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_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp)
|
rs142202785
|
0.01272
|
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_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)
|
rs144557371
|
0.01150
|
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)
|
rs145776888
|
0.00910
|
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln)
|
rs142129358
|
0.00865
|
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_001009944.3(PKD1):c.11523C>T (p.Asn3841=)
|
rs113369380
|
0.00705
|
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)
|
rs149151043
|
0.00622
|
NM_001009944.3(PKD1):c.8161+8G>A
|
rs199569003
|
0.00547
|
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
|
0.00429
|
NM_001009944.3(PKD1):c.7065+21G>A
|
rs9930234
|
0.00418
|
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=)
|
rs139399947
|
0.00399
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
NM_001009944.3(PKD1):c.276G>A (p.Ala92=)
|
rs374518168
|
0.00388
|
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)
|
rs141101590
|
0.00388
|
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)
|
rs145955373
|
0.00360
|
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)
|
rs149605181
|
0.00352
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00346
|
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=)
|
rs57870377
|
0.00331
|
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=)
|
rs138648495
|
0.00324
|
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln)
|
rs140189010
|
0.00313
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00313
|
NM_001009944.3(PKD1):c.3296-15G>A
|
rs201704201
|
0.00306
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00270
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00216
|
NM_001009944.3(PKD1):c.7863+11C>T
|
rs368629973
|
0.00214
|
NM_001009944.3(PKD1):c.837G>A (p.Gly279=)
|
rs372124319
|
0.00210
|
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)
|
rs369397443
|
0.00209
|
NM_001009944.3(PKD1):c.10406-4C>T
|
rs151095649
|
0.00198
|
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp)
|
rs143953714
|
0.00195
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_001009944.3(PKD1):c.11538-11C>T
|
rs377692278
|
0.00137
|
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.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
|
rs199569478
|
0.00115
|
NM_001009944.3(PKD1):c.588C>T (p.Ser196=)
|
rs776302294
|
0.00115
|
NM_001009944.3(PKD1):c.8161+12C>T
|
rs375283810
|
0.00112
|
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=)
|
rs143013095
|
0.00108
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00105
|
NM_001009944.3(PKD1):c.2109C>T (p.His703=)
|
rs527655141
|
0.00097
|
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=)
|
rs141138826
|
0.00094
|
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=)
|
rs144663361
|
0.00092
|
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=)
|
rs149623670
|
0.00090
|
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)
|
rs148496347
|
0.00089
|
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.9640C>T (p.Leu3214=)
|
rs12102740
|
0.00073
|
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=)
|
rs570750726
|
0.00070
|
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=)
|
rs373854628
|
0.00068
|
NM_001009944.3(PKD1):c.12139-5C>T
|
rs146430229
|
0.00063
|
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=)
|
rs117955701
|
0.00061
|
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=)
|
rs149924232
|
0.00060
|
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_001009944.3(PKD1):c.11688C>T (p.Gly3896=)
|
rs547262346
|
0.00054
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=)
|
rs2575316
|
0.00045
|
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln)
|
rs146494724
|
0.00044
|
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=)
|
rs768813212
|
0.00041
|
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=)
|
rs148159605
|
0.00041
|
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val)
|
rs780145654
|
0.00039
|
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=)
|
rs376838860
|
0.00038
|
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)
|
rs748887038
|
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
|
0.00033
|
NM_001009944.3(PKD1):c.10619-13del
|
rs562614426
|
0.00033
|
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)
|
rs140662778
|
0.00033
|
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_001009944.3(PKD1):c.12270C>G (p.Leu4090=)
|
rs141132307
|
0.00031
|
NM_001009944.3(PKD1):c.10221-14C>T
|
rs201207354
|
0.00029
|
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=)
|
rs149331148
|
0.00027
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00026
|
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=)
|
rs376075101
|
0.00025
|
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met)
|
rs147141131
|
0.00025
|
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=)
|
rs181130940
|
0.00025
|
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_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.3600G>A (p.Ala1200=)
|
rs372882189
|
0.00019
|
NM_001009944.3(PKD1):c.6915+19C>T
|
rs371376951
|
0.00019
|
NM_001009944.3(PKD1):c.11412-6C>T
|
rs367775096
|
0.00018
|
NM_001009944.3(PKD1):c.12818G>A (p.Arg4273His)
|
rs200446880
|
0.00018
|
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His)
|
rs375198888
|
0.00018
|
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp)
|
rs746771378
|
0.00017
|
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=)
|
rs377662680
|
0.00017
|
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=)
|
rs759092782
|
0.00016
|
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.7480G>A (p.Glu2494Lys)
|
rs765009165
|
0.00016
|
NM_001009944.3(PKD1):c.10161C>T (p.His3387=)
|
rs143350197
|
0.00015
|
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=)
|
rs146103326
|
0.00015
|
NM_001009944.3(PKD1):c.543C>T (p.Val181=)
|
rs1365608859
|
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_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_001009944.3(PKD1):c.4193C>T (p.Ala1398Val)
|
rs147796956
|
0.00013
|
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser)
|
rs780408550
|
0.00013
|
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=)
|
rs183090717
|
0.00013
|
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser)
|
rs199947459
|
0.00013
|
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=)
|
rs143124196
|
0.00013
|
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val)
|
rs17135779
|
0.00013
|
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=)
|
rs372696163
|
0.00012
|
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=)
|
rs561467860
|
0.00011
|
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met)
|
rs767665300
|
0.00011
|
NM_001009944.3(PKD1):c.726T>C (p.Phe242=)
|
rs750727364
|
0.00011
|
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=)
|
rs757969966
|
0.00011
|
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.7906C>T (p.Arg2636Trp)
|
rs200907085
|
0.00010
|
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=)
|
rs142391112
|
0.00010
|
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met)
|
rs117896488
|
0.00010
|
NM_001009944.3(PKD1):c.10391C>T (p.Ser3464Phe)
|
rs375501810
|
0.00009
|
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=)
|
rs201417193
|
0.00009
|
NM_001009944.3(PKD1):c.12051G>C (p.Lys4017Asn)
|
rs151044657
|
0.00009
|
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr)
|
rs201035636
|
0.00009
|
NM_001009944.3(PKD1):c.12648A>C (p.Gln4216His)
|
rs751511886
|
0.00009
|
NM_001009944.3(PKD1):c.1673C>T (p.Thr558Met)
|
rs781572938
|
0.00009
|
NM_001009944.3(PKD1):c.5449G>A (p.Val1817Met)
|
rs149713462
|
0.00009
|
NM_001009944.3(PKD1):c.6457G>A (p.Val2153Met)
|
rs779219568
|
0.00009
|
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp)
|
rs751031560
|
0.00009
|
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=)
|
rs556575921
|
0.00009
|
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys)
|
rs374629549
|
0.00009
|
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys)
|
rs543328728
|
0.00009
|
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala)
|
rs766549097
|
0.00008
|
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe)
|
rs543561238
|
0.00008
|
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=)
|
rs146915755
|
0.00008
|
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln)
|
rs62038819
|
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_001009944.3(PKD1):c.10366G>A (p.Ala3456Thr)
|
rs370498086
|
0.00007
|
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)
|
rs374609310
|
0.00007
|
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=)
|
rs1344519371
|
0.00007
|
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser)
|
rs544092291
|
0.00007
|
NM_001009944.3(PKD1):c.6098C>T (p.Ala2033Val)
|
rs557932393
|
0.00007
|
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val)
|
rs769636582
|
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_001009944.3(PKD1):c.37C>G (p.Leu13Val)
|
rs982042024
|
0.00006
|
NM_001009944.3(PKD1):c.4019G>A (p.Arg1340Gln)
|
rs377331478
|
0.00006
|
NM_001009944.3(PKD1):c.413G>A (p.Arg138Gln)
|
rs2515725
|
0.00006
|
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
|
rs374424212
|
0.00006
|
NM_001009944.3(PKD1):c.5180C>T (p.Pro1727Leu)
|
rs373060372
|
0.00006
|
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr)
|
rs779342040
|
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.8921G>A (p.Arg2974Gln)
|
rs369012743
|
0.00006
|
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=)
|
rs748123570
|
0.00005
|
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg)
|
rs1050939771
|
0.00005
|
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser)
|
rs752995047
|
0.00005
|
NM_001009944.3(PKD1):c.4541C>G (p.Thr1514Ser)
|
rs779030441
|
0.00005
|
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=)
|
rs759043048
|
0.00005
|
NM_001009944.3(PKD1):c.4737C>T (p.Arg1579=)
|
rs765027813
|
0.00005
|
NM_001009944.3(PKD1):c.5571G>A (p.Pro1857=)
|
rs564598290
|
0.00005
|
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=)
|
rs556708086
|
0.00005
|
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu)
|
rs145762096
|
0.00005
|
NM_001009944.3(PKD1):c.6070C>T (p.Arg2024Cys)
|
rs199943712
|
0.00005
|
NM_001009944.3(PKD1):c.6227C>T (p.Ser2076Leu)
|
rs758919000
|
0.00005
|
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys)
|
rs781114712
|
0.00005
|
NM_001009944.3(PKD1):c.7466C>G (p.Thr2489Ser)
|
rs754358218
|
0.00005
|
NM_001009944.3(PKD1):c.7516G>A (p.Ala2506Thr)
|
rs755942659
|
0.00005
|
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu)
|
rs151308544
|
0.00005
|
NM_001009944.3(PKD1):c.8559C>G (p.Phe2853Leu)
|
rs757471042
|
0.00005
|
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
|
rs142733588
|
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_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.11954C>G (p.Ser3985Cys)
|
rs749274013
|
0.00004
|
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg)
|
rs776110243
|
0.00004
|
NM_001009944.3(PKD1):c.2550C>G (p.Asp850Glu)
|
rs750466610
|
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.4355C>T (p.Ser1452Phe)
|
rs767435117
|
0.00004
|
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=)
|
rs142035983
|
0.00004
|
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=)
|
rs772143717
|
0.00004
|
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro)
|
rs773527738
|
0.00004
|
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu)
|
rs767363184
|
0.00004
|
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe)
|
rs771932172
|
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.747C>T (p.Ser249=)
|
rs568816990
|
0.00004
|
NM_001009944.3(PKD1):c.7615C>G (p.Leu2539Val)
|
rs756322717
|
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.8708C>T (p.Ala2903Val)
|
rs777129763
|
0.00004
|
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=)
|
rs535771951
|
0.00004
|
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr)
|
rs533152302
|
0.00004
|
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile)
|
rs754956606
|
0.00003
|
NM_001009944.3(PKD1):c.11157-9C>G
|
rs1191413154
|
0.00003
|
NM_001009944.3(PKD1):c.11344G>A (p.Asp3782Asn)
|
rs758307192
|
0.00003
|
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile)
|
rs200120839
|
0.00003
|
NM_001009944.3(PKD1):c.11813G>A (p.Arg3938Gln)
|
rs944432348
|
0.00003
|
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)
|
rs760873748
|
0.00003
|
NM_001009944.3(PKD1):c.12039C>T (p.Ser4013=)
|
rs200796474
|
0.00003
|
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp)
|
rs889547396
|
0.00003
|
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala)
|
rs1341672915
|
0.00003
|
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)
|
rs536050342
|
0.00003
|
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser)
|
rs1320256969
|
0.00003
|
NM_001009944.3(PKD1):c.2222C>T (p.Pro741Leu)
|
rs779605081
|
0.00003
|
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)
|
rs932577597
|
0.00003
|
NM_001009944.3(PKD1):c.2396G>A (p.Arg799Gln)
|
rs766489466
|
0.00003
|
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp)
|
rs773426104
|
0.00003
|
NM_001009944.3(PKD1):c.2495G>A (p.Arg832His)
|
rs565256491
|
0.00003
|
NM_001009944.3(PKD1):c.263C>T (p.Ala88Val)
|
rs958271752
|
0.00003
|
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)
|
rs773329559
|
0.00003
|
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys)
|
rs1085307552
|
0.00003
|
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys)
|
rs770755888
|
0.00003
|
NM_001009944.3(PKD1):c.3364G>A (p.Val1122Met)
|
rs757714318
|
0.00003
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
NM_001009944.3(PKD1):c.3620G>A (p.Arg1207His)
|
rs771645362
|
0.00003
|
NM_001009944.3(PKD1):c.3768G>A (p.Pro1256=)
|
rs770836714
|
0.00003
|
NM_001009944.3(PKD1):c.3827C>T (p.Ala1276Val)
|
rs776429943
|
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.4709C>T (p.Thr1570Met)
|
rs368161263
|
0.00003
|
NM_001009944.3(PKD1):c.4918G>A (p.Gly1640Ser)
|
rs781184044
|
0.00003
|
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser)
|
rs552542784
|
0.00003
|
NM_001009944.3(PKD1):c.5132C>T (p.Thr1711Ile)
|
rs750076336
|
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.5699C>T (p.Ala1900Val)
|
rs140902597
|
0.00003
|
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
|
rs776028509
|
0.00003
|
NM_001009944.3(PKD1):c.5777C>T (p.Ala1926Val)
|
rs754890213
|
0.00003
|
NM_001009944.3(PKD1):c.6001C>T (p.Arg2001Trp)
|
rs773069152
|
0.00003
|
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr)
|
rs771364071
|
0.00003
|
NM_001009944.3(PKD1):c.6230C>T (p.Ala2077Val)
|
rs142493877
|
0.00003
|
NM_001009944.3(PKD1):c.6301C>T (p.Pro2101Ser)
|
rs145266746
|
0.00003
|
NM_001009944.3(PKD1):c.6440G>A (p.Arg2147Gln)
|
rs771035065
|
0.00003
|
NM_001009944.3(PKD1):c.6605C>T (p.Ala2202Val)
|
rs764264106
|
0.00003
|
NM_001009944.3(PKD1):c.664G>A (p.Ala222Thr)
|
rs1391867937
|
0.00003
|
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val)
|
rs761726794
|
0.00003
|
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile)
|
rs966307189
|
0.00003
|
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser)
|
rs1211697062
|
0.00003
|
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
|
rs776866974
|
0.00003
|
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val)
