NM_138694.4(PKHD1):c.3915C>T (p.Ala1305=)
|
rs1338082486
|
|
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
|
|
|
NM_138694.4(PKHD1):c.3921del (p.Gly1308fs)
|
|
|
NM_138694.4(PKHD1):c.3933A>G (p.Thr1311=)
|
rs2128145709
|
|
NM_138694.4(PKHD1):c.3936T>C (p.Asn1312=)
|
rs757243486
|
|
NM_138694.4(PKHD1):c.3939C>T (p.Ser1313=)
|
rs2128145683
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer)
|
rs1554199226
|
|
NM_138694.4(PKHD1):c.3948C>T (p.Ser1316=)
|
rs1802082808
|
|
NM_138694.4(PKHD1):c.3951G>A (p.Leu1317=)
|
rs2128145613
|
|
NM_138694.4(PKHD1):c.3957G>A (p.Val1319=)
|
|
|
NM_138694.4(PKHD1):c.3958G>T (p.Gly1320Ter)
|
|
|
NM_138694.4(PKHD1):c.3981A>C (p.Ser1327=)
|
|
|
NM_138694.4(PKHD1):c.3996G>A (p.Gly1332=)
|
|
|
NM_138694.4(PKHD1):c.4000C>T (p.Leu1334=)
|
|
|
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)
|
rs1802073525
|
|
NM_138694.4(PKHD1):c.4026del (p.Phe1343fs)
|
rs2128145291
|
|
NM_138694.4(PKHD1):c.402G>A (p.Ala134=)
|
rs200992930
|
|
NM_138694.4(PKHD1):c.402G>T (p.Ala134=)
|
rs200992930
|
|
NM_138694.4(PKHD1):c.4034del (p.Gly1345fs)
|
rs2128145261
|
|
NM_138694.4(PKHD1):c.4044C>T (p.Ser1348=)
|
|
|
NM_138694.4(PKHD1):c.4045C>T (p.Leu1349=)
|
rs781101623
|
|
NM_138694.4(PKHD1):c.4047G>A (p.Leu1349=)
|
rs754565280
|
|
NM_138694.4(PKHD1):c.4047G>T (p.Leu1349=)
|
rs754565280
|
|
NM_138694.4(PKHD1):c.4056C>T (p.Cys1352=)
|
|
|
NM_138694.4(PKHD1):c.4059C>T (p.Ser1353=)
|
|
|
NM_138694.4(PKHD1):c.405G>A (p.Gln135=)
|
|
|
NM_138694.4(PKHD1):c.4062C>T (p.Ile1354=)
|
|
|
NM_138694.4(PKHD1):c.4077G>A (p.Leu1359=)
|
|
|
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
|
|
|
NM_138694.4(PKHD1):c.40C>G (p.Leu14Val)
|
|
|
NM_138694.4(PKHD1):c.4104A>C (p.Val1368=)
|
|
|
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs)
|
rs1581810497
|
|
NM_138694.4(PKHD1):c.4113G>A (p.Lys1371=)
|
rs1029566251
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.411_414dup (p.Val139fs)
|
rs2128236822
|
|
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs)
|
rs1057516594
|
|
NM_138694.4(PKHD1):c.4133T>C (p.Met1378Thr)
|
rs1178166648
|
|
NM_138694.4(PKHD1):c.4141del (p.Val1381fs)
|
rs778537772
|
|
NM_138694.4(PKHD1):c.4142T>G (p.Val1381Gly)
|
|
|
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter)
|
rs1226122841
|
|
NM_138694.4(PKHD1):c.4158A>C (p.Ala1386=)
|
rs1581809900
|
|
NM_138694.4(PKHD1):c.415G>A (p.Val139Ile)
|
|
|
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=)
|
rs1802043497
|
|
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr)
|
rs2128144732
|
|
NM_138694.4(PKHD1):c.4167T>C (p.Pro1389=)
|
|
|
NM_138694.4(PKHD1):c.4168C>A (p.Arg1390=)
|
rs768458758
|
|
NM_138694.4(PKHD1):c.4168C>G (p.Arg1390Gly)
|
|
|
NM_138694.4(PKHD1):c.4179C>A (p.Ala1393=)
|
|
|
NM_138694.4(PKHD1):c.4183_4184dup (p.Pro1396fs)
|
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
NM_138694.4(PKHD1):c.4188A>T (p.Pro1396=)
|
|
|
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=)
|
rs756553815
|
|
NM_138694.4(PKHD1):c.4191G>T (p.Ser1397=)
|
rs756553815
|
|
NM_138694.4(PKHD1):c.4200G>T (p.Ser1400=)
|
rs767936065
|
|
NM_138694.4(PKHD1):c.4203A>G (p.Ala1401=)
|
rs2128144601
|
|
NM_138694.4(PKHD1):c.4203A>T (p.Ala1401=)
|
|
|
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del)
|
rs1802029655
|
|
NM_138694.4(PKHD1):c.4212G>C (p.Gly1404=)
|
rs751984319
|
|
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr)
|
rs1562166222
|
|
NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro)
|
|
|
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
|
rs1464962854
|
|
NM_138694.4(PKHD1):c.4221T>A (p.Leu1407=)
|
rs766639774
|
|
NM_138694.4(PKHD1):c.4224del (p.Thr1408_Val1409insTer)
|
rs2128144542
|
|
NM_138694.4(PKHD1):c.4230G>A (p.Arg1410=)
|
rs2128144521
|
|
NM_138694.4(PKHD1):c.4233G>A (p.Gly1411=)
|
|
|
NM_138694.4(PKHD1):c.4233G>T (p.Gly1411=)
|
|
|
NM_138694.4(PKHD1):c.4235del (p.Leu1412fs)
|
rs2128144488
|
|
NM_138694.4(PKHD1):c.4236G>A (p.Leu1412=)
|
rs2128144470
|
|
NM_138694.4(PKHD1):c.4244A>T (p.Asn1415Ile)
|
|
|
NM_138694.4(PKHD1):c.4248T>C (p.Ser1416=)
|
|
|
NM_138694.4(PKHD1):c.424del (p.Val142fs)
|
rs2128236801
|
|
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=)
|
rs577832997
|
|
NM_138694.4(PKHD1):c.4260A>G (p.Ser1420=)
|
rs1802024421
|
|
NM_138694.4(PKHD1):c.4260A>T (p.Ser1420=)
|
rs1802024421
|
|
NM_138694.4(PKHD1):c.4264C>A (p.Arg1422=)
|
rs776583949
|
|
NM_138694.4(PKHD1):c.4269T>G (p.Val1423=)
|
|
|
NM_138694.4(PKHD1):c.4272C>T (p.Asp1424=)
|
|
|
NM_138694.4(PKHD1):c.4277C>A (p.Ser1426Ter)
|
|
|
NM_138694.4(PKHD1):c.4278G>A (p.Ser1426=)
|
|
|
NM_138694.4(PKHD1):c.4278G>C (p.Ser1426=)
|
rs745566730
|
|
NM_138694.4(PKHD1):c.4284T>A (p.Pro1428=)
|
|
|
NM_138694.4(PKHD1):c.4284T>G (p.Pro1428=)
|
|
|
NM_138694.4(PKHD1):c.4290T>C (p.Thr1430=)
|
rs373579694
|
|
NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe)
|
rs753307105
|
|
NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp)
|
|
|
NM_138694.4(PKHD1):c.4295del (p.Val1432fs)
|
rs1246693314
|
|
NM_138694.4(PKHD1):c.42A>G (p.Leu14=)
|
rs764307504
|
|
NM_138694.4(PKHD1):c.4300T>C (p.Leu1434=)
|
|
|
NM_138694.4(PKHD1):c.4304G>A (p.Ser1435Asn)
|
rs138242579
|
|
NM_138694.4(PKHD1):c.4306T>C (p.Leu1436=)
|
rs2128144253
|
|
NM_138694.4(PKHD1):c.4314C>A (p.Asp1438Glu)
|
|
|
NM_138694.4(PKHD1):c.4317C>T (p.His1439=)
|
|
|
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs)
|
rs1802018167
|
|
NM_138694.4(PKHD1):c.4328del (p.Cys1443fs)
|
|
|
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)
|
rs1581808463
|
|
NM_138694.4(PKHD1):c.4341G>A (p.Leu1447=)
|
rs1562165566
|
|
NM_138694.4(PKHD1):c.4341G>C (p.Leu1447=)
|
rs1562165566
|
|
NM_138694.4(PKHD1):c.4341G>T (p.Leu1447=)
|
rs1562165566
|
|
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs)
|
rs1554198780
|
|
NM_138694.4(PKHD1):c.4353C>A (p.Pro1451=)
|
rs776581612
|
|
NM_138694.4(PKHD1):c.4362A>G (p.Gly1454=)
|
|
|
NM_138694.4(PKHD1):c.4363_4364delinsAA (p.Ala1455Asn)
|
rs2128144041
|
|
NM_138694.4(PKHD1):c.4368C>T (p.Ser1456=)
|
|
|
NM_138694.4(PKHD1):c.4374C>T (p.Ser1458=)
|
|
|
NM_138694.4(PKHD1):c.4375_4390del (p.Leu1459fs)
|
|
|
NM_138694.4(PKHD1):c.4401G>A (p.Gly1467=)
|
|
|
NM_138694.4(PKHD1):c.4401G>T (p.Gly1467=)
|
|
|
NM_138694.4(PKHD1):c.4410C>T (p.Ser1470=)
|
|
|
NM_138694.4(PKHD1):c.4413G>A (p.Glu1471=)
|
rs1802003938
|
|
NM_138694.4(PKHD1):c.4415G>A (p.Cys1472Tyr)
|
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)
|
rs1554198717
|
|
NM_138694.4(PKHD1):c.441T>A (p.Gly147=)
|
rs1240264139
|
|
NM_138694.4(PKHD1):c.4428C>T (p.Cys1476=)
|
rs1369026474
|
|
NM_138694.4(PKHD1):c.4436dup (p.Ile1480fs)
|
rs1801998818
|
|
NM_138694.4(PKHD1):c.4444_4450del (p.Glu1482fs)
|
|
|
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)
|
rs370608473
|
|
NM_138694.4(PKHD1):c.4459G>C (p.Val1487Leu)
|
|
|
NM_138694.4(PKHD1):c.4463T>C (p.Met1488Thr)
|
rs1801992008
|
|
NM_138694.4(PKHD1):c.4465G>C (p.Asp1489His)
|
|
|
NM_138694.4(PKHD1):c.4467T>C (p.Asp1489=)
|
|
|
NM_138694.4(PKHD1):c.4476C>T (p.Ser1492=)
|
rs767459915
|
|
NM_138694.4(PKHD1):c.4477A>C (p.Thr1493Pro)
|
rs745429712
|
|
NM_138694.4(PKHD1):c.4479A>C (p.Thr1493=)
|
|
|
NM_138694.4(PKHD1):c.448+15A>G
|
|
|
NM_138694.4(PKHD1):c.448+16T>C
|
|
|
NM_138694.4(PKHD1):c.448+2T>C
|
rs1057517270
|
|
NM_138694.4(PKHD1):c.448+7A>G
|
|
|
NM_138694.4(PKHD1):c.448+9T>A
|
|
|
NM_138694.4(PKHD1):c.448+9T>G
|
rs2128236756
|
|
NM_138694.4(PKHD1):c.4482C>T (p.Asn1494=)
|
rs1581807072
|
|
NM_138694.4(PKHD1):c.4485del (p.Ser1496fs)
|
rs1325403863
|
|
NM_138694.4(PKHD1):c.4488T>C (p.Ser1496=)
|
rs2128143658
|
|
NM_138694.4(PKHD1):c.4489G>A (p.Gly1497Arg)
|
|
|
NM_138694.4(PKHD1):c.448G>T (p.Gly150Ter)
|
|
|
NM_138694.4(PKHD1):c.449-12T>C
|
|
|
NM_138694.4(PKHD1):c.449-13C>A
|
|
|
NM_138694.4(PKHD1):c.449-14T>G
|
|
|
NM_138694.4(PKHD1):c.449-15T>C
|
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
NM_138694.4(PKHD1):c.449-1G>A
|
|
|
NM_138694.4(PKHD1):c.449-6A>C
|
rs200204976
|
|
NM_138694.4(PKHD1):c.449-6A>T
|
rs200204976
|
|
NM_138694.4(PKHD1):c.449-7C>T
|
|
|
NM_138694.4(PKHD1):c.4491G>A (p.Gly1497=)
|
|
|
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
|
rs1581806935
|
|
NM_138694.4(PKHD1):c.4494T>C (p.Ser1498=)
|
|
|
NM_138694.4(PKHD1):c.4496del (p.Leu1499fs)
|
|
|
NM_138694.4(PKHD1):c.4500C>A (p.Thr1500=)
|
rs2128143589
|
|
NM_138694.4(PKHD1):c.4503T>G (p.Thr1501=)
|
rs1554198630
|
|
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu)
|
rs1581806804
|
|
NM_138694.4(PKHD1):c.4506G>A (p.Val1502=)
|
rs2128143557
|
|
NM_138694.4(PKHD1):c.450A>G (p.Gly150=)
|
rs1362033015
|
|
NM_138694.4(PKHD1):c.4519C>T (p.Gln1507Ter)
|
|
|
NM_138694.4(PKHD1):c.4530C>T (p.Ala1510=)
|
rs1801976409
|
|
NM_138694.4(PKHD1):c.4533C>G (p.Thr1511=)
|
|
|
NM_138694.4(PKHD1):c.4539T>C (p.Ala1513=)
|
rs2128143441
|
|
NM_138694.4(PKHD1):c.453A>G (p.Lys151=)
|
|
|
NM_138694.4(PKHD1):c.4542T>C (p.Asp1514=)
|
|
|
NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter)
|
rs1433540169
|
|
NM_138694.4(PKHD1):c.4545G>A (p.Glu1515=)
|
rs2128143401
|
|
NM_138694.4(PKHD1):c.4548G>C (p.Pro1516=)
|
rs141745652
|
|
NM_138694.4(PKHD1):c.454C>G (p.Leu152Val)
|
rs2128234015
|
|
NM_138694.4(PKHD1):c.4554A>G (p.Val1518=)
|
rs1562163878
|
|
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs)
|
rs1057516382
|
|
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr)
|
rs1810936262
|
|
NM_138694.4(PKHD1):c.459A>T (p.Ile153=)
|
|
|
NM_138694.4(PKHD1):c.465A>G (p.Val155=)
|
|
|
NM_138694.4(PKHD1):c.468T>C (p.Tyr156=)
|
rs2128233946
|
|
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer)
|
rs1554224707
|
|
NM_138694.4(PKHD1):c.46T>C (p.Leu16=)
|
rs1219432577
|
|
NM_138694.4(PKHD1):c.47T>A (p.Leu16Ter)
|
|
|
NM_138694.4(PKHD1):c.483T>C (p.Thr161=)
|
|
|
NM_138694.4(PKHD1):c.484G>T (p.Gly162Ter)
|
rs1210505160
|
|
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs)
|
rs1057517220
|
|
NM_138694.4(PKHD1):c.501T>C (p.Phe167=)
|
rs2128233874
|
|
NM_138694.4(PKHD1):c.507del (p.Phe169fs)
|
rs2128233864
|
|
NM_138694.4(PKHD1):c.50C>T (p.Ala17Val)
|
|
|
NM_138694.4(PKHD1):c.510T>C (p.Asp170=)
|
rs1189377511
|
|
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
|
|
|
NM_138694.4(PKHD1):c.52+12G>A
|
|
|
NM_138694.4(PKHD1):c.52+13T>A
|
|
|
NM_138694.4(PKHD1):c.52+14G>A
