NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp)
|
rs55840049
|
0.00551
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
|
rs139971481
|
0.00222
|
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile)
|
rs147788838
|
0.00178
|
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)
|
rs200037070
|
0.00145
|
NM_001009944.3(PKD1):c.11017-3C>T
|
rs185355445
|
0.00135
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu)
|
rs145922241
|
0.00077
|
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)
|
rs141274774
|
0.00067
|
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu)
|
rs886038369
|
0.00065
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn)
|
rs199700485
|
0.00048
|
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln)
|
rs146494724
|
0.00044
|
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val)
|
rs780145654
|
0.00039
|
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)
|
rs748887038
|
0.00036
|
NM_001009944.3(PKD1):c.4838C>T (p.Ala1613Val)
|
rs150405131
|
0.00036
|
NM_001009944.3(PKD1):c.8017G>C (p.Gly2673Arg)
|
rs563412045
|
0.00032
|
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)
|
rs374500158
|
0.00029
|
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His)
|
rs200168879
|
0.00029
|
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp)
|
rs536586062
|
0.00026
|
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met)
|
rs147141131
|
0.00025
|
NM_001009944.3(PKD1):c.674C>T (p.Ser225Leu)
|
rs748021456
|
0.00024
|
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr)
|
rs529066905
|
0.00024
|
NM_001009944.3(PKD1):c.8087T>C (p.Leu2696Pro)
|
rs201238819
|
0.00024
|
NM_001009944.3(PKD1):c.8593C>T (p.Arg2865Trp)
|
rs370251642
|
0.00024
|
NM_001009944.3(PKD1):c.7622C>T (p.Pro2541Leu)
|
rs538031465
|
0.00022
|
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln)
|
rs201021499
|
0.00021
|
NM_001009944.3(PKD1):c.9923+35G>T
|
rs376365127
|
0.00021
|
NM_001009944.3(PKD1):c.2081C>T (p.Pro694Leu)
|
rs138575342
|
0.00020
|
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)
|
rs556618384
|
0.00020
|
NM_001009944.3(PKD1):c.9668C>T (p.Thr3223Met)
|
rs202227418
|
0.00019
|
NM_001009944.3(PKD1):c.10920C>T (p.Ser3640=)
|
rs150388984
|
0.00018
|
NM_001009944.3(PKD1):c.12818G>A (p.Arg4273His)
|
rs200446880
|
0.00018
|
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His)
|
rs375198888
|
0.00018
|
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp)
|
rs746771378
|
0.00017
|
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg)
|
rs749291211
|
0.00017
|
NM_001009944.3(PKD1):c.10405+7T>C
|
rs201762369
|
0.00016
|
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln)
|
rs759950842
|
0.00016
|
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys)
|
rs773407492
|
0.00016
|
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys)
|
rs765009165
|
0.00016
|
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg)
|
rs200001471
|
0.00015
|
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu)
|
rs200646755
|
0.00015
|
NM_001009944.3(PKD1):c.2009C>T (p.Thr670Met)
|
rs377136828
|
0.00014
|
NM_001009944.3(PKD1):c.2773C>T (p.Arg925Trp)
|
rs549638171
|
0.00014
|
NM_001009944.3(PKD1):c.3069G>C (p.Gln1023His)
|
rs568163462
|
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.8041C>T (p.Arg2681Cys)
|
rs540634317
|
0.00014
|
NM_001009944.3(PKD1):c.4193C>T (p.Ala1398Val)
|
rs147796956
|
0.00013
|
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser)
|
rs199947459
|
0.00013
|
NM_001009944.3(PKD1):c.6439C>T (p.Arg2147Trp)
|
rs140880305
|
0.00013
|
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val)
|
rs17135779
|
0.00013
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met)
|
rs767665300
|
0.00011
|
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu)
|
rs201062488
|
0.00011
|
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr)
|
rs556305338
|
0.00011
|
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn)
|
rs150189496
|
0.00011
|
NM_001009944.3(PKD1):c.9277G>A (p.Ala3093Thr)
|
rs111458906
|
0.00011
|
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg)
|
rs777024498
|
0.00011
|
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp)
|
rs769208706
|
0.00010
|
NM_001009944.3(PKD1):c.1867A>C (p.Ser623Arg)
|
rs750430411
|
0.00010
|
NM_001009944.3(PKD1):c.3486C>G (p.Asp1162Glu)
|
rs144211349
|
0.00010
|
NM_001009944.3(PKD1):c.3854G>A (p.Arg1285Gln)
|
rs368189158
|
0.00010
|
NM_001009944.3(PKD1):c.6575C>G (p.Thr2192Ser)
|
rs919229409
|
0.00010
|
NM_001009944.3(PKD1):c.8392G>A (p.Gly2798Ser)
|
rs139544953
|
0.00010
|
NM_001009944.3(PKD1):c.8464G>A (p.Val2822Met)
|
rs201289693
|
0.00010
|
NM_001009944.3(PKD1):c.10102G>A (p.Asp3368Asn)
|
rs762866943
|
0.00009
|
NM_001009944.3(PKD1):c.10391C>T (p.Ser3464Phe)
|
rs375501810
|
0.00009
|
NM_001009944.3(PKD1):c.12051G>C (p.Lys4017Asn)
|
rs151044657
|
0.00009
|
NM_001009944.3(PKD1):c.12648A>C (p.Gln4216His)
|
rs751511886
|
0.00009
|
NM_001009944.3(PKD1):c.1799G>A (p.Arg600Gln)
|
rs572116802
|
0.00009
|
NM_001009944.3(PKD1):c.2548G>A (p.Asp850Asn)
|
rs756092510
|
0.00009
|
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met)
|
rs552292318
|
0.00009
|
NM_001009944.3(PKD1):c.6457G>A (p.Val2153Met)
|
rs779219568
|
0.00009
|
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp)
|
rs373256534
|
0.00009
|
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp)
|
rs751031560
|
0.00009
|
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys)
|
rs374629549
|
0.00009
|
NM_001009944.3(PKD1):c.8716G>A (p.Gly2906Ser)
|
rs376611349
|
0.00009
|
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile)
|
rs751776839
|
0.00008
|
NM_001009944.3(PKD1):c.12766G>A (p.Ala4256Thr)
|
rs376769777
|
0.00008
|
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala)
|
rs766549097
|
0.00008
|
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe)
|
rs543561238
|
0.00008
|
NM_001009944.3(PKD1):c.5957C>T (p.Thr1986Met)
|
rs200139724
|
0.00008
|
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)
|
rs530832015
|
0.00008
|
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln)
|
rs62038819
|
0.00008
|
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln)
|
rs367746233
|
0.00008
|
NM_001009944.3(PKD1):c.10366G>A (p.Ala3456Thr)
|
rs370498086
|
0.00007
|
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser)
|
rs766302578
|
0.00007
|
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)
|
rs746910149
|
0.00007
|
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser)
|
rs544092291
|
0.00007
|
NM_001009944.3(PKD1):c.6209C>G (p.Pro2070Arg)
|
rs754944119
|
0.00007
|
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val)
|
rs769636582
|
0.00007
|
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys)
|
rs554493059
|
0.00007
|
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr)
|
rs555901411
|
0.00007
|
NM_001009944.3(PKD1):c.10141C>T (p.Leu3381Phe)
|
rs142799331
|
0.00006
|
NM_001009944.3(PKD1):c.10429C>A (p.Leu3477Ile)
|
rs62621452
|
0.00006
|
NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp)
|
rs140389000
|
0.00006
|
NM_001009944.3(PKD1):c.37C>G (p.Leu13Val)
|
rs982042024
|
0.00006
|
NM_001009944.3(PKD1):c.4019G>A (p.Arg1340Gln)
|
rs377331478
|
0.00006
|
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
|
rs374424212
|
0.00006
|
NM_001009944.3(PKD1):c.5180C>T (p.Pro1727Leu)
|
rs373060372
|
0.00006
|
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr)
|
rs779342040
|
0.00006
|
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser)
|
rs376618983
|
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.9620C>T (p.Thr3207Met)
|
rs200214266
|
0.00006
|
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr)
|
rs757107371
|
0.00005
|
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser)
|
rs752995047
|
0.00005
|
NM_001009944.3(PKD1):c.4541C>G (p.Thr1514Ser)
|
rs779030441
|
0.00005
|
NM_001009944.3(PKD1):c.4737C>T (p.Arg1579=)
|
rs765027813
|
0.00005
|
NM_001009944.3(PKD1):c.5571G>A (p.Pro1857=)
|
rs564598290
|
0.00005
|
NM_001009944.3(PKD1):c.5933A>G (p.Asn1978Ser)
|
rs373707925
|
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.7516G>A (p.Ala2506Thr)
|
rs755942659
|
0.00005
|
NM_001009944.3(PKD1):c.7870C>T (p.Arg2624Trp)
|
rs766658912
|
0.00005
|
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu)
|
rs151308544
|
0.00005
|
NM_001009944.3(PKD1):c.8559C>G (p.Phe2853Leu)
|
rs757471042
|
0.00005
|
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
|
rs142733588
|
0.00005
|
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys)
|
rs773857360
|
0.00005
|
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser)
|
rs886265852
|
0.00005
|
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys)
|
rs531854741
|
0.00005
|
NM_001009944.3(PKD1):c.997G>A (p.Val333Met)
|
rs772316684
|
0.00005
|
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser)
|
rs781492044
|
0.00004
|
NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg)
|
rs562768017
|
0.00004
|
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys)
|
rs553106581
|
0.00004
|
NM_001009944.3(PKD1):c.11954C>G (p.Ser3985Cys)
|
rs749274013
|
0.00004
|
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg)
|
rs776110243
|
0.00004
|
NM_001009944.3(PKD1):c.2550C>G (p.Asp850Glu)
|
rs750466610
|
0.00004
|
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu)
|
rs138096771
|
0.00004
|
NM_001009944.3(PKD1):c.4355C>T (p.Ser1452Phe)
|
rs767435117
|
0.00004
|
NM_001009944.3(PKD1):c.4451C>T (p.Pro1484Leu)
|
rs759853409
|
0.00004
|
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=)
|
rs142035983
|
0.00004
|
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu)
|
rs767363184
|
0.00004
|
NM_001009944.3(PKD1):c.634G>A (p.Ala212Thr)
|
rs930784426
|
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.7487C>T (p.Thr2496Met)
|
rs3952944
|
0.00004
|
NM_001009944.3(PKD1):c.7615C>G (p.Leu2539Val)
|
rs756322717
|
0.00004
|
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg)
|
rs202086892
|
0.00004
|
NM_001009944.3(PKD1):c.8708C>T (p.Ala2903Val)
|
rs777129763
|
0.00004
|
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr)
|
rs533152302
|
0.00004
|
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile)
|
rs754956606
|
0.00003
|
NM_001009944.3(PKD1):c.10435G>A (p.Glu3479Lys)
|
rs779460999
|
0.00003
|
NM_001009944.3(PKD1):c.11157-9C>G
|
rs1191413154
|
0.00003
|
NM_001009944.3(PKD1):c.11344G>A (p.Asp3782Asn)
|
rs758307192
|
0.00003
|
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile)
|
rs200120839
|
0.00003
|
NM_001009944.3(PKD1):c.11813G>A (p.Arg3938Gln)
|
rs944432348
|
0.00003
|
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)
|
rs760873748
|
0.00003
|
NM_001009944.3(PKD1):c.12039C>T (p.Ser4013=)
|
rs200796474
|
0.00003
|
NM_001009944.3(PKD1):c.1212G>A (p.Pro404=)
|
rs578104257
|
0.00003
|
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp)
|
rs889547396
|
0.00003
|
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala)
|
rs1341672915
|
0.00003
|
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)
|
rs536050342
|
0.00003
|
NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln)
|
rs781282665
|
0.00003
|
NM_001009944.3(PKD1):c.1328C>T (p.Ala443Val)
|
rs535399366
|
0.00003
|
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser)
|
rs1320256969
|
0.00003
|
NM_001009944.3(PKD1):c.2222C>T (p.Pro741Leu)
|
rs779605081
|
0.00003
|
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu)
|
rs761540024
|
0.00003
|
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)
|
rs932577597
|
0.00003
|
NM_001009944.3(PKD1):c.2396G>A (p.Arg799Gln)
|
rs766489466
|
0.00003
|
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp)
|
rs773426104
|
0.00003
|
NM_001009944.3(PKD1):c.2495G>A (p.Arg832His)
|
rs565256491
|
0.00003
|
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)
|
rs773329559
|
0.00003
|
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys)
|
rs1085307552
|
0.00003
|
NM_001009944.3(PKD1):c.3029A>G (p.Asn1010Ser)
|
rs149041162
|
0.00003
|
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys)
|
rs770755888
|
0.00003
|
NM_001009944.3(PKD1):c.3364G>A (p.Val1122Met)
|
rs757714318
|
0.00003
|
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser)
|
rs573566419
|
0.00003
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
NM_001009944.3(PKD1):c.3620G>A (p.Arg1207His)
|
rs771645362
|
0.00003
|
NM_001009944.3(PKD1):c.3768G>A (p.Pro1256=)
|
rs770836714
|
0.00003
|
NM_001009944.3(PKD1):c.3827C>T (p.Ala1276Val)
|
rs776429943
|
0.00003
|
NM_001009944.3(PKD1):c.4049C>T (p.Thr1350Met)
|
rs777460980
|
0.00003
|
