NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)
|
rs1896976
|
0.96234
|
NM_138694.4(PKHD1):c.2279+57A>G
|
rs9395759
|
0.96175
|
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)
|
rs2435322
|
0.95778
|
NM_138694.4(PKHD1):c.8798-19A>C
|
rs1326605
|
0.73187
|
NM_138694.4(PKHD1):c.5909-46A>G
|
rs1266889
|
0.70194
|
NM_138694.4(PKHD1):c.10156+22412C>T
|
rs9349593
|
0.65024
|
NM_138694.4(PKHD1):c.8108-217C>T
|
rs9474105
|
0.60763
|
NM_138694.4(PKHD1):c.8303-65C>A
|
rs7765455
|
0.57777
|
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.8302+89A>T
|
rs1571083
|
0.45590
|
NM_138694.4(PKHD1):c.8173+144G>A
|
rs9474104
|
0.45513
|
NM_138694.4(PKHD1):c.282-41A>G
|
rs1892274
|
0.43840
|
NM_138694.4(PKHD1):c.-84-47T>C
|
rs9370097
|
0.43816
|
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys)
|
rs9370096
|
0.41404
|
NM_138694.4(PKHD1):c.667+57G>A
|
rs17576809
|
0.41111
|
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)
|
rs9296669
|
0.41087
|
NM_138694.4(PKHD1):c.2407+50C>T
|
rs10948667
|
0.41035
|
NM_138694.4(PKHD1):c.602+67A>G
|
rs3936986
|
0.41008
|
NM_138694.4(PKHD1):c.7215+102T>A
|
rs4711985
|
0.39765
|
NM_138694.4(PKHD1):c.7734-4T>C
|
rs7452724
|
0.39369
|
NM_138694.4(PKHD1):c.7733+63C>T
|
rs9382043
|
0.39367
|
NM_138694.4(PKHD1):c.7733+33C>T
|
rs9382044
|
0.39361
|
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=)
|
rs9349603
|
0.39323
|
NM_138694.4(PKHD1):c.8441-32G>C
|
rs3920621
|
0.33143
|
NM_138694.4(PKHD1):c.9998+49A>G
|
rs2397060
|
0.32325
|
NM_138694.4(PKHD1):c.9998+175T>C
|
rs35999523
|
0.30649
|
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)
|
rs765525
|
0.30589
|
NM_138694.4(PKHD1):c.8643-72C>T
|
rs9370049
|
0.30583
|
NM_138694.4(PKHD1):c.234C>T (p.Asp78=)
|
rs9474143
|
0.29769
|
NM_138694.4(PKHD1):c.527+19T>C
|
rs9474140
|
0.27509
|
NM_138694.4(PKHD1):c.8441-68T>C
|
rs7775050
|
0.19022
|
NM_138694.4(PKHD1):c.6490+62A>G
|
rs12196767
|
0.14660
|
NM_138694.4(PKHD1):c.11786-30C>T
|
rs9395699
|
0.14058
|
NM_138694.4(PKHD1):c.1234-10T>A
|
rs4715272
|
0.12902
|
NM_138694.4(PKHD1):c.8173+101A>T
|
rs55777546
|
0.09629
|
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.8108-64G>A
|
rs12523926
|
0.05318
|
NM_138694.4(PKHD1):c.527+51G>T
|
rs62406055
|
0.05032
|
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=)
|
rs62406036
|
0.05014
|
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)
|
rs62406032
|
0.05010
|
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)
|
rs1266923
|
0.03202
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_138694.4(PKHD1):c.1694-32C>G
|
rs12196276
|
0.02096
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
NM_138694.4(PKHD1):c.8174-18T>A
|
rs111383080
|
0.01154
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)
|
rs140791735
|
0.00769
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
NM_138694.4(PKHD1):c.3097+15G>T
|
rs376878007
|
0.00093
|
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.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)
|
rs142896856
|
0.00061
|
NM_138694.4(PKHD1):c.11311-19C>G
|
rs181140024
|
0.00052
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_138694.4(PKHD1):c.11310+13A>G
|
rs191991777
|
0.00043
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
NM_138694.4(PKHD1):c.8174-19A>T
|
rs758233215
|
0.00028
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
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.2821+10G>A
|
rs367619854
|
0.00020
|
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu)
|
rs139838478
|
0.00020
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
0.00020
|
NM_138694.4(PKHD1):c.1603-19T>A
|
rs201996881
|
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.2532C>T (p.Tyr844=)
|
rs150202544
|
0.00017
|
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln)
|
rs139063552
|
0.00017
|
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.3048T>C (p.Asn1016=)
|
rs138989655
|
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.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.5692A>G (p.Asn1898Asp)
|
rs756825030
|
0.00014
|
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.3904G>A (p.Val1302Ile)
|
rs141972092
|
0.00012
|
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.6907A>T (p.Ile2303Phe)
|
rs751084512
|
0.00011
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00011
|
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg)
|
rs368351830
|
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.934C>T (p.Arg312Trp)
|
rs372340268
|
0.00010
|
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.1565C>T (p.Ser522Phe)
|
rs746561147
|
0.00009
|
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg)
|
rs369932370
|
0.00009
|
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln)
|
rs370557603
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn)
|
rs760056303
|
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.11007G>A (p.Ser3669=)
|
rs142855690
|
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.5989C>A (p.Arg1997=)
|
rs369801937
|
0.00007
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr)
|
rs776589273
|
0.00006
|
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg)
|
rs761871204
|
0.00006
|
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro)
|
rs139442289
|
0.00006
|
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr)
|
rs373896034
|
0.00006
|
NM_138694.4(PKHD1):c.11506+14G>C
|
rs371687822
|
0.00006
|
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=)
|
rs1443176251
|
0.00006
|
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)
|
rs200278368
|
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.7567A>G (p.Ile2523Val)
|
rs146962673
|
0.00006
|
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)