|
rs779137772
|
0.00003
|
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val)
|
rs780284563
|
0.00003
|
NM_001009944.3(PKD1):c.9764G>A (p.Arg3255His)
|
rs1052458360
|
0.00003
|
NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp)
|
rs980803513
|
0.00003
|
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile)
|
rs201780393
|
0.00003
|
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr)
|
rs1422578175
|
0.00003
|
NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu)
|
rs779271659
|
0.00002
|
NM_001009944.3(PKD1):c.11198C>T (p.Pro3733Leu)
|
rs2091644809
|
0.00002
|
NM_001009944.3(PKD1):c.1133A>G (p.Gln378Arg)
|
rs2092665938
|
0.00002
|
NM_001009944.3(PKD1):c.11713-3C>T
|
rs754015180
|
0.00002
|
NM_001009944.3(PKD1):c.12226C>G (p.Pro4076Ala)
|
rs375653663
|
0.00002
|
NM_001009944.3(PKD1):c.12415C>T (p.Leu4139Phe)
|
rs373984948
|
0.00002
|
NM_001009944.3(PKD1):c.12871C>A (p.Pro4291Thr)
|
rs1041724463
|
0.00002
|
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys)
|
rs765408067
|
0.00002
|
NM_001009944.3(PKD1):c.169C>T (p.Arg57Trp)
|
rs1315029199
|
0.00002
|
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)
|
rs1300272809
|
0.00002
|
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val)
|
rs775988021
|
0.00002
|
NM_001009944.3(PKD1):c.2602G>A (p.Ala868Thr)
|
rs769711984
|
0.00002
|
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=)
|
rs754575596
|
0.00002
|
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=)
|
rs776410570
|
0.00002
|
NM_001009944.3(PKD1):c.4472G>T (p.Gly1491Val)
|
rs376028977
|
0.00002
|
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln)
|
rs569887918
|
0.00002
|
NM_001009944.3(PKD1):c.5210C>T (p.Thr1737Ile)
|
rs773343118
|
0.00002
|
NM_001009944.3(PKD1):c.5362G>C (p.Gly1788Arg)
|
rs1361499651
|
0.00002
|
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu)
|
rs781681199
|
0.00002
|
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)
|
rs375006983
|
0.00002
|
NM_001009944.3(PKD1):c.7222C>T (p.Arg2408Cys)
|
rs538769374
|
0.00002
|
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly)
|
rs3874655
|
0.00002
|
NM_001009944.3(PKD1):c.788C>A (p.Thr263Asn)
|
rs900664088
|
0.00002
|
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile)
|
rs566531762
|
0.00002
|
NM_001009944.3(PKD1):c.8161+4C>T
|
rs766547394
|
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.9334T>C (p.Cys3112Arg)
|
rs1405051804
|
0.00002
|
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His)
|
rs1063405
|
0.00002
|
NM_001009944.3(PKD1):c.9713-17C>G
|
rs766238514
|
0.00002
|
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met)
|
rs1459100196
|
0.00002
|
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.10064C>T (p.Pro3355Leu)
|
rs781263445
|
0.00001
|
NM_001009944.3(PKD1):c.10453G>T (p.Ala3485Ser)
|
rs2091883615
|
0.00001
|
NM_001009944.3(PKD1):c.10481C>T (p.Thr3494Met)
|
rs752503970
|
0.00001
|
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met)
|
rs1428207672
|
0.00001
|
NM_001009944.3(PKD1):c.10904C>A (p.Ala3635Asp)
|
rs748561600
|
0.00001
|
NM_001009944.3(PKD1):c.10940G>A (p.Arg3647Gln)
|
rs1415072762
|
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.12013C>T (p.Gln4005Ter)
|
rs1567148587
|
0.00001
|
NM_001009944.3(PKD1):c.1207C>T (p.His403Tyr)
|
rs999510631
|
0.00001
|
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser)
|
rs1363663761
|
0.00001
|
NM_001009944.3(PKD1):c.12387G>A (p.Met4129Ile)
|
rs750629950
|
0.00001
|
NM_001009944.3(PKD1):c.12526C>T (p.Pro4176Ser)
|
rs755976712
|
0.00001
|
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro)
|
rs1230641065
|
0.00001
|
NM_001009944.3(PKD1):c.12758G>A (p.Arg4253Gln)
|
rs771695253
|
0.00001
|
NM_001009944.3(PKD1):c.1754G>A (p.Arg585His)
|
rs753885924
|
0.00001
|
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser)
|
rs1311664031
|
0.00001
|
NM_001009944.3(PKD1):c.2279G>T (p.Gly760Val)
|
rs759750588
|
0.00001
|
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile)
|
rs928084406
|
0.00001
|
NM_001009944.3(PKD1):c.2377C>T (p.Pro793Ser)
|
rs762974428
|
0.00001
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
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.3043C>T (p.Arg1015Trp)
|
rs751946869
|
0.00001
|
NM_001009944.3(PKD1):c.3355C>A (p.Pro1119Thr)
|
rs2092514047
|
0.00001
|
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly)
|
rs751293870
|
0.00001
|
NM_001009944.3(PKD1):c.3499T>C (p.Ser1167Pro)
|
rs769818833
|
0.00001
|
NM_001009944.3(PKD1):c.3697G>A (p.Ala1233Thr)
|
rs752993263
|
0.00001
|
NM_001009944.3(PKD1):c.3761C>T (p.Ser1254Leu)
|
rs763539652
|
0.00001
|
NM_001009944.3(PKD1):c.3767C>T (p.Pro1256Leu)
|
rs149156000
|
0.00001
|
NM_001009944.3(PKD1):c.3884A>C (p.Glu1295Ala)
|
rs746215131
|
0.00001
|
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser)
|
rs1474271392
|
0.00001
|
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys)
|
rs755462601
|
0.00001
|
NM_001009944.3(PKD1):c.4191G>T (p.Glu1397Asp)
|
rs1356967038
|
0.00001
|
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter)
|
rs1183899324
|
0.00001
|
NM_001009944.3(PKD1):c.4664C>T (p.Ala1555Val)
|
rs758865304
|
0.00001
|
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met)
|
rs2575314
|
0.00001
|
NM_001009944.3(PKD1):c.4723G>A (p.Gly1575Ser)
|
rs751223759
|
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.5122G>A (p.Ala1708Thr)
|
rs758961825
|
0.00001
|
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn)
|
rs1199050207
|
0.00001
|
NM_001009944.3(PKD1):c.5203A>T (p.Ser1735Cys)
|
rs1064796417
|
0.00001
|
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
|
rs760993331
|
0.00001
|
NM_001009944.3(PKD1):c.5284A>G (p.Thr1762Ala)
|
rs369625462
|
0.00001
|
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala)
|
rs1555459201
|
0.00001
|
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met)
|
rs1114167373
|
0.00001
|
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr)
|
rs556681288
|
0.00001
|
NM_001009944.3(PKD1):c.6178G>A (p.Ala2060Thr)
|
rs371767717
|
0.00001
|
NM_001009944.3(PKD1):c.6356A>G (p.Asp2119Gly)
|
rs755560531
|
0.00001
|
NM_001009944.3(PKD1):c.6377C>T (p.Ala2126Val)
|
rs574142158
|
0.00001
|
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val)
|
rs368987928
|
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.6771G>A (p.Val2257=)
|
rs770172913
|
0.00001
|
NM_001009944.3(PKD1):c.6952C>T (p.Arg2318Cys)
|
rs768275494
|
0.00001
|
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met)
|
rs758620810
|
0.00001
|
NM_001009944.3(PKD1):c.709C>G (p.Pro237Ala)
|
rs1350910449
|
0.00001
|
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)
|
rs1367567191
|
0.00001
|
NM_001009944.3(PKD1):c.7517C>T (p.Ala2506Val)
|
rs529669059
|
0.00001
|
NM_001009944.3(PKD1):c.7735G>A (p.Gly2579Ser)
|
rs771135962
|
0.00001
|
NM_001009944.3(PKD1):c.7775C>T (p.Thr2592Ile)
|
rs1458197743
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
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.8279T>C (p.Met2760Thr)
|
rs879809222
|
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.8688C>T (p.Ser2896=)
|
rs548736542
|
0.00001
|
NM_001009944.3(PKD1):c.8747C>T (p.Pro2916Leu)
|
rs775980046
|
0.00001
|
NM_001009944.3(PKD1):c.8791+5G>A
|
rs751652400
|
0.00001
|
NM_001009944.3(PKD1):c.8890C>T (p.Arg2964Cys)
|
rs139631668
|
0.00001
|
NM_001009944.3(PKD1):c.9034A>G (p.Thr3012Ala)
|
rs767541153
|
0.00001
|
NM_001009944.3(PKD1):c.9142C>T (p.Leu3048Phe)
|
rs1253909708
|
0.00001
|
NM_001009944.3(PKD1):c.9202-16G>A
|
rs1389523126
|
0.00001
|
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)
|
rs1358566538
|
0.00001
|
NM_001009944.3(PKD1):c.9485G>A (p.Arg3162His)
|
rs1189208643
|
0.00001
|
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp)
|
rs1384099162
|
0.00001
|
NM_001009944.3(PKD1):c.9659C>T (p.Ser3220Leu)
|
rs144246138
|
0.00001
|
NM_001009944.3(PKD1):c.9679G>A (p.Gly3227Arg)
|
rs1459262773
|
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_001009944.3(PKD1):c.9815G>A (p.Arg3272His)
|
rs1452116333
|
0.00001
|
NM_001009944.3(PKD1):c.9873C>G (p.Phe3291Leu)
|
rs767268955
|
0.00001
|
NM_001009944.3(PKD1):c.9885C>T (p.Asn3295=)
|
rs764028566
|
0.00001
|
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)
|
rs773798664
|
0.00001
|
NM_001009944.3(PKD1):c.9994G>T (p.Val3332Phe)
|
rs1272713748
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
|
|
|
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
|
|
|
NM_001009944.3(PKD1):c.10032C>T (p.Phe3344=)
|
|
|
NM_001009944.3(PKD1):c.10034G>A (p.Arg3345Gln)
|
|
|
NM_001009944.3(PKD1):c.1004C>T (p.Ala335Val)
|
|
|
NM_001009944.3(PKD1):c.10051-10C>A
|
rs3874642
|
|
NM_001009944.3(PKD1):c.10051-2A>G
|
|
|
NM_001009944.3(PKD1):c.10051-3C>G
|
rs980155038
|
|
NM_001009944.3(PKD1):c.10054G>A (p.Ala3352Thr)
|
|
|
NM_001009944.3(PKD1):c.10057G>A (p.Gly3353Arg)
|
|
|
NM_001009944.3(PKD1):c.10076del (p.Pro3359fs)
|
|
|
NM_001009944.3(PKD1):c.10082G>A (p.Gly3361Glu)
|
|
|
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter)
|
rs1567166045
|
|
NM_001009944.3(PKD1):c.10085A>G (p.Gln3362Arg)
|
|
|
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs)
|
rs1567165997
|
|
NM_001009944.3(PKD1):c.10098C>G (p.Asp3366Glu)
|
|
|
NM_001009944.3(PKD1):c.10123G>A (p.Val3375Met)
|
|
|
NM_001009944.3(PKD1):c.10128G>A (p.Leu3376=)
|
|
|
NM_001009944.3(PKD1):c.10136C>T (p.Ser3379Phe)
|
|
|
NM_001009944.3(PKD1):c.10149C>T (p.Phe3383=)
|
|
|
NM_001009944.3(PKD1):c.10168-12_10168-11del
|
|
|
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter)
|
rs2151728536
|
|
NM_001009944.3(PKD1):c.10168_10170del
|
|
|
NM_001009944.3(PKD1):c.10183C>T (p.Gln3395Ter)
|
|
|
NM_001009944.3(PKD1):c.10220+1G>C
|
|
|
NM_001009944.3(PKD1):c.10220+4G>C
|
|
|
NM_001009944.3(PKD1):c.10221-3C>T
|
|
|
NM_001009944.3(PKD1):c.10233del (p.Trp3411fs)
|
rs1596501760
|
|
NM_001009944.3(PKD1):c.10234C>A (p.Pro3412Thr)
|
|
|
NM_001009944.3(PKD1):c.10238C>T (p.Ser3413Phe)
|
|
|
NM_001009944.3(PKD1):c.10248A>T (p.Gly3416=)
|
|
|
NM_001009944.3(PKD1):c.10249A>G (p.Thr3417Ala)
|
|
|
NM_001009944.3(PKD1):c.10249delinsGTT (p.Thr3417fs)
|
|
|
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter)
|
rs2151727019
|
|
NM_001009944.3(PKD1):c.10273A>G (p.Ser3425Gly)
|
|
|
NM_001009944.3(PKD1):c.10280_10289del (p.Pro3427fs)
|
|
|
NM_001009944.3(PKD1):c.1028C>T (p.Ser343Leu)
|
|
|
NM_001009944.3(PKD1):c.10290G>A (p.Val3430=)
|
rs2544688515
|
|
NM_001009944.3(PKD1):c.10292del (p.Gly3431fs)
|
|
|
NM_001009944.3(PKD1):c.102del (p.Glu34fs)
|
|
|
NM_001009944.3(PKD1):c.10348G>A (p.Glu3450Lys)
|
|
|
NM_001009944.3(PKD1):c.10350G>C (p.Glu3450Asp)
|
|
|
NM_001009944.3(PKD1):c.10354G>T (p.Gly3452Cys)
|
|
|
NM_001009944.3(PKD1):c.10373C>T (p.Pro3458Leu)
|
|
|
NM_001009944.3(PKD1):c.10395C>T (p.Phe3465=)
|
|
|
NM_001009944.3(PKD1):c.10397C>G (p.Ser3466Ter)
|
rs147464577
|
|
NM_001009944.3(PKD1):c.103_104delinsA (p.Pro35fs)
|
|
|
NM_001009944.3(PKD1):c.10405+9G>A
|
|
|
NM_001009944.3(PKD1):c.10405G>A (p.Asp3469Asn)
|
|
|
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)
|
rs1064794206
|
|
NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile)
|
rs776616291
|
|
NM_001009944.3(PKD1):c.10433C>T (p.Ala3478Val)
|
rs2544685787
|
|
NM_001009944.3(PKD1):c.10441G>T (p.Val3481Phe)
|
|
|
NM_001009944.3(PKD1):c.10447A>G (p.Ser3483Gly)
|
|
|
NM_001009944.3(PKD1):c.10450C>G (p.Pro3484Ala)
|
|
|
NM_001009944.3(PKD1):c.10451C>G (p.Pro3484Arg)
|
|
|
NM_001009944.3(PKD1):c.10454C>T (p.Ala3485Val)
|
|
|
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)
|
rs1385274120
|
|
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs)
|
rs2091883381
|
|
NM_001009944.3(PKD1):c.10472A>G (p.His3491Arg)
|
|
|
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg)
|
rs752503970
|
|
NM_001009944.3(PKD1):c.1048G>A (p.Val350Met)
|
|
|
NM_001009944.3(PKD1):c.10510C>T (p.Pro3504Ser)
|
|
|
NM_001009944.3(PKD1):c.10511C>T (p.Pro3504Leu)
|
|
|
NM_001009944.3(PKD1):c.10513G>T (p.Gly3505Trp)
|
|
|
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs)
|
rs2151710519
|
|
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)
|
rs1378307448
|
|
NM_001009944.3(PKD1):c.10550_10551insCCA (p.Gly3517_Glu3518insGln)
|
|
|
NM_001009944.3(PKD1):c.10552G>T (p.Glu3518Ter)
|
|
|
NM_001009944.3(PKD1):c.10552del (p.Glu3518fs)
|
|
|
NM_001009944.3(PKD1):c.10570C>T (p.Pro3524Ser)
|
|
|
NM_001009944.3(PKD1):c.10571C>T (p.Pro3524Leu)
|
|
|
NM_001009944.3(PKD1):c.10576C>G (p.Leu3526Val)
|
|
|
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=)
|
rs745763060
|
|
NM_001009944.3(PKD1):c.1057G>T (p.Glu353Ter)
|
|
|
NM_001009944.3(PKD1):c.10598_10614del (p.Ala3533fs)
|
|
|
NM_001009944.3(PKD1):c.10622dup (p.Val3542fs)
|
|
|
NM_001009944.3(PKD1):c.10626G>A (p.Val3542=)
|
|
|
NM_001009944.3(PKD1):c.10636C>T (p.Arg3546Trp)
|
|
|
NM_001009944.3(PKD1):c.10642C>T (p.Arg3548Cys)
|
|
|
NM_001009944.3(PKD1):c.10652_10662del (p.Pro3551fs)
|
|
|
NM_001009944.3(PKD1):c.10653_10665dup (p.Ser3556fs)
|
|
|
NM_001009944.3(PKD1):c.10657T>C (p.Trp3553Arg)
|
|
|
NM_001009944.3(PKD1):c.10659G>C (p.Trp3553Cys)
|
|
|
NM_001009944.3(PKD1):c.10669del (p.Leu3557fs)
|
|
|
NM_001009944.3(PKD1):c.1067C>T (p.Pro356Leu)
|
|
|
NM_001009944.3(PKD1):c.10680del (p.Leu3561fs)
|
|
|
NM_001009944.3(PKD1):c.10691_10692del (p.Leu3564fs)
|
|
|
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.1069_1072delinsACCA (p.Ala357_Ala358delinsThrThr)
|
|
|
NM_001009944.3(PKD1):c.10708G>A (p.Val3570Met)
|
|
|
NM_001009944.3(PKD1):c.10709_10710del (p.Val3570fs)
|
|
|
NM_001009944.3(PKD1):c.10712C>G (p.Ala3571Gly)
|
|
|
NM_001009944.3(PKD1):c.10723dup (p.Trp3575fs)
|
|
|
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter)
|
rs1361283193
|
|
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter)
|
rs1177764199
|
|
NM_001009944.3(PKD1):c.10739_10740dup (p.Pro3581fs)
|
|
|
NM_001009944.3(PKD1):c.1073C>T (p.Ala358Val)
|
|
|
NM_001009944.3(PKD1):c.10742C>T (p.Pro3581Leu)
|
|
|
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)
|
rs1555447011
|
|
NM_001009944.3(PKD1):c.10747G>A (p.Gly3583Ser)
|
|
|
NM_001009944.3(PKD1):c.10751dup (p.Ser3585fs)
|
|
|
NM_001009944.3(PKD1):c.10759dup (p.Ala3587fs)
|
|
|
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe)
|
rs2091723749
|
|
NM_001009944.3(PKD1):c.10776C>G (p.Ser3592Arg)
|
|
|
NM_001009944.3(PKD1):c.10778G>C (p.Ser3593Thr)
|
|
|
NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu)
|
rs2544650057
|
|
NM_001009944.3(PKD1):c.10804G>C (p.Gly3602Arg)
|
|
|
NM_001009944.3(PKD1):c.10814C>T (p.Pro3605Leu)
|
|
|
NM_001009944.3(PKD1):c.10834G>A (p.Ala3612Thr)
|
|
|
NM_001009944.3(PKD1):c.10842C>A (p.Tyr3614Ter)
|
|
|
NM_001009944.3(PKD1):c.10849C>G (p.Leu3617Val)
|
|
|
NM_001009944.3(PKD1):c.10871C>T (p.Pro3624Leu)
|
rs764059379
|
|
NM_001009944.3(PKD1):c.10880A>G (p.Asp3627Gly)
|
|
|
NM_001009944.3(PKD1):c.108del (p.Cys37fs)
|
rs2092941062
|
|
NM_001009944.3(PKD1):c.108dup (p.Cys37fs)
|
|
|
NM_001009944.3(PKD1):c.1091dup (p.Ser365fs)
|
|
|
NM_001009944.3(PKD1):c.10921G>A (p.Ala3641Thr)
|
|
|
NM_001009944.3(PKD1):c.10934G>A (p.Arg3645His)
|
|
|
NM_001009944.3(PKD1):c.10948C>A (p.His3650Asn)
|
|
|
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser)
|
rs2091705970
|
|
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val)
|
rs1483214870
|
|
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val)
|
rs2544646868
|
|
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs)
|
rs2544646762
|
|
NM_001009944.3(PKD1):c.10974G>T (p.Lys3658Asn)
|
|
|
NM_001009944.3(PKD1):c.1097C>T (p.Ser366Leu)
|
|
|
NM_001009944.3(PKD1):c.10984C>T (p.Arg3662Cys)
|