|
|
|
NM_138694.4(PKHD1):c.52+19G>A
|
|
|
NM_138694.4(PKHD1):c.5237-11dup
|
|
|
NM_138694.4(PKHD1):c.5237-15C>A
|
|
|
NM_138694.4(PKHD1):c.5237-16A>G
|
|
|
NM_138694.4(PKHD1):c.5237-2A>C
|
rs1554197152
|
|
NM_138694.4(PKHD1):c.5242C>T (p.Leu1748=)
|
rs1451424644
|
|
NM_138694.4(PKHD1):c.5253G>A (p.Arg1751=)
|
rs1192788023
|
|
NM_138694.4(PKHD1):c.5259G>A (p.Val1753=)
|
rs200864129
|
|
NM_138694.4(PKHD1):c.5259G>C (p.Val1753=)
|
rs200864129
|
|
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=)
|
rs200864129
|
|
NM_138694.4(PKHD1):c.525T>C (p.Asp175=)
|
rs146322698
|
|
NM_138694.4(PKHD1):c.525del (p.Asp175fs)
|
rs1810924520
|
|
NM_138694.4(PKHD1):c.5261_5262del (p.His1754fs)
|
|
|
NM_138694.4(PKHD1):c.5263G>A (p.Val1755Met)
|
rs1201402132
|
|
NM_138694.4(PKHD1):c.5265G>A (p.Val1755=)
|
|
|
NM_138694.4(PKHD1):c.5268T>C (p.Phe1756=)
|
|
|
NM_138694.4(PKHD1):c.527+11G>A
|
|
|
NM_138694.4(PKHD1):c.527+12T>C
|
|
|
NM_138694.4(PKHD1):c.527+15G>T
|
|
|
NM_138694.4(PKHD1):c.527+1del
|
rs1057516697
|
|
NM_138694.4(PKHD1):c.527+20T>G
|
|
|
NM_138694.4(PKHD1):c.527+7G>A
|
|
|
NM_138694.4(PKHD1):c.527+8T>C
|
rs2128233790
|
|
NM_138694.4(PKHD1):c.5273C>T (p.Ala1758Val)
|
|
|
NM_138694.4(PKHD1):c.5274G>C (p.Ala1758=)
|
|
|
NM_138694.4(PKHD1):c.528-16T>C
|
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
NM_138694.4(PKHD1):c.528-19C>T
|
|
|
NM_138694.4(PKHD1):c.528-19del
|
|
|
NM_138694.4(PKHD1):c.528-6A>C
|
|
|
NM_138694.4(PKHD1):c.528-8A>T
|
|
|
NM_138694.4(PKHD1):c.528-9del
|
rs753686281
|
|
NM_138694.4(PKHD1):c.53-12A>T
|
|
|
NM_138694.4(PKHD1):c.53-14dup
|
|
|
NM_138694.4(PKHD1):c.53-18T>A
|
|
|
NM_138694.4(PKHD1):c.53-2A>G
|
rs1554228601
|
|
NM_138694.4(PKHD1):c.53-3C>A
|
|
|
NM_138694.4(PKHD1):c.53-4A>G
|
|
|
NM_138694.4(PKHD1):c.53-4dup
|
|
|
NM_138694.4(PKHD1):c.53-5T>C
|
|
|
NM_138694.4(PKHD1):c.53-6_53-3del
|
|
|
NM_138694.4(PKHD1):c.53-7C>T
|
rs2128244779
|
|
NM_138694.4(PKHD1):c.5310_5311del (p.Cys1770fs)
|
|
|
NM_138694.4(PKHD1):c.531A>G (p.Pro177=)
|
rs1582101669
|
|
NM_138694.4(PKHD1):c.5322C>A (p.Cys1774Ter)
|
rs2128138552
|
|
NM_138694.4(PKHD1):c.5323C>A (p.Arg1775=)
|
|
|
NM_138694.4(PKHD1):c.5325A>G (p.Arg1775=)
|
|
|
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs)
|
rs794727572
|
|
NM_138694.4(PKHD1):c.5328C>A (p.Val1776=)
|
rs1474433863
|
|
NM_138694.4(PKHD1):c.5329C>T (p.Leu1777=)
|
|
|
NM_138694.4(PKHD1):c.5334dup (p.Asn1779Ter)
|
rs1801600694
|
|
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser)
|
|
|
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile)
|
rs1554197025
|
|
NM_138694.4(PKHD1):c.5349T>G (p.Ser1783=)
|
rs1801599175
|
|
NM_138694.4(PKHD1):c.534G>A (p.Val178=)
|
rs1226545035
|
|
NM_138694.4(PKHD1):c.534G>T (p.Val178=)
|
|
|
NM_138694.4(PKHD1):c.5356A>G (p.Ser1786Gly)
|
|
|
NM_138694.4(PKHD1):c.5361C>T (p.Cys1787=)
|
rs1801596341
|
|
NM_138694.4(PKHD1):c.5364G>A (p.Leu1788=)
|
|
|
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu)
|
rs1288521396
|
|
NM_138694.4(PKHD1):c.5367T>C (p.Val1789=)
|
|
|
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=)
|
rs758616921
|
|
NM_138694.4(PKHD1):c.5372C>A (p.Pro1791His)
|
rs886042677
|
|
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu)
|
rs886042677
|
|
NM_138694.4(PKHD1):c.5374C>T (p.Leu1792=)
|
|
|
NM_138694.4(PKHD1):c.5374del (p.Leu1792fs)
|
rs2128138378
|
|
NM_138694.4(PKHD1):c.537C>A (p.Ile179=)
|
rs760480311
|
|
NM_138694.4(PKHD1):c.5380+10G>C
|
rs988478398
|
|
NM_138694.4(PKHD1):c.5380+10G>T
|
rs988478398
|
|
NM_138694.4(PKHD1):c.5380+12T>C
|
|
|
NM_138694.4(PKHD1):c.5380+15C>T
|
|
|
NM_138694.4(PKHD1):c.5380+16A>G
|
|
|
NM_138694.4(PKHD1):c.5380+2T>G
|
rs1801591463
|
|
NM_138694.4(PKHD1):c.5380+9A>G
|
|
|
NM_138694.4(PKHD1):c.5381-11G>A
|
|
|
NM_138694.4(PKHD1):c.5381-17G>A
|
|
|
NM_138694.4(PKHD1):c.5381-5T>C
|
rs878878746
|
|
NM_138694.4(PKHD1):c.5381-7_5385del
|
rs2128130561
|
|
NM_138694.4(PKHD1):c.5381-9T>G
|
rs1332944383
|
|
NM_138694.4(PKHD1):c.5381T>C (p.Val1794Ala)
|
rs780643984
|
|
NM_138694.4(PKHD1):c.5386T>C (p.Leu1796=)
|
|
|
NM_138694.4(PKHD1):c.538T>C (p.Leu180=)
|
|
|
NM_138694.4(PKHD1):c.5391C>T (p.Ala1797=)
|
|
|
NM_138694.4(PKHD1):c.5394C>T (p.Phe1798=)
|
|
|
NM_138694.4(PKHD1):c.5395C>T (p.Leu1799=)
|
|
|
NM_138694.4(PKHD1):c.5397G>T (p.Leu1799=)
|
|
|
NM_138694.4(PKHD1):c.5404C>T (p.Leu1802=)
|
rs1800750150
|
|
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys)
|
rs201906247
|
|
NM_138694.4(PKHD1):c.5411G>T (p.Arg1804Leu)
|
|
|
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)
|
rs1554194574
|
|
NM_138694.4(PKHD1):c.5415G>A (p.Glu1805=)
|
rs2128130480
|
|
NM_138694.4(PKHD1):c.5415GGA[1] (p.Glu1806del)
|
rs1554194551
|
|
NM_138694.4(PKHD1):c.5418G>A (p.Glu1806=)
|
rs1210193863
|
|
NM_138694.4(PKHD1):c.5420del (p.Asp1807fs)
|
|
|
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr)
|
rs1800745257
|
|
NM_138694.4(PKHD1):c.5440C>T (p.His1814Tyr)
|
rs1800742665
|
|
NM_138694.4(PKHD1):c.5441dup (p.His1814fs)
|
rs908880474
|
|
NM_138694.4(PKHD1):c.5442C>T (p.His1814=)
|
rs1464152176
|
|
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)
|
rs1554194511
|
|
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter)
|
rs1057516692
|
|
NM_138694.4(PKHD1):c.5454G>A (p.Gln1818=)
|
rs1800738202
|
|
NM_138694.4(PKHD1):c.5457_5458del (p.Cys1819_Asp1820delinsTer)
|
rs1554194504
|
|
NM_138694.4(PKHD1):c.5460T>C (p.Asp1820=)
|
|
|
NM_138694.4(PKHD1):c.5462del (p.Asp1820_Leu1821insTer)
|
rs2128130342
|
|
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs)
|
rs1562140771
|
|
NM_138694.4(PKHD1):c.5469T>C (p.Val1823=)
|
rs2128130314
|
|
NM_138694.4(PKHD1):c.546T>C (p.Ala182=)
|
|
|
NM_138694.4(PKHD1):c.5473A>G (p.Met1825Val)
|
|
|
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=)
|
rs137925439
|
|
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter)
|
rs2128231908
|
|
NM_138694.4(PKHD1):c.5481A>G (p.Thr1827=)
|
|
|
NM_138694.4(PKHD1):c.5484G>A (p.Glu1828=)
|
rs2128130263
|
|
NM_138694.4(PKHD1):c.5490G>C (p.Leu1830=)
|
|
|
NM_138694.4(PKHD1):c.5502G>A (p.Trp1834Ter)
|
rs1800728912
|
|
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser)
|
rs1562140504
|
|
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
|
rs913487671
|
|
NM_138694.4(PKHD1):c.5521G>T (p.Glu1841Ter)
|
|
|
NM_138694.4(PKHD1):c.5526A>G (p.Glu1842=)
|
rs989019602
|
|
NM_138694.4(PKHD1):c.5538C>A (p.Cys1846Ter)
|
|
|
NM_138694.4(PKHD1):c.5544T>C (p.Phe1848=)
|
|
|
NM_138694.4(PKHD1):c.5550A>C (p.Pro1850=)
|
|
|
NM_138694.4(PKHD1):c.555C>T (p.Asp185=)
|
rs2128231895
|
|
NM_138694.4(PKHD1):c.5565G>A (p.Glu1855=)
|
rs1800718076
|
|
NM_138694.4(PKHD1):c.5574T>G (p.Phe1858Leu)
|
rs1562140096
|
|
NM_138694.4(PKHD1):c.5577A>T (p.Pro1859=)
|
rs1024780605
|
|
NM_138694.4(PKHD1):c.5583C>T (p.Phe1861=)
|
|
|
NM_138694.4(PKHD1):c.5585C>A (p.Ser1862Ter)
|
|
|
NM_138694.4(PKHD1):c.5586G>T (p.Ser1862=)
|
|
|
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys)
|
rs776275341
|
|
NM_138694.4(PKHD1):c.5589C>T (p.Gly1863=)
|
|
|
NM_138694.4(PKHD1):c.5592C>G (p.Leu1864=)
|
rs2128130007
|
|
NM_138694.4(PKHD1):c.5598C>T (p.Ile1866=)
|
|
|
NM_138694.4(PKHD1):c.5599A>G (p.Ser1867Gly)
|
|
|
NM_138694.4(PKHD1):c.5600+10C>A
|
|
|
NM_138694.4(PKHD1):c.5600+10C>T
|
|
|
NM_138694.4(PKHD1):c.5600+11C>T
|
|
|
NM_138694.4(PKHD1):c.5600+15T>A
|
|
|
NM_138694.4(PKHD1):c.5600+16C>G
|
|
|
NM_138694.4(PKHD1):c.5600+17C>G
|
|
|
NM_138694.4(PKHD1):c.5600+18C>T
|
|
|
NM_138694.4(PKHD1):c.5600+6T>C
|
rs1800710573
|
|
NM_138694.4(PKHD1):c.5600+7T>G
|
|
|
NM_138694.4(PKHD1):c.5600+9A>G
|
|
|
NM_138694.4(PKHD1):c.5601-11del
|
|
|
NM_138694.4(PKHD1):c.5601-12C>T
|
|
|
NM_138694.4(PKHD1):c.5601-15C>T
|
|
|
NM_138694.4(PKHD1):c.5601-19A>T
|
|
|
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter)
|
rs1810710453
|
|
NM_138694.4(PKHD1):c.5613A>G (p.Glu1871=)
|
|
|
NM_138694.4(PKHD1):c.5616A>G (p.Arg1872=)
|
|
|
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
|
|
|
NM_138694.4(PKHD1):c.5622A>G (p.Glu1874=)
|
|
|
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
|
|
|
NM_138694.4(PKHD1):c.5631C>T (p.Ile1877=)
|
rs2128117364
|
|
NM_138694.4(PKHD1):c.5634T>C (p.Tyr1878=)
|
rs2128117356
|
|
NM_138694.4(PKHD1):c.5641_5649del (p.Ser1881_Asn1883del)
|
rs1554191359
|
|
NM_138694.4(PKHD1):c.5642C>A (p.Ser1881Tyr)
|
rs864622533
|
|
NM_138694.4(PKHD1):c.5649C>T (p.Asn1883=)
|
|
|
NM_138694.4(PKHD1):c.5655C>T (p.Thr1885=)
|
|
|
NM_138694.4(PKHD1):c.5656del (p.Met1886fs)
|
|
|
NM_138694.4(PKHD1):c.5660A>C (p.Glu1887Ala)
|
|
|
NM_138694.4(PKHD1):c.5665del (p.Glu1889fs)
|
rs1581727260
|
|
NM_138694.4(PKHD1):c.5667G>A (p.Glu1889=)
|
|
|
NM_138694.4(PKHD1):c.5670A>C (p.Ala1890=)
|
rs1394770264
|
|
NM_138694.4(PKHD1):c.5679G>A (p.Glu1893=)
|
|
|
NM_138694.4(PKHD1):c.567T>C (p.Thr189=)
|
rs2128231870
|
|
NM_138694.4(PKHD1):c.5680T>A (p.Cys1894Ser)
|
rs2128117206
|
|
NM_138694.4(PKHD1):c.5687C>G (p.Thr1896Arg)
|
|
|
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs)
|
rs1554191298
|
|
NM_138694.4(PKHD1):c.5693A>G (p.Asn1898Ser)
|
|
|
NM_138694.4(PKHD1):c.5695C>T (p.Gln1899Ter)
|
rs2128117147
|
|
NM_138694.4(PKHD1):c.5700A>T (p.Pro1900=)
|
rs1405636454
|
|
NM_138694.4(PKHD1):c.5703T>A (p.Ile1901=)
|
rs2128117109
|
|
NM_138694.4(PKHD1):c.5708T>C (p.Val1903Ala)
|
|
|
NM_138694.4(PKHD1):c.5733C>T (p.Arg1911=)
|
|
|
NM_138694.4(PKHD1):c.5739C>T (p.Gly1913=)
|
|
|
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter)
|
|
|
NM_138694.4(PKHD1):c.5742del (p.Asn1915fs)
|
|
|
NM_138694.4(PKHD1):c.5744A>G (p.Asn1915Ser)
|
|
|
NM_138694.4(PKHD1):c.5748T>C (p.Thr1916=)
|
|
|
NM_138694.4(PKHD1):c.5751+10A>G
|
rs1799638344
|
|
NM_138694.4(PKHD1):c.5751+13C>A
|
|
|
NM_138694.4(PKHD1):c.5751+16T>G
|
|
|
NM_138694.4(PKHD1):c.5751+19T>C
|
|
|
NM_138694.4(PKHD1):c.5751+1G>A
|
rs775638588
|
|
NM_138694.4(PKHD1):c.5751+3A>G
|
rs1581726525
|
|
NM_138694.4(PKHD1):c.5751+8C>A
|
|
|
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=)
|
rs398124489
|
|
NM_138694.4(PKHD1):c.5752-11C>T
|
|
|
NM_138694.4(PKHD1):c.5752-13C>G
|
|
|
NM_138694.4(PKHD1):c.5752-1G>C
|
|
|
NM_138694.4(PKHD1):c.5752-20C>A
|
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
NM_138694.4(PKHD1):c.5752-32CCAACCCA[3]
|
|
|
NM_138694.4(PKHD1):c.5752-4C>T
|
rs2127947734
|
|
NM_138694.4(PKHD1):c.5757C>T (p.Asn1919=)
