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_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln)
|
rs142129358
|
0.00924
|
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)
|
rs145776888
|
0.00910
|
NM_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
|
0.00642
|
NM_001009944.3(PKD1):c.8161+8G>A
|
rs199569003
|
0.00559
|
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=)
|
rs144634185
|
0.00512
|
NM_001009944.3(PKD1):c.11411+18C>T
|
rs183078730
|
0.00483
|
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=)
|
rs202207855
|
0.00479
|
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=)
|
rs116216040
|
0.00469
|
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=)
|
rs62038811
|
0.00448
|
NM_001009944.3(PKD1):c.7065+21G>A
|
rs9930234
|
0.00418
|
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=)
|
rs139399947
|
0.00411
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)
|
rs141101590
|
0.00388
|
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)
|
rs149605181
|
0.00383
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00364
|
NM_001009944.3(PKD1):c.276G>A (p.Ala92=)
|
rs374518168
|
0.00354
|
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)
|
rs145955373
|
0.00349
|
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=)
|
rs57870377
|
0.00331
|
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln)
|
rs140189010
|
0.00328
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00324
|
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=)
|
rs138648495
|
0.00324
|
NM_001009944.3(PKD1):c.3296-15G>A
|
rs201704201
|
0.00316
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00272
|
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=)
|
rs143013095
|
0.00239
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp)
|
rs143953714
|
0.00215
|
NM_001009944.3(PKD1):c.7863+11C>T
|
rs368629973
|
0.00214
|
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)
|
rs369397443
|
0.00209
|
NM_001009944.3(PKD1):c.837G>A (p.Gly279=)
|
rs372124319
|
0.00199
|
NM_001009944.3(PKD1):c.10406-4C>T
|
rs151095649
|
0.00198
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_001009944.3(PKD1):c.11538-11C>T
|
rs377692278
|
0.00139
|
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=)
|
rs146745256
|
0.00137
|
NM_001009944.3(PKD1):c.11017-3C>T
|
rs185355445
|
0.00135
|
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
|
rs199569478
|
0.00125
|
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
NM_001009944.3(PKD1):c.588C>T (p.Ser196=)
|
rs776302294
|
0.00116
|
NM_001009944.3(PKD1):c.8161+12C>T
|
rs375283810
|
0.00113
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00109
|
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=)
|
rs141138826
|
0.00094
|
NM_001009944.3(PKD1):c.2109C>T (p.His703=)
|
rs527655141
|
0.00093
|
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=)
|
rs144663361
|
0.00092
|
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)
|
rs148496347
|
0.00091
|
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=)
|
rs149623670
|
0.00090
|
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser)
|
rs200279710
|
0.00076
|
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)
|
rs201509188
|
0.00075
|
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=)
|
rs570750726
|
0.00073
|
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=)
|
rs12102740
|
0.00073
|
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=)
|
rs149924232
|
0.00068
|
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=)
|
rs373854628
|
0.00068
|
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=)
|
rs117955701
|
0.00061
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)
|
rs140162759
|
0.00058
|
NM_001009944.3(PKD1):c.9713-4C>T
|
rs200434097
|
0.00058
|
NM_001009944.3(PKD1):c.12139-5C>T
|
rs146430229
|
0.00055
|
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=)
|
rs547262346
|
0.00054
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00045
|
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=)
|
rs2575316
|
0.00045
|
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln)
|
rs146494724
|
0.00044
|
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=)
|
rs148159605
|
0.00044
|
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=)
|
rs768813212
|
0.00041
|
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)
|
rs748887038
|
0.00040
|
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=)
|
rs181130940
|
0.00040
|
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val)
|
rs780145654
|
0.00039
|
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)
|
rs140662778
|
0.00037
|
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met)
|
rs191685707
|
0.00035
|
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)
|
rs201991587
|
0.00035
|
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=)
|
rs373880615
|
0.00034
|
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=)
|
rs375408086
|
0.00033
|
NM_001009944.3(PKD1):c.951T>C (p.Ala317=)
|
rs540366995
|
0.00032
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_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.4015G>A (p.Val1339Met)
|
rs147141131
|
0.00024
|
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=)
|
rs376075101
|
0.00023
|
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=)
|
rs145648167
|
0.00023
|
NM_001009944.3(PKD1):c.10822-8C>G
|
rs9924796
|
0.00022
|
NM_001009944.3(PKD1):c.8162-12G>A
|
rs375993328
|
0.00022
|
NM_001009944.3(PKD1):c.288-20G>A
|
rs572319823
|
0.00021
|
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)