|
|
NM_001009944.3(PKD1):c.10993_10994del (p.Lys3665fs)
|
|
|
NM_001009944.3(PKD1):c.109del (p.Cys37fs)
|
rs2151858299
|
|
NM_001009944.3(PKD1):c.11002C>T (p.His3668Tyr)
|
|
|
NM_001009944.3(PKD1):c.11004T>A (p.His3668Gln)
|
|
|
NM_001009944.3(PKD1):c.11005G>C (p.Gly3669Arg)
|
|
|
NM_001009944.3(PKD1):c.11007C>T (p.Gly3669=)
|
rs2544646197
|
|
NM_001009944.3(PKD1):c.11016+1G>C
|
|
|
NM_001009944.3(PKD1):c.11016+7C>G
|
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
NM_001009944.3(PKD1):c.11017-12C>G
|
|
|
NM_001009944.3(PKD1):c.11017-1G>C
|
|
|
NM_001009944.3(PKD1):c.11032A>G (p.Met3678Val)
|
|
|
NM_001009944.3(PKD1):c.11035C>G (p.Leu3679Val)
|
|
|
NM_001009944.3(PKD1):c.1105_1106del (p.Gln368_Ser369insTer)
|
rs2544877719
|
|
NM_001009944.3(PKD1):c.11071_11088dup (p.Gly3696_His3697insAspAlaSerCysHisGly)
|
|
|
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs)
|
rs2091670117
|
|
NM_001009944.3(PKD1):c.11082C>G (p.Cys3694Trp)
|
|
|
NM_001009944.3(PKD1):c.11088del (p.His3697fs)
|
|
|
NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys)
|
rs758831274
|
|
NM_001009944.3(PKD1):c.11099G>T (p.Arg3700Leu)
|
|
|
NM_001009944.3(PKD1):c.1111G>T (p.Glu371Ter)
|
|
|
NM_001009944.3(PKD1):c.11122_11156+1del
|
|
|
NM_001009944.3(PKD1):c.11123A>C (p.Glu3708Ala)
|
|
|
NM_001009944.3(PKD1):c.11144T>G (p.Leu3715Arg)
|
|
|
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.11188G>A (p.Val3730Met)
|
|
|
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs)
|
rs1567155179
|
|
NM_001009944.3(PKD1):c.11201A>G (p.Tyr3734Cys)
|
|
|
NM_001009944.3(PKD1):c.11209_11210inv (p.Gly3737Pro)
|
|
|
NM_001009944.3(PKD1):c.11239C>T (p.Pro3747Ser)
|
|
|
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.11269+3G>C
|
|
|
NM_001009944.3(PKD1):c.11269+6C>T
|
|
|
NM_001009944.3(PKD1):c.11270-1G>T
|
|
|
NM_001009944.3(PKD1):c.11270-6T>G
|
|
|
NM_001009944.3(PKD1):c.11275T>C (p.Tyr3759His)
|
|
|
NM_001009944.3(PKD1):c.11285C>T (p.Pro3762Leu)
|
|
|
NM_001009944.3(PKD1):c.11290G>A (p.Gly3764Ser)
|
|
|
NM_001009944.3(PKD1):c.11297G>A (p.Arg3766Lys)
|
|
|
NM_001009944.3(PKD1):c.11308_11312dup (p.Ala3773fs)
|
|
|
NM_001009944.3(PKD1):c.11316C>A (p.Ala3772=)
|
|
|
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)
|
rs201085734
|
|
NM_001009944.3(PKD1):c.11317G>A (p.Ala3773Thr)
|
|
|
NM_001009944.3(PKD1):c.11338G>A (p.Asp3780Asn)
|
|
|
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del)
|
rs2091618795
|
|
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup)
|
rs2091618795
|
|
NM_001009944.3(PKD1):c.11342ACG[1] (p.Asp3782del)
|
|
|
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)
|
rs2091619053
|
|
NM_001009944.3(PKD1):c.11346del (p.Asp3782fs)
|
|
|
NM_001009944.3(PKD1):c.11347G>C (p.Val3783Leu)
|
rs200120839
|
|
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val)
|
rs142455071
|
|
NM_001009944.3(PKD1):c.11352_11355dup (p.Glu3786fs)
|
|
|
NM_001009944.3(PKD1):c.11361T>A (p.Ser3787Arg)
|
|
|
NM_001009944.3(PKD1):c.11366_11369del (p.His3789fs)
|
|
|
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)
|
rs1567153758
|
|
NM_001009944.3(PKD1):c.11381C>G (p.Thr3794Arg)
|
|
|
NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs)
|
rs2544624546
|
|
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys)
|
rs138629093
|
|
NM_001009944.3(PKD1):c.11396C>A (p.Ala3799Glu)
|
|
|
NM_001009944.3(PKD1):c.1139G>A (p.Arg380His)
|
|
|
NM_001009944.3(PKD1):c.11410G>C (p.Gly3804Arg)
|
|
|
NM_001009944.3(PKD1):c.11411+1G>C
|
rs2091612821
|
|
NM_001009944.3(PKD1):c.11411+1G>T
|
|
|
NM_001009944.3(PKD1):c.11411+2T>C
|
|
|
NM_001009944.3(PKD1):c.11412-1G>A
|
|
|
NM_001009944.3(PKD1):c.11412-7C>A
|
|
|
NM_001009944.3(PKD1):c.11412-7C>T
|
rs553377243
|
|
NM_001009944.3(PKD1):c.11418G>C (p.Trp3806Cys)
|
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11426G>A (p.Gly3809Asp)
|
rs2854584
|
|
NM_001009944.3(PKD1):c.11431T>C (p.Cys3811Arg)
|
|
|
NM_001009944.3(PKD1):c.11443del (p.Asp3815fs)
|
|
|
NM_001009944.3(PKD1):c.11450G>C (p.Gly3817Ala)
|
|
|
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.11453dup (p.Tyr3819fs)
|
rs1567153194
|
|
NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)
|
|
|
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.11458G>A (p.Val3820Met)
|
|
|
NM_001009944.3(PKD1):c.11485G>A (p.Glu3829Lys)
|
|
|
NM_001009944.3(PKD1):c.11491C>T (p.Arg3831Cys)
|
|
|
NM_001009944.3(PKD1):c.11492G>A (p.Arg3831His)
|
|
|
NM_001009944.3(PKD1):c.11502_11506del (p.Arg3835fs)
|
|
|
NM_001009944.3(PKD1):c.1150G>T (p.Gly384Cys)
|
|
|
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)
|
rs199476096
|
|
NM_001009944.3(PKD1):c.11522A>G (p.Asn3841Ser)
|
|
|
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)
|
rs1596481464
|
|
NM_001009944.3(PKD1):c.11527C>T (p.Leu3843=)
|
|
|
NM_001009944.3(PKD1):c.11537+2T>A
|
rs2151697557
|
|
NM_001009944.3(PKD1):c.11538-4G>T
|
rs763279854
|
|
NM_001009944.3(PKD1):c.11538-5C>G
|
|
|
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro)
|
rs2092665731
|
|
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.11564C>A (p.Thr3855Lys)
|
|
|
NM_001009944.3(PKD1):c.1156G>A (p.Glu386Lys)
|
|
|
NM_001009944.3(PKD1):c.11579_11582del (p.Ala3860fs)
|
|
|
NM_001009944.3(PKD1):c.11580_11581delinsT (p.Val3861fs)
|
|
|
NM_001009944.3(PKD1):c.11591dup (p.His3864fs)
|
|
|
NM_001009944.3(PKD1):c.11595_11605dup (p.Leu3869fs)
|
|
|
NM_001009944.3(PKD1):c.11599G>A (p.Val3867Ile)
|
|
|
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro)
|
rs1555445569
|
|
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg)
|
rs1555445569
|
|
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln)
|
rs2091577195
|
|
NM_001009944.3(PKD1):c.11617T>C (p.Phe3873Leu)
|
|
|
NM_001009944.3(PKD1):c.11642C>A (p.Ala3881Asp)
|
rs2544614386
|
|
NM_001009944.3(PKD1):c.1165_1167delinsAT (p.Tyr389fs)
|
|
|
NM_001009944.3(PKD1):c.11683G>A (p.Ala3895Thr)
|
|
|
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.11699C>T (p.Pro3900Leu)
|
|
|
NM_001009944.3(PKD1):c.1169G>A (p.Ser390Asn)
|
|
|
NM_001009944.3(PKD1):c.116G>A (p.Cys39Tyr)
|
rs2151858290
|
|
NM_001009944.3(PKD1):c.11708C>G (p.Thr3903Ser)
|
|
|
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp)
|
rs2091571469
|
|
NM_001009944.3(PKD1):c.11713-1G>T
|
|
|
NM_001009944.3(PKD1):c.11713-2A>T
|
|
|
NM_001009944.3(PKD1):c.11713-2_11718dup
|
|
|
NM_001009944.3(PKD1):c.11713-6C>G
|
|
|
NM_001009944.3(PKD1):c.11720T>G (p.Leu3907Arg)
|
|
|
NM_001009944.3(PKD1):c.11726_11733delinsGCAGCAGGCGAAGTGGCAGCA (p.Leu3909fs)
|
|
|
NM_001009944.3(PKD1):c.11728T>C (p.Phe3910Leu)
|
|
|
NM_001009944.3(PKD1):c.11729delinsGCA (p.Phe3910fs)
|
|
|
NM_001009944.3(PKD1):c.11741T>C (p.Phe3914Ser)
|
|
|
NM_001009944.3(PKD1):c.11745C>A (p.Ala3915=)
|
|
|
NM_001009944.3(PKD1):c.11749G>T (p.Ala3917Ser)
|
|
|
NM_001009944.3(PKD1):c.11751C>A (p.Ala3917=)
|
|
|
NM_001009944.3(PKD1):c.11752G>A (p.Glu3918Lys)
|
|
|
NM_001009944.3(PKD1):c.11765G>A (p.Trp3922Ter)
|
|
|
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter)
|
rs2091498706
|
|
NM_001009944.3(PKD1):c.11779C>T (p.Arg3927Cys)
|
|
|
NM_001009944.3(PKD1):c.11797del (p.Leu3933fs)
|
|
|
NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)
|
|
|
NM_001009944.3(PKD1):c.11803G>A (p.Ala3935Thr)
|
|
|
NM_001009944.3(PKD1):c.11837C>A (p.Ala3946Glu)
|
|
|
NM_001009944.3(PKD1):c.11837C>T (p.Ala3946Val)
|
|
|
NM_001009944.3(PKD1):c.11839G>C (p.Ala3947Pro)
|
|
|
NM_001009944.3(PKD1):c.1183_1195dup (p.Ala399fs)
|
|
|
NM_001009944.3(PKD1):c.11843C>G (p.Thr3948Arg)
|
rs2544598854
|
|
NM_001009944.3(PKD1):c.11855G>A (p.Arg3952His)
|
|
|
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro)
|
rs1424496188
|
|
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)
|
rs2091493090
|
|
NM_001009944.3(PKD1):c.11864A>G (p.Gln3955Arg)
|
|
|
NM_001009944.3(PKD1):c.11864_11865delinsC (p.Gln3955fs)
|
|
|
NM_001009944.3(PKD1):c.1186G>A (p.Glu396Lys)
|
|
|
NM_001009944.3(PKD1):c.11875G>A (p.Ala3959Thr)
|
|
|
NM_001009944.3(PKD1):c.11882G>T (p.Arg3961Leu)
|
|
|
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)
|
rs1596476503
|
|
NM_001009944.3(PKD1):c.11888G>A (p.Trp3963Ter)
|
|
|
NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)
|
|
|
NM_001009944.3(PKD1):c.11906G>C (p.Gly3969Ala)
|
|
|
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=)
|
rs77634115
|
|
NM_001009944.3(PKD1):c.11917C>A (p.Arg3973Ser)
|
|
|
NM_001009944.3(PKD1):c.11926A>G (p.Ser3976Gly)
|
|
|
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)
|
rs1161012209
|
|
NM_001009944.3(PKD1):c.11948T>C (p.Leu3983Pro)
|
|
|
NM_001009944.3(PKD1):c.11962dup (p.Arg3988fs)
|
|
|
NM_001009944.3(PKD1):c.11966G>C (p.Gly3989Ala)
|
|
|
NM_001009944.3(PKD1):c.11987_11988insA (p.Phe3996fs)
|
|
|
NM_001009944.3(PKD1):c.1199G>A (p.Arg400Gln)
|
|
|
NM_001009944.3(PKD1):c.1199G>T (p.Arg400Leu)
|
|
|
NM_001009944.3(PKD1):c.12003+1G>C
|
|
|
NM_001009944.3(PKD1):c.12003+1G>T
|
|
|
NM_001009944.3(PKD1):c.12004-2A>C
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.12004-2A>G
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.12004-3C>T
|
|
|
NM_001009944.3(PKD1):c.12008C>T (p.Ala4003Val)
|
|
|
NM_001009944.3(PKD1):c.1201+5G>A
|
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.1202-10C>G
|
|
|
NM_001009944.3(PKD1):c.1202-11C>G
|
|
|
NM_001009944.3(PKD1):c.1202-1G>A
|
rs2151822688
|
|
NM_001009944.3(PKD1):c.1202-9G>A
|
rs1596588606
|
|
NM_001009944.3(PKD1):c.12022T>C (p.Phe4008Leu)
|
|
|
NM_001009944.3(PKD1):c.12025G>C (p.Val4009Leu)
|
|
|
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)
|
rs1555444985
|
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NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
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NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter)
|
rs1218054241
|
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NM_001009944.3(PKD1):c.1203G>A (p.Ala401=)
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NM_001009944.3(PKD1):c.12053C>T (p.Thr4018Ile)
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NM_001009944.3(PKD1):c.12078_12080del (p.Leu4027del)
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NM_001009944.3(PKD1):c.12095G>T (p.Gly4032Val)
|
rs142768096
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NM_001009944.3(PKD1):c.12105G>A (p.Val4035=)
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NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg)
|
rs767579073
|
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NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)
|
rs199476094
|
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NM_001009944.3(PKD1):c.12136C>G (p.Leu4046Val)
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NM_001009944.3(PKD1):c.12139-1G>A
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NM_001009944.3(PKD1):c.12148del (p.Ser4050fs)
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NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe)
|
rs186160250
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NM_001009944.3(PKD1):c.12155T>A (p.Val4052Glu)
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NM_001009944.3(PKD1):c.12162_12165del (p.Leu4055fs)
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NM_001009944.3(PKD1):c.12181del (p.Ala4061fs)
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NM_001009944.3(PKD1):c.121C>T (p.Pro41Ser)
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NM_001009944.3(PKD1):c.12206C>T (p.Thr4069Ile)
|
rs1335991596
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NM_001009944.3(PKD1):c.12218C>G (p.Thr4073Ser)
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NM_001009944.3(PKD1):c.12220_12221del (p.Leu4074fs)
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NM_001009944.3(PKD1):c.12221dup (p.Cys4075fs)
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NM_001009944.3(PKD1):c.12229G>T (p.Ala4077Ser)
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NM_001009944.3(PKD1):c.12246_12247del (p.Ser4083fs)
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NM_001009944.3(PKD1):c.12262G>T (p.Val4088Leu)
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NM_001009944.3(PKD1):c.12298C>T (p.Arg4100Trp)
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NM_001009944.3(PKD1):c.12308C>T (p.Ala4103Val)
|
rs746646395
|
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NM_001009944.3(PKD1):c.1230G>A (p.Thr410=)
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NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)
|
rs1060499718
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NM_001009944.3(PKD1):c.12313A>G (p.Ile4105Val)
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NM_001009944.3(PKD1):c.12319C>T (p.Arg4107Cys)
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NM_001009944.3(PKD1):c.12323G>A (p.Trp4108Ter)
|
rs2544586222
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NM_001009944.3(PKD1):c.12329A>T (p.Tyr4110Phe)
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NM_001009944.3(PKD1):c.12332A>G (p.His4111Arg)
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NM_001009944.3(PKD1):c.12332_12336del (p.His4111fs)
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NM_001009944.3(PKD1):c.12357del (p.Pro4120fs)
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NM_001009944.3(PKD1):c.12359C>T (p.Pro4120Leu)
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NM_001009944.3(PKD1):c.12369G>A (p.Glu4123=)
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NM_001009944.3(PKD1):c.12370C>A (p.Pro4124Thr)
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NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)
|
rs2091437893
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NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter)
|
rs756212622
|
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NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs)
|
rs2151680679
|
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NM_001009944.3(PKD1):c.12386T>G (p.Met4129Arg)
|
rs2091436717
|
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NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del)
|
rs2544585102
|
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NM_001009944.3(PKD1):c.12387G>C (p.Met4129Ile)
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NM_001009944.3(PKD1):c.12389T>C (p.Val4130Ala)
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NM_001009944.3(PKD1):c.12391_12392delinsTT (p.Glu4131Leu)
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NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)
|
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NM_001009944.3(PKD1):c.12410T>C (p.Leu4137Pro)
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NM_001009944.3(PKD1):c.12431G>C (p.Ser4144Thr)
|
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NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)
|
rs1282668884
|
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NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His)
|
rs36221080
|
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NM_001009944.3(PKD1):c.12463T>C (p.Phe4155Leu)
|
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NM_001009944.3(PKD1):c.12475G>T (p.Glu4159Ter)
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NM_001009944.3(PKD1):c.12478C>T (p.Pro4160Ser)
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NM_001009944.3(PKD1):c.12479C>G (p.Pro4160Arg)
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NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
