NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)
|
rs9381994
|
0.52715
|
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=)
|
rs4018162
|
0.01868
|
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=)
|
rs144817614
|
0.01582
|
NM_198334.3(GANAB):c.714G>A (p.Pro238=)
|
rs139305180
|
0.01448
|
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp)
|
rs142202785
|
0.01272
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=)
|
rs114143642
|
0.01226
|
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)
|
rs147350387
|
0.01193
|
NM_138694.4(PKHD1):c.8174-18T>A
|
rs111383080
|
0.01154
|
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)
|
rs144557371
|
0.01150
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00985
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln)
|
rs142129358
|
0.00924
|
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)
|
rs145776888
|
0.00910
|
NM_198334.3(GANAB):c.380+15A>G
|
rs146098557
|
0.00910
|
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)
|
rs140869992
|
0.00811
|
NM_001009944.3(PKD1):c.1710C>T (p.His570=)
|
rs367983387
|
0.00775
|
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)
|
rs140791735
|
0.00769
|
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=)
|
rs113369380
|
0.00705
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)
|
rs149151043
|
0.00642
|
NM_001009944.3(PKD1):c.8161+8G>A
|
rs199569003
|
0.00559
|
NM_000297.4(PKD2):c.570G>T (p.Ala190=)
|
rs541702320
|
0.00554
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=)
|
rs144634185
|
0.00512
|
NM_001009944.3(PKD1):c.11411+18C>T
|
rs183078730
|
0.00483
|
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=)
|
rs202207855
|
0.00479
|
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=)
|
rs116216040
|
0.00469
|
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=)
|
rs62038811
|
0.00448
|
NM_001009944.3(PKD1):c.7065+21G>A
|
rs9930234
|
0.00418
|
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=)
|
rs139399947
|
0.00411
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)
|
rs141101590
|
0.00388
|
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)
|
rs149605181
|
0.00383
|
NM_003361.4(UMOD):c.1740+18C>T
|
rs113452476
|
0.00381
|
NM_003361.4(UMOD):c.1353C>G (p.Gly451=)
|
rs111904030
|
0.00378
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00364
|
NM_003361.4(UMOD):c.1062C>T (p.Phe354=)
|
rs78613713
|
0.00362
|
NM_001009944.3(PKD1):c.276G>A (p.Ala92=)
|
rs374518168
|
0.00354
|
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)
|
rs145955373
|
0.00349
|
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=)
|
rs57870377
|
0.00331
|
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln)
|
rs140189010
|
0.00328
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00324
|
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=)
|
rs138648495
|
0.00324
|
NM_001009944.3(PKD1):c.3296-15G>A
|
rs201704201
|
0.00316
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_198334.3(GANAB):c.38+17C>T
|
rs200471233
|
0.00275
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00272
|
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=)
|
rs143013095
|
0.00239
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp)
|
rs143953714
|
0.00215
|
NM_001009944.3(PKD1):c.7863+11C>T
|
rs368629973
|
0.00214
|
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)
|
rs369397443
|
0.00209
|
NM_001009944.3(PKD1):c.837G>A (p.Gly279=)
|
rs372124319
|
0.00199
|
NM_001009944.3(PKD1):c.10406-4C>T
|
rs151095649
|
0.00198
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
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_001009944.3(PKD1):c.11538-11C>T
|
rs377692278
|
0.00139
|
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=)
|
rs146745256
|
0.00137
|
NM_001009944.3(PKD1):c.11017-3C>T
|
rs185355445
|
0.00135
|
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
|
rs199569478
|
0.00125
|
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
NM_001009944.3(PKD1):c.588C>T (p.Ser196=)
|
rs776302294
|
0.00116
|
NM_001009944.3(PKD1):c.8161+12C>T
|
rs375283810
|
0.00113
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00109
|
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=)
|
rs141138826
|
0.00094
|
NM_001009944.3(PKD1):c.2109C>T (p.His703=)
|
rs527655141
|
0.00093
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
NM_138694.4(PKHD1):c.3097+15G>T
|
rs376878007
|
0.00093
|
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=)
|
rs144663361
|
0.00092
|
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)
|
rs148496347
|
0.00091
|
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=)
|
rs149623670
|
0.00090
|
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser)
|
rs200279710
|
0.00076
|
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)
|
rs201509188
|
0.00075
|
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=)
|
rs570750726
|
0.00073
|
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=)
|
rs12102740
|
0.00073
|
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=)
|
rs149924232
|
0.00068
|
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=)
|
rs373854628
|
0.00068
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_198334.3(GANAB):c.1386+18C>T
|
rs79188721
|
0.00066
|
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=)
|
rs117955701
|
0.00061
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)
|
rs140162759
|
0.00058
|
NM_001009944.3(PKD1):c.9713-4C>T
|
rs200434097
|
0.00058
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
NM_001009944.3(PKD1):c.12139-5C>T
|
rs146430229
|
0.00055
|
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=)
|
rs547262346
|
0.00054
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_138694.4(PKHD1):c.11311-19C>G
|
rs181140024
|
0.00052
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00045
|
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=)
|
rs2575316
|
0.00045
|
NM_000297.4(PKD2):c.1617G>C (p.Leu539=)
|
rs145297759
|
0.00044
|
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln)
|
rs146494724
|
0.00044
|
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=)
|
rs148159605
|
0.00044
|
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_173543.3(DZIP1L):c.256G>T (p.Val86Leu)
|
rs142726001
|
0.00044
|
NM_138694.4(PKHD1):c.11310+13A>G
|
rs191991777
|
0.00043
|
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=)
|
rs768813212
|
0.00041
|
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)
|
rs748887038
|
0.00040
|
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=)
|
rs181130940
|
0.00040
|
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val)
|
rs780145654
|
0.00039
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)
|
rs140662778
|
0.00037
|
NM_003361.4(UMOD):c.1500A>G (p.Ala500=)
|
rs200895986
|
0.00037
|
NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln)
|
rs753359659
|
0.00036
|
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met)
|
rs191685707
|
0.00035
|