|
rs950293866
|
0.00020
|
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr)
|
rs201599671
|
0.00020
|
NM_001009944.3(PKD1):c.6915+19C>T
|
rs371376951
|
0.00020
|
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=)
|
rs556575921
|
0.00020
|
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=)
|
rs376838860
|
0.00019
|
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=)
|
rs759092782
|
0.00019
|
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)
|
rs372882189
|
0.00019
|
NM_001009944.3(PKD1):c.11412-6C>T
|
rs367775096
|
0.00018
|
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=)
|
rs377662680
|
0.00018
|
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp)
|
rs746771378
|
0.00017
|
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=)
|
rs142391112
|
0.00017
|
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His)
|
rs375198888
|
0.00017
|
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln)
|
rs759950842
|
0.00016
|
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=)
|
rs767721989
|
0.00016
|
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=)
|
rs146103326
|
0.00016
|
NM_001009944.3(PKD1):c.543C>T (p.Val181=)
|
rs1365608859
|
0.00016
|
NM_001009944.3(PKD1):c.10161C>T (p.His3387=)
|
rs143350197
|
0.00015
|
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=)
|
rs530703053
|
0.00015
|
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu)
|
rs200646755
|
0.00015
|
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=)
|
rs372759889
|
0.00015
|
NM_001009944.3(PKD1):c.8176C>T (p.Leu2726=)
|
rs573754849
|
0.00015
|
NM_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.4835C>T (p.Thr1612Met)
|
rs767665300
|
0.00013
|
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=)
|
rs183090717
|
0.00013
|
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu)
|
rs145762096
|
0.00013
|
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys)
|
rs781114712
|
0.00013
|
NM_001009944.3(PKD1):c.726T>C (p.Phe242=)
|
rs750727364
|
0.00013
|
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=)
|
rs143124196
|
0.00013
|
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser)
|
rs199947459
|
0.00012
|
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=)
|
rs561467860
|
0.00011
|
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=)
|
rs372696163
|
0.00011
|
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=)
|
rs757969966
|
0.00011
|
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp)
|
rs769208706
|
0.00010
|
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=)
|
rs990065629
|
0.00010
|
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala)
|
rs766549097
|
0.00010
|
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=)
|
rs772143717
|
0.00010
|
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln)
|
rs62038819
|
0.00010
|
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met)
|
rs117896488
|
0.00010
|
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=)
|
rs201417193
|
0.00009
|
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe)
|
rs543561238
|
0.00009
|
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=)
|
rs146915755
|
0.00009
|
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp)
|
rs751031560
|
0.00009
|
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys)
|
rs374629549
|
0.00009
|
NM_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.11577G>T (p.Pro3859=)
|
rs374609310
|
0.00007
|
NM_001009944.3(PKD1):c.11713-3C>T
|
rs754015180
|
0.00007
|
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=)
|
rs1344519371
|
0.00007
|
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr)
|
rs779342040
|
0.00007
|
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys)
|
rs554493059
|
0.00007
|
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr)
|
rs555901411
|
0.00007
|
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val)
|
rs769636582
|
0.00006
|
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu)
|
rs151308544
|
0.00006
|
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val)
|
rs1353004865
|
0.00006
|
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys)
|
rs777608163
|
0.00006
|
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met)
|
rs544100161
|
0.00006
|
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys)
|
rs543328728
|
0.00006
|
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=)
|
rs748123570
|
0.00005
|
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser)
|
rs752995047
|
0.00005
|
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=)
|
rs759043048
|
0.00005
|
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys)
|
rs773857360
|
0.00005
|
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser)
|
rs886265852
|
0.00005
|
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys)
|
rs531854741
|
0.00005
|
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=)
|
rs770635587
|
0.00005
|
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile)
|
rs754956606
|
0.00004
|
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser)
|
rs781492044
|
0.00004
|
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys)
|
rs553106581
|
0.00004
|
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg)
|
rs776110243
|
0.00004
|
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=)
|
rs377661579
|
0.00004
|
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu)
|
rs138096771
|
0.00004
|
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=)
|
rs142035983
|
0.00004
|
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
|
rs760993331
|
0.00004
|