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met)
|
rs368161263
|
0.00003
|
NM_001009944.3(PKD1):c.4876G>A (p.Val1626Ile)
|
rs764356283
|
0.00003
|
NM_001009944.3(PKD1):c.4918G>A (p.Gly1640Ser)
|
rs781184044
|
0.00003
|
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser)
|
rs552542784
|
0.00003
|
NM_001009944.3(PKD1):c.5132C>T (p.Thr1711Ile)
|
rs750076336
|
0.00003
|
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr)
|
rs779607937
|
0.00003
|
NM_001009944.3(PKD1):c.5570C>T (p.Pro1857Leu)
|
rs370941778
|
0.00003
|
NM_001009944.3(PKD1):c.5645C>T (p.Thr1882Met)
|
rs772716160
|
0.00003
|
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
|
rs776028509
|
0.00003
|
NM_001009944.3(PKD1):c.5777C>T (p.Ala1926Val)
|
rs754890213
|
0.00003
|
NM_001009944.3(PKD1):c.5911G>A (p.Val1971Met)
|
rs140434415
|
0.00003
|
NM_001009944.3(PKD1):c.5943G>T (p.Glu1981Asp)
|
rs567995837
|
0.00003
|
NM_001009944.3(PKD1):c.6001C>T (p.Arg2001Trp)
|
rs773069152
|
0.00003
|
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr)
|
rs771364071
|
0.00003
|
NM_001009944.3(PKD1):c.6230C>T (p.Ala2077Val)
|
rs142493877
|
0.00003
|
NM_001009944.3(PKD1):c.6440G>A (p.Arg2147Gln)
|
rs771035065
|
0.00003
|
NM_001009944.3(PKD1):c.6605C>T (p.Ala2202Val)
|
rs764264106
|
0.00003
|
NM_001009944.3(PKD1):c.664G>A (p.Ala222Thr)
|
rs1391867937
|
0.00003
|
NM_001009944.3(PKD1):c.6838G>A (p.Glu2280Lys)
|
rs375782776
|
0.00003
|
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met)
|
rs748496650
|
0.00003
|
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val)
|
rs761726794
|
0.00003
|
NM_001009944.3(PKD1):c.8843C>T (p.Ser2948Leu)
|
rs146250848
|
0.00003
|
NM_001009944.3(PKD1):c.8851C>T (p.Arg2951Trp)
|
rs369731124
|
0.00003
|
NM_001009944.3(PKD1):c.9077G>A (p.Arg3026Gln)
|
rs576970336
|
0.00003
|
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile)
|
rs966307189
|
0.00003
|
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser)
|
rs1211697062
|
0.00003
|
NM_001009944.3(PKD1):c.9313C>T (p.Arg3105Trp)
|
rs1376608198
|
0.00003
|
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
|
rs776866974
|
0.00003
|
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val)
|
rs779137772
|
0.00003
|
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val)
|
rs780284563
|
0.00003
|
NM_001009944.3(PKD1):c.9736C>T (p.Arg3246Trp)
|
rs746231158
|
0.00003
|
NM_001009944.3(PKD1):c.9764G>A (p.Arg3255His)
|
rs1052458360
|
0.00003
|
NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp)
|
rs980803513
|
0.00003
|
NM_001009944.3(PKD1):c.9814C>T (p.Arg3272Cys)
|
rs143453080
|
0.00003
|
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile)
|
rs201780393
|
0.00003
|
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr)
|
rs1422578175
|
0.00003
|
NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu)
|
rs779271659
|
0.00002
|
NM_001009944.3(PKD1):c.11198C>T (p.Pro3733Leu)
|
rs2091644809
|
0.00002
|
NM_001009944.3(PKD1):c.1133A>G (p.Gln378Arg)
|
rs2092665938
|
0.00002
|
NM_001009944.3(PKD1):c.1193C>T (p.Pro398Leu)
|
rs1183794501
|
0.00002
|
NM_001009944.3(PKD1):c.12226C>G (p.Pro4076Ala)
|
rs375653663
|
0.00002
|
NM_001009944.3(PKD1):c.12415C>T (p.Leu4139Phe)
|
rs373984948
|
0.00002
|
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala)
|
rs1114167365
|
0.00002
|
NM_001009944.3(PKD1):c.12871C>A (p.Pro4291Thr)
|
rs1041724463
|
0.00002
|
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys)
|
rs765408067
|
0.00002
|
NM_001009944.3(PKD1):c.169C>T (p.Arg57Trp)
|
rs1315029199
|
0.00002
|
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)
|
rs1300272809
|
0.00002
|
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val)
|
rs775988021
|
0.00002
|
NM_001009944.3(PKD1):c.2602G>A (p.Ala868Thr)
|
rs769711984
|
0.00002
|
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=)
|
rs754575596
|
0.00002
|
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn)
|
rs553360241
|
0.00002
|
NM_001009944.3(PKD1):c.4472G>T (p.Gly1491Val)
|
rs376028977
|
0.00002
|
NM_001009944.3(PKD1):c.4513G>A (p.Gly1505Ser)
|
rs1169417989
|
0.00002
|
NM_001009944.3(PKD1):c.503G>C (p.Gly168Ala)
|
rs892397726
|
0.00002
|
NM_001009944.3(PKD1):c.5068G>A (p.Ala1690Thr)
|
rs780133373
|
0.00002
|
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln)
|
rs569887918
|
0.00002
|
NM_001009944.3(PKD1):c.5210C>T (p.Thr1737Ile)
|
rs773343118
|
0.00002
|
NM_001009944.3(PKD1):c.5960G>A (p.Gly1987Asp)
|
rs527929848
|
0.00002
|
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu)
|
rs781681199
|
0.00002
|
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)
|
rs375006983
|
0.00002
|
NM_001009944.3(PKD1):c.7222C>T (p.Arg2408Cys)
|
rs538769374
|
0.00002
|
NM_001009944.3(PKD1):c.7479C>G (p.Phe2493Leu)
|
rs752349510
|
0.00002
|
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly)
|
rs3874655
|
0.00002
|
NM_001009944.3(PKD1):c.7612G>A (p.Val2538Met)
|
rs149281650
|
0.00002
|
NM_001009944.3(PKD1):c.7777G>A (p.Ala2593Thr)
|
rs760879762
|
0.00002
|
NM_001009944.3(PKD1):c.788C>A (p.Thr263Asn)
|
rs900664088
|
0.00002
|
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile)
|
rs566531762
|
0.00002
|
NM_001009944.3(PKD1):c.8161+4C>T
|
rs766547394
|
0.00002
|
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu)
|
rs769345341
|
0.00002
|
NM_001009944.3(PKD1):c.8795A>G (p.His2932Arg)
|
rs201524173
|
0.00002
|
NM_001009944.3(PKD1):c.8920C>T (p.Arg2974Trp)
|
rs536893844
|
0.00002
|
NM_001009944.3(PKD1):c.9058G>A (p.Glu3020Lys)
|
rs746423125
|
0.00002
|
NM_001009944.3(PKD1):c.9334T>C (p.Cys3112Arg)
|
rs1405051804
|
0.00002
|
NM_001009944.3(PKD1):c.9443G>A (p.Arg3148Gln)
|
rs762936616
|
0.00002
|
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His)
|
rs1063405
|
0.00002
|
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met)
|
rs1459100196
|
0.00002
|
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys)
|
rs1287231217
|
0.00001
|
NM_001009944.3(PKD1):c.10064C>T (p.Pro3355Leu)
|
rs781263445
|
0.00001
|
NM_001009944.3(PKD1):c.10453G>T (p.Ala3485Ser)
|
rs2091883615
|
0.00001
|
NM_001009944.3(PKD1):c.10481C>T (p.Thr3494Met)
|
rs752503970
|
0.00001
|
NM_001009944.3(PKD1):c.10826T>C (p.Leu3609Ser)
|
rs776847358
|
0.00001
|
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met)
|
rs1428207672
|
0.00001
|
NM_001009944.3(PKD1):c.10903G>C (p.Ala3635Pro)
|
rs1166642512
|
0.00001
|
NM_001009944.3(PKD1):c.10940G>A (p.Arg3647Gln)
|
rs1415072762
|
0.00001
|
NM_001009944.3(PKD1):c.11623G>A (p.Ala3875Thr)
|
rs1381046981
|
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.12336C>T (p.Ala4112=)
|
rs774821005
|
0.00001
|
NM_001009944.3(PKD1):c.12387G>A (p.Met4129Ile)
|
rs750629950
|
0.00001
|
NM_001009944.3(PKD1):c.12413G>A (p.Arg4138His)
|
rs1321320963
|
0.00001
|
NM_001009944.3(PKD1):c.12479C>T (p.Pro4160Leu)
|
rs780598231
|
0.00001
|
NM_001009944.3(PKD1):c.12526C>T (p.Pro4176Ser)
|
rs755976712
|
0.00001
|
NM_001009944.3(PKD1):c.12559C>T (p.Pro4187Ser)
|
rs778378731
|
0.00001
|
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro)
|
rs1230641065
|
0.00001
|
NM_001009944.3(PKD1):c.12758G>A (p.Arg4253Gln)
|
rs771695253
|
0.00001
|
NM_001009944.3(PKD1):c.1754G>A (p.Arg585His)
|
rs753885924
|
0.00001
|
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser)
|
rs1311664031
|
0.00001
|
NM_001009944.3(PKD1):c.2279G>T (p.Gly760Val)
|
rs759750588
|
0.00001
|
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile)
|
rs928084406
|
0.00001
|
NM_001009944.3(PKD1):c.2377C>T (p.Pro793Ser)
|
rs762974428
|
0.00001
|
NM_001009944.3(PKD1):c.2699C>T (p.Pro900Leu)
|
rs756619253
|
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.3037G>A (p.Val1013Met)
|
rs1301518884
|
0.00001
|
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp)
|
rs751946869
|
0.00001
|
NM_001009944.3(PKD1):c.3355C>A (p.Pro1119Thr)
|
rs2092514047
|
0.00001
|
NM_001009944.3(PKD1):c.340T>G (p.Leu114Val)
|
rs980956715
|
0.00001
|
NM_001009944.3(PKD1):c.3499T>C (p.Ser1167Pro)
|
rs769818833
|
0.00001
|
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val)
|
rs144338515
|
0.00001
|
NM_001009944.3(PKD1):c.3697G>A (p.Ala1233Thr)
|
rs752993263
|
0.00001
|
NM_001009944.3(PKD1):c.3761C>T (p.Ser1254Leu)
|
rs763539652
|
0.00001
|
NM_001009944.3(PKD1):c.3767C>T (p.Pro1256Leu)
|
rs149156000
|
0.00001
|
NM_001009944.3(PKD1):c.3884A>C (p.Glu1295Ala)
|
rs746215131
|
0.00001
|
NM_001009944.3(PKD1):c.3992G>A (p.Gly1331Glu)
|
rs760982070
|
0.00001
|
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser)
|
rs1474271392
|
0.00001
|
NM_001009944.3(PKD1):c.4103C>T (p.Ala1368Val)
|
rs562184754
|
0.00001
|
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys)
|
rs755462601
|
0.00001
|
NM_001009944.3(PKD1):c.4191G>T (p.Glu1397Asp)
|
rs1356967038
|
0.00001
|
NM_001009944.3(PKD1):c.4661A>G (p.Asn1554Ser)
|
rs751868419
|
0.00001
|
NM_001009944.3(PKD1):c.4664C>T (p.Ala1555Val)
|
rs758865304
|
0.00001
|
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met)
|
rs2575314
|
0.00001
|
NM_001009944.3(PKD1):c.4723G>A (p.Gly1575Ser)
|
rs751223759
|
0.00001
|
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro)
|
rs541777274
|
0.00001
|
NM_001009944.3(PKD1):c.4764C>T (p.Cys1588=)
|
rs376144237
|
0.00001
|
NM_001009944.3(PKD1):c.5122G>A (p.Ala1708Thr)
|
rs758961825
|
0.00001
|
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn)
|
rs1199050207
|
0.00001
|
NM_001009944.3(PKD1):c.5203A>T (p.Ser1735Cys)
|
rs1064796417
|
0.00001
|
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
|
rs760993331
|
0.00001
|
NM_001009944.3(PKD1):c.5284A>G (p.Thr1762Ala)
|
rs369625462
|
0.00001
|
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala)
|
rs1555459201
|
0.00001
|
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met)
|
rs1114167373
|
0.00001
|
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr)
|
rs556681288
|
0.00001
|
NM_001009944.3(PKD1):c.6178G>A (p.Ala2060Thr)
|
rs371767717
|
0.00001
|
NM_001009944.3(PKD1):c.6313A>G (p.Thr2105Ala)
|
rs1229710301
|
0.00001
|
NM_001009944.3(PKD1):c.6356A>G (p.Asp2119Gly)
|
rs755560531
|
0.00001
|
NM_001009944.3(PKD1):c.6377C>T (p.Ala2126Val)
|
rs574142158
|
0.00001
|
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val)
|
rs368987928
|
0.00001
|
NM_001009944.3(PKD1):c.6446C>T (p.Pro2149Leu)
|
rs982097679
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001009944.3(PKD1):c.6679C>T (p.His2227Tyr)
|
rs1257476353
|
0.00001
|
NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr)
|
rs749515571
|
0.00001
|
NM_001009944.3(PKD1):c.6764G>A (p.Arg2255His)
|
rs538164729
|
0.00001
|
NM_001009944.3(PKD1):c.6771G>A (p.Val2257=)
|
rs770172913
|
0.00001
|
NM_001009944.3(PKD1):c.6952C>T (p.Arg2318Cys)
|
rs768275494
|
0.00001
|
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met)
|
rs758620810
|
0.00001
|
NM_001009944.3(PKD1):c.7065G>A (p.Thr2355=)
|
rs573444508
|
0.00001
|
NM_001009944.3(PKD1):c.709C>G (p.Pro237Ala)
|
rs1350910449
|
0.00001
|
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)
|
rs1367567191
|
0.00001
|
NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg)
|
rs1430979320
|
0.00001
|
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys)
|
rs762786891
|
0.00001
|
NM_001009944.3(PKD1):c.7517C>T (p.Ala2506Val)
|
rs529669059
|
0.00001
|
NM_001009944.3(PKD1):c.7775C>T (p.Thr2592Ile)
|
rs1458197743
|
0.00001
|
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=)
|
rs377029031
|
0.00001
|
NM_001009944.3(PKD1):c.8062C>G (p.Leu2688Val)
|
rs538493647
|
0.00001
|
NM_001009944.3(PKD1):c.8134A>G (p.Ile2712Val)
|
rs778862620
|
0.00001
|
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu)
|
rs760592410
|
0.00001
|
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)
|
rs879809222
|
0.00001
|
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His)
|
rs770080914
|
0.00001
|
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met)
|
rs1456510041
|
0.00001
|
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser)
|
rs1057523051
|
0.00001
|
NM_001009944.3(PKD1):c.8688C>T (p.Ser2896=)
|
rs548736542
|
0.00001
|
NM_001009944.3(PKD1):c.8747C>T (p.Pro2916Leu)
|
rs775980046
|
0.00001
|
NM_001009944.3(PKD1):c.8791+5G>A
|
rs751652400
|
0.00001
|
NM_001009944.3(PKD1):c.8890C>T (p.Arg2964Cys)
|
rs139631668
|
0.00001
|
NM_001009944.3(PKD1):c.9034A>G (p.Thr3012Ala)
|
rs767541153
|
0.00001
|
NM_001009944.3(PKD1):c.9142C>T (p.Leu3048Phe)
|
rs1253909708
|
0.00001
|
NM_001009944.3(PKD1):c.9485G>A (p.Arg3162His)
|
rs1189208643
|
0.00001
|
NM_001009944.3(PKD1):c.9505C>T (p.Arg3169Trp)
|
rs765180455
|
0.00001
|
NM_001009944.3(PKD1):c.9659C>T (p.Ser3220Leu)
|
rs144246138
|
0.00001
|
NM_001009944.3(PKD1):c.9679G>A (p.Gly3227Arg)
|