|
|
|
NM_138694.4(PKHD1):c.575_578del (p.Ser192fs)
|
|
|
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs)
|
rs1791765505
|
|
NM_138694.4(PKHD1):c.5767_5768del (p.Gln1923fs)
|
rs2127947553
|
|
NM_138694.4(PKHD1):c.5769G>A (p.Gln1923=)
|
rs2127947517
|
|
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp)
|
rs543037335
|
|
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs)
|
rs1791763088
|
|
NM_138694.4(PKHD1):c.5781A>G (p.Arg1927=)
|
|
|
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
|
|
|
NM_138694.4(PKHD1):c.5784G>A (p.Trp1928Ter)
|
rs1791760028
|
|
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe)
|
rs1791759592
|
|
NM_138694.4(PKHD1):c.5787C>T (p.Ser1929=)
|
rs1561990875
|
|
NM_138694.4(PKHD1):c.5793T>A (p.Thr1931=)
|
rs2127947286
|
|
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
|
|
|
NM_138694.4(PKHD1):c.579T>A (p.Leu193=)
|
rs770367964
|
|
NM_138694.4(PKHD1):c.57T>A (p.Arg19=)
|
|
|
NM_138694.4(PKHD1):c.5808T>G (p.Pro1936=)
|
|
|
NM_138694.4(PKHD1):c.5812A>C (p.Arg1938=)
|
rs2127947177
|
|
NM_138694.4(PKHD1):c.5815C>T (p.Leu1939=)
|
rs1791754720
|
|
NM_138694.4(PKHD1):c.5817G>A (p.Leu1939=)
|
rs1791754319
|
|
NM_138694.4(PKHD1):c.5817G>C (p.Leu1939=)
|
rs1791754319
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5838C>T (p.Val1946=)
|
rs769415024
|
|
NM_138694.4(PKHD1):c.5841A>C (p.Thr1947=)
|
rs780854942
|
|
NM_138694.4(PKHD1):c.5850T>C (p.Asn1950=)
|
rs746505173
|
|
NM_138694.4(PKHD1):c.5856A>G (p.Gln1952=)
|
rs985097693
|
|
NM_138694.4(PKHD1):c.5858del (p.Leu1953fs)
|
rs2127946739
|
|
NM_138694.4(PKHD1):c.5862_5864del (p.Leu1956del)
|
rs1554162788
|
|
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)
|
|
|
NM_138694.4(PKHD1):c.5877C>T (p.Asn1959=)
|
rs955588679
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.5885T>G (p.Ile1962Ser)
|
rs756573585
|
|
NM_138694.4(PKHD1):c.5886C>T (p.Ile1962=)
|
|
|
NM_138694.4(PKHD1):c.5889C>T (p.Leu1963=)
|
rs2127946558
|
|
NM_138694.4(PKHD1):c.5893T>C (p.Leu1965=)
|
|
|
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs)
|
rs1554162725
|
|
NM_138694.4(PKHD1):c.5898G>A (p.Leu1966=)
|
rs2127946451
|
|
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)
|
rs1791737049
|
|
NM_138694.4(PKHD1):c.5908+13T>C
|
|
|
NM_138694.4(PKHD1):c.5908+19T>G
|
rs762848183
|
|
NM_138694.4(PKHD1):c.5908+9A>C
|
|
|
NM_138694.4(PKHD1):c.5909-11T>C
|
|
|
NM_138694.4(PKHD1):c.5909-12T>A
|
|
|
NM_138694.4(PKHD1):c.5909-15C>T
|
|
|
NM_138694.4(PKHD1):c.5909-19T>C
|
|
|
NM_138694.4(PKHD1):c.5909-2del
|
rs1334913120
|
|
NM_138694.4(PKHD1):c.5909-46_5943del
|
rs2127769312
|
|
NM_138694.4(PKHD1):c.5909-5A>G
|
rs1787132430
|
|
NM_138694.4(PKHD1):c.5909-7C>T
|
rs2127769611
|
|
NM_138694.4(PKHD1):c.5909-9G>C
|
rs1244562445
|
|
NM_138694.4(PKHD1):c.5913C>A (p.Gly1971=)
|
|
|
NM_138694.4(PKHD1):c.5916G>A (p.Lys1972=)
|
rs2127769498
|
|
NM_138694.4(PKHD1):c.5917C>T (p.Leu1973=)
|
|
|
NM_138694.4(PKHD1):c.5925C>T (p.Phe1975=)
|
|
|
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.5940C>T (p.Pro1980=)
|
rs1787124894
|
|
NM_138694.4(PKHD1):c.5953del (p.Ala1985fs)
|
rs1561921358
|
|
NM_138694.4(PKHD1):c.5959G>T (p.Ala1987Ser)
|
rs375949362
|
|
NM_138694.4(PKHD1):c.5961C>T (p.Ala1987=)
|
|
|
NM_138694.4(PKHD1):c.5967T>C (p.Leu1989=)
|
rs2127769064
|
|
NM_138694.4(PKHD1):c.5970T>C (p.Val1990=)
|
|
|
NM_138694.4(PKHD1):c.5979T>A (p.Gly1993=)
|
rs1561921169
|
|
NM_138694.4(PKHD1):c.5979T>C (p.Gly1993=)
|
|
|
NM_138694.4(PKHD1):c.5982A>G (p.Gly1994=)
|
rs2127768983
|
|
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly)
|
rs1554144359
|
|
NM_138694.4(PKHD1):c.5985G>A (p.Glu1995=)
|
|
|
NM_138694.4(PKHD1):c.5989C>T (p.Arg1997Trp)
|
|
|
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr)
|
rs1210348558
|
|
NM_138694.4(PKHD1):c.5994_5998del (p.Gly1999fs)
|
|
|
NM_138694.4(PKHD1):c.5995G>T (p.Gly1999Ter)
|
rs2127768828
|
|
NM_138694.4(PKHD1):c.5996G>C (p.Gly1999Ala)
|
rs2127768810
|
|
NM_138694.4(PKHD1):c.6000C>G (p.Ser2000=)
|
|
|
NM_138694.4(PKHD1):c.6000C>T (p.Ser2000=)
|
rs780347387
|
|
NM_138694.4(PKHD1):c.6001G>T (p.Glu2001Ter)
|
|
|
NM_138694.4(PKHD1):c.6008del (p.Lys2003fs)
|
rs2127768716
|
|
NM_138694.4(PKHD1):c.6009G>A (p.Lys2003=)
|
|
|
NM_138694.4(PKHD1):c.601T>G (p.Cys201Gly)
|
rs1810703881
|
|
NM_138694.4(PKHD1):c.602+19T>C
|
|
|
NM_138694.4(PKHD1):c.602+1G>A
|
rs1554223950
|
|
NM_138694.4(PKHD1):c.602+2T>A
|
rs2128231798
|
|
NM_138694.4(PKHD1):c.602+7G>A
|
rs1810701904
|
|
NM_138694.4(PKHD1):c.602+8T>C
|
rs2128231779
|
|
NM_138694.4(PKHD1):c.6029del (p.Gln2010fs)
|
rs1561920869
|
|
NM_138694.4(PKHD1):c.603-16T>A
|
|
|
NM_138694.4(PKHD1):c.603-19C>G
|
|
|
NM_138694.4(PKHD1):c.603-1G>A
|
rs1554223403
|
|
NM_138694.4(PKHD1):c.603-6C>T
|
|
|
NM_138694.4(PKHD1):c.603-8T>C
|
rs2128230211
|
|
NM_138694.4(PKHD1):c.6033C>A (p.Ile2011=)
|
|
|
NM_138694.4(PKHD1):c.6033C>T (p.Ile2011=)
|
|
|
NM_138694.4(PKHD1):c.6038T>C (p.Leu2013Pro)
|
rs1554144276
|
|
NM_138694.4(PKHD1):c.6039C>T (p.Leu2013=)
|
rs2127768520
|
|
NM_138694.4(PKHD1):c.6050C>G (p.Ser2017Cys)
|
rs1787094080
|
|
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
|
NM_138694.4(PKHD1):c.6077del (p.Gly2026fs)
|
|
|
NM_138694.4(PKHD1):c.6090G>C (p.Leu2030=)
|
rs1787086867
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
NM_138694.4(PKHD1):c.60C>T (p.His20=)
|
rs759338217
|
|
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs)
|
rs2127768101
|
|
NM_138694.4(PKHD1):c.6111T>C (p.Leu2037=)
|
rs2127768077
|
|
NM_138694.4(PKHD1):c.6111_6112insG (p.Ser2038fs)
|
|
|
NM_138694.4(PKHD1):c.6114T>A (p.Ser2038=)
|
rs527565899
|
|
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
|
|
|
NM_138694.4(PKHD1):c.6121+10G>A
|
rs745924449
|
|
NM_138694.4(PKHD1):c.6121+13A>G
|
|
|
NM_138694.4(PKHD1):c.6121+16G>C
|
|
|
NM_138694.4(PKHD1):c.6121+1G>T
|
rs2127767937
|
|
NM_138694.4(PKHD1):c.6122-10G>A
|
rs2127668280
|
|
NM_138694.4(PKHD1):c.6122-13C>G
|
|
|
NM_138694.4(PKHD1):c.6122-17T>C
|
|
|
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA
|
rs1057517378
|
|
NM_138694.4(PKHD1):c.6122-6C>G
|
rs1583333066
|
|
NM_138694.4(PKHD1):c.6122-9dup
|
|
|
NM_138694.4(PKHD1):c.6122G>T (p.Gly2041Val)
|
rs2127668227
|
|
NM_138694.4(PKHD1):c.6126A>G (p.Ser2042=)
|
|
|
NM_138694.4(PKHD1):c.6147C>T (p.Thr2049=)
|
rs2127668037
|
|
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)
|
rs551783157
|
|
NM_138694.4(PKHD1):c.6165C>T (p.Ala2055=)
|
|
|
NM_138694.4(PKHD1):c.6170C>A (p.Ala2057Asp)
|
|
|
NM_138694.4(PKHD1):c.6177C>T (p.Asp2059=)
|
rs1286584147
|
|
NM_138694.4(PKHD1):c.6183G>A (p.Val2061=)
|
|
|
NM_138694.4(PKHD1):c.6186G>T (p.Leu2062=)
|
|
|
NM_138694.4(PKHD1):c.618G>A (p.Glu206=)
|
|
|
NM_138694.4(PKHD1):c.61C>T (p.Leu21=)
|
rs2128244729
|
|
NM_138694.4(PKHD1):c.6201T>A (p.Ala2067=)
|
|
|
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)
|
|
|
NM_138694.4(PKHD1):c.621C>T (p.Asp207=)
|
|
|
NM_138694.4(PKHD1):c.6225A>G (p.Glu2075=)
|
|
|
NM_138694.4(PKHD1):c.6226G>A (p.Val2076Ile)
|
|
|
NM_138694.4(PKHD1):c.6234C>T (p.Ile2078=)
|
|
|
NM_138694.4(PKHD1):c.6240T>C (p.Ser2080=)
|
rs2127667413
|
|
NM_138694.4(PKHD1):c.6243A>T (p.Gly2081=)
|
|
|
NM_138694.4(PKHD1):c.6249T>G (p.Gly2083=)
|
|
|
NM_138694.4(PKHD1):c.6267G>A (p.Pro2089=)
|
rs1399100600
|
|
NM_138694.4(PKHD1):c.6273_6285delinsGA (p.Glu2092fs)
|
|
|
NM_138694.4(PKHD1):c.6282C>T (p.Val2094=)
|
rs919892457
|
|
NM_138694.4(PKHD1):c.6294T>A (p.Thr2098=)
|
|
|
NM_138694.4(PKHD1):c.6294T>G (p.Thr2098=)
|
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
NM_138694.4(PKHD1):c.6297G>A (p.Val2099=)
|
|
|
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs)
|
rs1554134080
|
|
NM_138694.4(PKHD1):c.6315T>C (p.Tyr2105=)
|
rs1485735734
|
|
NM_138694.4(PKHD1):c.6332+12C>T
|
rs1416468619
|
|
NM_138694.4(PKHD1):c.6332+18G>C
|
|
|
NM_138694.4(PKHD1):c.6332+1G>A
|
|
|
NM_138694.4(PKHD1):c.6332+2T>A
|
rs1783090781
|
|
NM_138694.4(PKHD1):c.6333-10T>A
|
rs2127664861
|
|
NM_138694.4(PKHD1):c.6333-13T>C
|
|
|
NM_138694.4(PKHD1):c.6333-13dup
|
rs138161138
|
|
NM_138694.4(PKHD1):c.6333-14C>G
|
|
|
NM_138694.4(PKHD1):c.6333-17C>T
|
|
|
NM_138694.4(PKHD1):c.6333-19A>G
|
|
|
NM_138694.4(PKHD1):c.6333-34_6333-20del
|
|
|
NM_138694.4(PKHD1):c.6333-4C>G
|
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
NM_138694.4(PKHD1):c.6336T>G (p.Tyr2112Ter)
|
rs2127664665
|
|
NM_138694.4(PKHD1):c.6357T>C (p.Asn2119=)
|
rs995717817
|
|
NM_138694.4(PKHD1):c.6360G>C (p.Trp2120Cys)
|
rs1440253606
|
|
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs)
|
|
|
NM_138694.4(PKHD1):c.6366T>G (p.Ala2122=)
|
rs2127664431
|
|
NM_138694.4(PKHD1):c.636T>A (p.Thr212=)
|
rs2128230164
|
|
NM_138694.4(PKHD1):c.636T>C (p.Thr212=)
|
|
|
NM_138694.4(PKHD1):c.6372G>A (p.Glu2124=)
|
rs1583328896
|
|
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter)
|
rs1783006864
|
|
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)
|
rs1405067373
|
|
NM_138694.4(PKHD1):c.6390C>T (p.Ala2130=)
|
|
|
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs)
|
rs1783005266
|
|
NM_138694.4(PKHD1):c.6392dup (p.Val2132fs)
|
rs2127664245
|
|
NM_138694.4(PKHD1):c.6393T>C (p.Thr2131=)
|
|
|
NM_138694.4(PKHD1):c.6405C>T (p.Leu2135=)
|
rs2127664115
|
|
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs)
|
|
|
NM_138694.4(PKHD1):c.6439_6441del (p.Asn2147del)
|
rs1554133798
|
|
NM_138694.4(PKHD1):c.6447G>A (p.Arg2149=)
|
|
|
NM_138694.4(PKHD1):c.6454C>T (p.Leu2152=)
|
|
|
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter)
|
rs557437764
|
|
NM_138694.4(PKHD1):c.6462T>G (p.Val2154=)
|
rs878852998
|
|
NM_138694.4(PKHD1):c.6468C>T (p.Cys2156=)
|
|
|
NM_138694.4(PKHD1):c.6472G>T (p.Glu2158Ter)
|
|
|
NM_138694.4(PKHD1):c.6477C>T (p.Ala2159=)
|
rs2127663480
|
|
NM_138694.4(PKHD1):c.6480T>C (p.Asn2160=)
|
|
|
NM_138694.4(PKHD1):c.648T>C (p.His216=)
|
|
|
NM_138694.4(PKHD1):c.6490+11G>C
|
|
|
NM_138694.4(PKHD1):c.6490+11_6490+12del
|
|
|
NM_138694.4(PKHD1):c.6490+14T>C
|
|
|
NM_138694.4(PKHD1):c.6490+14T>G
|
|
|
NM_138694.4(PKHD1):c.6490+1G>A
|
rs1554133736
|
|
NM_138694.4(PKHD1):c.6490G>A (p.Gly2164Ser)
|
rs147595459
|
|
NM_138694.4(PKHD1):c.6491-15dup
|
|
|
NM_138694.4(PKHD1):c.6491-1G>A
|
rs1554132790
|
|
NM_138694.4(PKHD1):c.6491-2A>G
|
rs2127653183
|
|
NM_138694.4(PKHD1):c.6491-7A>C
|
|
|