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser)
|
rs544092291
|
0.00004
|
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro)
|
rs773527738
|
0.00004
|
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=)
|
rs556708086
|
0.00004
|
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys)
|
rs754486194
|
0.00004
|
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met)
|
rs780043149
|
0.00004
|
NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys)
|
rs367918229
|
0.00004
|
NM_001009944.3(PKD1):c.7767C>T (p.His2589=)
|
rs555499745
|
0.00004
|
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg)
|
rs202086892
|
0.00004
|
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=)
|
rs535771951
|
0.00004
|
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His)
|
rs1063405
|
0.00004
|
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr)
|
rs533152302
|
0.00004
|
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile)
|
rs200120839
|
0.00003
|
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp)
|
rs889547396
|
0.00003
|
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser)
|
rs1320256969
|
0.00003
|
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)
|
rs932577597
|
0.00003
|
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)
|
rs773329559
|
0.00003
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=)
|
rs781761438
|
0.00003
|
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter)
|
rs1567200098
|
0.00003
|
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser)
|
rs552542784
|
0.00003
|
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr)
|
rs779607937
|
0.00003
|
NM_001009944.3(PKD1):c.5645C>T (p.Thr1882Met)
|
rs772716160
|
0.00003
|
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu)
|
rs767363184
|
0.00003
|
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr)
|
rs771364071
|
0.00003
|
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser)
|
rs1211697062
|
0.00003
|
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys)
|
rs765408067
|
0.00002
|
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val)
|
rs775988021
|
0.00002
|
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys)
|
rs1085307552
|
0.00002
|
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=)
|
rs754575596
|
0.00002
|
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys)
|
rs755462601
|
0.00002
|
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu)
|
rs781681199
|
0.00002
|
NM_001009944.3(PKD1):c.747C>T (p.Ser249=)
|
rs568816990
|
0.00002
|
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly)
|
rs3874655
|
0.00002
|
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu)
|
rs769345341
|
0.00002
|
NM_001009944.3(PKD1):c.8795A>G (p.His2932Arg)
|
rs201524173
|
0.00002
|
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile)
|
rs966307189
|
0.00002
|
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
|
rs776866974
|
0.00002
|
NM_001009944.3(PKD1):c.9713-17C>G
|
rs766238514
|
0.00002
|
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys)
|
rs1287231217
|
0.00001
|
NM_001009944.3(PKD1):c.10050+10G>C
|
rs746704728
|
0.00001
|
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs)
|
rs2091618729
|
0.00001
|
NM_001009944.3(PKD1):c.11942C>T (p.Ala3981Val)
|
rs1424119004
|
0.00001
|
NM_001009944.3(PKD1):c.12526C>T (p.Pro4176Ser)
|
rs755976712
|
0.00001
|
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser)
|
rs1311664031
|
0.00001
|
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile)
|
rs928084406
|
0.00001
|
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro)
|
rs2369063
|
0.00001
|
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)
|
rs1163700577
|
0.00001
|
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val)
|
rs1393997103
|
0.00001
|
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly)
|
rs751293870
|
0.00001
|
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser)
|
rs1474271392
|
0.00001
|
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=)
|
rs776410570
|
0.00001
|
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter)
|
rs1183899324
|
0.00001
|
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met)
|
rs2575314
|
0.00001
|
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro)
|
rs541777274
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
|
rs374424212
|
0.00001
|
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn)
|
rs1199050207
|
0.00001
|
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met)
|
rs1114167373
|
0.00001
|
NM_001009944.3(PKD1):c.6446C>T (p.Pro2149Leu)
|
rs982097679
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr)
|
rs749515571
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile)
|
rs566531762
|
0.00001
|
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=)
|
rs377029031
|
0.00001
|
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu)
|
rs760592410
|
0.00001
|
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met)
|
rs1456510041
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.9202-16G>A
|
rs1389523126
|
0.00001
|
NM_001009944.3(PKD1):c.9688G>C (p.Val3230Leu)
|
rs747054731
|
0.00001
|
NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys)
|
rs757771138
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:2089795-2185919)
|
|
|
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
|
|
|
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
|
|
|
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs)
|
rs1567165997
|
|
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter)
|
rs2151728536
|
|
