NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)
|
rs9381994
|
0.52715
|
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=)
|
rs4018162
|
0.01868
|
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=)
|
rs144817614
|
0.01582
|
NM_198334.3(GANAB):c.714G>A (p.Pro238=)
|
rs139305180
|
0.01448
|
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp)
|
rs142202785
|
0.01272
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=)
|
rs114143642
|
0.01226
|
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)
|
rs147350387
|
0.01193
|
NM_138694.4(PKHD1):c.8174-18T>A
|
rs111383080
|
0.01154
|
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)
|
rs144557371
|
0.01150
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00985
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln)
|
rs142129358
|
0.00924
|
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)
|
rs145776888
|
0.00910
|
NM_198334.3(GANAB):c.380+15A>G
|
rs146098557
|
0.00910
|
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)
|
rs140869992
|
0.00811
|
NM_001009944.3(PKD1):c.1710C>T (p.His570=)
|
rs367983387
|
0.00775
|
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)
|
rs140791735
|
0.00769
|
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=)
|
rs113369380
|
0.00705
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)
|
rs149151043
|
0.00642
|
NM_001009944.3(PKD1):c.8161+8G>A
|
rs199569003
|
0.00559
|
NM_000297.4(PKD2):c.570G>T (p.Ala190=)
|
rs541702320
|
0.00554
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=)
|
rs144634185
|
0.00512
|
NM_001009944.3(PKD1):c.11411+18C>T
|
rs183078730
|
0.00483
|
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=)
|
rs202207855
|
0.00479
|
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=)
|
rs116216040
|
0.00469
|
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=)
|
rs62038811
|
0.00448
|
NM_001009944.3(PKD1):c.7065+21G>A
|
rs9930234
|
0.00418
|
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=)
|
rs139399947
|
0.00411
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)
|
rs141101590
|
0.00388
|
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)
|
rs149605181
|
0.00383
|
NM_003361.4(UMOD):c.1740+18C>T
|
rs113452476
|
0.00381
|
NM_003361.4(UMOD):c.1353C>G (p.Gly451=)
|
rs111904030
|
0.00378
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00364
|
NM_003361.4(UMOD):c.1062C>T (p.Phe354=)
|
rs78613713
|
0.00362
|
NM_001009944.3(PKD1):c.276G>A (p.Ala92=)
|
rs374518168
|
0.00354
|
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)
|
rs145955373
|
0.00349
|
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=)
|
rs57870377
|
0.00331
|
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln)
|
rs140189010
|
0.00328
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00324
|
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=)
|
rs138648495
|
0.00324
|
NM_001009944.3(PKD1):c.3296-15G>A
|
rs201704201
|
0.00316
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_198334.3(GANAB):c.38+17C>T
|
rs200471233
|
0.00275
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00272
|
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=)
|
rs143013095
|
0.00239
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp)
|
rs143953714
|
0.00215
|
NM_001009944.3(PKD1):c.7863+11C>T
|
rs368629973
|
0.00214
|
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)
|
rs369397443
|
0.00209
|
NM_001009944.3(PKD1):c.837G>A (p.Gly279=)
|
rs372124319
|
0.00199
|
NM_001009944.3(PKD1):c.10406-4C>T
|
rs151095649
|
0.00198
|
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)
|
rs148727945
|
0.00165
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_001009944.3(PKD1):c.11538-11C>T
|
rs377692278
|
0.00139
|
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=)
|
rs146745256
|
0.00137
|
NM_001009944.3(PKD1):c.11017-3C>T
|
rs185355445
|
0.00135
|
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
|
rs199569478
|
0.00125
|
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
NM_001009944.3(PKD1):c.588C>T (p.Ser196=)
|
rs776302294
|
0.00116
|
NM_001009944.3(PKD1):c.8161+12C>T
|
rs375283810
|
0.00113
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00109
|
NM_178170.3(NEK8):c.1489G>C (p.Ala497Pro)
|
rs146326420
|
0.00106
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=)
|
rs141138826
|
0.00094
|
NM_001009944.3(PKD1):c.2109C>T (p.His703=)
|
rs527655141
|
0.00093
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
NM_138694.4(PKHD1):c.3097+15G>T
|
rs376878007
|
0.00093
|
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=)
|
rs144663361
|
0.00092
|
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)
|
rs148496347
|
0.00091
|
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=)
|
rs149623670
|
0.00090
|
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met)
|
rs200654041
|
0.00087
|
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser)
|
rs200279710
|
0.00076
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)
|
rs201509188
|
0.00075
|
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=)
|
rs570750726
|
0.00073
|
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=)
|
rs12102740
|
0.00073
|
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=)
|
rs149924232
|
0.00068
|
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=)
|
rs373854628
|
0.00068
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_198334.3(GANAB):c.1386+18C>T
|
rs79188721
|
0.00066
|
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=)
|
rs117955701
|
0.00061
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)
|
rs140162759
|
0.00058
|
NM_001009944.3(PKD1):c.9713-4C>T
|
rs200434097
|
0.00058
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_001009944.3(PKD1):c.12139-5C>T
|
rs146430229
|
0.00055
|
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=)
|
rs547262346
|
0.00054
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_138694.4(PKHD1):c.11311-19C>G
|
rs181140024
|
0.00052
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_178170.3(NEK8):c.419G>T (p.Arg140Leu)
|
rs141599330
|
0.00048
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00045
|
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=)
|
rs2575316
|
0.00045
|
NM_000297.4(PKD2):c.1617G>C (p.Leu539=)
|
rs145297759
|
0.00044
|
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln)
|
rs146494724
|
0.00044
|
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=)
|
rs148159605
|
0.00044
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
NM_173543.3(DZIP1L):c.256G>T (p.Val86Leu)
|
rs142726001
|
0.00044
|
NM_138694.4(PKHD1):c.11310+13A>G
|
rs191991777
|
0.00043
|
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=)
|
rs768813212
|
0.00041
|
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)
|
rs748887038
|
0.00040
|
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=)
|
rs181130940
|
0.00040
|
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val)
|
rs780145654
|
0.00039
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)
|
rs140662778
|
0.00037
|
NM_003361.4(UMOD):c.1500A>G (p.Ala500=)
|
rs200895986
|
0.00037
|
NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln)
|
rs753359659
|
0.00036
|
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met)
|
rs191685707
|
0.00035
|
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)
|
rs201991587
|
0.00035
|
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=)
|
rs373880615
|
0.00034
|
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=)
|
rs375408086
|
0.00033
|
NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro)
|
rs144365187
|
0.00033
|
NM_000297.4(PKD2):c.198C>A (p.Asp66Glu)
|
rs988396505
|
0.00032
|
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_003361.4(UMOD):c.184A>C (p.Thr62Pro)
|
rs143248111
|
0.00032
|
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)
|
rs142205860
|
0.00032
|
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=)
|
rs141132307
|
0.00031
|
NM_138694.4(PKHD1):c.1643A>G (p.Lys548Arg)
|
rs145163993
|
0.00030
|
NM_001009944.3(PKD1):c.10221-14C>T
|
rs201207354
|
0.00029
|
NM_138694.4(PKHD1):c.8174-19A>T
|
rs758233215
|
0.00028
|
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=)
|
rs149331148
|
0.00027
|
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)
|
rs141349745
|
0.00025
|
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met)
|
rs147141131
|
0.00024
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=)
|
rs376075101
|
0.00023
|
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=)
|
rs145648167
|
0.00023
|
NM_001009944.3(PKD1):c.10822-8C>G
|
rs9924796
|
0.00022
|
NM_001009944.3(PKD1):c.8162-12G>A
|
rs375993328
|
0.00022
|
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)
|
rs201812542
|
0.00022
|
NM_138694.4(PKHD1):c.3098-13G>A
|
rs371242359
|
0.00022
|
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu)
|
rs147933501
|
0.00022
|
NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu)
|
rs199933041
|
0.00022
|
NM_001009944.3(PKD1):c.288-20G>A
|
rs572319823
|
0.00021
|
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln)
|
rs371665285
|
0.00021
|
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)
|
rs950293866
|
0.00020
|
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr)
|
rs201599671
|
0.00020
|
NM_001009944.3(PKD1):c.6915+19C>T
|
rs371376951
|
0.00020
|
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=)
|
rs556575921
|
0.00020
|
NM_138694.4(PKHD1):c.2821+10G>A
|
rs367619854
|
0.00020
|
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu)
|
rs139838478
|
0.00020
|
NM_138694.4(PKHD1):c.4540G>C (p.Asp1514His)
|
rs147098776
|
0.00020
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
0.00020
|
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=)
|
rs376838860
|
0.00019
|
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)
|
rs372882189
|
0.00019
|
NM_138694.4(PKHD1):c.1603-19T>A
|
rs201996881
|
0.00019
|
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp)
|
rs143867809
|
0.00019
|
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val)
|
rs78361537
|
0.00019
|
NM_173543.3(DZIP1L):c.1017A>G (p.Arg339=)
|
rs147201722
|
0.00019
|
NM_001009944.3(PKD1):c.11412-6C>T
|
rs367775096
|
0.00018
|
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=)
|
rs759092782
|
0.00018
|
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=)
|
rs377662680
|
0.00018
|
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys)
|
rs200986136
|
0.00018
|
NM_138694.4(PKHD1):c.6490+8A>G
|
rs201984652
|
0.00018
|
NM_198334.3(GANAB):c.2343C>T (p.Ser781=)
|
rs779306237
|
0.00018
|
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp)
|
rs746771378
|
0.00017
|
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His)
|
rs375198888
|
0.00017
|
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys)
|
rs137972270
|
0.00017
|
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=)
|
rs150202544
|
0.00017
|
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln)
|
rs139063552
|
0.00017
|
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln)
|
rs759950842
|
0.00016
|
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=)
|
rs767721989
|
0.00016
|
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=)
|
rs146103326
|
0.00016
|
NM_001009944.3(PKD1):c.543C>T (p.Val181=)
|
rs1365608859
|
0.00016
|
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn)
|
rs140419956
|
0.00016
|
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr)
|
rs142536551
|
0.00016
|
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)
|
rs200497761
|
0.00016
|
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)
|
rs146745096
|
0.00016
|
NM_138694.4(PKHD1):c.8951-19G>A
|
rs200025399
|
0.00016
|
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
|
rs145141656
|
0.00016
|
NM_198334.3(GANAB):c.2253G>A (p.Ala751=)
|
rs200456484
|
0.00016
|
NM_001009944.3(PKD1):c.10161C>T (p.His3387=)
|
rs143350197
|
0.00015
|
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=)
|
rs530703053
|
0.00015
|
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu)
|
rs200646755
|
0.00015
|
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=)
|
rs372759889
|
0.00015
|
NM_001009944.3(PKD1):c.8176C>T (p.Leu2726=)
|
rs573754849
|
0.00015
|
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)
|
rs145219220
|
0.00015
|
NM_138694.4(PKHD1):c.588G>A (p.Arg196=)
|
rs201773743
|
0.00015
|
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)
|
rs199897497
|
0.00015
|
NM_000297.4(PKD2):c.2583C>T (p.Asp861=)
|
rs369520452
|
0.00014
|
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser)
|
rs146527465
|
0.00014
|
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met)
|
rs760315179
|
0.00014
|
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=)
|
rs764827551
|
0.00014
|
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=)
|
rs199988586
|
0.00014
|
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln)
|
rs387907549
|
0.00014
|
NM_003361.4(UMOD):c.504C>T (p.Leu168=)
|
rs369454700
|
0.00014
|
NM_003361.4(UMOD):c.973+7C>T
|
rs557659943
|
0.00014
|
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser)
|
rs148108992
|
0.00014
|
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp)
|
rs756825030
|
0.00014
|
NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu)
|
rs146989750
|
0.00014
|
NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser)
|
rs199823733
|
0.00014
|
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=)
|
rs183090717
|
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_003361.4(UMOD):c.1648G>A (p.Val550Ile)
|
rs188709583
|
0.00013
|
NM_003361.4(UMOD):c.599G>A (p.Arg200His)
|
rs940287917
|
0.00013
|
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys)
|
rs148300854
|
0.00013
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser)
|
rs199947459
|
0.00012
|
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile)
|
rs141972092
|
0.00012
|
NM_178170.3(NEK8):c.880C>T (p.Arg294Cys)
|
rs146113045
|
0.00012
|
NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)
|
rs201801499
|
0.00012
|
NM_000297.4(PKD2):c.1092C>T (p.Thr364=)
|
rs149257723
|
0.00011
|
NM_000297.4(PKD2):c.2523-7C>T
|
rs199528409
|
0.00011
|
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=)
|
rs561467860
|
0.00011
|
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met)
|
rs767665300
|
0.00011
|
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=)
|
rs372696163
|
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_003361.4(UMOD):c.1383G>A (p.Ala461=)
|
rs147222401
|
0.00011
|
NM_138694.4(PKHD1):c.11175-10T>G
|
rs373424543
|
0.00011
|
NM_138694.4(PKHD1):c.11870G>A (p.Arg3957His)
|
rs372357820
|
0.00011
|
NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp)
|
rs199858063
|
0.00011
|
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)
|
rs374233100
|
0.00011
|
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)
|
rs138242579
|
0.00011
|
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu)
|
rs368467585
|
0.00011
|
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)
|
rs751084512
|
0.00011
|
NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp)
|
rs201254195
|
0.00011
|
NM_178170.3(NEK8):c.1148G>A (p.Arg383His)
|
rs138066977
|
0.00011
|
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys)
|
rs150838063
|
0.00010
|
NM_000297.4(PKD2):c.356G>A (p.Arg119His)
|
rs748654180
|
0.00010
|
NM_000297.4(PKD2):c.733A>C (p.Asn245His)
|
rs200543024
|
0.00010
|
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp)
|
rs769208706
|
0.00010
|
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=)
|
rs990065629
|
0.00010
|
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=)
|
rs772143717
|
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_138694.4(PKHD1):c.1018G>A (p.Gly340Arg)
|
rs368351830
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys)
|
rs200599637
|
0.00010
|
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp)
|
rs372340268
|
0.00010
|
NM_000297.4(PKD2):c.2391A>C (p.Pro797=)
|
rs556777891
|
0.00009
|
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=)
|
rs201417193
|
0.00009
|
NM_001009944.3(PKD1):c.12051G>C (p.Lys4017Asn)
|
rs151044657
|
0.00009
|
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr)
|
rs201035636
|
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.5449G>A (p.Val1817Met)
|
rs149713462
|
0.00009
|
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp)
|
rs751031560
|
0.00009
|
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys)
|
rs374629549
|
0.00009
|
NM_003361.4(UMOD):c.430G>A (p.Asp144Asn)
|
rs769398465
|
0.00009
|
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)
|
rs562503637
|
0.00009
|
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val)
|
rs139742511
|
0.00009
|
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu)
|
rs780849635
|
0.00009
|
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=)
|
rs750130747
|
0.00009
|
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe)
|
rs746561147
|
0.00009
|
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg)
|
rs369932370
|
0.00009
|
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln)
|
rs370557603
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His)
|
rs772219802
|
0.00009
|
NM_138694.4(PKHD1):c.7285G>A (p.Val2429Ile)
|
rs148284341
|
0.00009
|
NM_000297.4(PKD2):c.1717-7C>T
|
rs201267638
|
0.00008
|
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala)
|
rs766549097
|
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_003361.4(UMOD):c.1288G>A (p.Asp430Asn)
|
rs200394184
|
0.00008
|
NM_003361.4(UMOD):c.990G>A (p.Glu330=)
|
rs200665026
|
0.00008
|
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn)
|
rs760056303
|
0.00008
|
NM_138694.4(PKHD1):c.1487G>A (p.Arg496Gln)
|
rs181391485
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_138694.4(PKHD1):c.708-5C>T
|
rs371844893
|
0.00008
|
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His)
|
rs373643848
|
0.00008
|
NM_198334.3(GANAB):c.262G>A (p.Val88Met)
|
rs145841521
|
0.00008
|
NM_198334.3(GANAB):c.548C>T (p.Ala183Val)
|
rs921091711
|
0.00008
|
NM_198334.3(GANAB):c.926G>A (p.Arg309His)
|
rs144118755
|
0.00008
|
NM_000297.4(PKD2):c.2499C>T (p.Gly833=)
|
rs180709531
|
0.00007
|
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)
|
rs374609310
|
0.00007
|
NM_001009944.3(PKD1):c.11713-3C>T
|
rs754015180
|
0.00007
|
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=)
|
rs1344519371
|
0.00007
|
NM_001009944.3(PKD1):c.413G>A (p.Arg138Gln)
|
rs2515725
|
0.00007
|
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr)
|
rs779342040
|
0.00007
|
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys)
|
rs554493059
|
0.00007
|
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr)
|
rs555901411
|
0.00007
|
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val)
|
rs142608481
|
0.00007
|
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=)
|
rs751244001
|
0.00007
|
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile)
|
rs565045703
|
0.00007
|
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=)
|
rs369801937
|
0.00007
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
NM_000297.4(PKD2):c.1654G>C (p.Ala552Pro)
|
rs369908107
|
0.00006
|
NM_001009944.3(PKD1):c.5180C>T (p.Pro1727Leu)
|
rs373060372
|
0.00006
|
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val)
|
rs769636582
|
0.00006
|
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu)
|
rs151308544
|
0.00006
|
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val)
|
rs1353004865
|
0.00006
|
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys)
|
rs777608163
|
0.00006
|
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met)
|
rs544100161
|
0.00006
|
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys)
|
rs543328728
|
0.00006
|
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr)
|
rs776589273
|
0.00006
|
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg)
|
rs761871204
|
0.00006
|
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro)
|
rs139442289
|
0.00006
|
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr)
|
rs373896034
|
0.00006
|
NM_138694.4(PKHD1):c.11506+14G>C
|
rs371687822
|
0.00006
|
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)
|
rs560133266
|
0.00006
|
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=)
|
rs1443176251
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His)
|
rs151160618
|
0.00006
|
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly)
|
rs528966196
|
0.00006
|
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys)
|
rs751529187
|
0.00006
|
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys)
|
rs374132086
|
0.00006
|
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp)
|
rs371830478
|
0.00006
|
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val)
|
rs146962673
|
0.00006
|
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)
|
rs374869252
|
0.00006
|
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
|
rs200432861
|
0.00006
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
NM_138694.4(PKHD1):c.9665A>G (p.His3222Arg)
|
rs777989032
|
0.00006
|
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr)
|
rs374175041
|
0.00006
|
NM_178170.3(NEK8):c.977G>A (p.Arg326Gln)
|
rs200972000
|
0.00006
|
NM_198334.3(GANAB):c.1594-9C>T
|
rs200289173
|
0.00006
|
NM_198334.3(GANAB):c.2353C>A (p.His785Asn)
|
rs753910059
|
0.00006
|
NM_198334.3(GANAB):c.253G>A (p.Val85Met)
|
rs1033126561
|
0.00006
|
NM_198334.3(GANAB):c.381-10T>C
|
rs371678104
|
0.00006
|
NM_000297.4(PKD2):c.1927G>A (p.Asp643Asn)
|
rs748354306
|
0.00005
|
NM_000297.4(PKD2):c.2491T>C (p.Ser831Pro)
|
rs149728995
|
0.00005
|
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=)
|
rs748123570
|
0.00005
|
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg)
|
rs1050939771
|
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.6026C>T (p.Ser2009Leu)
|
rs145762096
|
0.00005
|
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys)
|
rs781114712
|
0.00005
|
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys)
|
rs773857360
|
0.00005
|
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser)
|
rs886265852
|
0.00005
|
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys)
|
rs531854741
|
0.00005
|
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=)
|
rs770635587
|
0.00005
|
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg)
|
rs201824369
|
0.00005
|
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp)
|
rs567357782
|
0.00005
|
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=)
|
rs759939735
|
0.00005
|
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp)
|
rs148356158
|
0.00005
|
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln)
|
rs557773345
|
0.00005
|
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser)
|
rs149293970
|
0.00005
|
NM_138694.4(PKHD1):c.5687C>T (p.Thr1896Met)
|
rs140996978
|
0.00005
|
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile)
|
rs142552070
|
0.00005
|
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met)
|
rs776068047
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His)
|
rs372102850
|
0.00005
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
NM_138694.4(PKHD1):c.977-20G>A
|
rs753880972
|
0.00005
|
NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp)
|
rs773883764
|
0.00005
|
NM_178170.3(NEK8):c.1915A>C (p.Lys639Gln)
|
rs148904248
|
0.00005
|
NM_198334.3(GANAB):c.2334C>A (p.Asp778Glu)
|
rs937056702
|
0.00005
|
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val)
|
rs201504575
|
0.00004
|
NM_000297.4(PKD2):c.2186T>A (p.Leu729Gln)
|
rs569788968
|
0.00004
|
NM_000297.4(PKD2):c.2338G>A (p.Asp780Asn)
|
rs773557612
|
0.00004
|
NM_000297.4(PKD2):c.2754C>T (p.Ser918=)
|
rs748855749
|
0.00004
|
NM_000297.4(PKD2):c.514G>T (p.Asp172Tyr)
|
rs886059698
|
0.00004
|
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile)
|
rs754956606
|
0.00004
|
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser)
|
rs781492044
|
0.00004
|
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys)
|
rs553106581
|
0.00004
|
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala)
|
rs1341672915
|
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.4709C>T (p.Thr1570Met)
|
rs368161263
|
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.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.7767C>T (p.His2589=)
|
rs555499745
|
0.00004
|
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val)
|
rs761726794
|
0.00004
|
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg)
|
rs202086892
|
0.00004
|
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=)
|
rs535771951
|
0.00004
|
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His)