|
rs374869252
|
0.00006
|
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
|
rs200432861
|
0.00006
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
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.3183C>T (p.Val1061=)
|
rs759939735
|
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.5687C>T (p.Thr1896Met)
|
rs140996978
|
0.00005
|
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile)
|
rs142552070
|
0.00005
|
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met)
|
rs776068047
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
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.10452T>G (p.Phe3484Leu)
|
rs545701882
|
0.00004
|
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys)
|
rs201534300
|
0.00004
|
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=)
|
rs754613918
|
0.00004
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
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.1691G>A (p.Arg564Gln)
|
rs757182803
|
0.00004
|
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys)
|
rs199846197
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met)
|
rs564240823
|
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.3089C>T (p.Ala1030Val)
|
rs777976050
|
0.00004
|
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His)
|
rs201123815
|
0.00004
|
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile)
|
rs147035447
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
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.5750A>G (p.Gln1917Arg)
|
rs1412045164
|
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.6557G>C (p.Arg2186Thr)
|
rs375436864
|
0.00004
|
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=)
|
rs747038764
|
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.8286C>T (p.Asp2762=)
|
rs749740610
|
0.00004
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
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.1123C>T (p.Arg375Trp)
|
rs376040501
|
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.11883A>G (p.Arg3961=)
|
rs1165946143
|
0.00003
|
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg)
|
rs755769277
|
0.00003
|
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=)
|
rs1252381398
|
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.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.2539G>A (p.Val847Met)
|
rs778864835
|
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.5414A>G (p.Glu1805Gly)
|
rs377674026
|
0.00003
|
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys)
|
rs151108325
|
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.7726A>G (p.Ile2576Val)
|
rs565528098
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=)
|
rs781630151
|
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.10152C>T (p.Asn3384=)
|
rs774349380
|
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.108G>A (p.Thr36=)
|
rs779123303
|
0.00002
|
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=)
|
rs1268794606
|
0.00002
|
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp)
|
rs748017071
|
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.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=)
|
rs140920157
|
0.00002
|
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp)
|
rs769143280
|
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.2989A>G (p.Met997Val)
|
rs979700489
|
0.00002
|
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val)
|
rs774570785
|
0.00002
|
NM_138694.4(PKHD1):c.3629-16C>T
|
rs776260404
|
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.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
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.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val)
|
rs755286726
|
0.00002
|
NM_138694.4(PKHD1):c.6996+5G>A
|
rs1232218253
|
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.8156T>C (p.Met2719Thr)
|
rs368696503
|
0.00002
|
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val)
|
rs762313489
|
0.00002
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp)
|
rs757650951
|
0.00002
|
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile)
|
rs749794881
|
0.00002
|
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=)
|
rs200466480
|
0.00002
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.10129G>A (p.Glu3377Lys)
|
rs754382673
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=)
|
rs375770253
|
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.11000G>C (p.Gly3667Ala)
|
rs201692162
|
0.00001
|
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=)
|
rs758082610
|
0.00001
|
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys)
|
rs1206336265
|
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.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.11398+2T>C
|
rs754038777
|
0.00001
|
NM_138694.4(PKHD1):c.11399-1G>A
|
rs1183281205
|
0.00001
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)
|
rs747170980
|
0.00001
|
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)
|
rs1295732689
|
0.00001
|
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
|
rs761704401
|
0.00001
|
NM_138694.4(PKHD1):c.11786-3C>A
|
rs746467881
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
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.12163G>A (p.Gly4055Arg)
|
rs778545068
|
0.00001
|
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=)
|
rs757125119
|
0.00001
|
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys)
|
rs1347911533
|
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.1510C>T (p.Gln504Ter)
|
rs759322460
|
0.00001
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
NM_138694.4(PKHD1):c.1917A>T (p.Val639=)
|
rs1192699542
|
0.00001
|