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter)
|
rs2151727019
|
|
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)
|
rs1064794206
|
|
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)
|
rs1385274120
|
|
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs)
|
rs2091883381
|
|
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg)
|
rs752503970
|
|
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs)
|
rs2151710519
|
|
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)
|
rs1378307448
|
|
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=)
|
rs745763060
|
|
NM_001009944.3(PKD1):c.10619-13del
|
rs562614426
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])
|
rs777460677
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4])
|
rs777460677
|
|
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)
|
rs1555447011
|
|
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe)
|
rs2091723749
|
|
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met)
|
rs1428207672
|
|
NM_001009944.3(PKD1):c.108del (p.Cys37fs)
|
rs2092941062
|
|
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser)
|
rs2091705970
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
NM_001009944.3(PKD1):c.11156+1G>T
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)
|
rs1555446576
|
|
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala)
|
rs780574700
|
|
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)
|
rs1555446411
|
|
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs)
|
rs1567155179
|
|
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro)
|
rs546924823
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)
|
rs201085734
|
|
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup)
|
rs2091618795
|
|
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)
|
rs2091619053
|
|
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val)
|
rs142455071
|
|
NM_001009944.3(PKD1):c.11412-7C>T
|
rs553377243
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)
|
rs2151698069
|
|
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)
|
rs1555445740
|
|
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)
|
rs199476098
|
|
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter)
|
rs199476098
|
|
NM_001009944.3(PKD1):c.11537+2T>A
|
rs2151697557
|
|
NM_001009944.3(PKD1):c.11538-4G>T
|
rs763279854
|
|
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs)
|
rs724159823
|
|
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro)
|
rs2151695909
|
|
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter)
|
rs2091580237
|
|
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)
|
rs1555445585
|
|
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg)
|
rs1555445569
|
|
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val)
|
rs1251469390
|
|
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs)
|
rs2151695024
|
|
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter)
|
rs2091572700
|
|
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter)
|
rs2091498706
|
|
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)
|
rs2091493090
|
|
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)
|
rs1596476503
|
|
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=)
|
rs77634115
|
|
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)
|
rs1161012209
|
|
NM_001009944.3(PKD1):c.12004-2A>C
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.12004-2A>G
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.1202-1G>A
|
rs2151822688
|
|
NM_001009944.3(PKD1):c.1202-9G>A
|
rs1596588606
|
|
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)
|
rs1555444985
|
|
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
|
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter)
|
rs1218054241
|
|
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg)
|
rs767579073
|
|
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)
|
rs199476094
|
|
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe)
|
rs186160250
|
|
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)
|
rs1060499718
|
|
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)
|
rs2091437893
|
|
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs)
|
rs2151680679
|
|
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)
|
rs1282668884
|
|
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His)
|
rs36221080
|
|
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
|
|
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)
|
rs199476095
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)
|
rs2091391674
|
|
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)
|
rs1181168635
|
|
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln)
|
rs1188304476
|
|
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=)
|
rs375443308
|
|
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)
|
rs777990224
|
|
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr)
|
rs2092660647
|
|
NM_001009944.3(PKD1):c.1326del (p.Ala443fs)
|
rs2151822381
|
|
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs)
|
rs2151820943
|
|
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)
|
rs58598099
|
|
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs)
|
rs2151820655
|
|
NM_001009944.3(PKD1):c.1606+1G>A
|
rs2151820539
|
|
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs)
|
rs3072277
|
|
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His)
|
rs1382845038
|
|
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)
|
rs1555462438
|
|
NM_001009944.3(PKD1):c.1722+2T>C
|
rs886041836
|
|
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)