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NM_001009944.3(PKD1):c.1249G>A (p.Gly417Arg)
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NM_001009944.3(PKD1):c.12501G>A (p.Arg4167=)
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NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)
|
rs1555444225
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NM_001009944.3(PKD1):c.12525G>C (p.Val4175=)
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NM_001009944.3(PKD1):c.12531del (p.Ser4179fs)
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NM_001009944.3(PKD1):c.1253A>C (p.His418Pro)
|
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NM_001009944.3(PKD1):c.1254dup (p.Cys419fs)
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NM_001009944.3(PKD1):c.12554C>T (p.Ser4185Leu)
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NM_001009944.3(PKD1):c.12557A>C (p.His4186Pro)
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NM_001009944.3(PKD1):c.12557A>G (p.His4186Arg)
|
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NM_001009944.3(PKD1):c.12565_12568delinsTCCA (p.Thr4189_Ser4190delinsSerThr)
|
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NM_001009944.3(PKD1):c.12566C>T (p.Thr4189Ile)
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NM_001009944.3(PKD1):c.12568T>A (p.Ser4190Thr)
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NM_001009944.3(PKD1):c.12574A>C (p.Ser4192Arg)
|
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|
NM_001009944.3(PKD1):c.12581dup (p.Asp4195fs)
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NM_001009944.3(PKD1):c.12586_12589del (p.Asp4195_Gly4196insTer)
|
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NM_001009944.3(PKD1):c.1258T>C (p.Tyr420His)
|
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NM_001009944.3(PKD1):c.12590T>C (p.Leu4197Pro)
|
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NM_001009944.3(PKD1):c.12602T>C (p.Leu4201Pro)
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|
|
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
|
rs2544578227
|
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NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)
|
rs1567216536
|
|
NM_001009944.3(PKD1):c.12624_12625dup (p.Glu4209fs)
|
|
|
NM_001009944.3(PKD1):c.12628C>T (p.Pro4210Ser)
|
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|
NM_001009944.3(PKD1):c.12632A>G (p.Glu4211Gly)
|
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|
NM_001009944.3(PKD1):c.12641G>A (p.Arg4214His)
|
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|
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe)
|
rs757068311
|
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NM_001009944.3(PKD1):c.12646C>T (p.Gln4216Ter)
|
|
|
NM_001009944.3(PKD1):c.12656dup (p.Glu4220fs)
|
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NM_001009944.3(PKD1):c.12657_12658delinsAT (p.Phe4219_Glu4220delinsLeuTer)
|
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NM_001009944.3(PKD1):c.12658G>A (p.Glu4220Lys)
|
|
|
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter)
|
rs2091395464
|
|
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)
|
rs199476095
|
|
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro)
|
rs1064797205
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12703G>A (p.Asp4235Asn)
|
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
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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.12739C>T (p.Gln4247Ter)
|
rs2091390332
|
|
NM_001009944.3(PKD1):c.12779G>A (p.Arg4260His)
|
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|
NM_001009944.3(PKD1):c.12779G>C (p.Arg4260Pro)
|
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NM_001009944.3(PKD1):c.1277dup (p.Ala427fs)
|
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NM_001009944.3(PKD1):c.12784C>T (p.Pro4262Ser)
|
|
|
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln)
|
rs1188304476
|
|
NM_001009944.3(PKD1):c.12830C>A (p.Ala4277Asp)
|
|
|
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=)
|
rs375443308
|
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NM_001009944.3(PKD1):c.12845A>C (p.Asp4282Ala)
|
|
|
NM_001009944.3(PKD1):c.12850G>A (p.Ala4284Thr)
|
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|
NM_001009944.3(PKD1):c.12851C>T (p.Ala4284Val)
|
|
|
NM_001009944.3(PKD1):c.12867_12905dup (p.Ser4301_Ser4302insArgThrProLeuArgAlaLysAsnLysValHisProSer)
|
|
|
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.1295C>T (p.Ala432Val)
|
rs1060499699
|
|
NM_001009944.3(PKD1):c.1313C>T (p.Ala438Val)
|
|
|
NM_001009944.3(PKD1):c.1326del (p.Ala443fs)
|
rs2151822381
|
|
NM_001009944.3(PKD1):c.1334C>T (p.Ala445Val)
|
|
|
NM_001009944.3(PKD1):c.1355_1361del (p.Val452fs)
|
|
|
NM_001009944.3(PKD1):c.1357C>T (p.Gln453Ter)
|
|
|
NM_001009944.3(PKD1):c.1375C>A (p.Arg459=)
|
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NM_001009944.3(PKD1):c.1386-11C>T
|
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|
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
|
|
|
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)
|
rs2855341
|
|
NM_001009944.3(PKD1):c.1396G>C (p.Val466Leu)
|
|
|
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs)
|
rs1555462463
|
|
NM_001009944.3(PKD1):c.1412C>T (p.Ser471Leu)
|
|
|
NM_001009944.3(PKD1):c.1416T>A (p.Thr472=)
|
|
|
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs)
|
rs2151820943
|
|
NM_001009944.3(PKD1):c.1430A>T (p.Glu477Val)
|
|
|
NM_001009944.3(PKD1):c.1437C>T (p.Gly479=)
|
|
|
NM_001009944.3(PKD1):c.1439C>T (p.Pro480Leu)
|
|
|
NM_001009944.3(PKD1):c.1441G>T (p.Ala481Ser)
|
|
|
NM_001009944.3(PKD1):c.1451G>A (p.Gly484Asp)
|
|
|
NM_001009944.3(PKD1):c.146T>A (p.Val49Asp)
|
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|
NM_001009944.3(PKD1):c.1488delinsTC (p.Gly498fs)
|
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|
NM_001009944.3(PKD1):c.149A>G (p.Asn50Ser)
|
|
|
NM_001009944.3(PKD1):c.1505del (p.Pro502fs)
|
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|
NM_001009944.3(PKD1):c.1516G>A (p.Glu506Lys)
|
|
|
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)
|
rs58598099
|
|
NM_001009944.3(PKD1):c.1524C>A (p.Cys508Ter)
|
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|
NM_001009944.3(PKD1):c.1525G>A (p.Val509Ile)
|
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|
NM_001009944.3(PKD1):c.1529G>A (p.Arg510Gln)
|
|
|
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro)
|
rs1293305047
|
|
NM_001009944.3(PKD1):c.1532T>G (p.Leu511Arg)
|
|
|
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs)
|
rs2151820655
|
|
NM_001009944.3(PKD1):c.1547G>A (p.Trp516Ter)
|
|
|
NM_001009944.3(PKD1):c.1561C>G (p.Leu521Val)
|
|
|
NM_001009944.3(PKD1):c.1564_1565del (p.Cys522fs)
|
|
|
NM_001009944.3(PKD1):c.1567T>C (p.Ser523Pro)
|
|
|
NM_001009944.3(PKD1):c.1568C>G (p.Ser523Ter)
|
|
|
NM_001009944.3(PKD1):c.1568C>T (p.Ser523Leu)
|
|
|
NM_001009944.3(PKD1):c.1574C>G (p.Pro525Arg)
|
|
|
NM_001009944.3(PKD1):c.1580G>C (p.Ser527Thr)
|
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|
NM_001009944.3(PKD1):c.1582T>G (p.Tyr528Asp)
|
|
|
NM_001009944.3(PKD1):c.1585G>A (p.Val529Ile)
|
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|
NM_001009944.3(PKD1):c.1595_1598dup (p.Gln533fs)
|
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|
NM_001009944.3(PKD1):c.1606+1G>A
|
rs2151820539
|
|
NM_001009944.3(PKD1):c.1606+6C>T
|
|
|
NM_001009944.3(PKD1):c.160C>G (p.Arg54Gly)
|
|
|
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs)
|
rs3072277
|
|
NM_001009944.3(PKD1):c.1616A>G (p.Gln539Arg)
|
|
|
NM_001009944.3(PKD1):c.1616A>T (p.Gln539Leu)
|
|
|
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His)
|
rs1382845038
|
|
NM_001009944.3(PKD1):c.1640del (p.Gly547fs)
|
|
|
NM_001009944.3(PKD1):c.1654G>A (p.Asp552Asn)
|
|
|
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)
|
rs1555462438
|
|
NM_001009944.3(PKD1):c.1676C>G (p.Pro559Arg)
|
|
|
NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg)
|
rs1185676416
|
|
NM_001009944.3(PKD1):c.1687C>G (p.Gln563Glu)
|
|
|
NM_001009944.3(PKD1):c.1699_1700del (p.Ala568fs)
|
rs2544869651
|
|
NM_001009944.3(PKD1):c.1706C>T (p.Pro569Leu)
|
|
|
NM_001009944.3(PKD1):c.1722+2T>C
|
rs886041836
|
|
NM_001009944.3(PKD1):c.1723-1G>A
|
rs1596582948
|
|
NM_001009944.3(PKD1):c.1723-4C>G
|
|
|
NM_001009944.3(PKD1):c.1732T>A (p.Phe578Ile)
|
|
|
NM_001009944.3(PKD1):c.1736C>G (p.Pro579Arg)
|
|
|
NM_001009944.3(PKD1):c.1736C>T (p.Pro579Leu)
|
|
|
NM_001009944.3(PKD1):c.173_193dup (p.Arg64_Ile65insThrLeuGlyProAlaLeuArg)
|
|
|
NM_001009944.3(PKD1):c.1756G>C (p.Glu586Gln)
|
|
|
NM_001009944.3(PKD1):c.1772C>T (p.Thr591Met)
|
|
|
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)
|
rs1596582702
|
|
NM_001009944.3(PKD1):c.1789C>T (p.Gln597Ter)
|
|
|
NM_001009944.3(PKD1):c.1792G>C (p.Glu598Gln)
|
|
|
NM_001009944.3(PKD1):c.17C>G (p.Pro6Arg)
|
|
|
NM_001009944.3(PKD1):c.1802G>A (p.Arg601Gln)
|
|
|
NM_001009944.3(PKD1):c.1802G>C (p.Arg601Pro)
|
|
|
NM_001009944.3(PKD1):c.1807G>A (p.Ala603Thr)
|
|
|
NM_001009944.3(PKD1):c.1807G>C (p.Ala603Pro)
|
|
|
NM_001009944.3(PKD1):c.1817G>C (p.Arg606Pro)
|
rs2092629034
|
|
NM_001009944.3(PKD1):c.1832G>A (p.Arg611Gln)
|
|
|
NM_001009944.3(PKD1):c.1849+19G>A
|
|
|
NM_001009944.3(PKD1):c.1849+1G>T
|
rs2092628618
|
|
NM_001009944.3(PKD1):c.1850-12C>G
|
|
|
NM_001009944.3(PKD1):c.1856C>T (p.Pro619Leu)
|
|
|
NM_001009944.3(PKD1):c.1870G>A (p.Glu624Lys)
|
|
|
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.1910C>T (p.Ala637Val)
|
rs1324355778
|
|
NM_001009944.3(PKD1):c.1916C>T (p.Ala639Val)
|
|
|
NM_001009944.3(PKD1):c.1919G>A (p.Cys640Tyr)
|
|
|
NM_001009944.3(PKD1):c.1924C>A (p.Pro642Thr)
|
|
|
NM_001009944.3(PKD1):c.1930G>T (p.Gly644Ter)
|
|
|
NM_001009944.3(PKD1):c.1938G>A (p.Trp646Ter)
|
|
|
NM_001009944.3(PKD1):c.1945G>A (p.Gly649Arg)
|
|
|
NM_001009944.3(PKD1):c.1969G>A (p.Asp657Asn)
|
|
|
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
|
rs2544860881
|
|
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
|
rs781018494
|
|
NM_001009944.3(PKD1):c.1A>C (p.Met1Leu)
|
|
|
NM_001009944.3(PKD1):c.1A>T (p.Met1Leu)
|
|
|
NM_001009944.3(PKD1):c.2033C>T (p.Ala678Val)
|
|
|
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs)
|
rs1448641464
|
|
NM_001009944.3(PKD1):c.2042C>T (p.Ala681Val)
|
|
|
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs)
|
rs2151816205
|
|
NM_001009944.3(PKD1):c.2079G>C (p.Gly693=)
|
|
|
NM_001009944.3(PKD1):c.2079del (p.Ala696fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2081_2085dup (p.Ala696fs)
|
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2097+1G>A
|
rs2151816064
|
|
NM_001009944.3(PKD1):c.2099T>A (p.Val700Asp)
|
|
|
NM_001009944.3(PKD1):c.2100C>G (p.Val700=)
|
|
|
NM_001009944.3(PKD1):c.2104C>T (p.Leu702Phe)
|
|
|
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln)
|
rs527655141
|
|
NM_001009944.3(PKD1):c.2122C>A (p.Leu708Ile)
|
|
|
NM_001009944.3(PKD1):c.2126T>C (p.Met709Thr)
|
|
|
NM_001009944.3(PKD1):c.2128C>T (p.Leu710Phe)
|
|
|
NM_001009944.3(PKD1):c.2143G>A (p.Val715Ile)
|
|
|
NM_001009944.3(PKD1):c.2143G>T (p.Val715Phe)
|
rs1264766449
|
|
NM_001009944.3(PKD1):c.215+2_215+3del
|
rs2092939625
|
|
NM_001009944.3(PKD1):c.215+5G>A
|
|
|
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.216-3C>T
|
|
|
NM_001009944.3(PKD1):c.2169_2170delinsA (p.Gly724fs)
|
|
|
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2195C>T (p.Ala732Val)
|
|
|
NM_001009944.3(PKD1):c.2212C>A (p.Pro738Thr)
|
|
|
NM_001009944.3(PKD1):c.2226C>G (p.Tyr742Ter)
|
|
|
NM_001009944.3(PKD1):c.2227C>G (p.Leu743Val)
|
|
|
NM_001009944.3(PKD1):c.2237A>G (p.Asn746Ser)
|
|
|
NM_001009944.3(PKD1):c.2246C>G (p.Ser749Ter)
|
|
|
NM_001009944.3(PKD1):c.224C>T (p.Ser75Phe)
|
|
|
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter)
|
rs775710328
|
|
NM_001009944.3(PKD1):c.2282C>A (p.Thr761Asn)
|
|
|
NM_001009944.3(PKD1):c.2287G>A (p.Ala763Thr)
|
|
|
NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs)
|
rs2092600667
|
|
NM_001009944.3(PKD1):c.2294C>T (p.Pro765Leu)
|
|
|
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs)
|
rs2092600549
|
|
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser)
|
rs2092686792
|
|
NM_001009944.3(PKD1):c.2315T>C (p.Leu772Pro)
|
|
|
NM_001009944.3(PKD1):c.2320G>A (p.Ala774Thr)
|
|
|
NM_001009944.3(PKD1):c.2335A>G (p.Thr779Ala)
|
|
|
NM_001009944.3(PKD1):c.2338G>A (p.Val780Met)
|
rs780727251
|
|
NM_001009944.3(PKD1):c.2362C>A (p.Pro788Thr)
|
|
|
NM_001009944.3(PKD1):c.2371C>T (p.Arg791Trp)
|
|
|
NM_001009944.3(PKD1):c.2405T>A (p.Val802Glu)
|
|
|
NM_001009944.3(PKD1):c.2415C>T (p.Gly805=)
|
|
|
NM_001009944.3(PKD1):c.2425C>T (p.His809Tyr)
|
|
|
NM_001009944.3(PKD1):c.2427_2428del (p.His809fs)
|
|
|
NM_001009944.3(PKD1):c.2474G>A (p.Arg825Gln)
|
|
|
NM_001009944.3(PKD1):c.2489C>A (p.Ala830Asp)
|
|
|
NM_001009944.3(PKD1):c.2492C>A (p.Pro831His)
|
rs2544853623
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.2503C>T (p.Arg835Cys)
|
|
|
NM_001009944.3(PKD1):c.250G>A (p.Val84Ile)
|
rs914018183
|
|
NM_001009944.3(PKD1):c.2524_2525dup (p.Ser843fs)
|
|
|
NM_001009944.3(PKD1):c.2530G>C (p.Ala844Pro)
|
rs1162533695
|
|
NM_001009944.3(PKD1):c.2536G>A (p.Val846Met)
|
|
|
NM_001009944.3(PKD1):c.2543A>C (p.Gln848Pro)
|
|
|
NM_001009944.3(PKD1):c.2553_2554del (p.Gly852fs)
|
|
|
NM_001009944.3(PKD1):c.2555G>A (p.Gly852Asp)
|
|
|
NM_001009944.3(PKD1):c.2561A>G (p.Asn854Ser)
|
|
|
NM_001009944.3(PKD1):c.2563G>A (p.Ala855Thr)
|
|
|
NM_001009944.3(PKD1):c.2602G>T (p.Ala868Ser)
|
|
|
NM_001009944.3(PKD1):c.2605C>T (p.Arg869Cys)
|
|
|
NM_001009944.3(PKD1):c.2609_2610dup (p.Glu871fs)
|
|
|
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs)
|
rs1596575646
|
|
NM_001009944.3(PKD1):c.2618_2622dup (p.Pro875fs)
|
|
|
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs)
|
rs1555457807
|
|
NM_001009944.3(PKD1):c.2629C>G (p.Leu877Val)
|
|
|
NM_001009944.3(PKD1):c.2654G>A (p.Cys885Tyr)
|
|
|
NM_001009944.3(PKD1):c.2659del (p.Trp887fs)
|
rs2092593850
|
|
NM_001009944.3(PKD1):c.2663del (p.Glu888fs)
|
|
|
NM_001009944.3(PKD1):c.2675C>T (p.Thr892Ile)
|
|
|
NM_001009944.3(PKD1):c.268del (p.Leu90fs)
|
|
|
NM_001009944.3(PKD1):c.2703G>A (p.Trp901Ter)
|
|
|
NM_001009944.3(PKD1):c.2709_2712del (p.Ser903fs)
|
|
|
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter)
|
rs2151812964
|
|
NM_001009944.3(PKD1):c.2725G>C (p.Val909Leu)
|
|
|
NM_001009944.3(PKD1):c.2729_2730del (p.Asp910fs)
|
|
|
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter)
|
rs1339097856
|
|
NM_001009944.3(PKD1):c.2730_2741del (p.Asp910_Val913del)
|
|
|
NM_001009944.3(PKD1):c.2781G>A (p.Thr927=)
|
|
|
NM_001009944.3(PKD1):c.2781_2782insAG (p.Ala928fs)
|
rs1596574987
|
|
NM_001009944.3(PKD1):c.2783C>T (p.Ala928Val)
|
|
|
NM_001009944.3(PKD1):c.2790G>T (p.Glu930Asp)
|
|
|
NM_001009944.3(PKD1):c.2830C>T (p.Arg944Cys)
|
|
|
NM_001009944.3(PKD1):c.2831G>A (p.Arg944His)
|
|
|
NM_001009944.3(PKD1):c.2853+1G>A
|
rs2151812559
|
|
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp)
|
rs1305213807
|
|
NM_001009944.3(PKD1):c.287T>A (p.Leu96Gln)
|
|
|
NM_001009944.3(PKD1):c.288-1G>C
|
|
|
NM_001009944.3(PKD1):c.288-2A>G
|
rs2092684358
|
|
NM_001009944.3(PKD1):c.2882C>G (p.Ser961Trp)
|
|
|
NM_001009944.3(PKD1):c.2884G>C (p.Asp962His)
|
|
|
NM_001009944.3(PKD1):c.2897G>A (p.Arg966Gln)
|
|
|
NM_001009944.3(PKD1):c.2927C>G (p.Thr976Ser)
|
|
|
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter)
|
rs1555457446
|
|
NM_001009944.3(PKD1):c.2941G>T (p.Val981Phe)