|
rs1063405
|
0.00004
|
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr)
|
rs533152302
|
0.00004
|
NM_003361.4(UMOD):c.1362C>A (p.Gly454=)
|
rs770875763
|
0.00004
|
NM_003361.4(UMOD):c.685A>T (p.Met229Leu)
|
rs756226236
|
0.00004
|
NM_003361.4(UMOD):c.875C>A (p.Ser292Tyr)
|
rs147199402
|
0.00004
|
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val)
|
rs748863662
|
0.00004
|
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His)
|
rs143915416
|
0.00004
|
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu)
|
rs545701882
|
0.00004
|
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys)
|
rs201534300
|
0.00004
|
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=)
|
rs754613918
|
0.00004
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
NM_138694.4(PKHD1):c.12107G>A (p.Arg4036Gln)
|
rs201242338
|
0.00004
|
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val)
|
rs781286941
|
0.00004
|
NM_138694.4(PKHD1):c.1420C>A (p.His474Asn)
|
rs760766190
|
0.00004
|
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)
|
rs557361225
|
0.00004
|
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln)
|
rs757182803
|
0.00004
|
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys)
|
rs199846197
|
0.00004
|
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln)
|
rs577541526
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met)
|
rs564240823
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_138694.4(PKHD1):c.2538C>T (p.His846=)
|
rs775356491
|
0.00004
|
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His)
|
rs886042298
|
0.00004
|
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe)
|
rs398124482
|
0.00004
|
NM_138694.4(PKHD1):c.306G>A (p.Glu102=)
|
rs759126073
|
0.00004
|
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His)
|
rs201123815
|
0.00004
|
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile)
|
rs147035447
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr)
|
rs536456650
|
0.00004
|
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys)
|
rs368974211
|
0.00004
|
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg)
|
rs146649894
|
0.00004
|
NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met)
|
rs201858937
|
0.00004
|
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)
|
rs1412045164
|
0.00004
|
NM_138694.4(PKHD1):c.5958C>T (p.His1986=)
|
rs745388926
|
0.00004
|
NM_138694.4(PKHD1):c.630T>G (p.Leu210=)
|
rs950789431
|
0.00004
|
NM_138694.4(PKHD1):c.6479A>G (p.Asn2160Ser)
|
rs577306911
|
0.00004
|
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr)
|
rs375436864
|
0.00004
|
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=)
|
rs747038764
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly)
|
rs746000400
|
0.00004
|
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=)
|
rs749740610
|
0.00004
|
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg)
|
rs146550270
|
0.00004
|
NM_178170.3(NEK8):c.1771G>A (p.Gly591Arg)
|
rs754159776
|
0.00004
|
NM_178170.3(NEK8):c.2000C>T (p.Thr667Met)
|
rs147625932
|
0.00004
|
NM_178170.3(NEK8):c.22C>G (p.Arg8Gly)
|
rs199621354
|
0.00004
|
NM_178170.3(NEK8):c.801C>T (p.Thr267=)
|
rs754756615
|
0.00004
|
NM_198334.3(GANAB):c.2093G>A (p.Arg698Gln)
|
rs765000469
|
0.00004
|
NM_198334.3(GANAB):c.2512-13A>G
|
rs376460143
|
0.00004
|
NM_000297.4(PKD2):c.2118+19C>T
|
rs777790980
|
0.00003
|
NM_001009944.3(PKD1):c.11157-9C>G
|
rs1191413154
|
0.00003
|
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile)
|
rs200120839
|
0.00003
|
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)
|
rs760873748
|
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.2396G>A (p.Arg799Gln)
|
rs766489466
|
0.00003
|
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp)
|
rs773426104
|
0.00003
|
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)
|
rs773329559
|
0.00003
|
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys)
|
rs770755888
|
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.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.5777C>T (p.Ala1926Val)
|
rs754890213
|
0.00003
|
NM_001009944.3(PKD1):c.6001C>T (p.Arg2001Trp)
|
rs773069152
|
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.6440G>A (p.Arg2147Gln)
|
rs771035065
|
0.00003
|
NM_001009944.3(PKD1):c.6605C>T (p.Ala2202Val)
|
rs764264106
|
0.00003
|
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser)
|
rs1211697062
|
0.00003
|
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val)
|
rs780284563
|
0.00003
|
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile)
|
rs201780393
|
0.00003
|
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met)
|
rs1459100196
|
0.00003
|
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr)
|
rs1422578175
|
0.00003
|
NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys)
|
rs758221597
|
0.00003
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn)
|
rs778583323
|
0.00003
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)
|
rs137852948
|
0.00003
|
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
|
rs754626014
|
0.00003
|
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu)
|
rs775014599
|
0.00003
|
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=)
|
rs1165946143
|
0.00003
|
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg)
|
rs755769277
|
0.00003
|
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu)
|
rs758871283
|
0.00003
|
NM_138694.4(PKHD1):c.122T>G (p.Ile41Ser)
|
rs886043527
|
0.00003
|
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=)
|
rs1252381398
|
0.00003
|
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala)
|
rs144526315
|
0.00003
|
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys)
|
rs727504094
|
0.00003
|
NM_138694.4(PKHD1):c.131-16C>T
|
rs1174461021
|
0.00003
|
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp)
|
rs139770251
|
0.00003
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly)
|
rs145855006
|
0.00003
|
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp)
|
rs749170990
|
0.00003
|
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met)
|
rs778864835
|
0.00003
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=)
|
rs778487042
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=)
|
rs758960742
|
0.00003
|
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg)
|
rs780740862
|
0.00003
|
NM_138694.4(PKHD1):c.4852A>G (p.Ile1618Val)
|
rs143322944
|
0.00003
|
NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys)
|
rs762702777
|
0.00003
|
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly)
|
rs377674026
|
0.00003
|
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys)
|
rs151108325
|
0.00003
|
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr)
|
rs747072396
|
0.00003
|
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)
|
rs1366295189
|
0.00003
|
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn)
|
rs142487082
|
0.00003
|
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val)
|
rs565528098
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_138694.4(PKHD1):c.874A>G (p.Ile292Val)
|
rs367590965
|
0.00003
|
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=)
|
rs781630151
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_178170.3(NEK8):c.9G>A (p.Lys3=)
|
rs759474870
|
0.00003
|
NM_000297.4(PKD2):c.1250G>A (p.Arg417Gln)
|
rs142261953
|
0.00002
|
NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys)
|
rs773998492
|
0.00002
|
NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp)
|
rs749112798
|
0.00002
|
NM_000297.4(PKD2):c.2314G>A (p.Glu772Lys)
|
rs774525905
|
0.00002
|
NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn)
|
rs370489860
|
0.00002
|
NM_000297.4(PKD2):c.587G>C (p.Gly196Ala)
|
rs1377684533
|
0.00002
|
NM_001009944.3(PKD1):c.11198C>T (p.Pro3733Leu)
|
rs2091644809
|
0.00002
|
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys)
|
rs765408067
|
0.00002
|
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val)
|
rs775988021
|
0.00002
|
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys)
|
rs1085307552
|
0.00002
|
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=)
|
rs754575596
|
0.00002
|
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys)
|
rs755462601
|
0.00002
|
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu)
|
rs781681199
|
0.00002
|
NM_001009944.3(PKD1):c.7222C>T (p.Arg2408Cys)
|
rs538769374
|
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.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.9124G>A (p.Val3042Ile)
|
rs966307189
|
0.00002
|
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
|
rs776866974
|
0.00002
|
NM_001009944.3(PKD1):c.9713-17C>G
|
rs766238514
|
0.00002
|
NM_003361.4(UMOD):c.1459G>A (p.Val487Met)
|
rs375158769
|
0.00002
|
NM_003361.4(UMOD):c.1640G>A (p.Arg547Gln)
|
rs780358900
|
0.00002
|
NM_003361.4(UMOD):c.1680C>G (p.Asp560Glu)
|
rs200473249
|
0.00002
|
NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile)
|
rs751927256
|
0.00002
|
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp)
|
rs760253448
|
0.00002
|
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=)
|
rs774349380
|
0.00002
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=)
|
rs1162292670
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.10514G>A (p.Ser3505Asn)
|
rs200244173
|
0.00002
|
NM_138694.4(PKHD1):c.108G>A (p.Thr36=)
|
rs779123303
|
0.00002
|
NM_138694.4(PKHD1):c.11539G>T (p.Ala3847Ser)
|
rs769135174
|
0.00002
|
NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile)
|
rs773044015
|
0.00002
|
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=)
|
rs1268794606
|
0.00002
|
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=)
|
rs886043022
|
0.00002
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=)
|
rs140920157
|
0.00002
|
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp)
|
rs769143280
|
0.00002
|
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val)
|
rs979700489
|
0.00002
|
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val)
|
rs774570785
|
0.00002
|
NM_138694.4(PKHD1):c.3604G>A (p.Glu1202Lys)
|
rs554956088
|
0.00002
|
NM_138694.4(PKHD1):c.3629-16C>T
|
rs776260404
|
0.00002
|
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro)
|
rs199643308
|
0.00002
|
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val)
|
rs747436583
|
0.00002
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
0.00002
|
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys)
|
rs767379405
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_138694.4(PKHD1):c.6266C>T (p.Pro2089Leu)
|
rs376477480
|
0.00002
|
NM_138694.4(PKHD1):c.668-3C>T
|
rs775002568
|
0.00002
|
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val)
|
rs755286726
|
0.00002
|
NM_138694.4(PKHD1):c.6996+5G>A
|
rs1232218253
|
0.00002
|
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn)
|
rs749431123
|
0.00002
|
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=)
|
rs753436694
|
0.00002
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr)
|
rs368696503
|
0.00002
|
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val)
|
rs762313489
|
0.00002
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp)
|
rs757650951
|
0.00002
|
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile)
|
rs749794881
|
0.00002
|
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=)
|
rs200466480
|
0.00002
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_138694.4(PKHD1):c.9282C>T (p.Asn3094=)
|
rs113402912
|
0.00002
|
NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys)
|
rs763499782
|
0.00002
|
NM_178170.3(NEK8):c.1793G>A (p.Arg598His)
|
rs771392691
|
0.00002
|
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter)
|
rs752792782
|
0.00002
|
NM_178170.3(NEK8):c.889+1G>T
|
rs780247729
|
0.00002
|
NM_198334.3(GANAB):c.323C>T (p.Pro108Leu)
|
rs200232092
|
0.00002
|
NM_198334.3(GANAB):c.560+469C>T
|
rs777394229
|
0.00002
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
NM_000297.4(PKD2):c.1094+1G>A
|
rs58606740
|
0.00001
|
NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr)
|
rs144431856
|
0.00001
|
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu)
|
rs1408612463
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.145C>T (p.Gln49Ter)
|
rs1057518906
|
0.00001
|
NM_000297.4(PKD2):c.170A>G (p.Gln57Arg)
|
rs1175705856
|
0.00001
|
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg)
|
rs181037821
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.2162C>G (p.Thr721Ser)
|
rs751589219
|
0.00001
|
NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser)
|
rs747895445
|
0.00001
|
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)
|
rs121918040
|
0.00001
|
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter)
|
rs1276594505
|
0.00001
|
NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn)
|
rs761597786
|
0.00001
|
NM_000297.4(PKD2):c.2460C>T (p.Ser820=)
|
rs572822238
|
0.00001
|
NM_000297.4(PKD2):c.251G>A (p.Arg84Gln)
|
rs1326556150
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.2585C>T (p.Ala862Val)
|
rs767919784
|
0.00001
|
NM_000297.4(PKD2):c.2743C>T (p.Arg915Cys)
|
rs1215199829
|
0.00001
|
NM_000297.4(PKD2):c.2762C>T (p.Ala921Val)
|
rs545898956
|
0.00001
|
NM_000297.4(PKD2):c.2837C>T (p.Pro946Leu)
|
rs370039125
|
0.00001
|
NM_000297.4(PKD2):c.485C>T (p.Pro162Leu)
|
rs1034653764
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_000297.4(PKD2):c.710-10T>G
|
rs1727324181
|
0.00001
|
NM_000297.4(PKD2):c.710-11C>A
|
rs764334983
|
0.00001
|
NM_000297.4(PKD2):c.724A>G (p.Met242Val)
|
rs748163182
|
0.00001
|
NM_000297.4(PKD2):c.783C>T (p.Pro261=)
|
rs766343471
|
0.00001
|
NM_000297.4(PKD2):c.914A>G (p.Asn305Ser)
|
rs1727416682
|
0.00001
|
NM_000297.4(PKD2):c.95G>A (p.Gly32Asp)
|
rs1393526656
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)
|
rs145877597
|
0.00001
|
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys)
|
rs1287231217
|
0.00001
|
NM_001009944.3(PKD1):c.10050+10G>C
|
rs746704728
|
0.00001
|
NM_001009944.3(PKD1):c.10481C>T (p.Thr3494Met)
|
rs752503970
|
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.1207C>T (p.His403Tyr)
|
rs999510631
|
0.00001
|
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser)
|
rs1363663761
|
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.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.3043C>T (p.Arg1015Trp)
|
rs751946869
|
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.4664C>T (p.Ala1555Val)
|
rs758865304
|
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.5203A>T (p.Ser1735Cys)
|
rs1064796417
|
0.00001
|
NM_001009944.3(PKD1):c.5284A>G (p.Thr1762Ala)
|
rs369625462
|
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.6356A>G (p.Asp2119Gly)
|
rs755560531
|
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.7064C>T (p.Thr2355Met)
|
rs758620810
|
0.00001
|
NM_001009944.3(PKD1):c.709C>G (p.Pro237Ala)
|
rs1350910449
|
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.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.8688C>T (p.Ser2896=)
|
rs548736542
|
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.9562A>G (p.Asn3188Asp)
|
rs1384099162
|
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.9885C>T (p.Asn3295=)
|
rs764028566
|
0.00001
|
NM_003361.4(UMOD):c.1123C>T (p.Arg375Trp)
|
rs373609971
|
0.00001
|
NM_003361.4(UMOD):c.1390C>T (p.Gln464Ter)
|
rs373412017
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=)
|
rs375770253
|
0.00001
|
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=)
|
rs562160590
|
0.00001
|
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro)
|
rs769773637
|
0.00001
|
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser)
|
rs886061612
|
0.00001
|
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala)
|
rs201692162
|
0.00001
|
NM_138694.4(PKHD1):c.11101G>A (p.Val3701Ile)
|
rs979287276
|
0.00001
|
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=)
|
rs758082610
|
0.00001
|
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys)
|
rs1206336265
|
0.00001
|
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly)
|
rs886061610
|
0.00001
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln)
|
rs775097870
|
0.00001
|
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)
|
rs747170980
|
0.00001
|
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
|
rs761704401
|
0.00001
|
NM_138694.4(PKHD1):c.1187G>A (p.Ser396Asn)
|
rs772507975
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys)
|
rs531466080
|
0.00001
|
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg)
|
rs778545068
|
0.00001
|
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=)
|
rs757125119
|
0.00001
|
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val)
|
rs776845008
|
0.00001
|
NM_138694.4(PKHD1):c.1425C>T (p.Asn475=)
|
rs200745148
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter)
|
rs759322460
|
0.00001
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
NM_138694.4(PKHD1):c.1694-2A>G
|
rs1807619777
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138694.4(PKHD1):c.1917A>T (p.Val639=)
|
rs1192699542
|
0.00001
|
NM_138694.4(PKHD1):c.193G>A (p.Val65Met)
|
rs749853418
|
0.00001
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)
|
rs376987651
|
0.00001
|
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=)
|
rs769144028
|
0.00001
|
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met)
|
rs377415956
|
0.00001
|
NM_138694.4(PKHD1):c.210C>T (p.Pro70=)
|
rs372103359
|
0.00001
|
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)
|
rs727504090
|
0.00001
|
NM_138694.4(PKHD1):c.2275G>A (p.Ala759Thr)
|
rs550730673
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2280-4A>T
|
rs549804372
|
0.00001
|
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)
|
rs767737392
|
0.00001
|
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)
|
rs371928571
|
0.00001
|
NM_138694.4(PKHD1):c.2377C>T (p.Arg793Cys)
|
rs779653146
|
0.00001
|
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro)
|
rs750588859
|
0.00001
|
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val)
|
rs546401927
|
0.00001
|
NM_138694.4(PKHD1):c.2593-10A>G
|
rs1050450962
|
0.00001
|
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
|
rs752646435
|
0.00001
|
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)
|
rs764696718
|
0.00001
|
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met)
|
rs530600526
|
0.00001
|
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)
|
rs757854282
|
0.00001
|
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln)
|
rs899785229
|
0.00001
|
NM_138694.4(PKHD1):c.3119G>A (p.Arg1040Gln)
|
rs751832041
|
0.00001
|
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val)
|
rs727504088
|
0.00001
|
NM_138694.4(PKHD1):c.3229-7T>G
|
rs780401384
|
0.00001
|
NM_138694.4(PKHD1):c.3259G>C (p.Val1087Leu)
|
rs372422063
|
0.00001
|
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr)
|
rs772369540
|
0.00001
|
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr)
|
rs78624439
|
0.00001
|
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)
|
rs1554200780
|
0.00001
|
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)
|
rs797044713
|
0.00001
|
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser)
|
rs747233443
|
0.00001
|
NM_138694.4(PKHD1):c.3547A>G (p.Ile1183Val)
|
rs746874144
|
0.00001
|
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)
|
rs727504096
|
0.00001
|
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln)
|
rs764940559
|
0.00001
|
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=)
|
rs150985194
|
0.00001
|
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val)
|
rs112182862
|
0.00001
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg)
|
rs759930967
|
0.00001
|
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu)
|
rs771702541
|
0.00001
|
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)
|
rs141093030
|
0.00001
|
NM_138694.4(PKHD1):c.4403T>C (p.Leu1468Pro)
|
rs140331370
|
0.00001
|
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)
|
rs1350620976
|
0.00001
|
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met)
|
rs1370869109
|
0.00001
|
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr)
|
rs375437755
|
0.00001
|
NM_138694.4(PKHD1):c.4876A>G (p.Ile1626Val)
|
rs770183868
|
0.00001
|
NM_138694.4(PKHD1):c.4918G>A (p.Val1640Ile)
|
rs1396314967
|
0.00001
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=)
|
rs747933439
|
0.00001
|
NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser)
|
rs746705122
|
0.00001
|
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=)
|
rs556583531
|
0.00001
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)
|
rs770522674
|
0.00001
|
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=)
|
rs1241103975
|
0.00001
|
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=)
|
rs1355951747
|
0.00001
|
NM_138694.4(PKHD1):c.56G>A (p.Arg19His)
|
rs1375765328
|
0.00001
|
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)
|
rs1313206550
|
0.00001
|
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=)
|
rs1167596697
|
0.00001
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
0.00001
|
NM_138694.4(PKHD1):c.6130C>T (p.Pro2044Ser)
|
rs777570978
|
0.00001
|
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala)
|
rs1283289447
|
0.00001
|
NM_138694.4(PKHD1):c.6187G>A (p.Ala2063Thr)
|
rs772835579
|
0.00001
|
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr)
|
rs750822014
|
0.00001
|
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)
|
rs368263958
|
0.00001
|
NM_138694.4(PKHD1):c.657C>T (p.Gly219=)
|
rs189345248
|
0.00001
|
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr)
|
rs1376315113
|
0.00001
|
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr)
|
rs1459248210
|
0.00001
|
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=)
|
rs1315333212
|
0.00001
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
0.00001
|
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val)
|
rs748865599
|
0.00001
|
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)
|
rs398124492
|
0.00001
|
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=)
|
rs771622189
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met)
|
rs201173272
|
0.00001
|
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly)
|
rs747117144
|
0.00001
|
NM_138694.4(PKHD1):c.7414A>G (p.Thr2472Ala)
|
rs137972951
|
0.00001
|
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe)
|
rs202008567
|
0.00001
|
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=)
|
rs746499996
|
0.00001
|
NM_138694.4(PKHD1):c.7619T>C (p.Leu2540Pro)
|
rs761681284
|
0.00001
|
NM_138694.4(PKHD1):c.7658A>G (p.Asn2553Ser)
|
rs576001667
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu)
|
rs776654447
|
0.00001
|
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln)
|
rs778592523
|
0.00001
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly)
|
rs775472136
|
0.00001
|
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg)
|
rs1185197350
|
0.00001
|
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp)
|
rs754533251
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=)
|
rs756431455
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu)
|
rs746096431
|
0.00001
|
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro)
|
rs776157924
|
0.00001
|
NM_138694.4(PKHD1):c.8491A>G (p.Arg2831Gly)
|
rs767914998
|
0.00001
|
NM_138694.4(PKHD1):c.8555-2A>C
|
rs1020621286
|
0.00001
|
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)
|
rs779168950
|
0.00001
|
NM_138694.4(PKHD1):c.868G>A (p.Val290Ile)
|
rs773123823
|
0.00001
|
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr)
|
rs193185189
|
0.00001
|
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=)
|
rs1418482955
|
0.00001
|
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val)
|
rs773010322
|
0.00001
|
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)
|
rs768138709
|
0.00001
|
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu)
|
rs141912421
|
0.00001
|
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)
|
rs367678592
|
0.00001
|
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)
|
rs764734730
|
0.00001
|
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys)
|
rs769571577
|
0.00001
|
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly)
|
rs1477456222
|
0.00001
|
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)
|
rs957419550
|
0.00001
|
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
|
rs1242089464
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser)
|
rs1179113718
|
0.00001
|
NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu)
|
rs199853008
|
0.00001
|
NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?)