NM_138694.4(PKHD1):c.193G>A (p.Val65Met)
|
rs749853418
|
0.00001
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
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.2090C>T (p.Thr697Met)
|
rs377415956
|
0.00001
|
NM_138694.4(PKHD1):c.210C>T (p.Pro70=)
|
rs372103359
|
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.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2280-4A>T
|
rs549804372
|
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.2518C>G (p.Leu840Val)
|
rs546401927
|
0.00001
|
NM_138694.4(PKHD1):c.2593-10A>G
|
rs1050450962
|
0.00001
|
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
|
rs752646435
|
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.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2821+2T>C
|
rs1394431107
|
0.00001
|
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met)
|
rs530600526
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln)
|
rs899785229
|
0.00001
|
NM_138694.4(PKHD1):c.3229-7T>G
|
rs780401384
|
0.00001
|
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr)
|
rs78624439
|
0.00001
|
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)
|
rs1554200780
|
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.370C>T (p.Arg124Ter)
|
rs727504096
|
0.00001
|
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln)
|
rs764940559
|
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.3779C>T (p.Ala1260Val)
|
rs112182862
|
0.00001
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg)
|
rs759930967
|
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.474G>A (p.Trp158Ter)
|
rs1350620976
|
0.00001
|
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=)
|
rs556583531
|
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.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.5541C>G (p.Leu1847=)
|
rs1355951747
|
0.00001
|
NM_138694.4(PKHD1):c.56G>A (p.Arg19His)
|
rs1375765328
|
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.603-2A>G
|
rs757521428
|
0.00001
|
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
0.00001
|
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala)
|
rs1283289447
|
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.6634G>A (p.Ala2212Thr)
|
rs1376315113
|
0.00001
|
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
|
rs749454235
|
0.00001
|
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=)
|
rs1315333212
|
0.00001
|
NM_138694.4(PKHD1):c.6808+1G>T
|
rs1217968843
|
0.00001
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
0.00001
|
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val)
|
rs748865599
|
0.00001
|
NM_138694.4(PKHD1):c.711_714del (p.Met238fs)
|
rs786204588
|
0.00001
|
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)
|
rs794727680
|
0.00001
|
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)
|
rs398124492
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met)
|
rs201173272
|
0.00001
|
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly)
|
rs747117144
|
0.00001
|
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe)
|
rs202008567
|
0.00001
|
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=)
|
rs746499996
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_138694.4(PKHD1):c.7940C>T (p.Pro2647Leu)
|
rs1448998543
|
0.00001
|
NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu)
|
rs776654447
|
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.8084A>G (p.Gln2695Arg)
|
rs1185197350
|
0.00001
|
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp)
|
rs754533251
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
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.8382C>G (p.Asp2794Glu)
|
rs746096431
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
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.8629del (p.Ser2877fs)
|
rs779168950
|
0.00001
|
NM_138694.4(PKHD1):c.8642+1G>A
|
rs1485161784
|
0.00001
|
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr)
|
rs193185189
|
0.00001
|
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=)
|
rs1418482955
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
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.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu)
|
rs141912421
|
0.00001
|
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)
|
rs367678592
|
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.9296C>A (p.Ser3099Ter)
|
rs757946548
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)
|
rs957419550
|
0.00001
|
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
|
rs1242089464
|
0.00001
|
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter)
|
rs758732107
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
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.9907del (p.Ser3303fs)
|
rs1785247939
|
0.00001
|
NM_138694.3:c.(?_5909)_(12225_?)del
|
|
|
NM_138694.4(PKHD1):c.10073A>G (p.Asp3358Gly)
|
|
|
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)
|
|
|
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)
|
rs1554216538
|
|
NM_138694.4(PKHD1):c.100G>A (p.Gly34Arg)
|
rs2128244638
|
|
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro)
|
rs2150962340
|
|
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.10124_10125del (p.Glu3375fs)
|
|
|
NM_138694.4(PKHD1):c.10137_10152del (p.Ala3380fs)
|
|
|
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His)
|
rs752841263
|
|
NM_138694.4(PKHD1):c.10160C>T (p.Thr3387Ile)
|
rs2150418782
|
|
NM_138694.4(PKHD1):c.10168G>T (p.Glu3390Ter)
|
|
|
NM_138694.4(PKHD1):c.10180T>G (p.Cys3394Gly)
|
|
|
NM_138694.4(PKHD1):c.10265G>A (p.Trp3422Ter)
|
|
|
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
|
|
|
NM_138694.4(PKHD1):c.10384_10385del (p.Ile3462fs)
|
|
|
NM_138694.4(PKHD1):c.10399C>T (p.Gln3467Ter)