rs1459262773
|
0.00001
|
NM_001009944.3(PKD1):c.9688G>C (p.Val3230Leu)
|
rs747054731
|
0.00001
|
NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys)
|
rs757771138
|
0.00001
|
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His)
|
rs1452116333
|
0.00001
|
NM_001009944.3(PKD1):c.9873C>G (p.Phe3291Leu)
|
rs767268955
|
0.00001
|
NM_001009944.3(PKD1):c.9885C>T (p.Asn3295=)
|
rs764028566
|
0.00001
|
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)
|
rs773798664
|
0.00001
|
NM_001009944.3(PKD1):c.9994G>T (p.Val3332Phe)
|
rs1272713748
|
0.00001
|
NC_000016.10:g.2137428_2137718del
|
|
|
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.10051-3C>G
|
rs980155038
|
|
NM_001009944.3(PKD1):c.10054G>A (p.Ala3352Thr)
|
|
|
NM_001009944.3(PKD1):c.10057G>A (p.Gly3353Arg)
|
|
|
NM_001009944.3(PKD1):c.10082G>A (p.Gly3361Glu)
|
|
|
NM_001009944.3(PKD1):c.10085A>G (p.Gln3362Arg)
|
|
|
NM_001009944.3(PKD1):c.10098C>G (p.Asp3366Glu)
|
|
|
NM_001009944.3(PKD1):c.1010T>G (p.Leu337Arg)
|
|
|
NM_001009944.3(PKD1):c.10123G>A (p.Val3375Met)
|
|
|
NM_001009944.3(PKD1):c.10128G>A (p.Leu3376=)
|
|
|
NM_001009944.3(PKD1):c.10149C>T (p.Phe3383=)
|
|
|
NM_001009944.3(PKD1):c.10168-12_10168-11del
|
|
|
NM_001009944.3(PKD1):c.10168-7C>G
|
|
|
NM_001009944.3(PKD1):c.10168_10170del
|
|
|
NM_001009944.3(PKD1):c.10220+4G>C
|
|
|
NM_001009944.3(PKD1):c.10221-3C>T
|
|
|
NM_001009944.3(PKD1):c.10233G>T (p.Trp3411Cys)
|
|
|
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.10273A>G (p.Ser3425Gly)
|
|
|
NM_001009944.3(PKD1):c.1028C>T (p.Ser343Leu)
|
|
|
NM_001009944.3(PKD1):c.10290G>A (p.Val3430=)
|
rs2544688515
|
|
NM_001009944.3(PKD1):c.10348G>A (p.Glu3450Lys)
|
|
|
NM_001009944.3(PKD1):c.10350G>C (p.Glu3450Asp)
|
|
|
NM_001009944.3(PKD1):c.10354G>T (p.Gly3452Cys)
|
|
|
NM_001009944.3(PKD1):c.10373C>T (p.Pro3458Leu)
|
|
|
NM_001009944.3(PKD1):c.10395C>T (p.Phe3465=)
|
|
|
NM_001009944.3(PKD1):c.10403C>T (p.Ser3468Leu)
|
|
|
NM_001009944.3(PKD1):c.10405G>C (p.Asp3469His)
|
|
|
NM_001009944.3(PKD1):c.10419C>G (p.Ile3473Met)
|
rs2091884870
|
|
NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile)
|
rs776616291
|
|
NM_001009944.3(PKD1):c.10433C>T (p.Ala3478Val)
|
rs2544685787
|
|
NM_001009944.3(PKD1):c.10441G>T (p.Val3481Phe)
|
|
|
NM_001009944.3(PKD1):c.10447A>G (p.Ser3483Gly)
|
|
|
NM_001009944.3(PKD1):c.10450C>G (p.Pro3484Ala)
|
|
|
NM_001009944.3(PKD1):c.10451C>G (p.Pro3484Arg)
|
|
|
NM_001009944.3(PKD1):c.10454C>T (p.Ala3485Val)
|
|
|
NM_001009944.3(PKD1):c.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.10550_10551insCCA (p.Gly3517_Glu3518insGln)
|
|
|
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.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.10657T>C (p.Trp3553Arg)
|
|
|
NM_001009944.3(PKD1):c.10659G>C (p.Trp3553Cys)
|
|
|
NM_001009944.3(PKD1):c.10670T>G (p.Leu3557Arg)
|
rs2544651770
|
|
NM_001009944.3(PKD1):c.1067C>T (p.Pro356Leu)
|
|
|
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.10712C>G (p.Ala3571Gly)
|
|
|
NM_001009944.3(PKD1):c.10720G>C (p.Gly3574Arg)
|
rs2544651044
|
|
NM_001009944.3(PKD1):c.1073C>T (p.Ala358Val)
|
|
|
NM_001009944.3(PKD1):c.10742C>T (p.Pro3581Leu)
|
|
|
NM_001009944.3(PKD1):c.10747G>A (p.Gly3583Ser)
|
|
|
NM_001009944.3(PKD1):c.10762T>A (p.Trp3588Arg)
|
|
|
NM_001009944.3(PKD1):c.10771T>C (p.Ser3591Pro)
|
rs2544650348
|
|
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe)
|
rs2091723749
|
|
NM_001009944.3(PKD1):c.10774AGC[1] (p.Ser3593del)
|
|
|
NM_001009944.3(PKD1):c.10776C>G (p.Ser3592Arg)
|
|
|
NM_001009944.3(PKD1):c.10778G>C (p.Ser3593Thr)
|
|
|
NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg)
|
rs1485228851
|
|
NM_001009944.3(PKD1):c.10802T>G (p.Leu3601Arg)
|
rs2544649965
|
|
NM_001009944.3(PKD1):c.10807T>A (p.Trp3603Arg)
|
|
|
NM_001009944.3(PKD1):c.10814C>T (p.Pro3605Leu)
|
|
|
NM_001009944.3(PKD1):c.10817T>C (p.Leu3606Pro)
|
|
|
NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg)
|
rs1057516200
|
|
NM_001009944.3(PKD1):c.10820A>T (p.Lys3607Met)
|
rs1555446946
|
|
NM_001009944.3(PKD1):c.10821G>C (p.Lys3607Asn)
|
rs2091722144
|
|
NM_001009944.3(PKD1):c.10822-2A>G
|
rs2151707926
|
|
NM_001009944.3(PKD1):c.10834G>A (p.Ala3612Thr)
|
|
|
NM_001009944.3(PKD1):c.10834G>C (p.Ala3612Pro)
|
|
|
NM_001009944.3(PKD1):c.10849C>G (p.Leu3617Val)
|
|
|
NM_001009944.3(PKD1):c.10871C>T (p.Pro3624Leu)
|
rs764059379
|
|
NM_001009944.3(PKD1):c.1087T>G (p.Cys363Gly)
|
rs2544877825
|
|
NM_001009944.3(PKD1):c.10880A>G (p.Asp3627Gly)
|
|
|
NM_001009944.3(PKD1):c.10921G>A (p.Ala3641Thr)
|
|
|
NM_001009944.3(PKD1):c.10922C>T (p.Ala3641Val)
|
rs2091707606
|
|
NM_001009944.3(PKD1):c.10934G>A (p.Arg3645His)
|
|
|
NM_001009944.3(PKD1):c.10943C>T (p.Pro3648Leu)
|
rs1165539684
|
|
NM_001009944.3(PKD1):c.10945C>T (p.Pro3649Ser)
|
rs2544647097
|
|
NM_001009944.3(PKD1):c.10946C>A (p.Pro3649His)
|
rs2091706289
|
|
NM_001009944.3(PKD1):c.10948C>A (p.His3650Asn)
|
|
|
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser)
|
rs2091705970
|
|
NM_001009944.3(PKD1):c.10969G>C (p.Ala3657Pro)
|
|
|
NM_001009944.3(PKD1):c.1096T>C (p.Ser366Pro)
|
rs2092666416
|
|
NM_001009944.3(PKD1):c.10970C>T (p.Ala3657Val)
|
|
|
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.109T>G (p.Cys37Gly)
|
|
|
NM_001009944.3(PKD1):c.10G>C (p.Ala4Pro)
|
rs2544960800
|
|
NM_001009944.3(PKD1):c.11002C>T (p.His3668Tyr)
|
|
|
NM_001009944.3(PKD1):c.11004T>A (p.His3668Gln)
|
|
|
NM_001009944.3(PKD1):c.11005G>C (p.Gly3669Arg)
|
|
|
NM_001009944.3(PKD1):c.11007C>T (p.Gly3669=)
|
rs2544646197
|
|
NM_001009944.3(PKD1):c.11012T>C (p.Leu3671Pro)
|
|
|
NM_001009944.3(PKD1):c.11016+7C>G
|
|
|
NM_001009944.3(PKD1):c.11017-12C>G
|
|
|
NM_001009944.3(PKD1):c.11032A>G (p.Met3678Val)
|
|
|
NM_001009944.3(PKD1):c.11035C>G (p.Leu3679Val)
|
|
|
NM_001009944.3(PKD1):c.11041C>A (p.Leu3681Met)
|
|
|
NM_001009944.3(PKD1):c.11046G>A (p.Leu3682=)
|
|
|
NM_001009944.3(PKD1):c.11057T>G (p.Leu3686Arg)
|
|
|
NM_001009944.3(PKD1):c.11071_11088dup (p.Gly3696_His3697insAspAlaSerCysHisGly)
|
|
|
NM_001009944.3(PKD1):c.11082C>G (p.Cys3694Trp)
|
|
|
NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys)
|
rs758831274
|
|
NM_001009944.3(PKD1):c.11099G>T (p.Arg3700Leu)
|
|
|
NM_001009944.3(PKD1):c.110G>A (p.Cys37Tyr)
|
|
|
NM_001009944.3(PKD1):c.11102T>C (p.Leu3701Pro)
|
rs2544638432
|
|
NM_001009944.3(PKD1):c.11116A>G (p.Lys3706Glu)
|
rs2151704349
|
|
NM_001009944.3(PKD1):c.11123A>C (p.Glu3708Ala)
|
|
|
NM_001009944.3(PKD1):c.11134C>T (p.Arg3712Trp)
|
|
|
NM_001009944.3(PKD1):c.11144T>G (p.Leu3715Arg)
|
|
|
NM_001009944.3(PKD1):c.11150T>G (p.Ile3717Ser)
|
rs2544637950
|
|
NM_001009944.3(PKD1):c.11155C>T (p.Arg3719Trp)
|
rs1428669259
|
|
NM_001009944.3(PKD1):c.11156+12C>A
|
|
|
NM_001009944.3(PKD1):c.11157G>T (p.Arg3719=)
|
|
|
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala)
|
rs780574700
|
|
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys)
|
rs866331895
|
|
NM_001009944.3(PKD1):c.11182G>C (p.Ala3728Pro)
|
|
|
NM_001009944.3(PKD1):c.11188G>A (p.Val3730Met)
|
|
|
NM_001009944.3(PKD1):c.1118_1119delinsGT (p.Leu373Arg)
|
rs2544877658
|
|
NM_001009944.3(PKD1):c.11192_11193delinsCT (p.Leu3731Pro)
|
rs2544632089
|
|
NM_001009944.3(PKD1):c.11195T>C (p.Leu3732Pro)
|
|
|
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.11257C>A (p.Arg3753=)
|
|
|
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)
|
rs1555446330
|
|
NM_001009944.3(PKD1):c.11261T>C (p.Leu3754Pro)
|
rs2151701845
|
|
NM_001009944.3(PKD1):c.11269+3G>C
|
|
|
NM_001009944.3(PKD1):c.11269+6C>T
|
|
|
NM_001009944.3(PKD1):c.11270-10T>A
|
rs1567154300
|
|
NM_001009944.3(PKD1):c.11270-4del
|
|
|
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.11291G>T (p.Gly3764Val)
|
|
|
NM_001009944.3(PKD1):c.11297G>A (p.Arg3766Lys)
|
|
|
NM_001009944.3(PKD1):c.11316C>A (p.Ala3772=)
|
|
|
NM_001009944.3(PKD1):c.11317G>A (p.Ala3773Thr)
|
|
|
NM_001009944.3(PKD1):c.11322A>T (p.Gly3774=)
|
|
|
NM_001009944.3(PKD1):c.11330G>A (p.Ser3777Asn)
|
|
|
NM_001009944.3(PKD1):c.11338G>A (p.Asp3780Asn)
|
|
|
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.11342_11353del (p.Tyr3781_Gly3784del)
|
|
|
NM_001009944.3(PKD1):c.11347G>C (p.Val3783Leu)
|
rs200120839
|
|
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val)
|
rs142455071
|
|
NM_001009944.3(PKD1):c.11353T>C (p.Trp3785Arg)
|
|
|
NM_001009944.3(PKD1):c.11359_11370del (p.Ser3787_Asn3790del)
|
|
|
NM_001009944.3(PKD1):c.11361T>A (p.Ser3787Arg)
|
|
|
NM_001009944.3(PKD1):c.11381C>G (p.Thr3794Arg)
|
|
|
NM_001009944.3(PKD1):c.11389T>G (p.Tyr3797Asp)
|
|
|
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>T
|
|
|
NM_001009944.3(PKD1):c.11411+4A>G
|
rs2544624200
|
|
NM_001009944.3(PKD1):c.11411+5G>A
|
rs2544624169
|
|
NM_001009944.3(PKD1):c.11411+5_11411+38delinsAGGG
|
|
|
NM_001009944.3(PKD1):c.11412-7C>A
|
|
|
NM_001009944.3(PKD1):c.11412-7_11468del
|
rs2544620556
|
|
NM_001009944.3(PKD1):c.11418G>C (p.Trp3806Cys)
|
|
|
NM_001009944.3(PKD1):c.11426G>A (p.Gly3809Asp)
|
rs2854584
|
|
NM_001009944.3(PKD1):c.11431T>C (p.Cys3811Arg)
|
|
|
NM_001009944.3(PKD1):c.11450G>A (p.Gly3817Glu)
|
rs1168911293
|
|
NM_001009944.3(PKD1):c.11450G>C (p.Gly3817Ala)
|
|
|
NM_001009944.3(PKD1):c.11452G>C (p.Gly3818Arg)
|
|
|
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)
|
rs1555445740
|
|
NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)
|
|
|
NM_001009944.3(PKD1):c.11458G>A (p.Val3820Met)
|
|
|
NM_001009944.3(PKD1):c.11482GAG[1] (p.Glu3829del)
|
rs1596481630
|
|
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.1150G>T (p.Gly384Cys)
|
|
|
NM_001009944.3(PKD1):c.11510T>G (p.Leu3837Arg)
|
rs2544619907
|
|
NM_001009944.3(PKD1):c.11519A>C (p.His3840Pro)
|
rs2544619758
|
|
NM_001009944.3(PKD1):c.11522A>G (p.Asn3841Ser)
|
|
|
NM_001009944.3(PKD1):c.11527C>T (p.Leu3843=)
|
|
|
NM_001009944.3(PKD1):c.11532C>A (p.Asp3844Glu)
|
|
|
NM_001009944.3(PKD1):c.11532C>G (p.Asp3844Glu)
|
|
|
NM_001009944.3(PKD1):c.11538-5C>G
|
|
|
NM_001009944.3(PKD1):c.11546C>A (p.Ala3849Asp)
|
|
|
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro)
|
rs2092665731
|
|
NM_001009944.3(PKD1):c.11553C>G (p.Phe3851Leu)
|
|
|
NM_001009944.3(PKD1):c.11557G>A (p.Glu3853Lys)
|
rs2091580237
|
|
NM_001009944.3(PKD1):c.11558A>G (p.Glu3853Gly)
|
|
|
NM_001009944.3(PKD1):c.11563A>C (p.Thr3855Pro)
|
|
|
NM_001009944.3(PKD1):c.11564C>A (p.Thr3855Lys)
|
|
|
NM_001009944.3(PKD1):c.11568C>G (p.Arg3856=)
|
|
|
NM_001009944.3(PKD1):c.1156G>A (p.Glu386Lys)
|
|
|
NM_001009944.3(PKD1):c.11572_11592del (p.Ser3858_His3864del)
|
|
|
NM_001009944.3(PKD1):c.11583_11594dup (p.Ala3865_Ala3866insGlyLeuHisAla)
|
|
|
NM_001009944.3(PKD1):c.11588T>A (p.Leu3863Gln)
|
|
|
NM_001009944.3(PKD1):c.11599G>A (p.Val3867Ile)
|
|
|
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro)
|
rs1555445569
|
|
NM_001009944.3(PKD1):c.11609G>C (p.Arg3870Pro)
|
|
|
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln)
|
rs2091577195
|
|
NM_001009944.3(PKD1):c.11617T>C (p.Phe3873Leu)
|
|
|
NM_001009944.3(PKD1):c.1162G>T (p.Ala388Ser)
|
rs772111757
|
|
NM_001009944.3(PKD1):c.11635_11649dup (p.Leu3883_Ser3884insAlaLeuAlaAlaLeu)
|
|
|
NM_001009944.3(PKD1):c.11642C>A (p.Ala3881Asp)
|
rs2544614386
|
|
NM_001009944.3(PKD1):c.11683G>A (p.Ala3895Thr)
|
|
|
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val)
|
rs1251469390
|
|
NM_001009944.3(PKD1):c.11693C>T (p.Ser3898Leu)
|
|
|
NM_001009944.3(PKD1):c.11699C>T (p.Pro3900Leu)
|
|
|
NM_001009944.3(PKD1):c.1169G>A (p.Ser390Asn)
|
|
|
NM_001009944.3(PKD1):c.11708C>G (p.Thr3903Ser)
|
|
|
NM_001009944.3(PKD1):c.11713-29_11713-8del
|
rs2544601088
|
|
NM_001009944.3(PKD1):c.11713-3C>A
|
rs754015180
|
|
NM_001009944.3(PKD1):c.11713-6C>G
|
|
|
NM_001009944.3(PKD1):c.11716T>C (p.Cys3906Arg)
|
rs2091502521
|
|
NM_001009944.3(PKD1):c.11717G>A (p.Cys3906Tyr)
|
rs369291413
|
|
NM_001009944.3(PKD1):c.11720T>G (p.Leu3907Arg)
|
|
|
NM_001009944.3(PKD1):c.11728T>C (p.Phe3910Leu)
|
|
|
NM_001009944.3(PKD1):c.11741T>C (p.Phe3914Ser)
|
|
|
NM_001009944.3(PKD1):c.11744C>T (p.Ala3915Val)
|
rs778893944
|
|
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.11779C>T (p.Arg3927Cys)
|
|
|
NM_001009944.3(PKD1):c.11803G>A (p.Ala3935Thr)
|
|
|
NM_001009944.3(PKD1):c.11837C>A (p.Ala3946Glu)
|
|
|
NM_001009944.3(PKD1):c.11837C>T (p.Ala3946Val)
|
|
|
NM_001009944.3(PKD1):c.11839G>C (p.Ala3947Pro)
|
|
|
NM_001009944.3(PKD1):c.11839_11840delinsTT (p.Ala3947Phe)
|
|
|
NM_001009944.3(PKD1):c.11843C>G (p.Thr3948Arg)
|
rs2544598854
|
|
NM_001009944.3(PKD1):c.11855G>A (p.Arg3952His)
|
|
|
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro)
|
rs1424496188
|
|
NM_001009944.3(PKD1):c.11864A>G (p.Gln3955Arg)