|
rs746234904
|
0.00001
|
NM_178170.3(NEK8):c.673G>C (p.Asp225His)
|
rs1403766728
|
0.00001
|
NM_198334.3(GANAB):c.2177T>C (p.Met726Thr)
|
rs772357517
|
0.00001
|
NM_198334.3(GANAB):c.2398-12C>T
|
rs751405998
|
0.00001
|
NM_198334.3(GANAB):c.415G>A (p.Glu139Lys)
|
rs1033886387
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:2089795-2185919)
|
|
|
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
|
|
|
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
|
|
|
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
|
|
|
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)
|
rs2110107236
|
|
NM_000297.4(PKD2):c.103_104delinsAA (p.Ala35Asn)
|
rs1726226920
|
|
NM_000297.4(PKD2):c.1047T>G (p.Ser349=)
|
|
|
NM_000297.4(PKD2):c.1047dup (p.Val350fs)
|
rs1578130597
|
|
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys)
|
rs375164861
|
|
NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly)
|
rs1560608801
|
|
NM_000297.4(PKD2):c.1087G>T (p.Gly363Ter)
|
|
|
NM_000297.4(PKD2):c.1094+1G>T
|
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1094+9C>A
|
|
|
NM_000297.4(PKD2):c.1098del (p.Ala365_Trp366insTer)
|
|
|
NM_000297.4(PKD2):c.109G>A (p.Gly37Ser)
|
rs1007960523
|
|
NM_000297.4(PKD2):c.110del (p.Gly37fs)
|
rs2110080128
|
|
NM_000297.4(PKD2):c.1128TAG[1] (p.Ser378del)
|
|
|
NM_000297.4(PKD2):c.1130G>A (p.Ser377Asn)
|
|
|
NM_000297.4(PKD2):c.1133G>A (p.Ser378Asn)
|
|
|
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)
|
rs121918039
|
|
NM_000297.4(PKD2):c.113_127delinsGCCT (p.Ala38fs)
|
|
|
NM_000297.4(PKD2):c.1142G>A (p.Gly381Glu)
|
|
|
NM_000297.4(PKD2):c.1144A>C (p.Ile382Leu)
|
|
|
NM_000297.4(PKD2):c.1146C>A (p.Ile382=)
|
rs1351905972
|
|
NM_000297.4(PKD2):c.1154C>G (p.Thr385Ser)
|
|
|
NM_000297.4(PKD2):c.1169del (p.Gly390fs)
|
|
|
NM_000297.4(PKD2):c.1172A>G (p.Tyr391Cys)
|
|
|
NM_000297.4(PKD2):c.1175A>T (p.Tyr392Phe)
|
|
|
NM_000297.4(PKD2):c.1241G>T (p.Trp414Leu)
|
|
|
NM_000297.4(PKD2):c.1242G>A (p.Trp414Ter)
|
|
|
NM_000297.4(PKD2):c.1252G>T (p.Gly418Ter)
|
|
|
NM_000297.4(PKD2):c.1261G>A (p.Ala421Thr)
|
rs748280556
|
|
NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser)
|
rs748280556
|
|
NM_000297.4(PKD2):c.1295A>G (p.Asn432Ser)
|
|
|
NM_000297.4(PKD2):c.1317del (p.Arg440fs)
|
|
|
NM_000297.4(PKD2):c.1320-2A>C
|
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1326G>T (p.Leu442Phe)
|
|
|
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg)
|
rs1727783547
|
|
NM_000297.4(PKD2):c.1346G>A (p.Gly449Asp)
|
rs1131408
|
|
NM_000297.4(PKD2):c.1349G>T (p.Gly450Val)
|
|
|
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)
|
rs1578135870
|
|
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)
|
rs121918042
|
|
NM_000297.4(PKD2):c.1399A>G (p.Thr467Ala)
|
|
|
NM_000297.4(PKD2):c.1417del (p.Leu473fs)
|
|
|
NM_000297.4(PKD2):c.1436T>A (p.Ile479Asn)
|
|
|
NM_000297.4(PKD2):c.1445del (p.Phe482fs)
|
rs1578135940
|
|
NM_000297.4(PKD2):c.1452C>G (p.Ile484Met)
|
|
|
NM_000297.4(PKD2):c.1486C>T (p.Arg496Cys)
|
rs977431912
|
|
NM_000297.4(PKD2):c.1501C>T (p.His501Tyr)
|
|
|
NM_000297.4(PKD2):c.1523A>G (p.Asn508Ser)
|
|
|
NM_000297.4(PKD2):c.152G>A (p.Gly51Asp)
|
|
|
NM_000297.4(PKD2):c.1543G>A (p.Val515Ile)
|
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.1548+3A>G
|
|
|
NM_000297.4(PKD2):c.1549-1G>A
|
rs1720121027
|
|
NM_000297.4(PKD2):c.1549-2A>T
|
|
|
NM_000297.4(PKD2):c.1549-5T>C
|
|
|
NM_000297.4(PKD2):c.1567G>A (p.Gly523Arg)
|
|
|
NM_000297.4(PKD2):c.1573A>C (p.Asn525His)
|
rs1720121916
|
|
NM_000297.4(PKD2):c.1580A>G (p.Tyr527Cys)
|
|
|
NM_000297.4(PKD2):c.1586C>T (p.Thr529Ile)
|
|
|
NM_000297.4(PKD2):c.1602_1605dup (p.Leu536fs)
|
|
|
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter)
|
rs1720124087
|
|
NM_000297.4(PKD2):c.1617G>A (p.Leu539=)
|
rs145297759
|
|
NM_000297.4(PKD2):c.163G>A (p.Glu55Lys)
|
|
|
NM_000297.4(PKD2):c.1641C>A (p.Asn547Lys)
|
|
|
NM_000297.4(PKD2):c.1657T>C (p.Tyr553His)
|
|
|
NM_000297.4(PKD2):c.165G>C (p.Glu55Asp)
|
|
|
NM_000297.4(PKD2):c.1668dup (p.Gln557fs)
|
rs1578139269
|
|
NM_000297.4(PKD2):c.1705G>T (p.Val569Phe)
|
|
|
NM_000297.4(PKD2):c.1709G>A (p.Trp570Ter)
|
|
|
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu)
|
rs1720129428
|
|
NM_000297.4(PKD2):c.1716+1G>A
|
|
|
NM_000297.4(PKD2):c.1716+2T>A
|
rs1720129561
|
|
NM_000297.4(PKD2):c.1717-3C>G
|
|
|
NM_000297.4(PKD2):c.1753C>T (p.Gln585Ter)
|
|
|
NM_000297.4(PKD2):c.1760C>A (p.Ser587Ter)
|
|
|
NM_000297.4(PKD2):c.1760C>T (p.Ser587Leu)
|
|
|
NM_000297.4(PKD2):c.1770G>A (p.Met590Ile)
|
|
|
NM_000297.4(PKD2):c.17G>T (p.Arg6Leu)
|
|
|
NM_000297.4(PKD2):c.1804_1805dup (p.Met603fs)
|
|
|
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del)
|
rs1720323681
|
|
NM_000297.4(PKD2):c.1816A>G (p.Ile606Val)
|
|
|
NM_000297.4(PKD2):c.1816A>T (p.Ile606Phe)
|
rs755666887
|
|
NM_000297.4(PKD2):c.1820T>C (p.Ile607Thr)
|
|
|
NM_000297.4(PKD2):c.182_206dup (p.Ala71fs)
|
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
NM_000297.4(PKD2):c.1913G>A (p.Arg638His)
|
|
|
NM_000297.4(PKD2):c.1935_1938delinsGAGATTTGGGCGATA (p.Asn645fs)
|
|
|
NM_000297.4(PKD2):c.193dup (p.Arg65fs)
|
|
|
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter)
|
rs146396414
|
|
NM_000297.4(PKD2):c.1963G>A (p.Val655Ile)
|
|
|
NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp)
|
rs138476749
|
|
NM_000297.4(PKD2):c.1970G>A (p.Gly657Glu)
|
|
|
NM_000297.4(PKD2):c.1982del (p.Phe661fs)
|
|
|
NM_000297.4(PKD2):c.1984A>C (p.Thr662Pro)
|
|
|
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile)
|
rs1720430638
|
|
NM_000297.4(PKD2):c.2001_2009del (p.Met668_Phe670del)
|
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2019+1G>C
|
|
|
NM_000297.4(PKD2):c.2019+9A>G
|
|
|
NM_000297.4(PKD2):c.2019G>A (p.Leu673=)
|
|
|
NM_000297.4(PKD2):c.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.2020-2A>G
|
|
|
NM_000297.4(PKD2):c.2020-5A>G
|
rs2110133917
|
|
NM_000297.4(PKD2):c.203dup (p.Ala69fs)
|
rs1187336837
|
|
NM_000297.4(PKD2):c.2042A>G (p.Asn681Ser)
|
|
|
NM_000297.4(PKD2):c.2074del (p.Ala692fs)
|
|
|
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs)
|
rs1578144898
|
|
NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter)
|
|
|
NM_000297.4(PKD2):c.2115_2118del (p.Lys706fs)
|
|
|
NM_000297.4(PKD2):c.2119-1G>T
|
|
|
NM_000297.4(PKD2):c.212C>T (p.Ala71Val)
|
|
|
NM_000297.4(PKD2):c.2140A>G (p.Lys714Glu)
|
|
|
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile)
|
rs943891159
|
|
NM_000297.4(PKD2):c.2159del (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu)
|
rs529945469
|
|
NM_000297.4(PKD2):c.2178dup (p.Glu727fs)
|
|
|
NM_000297.4(PKD2):c.2182_2183del (p.Leu729fs)
|
|
|
NM_000297.4(PKD2):c.2184T>A (p.Ser728Arg)
|
|
|
NM_000297.4(PKD2):c.218C>T (p.Ala73Val)
|
|
|
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser)
|
rs868519938
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000297.4(PKD2):c.2218G>A (p.Glu740Lys)
|
|
|
NM_000297.4(PKD2):c.2227C>T (p.Gln743Ter)
|
|
|
NM_000297.4(PKD2):c.2228A>G (p.Gln743Arg)
|
|
|
NM_000297.4(PKD2):c.2240+1G>A
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2241-2A>G
|
rs1560626499
|
|
NM_000297.4(PKD2):c.2241-2_2241-1insTT
|
|
|
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter)
|
rs1578147448
|
|
NM_000297.4(PKD2):c.2247_2248insA (p.His750fs)
|
|
|
NM_000297.4(PKD2):c.2258C>A (p.Ala753Glu)
|
|
|
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2305G>A (p.Glu769Lys)
|
|
|
NM_000297.4(PKD2):c.2318A>G (p.His773Arg)
|
rs748554287
|
|
NM_000297.4(PKD2):c.2342_2343del (p.Asp781fs)
|
|
|
NM_000297.4(PKD2):c.2343C>A (p.Asp781Glu)
|
|
|
NM_000297.4(PKD2):c.2356_2357del (p.Arg786fs)
|
|
|
NM_000297.4(PKD2):c.2356_2357dup (p.Glu787fs)
|
|
|
NM_000297.4(PKD2):c.2358+1G>A
|
|
|
NM_000297.4(PKD2):c.2358+4G>T
|
|
|
NM_000297.4(PKD2):c.2358+5G>A
|
rs1720774022
|
|
NM_000297.4(PKD2):c.235C>T (p.Leu79Phe)
|
rs1726235229
|
|
NM_000297.4(PKD2):c.2369A>G (p.Asp790Gly)
|
|
|
NM_000297.4(PKD2):c.2384del (p.Ser795fs)
|
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.242C>A (p.Ser81Ter)
|
|
|
NM_000297.4(PKD2):c.2444A>G (p.Asp815Gly)
|
|
|
NM_000297.4(PKD2):c.2476del (p.Arg826fs)
|
|
|
NM_000297.4(PKD2):c.2494A>G (p.Ser832Gly)
|
|
|
NM_000297.4(PKD2):c.2498G>A (p.Gly833Asp)
|
|
|
NM_000297.4(PKD2):c.2498del (p.Gly833fs)
|
|
|
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
|
|
|
NM_000297.4(PKD2):c.2503T>C (p.Ser835Pro)
|
|
|
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.2522+1G>A
|
|
|
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)
|
rs1560632930
|
|
NM_000297.4(PKD2):c.252_253delinsAT (p.Gln85Ter)
|
|
|
NM_000297.4(PKD2):c.2534G>A (p.Arg845Gln)
|
|
|
NM_000297.4(PKD2):c.2543G>C (p.Arg848Pro)
|
|
|
NM_000297.4(PKD2):c.2549del (p.Glu850fs)
|
|
|
NM_000297.4(PKD2):c.2563A>G (p.Ser855Gly)
|
|
|
NM_000297.4(PKD2):c.2573C>G (p.Ser858Cys)
|
|
|
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)
|
rs1578153598
|
|
NM_000297.4(PKD2):c.2614C>G (p.Arg872Gly)
|
rs755226061
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.261G>A (p.Trp87Ter)
|
rs1578111345
|
|
NM_000297.4(PKD2):c.2638del (p.Val880fs)
|
|
|
NM_000297.4(PKD2):c.2662del (p.Val888fs)
|
|
|
NM_000297.4(PKD2):c.2670+3del
|
|
|
NM_000297.4(PKD2):c.2670+5G>A
|
|
|
NM_000297.4(PKD2):c.2671-2A>G
|
|
|
NM_000297.4(PKD2):c.26C>G (p.Pro9Arg)
|
|
|
NM_000297.4(PKD2):c.2728C>T (p.Arg910Cys)
|
rs377398357
|
|
NM_000297.4(PKD2):c.2729G>A (p.Arg910His)
|
|
|
NM_000297.4(PKD2):c.2773A>T (p.Ile925Phe)
|
rs888130252
|
|
NM_000297.4(PKD2):c.2798T>C (p.Val933Ala)
|
|
|
NM_000297.4(PKD2):c.2819G>A (p.Arg940His)
|
rs756158263
|
|
NM_000297.4(PKD2):c.2825G>A (p.Arg942Lys)
|
|
|
NM_000297.4(PKD2):c.2833C>T (p.Arg945Cys)
|
|
|
NM_000297.4(PKD2):c.2834G>A (p.Arg945His)
|
|
|
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe)
|
rs749666891
|
|
NM_000297.4(PKD2):c.2849A>G (p.Gln950Arg)
|
|
|
NM_000297.4(PKD2):c.289G>A (p.Glu97Lys)
|
|
|
NM_000297.4(PKD2):c.290AGG[3] (p.Glu100_Glu102del)
|
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
NM_000297.4(PKD2):c.290AGG[8] (p.Glu102_Val103insGluGlu)
|
|
|
NM_000297.4(PKD2):c.31C>T (p.Gln11Ter)
|
|
|
NM_000297.4(PKD2):c.339del (p.Met114fs)
|
|
|
NM_000297.4(PKD2):c.41del (p.Asp14fs)
|
rs1474473957
|
|
NM_000297.4(PKD2):c.423dup (p.Gly142fs)
|
rs1726246959
|
|
NM_000297.4(PKD2):c.428G>A (p.Gly143Asp)
|
|
|
NM_000297.4(PKD2):c.440C>T (p.Ala147Val)
|
|
|
NM_000297.4(PKD2):c.449C>T (p.Pro150Leu)
|
|
|
NM_000297.4(PKD2):c.455G>A (p.Gly152Glu)
|
|
|
NM_000297.4(PKD2):c.468_486dup (p.Pro163fs)
|
|
|
NM_000297.4(PKD2):c.473del (p.Glu158fs)
|
rs1578111620
|
|
NM_000297.4(PKD2):c.478C>T (p.Gln160Ter)
|
|
|
NM_000297.4(PKD2):c.498_511del (p.Ser166fs)
|
|
|
NM_000297.4(PKD2):c.503delinsGGG (p.Val168fs)
|
|
|
NM_000297.4(PKD2):c.505G>C (p.Gly169Arg)
|
|
|
NM_000297.4(PKD2):c.514del (p.Asp172fs)
|
rs1232369409
|
|
NM_000297.4(PKD2):c.518C>T (p.Pro173Leu)
|
|
|
NM_000297.4(PKD2):c.531C>A (p.His177Gln)
|
|
|
NM_000297.4(PKD2):c.538C>G (p.Leu180Val)
|
|
|
NM_000297.4(PKD2):c.542A>C (p.Glu181Ala)
|
|
|
NM_000297.4(PKD2):c.547C>T (p.Gln183Ter)
|
|
|
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter)
|
rs1726258048
|
|
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter)
|
rs1163840810
|
|
NM_000297.4(PKD2):c.57del (p.Ala20fs)
|
|
|
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser)
|
rs1726264964
|
|
NM_000297.4(PKD2):c.619G>T (p.Glu207Ter)
|
|
|
NM_000297.4(PKD2):c.61C>T (p.Pro21Ser)
|
|
|
NM_000297.4(PKD2):c.635_647del (p.Asn212fs)
|
|
|
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)
|
rs2110089248
|
|
NM_000297.4(PKD2):c.643A>T (p.Lys215Ter)
|
|
|
NM_000297.4(PKD2):c.648C>A (p.Tyr216Ter)
|
|
|
NM_000297.4(PKD2):c.658G>C (p.Val220Leu)
|
|
|
NM_000297.4(PKD2):c.65G>A (p.Arg22His)
|
|
|
NM_000297.4(PKD2):c.664C>T (p.Arg222Trp)
|
|
|
NM_000297.4(PKD2):c.665G>A (p.Arg222Gln)
|
|
|
NM_000297.4(PKD2):c.690del (p.Leu231fs)
|
|
|
NM_000297.4(PKD2):c.695_696del (p.Ile232fs)
|
|
|
NM_000297.4(PKD2):c.710-2A>G
|
rs2110104722
|
|
NM_000297.4(PKD2):c.710-5T>C
|
|
|
NM_000297.4(PKD2):c.715_718dup (p.Gly240fs)
|
|
|
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter)
|
rs1578129049
|
|
NM_000297.4(PKD2):c.761C>A (p.Ser254Ter)
|
|
|
NM_000297.4(PKD2):c.776A>C (p.Asp259Ala)
|
rs768028361
|
|
NM_000297.4(PKD2):c.779C>A (p.Thr260Asn)
|
|
|
NM_000297.4(PKD2):c.783dup (p.Val262fs)
|
rs2110104877
|
|
NM_000297.4(PKD2):c.817_818del (p.Leu273fs)
|
rs1057518969
|
|
NM_000297.4(PKD2):c.826A>G (p.Met276Val)
|
|
|
NM_000297.4(PKD2):c.843+1G>A
|
rs1727333593
|
|
NM_000297.4(PKD2):c.843+1G>T
|
|
|
NM_000297.4(PKD2):c.843G>A (p.Lys281=)
|
rs1727333486
|
|
NM_000297.4(PKD2):c.844-1G>A
|
|
|
NM_000297.4(PKD2):c.848C>T (p.Thr283Ile)
|
|
|
NM_000297.4(PKD2):c.857C>T (p.Ser286Phe)
|
|
|
NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys)
|
rs1560608538
|
|
NM_000297.4(PKD2):c.876C>G (p.Tyr292Ter)
|
|
|
NM_000297.4(PKD2):c.892A>G (p.Ser298Gly)
|
|
|
NM_000297.4(PKD2):c.898C>G (p.Gln300Glu)
|
|
|
NM_000297.4(PKD2):c.89T>A (p.Met30Lys)
|
|
|
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
|
|
|
NM_000297.4(PKD2):c.916C>G (p.Arg306Gly)
|
rs200001068
|
|
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
|
rs200001068
|
|
NM_000297.4(PKD2):c.923del (p.Phe308fs)
|
|
|
NM_000297.4(PKD2):c.940C>G (p.Leu314Val)
|
|
|
NM_000297.4(PKD2):c.947T>A (p.Leu316Ter)
|
|
|
NM_000297.4(PKD2):c.950G>A (p.Gly317Glu)
|
rs2110107072
|
|
NM_000297.4(PKD2):c.952dup (p.Val318fs)
|
rs2110107069
|
|
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
|
rs749004212
|
|
NM_000297.4(PKD2):c.959G>A (p.Arg320Gln)
|
|
|
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)
|
rs1727420867
|
|
NM_000297.4(PKD2):c.992G>A (p.Cys331Tyr)
|
rs1578130536
|
|
NM_000297.4(PKD2):c.998del (p.Ile333fs)
|
|
|
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
|
|
|
NM_001009944.3(PKD1):c.10054G>A (p.Ala3352Thr)
|
|
|
NM_001009944.3(PKD1):c.10057G>A (p.Gly3353Arg)
|
|
|
NM_001009944.3(PKD1):c.10064C>T (p.Pro3355Leu)
|
|
|
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=)
|
|
|
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.10366G>A (p.Ala3456Thr)
|
|
|
NM_001009944.3(PKD1):c.10373C>T (p.Pro3458Leu)
|
|
|
NM_001009944.3(PKD1):c.10391C>T (p.Ser3464Phe)
|
|
|
NM_001009944.3(PKD1):c.10395C>T (p.Phe3465=)
|
|
|
NM_001009944.3(PKD1):c.10397C>G (p.Ser3466Ter)
|
|
|
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)
|
|
|
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.10453G>T (p.Ala3485Ser)
|
|
|
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.10619-13del
|
rs562614426
|
|
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.10652C>T (p.Pro3551Leu)
|
|
|
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)
|
|
|
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.1084G>A (p.Val362Met)
|
rs1428207672
|
|
NM_001009944.3(PKD1):c.10871C>T (p.Pro3624Leu)
|
|
|
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.10904C>A (p.Ala3635Asp)
|
|
|
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.10940G>A (p.Arg3647Gln)
|
rs1415072762
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs)
|
|
|
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=)
|
|
|
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)
|
|
|
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)
|
|
|
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.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
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.1133A>G (p.Gln378Arg)
|
|
|
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.11344G>A (p.Asp3782Asn)
|
|
|
NM_001009944.3(PKD1):c.11346del (p.Asp3782fs)
|
|
|
NM_001009944.3(PKD1):c.11347G>C (p.Val3783Leu)
|
|
|
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)
|
|
|
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)
|
|
|
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)
|
|
|
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.11813G>A (p.Arg3938Gln)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.11855G>A (p.Arg3952His)
|
|
|
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro)
|
|
|
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.11954C>G (p.Ser3985Cys)
|
|
|
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.12013C>T (p.Gln4005Ter)
|
|
|
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
|
|
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.12039C>T (p.Ser4013=)
|
|
|
NM_001009944.3(PKD1):c.1203G>A (p.Ala401=)
|
|
|
NM_001009944.3(PKD1):c.12053C>T (p.Thr4018Ile)
|
|
|
NM_001009944.3(PKD1):c.12078_12080del (p.Leu4027del)
|
|
|
NM_001009944.3(PKD1):c.12095G>T (p.Gly4032Val)
|
rs142768096
|
|
NM_001009944.3(PKD1):c.12105G>A (p.Val4035=)
|
|
|
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.12136C>G (p.Leu4046Val)
|
|
|
NM_001009944.3(PKD1):c.12139-1G>A
|
|
|
NM_001009944.3(PKD1):c.12148del (p.Ser4050fs)
|
|
|
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe)
|
rs186160250
|
|