NM_138694.4(PKHD1):c.6495T>C (p.Asn2165=)
|
|
|
NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter)
|
rs368263958
|
|
NM_138694.4(PKHD1):c.6506G>A (p.Cys2169Tyr)
|
|
|
NM_138694.4(PKHD1):c.6506_6511delinsC (p.Cys2169fs)
|
|
|
NM_138694.4(PKHD1):c.6507T>C (p.Cys2169=)
|
rs2127652943
|
|
NM_138694.4(PKHD1):c.6508_6511del (p.Leu2170fs)
|
|
|
NM_138694.4(PKHD1):c.6516C>T (p.Ser2172=)
|
|
|
NM_138694.4(PKHD1):c.651G>C (p.Val217=)
|
rs2128230121
|
|
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter)
|
rs1057516706
|
|
NM_138694.4(PKHD1):c.6534A>G (p.Leu2178=)
|
|
|
NM_138694.4(PKHD1):c.6537A>G (p.Gly2179=)
|
rs764411713
|
|
NM_138694.4(PKHD1):c.6568C>T (p.Gln2190Ter)
|
rs1782629977
|
|
NM_138694.4(PKHD1):c.6573C>T (p.Ser2191=)
|
|
|
NM_138694.4(PKHD1):c.6579A>G (p.Pro2193=)
|
rs947354259
|
|
NM_138694.4(PKHD1):c.6580G>C (p.Glu2194Gln)
|
|
|
NM_138694.4(PKHD1):c.6592C>T (p.Gln2198Ter)
|
|
|
NM_138694.4(PKHD1):c.6601T>C (p.Leu2201=)
|
rs923403903
|
|
NM_138694.4(PKHD1):c.6609A>G (p.Gly2203=)
|
|
|
NM_138694.4(PKHD1):c.6623T>G (p.Val2208Gly)
|
|
|
NM_138694.4(PKHD1):c.6624C>G (p.Val2208=)
|
|
|
NM_138694.4(PKHD1):c.6625T>C (p.Leu2209=)
|
|
|
NM_138694.4(PKHD1):c.6627G>A (p.Leu2209=)
|
rs2127652048
|
|
NM_138694.4(PKHD1):c.6629G>A (p.Gly2210Glu)
|
|
|
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)
|
rs1554223332
|
|
NM_138694.4(PKHD1):c.6633A>G (p.Gln2211=)
|
rs2127652021
|
|
NM_138694.4(PKHD1):c.6635C>G (p.Ala2212Gly)
|
|
|
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg)
|
rs778124617
|
|
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu)
|
rs369925690
|
|
NM_138694.4(PKHD1):c.6652A>T (p.Ser2218Cys)
|
rs756450923
|
|
NM_138694.4(PKHD1):c.6658del (p.Leu2220fs)
|
rs2127651823
|
|
NM_138694.4(PKHD1):c.6660C>T (p.Leu2220=)
|
rs2127651770
|
|
NM_138694.4(PKHD1):c.6663T>G (p.Thr2221=)
|
|
|
NM_138694.4(PKHD1):c.667+10A>G
|
rs2128230077
|
|
NM_138694.4(PKHD1):c.667+11G>C
|
|
|
NM_138694.4(PKHD1):c.667+18C>T
|
|
|
NM_138694.4(PKHD1):c.6672A>T (p.Gly2224=)
|
rs2127651668
|
|
NM_138694.4(PKHD1):c.6675T>A (p.Ala2225=)
|
|
|
NM_138694.4(PKHD1):c.668-15T>C
|
|
|
NM_138694.4(PKHD1):c.668-17G>A
|
|
|
NM_138694.4(PKHD1):c.668-17del
|
rs761316404
|
|
NM_138694.4(PKHD1):c.668-5T>A
|
rs2128229251
|
|
NM_138694.4(PKHD1):c.6682+10T>A
|
|
|
NM_138694.4(PKHD1):c.6682+10del
|
rs2127651533
|
|
NM_138694.4(PKHD1):c.6682+12C>T
|
|
|
NM_138694.4(PKHD1):c.6682+13G>A
|
|
|
NM_138694.4(PKHD1):c.6682+17C>T
|
|
|
NM_138694.4(PKHD1):c.6682+7G>C
|
|
|
NM_138694.4(PKHD1):c.6682+9G>C
|
rs2127651544
|
|
NM_138694.4(PKHD1):c.6682+9G>T
|
rs2127651544
|
|
NM_138694.4(PKHD1):c.6683-11T>C
|
|
|
NM_138694.4(PKHD1):c.6683-14T>C
|
|
|
NM_138694.4(PKHD1):c.6683-15C>T
|
|
|
NM_138694.4(PKHD1):c.6683-16A>T
|
|
|
NM_138694.4(PKHD1):c.6683-17T>C
|
|
|
NM_138694.4(PKHD1):c.6683-20C>T
|
|
|
NM_138694.4(PKHD1):c.6683-2A>C
|
rs2127637373
|
|
NM_138694.4(PKHD1):c.6683-3C>T
|
rs1554300531
|
|
NM_138694.4(PKHD1):c.6683-4T>G
|
|
|
NM_138694.4(PKHD1):c.6683-6A>G
|
|
|
NM_138694.4(PKHD1):c.6683-8C>G
|
|
|
NM_138694.4(PKHD1):c.6691A>G (p.Ile2231Val)
|
rs2127637295
|
|
NM_138694.4(PKHD1):c.6708G>A (p.Val2236=)
|
rs781493877
|
|
NM_138694.4(PKHD1):c.6714C>T (p.Asn2238=)
|
|
|
NM_138694.4(PKHD1):c.6723T>C (p.Ser2241=)
|
rs2127636990
|
|
NM_138694.4(PKHD1):c.6729C>A (p.Gly2243=)
|
|
|
NM_138694.4(PKHD1):c.6730C>G (p.Leu2244Val)
|
|
|
NM_138694.4(PKHD1):c.6741C>T (p.Cys2247=)
|
rs750190287
|
|
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=)
|
rs900150542
|
|
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=)
|
rs368194577
|
|
NM_138694.4(PKHD1):c.6756G>T (p.Leu2252=)
|
rs368194577
|
|
NM_138694.4(PKHD1):c.6759G>A (p.Lys2253=)
|
rs2127636674
|
|
NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly)
|
|
|
NM_138694.4(PKHD1):c.6765del (p.Asp2255fs)
|
|
|
NM_138694.4(PKHD1):c.6768T>C (p.Ser2256=)
|
rs2127636604
|
|
NM_138694.4(PKHD1):c.6771T>G (p.Asn2257Lys)
|
rs1315333212
|
|
NM_138694.4(PKHD1):c.6777C>G (p.Phe2259Leu)
|
|
|
NM_138694.4(PKHD1):c.6778del (p.Tyr2260fs)
|
rs1782064827
|
|
NM_138694.4(PKHD1):c.6783T>C (p.Asn2261=)
|
|
|
NM_138694.4(PKHD1):c.6792T>G (p.Gly2264=)
|
|
|
NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr)
|
|
|
NM_138694.4(PKHD1):c.6794A>T (p.His2265Leu)
|
|
|
NM_138694.4(PKHD1):c.6798G>T (p.Ala2266=)
|
|
|
NM_138694.4(PKHD1):c.6799C>T (p.Leu2267=)
|
rs202099228
|
|
NM_138694.4(PKHD1):c.6801G>T (p.Leu2267=)
|
rs2127636193
|
|
NM_138694.4(PKHD1):c.6804A>T (p.Leu2268=)
|
|
|
NM_138694.4(PKHD1):c.6805_6806insCTAT (p.Val2269fs)
|
|
|
NM_138694.4(PKHD1):c.6808+12A>G
|
|
|
NM_138694.4(PKHD1):c.6808+14G>A
|
|
|
NM_138694.4(PKHD1):c.6808+17T>A
|
|
|
NM_138694.4(PKHD1):c.6808+19T>C
|
|
|
NM_138694.4(PKHD1):c.6808+20T>C
|
|
|
NM_138694.4(PKHD1):c.6808+8A>G
|
rs2127636084
|
|
NM_138694.4(PKHD1):c.6808+9A>T
|
|
|
NM_138694.4(PKHD1):c.6809-15G>A
|
|
|
NM_138694.4(PKHD1):c.6809-19T>C
|
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6809-2A>T
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6809-5C>T
|
|
|
NM_138694.4(PKHD1):c.6809-8G>T
|
|
|
NM_138694.4(PKHD1):c.6810G>A (p.Gly2270=)
|
rs1781701249
|
|
NM_138694.4(PKHD1):c.6813A>G (p.Thr2271=)
|
|
|
NM_138694.4(PKHD1):c.6816C>T (p.Cys2272=)
|
|
|
NM_138694.4(PKHD1):c.6822G>A (p.Glu2274=)
|
rs1583295906
|
|
NM_138694.4(PKHD1):c.6831T>C (p.Tyr2277=)
|
rs780266343
|
|
NM_138694.4(PKHD1):c.6834C>T (p.Ile2278=)
|
|
|
NM_138694.4(PKHD1):c.6835del (p.Ser2279fs)
|
|
|
NM_138694.4(PKHD1):c.6839G>A (p.Trp2280Ter)
|
rs758404336
|
|
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter)
|
rs1583295819
|
|
NM_138694.4(PKHD1):c.6852T>C (p.His2284=)
|
rs2127624985
|
|
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs)
|
rs760921148
|
|
NM_138694.4(PKHD1):c.6865+11A>G
|
|
|
NM_138694.4(PKHD1):c.6865+16G>T
|
|
|
NM_138694.4(PKHD1):c.6865+1G>A
|
|
|
NM_138694.4(PKHD1):c.6865+7A>G
|
rs2127624877
|
|
NM_138694.4(PKHD1):c.6866-14T>C
|
|
|
NM_138694.4(PKHD1):c.6866-16_6866del
|
rs1554299291
|
|
NM_138694.4(PKHD1):c.6866-1G>C
|
rs1781631365
|
|
NM_138694.4(PKHD1):c.6866-1G>T
|
|
|
NM_138694.4(PKHD1):c.6866-2A>T
|
|
|
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA
|
rs1562581286
|
|
NM_138694.4(PKHD1):c.6866-4_6866-2del
|
rs748114217
|
|
NM_138694.4(PKHD1):c.6866-5A>G
|
rs886061617
|
|
NM_138694.4(PKHD1):c.6869G>T (p.Trp2290Leu)
|
|
|
NM_138694.4(PKHD1):c.6887TAA[1] (p.Ile2297del)
|
rs1554299250
|
|
NM_138694.4(PKHD1):c.6888A>C (p.Ile2296=)
|
|
|
NM_138694.4(PKHD1):c.6893G>T (p.Arg2298Ile)
|
rs1781623229
|
|
NM_138694.4(PKHD1):c.6900C>G (p.Asn2300Lys)
|
rs776060304
|
|
NM_138694.4(PKHD1):c.690dup (p.Val231fs)
|
rs2128229183
|
|
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter)
|
rs1057516441
|
|
NM_138694.4(PKHD1):c.6912G>A (p.Gln2304=)
|
rs1781618829
|
|
NM_138694.4(PKHD1):c.6918T>C (p.Ser2306=)
|
rs1781618062
|
|
NM_138694.4(PKHD1):c.6919G>C (p.Gly2307Arg)
|
rs765874902
|
|
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)
|
rs373795139
|
|
NM_138694.4(PKHD1):c.6929del (p.Gly2310fs)
|
|
|
NM_138694.4(PKHD1):c.6933C>G (p.Leu2311=)
|
rs2127622347
|
|
NM_138694.4(PKHD1):c.6936C>G (p.Ser2312=)
|
|
|
NM_138694.4(PKHD1):c.6936C>T (p.Ser2312=)
|
|
|
NM_138694.4(PKHD1):c.6938A>G (p.Asn2313Ser)
|
rs1334374415
|
|
NM_138694.4(PKHD1):c.6942T>G (p.Pro2314=)
|
rs376472715
|
|
NM_138694.4(PKHD1):c.6951G>A (p.Leu2317=)
|
rs2127622175
|
|
NM_138694.4(PKHD1):c.6954A>G (p.Thr2318=)
|
rs2127622136
|
|
NM_138694.4(PKHD1):c.6957A>G (p.Pro2319=)
|
rs2127622037
|
|
NM_138694.4(PKHD1):c.6975C>T (p.Cys2325=)
|
rs2127621930
|
|
NM_138694.4(PKHD1):c.6987T>C (p.Asn2329=)
|
|
|
NM_138694.4(PKHD1):c.6996+10del
|
rs1781600286
|
|
NM_138694.4(PKHD1):c.6996+20C>A
|
|
|
NM_138694.4(PKHD1):c.6996+2del
|
rs2127621751
|
|
NM_138694.4(PKHD1):c.6996+4A>T
|
|
|
NM_138694.4(PKHD1):c.6996+7T>C
|
|
|
NM_138694.4(PKHD1):c.6996+8G>A
|
rs1212337597
|
|
NM_138694.4(PKHD1):c.6996G>A (p.Glu2332=)
|
rs775831255
|
|
NM_138694.4(PKHD1):c.6997-13T>C
|
|
|
NM_138694.4(PKHD1):c.6997-13T>G
|
|
|
NM_138694.4(PKHD1):c.6997-14_6997-12del
|
|
|
NM_138694.4(PKHD1):c.6997-17C>A
|
|
|
NM_138694.4(PKHD1):c.6997-17C>T
|
|
|
NM_138694.4(PKHD1):c.6997-4G>C
|
rs1382447658
|
|
NM_138694.4(PKHD1):c.6997-5T>C
|
rs1422813423
|
|
NM_138694.4(PKHD1):c.6999G>A (p.Gly2333=)
|
rs746844312
|
|
NM_138694.4(PKHD1):c.69A>G (p.Leu23=)
|
|
|
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
|
|
|
NM_138694.4(PKHD1):c.7008G>A (p.Val2336=)
|
|
|
NM_138694.4(PKHD1):c.7008G>C (p.Val2336=)
|
|
|
NM_138694.4(PKHD1):c.700A>G (p.Lys234Glu)
|
rs2128229167
|
|
NM_138694.4(PKHD1):c.7011_7012del (p.Cys2337fs)
|
|
|
NM_138694.4(PKHD1):c.7020C>A (p.Gly2340=)
|
|
|
NM_138694.4(PKHD1):c.7020C>T (p.Gly2340=)
|
|
|
NM_138694.4(PKHD1):c.7023T>A (p.Tyr2341Ter)
|
|
|
NM_138694.4(PKHD1):c.7029C>A (p.Tyr2343Ter)
|
rs202223718
|
|
NM_138694.4(PKHD1):c.7047C>T (p.Thr2349=)
|
rs2127556875
|
|
NM_138694.4(PKHD1):c.705A>G (p.Gly235=)
|
|
|
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs)
|
rs1583203255
|
|
NM_138694.4(PKHD1):c.7068G>C (p.Pro2356=)
|
rs200774031
|
|
NM_138694.4(PKHD1):c.7068G>T (p.Pro2356=)
|
rs200774031
|
|
NM_138694.4(PKHD1):c.707+12G>C
|
|
|
NM_138694.4(PKHD1):c.707+13G>C
|
|
|
NM_138694.4(PKHD1):c.707+19A>G
|
|
|
NM_138694.4(PKHD1):c.707+2T>C
|
rs1554222939
|
|
NM_138694.4(PKHD1):c.7071T>C (p.Leu2357=)
|
rs778548578
|
|
NM_138694.4(PKHD1):c.708-14del
|
|
|
NM_138694.4(PKHD1):c.708-17C>T
|
|
|
NM_138694.4(PKHD1):c.708-1G>A
|
rs1554222508
|
|
NM_138694.4(PKHD1):c.708-2A>C
|
rs753492974
|
|
NM_138694.4(PKHD1):c.7083T>C (p.Thr2361=)
|
rs2127556575
|
|
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter)
|
rs1057516221
|
|
NM_138694.4(PKHD1):c.7101T>A (p.Ser2367=)
|
|
|
NM_138694.4(PKHD1):c.7101T>C (p.Ser2367=)
|
|
|
NM_138694.4(PKHD1):c.7106_7108del (p.Thr2369del)
|
rs1554290053
|
|
NM_138694.4(PKHD1):c.7107C>T (p.Thr2369=)
|
rs780245178
|
|
NM_138694.4(PKHD1):c.7109+15A>C
|
|
|
NM_138694.4(PKHD1):c.7109+19A>C
|
|
|
NM_138694.4(PKHD1):c.7109+19A>G
|
|
|
NM_138694.4(PKHD1):c.7109+19A>T
|
|
|
NM_138694.4(PKHD1):c.7109+7T>C
|
rs2127556263
|
|
NM_138694.4(PKHD1):c.7110-11T>C
|
|
|
NM_138694.4(PKHD1):c.7110-5T>C
|
rs2127552474
|
|
NM_138694.4(PKHD1):c.7110-7T>G
|
|
|
NM_138694.4(PKHD1):c.7110-9A>G
|
|
|
NM_138694.4(PKHD1):c.711A>C (p.Ser237=)
|
|