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)
|
rs201991587
|
0.00035
|
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=)
|
rs373880615
|
0.00034
|
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=)
|
rs375408086
|
0.00033
|
NM_001009944.3(PKD1):c.951T>C (p.Ala317=)
|
rs540366995
|
0.00032
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)
|
rs142205860
|
0.00032
|
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=)
|
rs141132307
|
0.00031
|
NM_001009944.3(PKD1):c.10221-14C>T
|
rs201207354
|
0.00029
|
NM_138694.4(PKHD1):c.8174-19A>T
|
rs758233215
|
0.00028
|
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=)
|
rs149331148
|
0.00027
|
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met)
|
rs147141131
|
0.00024
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=)
|
rs376075101
|
0.00023
|
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=)
|
rs145648167
|
0.00023
|
NM_001009944.3(PKD1):c.10822-8C>G
|
rs9924796
|
0.00022
|
NM_001009944.3(PKD1):c.8162-12G>A
|
rs375993328
|
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_001009944.3(PKD1):c.288-20G>A
|
rs572319823
|
0.00021
|
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)
|
rs950293866
|
0.00020
|
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr)
|
rs201599671
|
0.00020
|
NM_001009944.3(PKD1):c.6915+19C>T
|
rs371376951
|
0.00020
|
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=)
|
rs556575921
|
0.00020
|
NM_138694.4(PKHD1):c.2821+10G>A
|
rs367619854
|
0.00020
|
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu)
|
rs139838478
|
0.00020
|
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=)
|
rs376838860
|
0.00019
|
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=)
|
rs759092782
|
0.00019
|
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)
|
rs372882189
|
0.00019
|
NM_138694.4(PKHD1):c.1603-19T>A
|
rs201996881
|
0.00019
|
NM_173543.3(DZIP1L):c.1017A>G (p.Arg339=)
|
rs147201722
|
0.00019
|
NM_001009944.3(PKD1):c.11412-6C>T
|
rs367775096
|
0.00018
|
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=)
|
rs377662680
|
0.00018
|
NM_138694.4(PKHD1):c.6490+8A>G
|
rs201984652
|
0.00018
|
NM_198334.3(GANAB):c.2343C>T (p.Ser781=)
|
rs779306237
|
0.00018
|
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp)
|
rs746771378
|
0.00017
|
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=)
|
rs142391112
|
0.00017
|
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His)
|
rs375198888
|
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_001009944.3(PKD1):c.1967T>A (p.Leu656Gln)
|
rs759950842
|
0.00016
|
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=)
|
rs767721989
|
0.00016
|
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=)
|
rs146103326
|
0.00016
|
NM_001009944.3(PKD1):c.543C>T (p.Val181=)
|
rs1365608859
|
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.4447G>A (p.Glu1483Lys)
|
rs146745096
|
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_198334.3(GANAB):c.2253G>A (p.Ala751=)
|
rs200456484
|
0.00016
|
NM_001009944.3(PKD1):c.10161C>T (p.His3387=)
|
rs143350197
|
0.00015
|
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=)
|
rs530703053
|
0.00015
|
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu)
|
rs200646755
|
0.00015
|
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=)
|
rs372759889
|
0.00015
|
NM_001009944.3(PKD1):c.8176C>T (p.Leu2726=)
|
rs573754849
|
0.00015
|
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)
|
rs145219220
|
0.00015
|
NM_138694.4(PKHD1):c.588G>A (p.Arg196=)
|
rs201773743
|
0.00015
|
NM_000297.4(PKD2):c.2583C>T (p.Asp861=)
|
rs369520452
|
0.00014
|
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser)
|
rs146527465
|
0.00014
|
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met)
|
rs760315179
|
0.00014
|
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=)
|
rs764827551
|
0.00014
|
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=)
|
rs199988586
|
0.00014
|
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln)
|
rs387907549
|
0.00014
|
NM_003361.4(UMOD):c.504C>T (p.Leu168=)
|
rs369454700
|
0.00014
|
NM_003361.4(UMOD):c.973+7C>T
|
rs557659943
|
0.00014
|
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp)
|
rs756825030
|
0.00014
|
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met)
|
rs767665300
|
0.00013
|
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=)
|
rs183090717
|
0.00013
|
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu)
|
rs145762096
|
0.00013
|
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys)
|
rs781114712
|
0.00013
|
NM_001009944.3(PKD1):c.726T>C (p.Phe242=)
|
rs750727364
|
0.00013
|
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=)
|
rs143124196
|
0.00013
|
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile)
|
rs188709583
|
0.00013
|
NM_003361.4(UMOD):c.599G>A (p.Arg200His)
|
rs940287917
|
0.00013
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser)
|
rs199947459
|
0.00012
|
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile)
|
rs141972092
|
0.00012
|
NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)
|
rs201801499
|
0.00012
|
NM_000297.4(PKD2):c.1092C>T (p.Thr364=)
|
rs149257723
|
0.00011
|
NM_000297.4(PKD2):c.2523-7C>T
|
rs199528409
|
0.00011
|
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=)
|
rs561467860
|
0.00011
|
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=)
|
rs372696163
|
0.00011
|
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=)
|
rs757969966
|
0.00011
|
NM_003361.4(UMOD):c.1383G>A (p.Ala461=)
|
rs147222401
|
0.00011
|
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)
|
rs374233100
|
0.00011
|
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)
|
rs751084512
|
0.00011
|
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys)
|
rs150838063
|
0.00010
|
NM_000297.4(PKD2):c.356G>A (p.Arg119His)
|
rs748654180
|
0.00010
|
NM_000297.4(PKD2):c.733A>C (p.Asn245His)
|
rs200543024
|
0.00010
|
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp)
|
rs769208706
|
0.00010
|
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=)
|
rs990065629
|
0.00010
|
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala)
|
rs766549097
|
0.00010
|
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=)
|
rs772143717
|
0.00010
|
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln)
|
rs62038819
|
0.00010
|
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met)
|
rs117896488
|
0.00010
|
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_000297.4(PKD2):c.2391A>C (p.Pro797=)
|
rs556777891
|
0.00009
|
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=)
|
rs201417193
|
0.00009
|
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe)
|
rs543561238
|
0.00009
|
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=)
|
rs146915755
|
0.00009
|
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp)
|
rs751031560
|
0.00009
|
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys)
|
rs374629549
|
0.00009
|
NM_003361.4(UMOD):c.430G>A (p.Asp144Asn)
|
rs769398465
|
0.00009
|