|
|
|
NM_138694.4(PKHD1):c.10436A>G (p.Gln3479Arg)
|
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10462A>T (p.Asn3488Tyr)
|
|
|
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser)
|
rs1581894231
|
|
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro)
|
rs1554183514
|
|
NM_138694.4(PKHD1):c.1048_1049dup (p.Arg351fs)
|
|
|
NM_138694.4(PKHD1):c.1057C>T (p.Gln353Ter)
|
|
|
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=)
|
rs2150414839
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
NM_138694.4(PKHD1):c.10640T>C (p.Leu3547Pro)
|
rs2150414704
|
|
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
|
|
|
NM_138694.4(PKHD1):c.10688T>A (p.Leu3563Ter)
|
|
|
NM_138694.4(PKHD1):c.10722dup (p.Gly3575fs)
|
|
|
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter)
|
rs2150413999
|
|
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
|
rs148300854
|
|
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.10845_10846dup (p.Ala3616fs)
|
|
|
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)
|
rs1554183240
|
|
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)
|
rs1554183235
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)
|
rs573293029
|
|
NM_138694.4(PKHD1):c.10932G>T (p.Met3644Ile)
|
|
|
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs)
|
rs765390756
|
|
NM_138694.4(PKHD1):c.10957_10958insG (p.Met3653fs)
|
rs1772389754
|
|
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)
|
rs1057517047
|
|
NM_138694.4(PKHD1):c.10978A>T (p.Lys3660Ter)
|
|
|
NM_138694.4(PKHD1):c.11026G>T (p.Gly3676Ter)
|
|
|
NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=)
|
rs1204544455
|
|
NM_138694.4(PKHD1):c.11059C>T (p.Gln3687Ter)
|
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.11075G>A (p.Arg3692Gln)
|
|
|
NM_138694.4(PKHD1):c.11092C>T (p.Gln3698Ter)
|
|
|
NM_138694.4(PKHD1):c.11151_11154del (p.Ser3718fs)
|
|
|
NM_138694.4(PKHD1):c.1119-2A>G
|
|
|
NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter)
|
rs1020902474
|
|
NM_138694.4(PKHD1):c.11310+1G>C
|
rs1365407882
|
|
NM_138694.4(PKHD1):c.11310+3A>G
|
rs1271798139
|
|
NM_138694.4(PKHD1):c.11312_11324del (p.Asn3771fs)
|
|
|
NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)
|
|
|
NM_138694.4(PKHD1):c.11352G>A (p.Trp3784Ter)
|
|
|
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val)
|
rs1299129734
|
|
NM_138694.4(PKHD1):c.11387C>A (p.Ser3796Ter)
|
|
|
NM_138694.4(PKHD1):c.11395A>T (p.Lys3799Ter)
|
|
|
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter)
|
rs1215290114
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
|
|
|
NM_138694.4(PKHD1):c.1145C>T (p.Ala382Val)
|
|
|
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter)
|
rs2150329160
|
|
NM_138694.4(PKHD1):c.11533C>A (p.Pro3845Thr)
|
|
|
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser)
|
rs548244367
|
|
NM_138694.4(PKHD1):c.11666-2A>G
|
|
|
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)
|
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11770_11771dup (p.Val3925fs)
|
|
|
NM_138694.4(PKHD1):c.11770del (p.Thr3924fs)
|
|
|
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)
|
rs1057517324
|
|
NM_138694.4(PKHD1):c.11785+1_11785+35del
|
rs761547193
|
|
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=)
|
rs779069598
|
|
NM_138694.4(PKHD1):c.11840T>C (p.Met3947Thr)
|
|
|
NM_138694.4(PKHD1):c.1189C>T (p.Gln397Ter)
|
|
|
NM_138694.4(PKHD1):c.11920G>A (p.Gly3974Ser)
|
rs2150241066
|
|
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=)
|
rs2150241037
|
|
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter)
|
|
|
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
|
|
|
NM_138694.4(PKHD1):c.1216del (p.Glu406fs)
|
|
|
NM_138694.4(PKHD1):c.1227del (p.Thr410fs)
|
rs1808421350
|
|
NM_138694.4(PKHD1):c.1231A>G (p.Lys411Glu)
|
|
|
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
|
|
|
NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter)
|
|
|
NM_138694.4(PKHD1):c.1303G>C (p.Gly435Arg)
|
rs763244593
|
|
NM_138694.4(PKHD1):c.131-2A>T
|
|
|
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=)
|
rs1393535530
|
|
NM_138694.4(PKHD1):c.1396G>A (p.Gly466Arg)
|
|
|
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.1474C>T (p.Gln492Ter)
|
|
|
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup)
|
rs1554217514
|
|
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
|
|
|
NM_138694.4(PKHD1):c.1497del (p.Arg499fs)
|
|
|
NM_138694.4(PKHD1):c.1529del (p.Gly510fs)
|
rs1807855713
|
|
NM_138694.4(PKHD1):c.1597_1598insG (p.His533fs)
|
|
|
NM_138694.4(PKHD1):c.1602+1G>A
|
rs398124476
|
|
NM_138694.4(PKHD1):c.1603-14_1603-13del
|
rs748577508
|
|
NM_138694.4(PKHD1):c.1616T>C (p.Ile539Thr)
|
|
|
NM_138694.4(PKHD1):c.1617del (p.Ile539fs)
|
|
|
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)
|
rs1554216499
|
|
NM_138694.4(PKHD1):c.1625T>A (p.Leu542Ter)
|
|
|
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs)
|
rs777295562
|
|
NM_138694.4(PKHD1):c.1626del (p.Leu542fs)
|
|
|
NM_138694.4(PKHD1):c.1628T>C (p.Leu543Pro)
|
|
|
NM_138694.4(PKHD1):c.1660_1661insA (p.Ser554fs)
|
|
|
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)
|
|
|
NM_138694.4(PKHD1):c.1693+1G>T
|
rs2128209217
|
|
NM_138694.4(PKHD1):c.1693+2T>C
|
|
|
NM_138694.4(PKHD1):c.1700_1704dup (p.Ser569fs)
|
|
|
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
|
|
|
NM_138694.4(PKHD1):c.1747T>A (p.Cys583Ser)
|
|
|
NM_138694.4(PKHD1):c.179_182delinsGACGT (p.Ile60fs)
|
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.1836+1G>A
|
rs780898021
|
|
NM_138694.4(PKHD1):c.1846_1848delinsT (p.Ala616fs)
|
|
|
NM_138694.4(PKHD1):c.1854del (p.Gly619fs)
|
rs1807328785
|
|
NM_138694.4(PKHD1):c.1856del (p.Gly619fs)