|
NM_138694.4(PKHD1):c.711A>G (p.Ser237=)
|
rs138184195
|
|
NM_138694.4(PKHD1):c.7122T>C (p.Phe2374=)
|
rs2127552359
|
|
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)
|
rs1554289495
|
|
NM_138694.4(PKHD1):c.7125A>G (p.Val2375=)
|
|
|
NM_138694.4(PKHD1):c.7128C>T (p.Tyr2376=)
|
rs1778144240
|
|
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
|
|
|
NM_138694.4(PKHD1):c.7138C>T (p.Gln2380Ter)
|
|
|
NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter)
|
rs757590581
|
|
NM_138694.4(PKHD1):c.7158C>T (p.Val2386=)
|
rs1166219544
|
|
NM_138694.4(PKHD1):c.7164C>G (p.Gly2388=)
|
rs2127552139
|
|
NM_138694.4(PKHD1):c.7171C>G (p.Leu2391Val)
|
|
|
NM_138694.4(PKHD1):c.7171C>T (p.Leu2391=)
|
rs767554968
|
|
NM_138694.4(PKHD1):c.7171_7172del (p.Leu2391fs)
|
|
|
NM_138694.4(PKHD1):c.7172T>C (p.Leu2391Pro)
|
rs759314898
|
|
NM_138694.4(PKHD1):c.7173G>A (p.Leu2391=)
|
|
|
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=)
|
rs765985090
|
|
NM_138694.4(PKHD1):c.7173G>T (p.Leu2391=)
|
|
|
NM_138694.4(PKHD1):c.717C>T (p.Val239=)
|
rs2128228041
|
|
NM_138694.4(PKHD1):c.7180A>G (p.Ser2394Gly)
|
|
|
NM_138694.4(PKHD1):c.7182C>T (p.Ser2394=)
|
|
|
NM_138694.4(PKHD1):c.7188A>G (p.Thr2396=)
|
|
|
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs)
|
|
|
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
|
|
|
NM_138694.4(PKHD1):c.7210G>A (p.Ala2404Thr)
|
|
|
NM_138694.4(PKHD1):c.7212C>A (p.Ala2404=)
|
|
|
NM_138694.4(PKHD1):c.7212C>T (p.Ala2404=)
|
rs1778126498
|
|
NM_138694.4(PKHD1):c.7215+10T>G
|
rs1583197044
|
|
NM_138694.4(PKHD1):c.7215+11T>A
|
|
|
NM_138694.4(PKHD1):c.7215+12T>G
|
|
|
NM_138694.4(PKHD1):c.7215+12del
|
|
|
NM_138694.4(PKHD1):c.7215+12dup
|
|
|
NM_138694.4(PKHD1):c.7215+13G>A
|
|
|
NM_138694.4(PKHD1):c.7215+1G>T
|
|
|
NM_138694.4(PKHD1):c.7216-16A>G
|
|
|
NM_138694.4(PKHD1):c.7216-18A>T
|
|
|
NM_138694.4(PKHD1):c.7216-4A>G
|
rs201220508
|
|
NM_138694.4(PKHD1):c.7216-4A>T
|
rs201220508
|
|
NM_138694.4(PKHD1):c.7216-6T>C
|
rs2127542020
|
|
NM_138694.4(PKHD1):c.7218T>A (p.Ile2406=)
|
|
|
NM_138694.4(PKHD1):c.7227T>C (p.Ser2409=)
|
|
|
NM_138694.4(PKHD1):c.723G>A (p.Lys241=)
|
rs886044700
|
|
NM_138694.4(PKHD1):c.7245A>G (p.Lys2415=)
|
|
|
NM_138694.4(PKHD1):c.7248C>T (p.Asn2416=)
|
rs1583184772
|
|
NM_138694.4(PKHD1):c.7253_7254del (p.Lys2418fs)
|
|
|
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7270del (p.Asp2424fs)
|
rs1057516596
|
|
NM_138694.4(PKHD1):c.727G>T (p.Ala243Ser)
|
rs773601448
|
|
NM_138694.4(PKHD1):c.7286T>C (p.Val2429Ala)
|
|
|
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val)
|
rs753450358
|
|
NM_138694.4(PKHD1):c.7305T>C (p.Asn2435=)
|
rs1359818748
|
|
NM_138694.4(PKHD1):c.7305T>G (p.Asn2435Lys)
|
|
|
NM_138694.4(PKHD1):c.7308T>C (p.Thr2436=)
|
|
|
NM_138694.4(PKHD1):c.7311A>G (p.Ser2437=)
|
rs1777639927
|
|
NM_138694.4(PKHD1):c.7317T>A (p.Thr2439=)
|
rs374113485
|
|
NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter)
|
rs1582085757
|
|
NM_138694.4(PKHD1):c.733C>T (p.Leu245=)
|
rs111809699
|
|
NM_138694.4(PKHD1):c.7344C>G (p.Ala2448=)
|
rs1203428569
|
|
NM_138694.4(PKHD1):c.7350+12A>C
|
|
|
NM_138694.4(PKHD1):c.7350+13G>A
|
|
|
NM_138694.4(PKHD1):c.7350+14T>G
|
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7350+2T>A
|
|
|
NM_138694.4(PKHD1):c.7350+5G>A
|
rs1554287798
|
|
NM_138694.4(PKHD1):c.7350+7G>A
|
|
|
NM_138694.4(PKHD1):c.7350+8C>T
|
rs2127541163
|
|
NM_138694.4(PKHD1):c.7351-12T>C
|
|
|
NM_138694.4(PKHD1):c.7351-14C>G
|
|
|
NM_138694.4(PKHD1):c.7351-15del
|
|
|
NM_138694.4(PKHD1):c.7351-17T>C
|
|
|
NM_138694.4(PKHD1):c.7351-19T>C
|
|
|
NM_138694.4(PKHD1):c.7351-1G>C
|
rs1554282540
|
|
NM_138694.4(PKHD1):c.7351-20T>A
|
|
|
NM_138694.4(PKHD1):c.7351-21dup
|
rs768522482
|
|
NM_138694.4(PKHD1):c.7351-5C>T
|
|
|
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr)
|
rs1037991711
|
|
NM_138694.4(PKHD1):c.7389A>G (p.Lys2463=)
|
rs745756086
|
|
NM_138694.4(PKHD1):c.7392A>G (p.Arg2464=)
|
rs1775822734
|
|
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter)
|
rs1231660958
|
|
NM_138694.4(PKHD1):c.7399C>T (p.Leu2467=)
|
|
|
NM_138694.4(PKHD1):c.7417del (p.Thr2473fs)
|
|
|
NM_138694.4(PKHD1):c.741T>C (p.Ser247=)
|
|
|
NM_138694.4(PKHD1):c.7422T>C (p.Phe2474=)
|
rs2151777864
|
|
NM_138694.4(PKHD1):c.7429T>A (p.Phe2477Ile)
|
rs2151777825
|
|
NM_138694.4(PKHD1):c.7440C>T (p.Ile2480=)
|
|
|
NM_138694.4(PKHD1):c.7443C>T (p.Asn2481=)
|
rs2151777621
|
|
NM_138694.4(PKHD1):c.7465del (p.Ser2489fs)
|
rs2151777326
|
|
NM_138694.4(PKHD1):c.7472G>A (p.Cys2491Tyr)
|
rs774331743
|
|
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter)
|
rs2151777194
|
|
NM_138694.4(PKHD1):c.7476C>T (p.Ser2492=)
|
|
|
NM_138694.4(PKHD1):c.7486+18C>T
|
|
|
NM_138694.4(PKHD1):c.7486+1G>T
|
rs1554282419
|
|
NM_138694.4(PKHD1):c.7486+41C>A
|
rs982874
|
|
NM_138694.4(PKHD1):c.7486+9T>C
|
|
|
NM_138694.4(PKHD1):c.7487-11C>A
|
|
|
NM_138694.4(PKHD1):c.7487-15T>C
|
|
|
NM_138694.4(PKHD1):c.7487-18_7487-17del
|
|
|
NM_138694.4(PKHD1):c.7487-19T>C
|
|
|
NM_138694.4(PKHD1):c.7487-5TA[3]
|
rs1554281310
|
|
NM_138694.4(PKHD1):c.7487-6T>C
|
rs2151762235
|
|
NM_138694.4(PKHD1):c.7488T>G (p.Gly2496=)
|
|
|
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)
|
rs1057516768
|
|
NM_138694.4(PKHD1):c.7503G>A (p.Lys2501=)
|
rs1775378970
|
|
NM_138694.4(PKHD1):c.7506C>A (p.Thr2502=)
|
|
|
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter)
|
rs769645972
|
|
NM_138694.4(PKHD1):c.7529_7530del (p.Ser2510fs)
|
rs2151761823
|
|
NM_138694.4(PKHD1):c.7542G>A (p.Val2514=)
|
|
|
NM_138694.4(PKHD1):c.7551A>G (p.Pro2517=)
|
rs1775368341
|
|
NM_138694.4(PKHD1):c.7551A>T (p.Pro2517=)
|
rs1775368341
|
|
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs)
|
rs863224528
|
|
NM_138694.4(PKHD1):c.7566A>G (p.Ala2522=)
|
|
|
NM_138694.4(PKHD1):c.7570T>C (p.Leu2524=)
|
|
|
NM_138694.4(PKHD1):c.7579T>C (p.Leu2527=)
|
rs1775363248
|
|
NM_138694.4(PKHD1):c.7587G>T (p.Gly2529=)
|
rs12210295
|
|
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro)
|
rs1775360219
|
|
NM_138694.4(PKHD1):c.7594_7597del (p.Ser2532fs)
|
|
|
NM_138694.4(PKHD1):c.7597G>C (p.Gly2533Arg)
|
rs1246936197
|
|
NM_138694.4(PKHD1):c.7601A>G (p.Lys2534Arg)
|
rs1775357730
|
|
NM_138694.4(PKHD1):c.7602A>G (p.Lys2534=)
|
|
|
NM_138694.4(PKHD1):c.7605C>T (p.Asn2535=)
|
|
|
NM_138694.4(PKHD1):c.7614C>T (p.His2538=)
|
|
|
NM_138694.4(PKHD1):c.7620T>C (p.Leu2540=)
|
|
|
NM_138694.4(PKHD1):c.7623T>C (p.Ala2541=)
|
|
|
NM_138694.4(PKHD1):c.762A>G (p.Leu254=)
|
|
|
NM_138694.4(PKHD1):c.7635C>A (p.Thr2545=)
|
|
|
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=)
|
rs779757789
|
|
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs)
|
rs1775351921
|
|
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys)
|
rs886042259
|
|
NM_138694.4(PKHD1):c.7651_7652dup (p.Leu2551fs)
|
|
|
NM_138694.4(PKHD1):c.7656C>T (p.Val2552=)
|
|
|
NM_138694.4(PKHD1):c.7662A>G (p.Ser2554=)
|
|
|
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln)
|
rs369677008
|
|
NM_138694.4(PKHD1):c.7673G>C (p.Arg2558Pro)
|
|
|
NM_138694.4(PKHD1):c.7684G>A (p.Gly2562Ser)
|
rs1358906875
|
|
NM_138694.4(PKHD1):c.7689T>C (p.Ser2563=)
|
rs1490760433
|
|
NM_138694.4(PKHD1):c.7695T>C (p.Cys2565=)
|
rs2151760253
|
|
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)
|
rs1057516751
|
|
NM_138694.4(PKHD1):c.769A>C (p.Thr257Pro)
|
rs778755997
|
|
NM_138694.4(PKHD1):c.7713del (p.His2572fs)
|
rs1057517078
|
|
NM_138694.4(PKHD1):c.7714C>G (p.His2572Asp)
|
|
|
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg)
|
rs768265052
|
|
NM_138694.4(PKHD1):c.7725T>G (p.Ser2575=)
|
rs2151759903
|
|
NM_138694.4(PKHD1):c.7733+20C>A
|
|
|
NM_138694.4(PKHD1):c.7733+7G>A
|
|
|
NM_138694.4(PKHD1):c.7734-19C>T
|
|
|
NM_138694.4(PKHD1):c.7734-20del
|
|
|
NM_138694.4(PKHD1):c.7734-27_7734-26dup
|
rs201176305
|
|
NM_138694.4(PKHD1):c.7734-27dup
|
rs201176305
|
|
NM_138694.4(PKHD1):c.7737G>C (p.Ala2579=)
|
|
|
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile)
|
rs748895723
|
|
NM_138694.4(PKHD1):c.7755T>C (p.Ser2585=)
|
|
|
NM_138694.4(PKHD1):c.7765_7766delinsT (p.Thr2589fs)
|
rs1773247172
|
|
NM_138694.4(PKHD1):c.7767C>G (p.Thr2589=)
|
rs1583054941
|
|
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu)
|
rs1160054242
|
|
NM_138694.4(PKHD1):c.7776C>T (p.Asp2592=)
|
rs2151688855
|
|
NM_138694.4(PKHD1):c.778+10C>G
|
rs1365502451
|
|
NM_138694.4(PKHD1):c.778+12del
|
|
|
NM_138694.4(PKHD1):c.778+17C>T
|
|
|
NM_138694.4(PKHD1):c.778+18C>G
|
rs2128227904
|
|
NM_138694.4(PKHD1):c.778+18_778+43del
|
|
|
NM_138694.4(PKHD1):c.778+1G>C
|
rs753471298
|
|
NM_138694.4(PKHD1):c.778+3A>G
|
|
|
NM_138694.4(PKHD1):c.778+8C>G
|
rs2128227926
|
|
NM_138694.4(PKHD1):c.778+9C>T
|
rs755643890
|
|
NM_138694.4(PKHD1):c.779-10dup
|
|
|
NM_138694.4(PKHD1):c.779-12del
|
rs5876252
|
|
NM_138694.4(PKHD1):c.779-13_779-12del
|
rs5876252
|
|
NM_138694.4(PKHD1):c.779-17T>A
|
|
|
NM_138694.4(PKHD1):c.779-17_779-16insC
|
|
|
NM_138694.4(PKHD1):c.779-1G>A
|
|
|
NM_138694.4(PKHD1):c.779-25dup
|
rs5876252
|
|
NM_138694.4(PKHD1):c.779-2A>G
|
rs2128224166
|
|
NM_138694.4(PKHD1):c.779-7C>T
|
rs749068364
|
|
NM_138694.4(PKHD1):c.779-9dup
|
rs886061624
|
|
NM_138694.4(PKHD1):c.7791A>C (p.Thr2597=)
|
rs2151688677
|
|
NM_138694.4(PKHD1):c.7797T>C (p.Thr2599=)
|
rs2151688609
|
|
NM_138694.4(PKHD1):c.7806T>C (p.Tyr2602=)
|
rs753996496
|
|
NM_138694.4(PKHD1):c.7811G>A (p.Arg2604His)
|
|
|
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs)
|
rs1583054534
|
|
NM_138694.4(PKHD1):c.7814A>C (p.Asp2605Ala)
|
rs1773239517
|
|
NM_138694.4(PKHD1):c.7815T>C (p.Asp2605=)
|
|
|
NM_138694.4(PKHD1):c.782T>C (p.Ile261Thr)
|
rs398124493
|
|
NM_138694.4(PKHD1):c.7846C>T (p.Leu2616=)
|
rs2151687920
|
|
NM_138694.4(PKHD1):c.7849C>T (p.Leu2617Phe)
|
rs746288867
|
|
NM_138694.4(PKHD1):c.784T>C (p.Leu262=)
|
|
|
NM_138694.4(PKHD1):c.7863G>A (p.Glu2621=)
|
|
|
NM_138694.4(PKHD1):c.7866C>G (p.Thr2622=)
|
rs752563887
|
|
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=)
|
rs752563887
|
|
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs)
|
rs1057516690
|
|
NM_138694.4(PKHD1):c.7867T>C (p.Tyr2623His)
|
|
|
NM_138694.4(PKHD1):c.7867del (p.Tyr2623fs)
|
|
|
NM_138694.4(PKHD1):c.7869C>T (p.Tyr2623=)
|
rs2151687631
|
|
NM_138694.4(PKHD1):c.786A>G (p.Leu262=)