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val)
|
rs139742511
|
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_000297.4(PKD2):c.1717-7C>T
|
rs201267638
|
0.00008
|
NM_001009944.3(PKD1):c.8016+7T>C
|
rs746089639
|
0.00008
|
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=)
|
rs1159235832
|
0.00008
|
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn)
|
rs760056303
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_198334.3(GANAB):c.548C>T (p.Ala183Val)
|
rs921091711
|
0.00008
|
NM_198334.3(GANAB):c.926G>A (p.Arg309His)
|
rs144118755
|
0.00008
|
NM_000297.4(PKD2):c.2499C>T (p.Gly833=)
|
rs180709531
|
0.00007
|
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)
|
rs374609310
|
0.00007
|
NM_001009944.3(PKD1):c.11713-3C>T
|
rs754015180
|
0.00007
|
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=)
|
rs1344519371
|
0.00007
|
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr)
|
rs779342040
|
0.00007
|
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys)
|
rs554493059
|
0.00007
|
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr)
|
rs555901411
|
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_000297.4(PKD2):c.1654G>C (p.Ala552Pro)
|
rs369908107
|
0.00006
|
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val)
|
rs769636582
|
0.00006
|
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu)
|
rs151308544
|
0.00006
|
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val)
|
rs1353004865
|
0.00006
|
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys)
|
rs777608163
|
0.00006
|
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met)
|
rs544100161
|
0.00006
|
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys)
|
rs543328728
|
0.00006
|
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.4870C>T (p.Arg1624Trp)
|
rs200391019
|
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_198334.3(GANAB):c.1594-9C>T
|
rs200289173
|
0.00006
|
NM_198334.3(GANAB):c.253G>A (p.Val85Met)
|
rs1033126561
|
0.00006
|
NM_198334.3(GANAB):c.381-10T>C
|
rs371678104
|
0.00006
|
NM_000297.4(PKD2):c.1927G>A (p.Asp643Asn)
|
rs748354306
|
0.00005
|
NM_000297.4(PKD2):c.2491T>C (p.Ser831Pro)
|
rs149728995
|
0.00005
|
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=)
|
rs748123570
|
0.00005
|
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser)
|
rs752995047
|
0.00005
|
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=)
|
rs759043048
|
0.00005
|
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys)
|
rs773857360
|
0.00005
|
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser)
|
rs886265852
|
0.00005
|
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys)
|
rs531854741
|
0.00005
|
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=)
|
rs770635587
|
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.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_198334.3(GANAB):c.2334C>A (p.Asp778Glu)
|
rs937056702
|
0.00005
|
NM_000297.4(PKD2):c.2186T>A (p.Leu729Gln)
|
rs569788968
|
0.00004
|
NM_000297.4(PKD2):c.514G>T (p.Asp172Tyr)
|
rs886059698
|
0.00004
|
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile)
|
rs754956606
|
0.00004
|
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser)
|
rs781492044
|
0.00004
|
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys)
|
rs553106581
|
0.00004
|
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg)
|
rs776110243
|
0.00004
|
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=)
|
rs377661579
|
0.00004
|
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu)
|
rs138096771
|
0.00004
|
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=)
|
rs142035983
|
0.00004
|
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
|
rs760993331
|
0.00004
|
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser)
|
rs544092291
|
0.00004
|
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro)
|
rs773527738
|
0.00004
|
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=)
|
rs556708086
|
0.00004
|
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys)
|
rs754486194
|
0.00004
|
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met)
|
rs780043149
|
0.00004
|
NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys)
|
rs367918229
|
0.00004
|
NM_001009944.3(PKD1):c.7767C>T (p.His2589=)
|
rs555499745
|
0.00004
|
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg)
|
rs202086892
|
0.00004
|
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=)
|
rs535771951
|
0.00004
|
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His)
|
rs1063405
|
0.00004
|
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr)
|
rs533152302
|
0.00004
|
NM_003361.4(UMOD):c.1362C>A (p.Gly454=)
|
rs770875763
|
0.00004
|
NM_003361.4(UMOD):c.685A>T (p.Met229Leu)
|
rs756226236
|
0.00004
|
NM_003361.4(UMOD):c.875C>A (p.Ser292Tyr)
|
rs147199402
|
0.00004
|
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.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.2330C>T (p.Thr777Met)
|
rs564240823
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
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.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.434C>G (p.Pro145Arg)
|
rs146649894
|
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.7469A>G (p.Asp2490Gly)
|
rs746000400
|
0.00004
|
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=)
|
rs749740610
|
0.00004
|
NM_198334.3(GANAB):c.2093G>A (p.Arg698Gln)
|
rs765000469
|
0.00004
|
NM_198334.3(GANAB):c.2512-13A>G
|
rs376460143
|
0.00004
|
NM_000297.4(PKD2):c.2118+19C>T
|
rs777790980
|
0.00003
|
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile)
|
rs200120839
|
0.00003
|
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp)
|
rs889547396
|
0.00003
|
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser)
|
rs1320256969
|
0.00003
|
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)
|
rs932577597
|
0.00003
|
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)
|
rs773329559
|
0.00003
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=)
|
rs781761438
|
0.00003
|
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter)
|
rs1567200098
|
0.00003
|
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser)
|
rs552542784
|
0.00003
|
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr)
|
rs779607937
|
0.00003
|
NM_001009944.3(PKD1):c.5645C>T (p.Thr1882Met)
|
rs772716160
|
0.00003
|
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu)
|
rs767363184
|
0.00003
|
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr)
|
rs771364071
|
0.00003
|
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser)
|
rs1211697062
|
0.00003
|
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.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.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.4855G>T (p.Gly1619Cys)
|
rs762702777
|
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_000297.4(PKD2):c.1250G>A (p.Arg417Gln)
|
rs142261953
|
0.00002
|
NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys)
|
rs773998492