|
|
|
NM_001009944.3(PKD1):c.1186G>A (p.Glu396Lys)
|
|
|
NM_001009944.3(PKD1):c.11872G>A (p.Ala3958Thr)
|
|
|
NM_001009944.3(PKD1):c.11872G>C (p.Ala3958Pro)
|
rs2091492509
|
|
NM_001009944.3(PKD1):c.11875G>A (p.Ala3959Thr)
|
|
|
NM_001009944.3(PKD1):c.11875G>C (p.Ala3959Pro)
|
rs756245085
|
|
NM_001009944.3(PKD1):c.11882G>T (p.Arg3961Leu)
|
|
|
NM_001009944.3(PKD1):c.11893C>T (p.Arg3965Cys)
|
|
|
NM_001009944.3(PKD1):c.11905_11916del (p.Gly3969_Arg3972del)
|
|
|
NM_001009944.3(PKD1):c.11906G>C (p.Gly3969Ala)
|
|
|
NM_001009944.3(PKD1):c.11917C>A (p.Arg3973Ser)
|
|
|
NM_001009944.3(PKD1):c.11926A>G (p.Ser3976Gly)
|
|
|
NM_001009944.3(PKD1):c.11927G>T (p.Ser3976Ile)
|
rs1022699284
|
|
NM_001009944.3(PKD1):c.11939T>G (p.Val3980Gly)
|
rs2544597374
|
|
NM_001009944.3(PKD1):c.11948T>C (p.Leu3983Pro)
|
|
|
NM_001009944.3(PKD1):c.11959G>A (p.Ala3987Thr)
|
rs1393724243
|
|
NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys)
|
rs747425659
|
|
NM_001009944.3(PKD1):c.11966G>C (p.Gly3989Ala)
|
|
|
NM_001009944.3(PKD1):c.11988_11996del (p.Phe3996_Leu3998del)
|
rs2544596360
|
|
NM_001009944.3(PKD1):c.1199G>T (p.Arg400Leu)
|
|
|
NM_001009944.3(PKD1):c.12004-11C>T
|
|
|
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.1202-10C>A
|
rs529554291
|
|
NM_001009944.3(PKD1):c.1202-10C>G
|
|
|
NM_001009944.3(PKD1):c.12022T>C (p.Phe4008Leu)
|
|
|
NM_001009944.3(PKD1):c.12025G>C (p.Val4009Leu)
|
|
|
NM_001009944.3(PKD1):c.12029G>T (p.Arg4010Leu)
|
|
|
NM_001009944.3(PKD1):c.12034T>C (p.Trp4012Arg)
|
|
|
NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro)
|
rs1555444981
|
|
NM_001009944.3(PKD1):c.1203G>A (p.Ala401=)
|
|
|
NM_001009944.3(PKD1):c.12047G>C (p.Gly4016Ala)
|
|
|
NM_001009944.3(PKD1):c.12053C>T (p.Thr4018Ile)
|
|
|
NM_001009944.3(PKD1):c.12056_12058del (p.Leu4019del)
|
|
|
NM_001009944.3(PKD1):c.12067C>G (p.Leu4023Val)
|
rs746392681
|
|
NM_001009944.3(PKD1):c.12070C>T (p.Pro4024Ser)
|
rs771494407
|
|
NM_001009944.3(PKD1):c.12078_12080del (p.Leu4027del)
|
|
|
NM_001009944.3(PKD1):c.12097C>G (p.Leu4033Val)
|
rs771603537
|
|
NM_001009944.3(PKD1):c.12105G>A (p.Val4035=)
|
|
|
NM_001009944.3(PKD1):c.12119A>G (p.Tyr4040Cys)
|
rs757297994
|
|
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg)
|
rs767579073
|
|
NM_001009944.3(PKD1):c.12136C>G (p.Leu4046Val)
|
|
|
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe)
|
rs186160250
|
|
NM_001009944.3(PKD1):c.12155T>A (p.Val4052Glu)
|
|
|
NM_001009944.3(PKD1):c.1217G>A (p.Cys406Tyr)
|
rs2544876485
|
|
NM_001009944.3(PKD1):c.121C>T (p.Pro41Ser)
|
|
|
NM_001009944.3(PKD1):c.12205A>G (p.Thr4069Ala)
|
rs765414452
|
|
NM_001009944.3(PKD1):c.12206C>T (p.Thr4069Ile)
|
rs1335991596
|
|
NM_001009944.3(PKD1):c.12218C>G (p.Thr4073Ser)
|
|
|
NM_001009944.3(PKD1):c.12229G>T (p.Ala4077Ser)
|
|
|
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)
|
rs746646395
|
|
NM_001009944.3(PKD1):c.1230G>A (p.Thr410=)
|
|
|
NM_001009944.3(PKD1):c.12313A>G (p.Ile4105Val)
|
|
|
NM_001009944.3(PKD1):c.12319C>T (p.Arg4107Cys)
|
|
|
NM_001009944.3(PKD1):c.12326G>T (p.Arg4109Leu)
|
rs1263418410
|
|
NM_001009944.3(PKD1):c.12329A>T (p.Tyr4110Phe)
|
|
|
NM_001009944.3(PKD1):c.12332A>G (p.His4111Arg)
|
|
|
NM_001009944.3(PKD1):c.12334G>C (p.Ala4112Pro)
|
rs762207724
|
|
NM_001009944.3(PKD1):c.12359C>T (p.Pro4120Leu)
|
|
|
NM_001009944.3(PKD1):c.12369G>A (p.Glu4123=)
|
|
|
NM_001009944.3(PKD1):c.12369G>T (p.Glu4123Asp)
|
|
|
NM_001009944.3(PKD1):c.12370C>A (p.Pro4124Thr)
|
|
|
NM_001009944.3(PKD1):c.12386T>G (p.Met4129Arg)
|
rs2091436717
|
|
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.12396G>C (p.Leu4132Phe)
|
|
|
NM_001009944.3(PKD1):c.12407_12415dup (p.Arg4138_Leu4139insArgLeuArg)
|
rs2544584568
|
|
NM_001009944.3(PKD1):c.12410T>C (p.Leu4137Pro)
|
|
|
NM_001009944.3(PKD1):c.12416_12417delinsCT (p.Leu4139Pro)
|
|
|
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val)
|
rs757407982
|
|
NM_001009944.3(PKD1):c.12431G>C (p.Ser4144Thr)
|
|
|
NM_001009944.3(PKD1):c.12445-5_12451dup
|
|
|
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His)
|
rs36221080
|
|
NM_001009944.3(PKD1):c.12458T>G (p.Val4153Gly)
|
rs2151678778
|
|
NM_001009944.3(PKD1):c.12460C>A (p.Arg4154Ser)
|
|
|
NM_001009944.3(PKD1):c.12464T>A (p.Phe4155Tyr)
|
rs2544581051
|
|
NM_001009944.3(PKD1):c.12464T>C (p.Phe4155Ser)
|
rs2544581051
|
|
NM_001009944.3(PKD1):c.12464T>G (p.Phe4155Cys)
|
|
|
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
|
rs2091413514
|
|
NM_001009944.3(PKD1):c.12478C>T (p.Pro4160Ser)
|
|
|
NM_001009944.3(PKD1):c.12479C>G (p.Pro4160Arg)
|
|
|
NM_001009944.3(PKD1):c.12489dup (p.Arg4164fs)
|
|
|
NM_001009944.3(PKD1):c.1249G>A (p.Gly417Arg)
|
|
|
NM_001009944.3(PKD1):c.12501G>A (p.Arg4167=)
|
|
|
NM_001009944.3(PKD1):c.12509A>G (p.Lys4170Arg)
|
|
|
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)
|
rs1555444225
|
|
NM_001009944.3(PKD1):c.12525G>C (p.Val4175=)
|
|
|
NM_001009944.3(PKD1):c.1253A>C (p.His418Pro)
|
|
|
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.12577C>T (p.Gln4193Ter)
|
rs2544579185
|
|
NM_001009944.3(PKD1):c.1258T>C (p.Tyr420His)
|
|
|
NM_001009944.3(PKD1):c.12602T>C (p.Leu4201Pro)
|
|
|
NM_001009944.3(PKD1):c.12602_12635del (p.Leu4201fs)
|
rs2544578238
|
|
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.12658G>A (p.Glu4220Lys)
|
|
|
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del)
|
rs1596588396
|
|
NM_001009944.3(PKD1):c.12668T>C (p.Leu4223Pro)
|
|
|
NM_001009944.3(PKD1):c.12671C>A (p.Thr4224Asn)
|
|
|
NM_001009944.3(PKD1):c.12701_12702del (p.Glu4234fs)
|
rs1596471547
|
|
NM_001009944.3(PKD1):c.12703G>A (p.Asp4235Asn)
|
|
|
NM_001009944.3(PKD1):c.12716_12724del (p.Leu4239_Gln4241del)
|
|
|
NM_001009944.3(PKD1):c.12725_12756del (p.Gln4242fs)
|
|
|
NM_001009944.3(PKD1):c.12767C>T (p.Ala4256Val)
|
|
|
NM_001009944.3(PKD1):c.12779G>C (p.Arg4260Pro)
|
|
|
NM_001009944.3(PKD1):c.12784C>T (p.Pro4262Ser)
|
|
|
NM_001009944.3(PKD1):c.12791C>T (p.Pro4264Leu)
|
|
|
NM_001009944.3(PKD1):c.12792G>A (p.Pro4264=)
|
|
|
NM_001009944.3(PKD1):c.12794G>A (p.Gly4265Asp)
|
|
|
NM_001009944.3(PKD1):c.12805G>A (p.Ala4269Thr)
|
|
|
NM_001009944.3(PKD1):c.12806C>T (p.Ala4269Val)
|
|
|
NM_001009944.3(PKD1):c.1280C>T (p.Ala427Val)
|
|
|
NM_001009944.3(PKD1):c.12812C>T (p.Pro4271Leu)
|
|
|
NM_001009944.3(PKD1):c.12814_12826del (p.Ser4272fs)
|
|
|
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln)
|
rs1188304476
|
|
NM_001009944.3(PKD1):c.1282_1296del (p.Ala428_Ala432del)
|
rs2544876125
|
|
NM_001009944.3(PKD1):c.12830C>A (p.Ala4277Asp)
|
|
|
NM_001009944.3(PKD1):c.12833G>A (p.Ser4278Asn)
|
|
|
NM_001009944.3(PKD1):c.12835C>T (p.Arg4279Trp)
|
|
|
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.12855T>A (p.Thr4285=)
|
|
|
NM_001009944.3(PKD1):c.12859C>T (p.Pro4287Ser)
|
|
|
NM_001009944.3(PKD1):c.12867_12905dup (p.Ser4301_Ser4302insArgThrProLeuArgAlaLysAsnLysValHisProSer)
|
|
|
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu)
|
rs1567216472
|
|
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)
|
rs777990224
|
|
NM_001009944.3(PKD1):c.12911A>G (p.Ter4304Trp)
|
|
|
NM_001009944.3(PKD1):c.1313C>T (p.Ala438Val)
|
|
|
NM_001009944.3(PKD1):c.1322_1339del (p.Gly441_Met446del)
|
|
|
NM_001009944.3(PKD1):c.1331T>C (p.Leu444Pro)
|
rs2544875911
|
|
NM_001009944.3(PKD1):c.1331T>G (p.Leu444Arg)
|
|
|
NM_001009944.3(PKD1):c.1334C>T (p.Ala445Val)
|
|
|
NM_001009944.3(PKD1):c.1364T>C (p.Phe455Ser)
|
rs2544875788
|
|
NM_001009944.3(PKD1):c.1375C>A (p.Arg459=)
|
|
|
NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys)
|
rs2092659023
|
|
NM_001009944.3(PKD1):c.1386-11C>T
|
|
|
NM_001009944.3(PKD1):c.1386-3C>G
|
|
|
NM_001009944.3(PKD1):c.1388G>A (p.Ser463Asn)
|
|
|
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
|
|
|
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)
|
rs2855341
|
|
NM_001009944.3(PKD1):c.1404C>G (p.Ile468Met)
|
rs755150845
|
|
NM_001009944.3(PKD1):c.1412C>T (p.Ser471Leu)
|
|
|
NM_001009944.3(PKD1):c.1416T>A (p.Thr472=)
|
|
|
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.146T>G (p.Val49Gly)
|
|
|
NM_001009944.3(PKD1):c.149A>G (p.Asn50Ser)
|
|
|
NM_001009944.3(PKD1):c.1501C>T (p.His501Tyr)
|
rs2544872195
|
|
NM_001009944.3(PKD1):c.1516G>A (p.Glu506Lys)
|
|
|
NM_001009944.3(PKD1):c.151T>A (p.Cys51Ser)
|
rs2151858256
|
|
NM_001009944.3(PKD1):c.151T>G (p.Cys51Gly)
|
rs2151858256
|
|
NM_001009944.3(PKD1):c.1525G>A (p.Val509Ile)
|
|
|
NM_001009944.3(PKD1):c.1529G>A (p.Arg510Gln)
|
|
|
NM_001009944.3(PKD1):c.1532T>G (p.Leu511Arg)
|
|
|
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)
|
rs1555458704
|
|
NM_001009944.3(PKD1):c.1544G>T (p.Gly515Val)
|
rs2092647090
|
|
NM_001009944.3(PKD1):c.1558G>A (p.Asp520Asn)
|
rs1418847867
|
|
NM_001009944.3(PKD1):c.1561C>G (p.Leu521Val)
|
|
|
NM_001009944.3(PKD1):c.1564T>G (p.Cys522Gly)
|
rs2544871836
|
|
NM_001009944.3(PKD1):c.1567T>C (p.Ser523Pro)
|
|
|
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.1591G>A (p.Glu531Lys)
|
rs1567215326
|
|
NM_001009944.3(PKD1):c.1606+6C>T
|
|
|
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser)
|
rs1555458683
|
|
NM_001009944.3(PKD1):c.1607-4C>T
|
|
|
NM_001009944.3(PKD1):c.160C>G (p.Arg54Gly)
|
|
|
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.1630CTC[1] (p.Leu545del)
|
rs1596585121
|
|
NM_001009944.3(PKD1):c.1654G>A (p.Asp552Asn)
|
|
|
NM_001009944.3(PKD1):c.1662G>C (p.Gln554His)
|
|
|
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.1706C>T (p.Pro569Leu)
|
|
|
NM_001009944.3(PKD1):c.171_191del (p.Thr58_Arg64del)
|
|
|
NM_001009944.3(PKD1):c.1722+6C>T
|
|
|
NM_001009944.3(PKD1):c.1723-4C>G
|
|
|
NM_001009944.3(PKD1):c.1732T>A (p.Phe578Ile)
|
|
|
NM_001009944.3(PKD1):c.1736C>G (p.Pro579Arg)
|
|
|
NM_001009944.3(PKD1):c.1736C>T (p.Pro579Leu)
|
|
|
NM_001009944.3(PKD1):c.173_193dup (p.Arg64_Ile65insThrLeuGlyProAlaLeuArg)
|
|
|
NM_001009944.3(PKD1):c.1756G>C (p.Glu586Gln)
|
|
|
NM_001009944.3(PKD1):c.1771A>C (p.Thr591Pro)
|
rs2092629735
|
|
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)
|
rs1596582702
|
|
NM_001009944.3(PKD1):c.1787C>A (p.Thr596Asn)
|
rs2544866152
|
|
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.1816C>G (p.Arg606Gly)
|
rs1256105528
|
|
NM_001009944.3(PKD1):c.1817G>C (p.Arg606Pro)
|
rs2092629034
|
|
NM_001009944.3(PKD1):c.1827G>A (p.Val609=)
|
rs905577227
|
|
NM_001009944.3(PKD1):c.1829A>G (p.Tyr610Cys)
|
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.1832G>A (p.Arg611Gln)
|
|
|
NM_001009944.3(PKD1):c.1849+19G>A
|
|
|
NM_001009944.3(PKD1):c.1849G>T (p.Gly617Trp)
|
|
|
NM_001009944.3(PKD1):c.1850-12C>G
|
|
|
NM_001009944.3(PKD1):c.1869C>T (p.Ser623=)
|
|
|
NM_001009944.3(PKD1):c.1870G>A (p.Glu624Lys)
|
|
|
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp)
|
rs763213387
|
|
NM_001009944.3(PKD1):c.1910C>T (p.Ala637Val)
|
rs1324355778
|
|
NM_001009944.3(PKD1):c.1916C>T (p.Ala639Val)
|
|
|
NM_001009944.3(PKD1):c.1919G>A (p.Cys640Tyr)
|
|
|
NM_001009944.3(PKD1):c.1924C>A (p.Pro642Thr)
|
|
|
NM_001009944.3(PKD1):c.1942C>T (p.Pro648Ser)
|
|
|
NM_001009944.3(PKD1):c.1945G>A (p.Gly649Arg)
|
|
|
NM_001009944.3(PKD1):c.1948G>C (p.Ala650Pro)
|
|
|
NM_001009944.3(PKD1):c.1964C>T (p.Pro655Leu)
|
|
|
NM_001009944.3(PKD1):c.1969G>A (p.Asp657Asn)
|
|
|
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
|
rs781018494
|
|
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup)
|
rs1567212718
|
|
NM_001009944.3(PKD1):c.2033C>T (p.Ala678Val)
|
|
|
NM_001009944.3(PKD1):c.2038T>G (p.Tyr680Asp)
|
rs2151816239
|
|
NM_001009944.3(PKD1):c.2079G>C (p.Gly693=)
|
|
|
NM_001009944.3(PKD1):c.2097+5G>A
|
rs2092614616
|
|
NM_001009944.3(PKD1):c.2097G>C (p.Ser699=)
|
rs2544860109
|
|
NM_001009944.3(PKD1):c.2099T>A (p.Val700Asp)
|
|
|
NM_001009944.3(PKD1):c.2100C>G (p.Val700=)
|
|
|
NM_001009944.3(PKD1):c.2102C>A (p.Thr701Asn)
|
rs1456789343
|
|
NM_001009944.3(PKD1):c.2104C>T (p.Leu702Phe)
|
|
|
NM_001009944.3(PKD1):c.2105T>G (p.Leu702Arg)
|
rs1596577674
|
|
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.2139C>A (p.Asp713Glu)
|
rs1487434772
|
|
NM_001009944.3(PKD1):c.2143G>A (p.Val715Ile)
|
|
|
NM_001009944.3(PKD1):c.2143G>T (p.Val715Phe)
|
rs1264766449
|
|
NM_001009944.3(PKD1):c.215+672G>A
|
|
|
NM_001009944.3(PKD1):c.2153A>G (p.Gln718Arg)
|
rs754490344
|
|
NM_001009944.3(PKD1):c.2156A>G (p.His719Arg)
|
|
|
NM_001009944.3(PKD1):c.215T>A (p.Leu72Gln)
|
rs1596636573
|
|
NM_001009944.3(PKD1):c.216-3C>T
|
|
|
NM_001009944.3(PKD1):c.216-8C>G
|
rs1157566139
|
|
NM_001009944.3(PKD1):c.2170G>T (p.Gly724Cys)
|
rs2544856180
|
|
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.2180_2182del (p.Leu727del)
|
|
|
NM_001009944.3(PKD1):c.2189C>T (p.Ser730Leu)