|
|
|
NM_001009944.3(PKD1):c.295A>C (p.Ser99Arg)
|
|
|
NM_001009944.3(PKD1):c.2960_2973del (p.Gln987fs)
|
|
|
NM_001009944.3(PKD1):c.2966C>T (p.Ala989Val)
|
|
|
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=)
|
rs1324429294
|
|
NM_001009944.3(PKD1):c.2968dup (p.Ala990fs)
|
|
|
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del)
|
rs2544885084
|
|
NM_001009944.3(PKD1):c.2983T>A (p.Ser995Thr)
|
|
|
NM_001009944.3(PKD1):c.2984C>G (p.Ser995Ter)
|
|
|
NM_001009944.3(PKD1):c.2986-2A>G
|
|
|
NM_001009944.3(PKD1):c.2990C>T (p.Thr997Met)
|
|
|
NM_001009944.3(PKD1):c.2996C>G (p.Ser999Cys)
|
|
|
NM_001009944.3(PKD1):c.2996C>T (p.Ser999Phe)
|
|
|
NM_001009944.3(PKD1):c.3006G>A (p.Val1002=)
|
|
|
NM_001009944.3(PKD1):c.3019G>T (p.Val1007Leu)
|
|
|
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del)
|
rs1567207029
|
|
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys)
|
rs2092684130
|
|
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter)
|
rs753261451
|
|
NM_001009944.3(PKD1):c.305_307del (p.Lys102del)
|
rs1567219527
|
|
NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter)
|
rs2092555939
|
|
NM_001009944.3(PKD1):c.3068A>T (p.Gln1023Leu)
|
|
|
NM_001009944.3(PKD1):c.3070G>A (p.Val1024Ile)
|
|
|
NM_001009944.3(PKD1):c.3083C>G (p.Pro1028Arg)
|
|
|
NM_001009944.3(PKD1):c.3100A>T (p.Asn1034Tyr)
|
|
|
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser)
|
rs28681051
|
|
NM_001009944.3(PKD1):c.3104C>T (p.Ala1035Val)
|
|
|
NM_001009944.3(PKD1):c.3105_3109del (p.Thr1036fs)
|
|
|
NM_001009944.3(PKD1):c.3106A>G (p.Thr1036Ala)
|
|
|
NM_001009944.3(PKD1):c.3106dup (p.Thr1036fs)
|
|
|
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)
|
rs2151806438
|
|
NM_001009944.3(PKD1):c.3124G>A (p.Gly1042Ser)
|
|
|
NM_001009944.3(PKD1):c.3126C>T (p.Gly1042=)
|
|
|
NM_001009944.3(PKD1):c.3141G>A (p.Ser1047=)
|
|
|
NM_001009944.3(PKD1):c.3145G>T (p.Val1049Leu)
|
|
|
NM_001009944.3(PKD1):c.3148G>T (p.Glu1050Ter)
|
|
|
NM_001009944.3(PKD1):c.3161+1G>T
|
|
|
NM_001009944.3(PKD1):c.3162-1G>C
|
rs2544837759
|
|
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)
|
rs1596566550
|
|
NM_001009944.3(PKD1):c.3168del (p.Phe1057fs)
|
|
|
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser)
|
rs2151804604
|
|
NM_001009944.3(PKD1):c.3171_3172del (p.Phe1057fs)
|
rs2151804597
|
|
NM_001009944.3(PKD1):c.3185A>G (p.Gln1062Arg)
|
|
|
NM_001009944.3(PKD1):c.3196C>T (p.Gln1066Ter)
|
|
|
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.3213C>G (p.Tyr1071Ter)
|
|
|
NM_001009944.3(PKD1):c.3229G>A (p.Val1077Ile)
|
|
|
NM_001009944.3(PKD1):c.3239C>T (p.Pro1080Leu)
|
rs746334905
|
|
NM_001009944.3(PKD1):c.3244G>A (p.Val1082Met)
|
|
|
NM_001009944.3(PKD1):c.3250C>T (p.Gln1084Ter)
|
rs1373028227
|
|
NM_001009944.3(PKD1):c.3267del (p.His1089fs)
|
|
|
NM_001009944.3(PKD1):c.3277C>G (p.His1093Asp)
|
rs146352591
|
|
NM_001009944.3(PKD1):c.3282del (p.Tyr1095fs)
|
|
|
NM_001009944.3(PKD1):c.3284A>G (p.Tyr1095Cys)
|
|
|
NM_001009944.3(PKD1):c.3295+1G>A
|
|
|
NM_001009944.3(PKD1):c.3296-2A>G
|
|
|
NM_001009944.3(PKD1):c.3296-4_3304del
|
rs2544832042
|
|
NM_001009944.3(PKD1):c.330A>G (p.Ile110Met)
|
|
|
NM_001009944.3(PKD1):c.3311C>T (p.Thr1104Ile)
|
|
|
NM_001009944.3(PKD1):c.3313G>A (p.Val1105Met)
|
|
|
NM_001009944.3(PKD1):c.3317T>C (p.Leu1106Pro)
|
|
|
NM_001009944.3(PKD1):c.3338A>G (p.Asn1113Ser)
|
|
|
NM_001009944.3(PKD1):c.3341T>G (p.Leu1114Arg)
|
|
|
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.3384C>A (p.Ser1128=)
|
|
|
NM_001009944.3(PKD1):c.3405C>G (p.Asp1135Glu)
|
|
|
NM_001009944.3(PKD1):c.3409G>C (p.Val1137Leu)
|
|
|
NM_001009944.3(PKD1):c.3420del (p.Gly1141fs)
|
|
|
NM_001009944.3(PKD1):c.3425_3428dup (p.Val1144fs)
|
rs2544830957
|
|
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)
|
rs1320867301
|
|
NM_001009944.3(PKD1):c.3442C>G (p.Pro1148Ala)
|
|
|
NM_001009944.3(PKD1):c.3446A>T (p.His1149Leu)
|
|
|
NM_001009944.3(PKD1):c.3466_3467dup (p.Leu1158fs)
|
|
|
NM_001009944.3(PKD1):c.3467G>C (p.Gly1156Ala)
|
rs758919377
|
|
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.3487T>G (p.Phe1163Val)
|
|
|
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.3520C>T (p.Gln1174Ter)
|
rs1057518899
|
|
NM_001009944.3(PKD1):c.352A>G (p.Ser118Gly)
|
|
|
NM_001009944.3(PKD1):c.3535C>A (p.His1179Asn)
|
|
|
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys)
|
rs1458516705
|
|
NM_001009944.3(PKD1):c.3551G>A (p.Arg1184Lys)
|
|
|
NM_001009944.3(PKD1):c.3554G>T (p.Gly1185Val)
|
|
|
NM_001009944.3(PKD1):c.3556A>T (p.Thr1186Ser)
|
|
|
NM_001009944.3(PKD1):c.355G>A (p.Glu119Lys)
|
|
|
NM_001009944.3(PKD1):c.3560A>C (p.Tyr1187Ser)
|
rs2544829830
|
|
NM_001009944.3(PKD1):c.3569G>A (p.Arg1190His)
|
rs140152387
|
|
NM_001009944.3(PKD1):c.3570C>T (p.Arg1190=)
|
|
|
NM_001009944.3(PKD1):c.3587C>T (p.Thr1196Met)
|
|
|
NM_001009944.3(PKD1):c.359+2T>G
|
rs2092683440
|
|
NM_001009944.3(PKD1):c.359+5G>A
|
rs2092683412
|
|
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)
|
rs1555459345
|
|
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs)
|
rs778028967
|
|
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter)
|
rs2092506242
|
|
NM_001009944.3(PKD1):c.3611C>A (p.Ala1204Glu)
|
|
|
NM_001009944.3(PKD1):c.3611del (p.Ala1204fs)
|
|
|
NM_001009944.3(PKD1):c.3613G>C (p.Asp1205His)
|
|
|
NM_001009944.3(PKD1):c.3619C>T (p.Arg1207Cys)
|
|
|
NM_001009944.3(PKD1):c.3652dup (p.Asp1218fs)
|
|
|
NM_001009944.3(PKD1):c.3655A>C (p.Met1219Leu)
|
|
|
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
|
rs139100448
|
|
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met)
|
rs749092859
|
|
NM_001009944.3(PKD1):c.3668T>C (p.Val1223Ala)
|
|
|
NM_001009944.3(PKD1):c.3680C>T (p.Ala1227Val)
|
|
|
NM_001009944.3(PKD1):c.3698C>G (p.Ala1233Gly)
|
|
|
NM_001009944.3(PKD1):c.3700G>A (p.Ala1234Thr)
|
|
|
NM_001009944.3(PKD1):c.3704T>C (p.Val1235Ala)
|
|
|
NM_001009944.3(PKD1):c.3715G>A (p.Asp1239Asn)
|
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly)
|
rs2151800134
|
|
NM_001009944.3(PKD1):c.3741G>C (p.Met1247Ile)
|
|
|
NM_001009944.3(PKD1):c.3743G>A (p.Gly1248Glu)
|
|
|
NM_001009944.3(PKD1):c.3745G>A (p.Asp1249Asn)
|
rs2544828142
|
|
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala)
|
rs2092501507
|
|
NM_001009944.3(PKD1):c.3748G>A (p.Gly1250Ser)
|
|
|
NM_001009944.3(PKD1):c.3754G>A (p.Val1252Met)
|
|
|
NM_001009944.3(PKD1):c.3755T>C (p.Val1252Ala)
|
|
|
NM_001009944.3(PKD1):c.3761C>A (p.Ser1254Ter)
|
|
|
NM_001009944.3(PKD1):c.3762G>A (p.Ser1254=)
|
|
|
NM_001009944.3(PKD1):c.3785A>C (p.His1262Pro)
|
|
|
NM_001009944.3(PKD1):c.3792C>T (p.Tyr1264=)
|
|
|
NM_001009944.3(PKD1):c.3797G>A (p.Arg1266Gln)
|
|
|
NM_001009944.3(PKD1):c.3803A>T (p.Gln1268Leu)
|
|
|
NM_001009944.3(PKD1):c.3809G>A (p.Cys1270Tyr)
|
|
|
NM_001009944.3(PKD1):c.3814G>C (p.Val1272Leu)
|
|
|
NM_001009944.3(PKD1):c.3823G>A (p.Gly1275Ser)
|
|
|
NM_001009944.3(PKD1):c.382dup (p.Glu128fs)
|
|
|
NM_001009944.3(PKD1):c.3830C>T (p.Ala1277Val)
|
|
|
NM_001009944.3(PKD1):c.3833G>T (p.Ser1278Ile)
|
|
|
NM_001009944.3(PKD1):c.385T>C (p.Cys129Arg)
|
|
|
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro)
|
rs2544827223
|
|
NM_001009944.3(PKD1):c.3865dup (p.Val1289fs)
|
|
|
NM_001009944.3(PKD1):c.387T>G (p.Cys129Trp)
|
|
|
NM_001009944.3(PKD1):c.3890T>C (p.Leu1297Pro)
|
|
|
NM_001009944.3(PKD1):c.3893G>A (p.Arg1298His)
|
rs536743722
|
|
NM_001009944.3(PKD1):c.3895G>A (p.Val1299Ile)
|
|
|
NM_001009944.3(PKD1):c.3895G>C (p.Val1299Leu)
|
|
|
NM_001009944.3(PKD1):c.3898G>C (p.Glu1300Gln)
|
|
|
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro)
|
rs2092941758
|
|
NM_001009944.3(PKD1):c.3904G>A (p.Ala1302Thr)
|
rs139993510
|
|
NM_001009944.3(PKD1):c.3926C>G (p.Pro1309Arg)
|
|
|
NM_001009944.3(PKD1):c.3930C>G (p.Asp1310Glu)
|
|
|
NM_001009944.3(PKD1):c.3930_3931insCA (p.Ala1311fs)
|
rs2544826608
|
|
NM_001009944.3(PKD1):c.3941C>T (p.Thr1314Met)
|
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.3957_3994dup (p.Asp1332fs)
|
|
|
NM_001009944.3(PKD1):c.3971A>G (p.Tyr1324Cys)
|
rs2544826149
|
|
NM_001009944.3(PKD1):c.3973C>T (p.Leu1325Phe)
|
|
|
NM_001009944.3(PKD1):c.3974T>C (p.Leu1325Pro)
|
|
|
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser)
|
rs2092493397
|
|
NM_001009944.3(PKD1):c.3982T>C (p.Trp1328Arg)
|
|
|
NM_001009944.3(PKD1):c.3986C>T (p.Thr1329Ile)
|
|
|
NM_001009944.3(PKD1):c.4001C>T (p.Ser1334Phe)
|
|
|
NM_001009944.3(PKD1):c.4006A>C (p.Asn1336His)
|
|
|
NM_001009944.3(PKD1):c.4010C>T (p.Thr1337Met)
|
|
|
NM_001009944.3(PKD1):c.4021G>A (p.Gly1341Arg)
|
|
|
NM_001009944.3(PKD1):c.4039C>T (p.His1347Tyr)
|
|
|
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs)
|
rs2092491511
|
|
NM_001009944.3(PKD1):c.4042_4044del (p.Asn1348del)
|
|
|
NM_001009944.3(PKD1):c.4043A>G (p.Asn1348Ser)
|
|
|
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys)
|
rs2092679535
|
|
NM_001009944.3(PKD1):c.4063T>A (p.Phe1355Ile)
|
|
|
NM_001009944.3(PKD1):c.4064_4065dup (p.Pro1356fs)
|
|
|
NM_001009944.3(PKD1):c.4066C>T (p.Pro1356Ser)
|
|
|
NM_001009944.3(PKD1):c.4070T>C (p.Leu1357Pro)
|
rs2151798827
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.4077G>T (p.Leu1359=)
|
|
|
NM_001009944.3(PKD1):c.4085C>T (p.Ser1362Phe)
|
|
|
NM_001009944.3(PKD1):c.4093G>A (p.Val1365Met)
|
|
|
NM_001009944.3(PKD1):c.40GGCCTG[1] (p.14GL[1])
|
|
|
NM_001009944.3(PKD1):c.4105C>G (p.His1369Asp)
|
|
|
NM_001009944.3(PKD1):c.4115C>T (p.Thr1372Ile)
|
|
|
NM_001009944.3(PKD1):c.4126G>C (p.Val1376Leu)
|
|
|
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.4154T>G (p.Leu1385Arg)
|
|
|
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs)
|
rs1555456208
|
|
NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter)
|
rs2544883158
|
|
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
|
rs2544883158
|
|
NM_001009944.3(PKD1):c.4171T>C (p.Phe1391Leu)
|
|
|
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter)
|
rs1567201083
|
|
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val)
|
rs1413875287
|
|
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln)
|
|
|
NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter)
|
rs890465248
|
|
NM_001009944.3(PKD1):c.4198C>T (p.Leu1400=)
|
|
|
NM_001009944.3(PKD1):c.41G>A (p.Gly14Asp)
|
|
|
NM_001009944.3(PKD1):c.4205C>T (p.Ala1402Val)
|
|
|
NM_001009944.3(PKD1):c.4209T>G (p.Cys1403Trp)
|
|
|
NM_001009944.3(PKD1):c.4210G>A (p.Ala1404Thr)
|
|
|
NM_001009944.3(PKD1):c.4219C>T (p.Pro1407Ser)
|
|
|
NM_001009944.3(PKD1):c.4228T>G (p.Tyr1410Asp)
|
|
|
NM_001009944.3(PKD1):c.4234T>G (p.Tyr1412Asp)
|
|
|
NM_001009944.3(PKD1):c.424G>A (p.Glu142Lys)
|
|
|
NM_001009944.3(PKD1):c.4253C>G (p.Thr1418Ser)
|
|
|
NM_001009944.3(PKD1):c.4257G>C (p.Glu1419Asp)
|
|
|
NM_001009944.3(PKD1):c.4265C>A (p.Ala1422Asp)
|
|
|
NM_001009944.3(PKD1):c.4279A>G (p.Arg1427Gly)
|
|
|
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
|
rs2544823369
|
|
NM_001009944.3(PKD1):c.427C>G (p.Gln143Glu)
|
|
|
NM_001009944.3(PKD1):c.4296_4298del (p.Phe1433del)
|
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4333G>A (p.Val1445Ile)
|
|
|
NM_001009944.3(PKD1):c.4346A>G (p.Asn1449Ser)
|
|
|
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
NM_001009944.3(PKD1):c.4347C>G (p.Asn1449Lys)
|
|
|
NM_001009944.3(PKD1):c.4369_4370del (p.Ala1458fs)
|
rs2092481936
|
|
NM_001009944.3(PKD1):c.4370C>G (p.Ser1457Ter)
|
|
|
NM_001009944.3(PKD1):c.437G>C (p.Arg146Pro)
|
|
|
NM_001009944.3(PKD1):c.4390G>T (p.Glu1464Ter)
|
|
|
NM_001009944.3(PKD1):c.4391A>T (p.Glu1464Val)
|
|
|
NM_001009944.3(PKD1):c.4396G>A (p.Val1466Met)
|
|
|
NM_001009944.3(PKD1):c.4397T>A (p.Val1466Glu)
|
|
|
NM_001009944.3(PKD1):c.4399C>A (p.Leu1467Met)
|
|
|
NM_001009944.3(PKD1):c.4418T>C (p.Val1473Ala)
|
|
|
NM_001009944.3(PKD1):c.4441C>A (p.Leu1481Met)
|
|
|
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.4455C>G (p.Tyr1485Ter)
|
|
|
NM_001009944.3(PKD1):c.4459T>C (p.Phe1487Leu)
|
|
|
NM_001009944.3(PKD1):c.4460T>C (p.Phe1487Ser)
|
|
|
NM_001009944.3(PKD1):c.4460_4469del (p.Phe1487fs)
|
|
|
NM_001009944.3(PKD1):c.4462T>A (p.Ser1488Thr)
|
|
|
NM_001009944.3(PKD1):c.4462T>C (p.Ser1488Pro)
|
rs773746552
|
|
NM_001009944.3(PKD1):c.4466C>T (p.Ala1489Val)
|
|
|
NM_001009944.3(PKD1):c.4493A>C (p.Tyr1498Ser)
|
|
|
NM_001009944.3(PKD1):c.4494C>G (p.Tyr1498Ter)
|
|
|
NM_001009944.3(PKD1):c.4506G>A (p.Leu1502=)
|
|
|
NM_001009944.3(PKD1):c.4520G>A (p.Trp1507Ter)
|
|
|
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)
|
rs144200494
|
|
NM_001009944.3(PKD1):c.4531C>A (p.Pro1511Thr)
|
|
|
NM_001009944.3(PKD1):c.453G>C (p.Glu151Asp)
|
|
|
NM_001009944.3(PKD1):c.4550A>G (p.Tyr1517Cys)
|
|
|
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4551C>T (p.Tyr1517=)
|
|
|
NM_001009944.3(PKD1):c.4573G>A (p.Val1525Ile)
|
|
|
NM_001009944.3(PKD1):c.4582G>C (p.Ala1528Pro)
|
|
|
NM_001009944.3(PKD1):c.4585G>A (p.Gly1529Ser)
|
|
|
NM_001009944.3(PKD1):c.4585G>T (p.Gly1529Cys)
|
|
|
NM_001009944.3(PKD1):c.4586G>A (p.Gly1529Asp)
|
rs2151797032
|
|
NM_001009944.3(PKD1):c.4597G>T (p.Val1533Leu)
|
|
|
NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter)
|
rs1596558405
|
|
NM_001009944.3(PKD1):c.4628C>T (p.Thr1543Met)
|
|
|
NM_001009944.3(PKD1):c.4629G>A (p.Thr1543=)
|
|
|
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)
|
rs2544820023
|
|
NM_001009944.3(PKD1):c.4639C>T (p.Arg1547Cys)
|
|
|
NM_001009944.3(PKD1):c.4640G>A (p.Arg1547His)
|
|
|
NM_001009944.3(PKD1):c.464G>A (p.Cys155Tyr)
|
|
|
NM_001009944.3(PKD1):c.4651C>T (p.Leu1551Phe)
|
|
|
NM_001009944.3(PKD1):c.4654del (p.Val1552fs)
|
rs2047525622
|
|
NM_001009944.3(PKD1):c.4665A>T (p.Ala1555=)
|
|
|
NM_001009944.3(PKD1):c.4667G>C (p.Ser1556Thr)
|
|
|
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=)
|
rs114489044
|
|
NM_001009944.3(PKD1):c.4691G>T (p.Gly1564Val)
|
|
|
NM_001009944.3(PKD1):c.4696_4701del (p.Val1566_Ser1567del)
|
|
|
NM_001009944.3(PKD1):c.4709C>G (p.Thr1570Arg)
|
|
|
NM_001009944.3(PKD1):c.4712C>A (p.Ser1571Ter)
|
|
|
NM_001009944.3(PKD1):c.4712C>T (p.Ser1571Leu)
|
|
|
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs)
|
rs2151796475
|
|
NM_001009944.3(PKD1):c.4746G>T (p.Trp1582Cys)
|
|
|
NM_001009944.3(PKD1):c.4749_4751delinsAGCGCTATTC (p.Leu1584fs)
|
|
|
NM_001009944.3(PKD1):c.4766C>T (p.Thr1589Met)
|
|
|
NM_001009944.3(PKD1):c.4774C>T (p.Pro1592Ser)
|
|
|
NM_001009944.3(PKD1):c.4793_4794del (p.Ser1598fs)
|
|
|
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter)
|
rs202110519
|
|
NM_001009944.3(PKD1):c.4797C>G (p.Tyr1599Ter)
|
|
|
NM_001009944.3(PKD1):c.4799C>G (p.Thr1600Ser)
|
|
|
NM_001009944.3(PKD1):c.4799C>T (p.Thr1600Ile)
|
|
|
NM_001009944.3(PKD1):c.4818del (p.Phe1607fs)
|
|
|
NM_001009944.3(PKD1):c.4825A>G (p.Ile1609Val)
|
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.4835_4839delinsGATGATACTGAA (p.Thr1612_Ala1613delinsArgTer)
|
|
|
NM_001009944.3(PKD1):c.4840G>A (p.Glu1614Lys)
|
|
|
NM_001009944.3(PKD1):c.4846G>A (p.Glu1616Lys)
|
|
|
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter)
|
rs566014072
|
|
NM_001009944.3(PKD1):c.4850T>C (p.Val1617Ala)
|
|
|
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)
|
rs1264176877
|
|
NM_001009944.3(PKD1):c.486T>A (p.Ala162=)
|
|
|
NM_001009944.3(PKD1):c.4880A>G (p.Tyr1627Cys)
|
|
|
NM_001009944.3(PKD1):c.4882G>A (p.Val1628Ile)
|
|
|
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
|
rs2544817521
|
|
NM_001009944.3(PKD1):c.4894A>T (p.Ile1632Leu)
|
|
|
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)
|
rs1596557266
|
|
NM_001009944.3(PKD1):c.4922G>T (p.Gly1641Val)
|
|
|
NM_001009944.3(PKD1):c.4924C>T (p.Arg1642Cys)
|
|
|