|
0.00002
|
NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp)
|
rs749112798
|
0.00002
|
NM_000297.4(PKD2):c.2314G>A (p.Glu772Lys)
|
rs774525905
|
0.00002
|
NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn)
|
rs370489860
|
0.00002
|
NM_000297.4(PKD2):c.587G>C (p.Gly196Ala)
|
rs1377684533
|
0.00002
|
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys)
|
rs765408067
|
0.00002
|
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val)
|
rs775988021
|
0.00002
|
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys)
|
rs1085307552
|
0.00002
|
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=)
|
rs754575596
|
0.00002
|
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys)
|
rs755462601
|
0.00002
|
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu)
|
rs781681199
|
0.00002
|
NM_001009944.3(PKD1):c.747C>T (p.Ser249=)
|
rs568816990
|
0.00002
|
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly)
|
rs3874655
|
0.00002
|
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu)
|
rs769345341
|
0.00002
|
NM_001009944.3(PKD1):c.8795A>G (p.His2932Arg)
|
rs201524173
|
0.00002
|
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile)
|
rs966307189
|
0.00002
|
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
|
rs776866974
|
0.00002
|
NM_001009944.3(PKD1):c.9713-17C>G
|
rs766238514
|
0.00002
|
NM_003361.4(UMOD):c.1459G>A (p.Val487Met)
|
rs375158769
|
0.00002
|
NM_003361.4(UMOD):c.1640G>A (p.Arg547Gln)
|
rs780358900
|
0.00002
|
NM_003361.4(UMOD):c.1680C>G (p.Asp560Glu)
|
rs200473249
|
0.00002
|
NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile)
|
rs751927256
|
0.00002
|
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp)
|
rs760253448
|
0.00002
|
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.108G>A (p.Thr36=)
|
rs779123303
|
0.00002
|
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=)
|
rs1268794606
|
0.00002
|
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=)
|
rs886043022
|
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.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.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.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.8156T>C (p.Met2719Thr)
|
rs368696503
|
0.00002
|
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val)
|
rs762313489
|
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_198334.3(GANAB):c.323C>T (p.Pro108Leu)
|
rs200232092
|
0.00002
|
NM_198334.3(GANAB):c.560+469C>T
|
rs777394229
|
0.00002
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
NM_000297.4(PKD2):c.1094+1G>A
|
rs58606740
|
0.00001
|
NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr)
|
rs144431856
|
0.00001
|
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu)
|
rs1408612463
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg)
|
rs181037821
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser)
|
rs747895445
|
0.00001
|
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter)
|
rs1276594505
|
0.00001
|
NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn)
|
rs761597786
|
0.00001
|
NM_000297.4(PKD2):c.2460C>T (p.Ser820=)
|
rs572822238
|
0.00001
|
NM_000297.4(PKD2):c.251G>A (p.Arg84Gln)
|
rs1326556150
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.2585C>T (p.Ala862Val)
|
rs767919784
|
0.00001
|
NM_000297.4(PKD2):c.2743C>T (p.Arg915Cys)
|
rs1215199829
|
0.00001
|
NM_000297.4(PKD2):c.2762C>T (p.Ala921Val)
|
rs545898956
|
0.00001
|
NM_000297.4(PKD2):c.2837C>T (p.Pro946Leu)
|
rs370039125
|
0.00001
|
NM_000297.4(PKD2):c.485C>T (p.Pro162Leu)
|
rs1034653764
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_000297.4(PKD2):c.710-10T>G
|
rs1727324181
|
0.00001
|
NM_000297.4(PKD2):c.783C>T (p.Pro261=)
|
rs766343471
|
0.00001
|
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)
|
rs145877597
|
0.00001
|
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys)
|
rs1287231217
|
0.00001
|
NM_001009944.3(PKD1):c.10050+10G>C
|
rs746704728
|
0.00001
|
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs)
|
rs2091618729
|
0.00001
|
NM_001009944.3(PKD1):c.11942C>T (p.Ala3981Val)
|
rs1424119004
|
0.00001
|
NM_001009944.3(PKD1):c.12526C>T (p.Pro4176Ser)
|
rs755976712
|
0.00001
|
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser)
|
rs1311664031
|
0.00001
|
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile)
|
rs928084406
|
0.00001
|
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro)
|
rs2369063
|
0.00001
|
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)
|
rs1163700577
|
0.00001
|
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val)
|
rs1393997103
|
0.00001
|
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly)
|
rs751293870
|
0.00001
|
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser)
|
rs1474271392
|
0.00001
|
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=)
|
rs776410570
|
0.00001
|
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter)
|
rs1183899324
|
0.00001
|
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met)
|
rs2575314
|
0.00001
|
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro)
|
rs541777274
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
|
rs374424212
|
0.00001
|
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn)
|
rs1199050207
|
0.00001
|
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met)
|
rs1114167373
|
0.00001
|
NM_001009944.3(PKD1):c.6446C>T (p.Pro2149Leu)
|
rs982097679
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr)
|
rs749515571
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile)
|
rs566531762
|
0.00001
|
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=)
|
rs377029031
|
0.00001
|
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu)
|
rs760592410
|
0.00001
|
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met)
|
rs1456510041
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.9202-16G>A
|
rs1389523126
|
0.00001
|
NM_001009944.3(PKD1):c.9688G>C (p.Val3230Leu)
|
rs747054731
|
0.00001
|
NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys)
|
rs757771138
|
0.00001
|
NM_003361.4(UMOD):c.1390C>T (p.Gln464Ter)
|
rs373412017
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
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.11314C>T (p.Arg3772Ter)
|
rs199839578
|
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.1480C>T (p.Arg494Ter)
|
rs754392766
|
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.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.2180A>G (p.Asn727Ser)
|
rs727504090
|
0.00001
|
NM_138694.4(PKHD1):c.2280-4A>T
|
rs549804372
|
0.00001
|
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)
|
rs371928571
|
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.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met)
|
rs530600526
|
0.00001
|
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln)
|
rs899785229
|
0.00001
|
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val)
|
rs727504088
|
0.00001
|
NM_138694.4(PKHD1):c.3229-7T>G
|
rs780401384
|
0.00001
|