NM_001009944.3(PKD1):c.12155T>A (p.Val4052Glu)
|
|
|
NM_001009944.3(PKD1):c.12162_12165del (p.Leu4055fs)
|
|
|
NM_001009944.3(PKD1):c.12181del (p.Ala4061fs)
|
|
|
NM_001009944.3(PKD1):c.121C>T (p.Pro41Ser)
|
|
|
NM_001009944.3(PKD1):c.12206C>T (p.Thr4069Ile)
|
|
|
NM_001009944.3(PKD1):c.12218C>G (p.Thr4073Ser)
|
|
|
NM_001009944.3(PKD1):c.12220_12221del (p.Leu4074fs)
|
|
|
NM_001009944.3(PKD1):c.12221dup (p.Cys4075fs)
|
|
|
NM_001009944.3(PKD1):c.12226C>G (p.Pro4076Ala)
|
|
|
NM_001009944.3(PKD1):c.12229G>T (p.Ala4077Ser)
|
|
|
NM_001009944.3(PKD1):c.12246_12247del (p.Ser4083fs)
|
|
|
NM_001009944.3(PKD1):c.12262G>T (p.Val4088Leu)
|
|
|
NM_001009944.3(PKD1):c.12298C>T (p.Arg4100Trp)
|
|
|
NM_001009944.3(PKD1):c.12308C>T (p.Ala4103Val)
|
|
|
NM_001009944.3(PKD1):c.1230G>A (p.Thr410=)
|
|
|
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)
|
rs1060499718
|
|
NM_001009944.3(PKD1):c.12313A>G (p.Ile4105Val)
|
|
|
NM_001009944.3(PKD1):c.12319C>T (p.Arg4107Cys)
|
|
|
NM_001009944.3(PKD1):c.12323G>A (p.Trp4108Ter)
|
|
|
NM_001009944.3(PKD1):c.12329A>T (p.Tyr4110Phe)
|
|
|
NM_001009944.3(PKD1):c.12332A>G (p.His4111Arg)
|
|
|
NM_001009944.3(PKD1):c.12332_12336del (p.His4111fs)
|
|
|
NM_001009944.3(PKD1):c.12357del (p.Pro4120fs)
|
|
|
NM_001009944.3(PKD1):c.12359C>T (p.Pro4120Leu)
|
|
|
NM_001009944.3(PKD1):c.12369G>A (p.Glu4123=)
|
|
|
NM_001009944.3(PKD1):c.12370C>A (p.Pro4124Thr)
|
|
|
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)
|
rs2091437893
|
|
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter)
|
rs756212622
|
|
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs)
|
rs2151680679
|
|
NM_001009944.3(PKD1):c.12386T>G (p.Met4129Arg)
|
rs2091436717
|
|
NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del)
|
|
|
NM_001009944.3(PKD1):c.12387G>A (p.Met4129Ile)
|
|
|
NM_001009944.3(PKD1):c.12387G>C (p.Met4129Ile)
|
|
|
NM_001009944.3(PKD1):c.12389T>C (p.Val4130Ala)
|
|
|
NM_001009944.3(PKD1):c.12391_12392delinsTT (p.Glu4131Leu)
|
|
|
NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)
|
|
|
NM_001009944.3(PKD1):c.12410T>C (p.Leu4137Pro)
|
|
|
NM_001009944.3(PKD1):c.12415C>T (p.Leu4139Phe)
|
|
|
NM_001009944.3(PKD1):c.12431G>C (p.Ser4144Thr)
|
|
|
NM_001009944.3(PKD1):c.12444+19G>T
|
|
|
NM_001009944.3(PKD1):c.12445-1G>T
|
|
|
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.12463T>C (p.Phe4155Leu)
|
|
|
NM_001009944.3(PKD1):c.12475G>T (p.Glu4159Ter)
|
|
|
NM_001009944.3(PKD1):c.12478C>T (p.Pro4160Ser)
|
|
|
NM_001009944.3(PKD1):c.12479C>G (p.Pro4160Arg)
|
|
|
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
|
|
NM_001009944.3(PKD1):c.1249G>A (p.Gly417Arg)
|
|
|
NM_001009944.3(PKD1):c.12501G>A (p.Arg4167=)
|
|
|
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)
|
rs1555444225
|
|
NM_001009944.3(PKD1):c.12525G>C (p.Val4175=)
|
|
|
NM_001009944.3(PKD1):c.12531del (p.Ser4179fs)
|
|
|
NM_001009944.3(PKD1):c.1253A>C (p.His418Pro)
|
|
|
NM_001009944.3(PKD1):c.1254dup (p.Cys419fs)
|
|
|
NM_001009944.3(PKD1):c.12554C>T (p.Ser4185Leu)
|
|
|
NM_001009944.3(PKD1):c.12557A>C (p.His4186Pro)
|
|
|
NM_001009944.3(PKD1):c.12557A>G (p.His4186Arg)
|
|
|
NM_001009944.3(PKD1):c.12565_12568delinsTCCA (p.Thr4189_Ser4190delinsSerThr)
|
|
|
NM_001009944.3(PKD1):c.12566C>T (p.Thr4189Ile)
|
|
|
NM_001009944.3(PKD1):c.12568T>A (p.Ser4190Thr)
|
|
|
NM_001009944.3(PKD1):c.12574A>C (p.Ser4192Arg)
|
|
|
NM_001009944.3(PKD1):c.12581dup (p.Asp4195fs)
|
|
|
NM_001009944.3(PKD1):c.12586_12589del (p.Asp4195_Gly4196insTer)
|
|
|
NM_001009944.3(PKD1):c.1258T>C (p.Tyr420His)
|
|
|
NM_001009944.3(PKD1):c.12590T>C (p.Leu4197Pro)
|
|
|
NM_001009944.3(PKD1):c.12602T>C (p.Leu4201Pro)
|
|
|
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.12632A>G (p.Glu4211Gly)
|
|
|
NM_001009944.3(PKD1):c.12641G>A (p.Arg4214His)
|
|
|
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe)
|
rs757068311
|
|
NM_001009944.3(PKD1):c.12646C>T (p.Gln4216Ter)
|
|
|
NM_001009944.3(PKD1):c.12648A>C (p.Gln4216His)
|
|
|
NM_001009944.3(PKD1):c.12656dup (p.Glu4220fs)
|
|
|
NM_001009944.3(PKD1):c.12657_12658delinsAT (p.Phe4219_Glu4220delinsLeuTer)
|
|
|
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
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.12758G>A (p.Arg4253Gln)
|
|
|
NM_001009944.3(PKD1):c.12779G>A (p.Arg4260His)
|
|
|
NM_001009944.3(PKD1):c.12779G>C (p.Arg4260Pro)
|
|
|
NM_001009944.3(PKD1):c.1277dup (p.Ala427fs)
|
|
|
NM_001009944.3(PKD1):c.12784C>T (p.Pro4262Ser)
|
|
|
NM_001009944.3(PKD1):c.12818G>A (p.Arg4273His)
|
|
|
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
|
|
NM_001009944.3(PKD1):c.12845A>C (p.Asp4282Ala)
|
|
|
NM_001009944.3(PKD1):c.12850G>A (p.Ala4284Thr)
|
|
|
NM_001009944.3(PKD1):c.12851C>T (p.Ala4284Val)
|
|
|
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)
|
|
|
NM_001009944.3(PKD1):c.12867_12905dup (p.Ser4301_Ser4302insArgThrProLeuArgAlaLysAsnLysValHisProSer)
|
|
|
NM_001009944.3(PKD1):c.12871C>A (p.Pro4291Thr)
|
|
|
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=)
|
|
|
NM_001009944.3(PKD1):c.1386-11C>T
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.1488delinsTC (p.Gly498fs)
|
|
|
NM_001009944.3(PKD1):c.149A>G (p.Asn50Ser)
|
|
|
NM_001009944.3(PKD1):c.1505del (p.Pro502fs)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.1525G>A (p.Val509Ile)
|
|
|
NM_001009944.3(PKD1):c.1529G>A (p.Arg510Gln)
|
|
|
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.1582T>G (p.Tyr528Asp)
|
|
|
NM_001009944.3(PKD1):c.1585G>A (p.Val529Ile)
|
|
|
NM_001009944.3(PKD1):c.1595_1598dup (p.Gln533fs)
|
|
|
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.1673C>T (p.Thr558Met)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.169C>T (p.Arg57Trp)
|
|
|
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.1754G>A (p.Arg585His)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.1916C>T (p.Ala639Val)
|
|
|
NM_001009944.3(PKD1):c.1919G>A (p.Cys640Tyr)
|
|
|
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
|
|
|
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)
|
|
|
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)
|
|
|
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.2222C>T (p.Pro741Leu)
|
|
|
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.2279G>T (p.Gly760Val)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.2362C>A (p.Pro788Thr)
|
|
|
NM_001009944.3(PKD1):c.2371C>T (p.Arg791Trp)
|
|
|
NM_001009944.3(PKD1):c.2377C>T (p.Pro793Ser)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.2495G>A (p.Arg832His)
|
|
|
NM_001009944.3(PKD1):c.2503C>T (p.Arg835Cys)
|
|
|
NM_001009944.3(PKD1):c.250G>A (p.Val84Ile)
|
|
|
NM_001009944.3(PKD1):c.2524_2525dup (p.Ser843fs)
|
|
|
NM_001009944.3(PKD1):c.2530G>C (p.Ala844Pro)
|
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.2536G>A (p.Val846Met)
|
|
|
NM_001009944.3(PKD1):c.2543A>C (p.Gln848Pro)
|
|
|
NM_001009944.3(PKD1):c.2550C>G (p.Asp850Glu)
|
|
|
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>A (p.Ala868Thr)
|
|
|
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.263C>T (p.Ala88Val)
|
|
|
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)
|
|
|
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
|
|
|
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)
|
|
|
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)
|
|
|
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)
|
|
|
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
|
|
|
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.3355C>A (p.Pro1119Thr)
|
|
|
NM_001009944.3(PKD1):c.3364G>A (p.Val1122Met)
|
|
|
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)
|
|
|
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)
|
|
|
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.3499T>C (p.Ser1167Pro)
|
|
|
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)
|
|
|
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.3620G>A (p.Arg1207His)
|
|
|
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.3697G>A (p.Ala1233Thr)
|
|
|
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)
|
|
|
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.3761C>T (p.Ser1254Leu)
|
|
|
NM_001009944.3(PKD1):c.3762G>A (p.Ser1254=)
|
|
|
NM_001009944.3(PKD1):c.3767C>T (p.Pro1256Leu)
|
|
|
NM_001009944.3(PKD1):c.3768G>A (p.Pro1256=)
|
|
|
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.37C>G (p.Leu13Val)
|
|
|
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.3827C>T (p.Ala1276Val)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.3865dup (p.Val1289fs)
|
|
|
NM_001009944.3(PKD1):c.387T>G (p.Cys129Trp)
|
|
|
NM_001009944.3(PKD1):c.3884A>C (p.Glu1295Ala)
|
|
|
NM_001009944.3(PKD1):c.3890T>C (p.Leu1297Pro)
|
|
|
NM_001009944.3(PKD1):c.3893G>A (p.Arg1298His)
|
|
|
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)
|
|
|
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)
|
|
|
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.4019G>A (p.Arg1340Gln)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
|
|
|
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.4191G>T (p.Glu1397Asp)
|
|
|
NM_001009944.3(PKD1):c.4193C>T (p.Ala1398Val)
|
|
|
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.4252A>T (p.Thr1418Ser)
|
|
|
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)
|
|
|
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.4355C>T (p.Ser1452Phe)
|
|
|
NM_001009944.3(PKD1):c.4369_4370del (p.Ala1458fs)
|
|
|
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.4472G>T (p.Gly1491Val)
|
|
|
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.4541C>G (p.Thr1514Ser)
|
|
|
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)
|
|
|
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.4723G>A (p.Gly1575Ser)
|
|
|
NM_001009944.3(PKD1):c.4737C>T (p.Arg1579=)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.4894A>T (p.Ile1632Leu)
|
|
|
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)
|
rs1596557266
|
|
NM_001009944.3(PKD1):c.4918G>A (p.Gly1640Ser)
|
|
|
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)
|
|
|
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=)
|
|
|
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.5093G>A (p.Arg1698Gln)
|
rs569887918
|
|
NM_001009944.3(PKD1):c.5099C>G (p.Thr1700Ser)
|
|
|
NM_001009944.3(PKD1):c.5116G>C (p.Ala1706Pro)
|
|
|
NM_001009944.3(PKD1):c.5122G>A (p.Ala1708Thr)
|
|
|
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.5210C>T (p.Thr1737Ile)
|
|
|
NM_001009944.3(PKD1):c.521G>C (p.Ser174Thr)
|
|
|
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter)
|
rs2092456617
|
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NM_001009944.3(PKD1):c.5229_5235del (p.Gly1744fs)
|
|
|
NM_001009944.3(PKD1):c.5244C>G (p.Val1748=)
|
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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
|
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|
NM_001009944.3(PKD1):c.529+1G>A
|
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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)
|
|
|
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.5362G>C (p.Gly1788Arg)
|
|
|
NM_001009944.3(PKD1):c.5369C>T (p.Ala1790Val)
|
|
|
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter)
|
rs2092452489
|
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NM_001009944.3(PKD1):c.5413_5453del (p.Leu1805fs)
|
|
|
NM_001009944.3(PKD1):c.5416A>G (p.Ser1806Gly)
|
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|
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)
|
|
|
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
|
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NM_001009944.3(PKD1):c.5495G>T (p.Gly1832Val)
|
|
|
NM_001009944.3(PKD1):c.5497A>C (p.Thr1833Pro)
|
|
|
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.5571G>A (p.Pro1857=)
|
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|
NM_001009944.3(PKD1):c.5580C>T (p.Gly1860=)
|
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|
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)
|
|
|
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)
|
|
|
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.5699C>T (p.Ala1900Val)
|
|
|
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=)
|
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|
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)
|
|
|
NM_001009944.3(PKD1):c.5758C>G (p.Arg1920Gly)
|
|
|
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
|
|
|
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.6070C>T (p.Arg2024Cys)
|
|
|
NM_001009944.3(PKD1):c.6090del (p.Val2031fs)
|
|
|
NM_001009944.3(PKD1):c.6091_6136del (p.Val2031fs)
|
|
|
NM_001009944.3(PKD1):c.6098C>T (p.Ala2033Val)
|
|
|
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.6178G>A (p.Ala2060Thr)
|
|
|
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.6227C>T (p.Ser2076Leu)
|
|
|
NM_001009944.3(PKD1):c.6230C>T (p.Ala2077Val)
|
|
|
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.6301C>T (p.Pro2101Ser)
|
|
|
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.6377C>T (p.Ala2126Val)
|
|
|
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.6457G>A (p.Val2153Met)
|
|
|
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)
|
|
|
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)
|
|
|
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.6571C>T (p.Arg2191Cys)
|
|
|
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
|
|
NM_001009944.3(PKD1):c.6599_6614dup (p.Leu2206fs)
|
|
|
NM_001009944.3(PKD1):c.659del (p.Gly220fs)
|
rs2151824233
|
|
NM_001009944.3(PKD1):c.6607C>T (p.Arg2203Cys)
|
|
|
NM_001009944.3(PKD1):c.6608G>A (p.Arg2203His)
|
|
|
NM_001009944.3(PKD1):c.6608G>T (p.Arg2203Leu)
|
|
|
NM_001009944.3(PKD1):c.6611_6612del (p.Val2204fs)
|
|
|
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)
|
rs1567218310
|
|
NM_001009944.3(PKD1):c.6631G>A (p.Val2211Met)
|
|
|
NM_001009944.3(PKD1):c.6644G>A (p.Arg2215Gln)
|
|
|
NM_001009944.3(PKD1):c.664G>A (p.Ala222Thr)
|
|
|
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
|
|
NM_001009944.3(PKD1):c.6656del (p.Pro2219fs)
|
|
|
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.6677G>A (p.Gly2226Glu)
|
|
|
NM_001009944.3(PKD1):c.667G>C (p.Ala223Pro)
|
|
|
NM_001009944.3(PKD1):c.6683A>C (p.Tyr2228Ser)
|
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
NM_001009944.3(PKD1):c.6693_6694del (p.Phe2232fs)
|
|
|
NM_001009944.3(PKD1):c.6709G>C (p.Gly2237Arg)
|
|
|
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter)
|
rs1567191609
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6729G>C (p.Gln2243His)
|
|
|
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs)
|
rs2151786400
|
|
NM_001009944.3(PKD1):c.6733A>T (p.Ile2245Phe)
|
|
|
NM_001009944.3(PKD1):c.6734_6737del (p.Ile2245fs)
|
|
|
NM_001009944.3(PKD1):c.6735C>G (p.Ile2245Met)
|
|
|
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)
|
rs1567191534
|
|
NM_001009944.3(PKD1):c.673_674del (p.Ser225fs)
|
|
|
NM_001009944.3(PKD1):c.674C>G (p.Ser225Trp)
|
|
|
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
|
rs1596550396
|
|
NM_001009944.3(PKD1):c.6755C>T (p.Ala2252Val)
|
|
|
NM_001009944.3(PKD1):c.6759del (p.Glu2254fs)
|
|
|
NM_001009944.3(PKD1):c.675G>C (p.Ser225=)
|
|
|
NM_001009944.3(PKD1):c.6760G>A (p.Glu2254Lys)
|
|
|
NM_001009944.3(PKD1):c.6763C>T (p.Arg2255Cys)
|
|
|
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del)
|
|
|
NM_001009944.3(PKD1):c.6786del (p.Gly2263fs)
|
|
|
NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter)
|
rs1312494071
|
|
NM_001009944.3(PKD1):c.6797G>A (p.Arg2266His)
|
|
|
NM_001009944.3(PKD1):c.6802_6803del (p.Trp2268fs)
|
|
|
NM_001009944.3(PKD1):c.6803G>A (p.Trp2268Ter)
|
|
|
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)
|
rs1567191179
|
|
NM_001009944.3(PKD1):c.6810C>G (p.Asp2270Glu)
|
|
|
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
|
|
|
NM_001009944.3(PKD1):c.6815G>A (p.Arg2272Gln)
|
|
|
NM_001009944.3(PKD1):c.6830A>T (p.Asp2277Val)
|
|
|
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
|
|
NM_001009944.3(PKD1):c.6881T>C (p.Leu2294Pro)
|
|
|
NM_001009944.3(PKD1):c.6890A>C (p.His2297Pro)
|
|
|
NM_001009944.3(PKD1):c.6892T>G (p.Trp2298Gly)
|
|
|
NM_001009944.3(PKD1):c.689G>T (p.Cys230Phe)
|
|
|
NM_001009944.3(PKD1):c.68C>G (p.Ala23Gly)
|
|
|
NM_001009944.3(PKD1):c.68C>T (p.Ala23Val)
|
|
|
NM_001009944.3(PKD1):c.6900T>A (p.Cys2300Ter)
|
|
|
NM_001009944.3(PKD1):c.6915+1G>A
|
rs2151785467
|
|
NM_001009944.3(PKD1):c.6915+3C>G
|
|
|
NM_001009944.3(PKD1):c.6916-10C>T
|
|
|
NM_001009944.3(PKD1):c.6916-5T>A
|
|
|
NM_001009944.3(PKD1):c.6916-9G>A
|
rs1567190244
|
|
NM_001009944.3(PKD1):c.6925G>T (p.Gly2309Cys)
|
|
|
NM_001009944.3(PKD1):c.692T>C (p.Leu231Pro)
|
|
|
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.6952C>T (p.Arg2318Cys)
|
rs768275494
|
|
NM_001009944.3(PKD1):c.6979C>G (p.Arg2327Gly)
|
|
|
NM_001009944.3(PKD1):c.6980G>A (p.Arg2327Gln)
|
|
|