|
|
|
NM_001009944.3(PKD1):c.218A>G (p.Asp73Gly)
|
rs2151826654
|
|
NM_001009944.3(PKD1):c.2195C>T (p.Ala732Val)
|
|
|
NM_001009944.3(PKD1):c.2212C>A (p.Pro738Thr)
|
|
|
NM_001009944.3(PKD1):c.2227C>G (p.Leu743Val)
|
|
|
NM_001009944.3(PKD1):c.2237A>G (p.Asn746Ser)
|
|
|
NM_001009944.3(PKD1):c.224C>A (p.Ser75Tyr)
|
rs2544886187
|
|
NM_001009944.3(PKD1):c.2282C>A (p.Thr761Asn)
|
|
|
NM_001009944.3(PKD1):c.2287G>A (p.Ala763Thr)
|
|
|
NM_001009944.3(PKD1):c.2294C>T (p.Pro765Leu)
|
|
|
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser)
|
rs2092686792
|
|
NM_001009944.3(PKD1):c.2315T>C (p.Leu772Pro)
|
|
|
NM_001009944.3(PKD1):c.231C>A (p.Asn77Lys)
|
|
|
NM_001009944.3(PKD1):c.2320G>A (p.Ala774Thr)
|
|
|
NM_001009944.3(PKD1):c.2335A>G (p.Thr779Ala)
|
|
|
NM_001009944.3(PKD1):c.2338G>A (p.Val780Met)
|
rs780727251
|
|
NM_001009944.3(PKD1):c.2362C>A (p.Pro788Thr)
|
|
|
NM_001009944.3(PKD1):c.236T>C (p.Leu79Pro)
|
|
|
NM_001009944.3(PKD1):c.236T>G (p.Leu79Arg)
|
|
|
NM_001009944.3(PKD1):c.2371C>T (p.Arg791Trp)
|
|
|
NM_001009944.3(PKD1):c.2387A>C (p.Tyr796Ser)
|
|
|
NM_001009944.3(PKD1):c.2405T>A (p.Val802Glu)
|
|
|
NM_001009944.3(PKD1):c.2415C>T (p.Gly805=)
|
|
|
NM_001009944.3(PKD1):c.2421C>G (p.Ser807=)
|
rs2092598341
|
|
NM_001009944.3(PKD1):c.2425C>T (p.His809Tyr)
|
|
|
NM_001009944.3(PKD1):c.2438G>T (p.Cys813Phe)
|
rs2092598008
|
|
NM_001009944.3(PKD1):c.2474G>A (p.Arg825Gln)
|
|
|
NM_001009944.3(PKD1):c.2486C>G (p.Pro829Arg)
|
|
|
NM_001009944.3(PKD1):c.2489C>A (p.Ala830Asp)
|
|
|
NM_001009944.3(PKD1):c.2492C>A (p.Pro831His)
|
rs2544853623
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NM_001009944.3(PKD1):c.2503C>T (p.Arg835Cys)
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NM_001009944.3(PKD1):c.2530G>C (p.Ala844Pro)
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rs1162533695
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NM_001009944.3(PKD1):c.2536G>A (p.Val846Met)
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NM_001009944.3(PKD1):c.2540T>C (p.Leu847Pro)
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rs1596576007
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NM_001009944.3(PKD1):c.2555G>A (p.Gly852Asp)
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NM_001009944.3(PKD1):c.2561A>G (p.Asn854Ser)
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NM_001009944.3(PKD1):c.2563G>A (p.Ala855Thr)
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NM_001009944.3(PKD1):c.2573C>T (p.Thr858Met)
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NM_001009944.3(PKD1):c.25C>A (p.Leu9Met)
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NM_001009944.3(PKD1):c.2602G>T (p.Ala868Ser)
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NM_001009944.3(PKD1):c.2605C>T (p.Arg869Cys)
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NM_001009944.3(PKD1):c.2629C>G (p.Leu877Val)
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NM_001009944.3(PKD1):c.2654G>A (p.Cys885Tyr)
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NM_001009944.3(PKD1):c.2675C>T (p.Thr892Ile)
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NM_001009944.3(PKD1):c.2695C>G (p.Leu899Val)
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NM_001009944.3(PKD1):c.2720ACGTGGTGG[3] (p.Asp910_Val912dup)
|
rs2092591934
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NM_001009944.3(PKD1):c.2722G>A (p.Val908Met)
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NM_001009944.3(PKD1):c.2725G>C (p.Val909Leu)
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NM_001009944.3(PKD1):c.2746A>G (p.Ser916Gly)
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NM_001009944.3(PKD1):c.2781G>A (p.Thr927=)
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NM_001009944.3(PKD1):c.2783C>T (p.Ala928Val)
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NM_001009944.3(PKD1):c.2790G>T (p.Glu930Asp)
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NM_001009944.3(PKD1):c.2830C>T (p.Arg944Cys)
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NM_001009944.3(PKD1):c.2831G>A (p.Arg944His)
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NM_001009944.3(PKD1):c.2853+5G>A
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NM_001009944.3(PKD1):c.2853+5G>C
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rs1287693928
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NM_001009944.3(PKD1):c.2857T>G (p.Tyr953Asp)
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rs2544845376
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NM_001009944.3(PKD1):c.2858A>C (p.Tyr953Ser)
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NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp)
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rs1305213807
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NM_001009944.3(PKD1):c.287+15G>A
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NM_001009944.3(PKD1):c.2879G>T (p.Gly960Val)
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NM_001009944.3(PKD1):c.287T>A (p.Leu96Gln)
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NM_001009944.3(PKD1):c.287T>C (p.Leu96Pro)
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NM_001009944.3(PKD1):c.2882C>G (p.Ser961Trp)
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NM_001009944.3(PKD1):c.2897G>A (p.Arg966Gln)
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NM_001009944.3(PKD1):c.2906T>C (p.Ile969Thr)
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NM_001009944.3(PKD1):c.2914A>G (p.Lys972Glu)
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rs2092566273
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NM_001009944.3(PKD1):c.2927C>G (p.Thr976Ser)
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NM_001009944.3(PKD1):c.2930T>A (p.Phe977Tyr)
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rs1596570459
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NM_001009944.3(PKD1):c.2941G>T (p.Val981Phe)
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NM_001009944.3(PKD1):c.2948A>G (p.Asn983Ser)
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rs753961474
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NM_001009944.3(PKD1):c.295A>C (p.Ser99Arg)
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NM_001009944.3(PKD1):c.2968_2969delinsCT (p.Ala990Leu)
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rs2544844757
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NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del)
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rs2544885084
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NM_001009944.3(PKD1):c.2981T>G (p.Leu994Arg)
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NM_001009944.3(PKD1):c.2983T>A (p.Ser995Thr)
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NM_001009944.3(PKD1):c.2985+3A>C
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NM_001009944.3(PKD1):c.2985+3del
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NM_001009944.3(PKD1):c.2985_2985+3del
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rs1382386686
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NM_001009944.3(PKD1):c.2987T>C (p.Leu996Pro)
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NM_001009944.3(PKD1):c.2990C>T (p.Thr997Met)
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NM_001009944.3(PKD1):c.2996C>G (p.Ser999Cys)
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NM_001009944.3(PKD1):c.2996C>T (p.Ser999Phe)
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NM_001009944.3(PKD1):c.29_40del (p.Ala10_Leu13del)
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rs2544960691
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NM_001009944.3(PKD1):c.2T>A (p.Met1Lys)
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NM_001009944.3(PKD1):c.3006G>A (p.Val1002=)
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NM_001009944.3(PKD1):c.3019G>T (p.Val1007Leu)
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NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp)
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rs2092684149
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NM_001009944.3(PKD1):c.3026A>G (p.Tyr1009Cys)
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NM_001009944.3(PKD1):c.303C>A (p.Asn101Lys)
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rs2092684130
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NM_001009944.3(PKD1):c.3068A>T (p.Gln1023Leu)
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NM_001009944.3(PKD1):c.3070G>A (p.Val1024Ile)
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NM_001009944.3(PKD1):c.3083C>G (p.Pro1028Arg)
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NM_001009944.3(PKD1):c.308T>C (p.Ile103Thr)
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NM_001009944.3(PKD1):c.3100A>T (p.Asn1034Tyr)
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NM_001009944.3(PKD1):c.3104C>T (p.Ala1035Val)
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NM_001009944.3(PKD1):c.3106A>G (p.Thr1036Ala)
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NM_001009944.3(PKD1):c.3113C>A (p.Ala1038Glu)
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NM_001009944.3(PKD1):c.3124G>A (p.Gly1042Ser)
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NM_001009944.3(PKD1):c.3126C>T (p.Gly1042=)
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NM_001009944.3(PKD1):c.3141G>A (p.Ser1047=)
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NM_001009944.3(PKD1):c.3141_3158dup (p.Ala1052_Phe1053insLeuAlaValGluValAla)
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NM_001009944.3(PKD1):c.3145G>T (p.Val1049Leu)
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NM_001009944.3(PKD1):c.3161+5G>A
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rs2092552533
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NM_001009944.3(PKD1):c.3161+6T>G
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NM_001009944.3(PKD1):c.3161T>C (p.Leu1054Pro)
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rs2544840969
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NM_001009944.3(PKD1):c.3162-3C>G
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rs2544837768
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NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser)
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rs2151804604
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NM_001009944.3(PKD1):c.3185A>G (p.Gln1062Arg)
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NM_001009944.3(PKD1):c.320AAG[1] (p.Glu108del)
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NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser)
|
rs2092538545
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NM_001009944.3(PKD1):c.3229G>A (p.Val1077Ile)
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NM_001009944.3(PKD1):c.3239C>T (p.Pro1080Leu)
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rs746334905
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NM_001009944.3(PKD1):c.3244G>A (p.Val1082Met)
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NM_001009944.3(PKD1):c.3268_3270del (p.Asn1090del)
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NM_001009944.3(PKD1):c.3268_3276dup (p.Met1092_His1093insAsnValMet)
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NM_001009944.3(PKD1):c.3277C>G (p.His1093Asp)
|
rs146352591
|
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NM_001009944.3(PKD1):c.3283_3285del (p.Tyr1095del)
|
rs2092536449
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NM_001009944.3(PKD1):c.3296G>A (p.Gly1099Asp)
|
rs754067527
|
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NM_001009944.3(PKD1):c.3304C>G (p.Leu1102Val)
|
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NM_001009944.3(PKD1):c.3308T>G (p.Leu1103Arg)
|
rs2151801930
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NM_001009944.3(PKD1):c.330A>G (p.Ile110Met)
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NM_001009944.3(PKD1):c.3311C>T (p.Thr1104Ile)
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NM_001009944.3(PKD1):c.3313G>A (p.Val1105Met)
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NM_001009944.3(PKD1):c.3317T>C (p.Leu1106Pro)
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NM_001009944.3(PKD1):c.3331_3333del (p.Phe1111del)
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NM_001009944.3(PKD1):c.3338A>G (p.Asn1113Ser)
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NM_001009944.3(PKD1):c.3341T>C (p.Leu1114Pro)