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)
|
rs1554200780
|
0.00001
|
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser)
|
rs747233443
|
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.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.5226G>A (p.Thr1742=)
|
rs747933439
|
0.00001
|
NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser)
|
rs746705122
|
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.5511C>T (p.Leu1837=)
|
rs1241103975
|
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.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.6771T>C (p.Asn2257=)
|
rs1315333212
|
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.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.7976C>T (p.Pro2659Leu)
|
rs776654447
|
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.8555-2A>C
|
rs1020621286
|
0.00001
|
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)
|
rs779168950
|
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.8830A>G (p.Ile2944Val)
|
rs773010322
|
0.00001
|
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu)
|
rs141912421
|
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.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
NM_198334.3(GANAB):c.2177T>C (p.Met726Thr)
|
rs772357517
|
0.00001
|
NM_198334.3(GANAB):c.415G>A (p.Glu139Lys)
|
rs1033886387
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:2089795-2185919)
|
|
|
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
|
|
|
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
|
|
|
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
|
|
|
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)
|
rs2110107236
|
|
NM_000297.4(PKD2):c.1047dup (p.Val350fs)
|
rs1578130597
|
|
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys)
|
rs375164861
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.109G>A (p.Gly37Ser)
|
rs1007960523
|
|
NM_000297.4(PKD2):c.110del (p.Gly37fs)
|
rs2110080128
|
|
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)
|
rs121918039
|
|
NM_000297.4(PKD2):c.1146C>A (p.Ile382=)
|
rs1351905972
|
|
NM_000297.4(PKD2):c.1261G>A (p.Ala421Thr)
|
rs748280556
|
|
NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser)
|
rs748280556
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)
|
rs1578135870
|
|
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)
|
rs121918042
|
|
NM_000297.4(PKD2):c.1445del (p.Phe482fs)
|
rs1578135940
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.1573A>C (p.Asn525His)
|
rs1720121916
|
|
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter)
|
rs1720124087
|
|
NM_000297.4(PKD2):c.1617G>A (p.Leu539=)
|
rs145297759
|
|
NM_000297.4(PKD2):c.1668dup (p.Gln557fs)
|
rs1578139269
|
|
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu)
|
rs1720129428
|
|
NM_000297.4(PKD2):c.1716+2T>A
|
rs1720129561
|
|
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del)
|
rs1720323681
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp)
|
rs138476749
|
|
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile)
|
rs1720430638
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs)
|
rs1578144898
|
|
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile)
|
rs943891159
|
|
NM_000297.4(PKD2):c.2159del (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu)
|
rs529945469
|
|
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser)
|
rs868519938
|
|
NM_000297.4(PKD2):c.2240+1G>A
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2241-2A>G
|
rs1560626499
|
|
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter)
|
rs1578147448
|
|
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2318A>G (p.His773Arg)
|
rs748554287
|
|
NM_000297.4(PKD2):c.2358+5G>A
|
rs1720774022
|
|
NM_000297.4(PKD2):c.235C>T (p.Leu79Phe)
|
rs1726235229
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)
|
rs1560632930
|
|
NM_000297.4(PKD2):c.2614C>G (p.Arg872Gly)
|
rs755226061
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.2728C>T (p.Arg910Cys)
|
rs377398357
|
|
NM_000297.4(PKD2):c.2773A>T (p.Ile925Phe)
|
rs888130252
|
|
NM_000297.4(PKD2):c.2819G>A (p.Arg940His)
|
rs756158263
|
|
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe)
|
rs749666891
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter)
|
rs1163840810
|
|
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser)
|
rs1726264964
|
|
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)
|
rs2110089248
|
|
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter)
|
rs1578129049
|
|
NM_000297.4(PKD2):c.776A>C (p.Asp259Ala)
|
rs768028361
|
|
NM_000297.4(PKD2):c.783dup (p.Val262fs)
|
rs2110104877
|
|
NM_000297.4(PKD2):c.817_818del (p.Leu273fs)
|
rs1057518969
|
|
NM_000297.4(PKD2):c.843+1G>A
|
rs1727333593
|
|
NM_000297.4(PKD2):c.916C>G (p.Arg306Gly)
|
rs200001068
|
|
NM_000297.4(PKD2):c.952dup (p.Val318fs)
|
rs2110107069
|
|
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
|
rs749004212
|
|
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)
|
rs1727420867
|
|
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs)
|
rs1567165997
|
|
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter)
|
rs2151728536
|
|
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter)
|
rs2151727019
|
|
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)
|
rs1064794206
|
|
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)
|
rs1385274120
|
|
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs)
|
rs2091883381
|
|
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg)
|
rs752503970
|
|
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs)
|
rs2151710519
|
|
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)
|
rs1378307448
|
|
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=)
|
rs745763060
|
|
NM_001009944.3(PKD1):c.10619-13del
|
rs562614426
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])
|
rs777460677
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4])
|
rs777460677
|
|
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)
|
rs1555447011
|
|
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe)
|
rs2091723749
|
|
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met)
|
rs1428207672
|
|
NM_001009944.3(PKD1):c.108del (p.Cys37fs)
|
rs2092941062
|
|
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser)
|
rs2091705970
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
NM_001009944.3(PKD1):c.11156+1G>T
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)
|
rs1555446576
|
|
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala)
|
rs780574700
|
|
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)
|
rs1555446411
|
|
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs)
|
rs1567155179
|
|
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro)
|
rs546924823
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)
|
rs201085734
|
|
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup)
|
rs2091618795
|
|
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)
|
rs2091619053
|
|
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val)