|
rs1596582702
|
|
NM_001009944.3(PKD1):c.1849+1G>T
|
rs2092628618
|
|
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp)
|
rs763213387
|
|
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter)
|
rs1348307652
|
|
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs)
|
rs2151816205
|
|
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2097+1G>A
|
rs2151816064
|
|
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln)
|
rs527655141
|
|
NM_001009944.3(PKD1):c.215+2_215+3del
|
rs2092939625
|
|
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs)
|
rs2092600549
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs)
|
rs1555457807
|
|
NM_001009944.3(PKD1):c.2659del (p.Trp887fs)
|
rs2092593850
|
|
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter)
|
rs2151812964
|
|
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter)
|
rs1339097856
|
|
NM_001009944.3(PKD1):c.2853+1G>A
|
rs2151812559
|
|
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=)
|
rs1324429294
|
|
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter)
|
rs753261451
|
|
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser)
|
rs28681051
|
|
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)
|
rs2151806438
|
|
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser)
|
rs2151804604
|
|
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)
|
rs2092538738
|
|
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser)
|
rs2092538545
|
|
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter)
|
rs1596563657
|
|
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)
|
rs755084885
|
|
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)
|
rs1320867301
|
|
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=)
|
rs151026121
|
|
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys)
|
rs1483748105
|
|
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)
|
rs2092683596
|
|
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)
|
rs2151801188
|
|
NM_001009944.3(PKD1):c.359+2T>G
|
rs2092683440
|
|
NM_001009944.3(PKD1):c.359+5G>A
|
rs2092683412
|
|
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
|
rs139100448
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro)
|
rs2092941758
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser)
|
rs2092493397
|
|
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs)
|
rs2092491511
|
|
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys)
|
rs2092679535
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)
|
rs1596591955
|
|
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly)
|
rs149210297
|
|
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter)
|
rs1567201083
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)
|
rs1567200117
|
|
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=)
|
rs201988915
|
|
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)
|
rs144200494
|
|
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4654del (p.Val1552fs)
|
rs2047525622
|
|
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=)
|
rs114489044
|
|
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs)
|
rs2151796475
|
|
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter)
|
rs202110519
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)
|
rs1264176877
|
|
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)
|
rs1596557266
|
|
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)
|
rs1596557065
|
|
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=)
|
rs144091742
|
|
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)
|
rs1057518783
|
|
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln)
|
rs569887918
|
|
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs)
|
rs1596556375
|
|
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu)
|
rs770462764
|
|
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter)
|
rs2092452489
|
|
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter)
|
rs2092450284
|
|
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs)
|
rs1567196314
|
|
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala)
|
rs1555459201
|
|
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter)
|
rs1304952446
|
|
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)
|
rs199476101
|
|
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys)
|
rs776113903
|
|
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)
|
rs1567195059
|
|
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val)
|
rs375440448
|
|
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)
|
rs2092439541
|
|
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs)
|
rs2151790499
|
|
NM_001009944.3(PKD1):c.601dup (p.His201fs)
|
rs2151824362
|
|
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)
|
rs1555454739
|
|
NM_001009944.3(PKD1):c.603C>G (p.His201Gln)
|
rs13334842
|
|
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter)
|
rs2151790199
|
|
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter)
|
rs755747732
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=)
|
rs886038370
|
|
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser)
|
rs1596552090
|
|
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs)
|
rs2151824295
|
|
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly)
|
rs2151788839
|
|
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro)
|
rs1596551934
|
|
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter)
|
rs2092425533
|
|
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter)
|
rs2151788037
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter)
|
rs1485307916