|
rs1807328375
|
|
NM_138694.4(PKHD1):c.1867A>T (p.Lys623Ter)
|
|
|
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)
|
rs786204696
|
|
NM_138694.4(PKHD1):c.1900G>A (p.Gly634Ser)
|
|
|
NM_138694.4(PKHD1):c.1910del (p.Asn637fs)
|
|
|
NM_138694.4(PKHD1):c.1954_1957dup (p.Pro653fs)
|
|
|
NM_138694.4(PKHD1):c.1964+2T>C
|
|
|
NM_138694.4(PKHD1):c.1965-1G>T
|
|
|
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter)
|
rs2128203862
|
|
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu)
|
rs144455663
|
|
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg)
|
|
|
NM_138694.4(PKHD1):c.2172del (p.Gly726fs)
|
rs1806601043
|
|
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs)
|
rs2128196889
|
|
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)
|
|
|
NM_138694.4(PKHD1):c.2188delinsTA (p.Glu730Ter)
|
rs2128196788
|
|
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)
|
rs1057516608
|
|
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=)
|
rs373367366
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
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.2280-2A>G
|
rs780675990
|
|
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs)
|
rs1064796287
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2474_2475insTGGC (p.Ser826fs)
|
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|
NM_138694.4(PKHD1):c.2503_2504del (p.Thr835fs)
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|
NM_138694.4(PKHD1):c.2532C>G (p.Tyr844Ter)
|
|
|
NM_138694.4(PKHD1):c.257del (p.Leu86fs)
|
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|
NM_138694.4(PKHD1):c.2592+1G>C
|
rs758812102
|
|
NM_138694.4(PKHD1):c.2648_2649del (p.Val882_Tyr883insTer)
|
|
|
NM_138694.4(PKHD1):c.2664del (p.Gly890fs)
|
rs2128186439
|
|
NM_138694.4(PKHD1):c.2681del (p.Gly894fs)
|
|
|
NM_138694.4(PKHD1):c.2715+1G>A
|
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter)
|
|
|
NM_138694.4(PKHD1):c.2799_2809del (p.His934fs)
|
|
|
NM_138694.4(PKHD1):c.281+1G>A
|
rs1582154630
|
|
NM_138694.4(PKHD1):c.281+2T>G
|
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.282-1G>T
|
|
|
NM_138694.4(PKHD1):c.282-2A>T
|
rs1554227278
|
|
NM_138694.4(PKHD1):c.2822-1G>C
|
rs1554208257
|
|
NM_138694.4(PKHD1):c.2850del (p.Thr951fs)
|
|
|
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.2887C>T (p.Gln963Ter)
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|
NM_138694.4(PKHD1):c.2916_2917insTGCCGTCTTCTGC (p.Val973fs)
|
|
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NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)
|
rs536715802
|
|
NM_138694.4(PKHD1):c.2941_2943delinsCT (p.Val981fs)
|
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr)
|
rs1554208064
|
|
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg)
|
rs794727447
|
|
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)
|
rs2128182593
|
|
NM_138694.4(PKHD1):c.2998A>T (p.Arg1000Ter)
|
|
|
NM_138694.4(PKHD1):c.304G>T (p.Glu102Ter)
|
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|
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
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|
NM_138694.4(PKHD1):c.3062del (p.Leu1021fs)
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|
NM_138694.4(PKHD1):c.3079del (p.Ser1027fs)
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|
NM_138694.4(PKHD1):c.3082A>T (p.Arg1028Ter)
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|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.3140_3141del (p.Val1047fs)
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|
NM_138694.4(PKHD1):c.3165C>G (p.Tyr1055Ter)
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|
NM_138694.4(PKHD1):c.3170G>A (p.Cys1057Tyr)
|
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|
NM_138694.4(PKHD1):c.3192C>A (p.Ser1064Arg)
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|
NM_138694.4(PKHD1):c.3228+1G>T
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3259G>A (p.Val1087Met)
|
rs372422063
|
|
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs)
|
rs774250209
|
|
NM_138694.4(PKHD1):c.3363_3364insATATA (p.Gly1122delinsIleTer)
|
|
|
NM_138694.4(PKHD1):c.3364+1G>T
|
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|
NM_138694.4(PKHD1):c.3365-3C>T
|
rs2128153381
|
|
NM_138694.4(PKHD1):c.3369_3370del (p.Glu1124fs)
|
|
|
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala)
|
rs144365187
|
|
NM_138694.4(PKHD1):c.3404_3413del (p.Asn1135fs)
|
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|
NM_138694.4(PKHD1):c.3421del (p.Val1141fs)
|
|
|
NM_138694.4(PKHD1):c.3497del (p.Pro1166fs)
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|
NM_138694.4(PKHD1):c.349del (p.Ser117fs)
|
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|
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs)
|
rs2128152615
|
|
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu)
|
rs1581827172
|
|
NM_138694.4(PKHD1):c.3548_3557del (p.Ile1183fs)
|
|
|
NM_138694.4(PKHD1):c.3560+1G>T
|
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|
NM_138694.4(PKHD1):c.3561-1G>A
|
rs1802457333
|
|
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
|
|
|
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter)
|
|
|
NM_138694.4(PKHD1):c.3643A>G (p.Ser1215Gly)
|
rs752105357
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3707C>T (p.Ser1236Phe)
|
rs542983527
|
|
NM_138694.4(PKHD1):c.3726_3727del (p.Leu1242fs)
|
|
|
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.3743G>A (p.Trp1248Ter)
|
|
|
NM_138694.4(PKHD1):c.3752_3753insTT (p.Leu1252fs)
|
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3830_3843dup (p.Pro1282fs)
|
|
|
NM_138694.4(PKHD1):c.3864dup (p.Lys1289fs)
|
|
|
NM_138694.4(PKHD1):c.3886_3887del (p.Glu1296fs)