|
rs142455071
|
|
NM_001009944.3(PKD1):c.11412-7C>T
|
rs553377243
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)
|
rs2151698069
|
|
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)
|
rs1555445740
|
|
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)
|
rs199476098
|
|
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter)
|
rs199476098
|
|
NM_001009944.3(PKD1):c.11537+2T>A
|
rs2151697557
|
|
NM_001009944.3(PKD1):c.11538-4G>T
|
rs763279854
|
|
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs)
|
rs724159823
|
|
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro)
|
rs2151695909
|
|
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter)
|
rs2091580237
|
|
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)
|
rs1555445585
|
|
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg)
|
rs1555445569
|
|
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val)
|
rs1251469390
|
|
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs)
|
rs2151695024
|
|
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter)
|
rs2091572700
|
|
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter)
|
rs2091498706
|
|
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)
|
rs2091493090
|
|
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)
|
rs1596476503
|
|
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=)
|
rs77634115
|
|
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)
|
rs1161012209
|
|
NM_001009944.3(PKD1):c.12004-2A>C
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.12004-2A>G
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.1202-1G>A
|
rs2151822688
|
|
NM_001009944.3(PKD1):c.1202-9G>A
|
rs1596588606
|
|
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)
|
rs1555444985
|
|
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
|
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter)
|
rs1218054241
|
|
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg)
|
rs767579073
|
|
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)
|
rs199476094
|
|
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe)
|
rs186160250
|
|
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)
|
rs1060499718
|
|
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)
|
rs2091437893
|
|
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs)
|
rs2151680679
|
|
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)
|
rs1282668884
|
|
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His)
|
rs36221080
|
|
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
|
|
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)
|
rs199476095
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)
|
rs2091391674
|
|
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)
|
rs1181168635
|
|
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln)
|
rs1188304476
|
|
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=)
|
rs375443308
|
|
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)
|
rs777990224
|
|
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr)
|
rs2092660647
|
|
NM_001009944.3(PKD1):c.1326del (p.Ala443fs)
|
rs2151822381
|
|
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs)
|
rs2151820943
|
|
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)
|
rs58598099
|
|
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs)
|
rs2151820655
|
|
NM_001009944.3(PKD1):c.1606+1G>A
|
rs2151820539
|
|
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs)
|
rs3072277
|
|
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His)
|
rs1382845038
|
|
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)
|
rs1555462438
|
|
NM_001009944.3(PKD1):c.1722+2T>C
|
rs886041836
|
|
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)
|
rs1596582702
|
|
NM_001009944.3(PKD1):c.1849+1G>T
|
rs2092628618
|
|
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp)
|
rs763213387
|
|
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter)
|
rs1348307652
|
|
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs)
|
rs2151816205
|
|
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2097+1G>A
|
rs2151816064
|
|
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln)
|
rs527655141
|
|
NM_001009944.3(PKD1):c.215+2_215+3del
|
rs2092939625
|
|
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs)
|
rs2092600549
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs)
|
rs1555457807
|
|
NM_001009944.3(PKD1):c.2659del (p.Trp887fs)
|
rs2092593850
|
|
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter)
|
rs2151812964
|
|
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter)
|
rs1339097856
|
|
NM_001009944.3(PKD1):c.2853+1G>A
|
rs2151812559
|
|
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=)
|
rs1324429294
|
|
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter)
|
rs753261451
|
|
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser)
|
rs28681051
|
|
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)
|
rs2151806438
|
|
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser)
|
rs2151804604
|
|
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)
|
rs2092538738
|
|
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser)
|
rs2092538545
|
|
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter)
|
rs1596563657
|
|
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)
|
rs755084885
|
|
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)
|
rs1320867301
|
|
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=)
|
rs151026121
|
|
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys)
|
rs1483748105
|
|
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)
|
rs2092683596
|
|
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)
|
rs2151801188
|
|
NM_001009944.3(PKD1):c.359+2T>G
|
rs2092683440
|
|
NM_001009944.3(PKD1):c.359+5G>A
|
rs2092683412
|
|
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
|
rs139100448
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro)
|
rs2092941758
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser)
|
rs2092493397
|
|
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs)
|
rs2092491511
|
|
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys)
|
rs2092679535
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)
|
rs1596591955
|
|
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly)
|
rs149210297
|
|
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter)
|
rs1567201083
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)
|
rs1567200117
|
|
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=)
|
rs201988915
|
|
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)
|
rs144200494
|
|
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4654del (p.Val1552fs)
|
rs2047525622
|
|
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=)
|
rs114489044
|
|
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs)
|
rs2151796475
|
|
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter)
|
rs202110519
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)
|