|
|
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)
|
rs1555454373
|
|
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)
|
rs1555454353
|
|
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter)
|
rs1567192286
|
|
NM_001009944.3(PKD1):c.659del (p.Gly220fs)
|
rs2151824233
|
|
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)
|
rs2151786683
|
|
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu)
|
rs1567218284
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs)
|
rs2151786400
|
|
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)
|
rs1567191534
|
|
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)
|
rs1567191179
|
|
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter)
|
rs755591790
|
|
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg)
|
rs2151824152
|
|
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys)
|
rs2151783812
|
|
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs)
|
rs1596548114
|
|
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter)
|
rs2092400157
|
|
NM_001009944.3(PKD1):c.7065+1G>A
|
rs2151783532
|
|
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)
|
rs752114168
|
|
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)
|
rs1555453360
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)
|
rs1367567191
|
|
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
|
rs2432403
|
|
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)
|
rs1567186165
|
|
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=)
|
rs573611925
|
|
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del)
|
rs1391744174
|
|
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu)
|
rs539143745
|
|
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His)
|
rs781066020
|
|
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg)
|
rs771788496
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly)
|
rs2092327341
|
|
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)
|
rs750913623
|
|
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter)
|
rs764840802
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.7951del (p.Val2651fs)
|
rs2151766847
|
|
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter)
|
rs1567182193
|
|
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=)
|
rs537012440
|
|
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter)
|
rs2092301272
|
|
NM_001009944.3(PKD1):c.8016+2T>C
|
rs1596536505
|
|
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile)
|
rs1269793804
|
|
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs)
|
rs2092262890
|
|
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu)
|
rs1395231369
|
|
NM_001009944.3(PKD1):c.8162-1G>A
|
rs1555451430
|
|
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter)
|
rs2092205600
|
|
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer)
|
rs2151756041
|
|
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)
|
rs879809222
|
|
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro)
|
rs145629362
|
|
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)
|
rs1596527405
|
|
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs)
|
rs2092202856
|
|
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=)
|
rs886038371
|
|
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter)
|
rs2092196354
|
|
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter)
|
rs1364976535
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)
|
rs1567176750
|
|
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)
|
rs1555450968
|
|
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs)
|
rs2151754069
|
|
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)
|
rs747638599
|
|
NM_001009944.3(PKD1):c.8791+5G>A
|
rs751652400
|
|
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys)
|
rs2151752267
|
|
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)
|
rs750780241
|
|
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg)
|
rs757527492
|
|
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del)
|
rs1358948221
|
|
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)
|
rs1567174997
|
|
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)
|
rs1596522636
|
|
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro)
|
rs746460070
|
|
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln)
|
rs750501225
|
|
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro)
|
rs2151750096
|
|
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg)
|
rs2151750082
|
|
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val)
|
rs769436046
|
|
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr)
|
rs200360336
|
|
NM_001009944.3(PKD1):c.9201+1G>A
|
rs2151749304
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu)
|
rs2092119222
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu)
|
rs1358566538
|
|
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro)
|
rs2092051851
|
|
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg)
|
rs1596515144
|
|
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)
|
rs869312944
|
|
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter)
|
rs1474701377
|
|
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe)
|
rs1422698524
|
|
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs)
|
rs2151740671
|
|
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter)
|
rs2151740638
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
NM_001009944.3(PKD1):c.9924-1G>C
|
rs2151738493
|
|
NM_001009944.3(PKD1):c.9924-9_9924-7del
|
rs892390487
|
|
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met)
|
rs541894980
|
|