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NM_001009944.3(PKD1):c.3341T>G (p.Leu1114Arg)
|
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NM_001009944.3(PKD1):c.3384C>A (p.Ser1128=)
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NM_001009944.3(PKD1):c.3405C>G (p.Asp1135Glu)
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NM_001009944.3(PKD1):c.3409G>C (p.Val1137Leu)
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NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del)
|
rs1060499705
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NM_001009944.3(PKD1):c.3418G>C (p.Ala1140Pro)
|
rs1229555987
|
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NM_001009944.3(PKD1):c.3425G>A (p.Arg1142Gln)
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NM_001009944.3(PKD1):c.3442C>G (p.Pro1148Ala)
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NM_001009944.3(PKD1):c.3446A>T (p.His1149Leu)
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NM_001009944.3(PKD1):c.3467G>C (p.Gly1156Ala)
|
rs758919377
|
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NM_001009944.3(PKD1):c.3479C>T (p.Thr1160Met)
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NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys)
|
rs1483748105
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NM_001009944.3(PKD1):c.3487T>G (p.Phe1163Val)
|
|
|
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)
|
rs2151801188
|
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NM_001009944.3(PKD1):c.3494A>T (p.Asp1165Val)
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NM_001009944.3(PKD1):c.3516G>C (p.Gln1172His)
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NM_001009944.3(PKD1):c.352A>G (p.Ser118Gly)
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NM_001009944.3(PKD1):c.3535C>A (p.His1179Asn)
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NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu)
|
rs551162125
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NM_001009944.3(PKD1):c.3551G>A (p.Arg1184Lys)
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NM_001009944.3(PKD1):c.3554G>T (p.Gly1185Val)
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NM_001009944.3(PKD1):c.3556A>T (p.Thr1186Ser)
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NM_001009944.3(PKD1):c.355G>A (p.Glu119Lys)
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NM_001009944.3(PKD1):c.3560A>C (p.Tyr1187Ser)
|
rs2544829830
|
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NM_001009944.3(PKD1):c.3565G>A (p.Val1189Met)
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|
NM_001009944.3(PKD1):c.3569G>A (p.Arg1190His)
|
rs140152387
|
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NM_001009944.3(PKD1):c.3570C>T (p.Arg1190=)
|
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NM_001009944.3(PKD1):c.3571C>G (p.Leu1191Val)
|
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NM_001009944.3(PKD1):c.3587C>T (p.Thr1196Met)
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NM_001009944.3(PKD1):c.359+5G>A
|
rs2092683412
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NM_001009944.3(PKD1):c.3599C>T (p.Ala1200Val)
|
rs753833996
|
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NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)
|
rs1555459345
|
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NM_001009944.3(PKD1):c.3611C>A (p.Ala1204Glu)
|
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NM_001009944.3(PKD1):c.3613G>C (p.Asp1205His)
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NM_001009944.3(PKD1):c.3619C>T (p.Arg1207Cys)
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NM_001009944.3(PKD1):c.363C>T (p.Asn121=)
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NM_001009944.3(PKD1):c.3644T>G (p.Leu1215Arg)
|
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NM_001009944.3(PKD1):c.3655A>C (p.Met1219Leu)
|
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|
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
|
rs139100448
|
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NM_001009944.3(PKD1):c.365T>C (p.Leu122Pro)
|
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|
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met)
|
rs749092859
|
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NM_001009944.3(PKD1):c.3668T>C (p.Val1223Ala)
|
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|
NM_001009944.3(PKD1):c.3679G>A (p.Ala1227Thr)
|
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NM_001009944.3(PKD1):c.3680C>T (p.Ala1227Val)
|
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NM_001009944.3(PKD1):c.3698C>G (p.Ala1233Gly)
|
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|
NM_001009944.3(PKD1):c.3700G>A (p.Ala1234Thr)
|
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NM_001009944.3(PKD1):c.3704T>A (p.Val1235Glu)
|
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NM_001009944.3(PKD1):c.3704T>C (p.Val1235Ala)
|
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NM_001009944.3(PKD1):c.3715G>A (p.Asp1239Asn)
|
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|
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly)
|
rs2151800134
|
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NM_001009944.3(PKD1):c.3728G>C (p.Trp1243Ser)
|
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|
NM_001009944.3(PKD1):c.3730A>C (p.Thr1244Pro)
|
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|
NM_001009944.3(PKD1):c.3741G>T (p.Met1247Ile)
|
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|
NM_001009944.3(PKD1):c.3743G>A (p.Gly1248Glu)
|
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NM_001009944.3(PKD1):c.3743G>C (p.Gly1248Ala)
|
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|
NM_001009944.3(PKD1):c.3745G>A (p.Asp1249Asn)
|
rs2544828142
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NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala)
|
rs2092501507
|
|
NM_001009944.3(PKD1):c.3748G>A (p.Gly1250Ser)
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NM_001009944.3(PKD1):c.3754G>A (p.Val1252Met)
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NM_001009944.3(PKD1):c.3755T>C (p.Val1252Ala)
|
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|
NM_001009944.3(PKD1):c.3762G>A (p.Ser1254=)
|
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|
NM_001009944.3(PKD1):c.3785A>C (p.His1262Pro)
|
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|
NM_001009944.3(PKD1):c.3792C>T (p.Tyr1264=)
|
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|
NM_001009944.3(PKD1):c.3797G>A (p.Arg1266Gln)
|
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|
NM_001009944.3(PKD1):c.3803A>T (p.Gln1268Leu)
|
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|
NM_001009944.3(PKD1):c.3809G>A (p.Cys1270Tyr)
|
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|
NM_001009944.3(PKD1):c.3814G>C (p.Val1272Leu)
|
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|
NM_001009944.3(PKD1):c.3823G>A (p.Gly1275Ser)
|
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|
NM_001009944.3(PKD1):c.3830C>T (p.Ala1277Val)
|
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|
NM_001009944.3(PKD1):c.3833G>T (p.Ser1278Ile)
|
|
|
NM_001009944.3(PKD1):c.3838G>A (p.Ala1280Thr)
|
|
|
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro)
|
rs2544827223
|
|
NM_001009944.3(PKD1):c.387T>G (p.Cys129Trp)
|
|
|
NM_001009944.3(PKD1):c.3890T>C (p.Leu1297Pro)
|
|
|
NM_001009944.3(PKD1):c.3890_3891insCAC (p.Leu1297_Arg1298insThr)
|
rs1567202189
|
|
NM_001009944.3(PKD1):c.3893G>A (p.Arg1298His)
|
rs536743722
|
|
NM_001009944.3(PKD1):c.3895G>A (p.Val1299Ile)
|
|
|
NM_001009944.3(PKD1):c.3895G>C (p.Val1299Leu)
|
|
|
NM_001009944.3(PKD1):c.3898G>C (p.Glu1300Gln)
|
|
|
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro)
|
rs2092941758
|
|
NM_001009944.3(PKD1):c.3902C>G (p.Pro1301Arg)
|
rs2544826889
|
|
NM_001009944.3(PKD1):c.3902C>T (p.Pro1301Leu)
|
rs2544826889
|
|
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.3941C>T (p.Thr1314Met)
|
|
|
NM_001009944.3(PKD1):c.3944C>A (p.Ala1315Asp)
|
rs762953714
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.3971A>G (p.Tyr1324Cys)
|
rs2544826149
|
|
NM_001009944.3(PKD1):c.3973C>T (p.Leu1325Phe)
|
|
|
NM_001009944.3(PKD1):c.3974T>C (p.Leu1325Pro)
|
|
|
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser)
|
rs2092493397
|
|
NM_001009944.3(PKD1):c.3986C>T (p.Thr1329Ile)
|
|
|
NM_001009944.3(PKD1):c.4001C>T (p.Ser1334Phe)
|
|
|
NM_001009944.3(PKD1):c.4006A>C (p.Asn1336His)
|
|
|
NM_001009944.3(PKD1):c.4010C>T (p.Thr1337Met)
|
|
|
NM_001009944.3(PKD1):c.4021G>A (p.Gly1341Arg)
|
|
|
NM_001009944.3(PKD1):c.4031C>T (p.Thr1344Met)
|
|
|
NM_001009944.3(PKD1):c.4039C>T (p.His1347Tyr)
|
|
|
NM_001009944.3(PKD1):c.4042_4044del (p.Asn1348del)
|
|
|
NM_001009944.3(PKD1):c.4043A>G (p.Asn1348Ser)
|
|
|
NM_001009944.3(PKD1):c.4047C>G (p.Phe1349Leu)
|
rs770459654
|
|
NM_001009944.3(PKD1):c.4049C>A (p.Thr1350Lys)
|
|
|
NM_001009944.3(PKD1):c.4057G>T (p.Gly1353Cys)
|
|
|
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys)
|
rs2092679535
|
|
NM_001009944.3(PKD1):c.4063T>A (p.Phe1355Ile)
|
|
|
NM_001009944.3(PKD1):c.4066C>T (p.Pro1356Ser)
|
|
|
NM_001009944.3(PKD1):c.4076T>C (p.Leu1359Pro)
|
rs2544825186
|
|
NM_001009944.3(PKD1):c.4077G>T (p.Leu1359=)
|
|
|
NM_001009944.3(PKD1):c.407T>A (p.Leu136Gln)
|
rs2544883206
|
|
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro)
|
rs2092490160
|
|
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.40GGCCTG[3] (p.Leu17_Trp18insGlyLeu)
|
|
|
NM_001009944.3(PKD1):c.4101_4118del (p.Arg1367_Thr1372del)
|
rs2092489106
|
|
NM_001009944.3(PKD1):c.4105C>G (p.His1369Asp)
|
|
|
NM_001009944.3(PKD1):c.4115C>T (p.Thr1372Ile)
|
|
|
NM_001009944.3(PKD1):c.4120_4122del (p.Ile1374del)
|
|
|
NM_001009944.3(PKD1):c.4121T>A (p.Ile1374Asn)
|
rs2544824821
|
|
NM_001009944.3(PKD1):c.4126G>C (p.Val1376Leu)
|
|
|
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly)
|
rs149210297
|
|
NM_001009944.3(PKD1):c.4138_4164del (p.Val1380_Glu1388del)
|
rs2544824510
|
|
NM_001009944.3(PKD1):c.4154T>G (p.Leu1385Arg)
|
|
|
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
|
rs2544883158
|
|
NM_001009944.3(PKD1):c.4171T>C (p.Phe1391Leu)
|
|
|
NM_001009944.3(PKD1):c.4183G>A (p.Gly1395Arg)
|
|
|
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val)
|
rs1413875287
|
|
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln)
|
|
|
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.424G>A (p.Glu142Lys)
|
|
|
NM_001009944.3(PKD1):c.4253C>G (p.Thr1418Ser)
|
|
|
NM_001009944.3(PKD1):c.4257G>C (p.Glu1419Asp)
|
|
|
NM_001009944.3(PKD1):c.4265C>A (p.Ala1422Asp)
|
|
|
NM_001009944.3(PKD1):c.4274G>T (p.Arg1425Leu)
|
|
|
NM_001009944.3(PKD1):c.4279A>G (p.Arg1427Gly)
|
|
|
NM_001009944.3(PKD1):c.427C>G (p.Gln143Glu)
|
|
|
NM_001009944.3(PKD1):c.4303T>G (p.Tyr1435Asp)
|
|
|
NM_001009944.3(PKD1):c.4304A>G (p.Tyr1435Cys)
|
|
|
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.436C>G (p.Arg146Gly)
|
|
|
NM_001009944.3(PKD1):c.4370C>T (p.Ser1457Leu)
|
|
|
NM_001009944.3(PKD1):c.437G>C (p.Arg146Pro)
|
|
|
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.4448A>C (p.Gln1483Pro)
|
|
|
NM_001009944.3(PKD1):c.4457T>C (p.Leu1486Pro)
|
|
|
NM_001009944.3(PKD1):c.4459T>C (p.Phe1487Leu)
|
|
|
NM_001009944.3(PKD1):c.4460T>C (p.Phe1487Ser)
|
|
|
NM_001009944.3(PKD1):c.4462T>A (p.Ser1488Thr)
|
|
|
NM_001009944.3(PKD1):c.4466C>T (p.Ala1489Val)
|
|
|
NM_001009944.3(PKD1):c.4493A>C (p.Tyr1498Ser)
|
|
|
NM_001009944.3(PKD1):c.4493A>G (p.Tyr1498Cys)
|
rs2544821178
|
|
NM_001009944.3(PKD1):c.44T>G (p.Leu15Arg)
|
|
|
NM_001009944.3(PKD1):c.4500G>C (p.Trp1500Cys)
|
rs773515214
|
|
NM_001009944.3(PKD1):c.4506G>A (p.Leu1502=)
|
|
|
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg)
|
rs2092478372
|
|
NM_001009944.3(PKD1):c.4531C>A (p.Pro1511Thr)
|
|
|
NM_001009944.3(PKD1):c.453G>C (p.Glu151Asp)
|
|
|
NM_001009944.3(PKD1):c.4543C>G (p.His1515Asp)
|
|
|
NM_001009944.3(PKD1):c.4544A>C (p.His1515Pro)
|
rs2092477293
|
|
NM_001009944.3(PKD1):c.4551C>T (p.Tyr1517=)
|
|
|
NM_001009944.3(PKD1):c.4572_4574del (p.Val1525del)
|
rs2544820567
|
|
NM_001009944.3(PKD1):c.4573G>A (p.Val1525Ile)
|
|
|
NM_001009944.3(PKD1):c.4577G>C (p.Arg1526Thr)
|
|
|
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.4601_4602delinsTT (p.Ser1534Ile)
|
rs1596558469
|
|
NM_001009944.3(PKD1):c.4619T>C (p.Leu1540Pro)
|
|
|
NM_001009944.3(PKD1):c.4625T>G (p.Val1542Gly)
|
rs2092475450
|
|