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
|
|
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)
|
|
|
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
|
|
|
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)
|
|
|
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.7211G>C (p.Arg2404Pro)
|
|
|
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)
|
|
|
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.7271C>T (p.Thr2424Met)
|
rs1367567191
|
|
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.7466C>G (p.Thr2489Ser)
|
|
|
NM_001009944.3(PKD1):c.7469dup (p.Val2491fs)
|
|
|
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys)
|
|
|
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.7516G>A (p.Ala2506Thr)
|
|
|
NM_001009944.3(PKD1):c.7517C>T (p.Ala2506Val)
|
|
|
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.7615C>G (p.Leu2539Val)
|
|
|
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)
|
|
|
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.7735G>A (p.Gly2579Ser)
|
|
|
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)
|
|
|
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
|
|
|
NM_001009944.3(PKD1):c.7864-2A>T
|
|
|
NM_001009944.3(PKD1):c.788C>A (p.Thr263Asn)
|
|
|
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)
|
|
|
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
|
|
|
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)
|
|
|
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.8279T>C (p.Met2760Thr)
|
rs879809222
|
|
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)
|
|
|
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)
|
|
|
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)
|
|
|
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.8559C>G (p.Phe2853Leu)
|
|
|
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter)
|
rs1364976535
|
|
NM_001009944.3(PKD1):c.8566C>T (p.Gln2856Ter)
|
|
|
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)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.8707G>T (p.Ala2903Ser)
|
|
|
NM_001009944.3(PKD1):c.8708C>T (p.Ala2903Val)
|
|
|
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs)
|
rs2151754069
|
|
NM_001009944.3(PKD1):c.8725G>A (p.Val2909Ile)
|
|
|
NM_001009944.3(PKD1):c.8747C>T (p.Pro2916Leu)
|
|
|
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)
|
rs747638599
|
|
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)
|
|
|
NM_001009944.3(PKD1):c.8791+5G>A
|
rs751652400
|
|
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
|
|
|
NM_001009944.3(PKD1):c.8795A>T (p.His2932Leu)
|
|
|
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)
|
|
|
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.8890C>T (p.Arg2964Cys)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg)
|
rs757527492
|
|
NM_001009944.3(PKD1):c.8920C>G (p.Arg2974Gly)
|
|
|
NM_001009944.3(PKD1):c.8921G>A (p.Arg2974Gln)
|
|
|
NM_001009944.3(PKD1):c.8930C>T (p.Thr2977Ile)
|
|
|
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del)
|
rs1358948221
|
|
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)
|
|
|
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.9034A>G (p.Thr3012Ala)
|
|
|
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)
|
|
|
NM_001009944.3(PKD1):c.9142C>T (p.Leu3048Phe)
|
|
|
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=)
|
|
|
NM_001009944.3(PKD1):c.9202-13T>A
|
|
|
NM_001009944.3(PKD1):c.9202-3C>A
|
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.9262_9263insGT (p.Tyr3088fs)
|
|
|
NM_001009944.3(PKD1):c.9262dup (p.Tyr3088fs)
|
|
|
NM_001009944.3(PKD1):c.9264del (p.Thr3087_Tyr3088insTer)
|
|
|
NM_001009944.3(PKD1):c.9265A>G (p.Met3089Val)
|
|
|
NM_001009944.3(PKD1):c.928G>A (p.Gly310Ser)
|
|
|
NM_001009944.3(PKD1):c.9296del (p.Asp3099fs)
|
|
|
NM_001009944.3(PKD1):c.9302T>A (p.Leu3101Ter)
|
|
|
NM_001009944.3(PKD1):c.9329C>G (p.Pro3110Arg)
|
|
|
NM_001009944.3(PKD1):c.932_960del (p.Ser311fs)
|
|
|
NM_001009944.3(PKD1):c.9334T>C (p.Cys3112Arg)
|
rs1405051804
|
|
NM_001009944.3(PKD1):c.934G>C (p.Ala312Pro)
|
|
|
NM_001009944.3(PKD1):c.9368T>A (p.Leu3123His)
|
|
|
NM_001009944.3(PKD1):c.9395C>G (p.Ser3132Ter)
|
|
|
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu)
|
rs2092119222
|
|
NM_001009944.3(PKD1):c.9398G>A (p.Gly3133Asp)
|
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
|
|
|
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu)
|
rs1358566538
|
|
NM_001009944.3(PKD1):c.9413T>A (p.Val3138Glu)
|
|
|
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.9431G>A (p.Gly3144Glu)
|
|
|
NM_001009944.3(PKD1):c.9451del (p.His3151fs)
|
|
|
NM_001009944.3(PKD1):c.9461T>C (p.Leu3154Pro)
|
|
|
NM_001009944.3(PKD1):c.946G>A (p.Ala316Thr)
|
|
|
NM_001009944.3(PKD1):c.9481C>T (p.His3161Tyr)
|
|
|
NM_001009944.3(PKD1):c.9485G>A (p.Arg3162His)
|
|
|
NM_001009944.3(PKD1):c.9504C>G (p.Phe3168Leu)
|
|
|
NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val)
|
rs2092048001
|
|
NM_001009944.3(PKD1):c.9522del (p.His3174fs)
|
|
|
NM_001009944.3(PKD1):c.9535G>A (p.Val3179Met)
|
|
|
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)
|
rs2092047055
|
|
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)
|
rs1485297878
|
|
NM_001009944.3(PKD1):c.9555G>A (p.Trp3185Ter)
|
|
|
NM_001009944.3(PKD1):c.9556C>G (p.His3186Asp)
|
|
|
NM_001009944.3(PKD1):c.9559G>A (p.Asp3187Asn)
|
|
|
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)
|
rs869312944
|
|
NM_001009944.3(PKD1):c.9562A>T (p.Asn3188Tyr)
|
|
|
NM_001009944.3(PKD1):c.9563_9568+2delinsCTCGG
|
|
|
NM_001009944.3(PKD1):c.9569-1G>A
|
|
|
NM_001009944.3(PKD1):c.9588C>G (p.Phe3196Leu)
|
|
|
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter)
|
rs1474701377
|
|
NM_001009944.3(PKD1):c.9595_9618del (p.His3199_Gln3206del)
|
|
|
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe)
|
rs1422698524
|
|
NM_001009944.3(PKD1):c.9604G>A (p.Val3202Ile)
|
|
|
NM_001009944.3(PKD1):c.9607_9608del (p.Arg3203fs)
|
|
|
NM_001009944.3(PKD1):c.9611A>T (p.Asp3204Val)
|
|
|
NM_001009944.3(PKD1):c.9622G>A (p.Ala3208Thr)
|
|
|
NM_001009944.3(PKD1):c.9654G>A (p.Trp3218Ter)
|
|
|
NM_001009944.3(PKD1):c.9656T>G (p.Leu3219Arg)
|
|
|
NM_001009944.3(PKD1):c.9659C>T (p.Ser3220Leu)
|
|
|
NM_001009944.3(PKD1):c.9660G>A (p.Ser3220=)
|
|
|
NM_001009944.3(PKD1):c.9672G>C (p.Glu3224Asp)
|
|
|
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del)
|
rs1555449461
|
|
NM_001009944.3(PKD1):c.9678C>G (p.Asn3226Lys)
|
|
|
NM_001009944.3(PKD1):c.9678_9679insA (p.Gly3227fs)
|
|
|
NM_001009944.3(PKD1):c.9682_9683dup (p.Leu3229fs)
|
|
|
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs)
|
rs2151740671
|
|
NM_001009944.3(PKD1):c.9685C>G (p.Leu3229Val)
|
|
|
NM_001009944.3(PKD1):c.9686del (p.Leu3229fs)
|
|
|
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter)
|
rs2151740638
|
|
NM_001009944.3(PKD1):c.9695A>G (p.Lys3232Arg)
|
rs988225678
|
|
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val)
|
|
|
NM_001009944.3(PKD1):c.9714C>T (p.Ser3238=)
|
|
|
NM_001009944.3(PKD1):c.9715G>A (p.Asp3239Asn)
|
|
|
NM_001009944.3(PKD1):c.9731G>A (p.Arg3244His)
|
|
|
NM_001009944.3(PKD1):c.9760C>T (p.Gln3254Ter)
|
|
|
NM_001009944.3(PKD1):c.9764G>A (p.Arg3255His)
|
|
|
NM_001009944.3(PKD1):c.9773_9787del (p.Phe3258_Ile3262del)
|
|
|
NM_001009944.3(PKD1):c.9777C>G (p.Asp3259Glu)
|
|
|
NM_001009944.3(PKD1):c.9789G>T (p.Trp3263Cys)
|
|
|
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr)
|
|
|
NM_001009944.3(PKD1):c.97T>C (p.Cys33Arg)
|
|
|
NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp)
|
|
|
NM_001009944.3(PKD1):c.9806G>A (p.Arg3269Gln)
|
|
|
NM_001009944.3(PKD1):c.9818G>C (p.Ser3273Thr)
|
|
|
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs)
|
rs1596512729
|
|
NM_001009944.3(PKD1):c.9827C>G (p.Thr3276Ser)
|
|
|
NM_001009944.3(PKD1):c.9832A>G (p.Ile3278Val)
|
|
|
NM_001009944.3(PKD1):c.9834C>G (p.Ile3278Met)
|
|
|
NM_001009944.3(PKD1):c.9835C>T (p.Gln3279Ter)
|
|
|
NM_001009944.3(PKD1):c.9842C>G (p.Ala3281Gly)
|
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
NM_001009944.3(PKD1):c.9873C>G (p.Phe3291Leu)
|
|
|
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
|
|
|
NM_001009944.3(PKD1):c.9886dup (p.Ala3296fs)
|
|
|
NM_001009944.3(PKD1):c.989G>A (p.Arg330His)
|
|
|
NM_001009944.3(PKD1):c.9904G>A (p.Val3302Ile)
|
|
|
NM_001009944.3(PKD1):c.9904G>C (p.Val3302Leu)
|
|
|
NM_001009944.3(PKD1):c.9904G>T (p.Val3302Phe)
|
|
|
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)
|
|
|
NM_001009944.3(PKD1):c.9924-1G>C
|
rs2151738493
|
|
NM_001009944.3(PKD1):c.9924-9_9924-7del
|
rs892390487
|
|
NM_001009944.3(PKD1):c.9930dup (p.His3311fs)
|
|
|
NM_001009944.3(PKD1):c.9931C>T (p.His3311Tyr)
|
|
|
NM_001009944.3(PKD1):c.994C>T (p.His332Tyr)
|
|
|
NM_001009944.3(PKD1):c.9965C>T (p.Thr3322Ile)
|
|
|
NM_001009944.3(PKD1):c.9983dup (p.Ser3329fs)
|
|
|
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met)
|
rs541894980
|
|
NM_001009944.3(PKD1):c.9994G>T (p.Val3332Phe)
|
|
|
NM_001009944.3(PKD1):c.9997G>C (p.Val3333Leu)
|
|
|
NM_003361.4(UMOD):c.1009G>A (p.Ala337Thr)
|
|
|
NM_003361.4(UMOD):c.102A>C (p.Glu34Asp)
|
|
|
NM_003361.4(UMOD):c.1063G>A (p.Asp355Asn)
|
|
|
NM_003361.4(UMOD):c.1069G>T (p.Val357Phe)
|
|
|
NM_003361.4(UMOD):c.1081C>A (p.Leu361Met)
|
|
|
NM_003361.4(UMOD):c.1094G>A (p.Arg365Gln)
|
|
|
NM_003361.4(UMOD):c.1100C>G (p.Ser367Trp)
|
rs138178893
|
|
NM_003361.4(UMOD):c.1148C>T (p.Pro383Leu)
|
|
|
NM_003361.4(UMOD):c.114T>C (p.Asn38=)
|
rs766555124
|
|
NM_003361.4(UMOD):c.116C>A (p.Ala39Asp)
|
rs762973149
|
|
NM_003361.4(UMOD):c.1182+10G>A
|
|
|
NM_003361.4(UMOD):c.1182+5G>A
|
|
|
NM_003361.4(UMOD):c.1183-15del
|
|
|
NM_003361.4(UMOD):c.1183-3C>A
|
|
|
NM_003361.4(UMOD):c.1189G>A (p.Glu397Lys)
|
|
|
NM_003361.4(UMOD):c.1195del (p.His399fs)
|
rs780493255
|
|
NM_003361.4(UMOD):c.1198G>A (p.Ala400Thr)
|
|
|
NM_003361.4(UMOD):c.1217T>A (p.Leu406His)
|
|
|
NM_003361.4(UMOD):c.125C>T (p.Thr42Met)
|
|
|
NM_003361.4(UMOD):c.1271C>T (p.Ala424Val)
|
|
|
NM_003361.4(UMOD):c.1285dup (p.Leu429fs)
|
|
|
NM_003361.4(UMOD):c.1312G>T (p.Ala438Ser)
|
|
|
NM_003361.4(UMOD):c.1316T>C (p.Leu439Pro)
|
|
|
NM_003361.4(UMOD):c.1320G>T (p.Gln440His)
|
|
|
NM_003361.4(UMOD):c.1331+7C>T
|
|
|
NM_003361.4(UMOD):c.1332T>A (p.Ser444Arg)
|
|
|
NM_003361.4(UMOD):c.1351G>A (p.Gly451Ser)
|
|
|
NM_003361.4(UMOD):c.1352G>A (p.Gly451Asp)
|
|
|
NM_003361.4(UMOD):c.1364T>G (p.Met455Arg)
|
|
|
NM_003361.4(UMOD):c.1383G>C (p.Ala461=)
|
|
|
NM_003361.4(UMOD):c.139G>A (p.Val47Ile)
|
rs917737950
|
|
NM_003361.4(UMOD):c.1402T>C (p.Tyr468His)
|
|
|
NM_003361.4(UMOD):c.1406C>A (p.Thr469Lys)
|
|
|
NM_003361.4(UMOD):c.1411C>G (p.Pro471Ala)
|
|
|
NM_003361.4(UMOD):c.1429G>A (p.Val477Met)
|
|
|
NM_003361.4(UMOD):c.1458C>A (p.Tyr486Ter)
|
|
|
NM_003361.4(UMOD):c.1469T>C (p.Met490Thr)
|
|
|
NM_003361.4(UMOD):c.146C>T (p.Thr49Met)
|
|
|
NM_003361.4(UMOD):c.1475A>G (p.Asp492Gly)
|
|
|
NM_003361.4(UMOD):c.1499C>T (p.Ala500Val)
|
|
|
NM_003361.4(UMOD):c.1507A>C (p.Met503Leu)
|
|
|
NM_003361.4(UMOD):c.151A>C (p.Thr51Pro)
|
|
|
NM_003361.4(UMOD):c.152C>A (p.Thr51Asn)
|
|
|
NM_003361.4(UMOD):c.1544C>T (p.Thr515Met)
|
|
|
NM_003361.4(UMOD):c.1550C>A (p.Pro517His)
|
|
|
NM_003361.4(UMOD):c.1552C>T (p.Leu518=)
|
|
|
NM_003361.4(UMOD):c.1570C>T (p.Gln524Ter)
|
|
|
NM_003361.4(UMOD):c.1577+11G>A
|
rs184055420
|
|
NM_003361.4(UMOD):c.1612G>A (p.Val538Met)
|
|
|
NM_003361.4(UMOD):c.165C>T (p.Gly55=)
|
rs1478057939
|
|
NM_003361.4(UMOD):c.1672A>G (p.Asn558Asp)
|
|
|
NM_003361.4(UMOD):c.1691T>A (p.Leu564Gln)
|
|
|
NM_003361.4(UMOD):c.1699G>A (p.Glu567Lys)
|
|
|
NM_003361.4(UMOD):c.1701_1715del (p.Glu567_Cys571del)
|
|
|
NM_003361.4(UMOD):c.172G>A (p.Gly58Ser)
|
|
|
NM_003361.4(UMOD):c.172G>T (p.Gly58Cys)
|
|
|
NM_003361.4(UMOD):c.1737G>C (p.Lys579Asn)
|
|
|
NM_003361.4(UMOD):c.1772G>T (p.Ser591Ile)
|
|
|
NM_003361.4(UMOD):c.1780G>A (p.Asp594Asn)
|
|
|
NM_003361.4(UMOD):c.1789C>T (p.Arg597Cys)
|
|
|
NM_003361.4(UMOD):c.1807C>T (p.Pro603Ser)
|
|
|
NM_003361.4(UMOD):c.1811T>G (p.Ile604Ser)
|
|
|
NM_003361.4(UMOD):c.1816C>T (p.Arg606Trp)
|
|
|
NM_003361.4(UMOD):c.1837G>A (p.Val613Ile)
|
|
|
NM_003361.4(UMOD):c.188G>C (p.Cys63Ser)
|
|
|
NM_003361.4(UMOD):c.19A>G (p.Thr7Ala)
|
|
|
NM_003361.4(UMOD):c.200A>G (p.Asp67Gly)
|
|
|
NM_003361.4(UMOD):c.202G>A (p.Glu68Lys)
|
rs1965761636
|
|
NM_003361.4(UMOD):c.207C>A (p.Cys69Ter)
|
|
|
NM_003361.4(UMOD):c.230G>C (p.Cys77Ser)
|
rs121917768
|
|
NM_003361.4(UMOD):c.248G>A (p.Cys83Tyr)
|
|
|
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp)
|
rs1449715458
|
|
NM_003361.4(UMOD):c.254A>T (p.Asn85Ile)
|
|
|
NM_003361.4(UMOD):c.272C>T (p.Ser91Phe)
|
|
|
NM_003361.4(UMOD):c.272_274del (p.Ser91del)
|
rs1965755740
|
|
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
|
rs878855325
|
|
NM_003361.4(UMOD):c.286G>A (p.Glu96Lys)
|
|
|
NM_003361.4(UMOD):c.302C>A (p.Ser101Ter)
|
|
|
NM_003361.4(UMOD):c.307G>A (p.Gly103Ser)
|
|
|
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)
|
rs398123697
|
|
NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr)
|
rs2141676232
|
|
NM_003361.4(UMOD):c.343C>A (p.Pro115Thr)
|
|
|
NM_003361.4(UMOD):c.346G>A (p.Gly116Arg)
|
|
|
NM_003361.4(UMOD):c.358T>C (p.Cys120Arg)
|
|
|
NM_003361.4(UMOD):c.361C>T (p.His121Tyr)
|
|
|
NM_003361.4(UMOD):c.374C>A (p.Thr125Lys)
|
|
|
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg)
|
rs121917769
|
|
NM_003361.4(UMOD):c.389T>C (p.Val130Ala)
|
|
|
NM_003361.4(UMOD):c.404G>T (p.Cys135Phe)
|
|
|
NM_003361.4(UMOD):c.424C>T (p.Arg142Trp)
|
|
|
NM_003361.4(UMOD):c.425G>T (p.Arg142Leu)
|
|
|
NM_003361.4(UMOD):c.452C>A (p.Ser151Tyr)
|
|
|
NM_003361.4(UMOD):c.464G>C (p.Cys155Ser)
|
|
|
NM_003361.4(UMOD):c.466G>A (p.Gly156Arg)
|
|
|
NM_003361.4(UMOD):c.481T>C (p.Cys161Arg)
|
|
|
NM_003361.4(UMOD):c.505G>A (p.Val169Met)
|
|
|
NM_003361.4(UMOD):c.510C>G (p.Cys170Trp)
|
|
|
NM_003361.4(UMOD):c.527C>A (p.Ala176Glu)
|
|
|
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)
|
rs1555487528
|
|
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)
|
rs1228791562
|
|
NM_003361.4(UMOD):c.533G>T (p.Arg178Leu)
|
|
|
NM_003361.4(UMOD):c.539T>C (p.Leu180Pro)
|
rs794727496
|
|
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys)
|
rs1064796542
|
|
NM_003361.4(UMOD):c.553C>G (p.Arg185Gly)
|
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NM_003361.4(UMOD):c.553C>T (p.Arg185Cys)
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rs1567310155
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NM_003361.4(UMOD):c.554G>C (p.Arg185Pro)
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NM_003361.4(UMOD):c.555C>T (p.Arg185=)
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rs866510195
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NM_003361.4(UMOD):c.566A>T (p.Tyr189Phe)
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NM_003361.4(UMOD):c.567C>G (p.Tyr189Ter)
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NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)
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rs1567310019
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NM_003361.4(UMOD):c.611G>A (p.Arg204His)
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NM_003361.4(UMOD):c.628G>A (p.Gly210Ser)
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rs1567309965
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NM_003361.4(UMOD):c.637A>C (p.Met213Leu)
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NM_003361.4(UMOD):c.637A>G (p.Met213Val)
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NM_003361.4(UMOD):c.643G>A (p.Glu215Lys)
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NM_003361.4(UMOD):c.688T>C (p.Trp230Arg)
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NM_003361.4(UMOD):c.707C>T (p.Pro236Leu)
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rs1447458978
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NM_003361.4(UMOD):c.713G>C (p.Ser238Thr)
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NM_003361.4(UMOD):c.732C>G (p.Ser244Arg)
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NM_003361.4(UMOD):c.733C>T (p.Arg245Cys)
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NM_003361.4(UMOD):c.734G>A (p.Arg245His)
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NM_003361.4(UMOD):c.745_746delinsTT (p.Ala249Leu)
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NM_003361.4(UMOD):c.74A>T (p.Asp25Val)
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NM_003361.4(UMOD):c.806G>T (p.Gly269Val)
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NM_003361.4(UMOD):c.840C>T (p.Pro280=)
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rs78691203
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NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)
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rs766919534
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NM_003361.4(UMOD):c.860G>A (p.Cys287Tyr)