NM_001009944.3(PKD1):c.4935del (p.Thr1646fs)
|
|
|
NM_001009944.3(PKD1):c.4947G>A (p.Thr1649=)
|
|
|
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)
|
rs1596557065
|
|
NM_001009944.3(PKD1):c.497T>C (p.Leu166Pro)
|
|
|
NM_001009944.3(PKD1):c.4981A>G (p.Asn1661Asp)
|
|
|
NM_001009944.3(PKD1):c.4981_4983del (p.Asn1661del)
|
|
|
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile)
|
rs766683298
|
|
NM_001009944.3(PKD1):c.4995C>G (p.Ser1665Arg)
|
|
|
NM_001009944.3(PKD1):c.5006G>A (p.Trp1669Ter)
|
rs769439901
|
|
NM_001009944.3(PKD1):c.5012_5017del (p.Asp1671_Arg1672del)
|
|
|
NM_001009944.3(PKD1):c.5014delinsGG (p.Arg1672fs)
|
|
|
NM_001009944.3(PKD1):c.5018del (p.Gly1673fs)
|
rs1596556800
|
|
NM_001009944.3(PKD1):c.5031C>T (p.Ala1677=)
|
rs551270517
|
|
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=)
|
rs144091742
|
|
NM_001009944.3(PKD1):c.5042A>G (p.Lys1681Arg)
|
|
|
NM_001009944.3(PKD1):c.5078A>C (p.Tyr1693Ser)
|
|
|
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)
|
rs1057518783
|
|
NM_001009944.3(PKD1):c.5099C>G (p.Thr1700Ser)
|
|
|
NM_001009944.3(PKD1):c.5116G>C (p.Ala1706Pro)
|
|
|
NM_001009944.3(PKD1):c.5130_5146dup (p.Glu1716fs)
|
|
|
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs)
|
rs1596556375
|
|
NM_001009944.3(PKD1):c.515_516dup (p.Asp173fs)
|
|
|
NM_001009944.3(PKD1):c.516G>C (p.Leu172=)
|
|
|
NM_001009944.3(PKD1):c.5178C>T (p.Ser1726=)
|
|
|
NM_001009944.3(PKD1):c.5179C>G (p.Pro1727Ala)
|
|
|
NM_001009944.3(PKD1):c.5186C>T (p.Pro1729Leu)
|
|
|
NM_001009944.3(PKD1):c.5194G>A (p.Val1732Ile)
|
|
|
NM_001009944.3(PKD1):c.521G>C (p.Ser174Thr)
|
|
|
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter)
|
rs2092456617
|
|
NM_001009944.3(PKD1):c.5229_5235del (p.Gly1744fs)
|
|
|
NM_001009944.3(PKD1):c.5244C>G (p.Val1748=)
|
|
|
NM_001009944.3(PKD1):c.5245G>C (p.Val1749Leu)
|
|
|
NM_001009944.3(PKD1):c.5255G>A (p.Trp1752Ter)
|
|
|
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu)
|
rs770462764
|
|
NM_001009944.3(PKD1):c.5272del (p.Gly1757_Leu1758insTer)
|
|
|
NM_001009944.3(PKD1):c.5287T>C (p.Ser1763Pro)
|
|
|
NM_001009944.3(PKD1):c.529+19G>T
|
|
|
NM_001009944.3(PKD1):c.529+1G>A
|
|
|
NM_001009944.3(PKD1):c.529+3G>C
|
|
|
NM_001009944.3(PKD1):c.530-4C>G
|
|
|
NM_001009944.3(PKD1):c.5301C>T (p.Thr1767=)
|
|
|
NM_001009944.3(PKD1):c.5305C>T (p.His1769Tyr)
|
|
|
NM_001009944.3(PKD1):c.5307T>G (p.His1769Gln)
|
rs575064371
|
|
NM_001009944.3(PKD1):c.5321C>A (p.Pro1774His)
|
|
|
NM_001009944.3(PKD1):c.5330A>C (p.His1777Pro)
|
|
|
NM_001009944.3(PKD1):c.5339C>T (p.Thr1780Ile)
|
|
|
NM_001009944.3(PKD1):c.5341A>G (p.Met1781Val)
|
|
|
NM_001009944.3(PKD1):c.5346G>A (p.Thr1782=)
|
|
|
NM_001009944.3(PKD1):c.5347G>A (p.Ala1783Thr)
|
|
|
NM_001009944.3(PKD1):c.5351G>A (p.Gly1784Glu)
|
|
|
NM_001009944.3(PKD1):c.5357C>A (p.Pro1786Gln)
|
|
|
NM_001009944.3(PKD1):c.5369C>T (p.Ala1790Val)
|
|
|
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter)
|
rs2092452489
|
|
NM_001009944.3(PKD1):c.5413_5453del (p.Leu1805fs)
|
|
|
NM_001009944.3(PKD1):c.5416A>G (p.Ser1806Gly)
|
|
|
NM_001009944.3(PKD1):c.5437G>T (p.Gly1813Ter)
|
|
|
NM_001009944.3(PKD1):c.5445C>A (p.Ser1815Arg)
|
|
|
NM_001009944.3(PKD1):c.5465C>G (p.Ser1822Cys)
|
|
|
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter)
|
rs2544812084
|
|
NM_001009944.3(PKD1):c.5482C>T (p.Gln1828Ter)
|
|
|
NM_001009944.3(PKD1):c.548G>T (p.Cys183Phe)
|
|
|
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser)
|
rs2151792963
|
|
NM_001009944.3(PKD1):c.5495G>T (p.Gly1832Val)
|
rs2544812034
|
|
NM_001009944.3(PKD1):c.5497A>C (p.Thr1833Pro)
|
rs1475056804
|
|
NM_001009944.3(PKD1):c.5508C>G (p.Ser1836Arg)
|
|
|
NM_001009944.3(PKD1):c.550C>G (p.Leu184Val)
|
|
|
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter)
|
rs2092450284
|
|
NM_001009944.3(PKD1):c.5515T>A (p.Trp1839Arg)
|
|
|
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
|
|
|
NM_001009944.3(PKD1):c.5530G>C (p.Gly1844Arg)
|
|
|
NM_001009944.3(PKD1):c.5549del (p.Pro1850fs)
|
|
|
NM_001009944.3(PKD1):c.554C>T (p.Pro185Leu)
|
|
|
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs)
|
rs1567196314
|
|
NM_001009944.3(PKD1):c.5554G>A (p.Val1852Ile)
|
|
|
NM_001009944.3(PKD1):c.5558C>T (p.Thr1853Ile)
|
|
|
NM_001009944.3(PKD1):c.5569C>T (p.Pro1857Ser)
|
|
|
NM_001009944.3(PKD1):c.5580C>T (p.Gly1860=)
|
|
|
NM_001009944.3(PKD1):c.5592C>G (p.Ile1864Met)
|
|
|
NM_001009944.3(PKD1):c.5600A>C (p.Asn1867Thr)
|
|
|
NM_001009944.3(PKD1):c.5606C>G (p.Ser1869Cys)
|
|
|
NM_001009944.3(PKD1):c.5608A>C (p.Asn1870His)
|
|
|
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser)
|
rs2544811132
|
|
NM_001009944.3(PKD1):c.5609A>T (p.Asn1870Ile)
|
|
|
NM_001009944.3(PKD1):c.5613dup (p.Val1872fs)
|
|
|
NM_001009944.3(PKD1):c.5620T>G (p.Trp1874Gly)
|
|
|
NM_001009944.3(PKD1):c.5637C>G (p.Tyr1879Ter)
|
rs2092447380
|
|
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter)
|
rs1304952446
|
|
NM_001009944.3(PKD1):c.5707delinsGA (p.Gln1903fs)
|
|
|
NM_001009944.3(PKD1):c.5712G>T (p.Leu1904=)
|
|
|
NM_001009944.3(PKD1):c.5713del (p.Val1905fs)
|
|
|
NM_001009944.3(PKD1):c.5715C>G (p.Val1905=)
|
|
|
NM_001009944.3(PKD1):c.5731C>G (p.Leu1911Val)
|
|
|
NM_001009944.3(PKD1):c.5740G>A (p.Gly1914Ser)
|
|
|
NM_001009944.3(PKD1):c.5756del (p.Phe1919fs)
|
rs2544809853
|
|
NM_001009944.3(PKD1):c.5758C>G (p.Arg1920Gly)
|
|
|
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)
|
rs199476101
|
|
NM_001009944.3(PKD1):c.5778_5784del (p.Asn1927fs)
|
|
|
NM_001009944.3(PKD1):c.5782C>G (p.Pro1928Ala)
|
|
|
NM_001009944.3(PKD1):c.5791C>T (p.Leu1931Phe)
|
|
|
NM_001009944.3(PKD1):c.5792T>C (p.Leu1931Pro)
|
|
|
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys)
|
rs776113903
|
|
NM_001009944.3(PKD1):c.5812C>T (p.His1938Tyr)
|
|
|
NM_001009944.3(PKD1):c.5836C>T (p.His1946Tyr)
|
|
|
NM_001009944.3(PKD1):c.5839G>A (p.Val1947Met)
|
|
|
NM_001009944.3(PKD1):c.5848G>C (p.Val1950Leu)
|
|
|
NM_001009944.3(PKD1):c.5857A>G (p.Lys1953Glu)
|
|
|
NM_001009944.3(PKD1):c.5866G>A (p.Val1956Met)
|
|
|
NM_001009944.3(PKD1):c.5871C>G (p.Ser1957Arg)
|
|
|
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)
|
rs1567195059
|
|
NM_001009944.3(PKD1):c.587C>T (p.Ser196Phe)
|
|
|
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val)
|
rs375440448
|
|
NM_001009944.3(PKD1):c.5893A>G (p.Ile1965Val)
|
|
|
NM_001009944.3(PKD1):c.5895dup (p.Val1966fs)
|
|
|
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)
|
rs2092439541
|
|
NM_001009944.3(PKD1):c.5929C>T (p.Pro1977Ser)
|
|
|
NM_001009944.3(PKD1):c.5936G>T (p.Cys1979Phe)
|
|
|
NM_001009944.3(PKD1):c.5941G>A (p.Glu1981Lys)
|
|
|
NM_001009944.3(PKD1):c.5958G>A (p.Thr1986=)
|
|
|
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs)
|
rs2151790499
|
|
NM_001009944.3(PKD1):c.5972A>G (p.Asn1991Ser)
|
|
|
NM_001009944.3(PKD1):c.5993G>A (p.Arg1998His)
|
|
|
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser)
|
rs2092437527
|
|
NM_001009944.3(PKD1):c.5995G>T (p.Gly1999Cys)
|
|
|
NM_001009944.3(PKD1):c.6004G>A (p.Val2002Ile)
|
|
|
NM_001009944.3(PKD1):c.6005T>A (p.Val2002Asp)
|
|
|
NM_001009944.3(PKD1):c.6012C>A (p.Tyr2004Ter)
|
|
|
NM_001009944.3(PKD1):c.601dup (p.His201fs)
|
rs2151824362
|
|
NM_001009944.3(PKD1):c.6024C>G (p.Phe2008Leu)
|
|
|
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.6090del (p.Val2031fs)
|
|
|
NM_001009944.3(PKD1):c.6091_6136del (p.Val2031fs)
|
|
|
NM_001009944.3(PKD1):c.6102del (p.Leu2035fs)
|
|
|
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter)
|
rs755747732
|
|
NM_001009944.3(PKD1):c.6119T>G (p.Val2040Gly)
|
|
|
NM_001009944.3(PKD1):c.6132C>A (p.Asn2044Lys)
|
|
|
NM_001009944.3(PKD1):c.6145G>C (p.Glu2049Gln)
|
|
|
NM_001009944.3(PKD1):c.6148A>T (p.Asn2050Tyr)
|
|
|
NM_001009944.3(PKD1):c.6152G>A (p.Arg2051His)
|
|
|
NM_001009944.3(PKD1):c.6157C>G (p.Leu2053Val)
|
|
|
NM_001009944.3(PKD1):c.6167_6169dup (p.Glu2056_Val2057insGlu)
|
|
|
NM_001009944.3(PKD1):c.6179C>G (p.Ala2060Gly)
|
rs753999046
|
|
NM_001009944.3(PKD1):c.6192G>T (p.Val2064=)
|
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6208C>T (p.Pro2070Ser)
|
|
|
NM_001009944.3(PKD1):c.6212G>C (p.Cys2071Ser)
|
|
|
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=)
|
rs886038370
|
|
NM_001009944.3(PKD1):c.6232C>T (p.Gln2078Ter)
|
|
|
NM_001009944.3(PKD1):c.6233A>G (p.Gln2078Arg)
|
|
|
NM_001009944.3(PKD1):c.6237dup (p.Glu2080Ter)
|
|
|
NM_001009944.3(PKD1):c.6245C>T (p.Ala2082Val)
|
|
|
NM_001009944.3(PKD1):c.6250_6252del (p.Ser2084del)
|
|
|
NM_001009944.3(PKD1):c.6254C>G (p.Pro2085Arg)
|
|
|
NM_001009944.3(PKD1):c.6256_6262dup (p.Arg2088fs)
|
|
|
NM_001009944.3(PKD1):c.6263G>C (p.Arg2088Pro)
|
|
|
NM_001009944.3(PKD1):c.6266G>A (p.Arg2089His)
|
|
|
NM_001009944.3(PKD1):c.6272C>T (p.Ala2091Val)
|
|
|
NM_001009944.3(PKD1):c.6278A>G (p.His2093Arg)
|
|
|
NM_001009944.3(PKD1):c.6280T>G (p.Trp2094Gly)
|
|
|
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.6292G>A (p.Asp2098Asn)
|
|
|
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly)
|
rs2151788839
|
|
NM_001009944.3(PKD1):c.6293A>T (p.Asp2098Val)
|
|
|
NM_001009944.3(PKD1):c.6298_6299delinsCT (p.Ser2100Leu)
|
|
|
NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr)
|
rs2092673697
|
|
NM_001009944.3(PKD1):c.6302C>A (p.Pro2101Gln)
|
|
|
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
|
|
|
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro)
|
rs1596551934
|
|
NM_001009944.3(PKD1):c.6346A>T (p.Arg2116Trp)
|
|
|
NM_001009944.3(PKD1):c.6361C>A (p.Arg2121Ser)
|
|
|
NM_001009944.3(PKD1):c.6370G>T (p.Val2124Leu)
|
|
|
NM_001009944.3(PKD1):c.6383A>C (p.Asn2128Thr)
|
|
|
NM_001009944.3(PKD1):c.6384C>A (p.Asn2128Lys)
|
|
|
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys)
|
rs1247882278
|
|
NM_001009944.3(PKD1):c.6400G>A (p.Val2134Met)
|
|
|
NM_001009944.3(PKD1):c.6404_6415del (p.Ala2135_Thr2138del)
|
|
|
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter)
|
rs2092425533
|
|
NM_001009944.3(PKD1):c.6413C>T (p.Thr2138Met)
|
|
|
NM_001009944.3(PKD1):c.6421G>T (p.Val2141Phe)
|
|
|
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter)
|
rs2151788037
|
|
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter)
|
rs2092423837
|
|
NM_001009944.3(PKD1):c.6485G>A (p.Arg2162Gln)
|
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.648C>T (p.Ser216=)
|
|
|
NM_001009944.3(PKD1):c.6491C>T (p.Ser2164Leu)
|
|
|
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter)
|
rs1485307916
|
|
NM_001009944.3(PKD1):c.6497G>A (p.Arg2166His)
|
|
|
NM_001009944.3(PKD1):c.6497G>T (p.Arg2166Leu)
|
|
|
NM_001009944.3(PKD1):c.6512C>T (p.Ala2171Val)
|
rs755655916
|
|
NM_001009944.3(PKD1):c.6518T>C (p.Val2173Ala)
|
|
|
NM_001009944.3(PKD1):c.6526C>T (p.Arg2176Cys)
|
|
|
NM_001009944.3(PKD1):c.6535G>A (p.Val2179Ile)
|
|
|
NM_001009944.3(PKD1):c.6537del (p.Thr2180fs)
|
|
|
NM_001009944.3(PKD1):c.6545_6603delinsGCTCG (p.Gln2182_Pro2201delinsArgSer)
|
rs2544801847
|
|
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)
|
rs1555454373
|
|
NM_001009944.3(PKD1):c.6552G>T (p.Glu2184Asp)
|
|
|
NM_001009944.3(PKD1):c.6561G>A (p.Trp2187Ter)
|
|
|
NM_001009944.3(PKD1):c.6576_6582del (p.Cys2195fs)
|
|
|
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.6587_6593dup (p.Gly2199fs)
|
rs1567192229
|
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NM_001009944.3(PKD1):c.6599_6614dup (p.Leu2206fs)
|
|
|
NM_001009944.3(PKD1):c.659del (p.Gly220fs)
|
rs2151824233
|
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NM_001009944.3(PKD1):c.6607C>T (p.Arg2203Cys)
|
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|
NM_001009944.3(PKD1):c.6608G>A (p.Arg2203His)
|
|
|
NM_001009944.3(PKD1):c.6608G>T (p.Arg2203Leu)
|
rs765511448
|
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NM_001009944.3(PKD1):c.6611_6612del (p.Val2204fs)
|
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|
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)
|
rs1567218310
|
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NM_001009944.3(PKD1):c.6631G>A (p.Val2211Met)
|
|
|
NM_001009944.3(PKD1):c.6644G>A (p.Arg2215Gln)
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|
NM_001009944.3(PKD1):c.664G>C (p.Ala222Pro)
|
|
|
NM_001009944.3(PKD1):c.6656C>G (p.Pro2219Arg)
|
|
|
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)
|
rs1567191874
|
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NM_001009944.3(PKD1):c.6656del (p.Pro2219fs)
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|
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)
|
rs2151786683
|
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NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu)
|
rs1567218284
|
|
NM_001009944.3(PKD1):c.6677G>A (p.Gly2226Glu)
|
|
|
NM_001009944.3(PKD1):c.667G>C (p.Ala223Pro)
|
rs2544880420
|
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NM_001009944.3(PKD1):c.6683A>C (p.Tyr2228Ser)
|
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
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NM_001009944.3(PKD1):c.6693_6694del (p.Phe2232fs)
|
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|
NM_001009944.3(PKD1):c.6709G>C (p.Gly2237Arg)
|
|
|
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter)
|
rs1567191609
|
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NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6729G>C (p.Gln2243His)
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|
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs)
|
rs2151786400
|
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NM_001009944.3(PKD1):c.6733A>T (p.Ile2245Phe)
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|
|
NM_001009944.3(PKD1):c.6734_6737del (p.Ile2245fs)
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|
NM_001009944.3(PKD1):c.6735C>G (p.Ile2245Met)
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|
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NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)
|
rs1567191534
|
|
NM_001009944.3(PKD1):c.673_674del (p.Ser225fs)
|
rs2544880396
|
|
NM_001009944.3(PKD1):c.674C>G (p.Ser225Trp)
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|
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
|
rs1596550396
|
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NM_001009944.3(PKD1):c.6755C>T (p.Ala2252Val)
|
|
|
NM_001009944.3(PKD1):c.6759del (p.Glu2254fs)
|
rs2544800556
|
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NM_001009944.3(PKD1):c.675G>C (p.Ser225=)
|
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NM_001009944.3(PKD1):c.6760G>A (p.Glu2254Lys)
|
|
|
NM_001009944.3(PKD1):c.6763C>T (p.Arg2255Cys)
|
rs199803853
|
|
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del)
|
rs2544800298
|
|
NM_001009944.3(PKD1):c.6786del (p.Gly2263fs)
|
|
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NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter)
|
rs1312494071
|
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NM_001009944.3(PKD1):c.6797G>A (p.Arg2266His)
|
|
|
NM_001009944.3(PKD1):c.6802_6803del (p.Trp2268fs)
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NM_001009944.3(PKD1):c.6803G>A (p.Trp2268Ter)
|
|
|
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)
|
rs1567191179
|
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NM_001009944.3(PKD1):c.6810C>G (p.Asp2270Glu)
|
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|
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
|
rs1567191145
|
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NM_001009944.3(PKD1):c.6815G>A (p.Arg2272Gln)
|
|
|