rs1264176877
|
|
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)
|
rs1596557266
|
|
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)
|
rs1596557065
|
|
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=)
|
rs144091742
|
|
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)
|
rs1057518783
|
|
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln)
|
rs569887918
|
|
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs)
|
rs1596556375
|
|
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu)
|
rs770462764
|
|
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter)
|
rs2092452489
|
|
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter)
|
rs2092450284
|
|
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs)
|
rs1567196314
|
|
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala)
|
rs1555459201
|
|
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter)
|
rs1304952446
|
|
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)
|
rs199476101
|
|
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys)
|
rs776113903
|
|
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)
|
rs1567195059
|
|
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val)
|
rs375440448
|
|
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)
|
rs2092439541
|
|
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs)
|
rs2151790499
|
|
NM_001009944.3(PKD1):c.601dup (p.His201fs)
|
rs2151824362
|
|
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)
|
rs1555454739
|
|
NM_001009944.3(PKD1):c.603C>G (p.His201Gln)
|
rs13334842
|
|
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter)
|
rs2151790199
|
|
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter)
|
rs755747732
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=)
|
rs886038370
|
|
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser)
|
rs1596552090
|
|
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs)
|
rs2151824295
|
|
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly)
|
rs2151788839
|
|
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro)
|
rs1596551934
|
|
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter)
|
rs2092425533
|
|
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter)
|
rs2151788037
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter)
|
rs1485307916
|
|
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)
|
rs1555454373
|
|
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)
|
rs1555454353
|
|
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter)
|
rs1567192286
|
|
NM_001009944.3(PKD1):c.659del (p.Gly220fs)
|
rs2151824233
|
|
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)
|
rs2151786683
|
|
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu)
|
rs1567218284
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs)
|
rs2151786400
|
|
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)
|
rs1567191534
|
|
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)
|
rs1567191179
|
|
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter)
|
rs755591790
|
|
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg)
|
rs2151824152
|
|
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys)
|
rs2151783812
|
|
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs)
|
rs1596548114
|
|
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter)
|
rs2092400157
|
|
NM_001009944.3(PKD1):c.7065+1G>A
|
rs2151783532
|
|
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)
|
rs752114168
|
|
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)
|
rs1555453360
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)
|
rs1367567191
|
|
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
|
rs2432403
|
|
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)
|
rs1567186165
|
|
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=)
|
rs573611925
|
|
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del)
|
rs1391744174
|
|
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu)
|
rs539143745
|
|
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His)
|
rs781066020
|
|
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg)
|
rs771788496
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly)
|
rs2092327341
|
|
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)
|
rs750913623
|
|
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter)
|
rs764840802
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.7951del (p.Val2651fs)
|
rs2151766847
|
|
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter)
|
rs1567182193
|
|
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=)
|
rs537012440
|
|
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter)
|
rs2092301272
|
|
NM_001009944.3(PKD1):c.8016+2T>C
|
rs1596536505
|
|
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile)
|
rs1269793804
|
|
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs)
|
rs2092262890
|
|
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu)
|
rs1395231369
|
|
NM_001009944.3(PKD1):c.8162-1G>A
|
rs1555451430
|
|
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter)
|
rs2092205600
|
|
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer)
|
rs2151756041
|
|
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)
|
rs879809222
|
|
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro)
|
rs145629362
|
|
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)
|
rs1596527405
|
|
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs)
|
rs2092202856
|
|
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=)
|
rs886038371
|
|
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter)
|
rs2092196354
|
|
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter)
|
rs1364976535
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)
|
rs1567176750
|
|
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)
|
rs1555450968
|
|
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs)
|
rs2151754069
|
|
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)
|
rs747638599
|
|
NM_001009944.3(PKD1):c.8791+5G>A
|
rs751652400
|
|
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys)
|
rs2151752267
|
|
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)
|
rs750780241
|
|
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg)
|
rs757527492
|
|
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del)
|
rs1358948221
|
|
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)
|
rs1567174997
|
|
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)
|
rs1596522636
|
|
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro)
|
rs746460070
|
|
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln)
|
rs750501225
|
|
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro)
|
rs2151750096
|
|
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg)
|
rs2151750082
|
|
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val)
|
rs769436046
|
|
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr)
|
rs200360336
|
|
NM_001009944.3(PKD1):c.9201+1G>A
|
rs2151749304