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NM_003361.4(UMOD):c.865+11G>T
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NM_003361.4(UMOD):c.867C>A (p.Asp289Glu)
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NM_003361.4(UMOD):c.873C>G (p.Ser291Arg)
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NM_003361.4(UMOD):c.88+2T>C
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NM_003361.4(UMOD):c.889T>C (p.Cys297Arg)
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NM_003361.4(UMOD):c.909C>A (p.Asp303Glu)
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NM_003361.4(UMOD):c.913G>A (p.Asp305Asn)
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NM_003361.4(UMOD):c.93G>T (p.Trp31Cys)
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NM_003361.4(UMOD):c.947A>T (p.Gln316Leu)
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NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)
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rs1555487316
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NM_003361.4(UMOD):c.951C>A (p.Cys317Ter)
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NM_003361.4(UMOD):c.952A>C (p.Lys318Gln)
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NM_003361.4(UMOD):c.97T>C (p.Ser33Pro)
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NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
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rs398124475
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NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)
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rs1554216538
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NM_138694.4(PKHD1):c.10099C>T (p.Pro3367Ser)
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NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro)
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rs2150962340
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NM_138694.4(PKHD1):c.10127C>T (p.Ala3376Val)
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NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter)
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rs2150962096
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NM_138694.4(PKHD1):c.1013T>C (p.Val338Ala)
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NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His)
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rs752841263
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NM_138694.4(PKHD1):c.10153G>A (p.Ala3385Thr)
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rs200762675
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NM_138694.4(PKHD1):c.10157-3T>C
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NM_138694.4(PKHD1):c.10199dup (p.Met3400fs)
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rs1057517249
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NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu)
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NM_138694.4(PKHD1):c.10226A>T (p.Asp3409Val)
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NM_138694.4(PKHD1):c.10273C>T (p.Gln3425Ter)
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NM_138694.4(PKHD1):c.10291G>T (p.Val3431Leu)
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NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp)
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rs756792624
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NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)
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rs1446729264
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NM_138694.4(PKHD1):c.10357T>G (p.Ser3453Ala)
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NM_138694.4(PKHD1):c.10360G>A (p.Gly3454Arg)
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NM_138694.4(PKHD1):c.10376T>C (p.Phe3459Ser)
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NM_138694.4(PKHD1):c.10408A>G (p.Lys3470Glu)
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NM_138694.4(PKHD1):c.10452del (p.Leu3485fs)
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NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
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rs771623148
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NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser)
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rs1581894231
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NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro)
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rs1554183514
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NM_138694.4(PKHD1):c.10492G>C (p.Val3498Leu)
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NM_138694.4(PKHD1):c.1056G>C (p.Trp352Cys)
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NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=)
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rs2150414839
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NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
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rs752889346
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NM_138694.4(PKHD1):c.10639del (p.Leu3547fs)
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NM_138694.4(PKHD1):c.10646del (p.Gly3549fs)
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NM_138694.4(PKHD1):c.10660G>T (p.Glu3554Ter)
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NM_138694.4(PKHD1):c.10722del (p.Gly3575fs)
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NM_138694.4(PKHD1):c.10724G>A (p.Gly3575Asp)
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NM_138694.4(PKHD1):c.10724G>C (p.Gly3575Ala)
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NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
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rs148300854
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NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs)
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rs1195276132
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NM_138694.4(PKHD1):c.10780C>T (p.Gln3594Ter)
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NM_138694.4(PKHD1):c.10787G>A (p.Arg3596Lys)
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NM_138694.4(PKHD1):c.10788G>T (p.Arg3596Ser)
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NM_138694.4(PKHD1):c.10817A>T (p.Glu3606Val)
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NM_138694.4(PKHD1):c.1081C>T (p.Pro361Ser)
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NM_138694.4(PKHD1):c.10820C>A (p.Thr3607Asn)
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NM_138694.4(PKHD1):c.10844G>A (p.Arg3615Lys)
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NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)
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rs1554183235
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NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
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rs1562040783
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NM_138694.4(PKHD1):c.10861A>C (p.Asn3621His)
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NM_138694.4(PKHD1):c.10883C>G (p.Thr3628Ser)
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NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)
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rs573293029
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NM_138694.4(PKHD1):c.10940A>G (p.His3647Arg)
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NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
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NM_138694.4(PKHD1):c.10957delinsTG (p.Met3653fs)
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NM_138694.4(PKHD1):c.109T>C (p.Trp37Arg)
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NM_138694.4(PKHD1):c.11006C>T (p.Ser3669Leu)
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NM_138694.4(PKHD1):c.1100A>G (p.Gln367Arg)
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NM_138694.4(PKHD1):c.11074C>G (p.Arg3692Gly)
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NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
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rs769559267
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NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
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NM_138694.4(PKHD1):c.110G>A (p.Trp37Ter)
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NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs)
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rs1554183012
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NM_138694.4(PKHD1):c.11165T>C (p.Ile3722Thr)
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NM_138694.4(PKHD1):c.11168G>A (p.Gly3723Asp)
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NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
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rs1582038191
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NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)
|
rs1554176504
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NM_138694.4(PKHD1):c.11261T>C (p.Val3754Ala)
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NM_138694.4(PKHD1):c.11264G>A (p.Gly3755Glu)
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NM_138694.4(PKHD1):c.11272C>T (p.Leu3758Phe)
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NM_138694.4(PKHD1):c.11308C>A (p.Gln3770Lys)
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NM_138694.4(PKHD1):c.11310G>C (p.Gln3770His)
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NM_138694.4(PKHD1):c.11335C>G (p.Pro3779Ala)
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NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)
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NM_138694.4(PKHD1):c.11371G>A (p.Glu3791Lys)
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NM_138694.4(PKHD1):c.11377G>A (p.Ala3793Thr)
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NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val)
|
rs1299129734
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NM_138694.4(PKHD1):c.1139T>C (p.Phe380Ser)
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NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter)
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rs1215290114
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NM_138694.4(PKHD1):c.11408dup (p.Ala3804fs)
|
rs2150329535
|
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NM_138694.4(PKHD1):c.11452G>A (p.Val3818Ile)
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NM_138694.4(PKHD1):c.11462C>T (p.Ser3821Phe)
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NM_138694.4(PKHD1):c.11525G>A (p.Arg3842Gln)
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rs76572975
|
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NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser)
|
rs548244367
|
|
NM_138694.4(PKHD1):c.11576T>C (p.Ile3859Thr)
|
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NM_138694.4(PKHD1):c.11608T>C (p.Ser3870Pro)
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NM_138694.4(PKHD1):c.1165A>G (p.Thr389Ala)
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NM_138694.4(PKHD1):c.11666-2A>G
|
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NM_138694.4(PKHD1):c.11716C>A (p.His3906Asn)
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NM_138694.4(PKHD1):c.11717A>G (p.His3906Arg)
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NM_138694.4(PKHD1):c.11725A>G (p.Ile3909Val)
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NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly)
|
rs1561981487
|
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NM_138694.4(PKHD1):c.11785G>A (p.Asp3929Asn)
|
|
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NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)
|
rs1582024305
|
|
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=)
|
rs779069598
|
|
NM_138694.4(PKHD1):c.11849T>C (p.Val3950Ala)
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NM_138694.4(PKHD1):c.11860A>G (p.Lys3954Glu)
|
|
|
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=)
|
rs2150241037
|
|
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter)
|
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|
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)
|
rs1554229312
|
|
NM_138694.4(PKHD1):c.12008A>G (p.Gln4003Arg)
|
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|
NM_138694.4(PKHD1):c.12036del (p.Gly4013fs)
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NM_138694.4(PKHD1):c.12061_12062delinsAA (p.Cys4021Asn)
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NM_138694.4(PKHD1):c.1208G>A (p.Ser403Asn)
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NM_138694.4(PKHD1):c.12140C>T (p.Ser4047Phe)
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NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter)
|
rs745888824
|
|
NM_138694.4(PKHD1):c.12187C>T (p.His4063Tyr)
|
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|
NM_138694.4(PKHD1):c.1223del (p.Pro408fs)
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NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)
|
rs138672830
|
|
NM_138694.4(PKHD1):c.1255_1256delinsTC (p.Val419Ser)
|
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|
NM_138694.4(PKHD1):c.1258G>A (p.Gly420Ser)
|
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NM_138694.4(PKHD1):c.1259G>A (p.Gly420Asp)
|
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|
NM_138694.4(PKHD1):c.1260del (p.Thr421fs)
|
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|
NM_138694.4(PKHD1):c.126del (p.Phe42fs)
|
rs760586271
|
|
NM_138694.4(PKHD1):c.1285G>A (p.Glu429Lys)
|
|
|
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter)
|
rs2128212671
|
|
NM_138694.4(PKHD1):c.1300G>T (p.Glu434Ter)
|
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|
NM_138694.4(PKHD1):c.130G>A (p.Gly44Ser)
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|
NM_138694.4(PKHD1):c.131-13del
|
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|
NM_138694.4(PKHD1):c.1355A>G (p.Tyr452Cys)
|
|
|
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=)
|
rs1393535530
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1431G>A (p.Trp477Ter)
|
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|
NM_138694.4(PKHD1):c.1437T>A (p.Asn479Lys)
|
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|
NM_138694.4(PKHD1):c.143G>T (p.Gly48Val)
|
rs557361225
|
|
NM_138694.4(PKHD1):c.1465G>A (p.Glu489Lys)
|
|
|
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup)
|
rs1554217514
|
|
NM_138694.4(PKHD1):c.1481G>A (p.Arg494Gln)
|
|
|
NM_138694.4(PKHD1):c.1556A>G (p.Asp519Gly)
|
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|
NM_138694.4(PKHD1):c.1579C>T (p.Pro527Ser)
|
|
|
NM_138694.4(PKHD1):c.1602+2T>C
|
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|
NM_138694.4(PKHD1):c.1602+6A>G
|
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|
NM_138694.4(PKHD1):c.1603-14_1603-13del
|
rs748577508
|
|
NM_138694.4(PKHD1):c.1603A>G (p.Ile535Val)
|
|
|
NM_138694.4(PKHD1):c.1609A>G (p.Thr537Ala)
|
|
|
NM_138694.4(PKHD1):c.1623G>C (p.Glu541Asp)
|
|
|
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs)
|
rs777295562
|
|
NM_138694.4(PKHD1):c.1639T>C (p.Cys547Arg)
|
rs1562248576
|
|
NM_138694.4(PKHD1):c.1658G>A (p.Trp553Ter)
|
|
|
NM_138694.4(PKHD1):c.1701A>C (p.Glu567Asp)
|
|
|
NM_138694.4(PKHD1):c.1702G>T (p.Val568Phe)
|
|
|
NM_138694.4(PKHD1):c.1717G>A (p.Gly573Arg)
|
|
|
NM_138694.4(PKHD1):c.1772C>T (p.Pro591Leu)
|
|
|
NM_138694.4(PKHD1):c.1804C>T (p.Gln602Ter)
|
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.1836+1G>T
|
|
|
NM_138694.4(PKHD1):c.1836C>T (p.His612=)
|
|
|
NM_138694.4(PKHD1):c.1854del (p.Gly619fs)
|
rs1807328785
|
|
NM_138694.4(PKHD1):c.1856del (p.Gly619fs)
|
rs1807328375
|
|
NM_138694.4(PKHD1):c.1862T>A (p.Met621Lys)
|
|
|
NM_138694.4(PKHD1):c.1883T>C (p.Ile628Thr)
|
|
|
NM_138694.4(PKHD1):c.1892dup (p.Thr632fs)
|
|
|
NM_138694.4(PKHD1):c.1895C>T (p.Thr632Ile)
|
|
|
NM_138694.4(PKHD1):c.1916T>C (p.Val639Ala)
|
|
|
NM_138694.4(PKHD1):c.1946C>T (p.Thr649Met)
|
|
|
NM_138694.4(PKHD1):c.1952C>A (p.Thr651Asn)
|
|
|
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg)
|
rs727504092
|
|
NM_138694.4(PKHD1):c.197A>G (p.Asn66Ser)
|
|
|
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter)
|
rs2128203862
|
|
NM_138694.4(PKHD1):c.2005C>T (p.Arg669Cys)
|
|
|
NM_138694.4(PKHD1):c.2014G>A (p.Gly672Arg)
|
|
|
NM_138694.4(PKHD1):c.2027C>A (p.Pro676His)
|
|
|
NM_138694.4(PKHD1):c.2035G>A (p.Ala679Thr)
|
|
|