NM_001009944.3(PKD1):c.6830A>T (p.Asp2277Val)
|
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|
NM_001009944.3(PKD1):c.6837C>T (p.Ser2279=)
|
|
|
NM_001009944.3(PKD1):c.6859G>T (p.Glu2287Ter)
|
|
|
NM_001009944.3(PKD1):c.6867C>T (p.Gly2289=)
|
|
|
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter)
|
rs755591790
|
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NM_001009944.3(PKD1):c.6881T>C (p.Leu2294Pro)
|
|
|
NM_001009944.3(PKD1):c.6890A>C (p.His2297Pro)
|
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|
NM_001009944.3(PKD1):c.6892T>G (p.Trp2298Gly)
|
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|
NM_001009944.3(PKD1):c.689G>T (p.Cys230Phe)
|
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|
NM_001009944.3(PKD1):c.68C>G (p.Ala23Gly)
|
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NM_001009944.3(PKD1):c.68C>T (p.Ala23Val)
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NM_001009944.3(PKD1):c.6900T>A (p.Cys2300Ter)
|
|
|
NM_001009944.3(PKD1):c.6915+1G>A
|
rs2151785467
|
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NM_001009944.3(PKD1):c.6915+3C>G
|
|
|
NM_001009944.3(PKD1):c.6916-10C>T
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|
NM_001009944.3(PKD1):c.6916-5T>A
|
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NM_001009944.3(PKD1):c.6916-9G>A
|
rs1567190244
|
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NM_001009944.3(PKD1):c.6925G>T (p.Gly2309Cys)
|
|
|
NM_001009944.3(PKD1):c.692T>C (p.Leu231Pro)
|
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|
NM_001009944.3(PKD1):c.6932G>A (p.Cys2311Tyr)
|
|
|
NM_001009944.3(PKD1):c.6935C>G (p.Ala2312Gly)
|
|
|
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg)
|
rs2151824152
|
|
NM_001009944.3(PKD1):c.6979C>G (p.Arg2327Gly)
|
|
|
NM_001009944.3(PKD1):c.6980G>A (p.Arg2327Gln)
|
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|
NM_001009944.3(PKD1):c.6985C>T (p.Arg2329Trp)
|
|
|
NM_001009944.3(PKD1):c.6986G>A (p.Arg2329Gln)
|
|
|
NM_001009944.3(PKD1):c.6992C>A (p.Ala2331Glu)
|
|
|
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.7004dup (p.Tyr2336fs)
|
|
|
NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys)
|
rs2151783812
|
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NM_001009944.3(PKD1):c.7010C>G (p.Thr2337Ser)
|
|
|
NM_001009944.3(PKD1):c.7012T>C (p.Phe2338Leu)
|
|
|
NM_001009944.3(PKD1):c.7024G>A (p.Val2342Met)
|
|
|
NM_001009944.3(PKD1):c.7036G>A (p.Gly2346Ser)
|
|
|
NM_001009944.3(PKD1):c.7037G>T (p.Gly2346Val)
|
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|
NM_001009944.3(PKD1):c.7040G>A (p.Arg2347His)
|
|
|
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs)
|
rs1596548114
|
|
NM_001009944.3(PKD1):c.704C>G (p.Ala235Gly)
|
|
|
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter)
|
rs2092400157
|
|
NM_001009944.3(PKD1):c.7065+1G>A
|
rs2151783532
|
|
NM_001009944.3(PKD1):c.7065+2T>C
|
|
|
NM_001009944.3(PKD1):c.7065+2del
|
|
|
NM_001009944.3(PKD1):c.7066-2A>G
|
rs2544785397
|
|
NM_001009944.3(PKD1):c.7081G>T (p.Gly2361Cys)
|
|
|
NM_001009944.3(PKD1):c.7089G>A (p.Val2363=)
|
|
|
NM_001009944.3(PKD1):c.7108T>A (p.Cys2370Ser)
|
|
|
NM_001009944.3(PKD1):c.7109G>A (p.Cys2370Tyr)
|
|
|
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr)
|
rs2544784938
|
|
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)
|
rs1555453395
|
|
NM_001009944.3(PKD1):c.7127A>G (p.Gln2376Arg)
|
|
|
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)
|
rs752114168
|
|
NM_001009944.3(PKD1):c.7159G>A (p.Val2387Met)
|
|
|
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)
|
rs1555453360
|
|
NM_001009944.3(PKD1):c.7175G>C (p.Arg2392Pro)
|
|
|
NM_001009944.3(PKD1):c.7184A>G (p.Asn2395Ser)
|
|
|
NM_001009944.3(PKD1):c.7184dup (p.Asn2395fs)
|
|
|
NM_001009944.3(PKD1):c.7187G>A (p.Cys2396Tyr)
|
|
|
NM_001009944.3(PKD1):c.7196G>A (p.Gly2399Asp)
|
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
NM_001009944.3(PKD1):c.7205G>A (p.Arg2402Gln)
|
|
|
NM_001009944.3(PKD1):c.7209+14G>A
|
|
|
NM_001009944.3(PKD1):c.7209+1G>A
|
|
|
NM_001009944.3(PKD1):c.7209+4_7209+7del
|
|
|
NM_001009944.3(PKD1):c.7220C>T (p.Ala2407Val)
|
|
|
NM_001009944.3(PKD1):c.7222C>G (p.Arg2408Gly)
|
|
|
NM_001009944.3(PKD1):c.7223G>A (p.Arg2408His)
|
|
|
NM_001009944.3(PKD1):c.7223del (p.Arg2408fs)
|
|
|
NM_001009944.3(PKD1):c.7233C>G (p.Ser2411Arg)
|
|
|
NM_001009944.3(PKD1):c.7237_7238del (p.Lys2413fs)
|
rs2544782282
|
|
NM_001009944.3(PKD1):c.7250T>C (p.Leu2417Pro)
|
|
|
NM_001009944.3(PKD1):c.7253A>T (p.Asp2418Val)
|
|
|
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe)
|
rs1555453207
|
|
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
|
rs2432403
|
|
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
|
rs151257298
|
|
NM_001009944.3(PKD1):c.7307_7318del (p.Gly2436_Arg2439del)
|
|
|
NM_001009944.3(PKD1):c.7315C>T (p.Arg2439Trp)
|
|
|
NM_001009944.3(PKD1):c.731G>A (p.Cys244Tyr)
|
|
|
NM_001009944.3(PKD1):c.7323C>T (p.Gly2441=)
|
|
|
NM_001009944.3(PKD1):c.7327G>A (p.Gly2443Arg)
|
|
|
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.7343T>G (p.Leu2448Arg)
|
|
|
NM_001009944.3(PKD1):c.7347G>A (p.Thr2449=)
|
|
|
NM_001009944.3(PKD1):c.7357C>T (p.Arg2453Cys)
|
|
|
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del)
|
rs1391744174
|
|
NM_001009944.3(PKD1):c.736T>G (p.Ser246Ala)
|
|
|
NM_001009944.3(PKD1):c.737C>T (p.Ser246Phe)
|
|
|
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu)
|
rs539143745
|
|
NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)
|
|
|
NM_001009944.3(PKD1):c.7447G>A (p.Ala2483Thr)
|
|
|
NM_001009944.3(PKD1):c.744C>G (p.Cys248Trp)
|
|
|
NM_001009944.3(PKD1):c.7469dup (p.Val2491fs)
|
|
|
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg)
|
rs2092338268
|
|
NM_001009944.3(PKD1):c.7487del (p.Thr2496fs)
|
|
|
NM_001009944.3(PKD1):c.7489+12C>T
|
|
|
NM_001009944.3(PKD1):c.7489+5G>A
|
rs2092337963
|
|
NM_001009944.3(PKD1):c.7489+8C>T
|
|
|
NM_001009944.3(PKD1):c.7490-11C>G
|
|
|
NM_001009944.3(PKD1):c.7490-13G>T
|
|
|
NM_001009944.3(PKD1):c.7490-16G>A
|
|
|
NM_001009944.3(PKD1):c.7490-1G>A
|
|
|
NM_001009944.3(PKD1):c.7490-1G>C
|
|
|
NM_001009944.3(PKD1):c.7490-9G>A
|
|
|
NM_001009944.3(PKD1):c.7496A>G (p.His2499Arg)
|
|
|
NM_001009944.3(PKD1):c.74del (p.Gly25fs)
|
|
|
NM_001009944.3(PKD1):c.74dup (p.Gly27fs)
|
|
|
NM_001009944.3(PKD1):c.7543C>T (p.Arg2515Trp)
|
|
|
NM_001009944.3(PKD1):c.7544G>A (p.Arg2515Gln)
|
|
|
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His)
|
rs781066020
|
|
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter)
|
rs2151772321
|
|
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg)
|
rs771788496
|
|
NM_001009944.3(PKD1):c.755C>T (p.Pro252Leu)
|
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)
|
rs1555452876
|
|
NM_001009944.3(PKD1):c.7590C>T (p.Gly2530=)
|
|
|
NM_001009944.3(PKD1):c.7591dup (p.Ser2531fs)
|
|
|
NM_001009944.3(PKD1):c.7622dup (p.Arg2544fs)
|
|
|
NM_001009944.3(PKD1):c.7623G>A (p.Pro2541=)
|
|
|
NM_001009944.3(PKD1):c.7633C>T (p.Pro2545Ser)
|
|
|
NM_001009944.3(PKD1):c.7637A>G (p.His2546Arg)
|
|
|
NM_001009944.3(PKD1):c.7650C>T (p.Gly2550=)
|
|
|
NM_001009944.3(PKD1):c.7657G>A (p.Val2553Met)
|
|
|
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter)
|
rs1567184366
|
|
NM_001009944.3(PKD1):c.7672C>T (p.Gln2558Ter)
|
rs2544777318
|
|
NM_001009944.3(PKD1):c.7684G>A (p.Ala2562Thr)
|
|
|
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly)
|
rs2092327341
|
|
NM_001009944.3(PKD1):c.7703+2T>A
|
|
|
NM_001009944.3(PKD1):c.7703+5G>C
|
|
|
NM_001009944.3(PKD1):c.7709T>C (p.Leu2570Ser)
|
|
|
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val)
|
rs1555452734
|
|
NM_001009944.3(PKD1):c.771del (p.Thr258fs)
|
|
|
NM_001009944.3(PKD1):c.7730C>A (p.Pro2577His)
|
|
|
NM_001009944.3(PKD1):c.7738A>C (p.Ser2580Arg)
|
|
|
NM_001009944.3(PKD1):c.7738A>G (p.Ser2580Gly)
|
|
|
NM_001009944.3(PKD1):c.7784T>A (p.Val2595Glu)
|
|
|
NM_001009944.3(PKD1):c.7795del (p.Leu2599fs)
|
|
|
NM_001009944.3(PKD1):c.7807G>T (p.Ala2603Ser)
|
|
|
NM_001009944.3(PKD1):c.7817del (p.Gln2606fs)
|
|
|
NM_001009944.3(PKD1):c.7827del (p.Ile2609fs)
|
|
|
NM_001009944.3(PKD1):c.7832_7835dup (p.Ala2614fs)
|
|
|
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del)
|
rs2544775052
|
|
NM_001009944.3(PKD1):c.7844_7851del (p.Leu2615fs)
|
|
|
NM_001009944.3(PKD1):c.7845G>A (p.Leu2615=)
|
|
|
NM_001009944.3(PKD1):c.7849A>G (p.Thr2617Ala)
|
|
|
NM_001009944.3(PKD1):c.7859dup (p.Asn2620fs)
|
|
|
NM_001009944.3(PKD1):c.7863+1G>A
|
|
|
NM_001009944.3(PKD1):c.7864-1G>A
|
rs2092305301
|
|
NM_001009944.3(PKD1):c.7864-2A>T
|
|
|
NM_001009944.3(PKD1):c.7892_7911del (p.Glu2631fs)
|
|
|
NM_001009944.3(PKD1):c.7894C>T (p.Pro2632Ser)
|
|
|
NM_001009944.3(PKD1):c.7907G>T (p.Arg2636Leu)
|
|
|
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)
|
rs750913623
|
|
NM_001009944.3(PKD1):c.7919C>T (p.Ala2640Val)
|
|
|
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.7951G>T (p.Val2651Leu)
|
|
|
NM_001009944.3(PKD1):c.7951del (p.Val2651fs)
|
rs2151766847
|
|
NM_001009944.3(PKD1):c.7955C>G (p.Ser2652Cys)
|
|
|
NM_001009944.3(PKD1):c.796C>T (p.Gln266Ter)
|
rs2151823901
|
|
NM_001009944.3(PKD1):c.7973dup (p.Asp2659fs)
|
|
|
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
|
rs757768731
|
|
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.7996G>A (p.Ala2666Thr)
|
|
|
NM_001009944.3(PKD1):c.8000C>T (p.Ala2667Val)
|
|
|
NM_001009944.3(PKD1):c.8006C>T (p.Ala2669Val)
|
|
|
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter)
|
rs2092301272
|
|
NM_001009944.3(PKD1):c.8016+1G>A
|
rs2544768869
|
|
NM_001009944.3(PKD1):c.8016+2T>C
|
rs1596536505
|
|
NM_001009944.3(PKD1):c.8016+5G>T
|
|
|
NM_001009944.3(PKD1):c.8017-10C>T
|
|
|
NM_001009944.3(PKD1):c.8018_8019del
|
|
|
NM_001009944.3(PKD1):c.8024G>C (p.Ser2675Thr)
|
|
|
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile)
|
rs1269793804
|
|
NM_001009944.3(PKD1):c.8032C>T (p.Leu2678Phe)
|
|
|
NM_001009944.3(PKD1):c.8035G>A (p.Val2679Ile)
|
|
|
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs)
|
rs2092262890
|
|
NM_001009944.3(PKD1):c.8054_8055delinsC (p.Lys2685fs)
|
|
|
NM_001009944.3(PKD1):c.8065C>T (p.His2689Tyr)
|
|
|
NM_001009944.3(PKD1):c.8072T>A (p.Leu2691Gln)
|
rs2544758004
|
|
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter)
|
rs1222094213
|
|
NM_001009944.3(PKD1):c.8110G>T (p.Ala2704Ser)
|
|
|
NM_001009944.3(PKD1):c.8115C>T (p.Gly2705=)
|
|
|
NM_001009944.3(PKD1):c.8117C>T (p.Thr2706Ile)
|
|
|
NM_001009944.3(PKD1):c.8125C>T (p.Pro2709Ser)
|
|
|
NM_001009944.3(PKD1):c.8131G>A (p.Ala2711Thr)
|
|
|
NM_001009944.3(PKD1):c.8137G>A (p.Gly2713Arg)
|
|
|
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu)
|
rs1395231369
|
|
NM_001009944.3(PKD1):c.8150delinsATCCG (p.Leu2717fs)
|
|
|
NM_001009944.3(PKD1):c.8161+2_8161+3delinsGT
|
|
|
NM_001009944.3(PKD1):c.8161+6G>T
|
|
|
NM_001009944.3(PKD1):c.8162-1G>A
|
rs1555451430
|
|
NM_001009944.3(PKD1):c.8171T>A (p.Ile2724Asn)
|
|
|
NM_001009944.3(PKD1):c.8172C>T (p.Ile2724=)
|
|
|
NM_001009944.3(PKD1):c.8183G>T (p.Ser2728Ile)
|
|
|
NM_001009944.3(PKD1):c.8186C>A (p.Ser2729Ter)
|
|
|
NM_001009944.3(PKD1):c.8197G>C (p.Ala2733Pro)
|
|
|
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs)
|
rs1596527744
|
|
NM_001009944.3(PKD1):c.8222C>G (p.Ala2741Gly)
|
|
|
NM_001009944.3(PKD1):c.8239A>G (p.Met2747Val)
|
|
|
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs)
|
rs1596527579
|
|
NM_001009944.3(PKD1):c.8240T>C (p.Met2747Thr)
|
|
|
NM_001009944.3(PKD1):c.8242G>C (p.Val2748Leu)
|
|
|
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter)
|
rs2092205600
|
|
NM_001009944.3(PKD1):c.825del (p.Thr276fs)
|
|
|
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer)
|
rs2151756041
|
|
NM_001009944.3(PKD1):c.8273C>T (p.Ala2758Val)
|
|
|
NM_001009944.3(PKD1):c.827C>G (p.Thr276Ser)
|
|
|
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.8288T>C (p.Leu2763Pro)
|
rs2092204260
|
|
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)
|
rs1596527405
|
|
NM_001009944.3(PKD1):c.8299C>G (p.Arg2767Gly)
|
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
NM_001009944.3(PKD1):c.8299_8310del (p.Arg2767_Asn2770del)
|
|
|
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu)
|
rs1456510041
|
|
NM_001009944.3(PKD1):c.8302_8305del (p.Val2768fs)
|
|
|
NM_001009944.3(PKD1):c.8304_8326del (p.Leu2769fs)
|
|
|
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs)
|
rs2092202856
|
|
NM_001009944.3(PKD1):c.8337_8366delinsTC (p.Glu2779fs)
|
|
|
NM_001009944.3(PKD1):c.8343del (p.Ile2781fs)
|
|
|
NM_001009944.3(PKD1):c.8354G>A (p.Gly2785Asp)
|
rs2544745312
|
|
NM_001009944.3(PKD1):c.8359C>G (p.Arg2787Gly)
|
|
|
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp)
|
rs761060813
|
|
NM_001009944.3(PKD1):c.8363C>T (p.Ser2788Leu)
|
|
|
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs)
|
rs1057518604
|
|
NM_001009944.3(PKD1):c.8378T>C (p.Leu2793Pro)
|
|
|
NM_001009944.3(PKD1):c.8382_8386del (p.Cys2795fs)
|
|
|
NM_001009944.3(PKD1):c.8398C>T (p.Pro2800Ser)
|
|
|
NM_001009944.3(PKD1):c.8407G>C (p.Gly2803Arg)
|
|
|
NM_001009944.3(PKD1):c.8408G>A (p.Gly2803Asp)
|
|
|
NM_001009944.3(PKD1):c.8408_8409delinsT (p.Gly2803fs)
|
|
|
NM_001009944.3(PKD1):c.8426C>A (p.Pro2809His)
|
|
|
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter)
|
rs777608163
|
|
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=)
|
rs886038371
|
|
NM_001009944.3(PKD1):c.8447T>A (p.Leu2816Gln)
|
|
|
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)
|
rs1567177684
|
|
NM_001009944.3(PKD1):c.8457_8458del (p.Leu2819_Ser2820insTer)
|
|
|
NM_001009944.3(PKD1):c.846_852del (p.Ser286_Gly287insTer)
|
|
|
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter)
|
rs2092196354
|
|
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro)
|
rs1555451143
|
|
NM_001009944.3(PKD1):c.8487G>A (p.Val2829=)
|
|
|
NM_001009944.3(PKD1):c.8491dup (p.Ser2831fs)
|
|
|
NM_001009944.3(PKD1):c.8498C>T (p.Pro2833Leu)
|
|
|
NM_001009944.3(PKD1):c.8503C>T (p.Pro2835Ser)
|
|
|
NM_001009944.3(PKD1):c.8523C>G (p.Asn2841Lys)
|
|
|
NM_001009944.3(PKD1):c.8524dup (p.Tyr2842fs)
|
|
|
NM_001009944.3(PKD1):c.8534CCA[3] (p.Thr2846_Lys2847insThr)
|
|
|
NM_001009944.3(PKD1):c.8549C>T (p.Ser2850Leu)
|
|
|
NM_001009944.3(PKD1):c.8553G>A (p.Met2851Ile)
|
|
|
NM_001009944.3(PKD1):c.8554G>C (p.Ala2852Pro)
|
|
|
NM_001009944.3(PKD1):c.8558T>C (p.Phe2853Ser)
|
|
|
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter)
|
rs1364976535
|
|
NM_001009944.3(PKD1):c.8566C>T (p.Gln2856Ter)
|
rs2092189640
|
|
NM_001009944.3(PKD1):c.8569G>A (p.Ala2857Thr)
|
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.856_862dup (p.Gln288fs)
|
|
|
NM_001009944.3(PKD1):c.8584C>T (p.Pro2862Ser)
|
|
|
NM_001009944.3(PKD1):c.858T>A (p.Ser286=)
|
|
|
NM_001009944.3(PKD1):c.8608C>T (p.Arg2870Cys)
|
|
|
NM_001009944.3(PKD1):c.8634C>G (p.Asn2878Lys)
|
|
|
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
|
rs2544742591
|
|
NM_001009944.3(PKD1):c.8653C>T (p.Arg2885Trp)
|
|
|
NM_001009944.3(PKD1):c.8657_8661del (p.Gly2886fs)
|
|
|
NM_001009944.3(PKD1):c.8661C>G (p.His2887Gln)
|
|
|
NM_001009944.3(PKD1):c.8669C>A (p.Ser2890Tyr)
|
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.8684A>T (p.Asn2895Ile)
|
|
|
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)
|
rs1567176750
|
|
NM_001009944.3(PKD1):c.8699A>T (p.Gln2900Leu)
|
|
|
NM_001009944.3(PKD1):c.8703_8704del (p.Gln2902fs)
|
|
|
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)
|
rs1555450968
|
|
NM_001009944.3(PKD1):c.8705A>C (p.Gln2902Pro)
|
|
|
NM_001009944.3(PKD1):c.8705A>G (p.Gln2902Arg)