|
rs570064466
|
|
NM_138694.4(PKHD1):c.7872A>G (p.Ser2624=)
|
|
|
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
|
|
|
NM_138694.4(PKHD1):c.7880_7881del (p.Gln2626_Ser2627insTer)
|
|
|
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs)
|
rs1583053996
|
|
NM_138694.4(PKHD1):c.788C>T (p.Ser263Phe)
|
|
|
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs)
|
rs1045491786
|
|
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer)
|
rs1057516607
|
|
NM_138694.4(PKHD1):c.790G>A (p.Val264Met)
|
rs1809647915
|
|
NM_138694.4(PKHD1):c.7911+11G>A
|
|
|
NM_138694.4(PKHD1):c.7911+7C>G
|
rs1380750885
|
|
NM_138694.4(PKHD1):c.7911+7del
|
rs1773215949
|
|
NM_138694.4(PKHD1):c.7912-12T>C
|
|
|
NM_138694.4(PKHD1):c.7912-13C>T
|
|
|
NM_138694.4(PKHD1):c.7912-1G>A
|
rs1160209891
|
|
NM_138694.4(PKHD1):c.7912-1G>C
|
rs1160209891
|
|
NM_138694.4(PKHD1):c.7912-2A>G
|
rs1554271235
|
|
NM_138694.4(PKHD1):c.7912-5T>C
|
|
|
NM_138694.4(PKHD1):c.7912-8A>G
|
rs1771514597
|
|
NM_138694.4(PKHD1):c.7917A>C (p.Ser2639=)
|
|
|
NM_138694.4(PKHD1):c.7917A>T (p.Ser2639=)
|
|
|
NM_138694.4(PKHD1):c.7929C>T (p.Asp2643=)
|
|
|
NM_138694.4(PKHD1):c.792G>C (p.Val264=)
|
|
|
NM_138694.4(PKHD1):c.7944del (p.Asn2649fs)
|
|
|
NM_138694.4(PKHD1):c.7947T>C (p.Asn2649=)
|
|
|
NM_138694.4(PKHD1):c.7950C>G (p.Tyr2650Ter)
|
|
|
NM_138694.4(PKHD1):c.7950C>T (p.Tyr2650=)
|
|
|
NM_138694.4(PKHD1):c.7957C>T (p.Leu2653=)
|
rs556212333
|
|
NM_138694.4(PKHD1):c.7959G>C (p.Leu2653=)
|
rs2151628824
|
|
NM_138694.4(PKHD1):c.795T>C (p.Phe265=)
|
|
|
NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn)
|
|
|
NM_138694.4(PKHD1):c.7964A>G (p.His2655Arg)
|
|
|
NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter)
|
rs1482563973
|
|
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)
|
rs1583013487
|
|
NM_138694.4(PKHD1):c.7985_7986del (p.Pro2662fs)
|
|
|
NM_138694.4(PKHD1):c.7986T>G (p.Pro2662=)
|
rs1583013411
|
|
NM_138694.4(PKHD1):c.7992C>A (p.Ile2664=)
|
|
|
NM_138694.4(PKHD1):c.7992C>T (p.Ile2664=)
|
rs2151628547
|
|
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
|
|
|
NM_138694.4(PKHD1):c.7995C>A (p.Leu2665=)
|
|
|
NM_138694.4(PKHD1):c.7996C>T (p.Leu2666=)
|
rs1289882278
|
|
NM_138694.4(PKHD1):c.7998A>C (p.Leu2666=)
|
|
|
NM_138694.4(PKHD1):c.7999A>C (p.Arg2667=)
|
rs2151628433
|
|
NM_138694.4(PKHD1):c.8007G>T (p.Gly2669=)
|
|
|
NM_138694.4(PKHD1):c.8011C>A (p.Arg2671=)
|
rs137852947
|
|
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro)
|
rs778592523
|
|
NM_138694.4(PKHD1):c.8012G>T (p.Arg2671Leu)
|
rs778592523
|
|
NM_138694.4(PKHD1):c.8013A>T (p.Arg2671=)
|
|
|
NM_138694.4(PKHD1):c.8019T>C (p.Gly2673=)
|
rs753565361
|
|
NM_138694.4(PKHD1):c.8023T>A (p.Ser2675Thr)
|
|
|
NM_138694.4(PKHD1):c.8025T>A (p.Ser2675=)
|
|
|
NM_138694.4(PKHD1):c.8037T>G (p.Leu2679=)
|
rs2151627998
|
|
NM_138694.4(PKHD1):c.8040A>G (p.Pro2680=)
|
|
|
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter)
|
rs1057516490
|
|
NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly)
|
|
|
NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser)
|
|
|
NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu)
|
rs768660365
|
|
NM_138694.4(PKHD1):c.8079T>C (p.Asn2693=)
|
rs1168857318
|
|
NM_138694.4(PKHD1):c.8088G>A (p.Leu2696=)
|
|
|
NM_138694.4(PKHD1):c.8088G>C (p.Leu2696=)
|
rs2151627500
|
|
NM_138694.4(PKHD1):c.8090G>C (p.Arg2697Thr)
|
|
|
NM_138694.4(PKHD1):c.8091G>A (p.Arg2697=)
|
rs2151627451
|
|
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro)
|
rs1771471295
|
|
NM_138694.4(PKHD1):c.8102_8107+8del
|
rs2151627285
|
|
NM_138694.4(PKHD1):c.8104C>T (p.Leu2702=)
|
rs2151627328
|
|
NM_138694.4(PKHD1):c.8107+13T>C
|
|
|
NM_138694.4(PKHD1):c.8107+19G>A
|
|
|
NM_138694.4(PKHD1):c.8107+1G>C
|
rs1554270880
|
|
NM_138694.4(PKHD1):c.8107+4555A>G
|
rs207466959
|
|
NM_138694.4(PKHD1):c.8107+7A>G
|
|
|
NM_138694.4(PKHD1):c.8107+9C>T
|
rs1209995016
|
|
NM_138694.4(PKHD1):c.8108-17T>C
|
|
|
NM_138694.4(PKHD1):c.8108-20T>C
|
|
|
NM_138694.4(PKHD1):c.8108-6A>G
|
rs2151550155
|
|
NM_138694.4(PKHD1):c.8108-8G>T
|
|
|
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)
|
rs754448530
|
|
NM_138694.4(PKHD1):c.8110T>A (p.Ser2704Thr)
|
|
|
NM_138694.4(PKHD1):c.8112A>G (p.Ser2704=)
|
rs749153516
|
|
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)
|
rs774050795
|
|
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)
|
rs1473182306
|
|
NM_138694.4(PKHD1):c.8128C>T (p.Gln2710Ter)
|
rs2151549840
|
|
NM_138694.4(PKHD1):c.813T>G (p.Leu271=)
|
|
|
NM_138694.4(PKHD1):c.8142G>C (p.Arg2714=)
|
|
|
NM_138694.4(PKHD1):c.8145G>T (p.Val2715=)
|
rs1431478120
|
|
NM_138694.4(PKHD1):c.8148G>A (p.Lys2716=)
|
|
|
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)
|
rs1769233531
|
|
NM_138694.4(PKHD1):c.8160C>T (p.Pro2720=)
|
rs2151549336
|
|
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs)
|
rs1057516775
|
|
NM_138694.4(PKHD1):c.8163A>G (p.Pro2721=)
|
rs764470314
|
|
NM_138694.4(PKHD1):c.8173+10A>G
|
rs2151549146
|
|
NM_138694.4(PKHD1):c.8173+16C>T
|
|
|
NM_138694.4(PKHD1):c.8173+17G>A
|
|
|
NM_138694.4(PKHD1):c.8173+2T>G
|
rs2151549200
|
|
NM_138694.4(PKHD1):c.8173+8T>C
|
|
|
NM_138694.4(PKHD1):c.8174-10del
|
rs566540835
|
|
NM_138694.4(PKHD1):c.8174-13T>C
|
|
|
NM_138694.4(PKHD1):c.8174-16T>G
|
|
|
NM_138694.4(PKHD1):c.8174-18dup
|
rs566540835
|
|
NM_138694.4(PKHD1):c.8174-19dup
|
|
|
NM_138694.4(PKHD1):c.8174-20A>G
|
|
|
NM_138694.4(PKHD1):c.8174-2A>G
|
|
|
NM_138694.4(PKHD1):c.8174-2A>T
|
rs1582925274
|
|
NM_138694.4(PKHD1):c.8174-7T>C
|
|
|
NM_138694.4(PKHD1):c.8174-9A>G
|
rs1216410028
|
|
NM_138694.4(PKHD1):c.8181C>T (p.Thr2727=)
|
|
|
NM_138694.4(PKHD1):c.8187C>G (p.Ala2729=)
|
|
|
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)
|
rs886042676
|
|
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter)
|
rs2151512212
|
|
NM_138694.4(PKHD1):c.8196A>G (p.Ser2732=)
|
rs773285582
|
|
NM_138694.4(PKHD1):c.8202A>G (p.Leu2734=)
|
|
|
NM_138694.4(PKHD1):c.8205A>G (p.Lys2735=)
|
|
|
NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg)
|
|
|
NM_138694.4(PKHD1):c.8207G>C (p.Trp2736Ser)
|
rs1562410452
|
|
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter)
|
rs2151512054
|
|
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs)
|
rs2151512076
|
|
NM_138694.4(PKHD1):c.820dup (p.Arg274fs)
|
rs1582064844
|
|
NM_138694.4(PKHD1):c.8217T>C (p.Pro2739=)
|
|
|
NM_138694.4(PKHD1):c.821_822del (p.Arg274fs)
|
|
|
NM_138694.4(PKHD1):c.8223A>C (p.Thr2741=)
|
rs749978658
|
|
NM_138694.4(PKHD1):c.8223A>G (p.Thr2741=)
|
rs749978658
|
|
NM_138694.4(PKHD1):c.8223A>T (p.Thr2741=)
|
|
|
NM_138694.4(PKHD1):c.822A>G (p.Arg274=)
|
rs2128224054
|
|
NM_138694.4(PKHD1):c.8232T>A (p.Gly2744=)
|
rs2151511754
|
|
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
|
rs794727756
|
|
NM_138694.4(PKHD1):c.8244C>T (p.Gly2748=)
|
|
|
NM_138694.4(PKHD1):c.8253A>T (p.Gly2751=)
|
rs2151511551
|
|
NM_138694.4(PKHD1):c.8258A>G (p.Asn2753Ser)
|
rs749313015
|
|
NM_138694.4(PKHD1):c.8265C>A (p.Thr2755=)
|
rs1582924494
|
|
NM_138694.4(PKHD1):c.8265C>G (p.Thr2755=)
|
|
|
NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg)
|
rs1554263087
|
|
NM_138694.4(PKHD1):c.8274C>T (p.Gly2758=)
|
rs368178645
|
|
NM_138694.4(PKHD1):c.8277T>G (p.Pro2759=)
|
|
|
NM_138694.4(PKHD1):c.8281G>T (p.Asp2761Tyr)
|
rs1554263080
|
|
NM_138694.4(PKHD1):c.8282A>T (p.Asp2761Val)
|
rs2151511198
|
|
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val)
|
rs1554263076
|
|
NM_138694.4(PKHD1):c.8289del (p.Leu2764fs)
|
rs1768123584
|
|
NM_138694.4(PKHD1):c.828C>T (p.Asn276=)
|
|
|
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser)
|
rs764600547
|
|
NM_138694.4(PKHD1):c.8302+16C>G
|
|
|
NM_138694.4(PKHD1):c.8302+19G>A
|
|
|
NM_138694.4(PKHD1):c.8303-1G>A
|
rs786204241
|
|
NM_138694.4(PKHD1):c.8303-2A>G
|
rs1554243821
|
|
NM_138694.4(PKHD1):c.8303-4A>G
|
rs2151263287
|
|
NM_138694.4(PKHD1):c.8303-5C>A
|
|
|
NM_138694.4(PKHD1):c.8303-5C>T
|
rs2151263317
|
|
NM_138694.4(PKHD1):c.8303-9C>T
|
|
|
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala)
|
rs1793719203
|
|
NM_138694.4(PKHD1):c.8332C>T (p.Pro2778Ser)
|
|
|
NM_138694.4(PKHD1):c.8334A>G (p.Pro2778=)
|
|
|
NM_138694.4(PKHD1):c.8345G>A (p.Gly2782Glu)
|
|
|
NM_138694.4(PKHD1):c.8349G>C (p.Leu2783=)
|
|
|
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys)
|
rs1793710520
|
|
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
|
|
|
NM_138694.4(PKHD1):c.8352T>C (p.Tyr2784=)
|
|
|
NM_138694.4(PKHD1):c.8361G>A (p.Gly2787=)
|
rs1457123441
|
|
NM_138694.4(PKHD1):c.8363C>G (p.Thr2788Ser)
|
rs2151262384
|
|
NM_138694.4(PKHD1):c.8378T>C (p.Val2793Ala)
|
rs2151262174
|
|
NM_138694.4(PKHD1):c.8379G>A (p.Val2793=)
|
|
|
NM_138694.4(PKHD1):c.8393T>G (p.Val2798Gly)
|
rs1554243589
|
|
NM_138694.4(PKHD1):c.8394T>C (p.Val2798=)
|
rs897476178
|
|
NM_138694.4(PKHD1):c.8395C>T (p.Leu2799=)
|
|
|
NM_138694.4(PKHD1):c.8400T>C (p.Ser2800=)
|
rs2151261758
|
|
NM_138694.4(PKHD1):c.8406A>G (p.Ala2802=)
|
rs2151261646
|
|
NM_138694.4(PKHD1):c.8409C>A (p.Cys2803Ter)
|
|
|
NM_138694.4(PKHD1):c.840A>C (p.Thr280=)
|
rs1461472339
|
|
NM_138694.4(PKHD1):c.840A>G (p.Thr280=)
|
rs1461472339
|
|
NM_138694.4(PKHD1):c.840del (p.Gly281fs)
|
|
|
NM_138694.4(PKHD1):c.8412G>A (p.Met2804Ile)
|
rs1363630467
|
|
NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu)
|
rs2151261317
|
|
NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu)
|
rs1809634616
|
|
NM_138694.4(PKHD1):c.843A>G (p.Gly281=)
|
|
|
NM_138694.4(PKHD1):c.8440+11G>T
|
|
|
NM_138694.4(PKHD1):c.8440+14C>T
|
|
|
NM_138694.4(PKHD1):c.8440+1G>A
|
rs1793689014
|
|
NM_138694.4(PKHD1):c.8440+20T>A
|
|
|
NM_138694.4(PKHD1):c.8440+9A>G
|
|
|
NM_138694.4(PKHD1):c.8441-10T>C
|
rs1255643305
|
|
NM_138694.4(PKHD1):c.8441-12del
|
|
|
NM_138694.4(PKHD1):c.8441-17C>T
|
|
|
NM_138694.4(PKHD1):c.8441-18A>G
|
|
|
NM_138694.4(PKHD1):c.8441-19T>C
|
|
|
NM_138694.4(PKHD1):c.8441-1G>A
|
|
|
NM_138694.4(PKHD1):c.8441-5A>G
|
rs922193595
|
|
NM_138694.4(PKHD1):c.8441-6A>G
|
|
|
NM_138694.4(PKHD1):c.8445T>G (p.Thr2815=)
|
|
|
NM_138694.4(PKHD1):c.8453del (p.Asn2818fs)
|
rs1790945437
|
|
NM_138694.4(PKHD1):c.8470C>G (p.Gln2824Glu)
|
|
|
NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile)
|
|
|
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)