|
|
|
NM_138694.4(PKHD1):c.390+1G>A
|
rs752327566
|
|
NM_138694.4(PKHD1):c.3932_3933del (p.Thr1311fs)
|
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.3946_3947del (p.Ser1316fs)
|
|
|
NM_138694.4(PKHD1):c.4002_4003del (p.Asn1335fs)
|
|
|
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)
|
rs1802073525
|
|
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs)
|
|
|
NM_138694.4(PKHD1):c.4017_4018del (p.Glu1339fs)
|
|
|
NM_138694.4(PKHD1):c.407dup (p.Pro137fs)
|
|
|
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs)
|
rs1581810497
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.4141del (p.Val1381fs)
|
rs778537772
|
|
NM_138694.4(PKHD1):c.4155del (p.Phe1385fs)
|
|
|
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=)
|
rs756553815
|
|
NM_138694.4(PKHD1):c.421del (p.Gln141fs)
|
|
|
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
|
rs1464962854
|
|
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe)
|
rs565836750
|
|
NM_138694.4(PKHD1):c.4274T>G (p.Leu1425Arg)
|
|
|
NM_138694.4(PKHD1):c.4293T>A (p.Cys1431Ter)
|
|
|
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter)
|
rs1811318008
|
|
NM_138694.4(PKHD1):c.4347_4348del (p.Asp1450fs)
|
|
|
NM_138694.4(PKHD1):c.4361del (p.Gly1454fs)
|
|
|
NM_138694.4(PKHD1):c.4414_4418del (p.Cys1472fs)
|
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.4428C>A (p.Cys1476Ter)
|
|
|
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)
|
rs370608473
|
|
NM_138694.4(PKHD1):c.4481del (p.Asn1494fs)
|
rs1801988386
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
|
rs1581806935
|
|
NM_138694.4(PKHD1):c.453del (p.Lys151fs)
|
|
|
NM_138694.4(PKHD1):c.470dup (p.Trp158fs)
|
rs2128233941
|
|
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile)
|
rs932913425
|
|
NM_138694.4(PKHD1):c.514_515delinsT (p.Glu172fs)
|
|
|
NM_138694.4(PKHD1):c.519C>A (p.Tyr173Ter)
|
|
|
NM_138694.4(PKHD1):c.5249del (p.Gly1750fs)
|
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
NM_138694.4(PKHD1):c.528-2A>G
|
|
|
NM_138694.4(PKHD1):c.528-9del
|
rs753686281
|
|
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
|
|
|
NM_138694.4(PKHD1):c.5355_5356del (p.Phe1785fs)
|
|
|
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)
|
|
|
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu)
|
rs1288521396
|
|
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=)
|
rs758616921
|
|
NM_138694.4(PKHD1):c.5380+1G>C
|
|
|
NM_138694.4(PKHD1):c.538_542delinsC (p.Leu180fs)
|
|
|
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter)
|
|
|
NM_138694.4(PKHD1):c.5425T>G (p.Cys1809Gly)
|
rs1800745753
|
|
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr)
|
rs1800745257
|
|
NM_138694.4(PKHD1):c.5476del (p.Ala1826fs)
|
|
|
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter)
|
rs2128231908
|
|
NM_138694.4(PKHD1):c.5480C>T (p.Thr1827Ile)
|
|
|
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser)
|
rs1562140504
|
|
NM_138694.4(PKHD1):c.5600+1G>A
|
rs1581763359
|
|
NM_138694.4(PKHD1):c.5609T>A (p.Leu1870Ter)
|
|
|
NM_138694.4(PKHD1):c.5611G>T (p.Glu1871Ter)
|
|
|
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
|
|
|
NM_138694.4(PKHD1):c.5663_5666del (p.Thr1888fs)
|
|
|
NM_138694.4(PKHD1):c.5699_5706del (p.Pro1900fs)
|
|
|
NM_138694.4(PKHD1):c.5738del (p.Gly1913fs)
|
|
|
NM_138694.4(PKHD1):c.5751+1G>A
|
rs775638588
|
|
NM_138694.4(PKHD1):c.5751+2T>G
|
|
|
NM_138694.4(PKHD1):c.5751+3A>G
|
rs1581726525
|
|
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=)
|
rs398124489
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp)
|
rs543037335
|
|
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
|
|
|
NM_138694.4(PKHD1):c.5786C>G (p.Ser1929Cys)
|
rs1791759592
|
|
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe)
|
rs1791759592
|
|
NM_138694.4(PKHD1):c.5792del (p.Thr1931fs)
|
|
|
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
|
|
|
NM_138694.4(PKHD1):c.5801G>T (p.Trp1934Leu)
|
|
|
NM_138694.4(PKHD1):c.5808_5809del (p.Glu1937fs)
|
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)
|
rs1791737049
|
|
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.5965dup (p.Leu1989fs)
|
|
|
NM_138694.4(PKHD1):c.5977G>T (p.Gly1993Cys)
|
|
|
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr)
|
rs1210348558
|
|
NM_138694.4(PKHD1):c.6007_6008insGTGTGATCTG (p.Lys2003delinsSerValIleTer)
|
|
|
NM_138694.4(PKHD1):c.602+1G>A
|
rs1554223950
|
|
NM_138694.4(PKHD1):c.602+5G>A
|
|
|
NM_138694.4(PKHD1):c.6054C>G (p.Tyr2018Ter)
|
|
|
NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile)
|
|
|
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs)
|
rs2127768101
|
|
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
|
|
|
NM_138694.4(PKHD1):c.6125C>A (p.Ser2042Ter)
|
|
|
NM_138694.4(PKHD1):c.6125del (p.Ser2042fs)
|
|
|
NM_138694.4(PKHD1):c.6147delinsAGATGTGTATAAGAGCAG (p.Cys2050fs)
|
|
|
NM_138694.4(PKHD1):c.6187del (p.Ala2063fs)
|
|
|
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)
|
|
|
NM_138694.4(PKHD1):c.6209G>A (p.Trp2070Ter)
|
|
|
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)
|
|
|
NM_138694.4(PKHD1):c.6273_6285delinsGAG (p.Glu2092fs)
|
|
|
NM_138694.4(PKHD1):c.6284_6285insAGATG (p.Val2096fs)
|
|
|
NM_138694.4(PKHD1):c.6285del (p.Val2096fs)
|
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
NM_138694.4(PKHD1):c.6311T>G (p.Leu2104Arg)
|
|
|
NM_138694.4(PKHD1):c.6312_6313del (p.Tyr2105fs)
|
|
|
NM_138694.4(PKHD1):c.6319_6321delinsT (p.Lys2107fs)
|
|
|
NM_138694.4(PKHD1):c.6332+1G>A
|
|
|
NM_138694.4(PKHD1):c.6332+3A>C
|
|
|
NM_138694.4(PKHD1):c.6333-13dup
|
rs138161138
|
|
NM_138694.4(PKHD1):c.6333-2A>G
|
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