|
rs1400163523
|
|
NM_001009944.3(PKD1):c.8707G>T (p.Ala2903Ser)
|
|
|
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs)
|
rs2151754069
|
|
NM_001009944.3(PKD1):c.8725G>A (p.Val2909Ile)
|
|
|
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)
|
rs747638599
|
|
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)
|
rs954124689
|
|
NM_001009944.3(PKD1):c.8795A>T (p.His2932Leu)
|
rs201524173
|
|
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys)
|
rs2151752267
|
|
NM_001009944.3(PKD1):c.8834A>G (p.Tyr2945Cys)
|
|
|
NM_001009944.3(PKD1):c.884C>A (p.Ala295Asp)
|
rs745988311
|
|
NM_001009944.3(PKD1):c.8864A>G (p.His2955Arg)
|
|
|
NM_001009944.3(PKD1):c.8867A>G (p.Asn2956Ser)
|
|
|
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)
|
rs750780241
|
|
NM_001009944.3(PKD1):c.8879_8880delinsTT (p.Ser2960Ile)
|
|
|
NM_001009944.3(PKD1):c.8891G>T (p.Arg2964Leu)
|
|
|
NM_001009944.3(PKD1):c.8894C>T (p.Pro2965Leu)
|
|
|
NM_001009944.3(PKD1):c.8909G>C (p.Gly2970Ala)
|
|
|
NM_001009944.3(PKD1):c.8909del (p.Gly2970fs)
|
rs2544737008
|
|
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg)
|
rs757527492
|
|
NM_001009944.3(PKD1):c.8920C>G (p.Arg2974Gly)
|
|
|
NM_001009944.3(PKD1):c.8930C>T (p.Thr2977Ile)
|
|
|
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser)
|
rs1596523677
|
|
NM_001009944.3(PKD1):c.8936T>C (p.Phe2979Ser)
|
|
|
NM_001009944.3(PKD1):c.8945dup (p.Ser2984fs)
|
|
|
NM_001009944.3(PKD1):c.8948+1del
|
|
|
NM_001009944.3(PKD1):c.8949G>A (p.Gly2983=)
|
|
|
NM_001009944.3(PKD1):c.8953A>G (p.Arg2985Gly)
|
|
|
NM_001009944.3(PKD1):c.8956G>C (p.Asp2986His)
|
|
|
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)
|
rs1555459084
|
|
NM_001009944.3(PKD1):c.8971T>G (p.Tyr2991Asp)
|
|
|
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)
|
rs1567174997
|
|
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)
|
rs1596522636
|
|
NM_001009944.3(PKD1):c.8973_8975del (p.His2992del)
|
|
|
NM_001009944.3(PKD1):c.8978T>A (p.Leu2993Gln)
|
rs1555450487
|
|
NM_001009944.3(PKD1):c.898G>A (p.Val300Ile)
|
|
|
NM_001009944.3(PKD1):c.8998C>G (p.Arg3000Gly)
|
|
|
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro)
|
rs746460070
|
|
NM_001009944.3(PKD1):c.9003G>A (p.Trp3001Ter)
|
|
|
NM_001009944.3(PKD1):c.9005C>T (p.Ser3002Leu)
|
|
|
NM_001009944.3(PKD1):c.9016G>C (p.Val3006Leu)
|
|
|
NM_001009944.3(PKD1):c.9019T>A (p.Ser3007Thr)
|
|
|
NM_001009944.3(PKD1):c.9020C>T (p.Ser3007Phe)
|
|
|
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln)
|
rs750501225
|
|
NM_001009944.3(PKD1):c.902C>T (p.Thr301Ile)
|
|
|
NM_001009944.3(PKD1):c.9031T>A (p.Tyr3011Asn)
|
|
|
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.9072G>A (p.Val3024=)
|
|
|
NM_001009944.3(PKD1):c.9074G>C (p.Trp3025Ser)
|
|
|
NM_001009944.3(PKD1):c.9075G>A (p.Trp3025Ter)
|
|
|
NM_001009944.3(PKD1):c.9105G>T (p.Glu3035Asp)
|
|
|
NM_001009944.3(PKD1):c.910C>G (p.Arg304Gly)
|
rs543328728
|
|
NM_001009944.3(PKD1):c.9111_9132del (p.Arg3039fs)
|
|
|
NM_001009944.3(PKD1):c.9112C>A (p.Pro3038Thr)
|
|
|
NM_001009944.3(PKD1):c.9112C>T (p.Pro3038Ser)
|
|
|
NM_001009944.3(PKD1):c.9115C>T (p.Arg3039Cys)
|
rs200522524
|
|
NM_001009944.3(PKD1):c.9154G>A (p.Gly3052Ser)
|
|
|
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
|
|
|
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.9178dup (p.Ser3060fs)
|
|
|
NM_001009944.3(PKD1):c.9182A>G (p.His3061Arg)
|
|
|
NM_001009944.3(PKD1):c.9184G>C (p.Val3062Leu)
|
|
|
NM_001009944.3(PKD1):c.9186C>A (p.Val3062=)
|
|
|
NM_001009944.3(PKD1):c.9188G>C (p.Arg3063Pro)
|
|
|
NM_001009944.3(PKD1):c.9195_9199delinsCCTT (p.Phe3066fs)
|
|
|
NM_001009944.3(PKD1):c.9200C>G (p.Pro3067Arg)
|
|
|
NM_001009944.3(PKD1):c.9201+1G>A
|
rs2151749304
|
|
NM_001009944.3(PKD1):c.9201+4A>G
|
|
|
NM_001009944.3(PKD1):c.9201+5G>A
|
rs1596521826
|
|
NM_001009944.3(PKD1):c.9201T>G (p.Pro3067=)
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NM_001009944.3(PKD1):c.9202-13T>A
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NM_001009944.3(PKD1):c.9202-3C>A
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NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
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rs1567173924
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NM_001009944.3(PKD1):c.9262_9263insGT (p.Tyr3088fs)
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NM_001009944.3(PKD1):c.9262dup (p.Tyr3088fs)
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NM_001009944.3(PKD1):c.9264del (p.Thr3087_Tyr3088insTer)
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NM_001009944.3(PKD1):c.9265A>G (p.Met3089Val)
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NM_001009944.3(PKD1):c.928G>A (p.Gly310Ser)
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NM_001009944.3(PKD1):c.9296del (p.Asp3099fs)
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rs2544730531
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NM_001009944.3(PKD1):c.9302T>A (p.Leu3101Ter)
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rs2544730498
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NM_001009944.3(PKD1):c.9329C>G (p.Pro3110Arg)
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NM_001009944.3(PKD1):c.932_960del (p.Ser311fs)
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NM_001009944.3(PKD1):c.934G>C (p.Ala312Pro)
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NM_001009944.3(PKD1):c.9368T>A (p.Leu3123His)
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NM_001009944.3(PKD1):c.9395C>G (p.Ser3132Ter)
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NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu)
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rs2092119222
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NM_001009944.3(PKD1):c.9398G>A (p.Gly3133Asp)
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NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
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rs1555449635
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NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
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NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu)
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rs1358566538
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NM_001009944.3(PKD1):c.9413T>A (p.Val3138Glu)
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NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro)
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rs2092051851
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NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg)
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rs1596515144
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NM_001009944.3(PKD1):c.9431G>A (p.Gly3144Glu)
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NM_001009944.3(PKD1):c.9451del (p.His3151fs)
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NM_001009944.3(PKD1):c.9461T>C (p.Leu3154Pro)
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NM_001009944.3(PKD1):c.946G>A (p.Ala316Thr)
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NM_001009944.3(PKD1):c.9481C>T (p.His3161Tyr)
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NM_001009944.3(PKD1):c.9504C>G (p.Phe3168Leu)
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NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val)
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rs2092048001
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NM_001009944.3(PKD1):c.9522del (p.His3174fs)
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NM_001009944.3(PKD1):c.9535G>A (p.Val3179Met)
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NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)
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rs2092047055
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NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)
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rs1485297878
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NM_001009944.3(PKD1):c.9555G>A (p.Trp3185Ter)
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NM_001009944.3(PKD1):c.9556C>G (p.His3186Asp)
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NM_001009944.3(PKD1):c.9559G>A (p.Asp3187Asn)
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NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)
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rs869312944
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NM_001009944.3(PKD1):c.9562A>T (p.Asn3188Tyr)
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NM_001009944.3(PKD1):c.9563_9568+2delinsCTCGG
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NM_001009944.3(PKD1):c.9569-1G>A
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rs2151741177
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NM_001009944.3(PKD1):c.9588C>G (p.Phe3196Leu)
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NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter)
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rs1474701377
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NM_001009944.3(PKD1):c.9595_9618del (p.His3199_Gln3206del)
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NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe)
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rs1422698524
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NM_001009944.3(PKD1):c.9604G>A (p.Val3202Ile)
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NM_001009944.3(PKD1):c.9607_9608del (p.Arg3203fs)
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NM_001009944.3(PKD1):c.9611A>T (p.Asp3204Val)
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rs1596513913
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NM_001009944.3(PKD1):c.9622G>A (p.Ala3208Thr)
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NM_001009944.3(PKD1):c.9654G>A (p.Trp3218Ter)
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NM_001009944.3(PKD1):c.9656T>G (p.Leu3219Arg)
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rs2544715606
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NM_001009944.3(PKD1):c.9660G>A (p.Ser3220=)
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NM_001009944.3(PKD1):c.9672G>C (p.Glu3224Asp)
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NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del)
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rs1555449461
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NM_001009944.3(PKD1):c.9678C>G (p.Asn3226Lys)
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NM_001009944.3(PKD1):c.9678_9679insA (p.Gly3227fs)
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NM_001009944.3(PKD1):c.9682_9683dup (p.Leu3229fs)
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NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs)
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rs2151740671
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NM_001009944.3(PKD1):c.9685C>G (p.Leu3229Val)
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NM_001009944.3(PKD1):c.9686del (p.Leu3229fs)
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NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter)
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rs2151740638
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NM_001009944.3(PKD1):c.9695A>G (p.Lys3232Arg)
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rs988225678
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NM_001009944.3(PKD1):c.9714C>T (p.Ser3238=)
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NM_001009944.3(PKD1):c.9715G>A (p.Asp3239Asn)
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rs774484157
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NM_001009944.3(PKD1):c.9731G>A (p.Arg3244His)
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NM_001009944.3(PKD1):c.9760C>T (p.Gln3254Ter)
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rs2544713742
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NM_001009944.3(PKD1):c.9773_9787del (p.Phe3258_Ile3262del)
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NM_001009944.3(PKD1):c.9777C>G (p.Asp3259Glu)
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NM_001009944.3(PKD1):c.9789G>T (p.Trp3263Cys)
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NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr)
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rs1188643869
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NM_001009944.3(PKD1):c.97T>C (p.Cys33Arg)
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NM_001009944.3(PKD1):c.9806G>A (p.Arg3269Gln)
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NM_001009944.3(PKD1):c.9818G>C (p.Ser3273Thr)
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NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs)
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rs1596512729
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NM_001009944.3(PKD1):c.9827C>G (p.Thr3276Ser)
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NM_001009944.3(PKD1):c.9832A>G (p.Ile3278Val)
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NM_001009944.3(PKD1):c.9834C>G (p.Ile3278Met)
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NM_001009944.3(PKD1):c.9835C>T (p.Gln3279Ter)
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NM_001009944.3(PKD1):c.9842C>G (p.Ala3281Gly)
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NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
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rs2092020811
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NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
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rs2544712716
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NM_001009944.3(PKD1):c.9886dup (p.Ala3296fs)
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NM_001009944.3(PKD1):c.989G>A (p.Arg330His)
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NM_001009944.3(PKD1):c.9904G>A (p.Val3302Ile)
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NM_001009944.3(PKD1):c.9904G>C (p.Val3302Leu)
|
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NM_001009944.3(PKD1):c.9904G>T (p.Val3302Phe)
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NM_001009944.3(PKD1):c.9924-1G>C
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rs2151738493
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NM_001009944.3(PKD1):c.9924-9_9924-7del
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rs892390487
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NM_001009944.3(PKD1):c.9930dup (p.His3311fs)
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NM_001009944.3(PKD1):c.9931C>T (p.His3311Tyr)
|
rs1442974903
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NM_001009944.3(PKD1):c.994C>T (p.His332Tyr)
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NM_001009944.3(PKD1):c.9965C>T (p.Thr3322Ile)
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NM_001009944.3(PKD1):c.9983dup (p.Ser3329fs)
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NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met)
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rs541894980
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NM_001009944.3(PKD1):c.9997G>C (p.Val3333Leu)
|
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