NM_001009944.3(PKD1):c.4628C>T (p.Thr1543Met)
|
|
|
NM_001009944.3(PKD1):c.4629G>A (p.Thr1543=)
|
|
|
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)
|
rs2544820023
|
|
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly)
|
rs1555455904
|
|
NM_001009944.3(PKD1):c.4640G>A (p.Arg1547His)
|
|
|
NM_001009944.3(PKD1):c.4646G>C (p.Arg1549Pro)
|
rs530555146
|
|
NM_001009944.3(PKD1):c.464G>A (p.Cys155Tyr)
|
|
|
NM_001009944.3(PKD1):c.4651C>T (p.Leu1551Phe)
|
|
|
NM_001009944.3(PKD1):c.4665A>T (p.Ala1555=)
|
|
|
NM_001009944.3(PKD1):c.4667G>C (p.Ser1556Thr)
|
|
|
NM_001009944.3(PKD1):c.4670G>T (p.Arg1557Leu)
|
|
|
NM_001009944.3(PKD1):c.4691G>T (p.Gly1564Val)
|
|
|
NM_001009944.3(PKD1):c.4704C>A (p.Phe1568Leu)
|
|
|
NM_001009944.3(PKD1):c.4709C>G (p.Thr1570Arg)
|
|
|
NM_001009944.3(PKD1):c.4712C>T (p.Ser1571Leu)
|
|
|
NM_001009944.3(PKD1):c.4766C>T (p.Thr1589Met)
|
|
|
NM_001009944.3(PKD1):c.4774C>T (p.Pro1592Ser)
|
|
|
NM_001009944.3(PKD1):c.4781G>T (p.Gly1594Val)
|
rs1754104193
|
|
NM_001009944.3(PKD1):c.4793C>T (p.Ser1598Phe)
|
|
|
NM_001009944.3(PKD1):c.4799C>G (p.Thr1600Ser)
|
|
|
NM_001009944.3(PKD1):c.4799C>T (p.Thr1600Ile)
|
|
|
NM_001009944.3(PKD1):c.4824_4826dup (p.Ile1610dup)
|
rs2151796171
|
|
NM_001009944.3(PKD1):c.4825A>G (p.Ile1609Val)
|
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.4831G>T (p.Val1611Phe)
|
|
|
NM_001009944.3(PKD1):c.4838C>A (p.Ala1613Asp)
|
|
|
NM_001009944.3(PKD1):c.4840G>A (p.Glu1614Lys)
|
|
|
NM_001009944.3(PKD1):c.4846G>A (p.Glu1616Lys)
|
|
|
NM_001009944.3(PKD1):c.4850T>C (p.Val1617Ala)
|
|
|
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.4894A>T (p.Ile1632Leu)
|
|
|
NM_001009944.3(PKD1):c.4922G>T (p.Gly1641Val)
|
|
|
NM_001009944.3(PKD1):c.4923C>T (p.Gly1641=)
|
|
|
NM_001009944.3(PKD1):c.4924C>T (p.Arg1642Cys)
|
|
|
NM_001009944.3(PKD1):c.4947G>A (p.Thr1649=)
|
|
|
NM_001009944.3(PKD1):c.497T>C (p.Leu166Pro)
|
|
|
NM_001009944.3(PKD1):c.4981A>G (p.Asn1661Asp)
|
|
|
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile)
|
rs766683298
|
|
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)
|
rs1596556896
|
|
NM_001009944.3(PKD1):c.4995C>G (p.Ser1665Arg)
|
|
|
NM_001009944.3(PKD1):c.4996T>C (p.Trp1666Arg)
|
|
|
NM_001009944.3(PKD1):c.5002G>C (p.Ala1668Pro)
|
|
|
NM_001009944.3(PKD1):c.5012_5017del (p.Asp1671_Arg1672del)
|
|
|
NM_001009944.3(PKD1):c.5031C>T (p.Ala1677=)
|
rs551270517
|
|
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg)
|
rs144091742
|
|
NM_001009944.3(PKD1):c.5042A>G (p.Lys1681Arg)
|
|
|
NM_001009944.3(PKD1):c.5078A>C (p.Tyr1693Ser)
|
|
|
NM_001009944.3(PKD1):c.5099C>G (p.Thr1700Ser)
|
|
|
NM_001009944.3(PKD1):c.5108T>C (p.Leu1703Pro)
|
rs1596556474
|
|
NM_001009944.3(PKD1):c.5116G>C (p.Ala1706Pro)
|
|
|
NM_001009944.3(PKD1):c.5143G>A (p.Val1715Met)
|
|
|
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.5207_5209delinsGCC (p.Val1736_Thr1737delinsGlyPro)
|
rs2544814037
|
|
NM_001009944.3(PKD1):c.5213T>G (p.Leu1738Arg)
|
|
|
NM_001009944.3(PKD1):c.521G>C (p.Ser174Thr)
|
|
|
NM_001009944.3(PKD1):c.5244C>G (p.Val1748=)
|
|
|
NM_001009944.3(PKD1):c.5245G>C (p.Val1749Leu)
|
|
|
NM_001009944.3(PKD1):c.5249A>G (p.Tyr1750Cys)
|
|
|
NM_001009944.3(PKD1):c.5254T>C (p.Trp1752Arg)
|
rs2151794130
|
|
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu)
|
rs770462764
|
|
NM_001009944.3(PKD1):c.5287T>C (p.Ser1763Pro)
|
|
|
NM_001009944.3(PKD1):c.529+19G>T
|
|
|
NM_001009944.3(PKD1):c.52T>C (p.Trp18Arg)
|
|
|
NM_001009944.3(PKD1):c.530-4C>G
|
|
|
NM_001009944.3(PKD1):c.5301C>T (p.Thr1767=)
|
|
|
NM_001009944.3(PKD1):c.5305C>T (p.His1769Tyr)
|
|
|
NM_001009944.3(PKD1):c.5307T>G (p.His1769Gln)
|
rs575064371
|
|
NM_001009944.3(PKD1):c.5321C>A (p.Pro1774His)
|
|
|
NM_001009944.3(PKD1):c.5330A>C (p.His1777Pro)
|
|
|
NM_001009944.3(PKD1):c.5339C>T (p.Thr1780Ile)
|
|
|
NM_001009944.3(PKD1):c.5341A>G (p.Met1781Val)
|
|
|
NM_001009944.3(PKD1):c.5346G>A (p.Thr1782=)
|
|
|
NM_001009944.3(PKD1):c.5347G>A (p.Ala1783Thr)
|
|
|
NM_001009944.3(PKD1):c.5351G>A (p.Gly1784Glu)
|
|
|
NM_001009944.3(PKD1):c.5357C>A (p.Pro1786Gln)
|
|
|
NM_001009944.3(PKD1):c.5369C>T (p.Ala1790Val)
|
|
|
NM_001009944.3(PKD1):c.5414T>A (p.Leu1805His)
|
|
|
NM_001009944.3(PKD1):c.5416A>G (p.Ser1806Gly)
|
|
|
NM_001009944.3(PKD1):c.5445C>A (p.Ser1815Arg)
|
|
|
NM_001009944.3(PKD1):c.5462C>T (p.Ser1821Phe)
|
rs2092450904
|
|
NM_001009944.3(PKD1):c.5465C>G (p.Ser1822Cys)
|
|
|
NM_001009944.3(PKD1):c.548G>T (p.Cys183Phe)
|
|
|
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser)
|
rs2151792963
|
|
NM_001009944.3(PKD1):c.5497A>C (p.Thr1833Pro)
|
rs1475056804
|
|
NM_001009944.3(PKD1):c.5508C>G (p.Ser1836Arg)
|
|
|
NM_001009944.3(PKD1):c.5509T>G (p.Trp1837Gly)
|
|
|
NM_001009944.3(PKD1):c.550C>G (p.Leu184Val)
|
|
|
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
|
|
|
NM_001009944.3(PKD1):c.5530G>C (p.Gly1844Arg)
|
|
|
NM_001009944.3(PKD1):c.554C>T (p.Pro185Leu)
|
|
|
NM_001009944.3(PKD1):c.5554G>A (p.Val1852Ile)
|
|
|
NM_001009944.3(PKD1):c.5558C>T (p.Thr1853Ile)
|
|
|
NM_001009944.3(PKD1):c.5560A>C (p.Met1854Leu)
|
|
|
NM_001009944.3(PKD1):c.5569C>T (p.Pro1857Ser)
|
|
|
NM_001009944.3(PKD1):c.5580C>T (p.Gly1860=)
|
|
|
NM_001009944.3(PKD1):c.5592C>G (p.Ile1864Met)
|
|
|
NM_001009944.3(PKD1):c.5594G>C (p.Arg1865Pro)
|
|
|
NM_001009944.3(PKD1):c.5600A>C (p.Asn1867Thr)
|
|
|
NM_001009944.3(PKD1):c.5606C>G (p.Ser1869Cys)
|
|
|
NM_001009944.3(PKD1):c.5615T>G (p.Val1872Gly)
|
rs2544811105
|
|
NM_001009944.3(PKD1):c.5620T>G (p.Trp1874Gly)
|
|
|
NM_001009944.3(PKD1):c.5639A>T (p.Asn1880Ile)
|
rs547194096
|
|
NM_001009944.3(PKD1):c.5662G>A (p.Val1888Met)
|
|
|
NM_001009944.3(PKD1):c.5712G>T (p.Leu1904=)
|
|
|
NM_001009944.3(PKD1):c.5715C>G (p.Val1905=)
|
|
|
NM_001009944.3(PKD1):c.5731C>G (p.Leu1911Val)
|
|
|
NM_001009944.3(PKD1):c.5740G>A (p.Gly1914Ser)
|
|
|
NM_001009944.3(PKD1):c.5756T>C (p.Phe1919Ser)
|
rs2544809840
|
|
NM_001009944.3(PKD1):c.5758C>G (p.Arg1920Gly)
|
|
|
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.5804G>C (p.Arg1935Pro)
|
rs770331568
|
|
NM_001009944.3(PKD1):c.5812C>T (p.His1938Tyr)
|
|
|
NM_001009944.3(PKD1):c.5820C>G (p.Phe1940Leu)
|
|
|
NM_001009944.3(PKD1):c.5825G>A (p.Arg1942His)
|
|
|
NM_001009944.3(PKD1):c.5836C>T (p.His1946Tyr)
|
|
|
NM_001009944.3(PKD1):c.5839G>A (p.Val1947Met)
|
|
|
NM_001009944.3(PKD1):c.5839GTG[1] (p.Val1948del)
|
rs2544808543
|
|
NM_001009944.3(PKD1):c.5848G>A (p.Val1950Met)
|
rs771669643
|
|
NM_001009944.3(PKD1):c.5848G>C (p.Val1950Leu)
|
|
|
NM_001009944.3(PKD1):c.5857A>G (p.Lys1953Glu)
|
|
|
NM_001009944.3(PKD1):c.5863_5865del (p.His1955del)
|
rs2544808284
|
|
NM_001009944.3(PKD1):c.5865C>A (p.His1955Gln)
|
rs145225830
|
|
NM_001009944.3(PKD1):c.5866G>A (p.Val1956Met)
|
|
|
NM_001009944.3(PKD1):c.5866G>T (p.Val1956Leu)
|
rs781454286
|
|
NM_001009944.3(PKD1):c.5871C>G (p.Ser1957Arg)
|
|
|
NM_001009944.3(PKD1):c.587C>T (p.Ser196Phe)
|
|
|
NM_001009944.3(PKD1):c.5893A>G (p.Ile1965Val)
|
|
|
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del)
|
rs1555454847
|
|
NM_001009944.3(PKD1):c.590T>G (p.Phe197Cys)
|
|
|
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.5953G>A (p.Ala1985Thr)
|
rs771005067
|
|
NM_001009944.3(PKD1):c.5958G>A (p.Thr1986=)
|
|
|
NM_001009944.3(PKD1):c.5972A>G (p.Asn1991Ser)
|
|
|
NM_001009944.3(PKD1):c.5987T>G (p.Val1996Gly)
|
rs1596553257
|
|
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.6011A>G (p.Tyr2004Cys)
|
rs2544806761
|
|
NM_001009944.3(PKD1):c.6011_6016del (p.Tyr2004_Ala2005del)
|
rs2092436949
|
|
NM_001009944.3(PKD1):c.6024C>G (p.Phe2008Leu)
|
|
|
NM_001009944.3(PKD1):c.6025T>C (p.Ser2009Pro)
|
rs2092436796
|
|
NM_001009944.3(PKD1):c.6026C>G (p.Ser2009Trp)
|
|
|
NM_001009944.3(PKD1):c.6077T>A (p.Val2026Asp)
|
rs2544806221
|
|
NM_001009944.3(PKD1):c.6083A>C (p.Tyr2028Ser)
|
|
|
NM_001009944.3(PKD1):c.6083A>G (p.Tyr2028Cys)
|
rs2092435288
|
|
NM_001009944.3(PKD1):c.6089C>A (p.Pro2030His)
|
rs2544806086
|
|
NM_001009944.3(PKD1):c.6116A>C (p.Gln2039Pro)
|
rs2092434606
|
|
NM_001009944.3(PKD1):c.6119T>G (p.Val2040Gly)
|
|
|
NM_001009944.3(PKD1):c.6131A>G (p.Asn2044Ser)
|
rs2544805619
|
|
NM_001009944.3(PKD1):c.6131A>T (p.Asn2044Ile)
|
|
|
NM_001009944.3(PKD1):c.6132C>A (p.Asn2044Lys)
|
|
|
NM_001009944.3(PKD1):c.6137T>C (p.Leu2046Pro)
|
|
|
NM_001009944.3(PKD1):c.6145G>C (p.Glu2049Gln)
|
|
|
NM_001009944.3(PKD1):c.6148A>T (p.Asn2050Tyr)
|
|
|
NM_001009944.3(PKD1):c.6151C>T (p.Arg2051Cys)
|
|
|
NM_001009944.3(PKD1):c.6157C>G (p.Leu2053Val)
|
|
|
NM_001009944.3(PKD1):c.6167_6169dup (p.Glu2056_Val2057insGlu)
|
|
|
NM_001009944.3(PKD1):c.6179C>G (p.Ala2060Gly)
|
rs753999046
|
|
NM_001009944.3(PKD1):c.6185A>G (p.Gln2062Arg)
|
|
|
NM_001009944.3(PKD1):c.6191T>A (p.Val2064Glu)
|
rs2544804974
|
|
NM_001009944.3(PKD1):c.6192G>T (p.Val2064=)
|
|
|
NM_001009944.3(PKD1):c.6196_6205delinsT (p.Leu2066_Gly2069delinsCys)
|
|
|
NM_001009944.3(PKD1):c.6208C>T (p.Pro2070Ser)
|
|
|
NM_001009944.3(PKD1):c.6212G>C (p.Cys2071Ser)
|
|
|
NM_001009944.3(PKD1):c.6218_6220del (p.Thr2073del)
|
|
|
NM_001009944.3(PKD1):c.6233A>G (p.Gln2078Arg)
|
|
|
NM_001009944.3(PKD1):c.6236T>C (p.Phe2079Ser)
|
|
|
NM_001009944.3(PKD1):c.6245C>T (p.Ala2082Val)
|
|
|
NM_001009944.3(PKD1):c.6250AGCCCC[3] (p.Pro2087_Arg2088insSerPro)
|
|
|
NM_001009944.3(PKD1):c.6250_6252del (p.Ser2084del)
|
|
|
NM_001009944.3(PKD1):c.6254C>G (p.Pro2085Arg)
|
|
|
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.6287T>C (p.Phe2096Ser)
|
rs1596552090
|
|
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly)
|
rs2151788839
|
|
NM_001009944.3(PKD1):c.6298_6299delinsCT (p.Ser2100Leu)
|
|
|
NM_001009944.3(PKD1):c.6298_6306del (p.Ser2100_Gly2102del)
|
|
|
NM_001009944.3(PKD1):c.6302C>A (p.Pro2101Gln)
|
|
|
NM_001009944.3(PKD1):c.6322C>A (p.Pro2108Thr)
|
|
|
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro)
|
rs1596551934
|
|
NM_001009944.3(PKD1):c.6340T>C (p.Tyr2114His)
|
|
|
NM_001009944.3(PKD1):c.6346A>T (p.Arg2116Trp)
|
|
|
NM_001009944.3(PKD1):c.6361C>A (p.Arg2121Ser)
|
|
|
NM_001009944.3(PKD1):c.6365T>A (p.Val2122Glu)
|
|
|
NM_001009944.3(PKD1):c.6370G>T (p.Val2124Leu)
|
|
|
NM_001009944.3(PKD1):c.6380_6397dup (p.Phe2132_Phe2133insSerAsnLeuValSerPhe)
|
rs2544803389
|
|
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp)
|
rs2151788281
|
|
NM_001009944.3(PKD1):c.6383A>C (p.Asn2128Thr)
|
|
|
NM_001009944.3(PKD1):c.6383A>G (p.Asn2128Ser)
|
rs2544803461
|
|
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.6413C>T (p.Thr2138Met)
|
|
|
NM_001009944.3(PKD1):c.641G>T (p.Cys214Phe)
|
|
|
NM_001009944.3(PKD1):c.6430C>G (p.Leu2144Val)
|
|
|
NM_001009944.3(PKD1):c.648C>T (p.Ser216=)
|
|
|
NM_001009944.3(PKD1):c.6491C>T (p.Ser2164Leu)
|
|
|
NM_001009944.3(PKD1):c.6497G>T (p.Arg2166Leu)
|
|
|
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp)
|
rs2151787670
|
|
NM_001009944.3(PKD1):c.6512C>A (p.Ala2171Asp)
|
rs755655916
|
|
NM_001009944.3(PKD1):c.6512C>T (p.Ala2171Val)
|
rs755655916
|
|
NM_001009944.3(PKD1):c.6518T>C (p.Val2173Ala)
|
|
|
NM_001009944.3(PKD1):c.6526C>T (p.Arg2176Cys)
|
|
|
NM_001009944.3(PKD1):c.6532T>C (p.Cys2178Arg)
|
rs1358817073
|
|
NM_001009944.3(PKD1):c.6535G>A (p.Val2179Ile)
|
|
|
NM_001009944.3(PKD1):c.6552G>T (p.Glu2184Asp)
|
|
|
NM_001009944.3(PKD1):c.6553T>G (p.Tyr2185Asp)
|
rs2544802347
|
|
NM_001009944.3(PKD1):c.6561G>C (p.Trp2187Cys)
|
rs867422468
|
|
NM_001009944.3(PKD1):c.6561G>T (p.Trp2187Cys)
|
rs867422468
|
|
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)
|
rs765511448
|
|
NM_001009944.3(PKD1):c.6631G>A (p.Val2211Met)
|
|
|
NM_001009944.3(PKD1):c.6638G>C (p.Arg2213Pro)
|
rs751540966
|
|
NM_001009944.3(PKD1):c.6640C>T (p.Pro2214Ser)
|
rs1567191971
|
|
NM_001009944.3(PKD1):c.6642_6656del (p.Val2217_Leu2221del)
|
|
|
NM_001009944.3(PKD1):c.6644G>A (p.Arg2215Gln)
|
|
|
NM_001009944.3(PKD1):c.6650_6664del (p.Val2217_Leu2221del)
|
|
|
NM_001009944.3(PKD1):c.6655_6663del (p.Pro2219_Leu2221del)
|
|
|
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)
|
rs2151786683
|
|
NM_001009944.3(PKD1):c.6657_6671dup (p.Arg2220_Pro2224dup)
|
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)
|
rs2544880420
|
|
NM_001009944.3(PKD1):c.6680ACT[3] (p.Tyr2228_Cys2229insTyr)
|
|
|
NM_001009944.3(PKD1):c.6683A>C (p.Tyr2228Ser)
|
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
NM_001009944.3(PKD1):c.6700G>T (p.Val2234Leu)
|
rs762322536
|
|
NM_001009944.3(PKD1):c.6709G>C (p.Gly2237Arg)
|
|
|
NM_001009944.3(PKD1):c.6729G>C (p.Gln2243His)
|
|
|
NM_001009944.3(PKD1):c.6729G>T (p.Gln2243His)
|
rs1473861956
|
|
NM_001009944.3(PKD1):c.6733A>T (p.Ile2245Phe)
|
|
|
NM_001009944.3(PKD1):c.6735C>G (p.Ile2245Met)
|
|
|