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.6390del (p.Thr2131fs)
|
rs1783005266
|
|
NM_138694.4(PKHD1):c.6395_6396del (p.Val2132fs)
|
|
|
NM_138694.4(PKHD1):c.6410_6423del (p.Arg2137fs)
|
rs2127663896
|
|
NM_138694.4(PKHD1):c.6427G>A (p.Gly2143Arg)
|
|
|
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs)
|
|
|
NM_138694.4(PKHD1):c.6469C>T (p.Gln2157Ter)
|
|
|
NM_138694.4(PKHD1):c.6603del (p.Lys2202fs)
|
|
|
NM_138694.4(PKHD1):c.6617_6620delinsATAAAGACAGT (p.Phe2206fs)
|
|
|
NM_138694.4(PKHD1):c.6619_6620del (p.Gln2207fs)
|
|
|
NM_138694.4(PKHD1):c.661del (p.Tyr221fs)
|
|
|
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu)
|
rs369925690
|
|
NM_138694.4(PKHD1):c.6667_6668delinsTGA (p.Val2223Ter)
|
|
|
NM_138694.4(PKHD1):c.6683-2A>G
|
|
|
NM_138694.4(PKHD1):c.6702C>A (p.Cys2234Ter)
|
|
|
NM_138694.4(PKHD1):c.674A>G (p.Gln225Arg)
|
rs749690371
|
|
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=)
|
rs900150542
|
|
NM_138694.4(PKHD1):c.6776del (p.Phe2259fs)
|
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6809-2A>T
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6818C>T (p.Thr2273Met)
|
|
|
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter)
|
rs1583295819
|
|
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs)
|
rs760921148
|
|
NM_138694.4(PKHD1):c.6865+1G>A
|
|
|
NM_138694.4(PKHD1):c.6865+2T>C
|
|
|
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.6870G>A (p.Trp2290Ter)
|
|
|
NM_138694.4(PKHD1):c.6898A>G (p.Asn2300Asp)
|
rs2127622765
|
|
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)
|
rs373795139
|
|
NM_138694.4(PKHD1):c.6952A>C (p.Thr2318Pro)
|
rs2127622153
|
|
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
|
|
|
NM_138694.4(PKHD1):c.700A>T (p.Lys234Ter)
|
|
|
NM_138694.4(PKHD1):c.7012G>C (p.Gly2338Arg)
|
rs2127557145
|
|
NM_138694.4(PKHD1):c.703_704insATAAA (p.Gly235fs)
|
|
|
NM_138694.4(PKHD1):c.7060C>T (p.Gln2354Ter)
|
|
|
NM_138694.4(PKHD1):c.7060_7061del (p.Gln2354fs)
|
|
|
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs)
|
rs1583203255
|
|
NM_138694.4(PKHD1):c.707+143A>C
|
rs4711996
|
|
NM_138694.4(PKHD1):c.7081_7082del (p.Thr2361fs)
|
|
|
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter)
|
rs1057516221
|
|
NM_138694.4(PKHD1):c.7103G>T (p.Cys2368Phe)
|
|
|
NM_138694.4(PKHD1):c.7108del (p.Arg2370fs)
|
|
|
NM_138694.4(PKHD1):c.7109+2T>A
|
|
|
NM_138694.4(PKHD1):c.7109+3A>C
|
rs1583202788
|
|
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)
|
rs1554289495
|
|
NM_138694.4(PKHD1):c.7128C>G (p.Tyr2376Ter)
|
|
|
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
|
|
|
NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter)
|
rs757590581
|
|
NM_138694.4(PKHD1):c.7159_7160del (p.Thr2387fs)
|
|
|
NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs)
|
rs2127551949
|
|
NM_138694.4(PKHD1):c.7215+1G>T
|
|
|
NM_138694.4(PKHD1):c.7218delinsGTGTATAAGAGACAG (p.Ile2406fs)
|
|
|
NM_138694.4(PKHD1):c.7251_7252delinsT (p.Val2419fs)
|
|
|
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.7300del (p.Ala2434fs)
|
|
|
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val)
|
rs753450358
|
|
NM_138694.4(PKHD1):c.7310C>A (p.Ser2437Ter)
|
|
|
NM_138694.4(PKHD1):c.7311delinsTT (p.Val2438fs)
|
|
|
NM_138694.4(PKHD1):c.7325T>A (p.Leu2442Ter)
|
|
|
NM_138694.4(PKHD1):c.7328T>A (p.Leu2443Ter)
|
|
|
NM_138694.4(PKHD1):c.7348A>T (p.Lys2450Ter)
|
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7378A>T (p.Lys2460Ter)
|
|
|
NM_138694.4(PKHD1):c.7393_7404delinsGACA (p.Trp2465fs)
|
|
|
NM_138694.4(PKHD1):c.7394G>A (p.Trp2465Ter)
|
rs2151778258
|
|
NM_138694.4(PKHD1):c.7396G>T (p.Glu2466Ter)
|
|
|
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)
|
|
|
NM_138694.4(PKHD1):c.7450G>T (p.Ala2484Ser)
|
|
|
NM_138694.4(PKHD1):c.7466C>G (p.Ser2489Ter)
|
|
|
NM_138694.4(PKHD1):c.7486+41C>A
|
rs982874
|
|
NM_138694.4(PKHD1):c.7486G>A (p.Gly2496Ser)
|
|
|
NM_138694.4(PKHD1):c.7487-1G>C
|
|
|
NM_138694.4(PKHD1):c.7512_7522del (p.Gln2504fs)
|
|
|
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter)
|
rs769645972
|
|
NM_138694.4(PKHD1):c.7514T>G (p.Leu2505Trp)
|
rs769645972
|
|
NM_138694.4(PKHD1):c.7531_7532del (p.Ser2511fs)
|
|
|
NM_138694.4(PKHD1):c.7591_7592del (p.Leu2531fs)
|
|
|
NM_138694.4(PKHD1):c.7608_7609insGACCCATCCA (p.Ser2537fs)
|
|
|
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs)
|
rs1775351921
|
|
NM_138694.4(PKHD1):c.7661C>A (p.Ser2554Ter)
|
rs1775347142
|
|
NM_138694.4(PKHD1):c.7680_7681del (p.His2561fs)
|
|
|
NM_138694.4(PKHD1):c.7713del (p.His2572fs)
|
rs1057517078
|
|
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs)
|
rs797044745
|
|
NM_138694.4(PKHD1):c.7721dup (p.Met2574fs)
|
|
|
NM_138694.4(PKHD1):c.7733+1G>C
|
|
|
NM_138694.4(PKHD1):c.7734-27_7734-26dup
|
rs201176305
|
|
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile)
|
rs748895723
|
|
NM_138694.4(PKHD1):c.7758T>A (p.Tyr2586Ter)
|
|
|
NM_138694.4(PKHD1):c.776C>G (p.Ser259Ter)
|
|
|
NM_138694.4(PKHD1):c.778+1G>C
|
rs753471298
|
|
NM_138694.4(PKHD1):c.779-25dup
|
rs5876252
|
|
NM_138694.4(PKHD1):c.7893dup (p.Ile2632fs)
|
|
|
NM_138694.4(PKHD1):c.7912-2A>G
|
rs1554271235
|
|
NM_138694.4(PKHD1):c.7929del (p.Asp2643fs)
|
|
|
NM_138694.4(PKHD1):c.792_793del (p.Phe265fs)
|
|
|
NM_138694.4(PKHD1):c.7946A>T (p.Asn2649Ile)
|
rs2151628916
|
|
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)
|
rs1583013487
|
|
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
|
|
|
NM_138694.4(PKHD1):c.7_19del (p.Ala3fs)
|
|
|
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro)
|
rs778592523
|
|
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs)
|
rs1771488619
|
|
NM_138694.4(PKHD1):c.8028del (p.Pro2677fs)
|
|
|
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter)