NM_138694.4(PKHD1):c.2110_2111dup (p.Ile705fs)
|
|
|
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu)
|
rs144455663
|
|
NM_138694.4(PKHD1):c.2140G>A (p.Val714Ile)
|
|
|
NM_138694.4(PKHD1):c.2141-9G>A
|
|
|
NM_138694.4(PKHD1):c.2161_2163delinsCT (p.Thr721fs)
|
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.2212C>G (p.Pro738Ala)
|
|
|
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=)
|
rs373367366
|
|
NM_138694.4(PKHD1):c.2217G>T (p.Pro739=)
|
rs373367366
|
|
NM_138694.4(PKHD1):c.2230A>G (p.Thr744Ala)
|
|
|
NM_138694.4(PKHD1):c.2234C>T (p.Ser745Phe)
|
|
|
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter)
|
rs1806573538
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2279+1G>T
|
|
|
NM_138694.4(PKHD1):c.2287C>A (p.Pro763Thr)
|
|
|
NM_138694.4(PKHD1):c.2294A>G (p.Glu765Gly)
|
|
|
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs)
|
rs1064796287
|
|
NM_138694.4(PKHD1):c.2308G>A (p.Gly770Arg)
|
|
|
NM_138694.4(PKHD1):c.2318T>C (p.Leu773Pro)
|
|
|
NM_138694.4(PKHD1):c.2342G>A (p.Arg781Gln)
|
|
|
NM_138694.4(PKHD1):c.2356C>A (p.Pro786Thr)
|
|
|
NM_138694.4(PKHD1):c.2360C>A (p.Pro787His)
|
|
|
NM_138694.4(PKHD1):c.2446C>T (p.Leu816Phe)
|
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys)
|
rs781698219
|
|
NM_138694.4(PKHD1):c.2552_2553delinsAG (p.Ser851Ter)
|
|
|
NM_138694.4(PKHD1):c.2592+1G>A
|
|
|
NM_138694.4(PKHD1):c.2592+1G>C
|
rs758812102
|
|
NM_138694.4(PKHD1):c.2592+2T>C
|
|
|
NM_138694.4(PKHD1):c.260C>T (p.Pro87Leu)
|
|
|
NM_138694.4(PKHD1):c.264G>A (p.Val88=)
|
|
|
NM_138694.4(PKHD1):c.2715+1G>A
|
|
|
NM_138694.4(PKHD1):c.2722G>T (p.Val908Leu)
|
rs2128184282
|
|
NM_138694.4(PKHD1):c.274C>A (p.Arg92=)
|
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2772G>T (p.Gln924His)
|
|
|
NM_138694.4(PKHD1):c.2779dup (p.Gln927fs)
|
|
|
NM_138694.4(PKHD1):c.278C>A (p.Thr93Asn)
|
|
|
NM_138694.4(PKHD1):c.281+2T>G
|
|
|
NM_138694.4(PKHD1):c.2821+14C>G
|
|
|
NM_138694.4(PKHD1):c.2848A>G (p.Ile950Val)
|
|
|
NM_138694.4(PKHD1):c.2859del (p.Gly954fs)
|
|
|
NM_138694.4(PKHD1):c.2893A>G (p.Thr965Ala)
|
|
|
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)
|
rs536715802
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg)
|
rs794727447
|
|
NM_138694.4(PKHD1):c.3016A>G (p.Ile1006Val)
|
|
|
NM_138694.4(PKHD1):c.3026C>G (p.Thr1009Ser)
|
|
|
NM_138694.4(PKHD1):c.3043C>G (p.Leu1015Val)
|
rs1272367929
|
|
NM_138694.4(PKHD1):c.3069G>A (p.Met1023Ile)
|
|
|
NM_138694.4(PKHD1):c.3097+1G>A
|
|
|
NM_138694.4(PKHD1):c.3097G>T (p.Gly1033Ter)
|
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.3156_3157insATTGGATATTGGATAAGATATT (p.Gly1053fs)
|
|
|
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)
|
|
|
NM_138694.4(PKHD1):c.3164A>G (p.Tyr1055Cys)
|
|
|
NM_138694.4(PKHD1):c.3184G>A (p.Ala1062Thr)
|
|
|
NM_138694.4(PKHD1):c.319C>A (p.Leu107Met)
|
|
|
NM_138694.4(PKHD1):c.3217G>A (p.Val1073Ile)
|
|
|
NM_138694.4(PKHD1):c.3218T>C (p.Val1073Ala)
|
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3236A>G (p.Asp1079Gly)
|
|
|
NM_138694.4(PKHD1):c.3238G>A (p.Gly1080Arg)
|
|
|
NM_138694.4(PKHD1):c.3313T>C (p.Ser1105Pro)
|
|
|
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs)
|
rs1057516922
|
|
NM_138694.4(PKHD1):c.3374C>A (p.Thr1125Asn)
|
|
|
NM_138694.4(PKHD1):c.3377T>C (p.Leu1126Pro)
|
|
|
NM_138694.4(PKHD1):c.3443C>G (p.Ala1148Gly)
|
|
|
NM_138694.4(PKHD1):c.3453G>A (p.Pro1151=)
|
|
|
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter)
|
rs886061619
|
|
NM_138694.4(PKHD1):c.3508_3510dup (p.Gly1170_Leu1171insGly)
|
|
|
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs)
|
rs2128152615
|
|
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
|
|
|
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter)
|
|
|
NM_138694.4(PKHD1):c.3631G>A (p.Gly1211Arg)
|
|
|
NM_138694.4(PKHD1):c.3644G>A (p.Ser1215Asn)
|
|
|
NM_138694.4(PKHD1):c.3655A>G (p.Ile1219Val)
|
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3700A>G (p.Asn1234Asp)
|
|
|
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser)
|
rs1802145665
|
|
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu)
|
rs140815495
|
|
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs)
|
rs2128146668
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.3765_3766del (p.Gln1256fs)
|
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3769A>G (p.Ile1257Val)
|
|
|
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs)
|
|
|
NM_138694.4(PKHD1):c.3772C>T (p.Pro1258Ser)
|
|
|
NM_138694.4(PKHD1):c.3784G>C (p.Ala1262Pro)
|
|
|
NM_138694.4(PKHD1):c.3788C>T (p.Pro1263Leu)
|
|
|
NM_138694.4(PKHD1):c.379T>G (p.Cys127Gly)
|
|
|
NM_138694.4(PKHD1):c.3805G>A (p.Val1269Met)
|
|
|
NM_138694.4(PKHD1):c.3817G>A (p.Ala1273Thr)
|
|
|
NM_138694.4(PKHD1):c.3858G>C (p.Leu1286Phe)
|
|
|
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
|
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.3952C>A (p.His1318Asn)
|
|
|
NM_138694.4(PKHD1):c.395C>T (p.Ser132Phe)
|
|
|
NM_138694.4(PKHD1):c.3995G>A (p.Gly1332Glu)
|
|
|
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)
|
rs1802073525
|
|
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs)
|
|
|
NM_138694.4(PKHD1):c.4045del (p.Leu1349fs)
|
|
|
NM_138694.4(PKHD1):c.4065del (p.Leu1356fs)
|
|
|
NM_138694.4(PKHD1):c.4066C>T (p.Leu1356Phe)
|
|
|
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
|
|
|
NM_138694.4(PKHD1):c.4106G>A (p.Arg1369His)
|
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.412A>G (p.Ile138Val)
|
|
|
NM_138694.4(PKHD1):c.4139T>C (p.Val1380Ala)
|
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=)
|
rs756553815
|
|
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
|
rs1464962854
|
|
NM_138694.4(PKHD1):c.4257G>T (p.Arg1419Ser)
|
|
|
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe)
|
rs565836750
|
|
NM_138694.4(PKHD1):c.4277C>G (p.Ser1426Trp)
|
|
|
NM_138694.4(PKHD1):c.4297A>G (p.Ile1433Val)
|
|
|
NM_138694.4(PKHD1):c.4411G>T (p.Glu1471Ter)
|
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)
|
rs1554198717
|
|
NM_138694.4(PKHD1):c.4424A>C (p.Asn1475Thr)
|
|
|
NM_138694.4(PKHD1):c.4430C>T (p.Thr1477Ile)
|
|
|
NM_138694.4(PKHD1):c.4436T>C (p.Phe1479Ser)
|
|
|
NM_138694.4(PKHD1):c.4450del (p.Ala1484fs)
|
|
|
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)
|
rs370608473
|
|
NM_138694.4(PKHD1):c.4459G>A (p.Val1487Ile)
|
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
|
rs1581806935
|
|
NM_138694.4(PKHD1):c.4504G>C (p.Val1502Leu)
|
|
|
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu)
|
rs1581806804
|
|
NM_138694.4(PKHD1):c.4512del (p.Arg1505fs)
|
|
|
NM_138694.4(PKHD1):c.4537_4554del (p.Ala1513_Val1518del)
|
|
|
NM_138694.4(PKHD1):c.4583dup (p.Thr1529fs)
|
|
|
NM_138694.4(PKHD1):c.4589T>C (p.Phe1530Ser)
|
|
|
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)
|
rs1057516263
|
|
NM_138694.4(PKHD1):c.463G>T (p.Val155Leu)
|
|
|
NM_138694.4(PKHD1):c.4697C>T (p.Ser1566Phe)
|
|
|
NM_138694.4(PKHD1):c.4716G>A (p.Met1572Ile)
|
|
|
NM_138694.4(PKHD1):c.4741A>G (p.Lys1581Glu)
|
|
|
NM_138694.4(PKHD1):c.4816del (p.Val1606fs)
|
rs2128142490
|
|
NM_138694.4(PKHD1):c.4859C>A (p.Ala1620Asp)
|
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile)
|
rs932913425
|
|
NM_138694.4(PKHD1):c.4903G>A (p.Ala1635Thr)
|
|
|
NM_138694.4(PKHD1):c.491T>G (p.Leu164Trp)
|
|
|
NM_138694.4(PKHD1):c.4932_4933delinsTC (p.Trp1644_Tyr1645delinsCysHis)
|
|
|
NM_138694.4(PKHD1):c.4999G>A (p.Asp1667Asn)
|
|
|
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val)
|
rs749029593
|
|
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)
|
rs1801882752
|
|
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp)
|
rs752432638
|
|
NM_138694.4(PKHD1):c.50C>T (p.Ala17Val)
|
|
|
NM_138694.4(PKHD1):c.5101G>A (p.Val1701Ile)
|
|
|
NM_138694.4(PKHD1):c.5110T>C (p.Cys1704Arg)
|
|
|
NM_138694.4(PKHD1):c.5117T>A (p.Val1706Asp)
|
|
|
NM_138694.4(PKHD1):c.5120C>T (p.Pro1707Leu)
|
|
|
NM_138694.4(PKHD1):c.5123C>T (p.Ser1708Phe)
|
|
|
NM_138694.4(PKHD1):c.512C>A (p.Ala171Asp)
|
|
|
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
|
|
|
NM_138694.4(PKHD1):c.5212A>G (p.Ile1738Val)
|
|
|
NM_138694.4(PKHD1):c.5228A>G (p.Glu1743Gly)
|
|
|
NM_138694.4(PKHD1):c.5236+2del
|
|
|
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser)
|
|
|
NM_138694.4(PKHD1):c.5239T>C (p.Cys1747Arg)
|
|
|
NM_138694.4(PKHD1):c.5257_5259del (p.Val1753del)
|
|
|
NM_138694.4(PKHD1):c.528-1G>T
|
|
|
NM_138694.4(PKHD1):c.528-2A>G
|
|
|
NM_138694.4(PKHD1):c.528-9del
|
rs753686281
|
|
NM_138694.4(PKHD1):c.5299G>A (p.Ala1767Thr)
|
|
|
NM_138694.4(PKHD1):c.5336A>T (p.Asn1779Ile)
|
|
|
NM_138694.4(PKHD1):c.5359T>C (p.Cys1787Arg)
|
|
|
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu)
|
rs1288521396
|
|
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=)
|
rs758616921
|
|
NM_138694.4(PKHD1):c.5402G>T (p.Gly1801Val)
|
|
|
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys)
|
rs201906247
|
|
NM_138694.4(PKHD1):c.5414A>T (p.Glu1805Val)
|
|
|
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter)
|
|
|
NM_138694.4(PKHD1):c.5444_5445del (p.Thr1815fs)
|
|
|
NM_138694.4(PKHD1):c.5450T>G (p.Val1817Gly)
|
|
|
NM_138694.4(PKHD1):c.5456G>A (p.Cys1819Tyr)
|
|
|
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter)
|
rs2128231908
|
|
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser)
|
rs1562140504
|
|
NM_138694.4(PKHD1):c.5506del (p.Tyr1836fs)
|
|
|
NM_138694.4(PKHD1):c.5539C>T (p.Leu1847Phe)
|
|
|
NM_138694.4(PKHD1):c.5598C>G (p.Ile1866Met)
|
|
|
NM_138694.4(PKHD1):c.5601-6T>C
|
|
|
NM_138694.4(PKHD1):c.5603C>G (p.Pro1868Arg)
|
|
|
NM_138694.4(PKHD1):c.564dup (p.Thr189fs)
|
|
|
NM_138694.4(PKHD1):c.5665G>A (p.Glu1889Lys)
|
|
|
NM_138694.4(PKHD1):c.5666A>G (p.Glu1889Gly)
|
|
|
NM_138694.4(PKHD1):c.5681G>A (p.Cys1894Tyr)
|
|
|
NM_138694.4(PKHD1):c.5707G>A (p.Val1903Ile)
|
|
|
NM_138694.4(PKHD1):c.5716A>G (p.Thr1906Ala)
|
|
|
NM_138694.4(PKHD1):c.5751+1G>A
|
rs775638588
|
|
NM_138694.4(PKHD1):c.5751+3A>G
|
rs1581726525
|
|
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=)
|
rs398124489
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
NM_138694.4(PKHD1):c.5761del (p.Ser1921fs)
|
|
|
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp)
|
rs543037335
|
|
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe)
|
rs1791759592
|
|
NM_138694.4(PKHD1):c.5792C>T (p.Thr1931Ile)
|
|
|
NM_138694.4(PKHD1):c.581T>C (p.Ile194Thr)
|
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5832C>A (p.Asp1944Glu)
|
|
|
NM_138694.4(PKHD1):c.5839A>G (p.Thr1947Ala)
|
|
|
NM_138694.4(PKHD1):c.5854C>T (p.Gln1952Ter)
|
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.5882G>C (p.Ser1961Thr)
|
|
|
NM_138694.4(PKHD1):c.5902A>G (p.Ile1968Val)
|
|
|
NM_138694.4(PKHD1):c.5909G>C (p.Gly1970Ala)
|
|
|
NM_138694.4(PKHD1):c.5927T>C (p.Met1976Thr)
|
|
|
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.5941A>G (p.Ile1981Val)
|
rs1233590429
|
|
NM_138694.4(PKHD1):c.595G>T (p.Gly199Ter)
|
|
|
NM_138694.4(PKHD1):c.5980G>A (p.Gly1994Arg)
|
|
|
NM_138694.4(PKHD1):c.599G>A (p.Ser200Asn)
|
|
|
NM_138694.4(PKHD1):c.603-16T>A
|
|
|
NM_138694.4(PKHD1):c.6030G>T (p.Gln2010His)
|
|
|
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs)
|
rs2127768101
|
|
NM_138694.4(PKHD1):c.6111_6112del (p.Leu2039fs)
|
|
|
NM_138694.4(PKHD1):c.6121+1G>A
|
|
|
NM_138694.4(PKHD1):c.6131C>T (p.Pro2044Leu)
|
|
|
NM_138694.4(PKHD1):c.6170C>A (p.Ala2057Asp)
|
|
|
NM_138694.4(PKHD1):c.6209G>A (p.Trp2070Ter)
|
|
|
NM_138694.4(PKHD1):c.6287_6288del (p.Val2096fs)
|
|
|
NM_138694.4(PKHD1):c.6317T>G (p.Leu2106Arg)
|
|
|
NM_138694.4(PKHD1):c.6333-13dup
|
rs138161138
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
NM_138694.4(PKHD1):c.6351del (p.Glu2118fs)
|
|
|
NM_138694.4(PKHD1):c.6362T>C (p.Val2121Ala)
|
|
|
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs)
|
|
|
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter)
|
rs1783006864
|
|
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)
|
rs1405067373
|
|
NM_138694.4(PKHD1):c.6408C>A (p.Ser2136Arg)
|
|
|
NM_138694.4(PKHD1):c.6424C>G (p.Gln2142Glu)
|
|
|
NM_138694.4(PKHD1):c.6434T>G (p.Leu2145Arg)
|
|
|
NM_138694.4(PKHD1):c.6490+3A>G
|
|
|
NM_138694.4(PKHD1):c.6490G>A (p.Gly2164Ser)
|
rs147595459
|
|
NM_138694.4(PKHD1):c.6493A>G (p.Asn2165Asp)
|
|
|
NM_138694.4(PKHD1):c.6501G>C (p.Gln2167His)
|
|
|
NM_138694.4(PKHD1):c.6571T>A (p.Ser2191Thr)
|
|
|
NM_138694.4(PKHD1):c.6577C>T (p.Pro2193Ser)
|
|
|
NM_138694.4(PKHD1):c.6631C>T (p.Gln2211Ter)
|
|
|
NM_138694.4(PKHD1):c.6635C>G (p.Ala2212Gly)
|
|
|
NM_138694.4(PKHD1):c.6647A>G (p.His2216Arg)
|
|
|
NM_138694.4(PKHD1):c.666C>G (p.Ile222Met)
|
|
|
NM_138694.4(PKHD1):c.6684G>A (p.Glu2228=)
|
|
|
NM_138694.4(PKHD1):c.673C>G (p.Gln225Glu)
|
|
|
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=)
|
rs900150542
|
|
NM_138694.4(PKHD1):c.6763G>A (p.Asp2255Asn)
|
|
|
NM_138694.4(PKHD1):c.6769A>G (p.Asn2257Asp)
|
|
|
NM_138694.4(PKHD1):c.6808+5G>C
|
rs398124490
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.685T>C (p.Phe229Leu)
|
|
|
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA
|
rs1562581286
|
|
NM_138694.4(PKHD1):c.6866-4_6866-2del
|
rs748114217
|
|
NM_138694.4(PKHD1):c.689C>T (p.Ser230Leu)
|
|
|
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)
|
rs373795139
|
|
NM_138694.4(PKHD1):c.6947T>C (p.Met2316Thr)
|
|
|
NM_138694.4(PKHD1):c.6977G>A (p.Ser2326Asn)
|
|
|
NM_138694.4(PKHD1):c.6986A>G (p.Asn2329Ser)
|
|
|
NM_138694.4(PKHD1):c.6988G>T (p.Val2330Phe)
|
|
|
NM_138694.4(PKHD1):c.6996+4A>T
|
|
|
NM_138694.4(PKHD1):c.707+5G>A
|
|
|
NM_138694.4(PKHD1):c.7079T>G (p.Phe2360Cys)
|
|
|
NM_138694.4(PKHD1):c.7088del (p.Asn2363fs)
|
|
|
NM_138694.4(PKHD1):c.7110-1G>T
|
|
|
NM_138694.4(PKHD1):c.7123G>C (p.Val2375Leu)
|
|
|
NM_138694.4(PKHD1):c.7149G>T (p.Trp2383Cys)
|
|
|
NM_138694.4(PKHD1):c.7166C>T (p.Thr2389Ile)
|
|
|
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs)
|
|
|
NM_138694.4(PKHD1):c.7201G>C (p.Ala2401Pro)
|
|
|
NM_138694.4(PKHD1):c.7243A>C (p.Lys2415Gln)
|
|
|
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7283A>G (p.Asp2428Gly)
|
|
|
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val)
|
rs753450358
|
|
NM_138694.4(PKHD1):c.7328T>G (p.Leu2443Ter)
|
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter)
|
rs1231660958
|
|
NM_138694.4(PKHD1):c.7418C>T (p.Thr2473Ile)
|
|
|
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter)
|
rs2151777194
|
|
NM_138694.4(PKHD1):c.7489G>A (p.Gly2497Arg)
|
|
|
NM_138694.4(PKHD1):c.7489G>T (p.Gly2497Ter)
|
|
|
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter)
|
rs769645972
|
|
NM_138694.4(PKHD1):c.7541T>A (p.Val2514Glu)
|
|
|
NM_138694.4(PKHD1):c.7543G>A (p.Ala2515Thr)
|
|
|
NM_138694.4(PKHD1):c.7548dup (p.Pro2517fs)
|
|
|
NM_138694.4(PKHD1):c.7565C>T (p.Ala2522Val)
|
|
|
NM_138694.4(PKHD1):c.7602A>G (p.Lys2534=)
|
|
|
NM_138694.4(PKHD1):c.7605C>G (p.Asn2535Lys)
|
|
|
NM_138694.4(PKHD1):c.7672C>T (p.Arg2558Trp)
|
|
|
NM_138694.4(PKHD1):c.7673G>C (p.Arg2558Pro)
|
|
|
NM_138694.4(PKHD1):c.7675G>T (p.Val2559Phe)
|
|
|
NM_138694.4(PKHD1):c.7691C>T (p.Ala2564Val)
|
|
|
NM_138694.4(PKHD1):c.7694G>C (p.Cys2565Ser)
|
rs1336917781
|
|
NM_138694.4(PKHD1):c.76G>T (p.Glu26Ter)
|
|
|
NM_138694.4(PKHD1):c.7702G>A (p.Gly2568Ser)
|
|
|
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs)
|
rs797044745
|
|
NM_138694.4(PKHD1):c.7730G>A (p.Gly2577Asp)
|
|
|
NM_138694.4(PKHD1):c.7734-27_7734-26dup
|
rs201176305
|
|
NM_138694.4(PKHD1):c.7745del (p.Pro2582fs)
|
|
|
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile)
|
rs748895723
|
|
NM_138694.4(PKHD1):c.7757_7761del (p.Tyr2586fs)
|
|
|
NM_138694.4(PKHD1):c.7762T>G (p.Leu2588Val)
|
|
|
NM_138694.4(PKHD1):c.778+1G>C
|
rs753471298
|
|
NM_138694.4(PKHD1):c.778+3A>G
|
|
|
NM_138694.4(PKHD1):c.7811G>A (p.Arg2604His)
|
|
|
NM_138694.4(PKHD1):c.7823C>A (p.Ser2608Tyr)
|
|
|
NM_138694.4(PKHD1):c.7831C>T (p.Arg2611Cys)
|
|
|
NM_138694.4(PKHD1):c.7867del (p.Tyr2623fs)
|
|
|
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs)
|
rs1045491786
|
|
NM_138694.4(PKHD1):c.7909C>G (p.Gln2637Glu)
|
|
|
NM_138694.4(PKHD1):c.7911+2T>C
|
|
|
NM_138694.4(PKHD1):c.7982A>C (p.Tyr2661Ser)
|
|
|
NM_138694.4(PKHD1):c.7993C>T (p.Leu2665Phe)
|
|
|
NM_138694.4(PKHD1):c.800_802delinsTAC (p.Glu267_Thr268delinsValPro)
|
|
|
NM_138694.4(PKHD1):c.8071T>G (p.Phe2691Val)
|
|
|
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)
|
rs754448530
|
|
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)
|
rs774050795
|
|
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)
|
rs1769233531
|
|
NM_138694.4(PKHD1):c.8157G>T (p.Met2719Ile)
|
|
|
NM_138694.4(PKHD1):c.8159C>T (p.Pro2720Leu)
|
|
|
NM_138694.4(PKHD1):c.8188C>G (p.Pro2730Ala)
|
|
|
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter)
|
rs2151512054
|
|
NM_138694.4(PKHD1):c.8224T>C (p.Trp2742Arg)
|
|
|
NM_138694.4(PKHD1):c.8227C>G (p.Gln2743Glu)
|
|
|
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
|