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu)
|
rs2092119222
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu)
|
rs1358566538
|
|
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro)
|
rs2092051851
|
|
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg)
|
rs1596515144
|
|
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)
|
rs869312944
|
|
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter)
|
rs1474701377
|
|
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe)
|
rs1422698524
|
|
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs)
|
rs2151740671
|
|
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter)
|
rs2151740638
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
NM_001009944.3(PKD1):c.9924-1G>C
|
rs2151738493
|
|
NM_001009944.3(PKD1):c.9924-9_9924-7del
|
rs892390487
|
|
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met)
|
rs541894980
|
|
NM_003361.4(UMOD):c.1100C>G (p.Ser367Trp)
|
rs138178893
|
|
NM_003361.4(UMOD):c.114T>C (p.Asn38=)
|
rs766555124
|
|
NM_003361.4(UMOD):c.116C>A (p.Ala39Asp)
|
rs762973149
|
|
NM_003361.4(UMOD):c.1195del (p.His399fs)
|
rs780493255
|
|
NM_003361.4(UMOD):c.139G>A (p.Val47Ile)
|
rs917737950
|
|
NM_003361.4(UMOD):c.1577+11G>A
|
rs184055420
|
|
NM_003361.4(UMOD):c.165C>T (p.Gly55=)
|
rs1478057939
|
|
NM_003361.4(UMOD):c.202G>A (p.Glu68Lys)
|
rs1965761636
|
|
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp)
|
rs1449715458
|
|
NM_003361.4(UMOD):c.272_274del (p.Ser91del)
|
rs1965755740
|
|
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
|
rs878855325
|
|
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)
|
rs398123697
|
|
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg)
|
rs121917769
|
|
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)
|
rs1555487528
|
|
NM_003361.4(UMOD):c.539T>C (p.Leu180Pro)
|
rs794727496
|
|
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys)
|
rs1064796542
|
|
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys)
|
rs1567310155
|
|
NM_003361.4(UMOD):c.555C>T (p.Arg185=)
|
rs866510195
|
|
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)
|
rs1567310019
|
|
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu)
|
rs1447458978
|
|
NM_003361.4(UMOD):c.840C>T (p.Pro280=)
|
rs78691203
|
|
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)
|
rs1555487316
|
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)
|
rs1554216538
|
|
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro)
|
rs2150962340
|
|
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His)
|
rs752841263
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
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.10620T>C (p.Asp3540=)
|
rs2150414839
|
|
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
|
rs148300854
|
|
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.11378C>T (p.Ala3793Val)
|
rs1299129734
|
|
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser)
|
rs548244367
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=)
|
rs779069598
|
|
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=)
|
rs2150241037
|
|
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.1478TCCGAG[3] (p.Val495_Arg496dup)
|
rs1554217514
|
|
NM_138694.4(PKHD1):c.1603-14_1603-13del
|
rs748577508
|
|
NM_138694.4(PKHD1):c.1854del (p.Gly619fs)
|
rs1807328785
|
|
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.2217G>A (p.Pro739=)
|
rs373367366
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)
|
rs777183511
|
|
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.2592+1G>C
|
rs758812102
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)
|
rs536715802
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg)
|
rs794727447
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs)
|
rs2128152615
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu)
|
rs140815495
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)
|
rs1802073525
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=)
|
rs756553815
|
|
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe)
|
rs565836750
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)
|
rs370608473
|
|
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.488G>T (p.Arg163Ile)
|
rs932913425
|
|
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val)
|
rs749029593
|
|
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)
|
rs1801882752
|
|
NM_138694.4(PKHD1):c.528-9del
|
rs753686281
|
|
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.547C>T (p.Gln183Ter)
|
rs2128231908
|
|
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser)
|
rs1562140504
|
|
NM_138694.4(PKHD1):c.5751+1G>A
|
rs775638588
|
|
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=)
|
rs398124489
|
|
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp)
|
rs543037335
|
|
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe)
|
rs1791759592
|
|
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.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs)
|
rs2127768101
|
|
NM_138694.4(PKHD1):c.6333-13dup
|
rs138161138
|
|
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.6754C>T (p.Leu2252=)
|
rs900150542
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6866-4_6866-2del
|
rs748114217
|
|
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)
|
rs373795139
|
|
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val)
|
rs753450358
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter)
|
rs769645972
|
|
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs)
|
rs797044745
|
|
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.810C>A (p.Ser270Arg)
|
rs754448530
|
|
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)
|
rs1769233531
|
|
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter)
|
rs2151512054
|
|
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
|
rs794727756
|
|
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala)
|
rs1562410143
|
|
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys)
|
rs1793710520
|
|
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly)
|
rs200432861
|
|
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=)
|
rs116098879
|
|
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu)
|
rs1786704837
|
|
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)
|
rs1582469785
|
|
NM_138694.4(PKHD1):c.8950+1G>T
|
rs1351918391
|
|
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp)
|
rs1444969670
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.954del (p.Arg319fs)
|
rs1809305398
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
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_198334.3(GANAB):c.1142G>C (p.Ser381Thr)
|
rs1043983959
|
|
NM_198334.3(GANAB):c.152_153del (p.Arg51fs)
|
rs752158933
|
|
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)
|
rs879255641
|
|
NM_198334.3(GANAB):c.2021G>A (p.Arg674Gln)
|
rs2134469442
|
|
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)
|
rs879255643
|
|
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter)
|
rs754785664
|
|