|
rs375145340
|
|
NM_138694.4(PKHD1):c.8490T>A (p.Leu2830=)
|
rs746539989
|
|
NM_138694.4(PKHD1):c.8490T>C (p.Leu2830=)
|
|
|
NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro)
|
rs1790936941
|
|
NM_138694.4(PKHD1):c.8499A>C (p.Ser2833=)
|
|
|
NM_138694.4(PKHD1):c.8508C>T (p.Val2836=)
|
rs1458400313
|
|
NM_138694.4(PKHD1):c.8514T>C (p.Cys2838=)
|
|
|
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly)
|
rs200432861
|
|
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter)
|
rs2128223990
|
|
NM_138694.4(PKHD1):c.8541C>T (p.Asp2847=)
|
|
|
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs)
|
rs746625317
|
|
NM_138694.4(PKHD1):c.8544A>G (p.Pro2848=)
|
rs1438081367
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.8553del (p.Ile2851fs)
|
|
|
NM_138694.4(PKHD1):c.8554+10T>A
|
|
|
NM_138694.4(PKHD1):c.8554+16A>G
|
|
|
NM_138694.4(PKHD1):c.8554+20T>G
|
|
|
NM_138694.4(PKHD1):c.8554+7G>A
|
rs2151159723
|
|
NM_138694.4(PKHD1):c.8554+8T>C
|
|
|
NM_138694.4(PKHD1):c.8554+9A>G
|
rs764785825
|
|
NM_138694.4(PKHD1):c.8555-12T>C
|
|
|
NM_138694.4(PKHD1):c.8555-14C>T
|
|
|
NM_138694.4(PKHD1):c.8555-16C>A
|
|
|
NM_138694.4(PKHD1):c.8555-19T>A
|
|
|
NM_138694.4(PKHD1):c.8555-19T>C
|
|
|
NM_138694.4(PKHD1):c.8555-1G>A
|
|
|
NM_138694.4(PKHD1):c.8555-2A>G
|
rs1020621286
|
|
NM_138694.4(PKHD1):c.8555-8A>G
|
|
|
NM_138694.4(PKHD1):c.8556G>A (p.Gly2852=)
|
|
|
NM_138694.4(PKHD1):c.8559T>G (p.Val2853=)
|
|
|
NM_138694.4(PKHD1):c.8562T>G (p.Tyr2854Ter)
|
|
|
NM_138694.4(PKHD1):c.8570T>C (p.Val2857Ala)
|
rs1790366459
|
|
NM_138694.4(PKHD1):c.8580C>T (p.Tyr2860=)
|
rs1582601662
|
|
NM_138694.4(PKHD1):c.8589T>C (p.Tyr2863=)
|
|
|
NM_138694.4(PKHD1):c.8590C>G (p.Pro2864Ala)
|
|
|
NM_138694.4(PKHD1):c.8598C>T (p.Asn2866=)
|
rs893003949
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.8604_8605del (p.Trp2868fs)
|
|
|
NM_138694.4(PKHD1):c.8607A>C (p.Thr2869=)
|
|
|
NM_138694.4(PKHD1):c.8607A>T (p.Thr2869=)
|
rs2151138145
|
|
NM_138694.4(PKHD1):c.8635A>T (p.Asn2879Tyr)
|
rs2151137736
|
|
NM_138694.4(PKHD1):c.8642+19T>G
|
|
|
NM_138694.4(PKHD1):c.8643-16dup
|
|
|
NM_138694.4(PKHD1):c.8643-17T>C
|
|
|
NM_138694.4(PKHD1):c.8643-7G>A
|
|
|
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)
|
rs1554221478
|
|
NM_138694.4(PKHD1):c.8652A>G (p.Val2884=)
|
|
|
NM_138694.4(PKHD1):c.865C>T (p.Gln289Ter)
|
rs2128223979
|
|
NM_138694.4(PKHD1):c.8667T>C (p.Asp2889=)
|
|
|
NM_138694.4(PKHD1):c.8668del (p.Trp2890fs)
|
rs2151021274
|
|
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=)
|
rs116098879
|
|
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp)
|
rs886061615
|
|
NM_138694.4(PKHD1):c.8677dup (p.His2893fs)
|
rs1554221465
|
|
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu)
|
rs1786704837
|
|
NM_138694.4(PKHD1):c.8688A>T (p.Ile2896=)
|
|
|
NM_138694.4(PKHD1):c.8694T>C (p.Leu2898=)
|
|
|
NM_138694.4(PKHD1):c.8697C>T (p.Ser2899=)
|
rs1363597984
|
|
NM_138694.4(PKHD1):c.8700C>G (p.Ser2900=)
|
|
|
NM_138694.4(PKHD1):c.8700C>T (p.Ser2900=)
|
|
|
NM_138694.4(PKHD1):c.8709T>C (p.Tyr2903=)
|
rs1016868995
|
|
NM_138694.4(PKHD1):c.8712G>A (p.Glu2904=)
|
|
|
NM_138694.4(PKHD1):c.8724A>G (p.Ala2908=)
|
|
|
NM_138694.4(PKHD1):c.8731del (p.Leu2911fs)
|
rs2151020773
|
|
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs)
|
rs1582479341
|
|
NM_138694.4(PKHD1):c.8741AAG[3] (p.Glu2915dup)
|
rs1554221417
|
|
NM_138694.4(PKHD1):c.8751G>A (p.Lys2917=)
|
|
|
NM_138694.4(PKHD1):c.8754C>G (p.Gly2918=)
|
|
|
NM_138694.4(PKHD1):c.8757C>T (p.His2919=)
|
rs2151020553
|
|
NM_138694.4(PKHD1):c.8760T>C (p.His2920=)
|
rs2151020510
|
|
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)
|
rs749768205
|
|
NM_138694.4(PKHD1):c.8778G>A (p.Arg2926=)
|
rs754005242
|
|
NM_138694.4(PKHD1):c.8781C>G (p.Leu2927=)
|
rs2151020320
|
|
NM_138694.4(PKHD1):c.8782A>T (p.Lys2928Ter)
|
rs2151020303
|
|
NM_138694.4(PKHD1):c.8789G>A (p.Arg2930Gln)
|
|
|
NM_138694.4(PKHD1):c.8790G>T (p.Arg2930=)
|
|
|
NM_138694.4(PKHD1):c.8797+16G>A
|
|
|
NM_138694.4(PKHD1):c.8797+1G>A
|
rs2151020151
|
|
NM_138694.4(PKHD1):c.8797+20G>T
|
rs766264473
|
|
NM_138694.4(PKHD1):c.8798-15C>A
|
|
|
NM_138694.4(PKHD1):c.8798-17A>G
|
|
|
NM_138694.4(PKHD1):c.8798-19A>G
|
|
|
NM_138694.4(PKHD1):c.8798-19A>T
|
|
|
NM_138694.4(PKHD1):c.8798-2A>T
|
rs1582470309
|
|
NM_138694.4(PKHD1):c.8798-6_8798-5delinsTT
|
rs2151012388
|
|
NM_138694.4(PKHD1):c.8798-7G>A
|
rs1554220805
|
|
NM_138694.4(PKHD1):c.8798-8T>C
|
|
|
NM_138694.4(PKHD1):c.8799_8801dup (p.Gly2933_Ser2934insArg)
|
rs781387046
|
|
NM_138694.4(PKHD1):c.880+1G>A
|
rs1582064292
|
|
NM_138694.4(PKHD1):c.880+7A>G
|
rs2128223925
|
|
NM_138694.4(PKHD1):c.8807A>G (p.His2936Arg)
|
|
|
NM_138694.4(PKHD1):c.8808T>C (p.His2936=)
|
rs2151012284
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.881-20A>G
|
|
|
NM_138694.4(PKHD1):c.881-4T>G
|
|
|
NM_138694.4(PKHD1):c.8811C>A (p.Val2937=)
|
rs752973353
|
|
NM_138694.4(PKHD1):c.8820T>C (p.Asp2940=)
|
rs766377653
|
|
NM_138694.4(PKHD1):c.8829dup (p.Ile2944fs)
|
rs2151011995
|
|
NM_138694.4(PKHD1):c.8832T>A (p.Ile2944=)
|
|
|
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs)
|
rs1057517244
|
|
NM_138694.4(PKHD1):c.8835T>G (p.Arg2945=)
|
|
|
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)
|
rs1582469785
|
|
NM_138694.4(PKHD1):c.8837del (p.Leu2946fs)
|
|
|
NM_138694.4(PKHD1):c.8841T>C (p.Ala2947=)
|
|
|
NM_138694.4(PKHD1):c.8847G>A (p.Glu2949=)
|
|
|
NM_138694.4(PKHD1):c.8850T>C (p.Val2950=)
|
rs1786416361
|
|
NM_138694.4(PKHD1):c.8854C>T (p.Leu2952=)
|
|
|
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter)
|
rs1229564017
|
|
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)
|
rs1582469538
|
|
NM_138694.4(PKHD1):c.8868T>C (p.Asn2956=)
|
|
|
NM_138694.4(PKHD1):c.8870_8874del (p.Ile2957fs)
|
|
|
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
|
|
|
NM_138694.4(PKHD1):c.8885A>G (p.Asp2962Gly)
|
rs1554220680
|
|
NM_138694.4(PKHD1):c.8889A>C (p.Val2963=)
|
|
|
NM_138694.4(PKHD1):c.888A>G (p.Pro296=)
|
rs76012218
|
|
NM_138694.4(PKHD1):c.8892A>G (p.Ser2964=)
|
|
|
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)
|
rs770068023
|
|
NM_138694.4(PKHD1):c.8894G>A (p.Cys2965Tyr)
|
rs1786406368
|
|
NM_138694.4(PKHD1):c.8895T>C (p.Cys2965=)
|
rs748369784
|
|
NM_138694.4(PKHD1):c.889T>C (p.Cys297Arg)
|
rs1231976944
|
|
NM_138694.4(PKHD1):c.8905C>T (p.Leu2969=)
|
rs1417169945
|
|
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs)
|
rs1473686155
|
|
NM_138694.4(PKHD1):c.8912del (p.Val2971fs)
|
rs2151011017
|
|
NM_138694.4(PKHD1):c.8916G>A (p.Gly2972=)
|
|
|
NM_138694.4(PKHD1):c.8916dup (p.Ser2973fs)
|
|
|
NM_138694.4(PKHD1):c.8919C>G (p.Ser2973=)
|
|
|
NM_138694.4(PKHD1):c.8935C>A (p.Arg2979=)
|
rs765020336
|
|
NM_138694.4(PKHD1):c.893A>G (p.Asp298Gly)
|
|
|
NM_138694.4(PKHD1):c.8940A>G (p.Glu2980=)
|
rs1582468826
|
|
NM_138694.4(PKHD1):c.8950+17G>C
|
|
|
NM_138694.4(PKHD1):c.8950+1G>A
|
|
|
NM_138694.4(PKHD1):c.8950+1G>T
|
rs1351918391
|
|
NM_138694.4(PKHD1):c.8950+20A>G
|
|
|
NM_138694.4(PKHD1):c.8950+9A>C
|
rs1390628353
|
|
NM_138694.4(PKHD1):c.8951-12A>G
|
|
|
NM_138694.4(PKHD1):c.8951-12A>T
|
|
|
NM_138694.4(PKHD1):c.8951-17C>T
|
|
|
NM_138694.4(PKHD1):c.8951-4A>G
|
|
|
NM_138694.4(PKHD1):c.8951-4A>T
|
rs2150987649
|
|
NM_138694.4(PKHD1):c.8951-5del
|
rs2150987670
|
|
NM_138694.4(PKHD1):c.8951-7T>G
|
rs760257250
|
|
NM_138694.4(PKHD1):c.8951-9T>G
|
rs2150987691
|
|
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala)
|
rs1057516201
|
|
NM_138694.4(PKHD1):c.8955C>A (p.Val2985=)
|
rs1324020809
|
|
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs)
|
rs1057517387
|
|
NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His)
|
|
|
NM_138694.4(PKHD1):c.8964T>G (p.Leu2988=)
|
rs2150987538
|
|
NM_138694.4(PKHD1):c.8970T>C (p.Asn2990=)
|
rs1293255485
|
|
NM_138694.4(PKHD1):c.897T>C (p.Ile299=)
|
|
|
NM_138694.4(PKHD1):c.8980C>T (p.Gln2994Ter)
|
rs2150987482
|
|
NM_138694.4(PKHD1):c.8989G>A (p.Gly2997Arg)
|
rs886061614
|
|
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
|
rs1582053820
|
|
NM_138694.4(PKHD1):c.9000G>A (p.Leu3000=)
|
|
|
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)
|
rs775628123
|
|
NM_138694.4(PKHD1):c.9003C>T (p.Tyr3001=)
|
rs775628123
|
|
NM_138694.4(PKHD1):c.9027G>A (p.Val3009=)
|
|
|
NM_138694.4(PKHD1):c.9027G>T (p.Val3009=)
|
rs1785566962
|
|
NM_138694.4(PKHD1):c.9033A>G (p.Ala3011=)
|
|
|
NM_138694.4(PKHD1):c.9038_9039delinsAA (p.Ser3013Ter)
|
|
|
NM_138694.4(PKHD1):c.9044T>G (p.Ile3015Ser)
|
rs2150987139
|
|
NM_138694.4(PKHD1):c.904G>A (p.Val302Met)
|
rs779418460
|
|
NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe)
|
rs137852945
|
|
NM_138694.4(PKHD1):c.9058C>T (p.Leu3020=)
|
rs779074962
|
|
NM_138694.4(PKHD1):c.9060G>A (p.Leu3020=)
|
rs2150987070
|
|
NM_138694.4(PKHD1):c.9066G>A (p.Gln3022=)
|
rs2150987009
|
|
NM_138694.4(PKHD1):c.9069C>T (p.Ser3023=)
|
rs1785560641
|
|
NM_138694.4(PKHD1):c.9070dup (p.Cys3024fs)
|
rs2150986957
|
|
NM_138694.4(PKHD1):c.9072T>C (p.Cys3024=)
|
|
|
NM_138694.4(PKHD1):c.9081_9082dup (p.Ile3028fs)
|
|
|
NM_138694.4(PKHD1):c.9090A>G (p.Ala3030=)
|
rs2150986813
|
|
NM_138694.4(PKHD1):c.9096C>A (p.Ala3032=)
|
|
|
NM_138694.4(PKHD1):c.9096C>T (p.Ala3032=)
|
|
|
NM_138694.4(PKHD1):c.90T>C (p.Gly30=)
|
rs1812294982
|
|
NM_138694.4(PKHD1):c.9112T>C (p.Leu3038=)
|
|
|
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer)
|
rs1554218926
|
|
NM_138694.4(PKHD1):c.9141T>C (p.Ala3047=)
|
rs2150986490
|
|
NM_138694.4(PKHD1):c.9144C>G (p.Gly3048=)
|
rs772138645
|
|
NM_138694.4(PKHD1):c.9149del (p.Gly3050fs)
|
rs2150986366
|
|
NM_138694.4(PKHD1):c.9153A>C (p.Ile3051=)
|
|
|
NM_138694.4(PKHD1):c.9154G>C (p.Asp3052His)
|
rs765526
|
|
NM_138694.4(PKHD1):c.9159A>G (p.Leu3053=)
|
rs370346770
|
|
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys)
|
rs1060501355
|
|
NM_138694.4(PKHD1):c.9168G>A (p.Gln3056=)
|
|
|
NM_138694.4(PKHD1):c.9171C>T (p.Ala3057=)
|
|
|
NM_138694.4(PKHD1):c.9177T>C (p.Thr3059=)
|
|
|
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs)
|
rs1582441668
|
|
NM_138694.4(PKHD1):c.9183T>C (p.Thr3061=)
|
rs2150986075
|
|
NM_138694.4(PKHD1):c.9183_9186delinsATTAGTGACATCAG (p.Asn3062fs)
|
rs2150986043
|
|
NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr)
|
|
|