rs794727756
|
|
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala)
|
rs1562410143
|
|
NM_138694.4(PKHD1):c.8248G>A (p.Gly2750Arg)
|
|
|
NM_138694.4(PKHD1):c.8267T>C (p.Ile2756Thr)
|
|
|
NM_138694.4(PKHD1):c.8286C>G (p.Asp2762Glu)
|
|
|
NM_138694.4(PKHD1):c.8287G>A (p.Val2763Ile)
|
|
|
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser)
|
rs764600547
|
|
NM_138694.4(PKHD1):c.8302+2T>C
|
rs2151510946
|
|
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys)
|
rs1793710520
|
|
NM_138694.4(PKHD1):c.8396T>A (p.Leu2799Gln)
|
|
|
NM_138694.4(PKHD1):c.8409C>T (p.Cys2803=)
|
|
|
NM_138694.4(PKHD1):c.8420C>T (p.Ala2807Val)
|
|
|
NM_138694.4(PKHD1):c.8455C>T (p.Pro2819Ser)
|
rs886043763
|
|
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)
|
rs375145340
|
|
NM_138694.4(PKHD1):c.8494_8496delinsA (p.Ala2832fs)
|
|
|
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly)
|
rs200432861
|
|
NM_138694.4(PKHD1):c.8546G>C (p.Gly2849Ala)
|
|
|
NM_138694.4(PKHD1):c.8566A>G (p.Lys2856Glu)
|
|
|
NM_138694.4(PKHD1):c.8621A>T (p.Asp2874Val)
|
rs1582601370
|
|
NM_138694.4(PKHD1):c.8624T>C (p.Ile2875Thr)
|
|
|
NM_138694.4(PKHD1):c.8642+19T>G
|
|
|
NM_138694.4(PKHD1):c.8654A>C (p.Glu2885Ala)
|
|
|
NM_138694.4(PKHD1):c.8670G>A (p.Trp2890Ter)
|
|
|
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=)
|
rs116098879
|
|
NM_138694.4(PKHD1):c.8677del (p.His2893fs)
|
|
|
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu)
|
rs1786704837
|
|
NM_138694.4(PKHD1):c.8695A>C (p.Ser2899Arg)
|
|
|
NM_138694.4(PKHD1):c.8752_8761del (p.Lys2917_Gly2918insTer)
|
|
|
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)
|
rs749768205
|
|
NM_138694.4(PKHD1):c.8766del (p.Ile2923fs)
|
|
|
NM_138694.4(PKHD1):c.8797+1G>T
|
|
|
NM_138694.4(PKHD1):c.8797+20G>T
|
rs766264473
|
|
NM_138694.4(PKHD1):c.8798-15C>A
|
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)
|
rs1582469785
|
|
NM_138694.4(PKHD1):c.8843C>T (p.Ala2948Val)
|
|
|
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
|
|
|
NM_138694.4(PKHD1):c.8882C>T (p.Pro2961Leu)
|
|
|
NM_138694.4(PKHD1):c.8923A>T (p.Arg2975Trp)
|
|
|
NM_138694.4(PKHD1):c.8950+1G>T
|
rs1351918391
|
|
NM_138694.4(PKHD1):c.8951G>A (p.Gly2984Asp)
|
|
|
NM_138694.4(PKHD1):c.8971G>A (p.Val2991Met)
|
|
|
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
|
rs1582053820
|
|
NM_138694.4(PKHD1):c.8998T>G (p.Leu3000Val)
|
|
|
NM_138694.4(PKHD1):c.9079G>A (p.Gly3027Ser)
|
|
|
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp)
|
rs1444969670
|
|
NM_138694.4(PKHD1):c.9170C>T (p.Ala3057Val)
|
|
|
NM_138694.4(PKHD1):c.9196G>A (p.Val3066Ile)
|
|
|
NM_138694.4(PKHD1):c.9226A>C (p.Ile3076Leu)
|
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9365T>C (p.Val3122Ala)
|
|
|
NM_138694.4(PKHD1):c.937del (p.Ala313fs)
|
|
|
NM_138694.4(PKHD1):c.9445G>A (p.Ala3149Thr)
|
|
|
NM_138694.4(PKHD1):c.9479A>T (p.His3160Leu)
|
|
|
NM_138694.4(PKHD1):c.9485A>G (p.Glu3162Gly)
|
|
|
NM_138694.4(PKHD1):c.9533G>A (p.Gly3178Asp)
|
|
|
NM_138694.4(PKHD1):c.9533G>T (p.Gly3178Val)
|
|
|
NM_138694.4(PKHD1):c.9539del (p.Leu3180fs)
|
|
|
NM_138694.4(PKHD1):c.954del (p.Arg319fs)
|
rs1809305398
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter)
|
rs2150982651
|
|
NM_138694.4(PKHD1):c.9602G>A (p.Arg3201Lys)
|
|
|
NM_138694.4(PKHD1):c.9667T>C (p.Ser3223Pro)
|
|
|
NM_138694.4(PKHD1):c.9668C>T (p.Ser3223Leu)
|
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)
|
rs1562221540
|
|
NM_138694.4(PKHD1):c.976+2T>A
|
|
|
NM_138694.4(PKHD1):c.977-2A>G
|
|
|
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)
|
|
|
NM_138694.4(PKHD1):c.9830-10A>G
|
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
NM_138694.4(PKHD1):c.9856A>G (p.Ser3286Gly)
|
|
|
NM_138694.4(PKHD1):c.9866G>A (p.Ser3289Asn)
|
|
|
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn)
|
rs370659581
|
|
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn)
|
rs1060501356
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)
|
rs1307732644
|
|
NM_173543.3(DZIP1L):c.1289-6C>G
|
|
|
NM_173543.3(DZIP1L):c.1681G>A (p.Ala561Thr)
|
|
|
NM_178170.3(NEK8):c.1024A>G (p.Thr342Ala)
|
|
|
NM_178170.3(NEK8):c.1068G>A (p.Trp356Ter)
|
|
|
NM_178170.3(NEK8):c.106C>G (p.Pro36Ala)
|
|
|
NM_178170.3(NEK8):c.1071G>A (p.Glu357=)
|
|
|
NM_178170.3(NEK8):c.1114G>T (p.Ala372Ser)
|
|
|
NM_178170.3(NEK8):c.1147C>T (p.Arg383Cys)
|
|
|
NM_178170.3(NEK8):c.1224_1227del
|
|
|
NM_178170.3(NEK8):c.1232T>G (p.Ile411Ser)
|
|
|
NM_178170.3(NEK8):c.1251C>G (p.Ser417Arg)
|
|
|
NM_178170.3(NEK8):c.1271G>C (p.Gly424Ala)
|
|
|
NM_178170.3(NEK8):c.1280G>A (p.Ser427Asn)
|
|
|
NM_178170.3(NEK8):c.1316C>T (p.Ala439Val)
|
|
|
NM_178170.3(NEK8):c.131A>T (p.Glu44Val)
|
|
|
NM_178170.3(NEK8):c.1363G>A (p.Val455Met)
|
|
|
NM_178170.3(NEK8):c.1363G>C (p.Val455Leu)
|
|
|
NM_178170.3(NEK8):c.1373T>G (p.Leu458Arg)
|
|
|
NM_178170.3(NEK8):c.1384C>T (p.Arg462Ter)
|
rs770284675
|
|
NM_178170.3(NEK8):c.1385G>A (p.Arg462Gln)
|
|
|
NM_178170.3(NEK8):c.1405C>T (p.Arg469Cys)
|
|
|
NM_178170.3(NEK8):c.1417G>A (p.Gly473Ser)
|
|
|
NM_178170.3(NEK8):c.1481G>C (p.Gly494Ala)
|
|
|
NM_178170.3(NEK8):c.1495C>T (p.Arg499Ter)
|
|
|
NM_178170.3(NEK8):c.1496G>T (p.Arg499Leu)
|
|
|
NM_178170.3(NEK8):c.1598C>T (p.Ser533Phe)
|
|
|
NM_178170.3(NEK8):c.1676A>C (p.Asp559Ala)
|
|
|
NM_178170.3(NEK8):c.1688T>C (p.Leu563Pro)
|
|
|
NM_178170.3(NEK8):c.1737G>A (p.Ser579=)
|
|
|
NM_178170.3(NEK8):c.1796G>A (p.Arg599Gln)
|
|
|
NM_178170.3(NEK8):c.1805G>A (p.Arg602Gln)
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NM_178170.3(NEK8):c.181C>G (p.Pro61Ala)
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NM_178170.3(NEK8):c.1823A>G (p.Gln608Arg)
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NM_178170.3(NEK8):c.1853T>C (p.Val618Ala)
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NM_178170.3(NEK8):c.1882A>C (p.Ile628Leu)
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NM_178170.3(NEK8):c.1888G>A (p.Ala630Thr)
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NM_178170.3(NEK8):c.1910G>A (p.Trp637Ter)
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NM_178170.3(NEK8):c.1916A>C (p.Lys639Thr)
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NM_178170.3(NEK8):c.1919G>C (p.Gly640Ala)
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NM_178170.3(NEK8):c.1922C>G (p.Ala641Gly)
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NM_178170.3(NEK8):c.1958G>A (p.Gly653Glu)
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NM_178170.3(NEK8):c.1966C>G (p.Arg656Gly)
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NM_178170.3(NEK8):c.2018G>C (p.Cys673Ser)
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NM_178170.3(NEK8):c.202G>A (p.Glu68Lys)
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NM_178170.3(NEK8):c.2050+1G>A
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NM_178170.3(NEK8):c.2068G>T (p.Val690Phe)
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NM_178170.3(NEK8):c.2071C>T (p.Pro691Ser)
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NM_178170.3(NEK8):c.2074C>A (p.Pro692Thr)
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NM_178170.3(NEK8):c.2075C>A (p.Pro692His)
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NM_178170.3(NEK8):c.2076_2077del (p.Ter693ArgextTer?)
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NM_178170.3(NEK8):c.241G>A (p.Glu81Lys)
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NM_178170.3(NEK8):c.253+4G>A
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NM_178170.3(NEK8):c.253+5G>A
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NM_178170.3(NEK8):c.254-8G>A
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NM_178170.3(NEK8):c.274A>T (p.Ile92Phe)
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NM_178170.3(NEK8):c.280A>C (p.Lys94Gln)
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NM_178170.3(NEK8):c.300G>A (p.Leu100=)
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NM_178170.3(NEK8):c.307G>A (p.Glu103Lys)
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NM_178170.3(NEK8):c.368T>A (p.Leu123His)
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NM_178170.3(NEK8):c.406C>T (p.Leu136Phe)
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NM_178170.3(NEK8):c.418C>T (p.Arg140Cys)
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NM_178170.3(NEK8):c.427G>A (p.Val143Ile)
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NM_178170.3(NEK8):c.467G>A (p.Ser156Asn)
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NM_178170.3(NEK8):c.508A>T (p.Ile170Phe)
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NM_178170.3(NEK8):c.514C>A (p.Pro172Thr)
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NM_178170.3(NEK8):c.618_618+7dup
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NM_178170.3(NEK8):c.667A>G (p.Ile223Val)
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NM_178170.3(NEK8):c.675C>A (p.Asp225Glu)
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NM_178170.3(NEK8):c.695G>A (p.Arg232His)
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NM_178170.3(NEK8):c.724G>C (p.Glu242Gln)
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NM_178170.3(NEK8):c.763C>T (p.Gln255Ter)
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NM_178170.3(NEK8):c.767C>G (p.Pro256Arg)
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NM_178170.3(NEK8):c.778C>T (p.Arg260Cys)
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NM_178170.3(NEK8):c.779G>A (p.Arg260His)
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NM_178170.3(NEK8):c.793C>G (p.Leu265Val)
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NM_178170.3(NEK8):c.809G>A (p.Gly270Asp)
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NM_178170.3(NEK8):c.817C>T (p.Arg273Cys)
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NM_178170.3(NEK8):c.841G>A (p.Val281Met)
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NM_178170.3(NEK8):c.852C>A (p.Ser284Arg)
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NM_178170.3(NEK8):c.889+7G>A
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NM_178170.3(NEK8):c.88G>A (p.Val30Met)
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NM_178170.3(NEK8):c.91A>G (p.Ile31Val)
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NM_178170.3(NEK8):c.953G>A (p.Gly318Asp)
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NM_178170.3(NEK8):c.968C>T (p.Thr323Ile)
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NM_178170.3(NEK8):c.988C>T (p.Leu330Phe)
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NM_178170.3(NEK8):c.995_996del (p.Thr332fs)
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NM_198334.3(GANAB):c.-4C>G
|
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NM_198334.3(GANAB):c.1085T>C (p.Ile362Thr)
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NM_198334.3(GANAB):c.1129C>T (p.Arg377Trp)
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NM_198334.3(GANAB):c.1142G>C (p.Ser381Thr)
|
rs1043983959
|
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NM_198334.3(GANAB):c.124G>C (p.Glu42Gln)
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NM_198334.3(GANAB):c.1260C>A (p.Asn420Lys)
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NM_198334.3(GANAB):c.1287C>G (p.Asp429Glu)
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NM_198334.3(GANAB):c.1303G>A (p.Gly435Ser)
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NM_198334.3(GANAB):c.131G>T (p.Ser44Ile)
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NM_198334.3(GANAB):c.1333C>T (p.Arg445Cys)
|
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|
NM_198334.3(GANAB):c.1349G>A (p.Arg450His)
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|
NM_198334.3(GANAB):c.1364G>A (p.Arg455His)
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NM_198334.3(GANAB):c.1364_1370del (p.Arg455fs)
|
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|
NM_198334.3(GANAB):c.1387-16_1387-3dup
|
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NM_198334.3(GANAB):c.1387-3C>G
|
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NM_198334.3(GANAB):c.1411A>G (p.Ile471Val)
|
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NM_198334.3(GANAB):c.143A>G (p.Lys48Arg)
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|
NM_198334.3(GANAB):c.1441G>A (p.Glu481Lys)
|
|
|
NM_198334.3(GANAB):c.1455C>G (p.Asn485Lys)
|
|
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NM_198334.3(GANAB):c.1468G>A (p.Val490Ile)
|
|
|
NM_198334.3(GANAB):c.1475C>G (p.Thr492Ser)
|
|
|
NM_198334.3(GANAB):c.1478G>A (p.Arg493Gln)
|
|
|
NM_198334.3(GANAB):c.1481A>G (p.Asp494Gly)
|
|
|
NM_198334.3(GANAB):c.152_153del (p.Arg51fs)
|
rs752158933
|
|
NM_198334.3(GANAB):c.1561_1565delinsGGGG (p.Trp521fs)
|
|
|
NM_198334.3(GANAB):c.161G>A (p.Arg54Gln)
|
|
|
NM_198334.3(GANAB):c.1666A>G (p.Met556Val)
|
|
|
NM_198334.3(GANAB):c.1669C>T (p.Leu557Phe)
|
|
|
NM_198334.3(GANAB):c.1697G>T (p.Trp566Leu)
|
|
|
NM_198334.3(GANAB):c.169C>T (p.Leu57Phe)
|
|
|
NM_198334.3(GANAB):c.1711G>A (p.Val571Met)
|
|
|
NM_198334.3(GANAB):c.1738-15TC[2]
|
|
|
NM_198334.3(GANAB):c.1738-1G>A
|
|
|
NM_198334.3(GANAB):c.1769G>A (p.Arg590His)
|
|
|
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)
|
rs879255641
|
|
NM_198334.3(GANAB):c.1854C>A (p.Asp618Glu)
|
|
|
NM_198334.3(GANAB):c.1864G>A (p.Glu622Lys)
|
|
|
NM_198334.3(GANAB):c.1933G>A (p.Gly645Arg)
|
|
|
NM_198334.3(GANAB):c.1934G>A (p.Gly645Glu)
|
|
|
NM_198334.3(GANAB):c.1937C>T (p.Ala646Val)
|
|
|
NM_198334.3(GANAB):c.1944G>A (p.Val648=)
|
|
|
NM_198334.3(GANAB):c.1983G>A (p.Val661=)
|
|
|
NM_198334.3(GANAB):c.1998G>C (p.Met666Ile)
|
rs767196703
|
|
NM_198334.3(GANAB):c.199C>A (p.Leu67Ile)
|
|
|
NM_198334.3(GANAB):c.2021G>A (p.Arg674Gln)
|
rs2134469442
|
|
NM_198334.3(GANAB):c.2068C>G (p.Pro690Ala)
|
|
|
NM_198334.3(GANAB):c.2072C>G (p.Ser691Cys)
|
|
|
NM_198334.3(GANAB):c.2072C>T (p.Ser691Phe)
|
|
|
NM_198334.3(GANAB):c.2081A>G (p.Asn694Ser)
|
|
|
NM_198334.3(GANAB):c.2092C>T (p.Arg698Ter)
|
|
|
NM_198334.3(GANAB):c.2117C>T (p.Ser706Phe)
|
|
|
NM_198334.3(GANAB):c.2166C>T (p.Gly722=)
|
|
|
NM_198334.3(GANAB):c.2181-5C>T
|
|
|
NM_198334.3(GANAB):c.2213C>A (p.Thr738Asn)
|
|
|
NM_198334.3(GANAB):c.2222A>G (p.Asn741Ser)
|
|
|
NM_198334.3(GANAB):c.2226A>G (p.Ile742Met)
|
|
|
NM_198334.3(GANAB):c.2303A>G (p.Tyr768Cys)
|
|
|
NM_198334.3(GANAB):c.2330_2331delinsG (p.Tyr777fs)
|
|
|
NM_198334.3(GANAB):c.2336_2339del (p.Ile779fs)
|
|
|
NM_198334.3(GANAB):c.2387C>T (p.Thr796Ile)
|
|
|
NM_198334.3(GANAB):c.23C>T (p.Ala8Val)
|
|
|
NM_198334.3(GANAB):c.2412G>C (p.Gln804His)
|
|
|
NM_198334.3(GANAB):c.243G>T (p.Glu81Asp)
|
|
|
NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter)
|
rs1565088616
|
|
NM_198334.3(GANAB):c.2446G>T (p.Val816Leu)
|
|
|
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)
|
rs879255643
|
|
NM_198334.3(GANAB):c.2492T>C (p.Phe831Ser)
|
|
|
NM_198334.3(GANAB):c.2496_2502del (p.Ser835fs)
|
|
|
NM_198334.3(GANAB):c.2530C>T (p.Leu844Phe)
|
|
|
NM_198334.3(GANAB):c.2549A>G (p.His850Arg)
|
|
|
NM_198334.3(GANAB):c.2561A>G (p.Tyr854Cys)
|
|
|
NM_198334.3(GANAB):c.2563C>G (p.Gln855Glu)
|
|
|
NM_198334.3(GANAB):c.2606G>A (p.Gly869Asp)
|
|
|
NM_198334.3(GANAB):c.2632G>C (p.Asp878His)
|
|
|
NM_198334.3(GANAB):c.2683A>G (p.Ile895Val)
|
|
|
NM_198334.3(GANAB):c.274C>T (p.Gln92Ter)
|
|
|
NM_198334.3(GANAB):c.2750T>G (p.Phe917Cys)
|
|
|
NM_198334.3(GANAB):c.283C>T (p.Gln95Ter)
|
|
|
NM_198334.3(GANAB):c.305G>A (p.Arg102Lys)
|
|
|
NM_198334.3(GANAB):c.328C>T (p.Arg110Ter)
|
|
|
NM_198334.3(GANAB):c.32G>A (p.Arg11Lys)
|
|
|
NM_198334.3(GANAB):c.332C>G (p.Pro111Arg)
|
|
|
NM_198334.3(GANAB):c.334C>T (p.Arg112Ter)
|
|
|
NM_198334.3(GANAB):c.340C>T (p.Arg114Cys)
|
|
|
NM_198334.3(GANAB):c.428C>A (p.Ala143Asp)
|
|
|
NM_198334.3(GANAB):c.476A>T (p.Asp159Val)
|
|
|
NM_198334.3(GANAB):c.487G>T (p.Asp163Tyr)
|
|
|
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter)
|
rs754785664
|
|
NM_198334.3(GANAB):c.491G>A (p.Arg164Gln)
|
rs1250954225
|
|
NM_198334.3(GANAB):c.496C>A (p.Leu166Ile)
|
|
|
NM_198334.3(GANAB):c.501G>T (p.Leu167Phe)
|
|
|
NM_198334.3(GANAB):c.512A>G (p.Asn171Ser)
|
|
|
NM_198334.3(GANAB):c.516_517delinsAT (p.Arg173Ter)
|
|
|
NM_198334.3(GANAB):c.551C>T (p.Pro184Leu)
|
|
|
NM_198334.3(GANAB):c.560+441C>G
|
|
|
NM_198334.3(GANAB):c.560+451C>T
|
|
|
NM_198334.3(GANAB):c.589G>A (p.Asp197Asn)
|
|
|
NM_198334.3(GANAB):c.655G>A (p.Glu219Lys)
|
|
|
NM_198334.3(GANAB):c.661G>C (p.Asp221His)
|
|
|
NM_198334.3(GANAB):c.690C>A (p.Phe230Leu)
|
|
|
NM_198334.3(GANAB):c.718+12G>A
|
|
|
NM_198334.3(GANAB):c.721C>G (p.Pro241Ala)
|
|
|
NM_198334.3(GANAB):c.725T>C (p.Met242Thr)
|
|
|
NM_198334.3(GANAB):c.737T>G (p.Leu246Trp)
|
|
|
NM_198334.3(GANAB):c.73G>A (p.Val25Ile)
|
|
|
NM_198334.3(GANAB):c.754G>A (p.Gly252Ser)
|
|
|
NM_198334.3(GANAB):c.815+3G>A
|
|
|
NM_198334.3(GANAB):c.842A>G (p.Asn281Ser)
|
|
|
NM_198334.3(GANAB):c.997-12T>C
|
|
|