|
rs768660365
|
|
NM_138694.4(PKHD1):c.8089_8090del (p.Arg2697fs)
|
|
|
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro)
|
rs1771471295
|
|
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)
|
rs754448530
|
|
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)
|
rs774050795
|
|
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)
|
rs1473182306
|
|
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)
|
rs1769233531
|
|
NM_138694.4(PKHD1):c.8162dup (p.Thr2722fs)
|
|
|
NM_138694.4(PKHD1):c.8174-2A>T
|
rs1582925274
|
|
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)
|
rs886042676
|
|
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter)
|
rs2151512212
|
|
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter)
|
rs2151512054
|
|
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs)
|
rs2151512076
|
|
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
|
rs794727756
|
|
NM_138694.4(PKHD1):c.8241del (p.Gly2748fs)
|
|
|
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala)
|
rs1562410143
|
|
NM_138694.4(PKHD1):c.8302+2T>C
|
rs2151510946
|
|
NM_138694.4(PKHD1):c.831_836del (p.277IT[1])
|
|
|
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys)
|
rs1793710520
|
|
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
|
|
|
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)
|
rs375145340
|
|
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly)
|
rs200432861
|
|
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter)
|
rs2128223990
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.8578del (p.Tyr2860fs)
|
|
|
NM_138694.4(PKHD1):c.8589T>A (p.Tyr2863Ter)
|
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.8604del (p.Ser2867_Trp2868insTer)
|
|
|
NM_138694.4(PKHD1):c.8641A>T (p.Arg2881Ter)
|
|
|
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=)
|
rs116098879
|
|
NM_138694.4(PKHD1):c.8677dup (p.His2893fs)
|
rs1554221465
|
|
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu)
|
rs1786704837
|
|
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)
|
rs749768205
|
|
NM_138694.4(PKHD1):c.8785_8786insCTT (p.His2929delinsProTyr)
|
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)
|
rs1582469785
|
|
NM_138694.4(PKHD1):c.8846_8847del (p.Glu2949fs)
|
|
|
NM_138694.4(PKHD1):c.8856del (p.Leu2952_Leu2953insTer)
|
|
|
NM_138694.4(PKHD1):c.8861C>T (p.Thr2954Ile)
|
|
|
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter)
|
rs1229564017
|
|
NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln)
|
|
|
NM_138694.4(PKHD1):c.8899G>A (p.Gly2967Arg)
|
|
|
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs)
|
rs1473686155
|
|
NM_138694.4(PKHD1):c.8926A>T (p.Lys2976Ter)
|
|
|
NM_138694.4(PKHD1):c.8932del (p.Ser2978fs)
|
|
|
NM_138694.4(PKHD1):c.8948C>A (p.Ser2983Ter)
|
|
|
NM_138694.4(PKHD1):c.8950+1G>T
|
rs1351918391
|
|
NM_138694.4(PKHD1):c.8987dup (p.Gly2997fs)
|
|
|
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
|
rs1582053820
|
|
NM_138694.4(PKHD1):c.9003C>A (p.Tyr3001Ter)
|
|
|
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)
|
rs775628123
|
|
NM_138694.4(PKHD1):c.9005C>A (p.Ser3002Ter)
|
|
|
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp)
|
rs1444969670
|
|
NM_138694.4(PKHD1):c.9148G>T (p.Gly3050Cys)
|
|
|
NM_138694.4(PKHD1):c.9166C>T (p.Gln3056Ter)
|
|
|
NM_138694.4(PKHD1):c.9169del (p.Ala3057fs)
|
|
|
NM_138694.4(PKHD1):c.9171del (p.Tyr3058fs)
|
|
|
NM_138694.4(PKHD1):c.9230G>A (p.Trp3077Ter)
|
rs1250269841
|
|
NM_138694.4(PKHD1):c.925T>C (p.Cys309Arg)
|
|
|
NM_138694.4(PKHD1):c.926G>C (p.Cys309Ser)
|
|
|
NM_138694.4(PKHD1):c.9288_9290del (p.Ala3097del)
|
rs2150985143
|
|
NM_138694.4(PKHD1):c.9289G>A (p.Ala3097Thr)
|
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9345del (p.Glu3115fs)
|
|
|
NM_138694.4(PKHD1):c.9353G>A (p.Trp3118Ter)
|
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)
|
rs1554218666
|
|
NM_138694.4(PKHD1):c.93C>A (p.Ser31Arg)
|
|
|
NM_138694.4(PKHD1):c.9455del (p.Asn3152fs)
|
|
|
NM_138694.4(PKHD1):c.9540_9543delinsTTT (p.Leu3180fs)
|
|
|
NM_138694.4(PKHD1):c.954del (p.Arg319fs)
|
rs1809305398
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9568C>T (p.Gln3190Ter)
|
|
|
NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs)
|
|
|
NM_138694.4(PKHD1):c.9600del (p.Arg3201fs)
|
|
|
NM_138694.4(PKHD1):c.9614T>C (p.Ile3205Thr)
|
|
|
NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg)
|
rs1785450007
|
|
NM_138694.4(PKHD1):c.9653_9654del (p.Lys3218fs)
|
|
|
NM_138694.4(PKHD1):c.9656_9657del (p.Val3219fs)
|
|
|
NM_138694.4(PKHD1):c.9693A>C (p.Arg3231Ser)
|
rs1194740215
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
NM_138694.4(PKHD1):c.9715G>A (p.Gly3239Ser)
|
|
|
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.9727del (p.Ile3243fs)
|
rs1562221540
|
|
NM_138694.4(PKHD1):c.9739G>C (p.Val3247Leu)
|
rs2150981332
|
|
NM_138694.4(PKHD1):c.977-2A>G
|
|
|
NM_138694.4(PKHD1):c.9825del (p.Gln3276fs)
|
|
|
NM_138694.4(PKHD1):c.9830-18_9842del
|
|
|
NM_138694.4(PKHD1):c.9830-1G>A
|
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
NM_138694.4(PKHD1):c.9834del (p.Thr3279fs)
|
|
|
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn)
|
rs370659581
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)
|
rs1307732644
|
|
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
|
|
|
NM_138694.4(PKHD1):c.9969del (p.Asn3323fs)
|
|
|
NM_138694.4(PKHD1):c.9970A>G (p.Lys3324Glu)
|
rs1785240656
|
|
NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del)
|
|
|
NM_138694.4(PKHD1):c.9974del (p.Phe3325fs)
|
|
|
NM_138694.4(PKHD1):c.9998+1G>T
|
rs1554217691
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
|
NM_138694.4(PKHD1):c.9999-1G>A
|
rs2150963039
|
|