NM_138694.4(PKHD1):c.9189C>T (p.Asn3063=)
|
|
|
NM_138694.4(PKHD1):c.9192T>C (p.Leu3064=)
|
rs781061156
|
|
NM_138694.4(PKHD1):c.9201G>A (p.Leu3067=)
|
|
|
NM_138694.4(PKHD1):c.9207A>C (p.Thr3069=)
|
|
|
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)
|
rs1288017883
|
|
NM_138694.4(PKHD1):c.9210_9223del (p.Gln3070fs)
|
rs2150985744
|
|
NM_138694.4(PKHD1):c.9211C>G (p.Pro3071Ala)
|
rs1785533041
|
|
NM_138694.4(PKHD1):c.9216G>T (p.Ala3072=)
|
|
|
NM_138694.4(PKHD1):c.9219G>A (p.Trp3073Ter)
|
rs761075492
|
|
NM_138694.4(PKHD1):c.924G>A (p.Glu308=)
|
rs1181071222
|
|
NM_138694.4(PKHD1):c.9253C>G (p.Gln3085Glu)
|
rs1164973591
|
|
NM_138694.4(PKHD1):c.9267C>T (p.Ile3089=)
|
rs1785519804
|
|
NM_138694.4(PKHD1):c.9268A>G (p.Asn3090Asp)
|
rs1785519408
|
|
NM_138694.4(PKHD1):c.9269A>G (p.Asn3090Ser)
|
rs1785518946
|
|
NM_138694.4(PKHD1):c.9273C>A (p.Leu3091=)
|
|
|
NM_138694.4(PKHD1):c.9276T>C (p.His3092=)
|
|
|
NM_138694.4(PKHD1):c.9285T>A (p.Val3095=)
|
rs1785514970
|
|
NM_138694.4(PKHD1):c.9285T>C (p.Val3095=)
|
|
|
NM_138694.4(PKHD1):c.9291A>G (p.Ala3097=)
|
|
|
NM_138694.4(PKHD1):c.9294A>C (p.Gly3098=)
|
|
|
NM_138694.4(PKHD1):c.9299A>G (p.Glu3100Gly)
|
rs749998868
|
|
NM_138694.4(PKHD1):c.9302_9303del (p.Arg3101fs)
|
|
|
NM_138694.4(PKHD1):c.9303A>G (p.Arg3101=)
|
rs1785510980
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9315C>T (p.His3105=)
|
|
|
NM_138694.4(PKHD1):c.9318C>T (p.Ile3106=)
|
|
|
NM_138694.4(PKHD1):c.9319C>A (p.Arg3107=)
|
|
|
NM_138694.4(PKHD1):c.9327C>G (p.His3109Gln)
|
rs1160858819
|
|
NM_138694.4(PKHD1):c.9329dup (p.Cys3111fs)
|
|
|
NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile)
|
|
|
NM_138694.4(PKHD1):c.9339T>A (p.Ser3113=)
|
|
|
NM_138694.4(PKHD1):c.9348del (p.Leu3117fs)
|
rs1785501068
|
|
NM_138694.4(PKHD1):c.934C>A (p.Arg312=)
|
rs372340268
|
|
NM_138694.4(PKHD1):c.9368C>T (p.Ala3123Val)
|
|
|
NM_138694.4(PKHD1):c.9369G>A (p.Ala3123=)
|
rs745523374
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
NM_138694.4(PKHD1):c.936G>T (p.Arg312=)
|
rs755140707
|
|
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)
|
rs1554218666
|
|
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro)
|
rs373241537
|
|
NM_138694.4(PKHD1):c.9375A>G (p.Ser3125=)
|
rs2150984388
|
|
NM_138694.4(PKHD1):c.9384T>C (p.His3128=)
|
rs2150984309
|
|
NM_138694.4(PKHD1):c.9386del (p.Gly3129fs)
|
rs1785493309
|
|
NM_138694.4(PKHD1):c.9396C>G (p.Leu3132=)
|
rs2150984241
|
|
NM_138694.4(PKHD1):c.9396C>T (p.Leu3132=)
|
|
|
NM_138694.4(PKHD1):c.939T>G (p.Ala313=)
|
rs1399301994
|
|
NM_138694.4(PKHD1):c.9400A>G (p.Lys3134Glu)
|
rs2150984204
|
|
NM_138694.4(PKHD1):c.9408T>C (p.Ser3136=)
|
rs1785490409
|
|
NM_138694.4(PKHD1):c.9411A>T (p.Gly3137=)
|
rs755275674
|
|
NM_138694.4(PKHD1):c.9429A>G (p.Arg3143=)
|
|
|
NM_138694.4(PKHD1):c.9432C>A (p.Ile3144=)
|
|
|
NM_138694.4(PKHD1):c.9448T>C (p.Phe3150Leu)
|
rs2150983802
|
|
NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn)
|
rs2150983772
|
|
NM_138694.4(PKHD1):c.9462C>T (p.Asp3154=)
|
rs1173000316
|
|
NM_138694.4(PKHD1):c.9469_9470delinsAA (p.Ala3157Asn)
|
rs878855204
|
|
NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs)
|
rs1057516413
|
|
NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr)
|
|
|
NM_138694.4(PKHD1):c.9507C>T (p.Asn3169=)
|
rs1785472118
|
|
NM_138694.4(PKHD1):c.9513T>C (p.Thr3171=)
|
|
|
NM_138694.4(PKHD1):c.951T>C (p.Asp317=)
|
rs1809305983
|
|
NM_138694.4(PKHD1):c.9522C>T (p.Asp3174=)
|
|
|
NM_138694.4(PKHD1):c.9529A>G (p.Ile3177Val)
|
|
|
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs)
|
rs1554218519
|
|
NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys)
|
|
|
NM_138694.4(PKHD1):c.9537T>C (p.Leu3179=)
|
rs2150983195
|
|
NM_138694.4(PKHD1):c.9543A>G (p.Ala3181=)
|
rs2150983169
|
|
NM_138694.4(PKHD1):c.9544G>A (p.Val3182Ile)
|
rs575058604
|
|
NM_138694.4(PKHD1):c.9546A>G (p.Val3182=)
|
rs758820099
|
|
NM_138694.4(PKHD1):c.9549G>A (p.Val3183=)
|
rs750639527
|
|
NM_138694.4(PKHD1):c.954G>A (p.Val318=)
|
|
|
NM_138694.4(PKHD1):c.954del (p.Arg319fs)
|
rs1809305398
|
|
NM_138694.4(PKHD1):c.9552T>G (p.Tyr3184Ter)
|
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9567A>T (p.Pro3189=)
|
|
|
NM_138694.4(PKHD1):c.957G>A (p.Arg319=)
|
|
|
NM_138694.4(PKHD1):c.9582A>G (p.Lys3194=)
|
|
|
NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del)
|
rs1554218479
|
|
NM_138694.4(PKHD1):c.9585A>C (p.Lys3195Asn)
|
rs1417442108
|
|
NM_138694.4(PKHD1):c.9588G>A (p.Val3196=)
|
rs2150982682
|
|
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter)
|
rs2150982651
|
|
NM_138694.4(PKHD1):c.9598C>T (p.Leu3200Phe)
|
|
|
NM_138694.4(PKHD1):c.9603G>A (p.Arg3201=)
|
rs940043076
|
|
NM_138694.4(PKHD1):c.9613A>C (p.Ile3205Leu)
|
|
|
NM_138694.4(PKHD1):c.9615del (p.Ile3205fs)
|
|
|
NM_138694.4(PKHD1):c.961A>G (p.Thr321Ala)
|
rs2128221798
|
|
NM_138694.4(PKHD1):c.9621C>T (p.Ala3207=)
|
rs1785450695
|
|
NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg)
|
|
|
NM_138694.4(PKHD1):c.9633T>C (p.Ser3211=)
|
rs2150982230
|
|
NM_138694.4(PKHD1):c.9636T>C (p.Phe3212=)
|
rs1269059408
|
|
NM_138694.4(PKHD1):c.9651C>T (p.Asp3217=)
|
|
|
NM_138694.4(PKHD1):c.9663G>T (p.Pro3221=)
|
rs371508721
|
|
NM_138694.4(PKHD1):c.9669A>C (p.Ser3223=)
|
rs2150981986
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
NM_138694.4(PKHD1):c.9696T>G (p.Ala3232=)
|
|
|
NM_138694.4(PKHD1):c.9699del (p.Ser3234fs)
|
rs1785437689
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
NM_138694.4(PKHD1):c.9711A>G (p.Arg3237=)
|
rs2150981690
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs)
|
rs1582436832
|
|
NM_138694.4(PKHD1):c.9725G>C (p.Gly3242Ala)
|
rs886044327
|
|
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)
|
rs1562221540
|
|
NM_138694.4(PKHD1):c.9735G>A (p.Trp3245Ter)
|
|
|
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs)
|
rs751754608
|
|
NM_138694.4(PKHD1):c.9744C>T (p.Phe3248=)
|
|
|
NM_138694.4(PKHD1):c.9747C>A (p.Thr3249=)
|
|
|
NM_138694.4(PKHD1):c.9756A>G (p.Pro3252=)
|
|
|
NM_138694.4(PKHD1):c.976+13C>T
|
|
|
NM_138694.4(PKHD1):c.976+14C>T
|
|
|
NM_138694.4(PKHD1):c.976+18G>A
|
|
|
NM_138694.4(PKHD1):c.976+18G>T
|
|
|
NM_138694.4(PKHD1):c.976+19C>T
|
|
|
NM_138694.4(PKHD1):c.976+9G>A
|
|
|
NM_138694.4(PKHD1):c.977-11A>C
|
|
|
NM_138694.4(PKHD1):c.977-11A>G
|
|
|
NM_138694.4(PKHD1):c.977-17A>G
|
|
|
NM_138694.4(PKHD1):c.977-18G>A
|
|
|
NM_138694.4(PKHD1):c.977-18G>C
|
|
|
NM_138694.4(PKHD1):c.977-19C>T
|
|
|
NM_138694.4(PKHD1):c.977-4dup
|
|
|
NM_138694.4(PKHD1):c.9774G>A (p.Glu3258=)
|
|
|
NM_138694.4(PKHD1):c.9777A>G (p.Pro3259=)
|
rs1008018928
|
|
NM_138694.4(PKHD1):c.9777A>T (p.Pro3259=)
|
rs1008018928
|
|
NM_138694.4(PKHD1):c.9779G>A (p.Trp3260Ter)
|
|
|
NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter)
|
|
|
NM_138694.4(PKHD1):c.9783C>T (p.His3261=)
|
|
|
NM_138694.4(PKHD1):c.9789G>A (p.Val3263=)
|
rs2150980928
|
|
NM_138694.4(PKHD1):c.9801T>C (p.His3267=)
|
|
|
NM_138694.4(PKHD1):c.9804A>T (p.Ser3268=)
|
|
|
NM_138694.4(PKHD1):c.9817A>C (p.Met3273Leu)
|
rs1562221107
|
|
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)
|
|
|
NM_138694.4(PKHD1):c.9829+13A>G
|
|
|
NM_138694.4(PKHD1):c.9829+15T>C
|
|
|
NM_138694.4(PKHD1):c.9829+1G>A
|
rs1273202231
|
|
NM_138694.4(PKHD1):c.9829+1dup
|
|
|
NM_138694.4(PKHD1):c.9829+20C>A
|
|
|
NM_138694.4(PKHD1):c.9829+20C>T
|
|
|
NM_138694.4(PKHD1):c.9829+8G>A
|
|
|
NM_138694.4(PKHD1):c.9829+9T>C
|
|
|
NM_138694.4(PKHD1):c.982C>A (p.Arg328=)
|
|
|
NM_138694.4(PKHD1):c.9830-15T>C
|
|
|
NM_138694.4(PKHD1):c.9830-18A>G
|
|
|
NM_138694.4(PKHD1):c.9830-2A>C
|
rs890681861
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
NM_138694.4(PKHD1):c.9834T>C (p.Val3278=)
|
rs2150975041
|
|
NM_138694.4(PKHD1):c.9845del (p.Ser3282fs)
|
|
|
NM_138694.4(PKHD1):c.9846T>C (p.Ser3282=)
|
rs1354756451
|
|
NM_138694.4(PKHD1):c.9849T>C (p.Phe3283=)
|
rs773647607
|
|
NM_138694.4(PKHD1):c.9852G>A (p.Val3284=)
|
|
|
NM_138694.4(PKHD1):c.9856A>T (p.Ser3286Cys)
|
rs770299635
|
|
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter)
|
rs1057517357
|
|
NM_138694.4(PKHD1):c.9867C>T (p.Ser3289=)
|
rs747103964
|
|
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn)
|
rs370659581
|
|
NM_138694.4(PKHD1):c.9874C>T (p.Leu3292=)
|
rs2150974520
|
|
NM_138694.4(PKHD1):c.9876G>C (p.Leu3292=)
|
|
|
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn)
|
rs1060501356
|
|
NM_138694.4(PKHD1):c.987G>C (p.Gly329=)
|
rs2128219124
|
|
NM_138694.4(PKHD1):c.9894A>C (p.Pro3298=)
|
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs)
|
rs1785246943
|
|
NM_138694.4(PKHD1):c.9921C>T (p.His3307=)
|
rs2150974061
|
|
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)
|
rs1307732644
|
|
NM_138694.4(PKHD1):c.9927A>C (p.Ile3309=)
|
|
|
NM_138694.4(PKHD1):c.9930A>G (p.Thr3310=)
|
|
|
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
|
|
|
NM_138694.4(PKHD1):c.993T>G (p.Leu331=)
|
rs2128219118
|
|
NM_138694.4(PKHD1):c.9942C>G (p.Thr3314=)
|
rs773916989
|
|
NM_138694.4(PKHD1):c.9945del (p.Met3316fs)
|
|
|
NM_138694.4(PKHD1):c.9956_9957del (p.Ile3319fs)
|
|
|
NM_138694.4(PKHD1):c.9963T>C (p.Asp3321=)
|
|
|
NM_138694.4(PKHD1):c.9973T>C (p.Phe3325Leu)
|
rs199924729
|
|
NM_138694.4(PKHD1):c.9987A>C (p.Ser3329=)
|
rs760987550
|
|
NM_138694.4(PKHD1):c.9987A>G (p.Ser3329=)
|
|
|
NM_138694.4(PKHD1):c.9998+10T>C
|
rs2150973480
|
|
NM_138694.4(PKHD1):c.9998+12A>G
|
|
|
NM_138694.4(PKHD1):c.9998+13G>C
|
|
|
NM_138694.4(PKHD1):c.9998+1G>A
|
|
|
NM_138694.4(PKHD1):c.9998+1G>T
|
rs1554217691
|
|
NM_138694.4(PKHD1):c.9998+9T>G
|
|
|
NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys)
|
rs1057524563
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
|
NM_138694.4(PKHD1):c.9999-13A>G
|
rs2150963083
|
|
NM_138694.4(PKHD1):c.9999-18T>A
|
|
|
NM_138694.4(PKHD1):c.9999-1G>A
|
rs2150963039
|
|
NM_138694.4(PKHD1):c.9999-7T>G
|
|
|
NM_138694.4(PKHD1):c.999A>G (p.Glu333=)
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rs1296198049
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NM_138694.4(PKHD1):c.99A>G (p.Ala33=)
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NM_138694.4(PKHD1):c.9C>G (p.Ala3=)
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NM_138694.4(PKHD1):c.9C>T (p.Ala3=)
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