NM_001009944.3(PKD1):c.6739G>C (p.Ala2247Pro)
|
rs749515571
|
|
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu)
|
rs1555454223
|
|
NM_001009944.3(PKD1):c.6748A>T (p.Thr2250Ser)
|
|
|
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.675G>C (p.Ser225=)
|
|
|
NM_001009944.3(PKD1):c.6763C>T (p.Arg2255Cys)
|
rs199803853
|
|
NM_001009944.3(PKD1):c.6779T>G (p.Ile2260Ser)
|
|
|
NM_001009944.3(PKD1):c.6797G>A (p.Arg2266His)
|
|
|
NM_001009944.3(PKD1):c.6810C>G (p.Asp2270Glu)
|
|
|
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.6842C>T (p.Ser2281Phe)
|
|
|
NM_001009944.3(PKD1):c.6867C>T (p.Gly2289=)
|
|
|
NM_001009944.3(PKD1):c.6875C>T (p.Thr2292Met)
|
|
|
NM_001009944.3(PKD1):c.6881T>C (p.Leu2294Pro)
|
|
|
NM_001009944.3(PKD1):c.688T>G (p.Cys230Gly)
|
|
|
NM_001009944.3(PKD1):c.68C>G (p.Ala23Gly)
|
|
|
NM_001009944.3(PKD1):c.68C>T (p.Ala23Val)
|
|
|
NM_001009944.3(PKD1):c.6908C>T (p.Ser2303Leu)
|
|
|
NM_001009944.3(PKD1):c.6916-10C>A
|
|
|
NM_001009944.3(PKD1):c.6916-10C>T
|
|
|
NM_001009944.3(PKD1):c.6916-5T>A
|
|
|
NM_001009944.3(PKD1):c.6925G>T (p.Gly2309Cys)
|
|
|
NM_001009944.3(PKD1):c.6932G>A (p.Cys2311Tyr)
|
|
|
NM_001009944.3(PKD1):c.6935C>G (p.Ala2312Gly)
|
|
|
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.6998G>A (p.Gly2333Asp)
|
|
|
NM_001009944.3(PKD1):c.7005G>C (p.Glu2335Asp)
|
rs2092401473
|
|
NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys)
|
rs2151783812
|
|
NM_001009944.3(PKD1):c.7010C>A (p.Thr2337Asn)
|
rs1060499713
|
|
NM_001009944.3(PKD1):c.7010C>G (p.Thr2337Ser)
|
|
|
NM_001009944.3(PKD1):c.7012T>C (p.Phe2338Leu)
|
|
|
NM_001009944.3(PKD1):c.7013T>G (p.Phe2338Cys)
|
rs2544795627
|
|
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.704C>G (p.Ala235Gly)
|
|
|
NM_001009944.3(PKD1):c.7061A>C (p.Gln2354Pro)
|
rs2092400132
|
|
NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro)
|
rs2092400099
|
|
NM_001009944.3(PKD1):c.7065+2_7065+4del
|
|
|
NM_001009944.3(PKD1):c.7066-4C>G
|
|
|
NM_001009944.3(PKD1):c.7067T>G (p.Val2356Gly)
|
rs2544785366
|
|
NM_001009944.3(PKD1):c.7081G>T (p.Gly2361Cys)
|
|
|
NM_001009944.3(PKD1):c.7089G>A (p.Val2363=)
|
|
|
NM_001009944.3(PKD1):c.7104_7118del (p.Leu2368_Cys2373delinsPhe)
|
rs2544784949
|
|
NM_001009944.3(PKD1):c.7118G>C (p.Cys2373Ser)
|
|
|
NM_001009944.3(PKD1):c.7127A>G (p.Gln2376Arg)
|
|
|
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile)
|
rs1555453383
|
|
NM_001009944.3(PKD1):c.7148G>T (p.Arg2383Leu)
|
rs753469193
|
|
NM_001009944.3(PKD1):c.7159G>A (p.Val2387Met)
|
|
|
NM_001009944.3(PKD1):c.7175G>C (p.Arg2392Pro)
|
|
|
NM_001009944.3(PKD1):c.7177T>C (p.Cys2393Arg)
|
|
|
NM_001009944.3(PKD1):c.7184A>G (p.Asn2395Ser)
|
|
|
NM_001009944.3(PKD1):c.7187G>A (p.Cys2396Tyr)
|
|
|
NM_001009944.3(PKD1):c.7196G>A (p.Gly2399Asp)
|
|
|
NM_001009944.3(PKD1):c.7205G>A (p.Arg2402Gln)
|
|
|
NM_001009944.3(PKD1):c.7209+14G>A
|
|
|
NM_001009944.3(PKD1):c.7220C>T (p.Ala2407Val)
|
|
|
NM_001009944.3(PKD1):c.7222C>G (p.Arg2408Gly)
|
|
|
NM_001009944.3(PKD1):c.7226C>A (p.Thr2409Lys)
|
|
|
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met)
|
rs1446061270
|
|
NM_001009944.3(PKD1):c.7233C>G (p.Ser2411Arg)
|
|
|
NM_001009944.3(PKD1):c.7244T>C (p.Leu2415Pro)
|
|
|
NM_001009944.3(PKD1):c.7253A>T (p.Asp2418Val)
|
|
|
NM_001009944.3(PKD1):c.7264A>C (p.Thr2422Pro)
|
|
|
NM_001009944.3(PKD1):c.7271C>A (p.Thr2424Lys)
|
|
|
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg)
|
rs1367567191
|
|
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.7324G>A (p.Glu2442Lys)
|
rs1171052012
|
|
NM_001009944.3(PKD1):c.7327G>A (p.Gly2443Arg)
|
|
|
NM_001009944.3(PKD1):c.7333_7359dup (p.Arg2453_Ser2454insThrPheThrLeuThrValLeuGlyArg)
|
|
|
NM_001009944.3(PKD1):c.7342C>G (p.Leu2448Val)
|
|
|
NM_001009944.3(PKD1):c.7343T>G (p.Leu2448Arg)
|
|
|
NM_001009944.3(PKD1):c.7346C>T (p.Thr2449Met)
|
|
|
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.7381G>A (p.Ala2461Thr)
|
rs142261601
|
|
NM_001009944.3(PKD1):c.7382C>A (p.Ala2461Asp)
|
|
|
NM_001009944.3(PKD1):c.7391G>A (p.Arg2464His)
|
|
|
NM_001009944.3(PKD1):c.7391G>C (p.Arg2464Pro)
|
|
|
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu)
|
rs539143745
|
|
NM_001009944.3(PKD1):c.7426T>A (p.Cys2476Ser)
|
|
|
NM_001009944.3(PKD1):c.7428C>G (p.Cys2476Trp)
|
|
|
NM_001009944.3(PKD1):c.7447G>A (p.Ala2483Thr)
|
|
|
NM_001009944.3(PKD1):c.744C>G (p.Cys248Trp)
|
|
|
NM_001009944.3(PKD1):c.7489+12C>T
|
|
|
NM_001009944.3(PKD1):c.7489+8C>T
|
|
|
NM_001009944.3(PKD1):c.7490-13G>T
|
|
|
NM_001009944.3(PKD1):c.7490-16G>A
|
|
|
NM_001009944.3(PKD1):c.7490-3C>G
|
|
|
NM_001009944.3(PKD1):c.7490-9G>A
|
|
|
NM_001009944.3(PKD1):c.7491C>T (p.Gly2497=)
|
|
|
NM_001009944.3(PKD1):c.7496A>G (p.His2499Arg)
|
|
|
NM_001009944.3(PKD1):c.7499A>T (p.Asp2500Val)
|
rs1596540533
|
|
NM_001009944.3(PKD1):c.7501G>A (p.Ala2501Thr)
|
|
|
NM_001009944.3(PKD1):c.7525_7539dup (p.Val2509_Leu2513dup)
|
rs2092331813
|
|
NM_001009944.3(PKD1):c.7543C>T (p.Arg2515Trp)
|
|
|
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.7547G>A (p.Arg2516His)
|
|
|
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His)
|
rs781066020
|
|
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg)
|
rs771788496
|
|
NM_001009944.3(PKD1):c.755C>T (p.Pro252Leu)
|
|
|
NM_001009944.3(PKD1):c.7561C>T (p.His2521Tyr)
|
|
|
NM_001009944.3(PKD1):c.7566C>T (p.Cys2522=)
|
|
|
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)
|
rs1555452876
|
|
NM_001009944.3(PKD1):c.7589G>A (p.Gly2530Asp)
|
|
|
NM_001009944.3(PKD1):c.7589G>T (p.Gly2530Val)
|
|
|
NM_001009944.3(PKD1):c.7590C>T (p.Gly2530=)
|
|
|
NM_001009944.3(PKD1):c.7618C>A (p.Pro2540Thr)
|
|
|
NM_001009944.3(PKD1):c.7622C>G (p.Pro2541Arg)
|
rs538031465
|
|
NM_001009944.3(PKD1):c.7623G>A (p.Pro2541=)
|
|
|
NM_001009944.3(PKD1):c.7625G>T (p.Gly2542Val)
|
|
|
NM_001009944.3(PKD1):c.7633C>T (p.Pro2545Ser)
|
|
|
NM_001009944.3(PKD1):c.7637A>G (p.His2546Arg)
|
|
|
NM_001009944.3(PKD1):c.764C>G (p.Pro255Arg)
|
|
|
NM_001009944.3(PKD1):c.7650C>T (p.Gly2550=)
|
|
|
NM_001009944.3(PKD1):c.7657G>A (p.Val2553Met)
|
|
|
NM_001009944.3(PKD1):c.7667A>C (p.Gln2556Pro)
|
rs2544777358
|
|
NM_001009944.3(PKD1):c.7679_7690del (p.Gly2560_Val2563del)
|
|
|
NM_001009944.3(PKD1):c.7684G>A (p.Ala2562Thr)
|
|
|
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly)
|
rs2092327341
|
|
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys)
|
rs2092327300
|
|
NM_001009944.3(PKD1):c.7703G>T (p.Arg2568Met)
|
|
|
NM_001009944.3(PKD1):c.7704-4G>T
|
rs778212840
|
|
NM_001009944.3(PKD1):c.7706_10050+2dup
|
|
|
NM_001009944.3(PKD1):c.7709T>C (p.Leu2570Ser)
|
|
|
NM_001009944.3(PKD1):c.7712C>T (p.Ala2571Val)
|
rs756838066
|
|
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val)
|
rs1555452734
|
|
NM_001009944.3(PKD1):c.7729C>T (p.Pro2577Ser)
|
|
|
NM_001009944.3(PKD1):c.7730C>A (p.Pro2577His)
|
|
|
NM_001009944.3(PKD1):c.7734C>G (p.Asn2578Lys)
|
|
|
NM_001009944.3(PKD1):c.7738A>C (p.Ser2580Arg)
|
|
|
NM_001009944.3(PKD1):c.7738A>G (p.Ser2580Gly)
|
|
|
NM_001009944.3(PKD1):c.7759T>C (p.Trp2587Arg)
|
|
|
NM_001009944.3(PKD1):c.7784T>A (p.Val2595Glu)
|
|
|
NM_001009944.3(PKD1):c.7796T>G (p.Leu2599Arg)
|
rs2092321685
|
|
NM_001009944.3(PKD1):c.7807G>T (p.Ala2603Ser)
|
|
|
NM_001009944.3(PKD1):c.7825_7827del (p.Ile2609del)
|
rs2544775146
|
|
NM_001009944.3(PKD1):c.7829A>C (p.Glu2610Ala)
|
rs768882400
|
|
NM_001009944.3(PKD1):c.7845G>A (p.Leu2615=)
|
|
|
NM_001009944.3(PKD1):c.7849A>G (p.Thr2617Ala)
|
|
|
NM_001009944.3(PKD1):c.7863+5G>C
|
rs2092319525
|
|
NM_001009944.3(PKD1):c.7863G>A (p.Glu2621=)
|
|
|
NM_001009944.3(PKD1):c.7864-3_7896del
|
|
|
NM_001009944.3(PKD1):c.7867G>A (p.Glu2623Lys)
|
rs2092305182
|
|
NM_001009944.3(PKD1):c.7894C>T (p.Pro2632Ser)
|
|
|
NM_001009944.3(PKD1):c.7907G>T (p.Arg2636Leu)
|
|
|
NM_001009944.3(PKD1):c.790C>T (p.Leu264Phe)
|
|
|
NM_001009944.3(PKD1):c.7919C>T (p.Ala2640Val)
|
|
|
NM_001009944.3(PKD1):c.7949T>C (p.Leu2650Pro)
|
rs2092302943
|
|
NM_001009944.3(PKD1):c.7951G>T (p.Val2651Leu)
|
|
|
NM_001009944.3(PKD1):c.7955C>G (p.Ser2652Cys)
|
|
|
NM_001009944.3(PKD1):c.7970C>G (p.Thr2657Ser)
|
|
|
NM_001009944.3(PKD1):c.7978G>T (p.Asp2660Tyr)
|
|
|
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.8016+5G>T
|
|
|
NM_001009944.3(PKD1):c.8017-10C>T
|
|
|
NM_001009944.3(PKD1):c.8017-9T>G
|
|
|
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.8049C>G (p.Cys2683Trp)
|
|
|
NM_001009944.3(PKD1):c.8065C>T (p.His2689Tyr)
|
|
|
NM_001009944.3(PKD1):c.8072T>A (p.Leu2691Gln)
|
rs2544758004
|
|
NM_001009944.3(PKD1):c.8072T>G (p.Leu2691Arg)
|
rs2544758004
|
|
NM_001009944.3(PKD1):c.8084T>A (p.Met2695Lys)
|
|
|
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.8161+6G>T
|
|
|
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.8197G>C (p.Ala2733Pro)
|
|
|
NM_001009944.3(PKD1):c.8218G>A (p.Gly2740Arg)
|
|
|
NM_001009944.3(PKD1):c.8222C>G (p.Ala2741Gly)
|
|
|
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys)
|
rs202159463
|
|
NM_001009944.3(PKD1):c.8239A>G (p.Met2747Val)
|
|
|
NM_001009944.3(PKD1):c.8240T>C (p.Met2747Thr)
|
|
|
NM_001009944.3(PKD1):c.8242G>C (p.Val2748Leu)
|
|
|
NM_001009944.3(PKD1):c.8248T>C (p.Ser2750Pro)
|
|
|
NM_001009944.3(PKD1):c.8272G>C (p.Ala2758Pro)
|
rs2092204988
|
|
NM_001009944.3(PKD1):c.8272_8283del (p.Ala2758_Arg2761del)
|
rs2544746064
|
|
NM_001009944.3(PKD1):c.8273C>T (p.Ala2758Val)
|
|
|
NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro)
|
rs2544746151
|
|
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_8295del (p.Ile2762_Arg2765del)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)
|
rs1596527405
|
|
NM_001009944.3(PKD1):c.8299C>G (p.Arg2767Gly)
|
|
|
NM_001009944.3(PKD1):c.82C>T (p.Arg28Cys)
|
|
|
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu)
|
rs1456510041
|
|
NM_001009944.3(PKD1):c.8323_8325dup (p.Thr2775_Leu2776insThr)
|
|
|
NM_001009944.3(PKD1):c.8355C>T (p.Gly2785=)
|
rs2544745305
|
|
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.8378T>A (p.Leu2793Gln)
|
rs2151755543
|
|
NM_001009944.3(PKD1):c.8378T>C (p.Leu2793Pro)
|
|
|
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro)
|
rs1596527065
|
|
NM_001009944.3(PKD1):c.8398C>T (p.Pro2800Ser)
|
|
|
NM_001009944.3(PKD1):c.8401G>T (p.Gly2801Trp)
|
|
|
NM_001009944.3(PKD1):c.8407G>C (p.Gly2803Arg)
|
|
|
NM_001009944.3(PKD1):c.8408G>A (p.Gly2803Asp)
|
|
|
NM_001009944.3(PKD1):c.8426C>A (p.Pro2809His)
|
|
|
NM_001009944.3(PKD1):c.8454C>A (p.Asn2818Lys)
|
|
|
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)
|
rs1567177613
|
|
NM_001009944.3(PKD1):c.8487G>A (p.Val2829=)
|
|
|
NM_001009944.3(PKD1):c.8499delinsAAAG (p.Pro2833_Phe2834insLys)
|
rs1596526681
|
|
NM_001009944.3(PKD1):c.8501T>C (p.Phe2834Ser)
|
|
|
NM_001009944.3(PKD1):c.8503C>T (p.Pro2835Ser)
|
|
|
NM_001009944.3(PKD1):c.8523C>G (p.Asn2841Lys)
|
|
|
NM_001009944.3(PKD1):c.8530_8538del (p.Val2844_Thr2846del)
|
rs2544743677
|
|
NM_001009944.3(PKD1):c.8534CCA[3] (p.Thr2846_Lys2847insThr)
|
|
|
NM_001009944.3(PKD1):c.8544G>A (p.Val2848=)
|
|
|
NM_001009944.3(PKD1):c.8545G>C (p.Ala2849Pro)
|
|
|
NM_001009944.3(PKD1):c.8549C>T (p.Ser2850Leu)
|
|
|
NM_001009944.3(PKD1):c.8553G>A (p.Met2851Ile)
|
|
|
NM_001009944.3(PKD1):c.8569G>A (p.Ala2857Thr)
|
|
|
NM_001009944.3(PKD1):c.8575G>A (p.Ala2859Thr)
|
|
|
NM_001009944.3(PKD1):c.8584C>T (p.Pro2862Ser)
|
|
|
NM_001009944.3(PKD1):c.858T>A (p.Ser286=)
|
|
|
NM_001009944.3(PKD1):c.8603C>G (p.Ser2868Ter)
|
rs901163374
|
|
NM_001009944.3(PKD1):c.8608C>T (p.Arg2870Cys)
|
|
|
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro)
|
rs556305338
|
|
NM_001009944.3(PKD1):c.8634C>G (p.Asn2878Lys)
|
|
|
NM_001009944.3(PKD1):c.8653C>T (p.Arg2885Trp)
|
|
|
NM_001009944.3(PKD1):c.8661C>G (p.His2887Gln)
|
|
|
NM_001009944.3(PKD1):c.8669C>A (p.Ser2890Tyr)
|
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.8680G>A (p.Ala2894Thr)
|
rs568897373
|
|
NM_001009944.3(PKD1):c.8683_8691dup (p.Val2897_Val2898insAsnSerVal)
|
|
|
NM_001009944.3(PKD1):c.8684A>T (p.Asn2895Ile)
|
|
|
NM_001009944.3(PKD1):c.8699A>T (p.Gln2900Leu)
|
|
|
NM_001009944.3(PKD1):c.8705A>C (p.Gln2902Pro)
|
|
|
NM_001009944.3(PKD1):c.8705A>G (p.Gln2902Arg)
|
rs1400163523
|
|
NM_001009944.3(PKD1):c.8707G>T (p.Ala2903Ser)
|
|
|
NM_001009944.3(PKD1):c.8725G>A (p.Val2909Ile)
|
|
|
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu)
|
rs1555450923
|
|
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)
|
rs954124689
|
|
NM_001009944.3(PKD1):c.8776T>C (p.Tyr2926His)
|
|
|
NM_001009944.3(PKD1):c.8795A>T (p.His2932Leu)
|
rs201524173
|
|
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys)
|
rs2151752267
|
|
NM_001009944.3(PKD1):c.8827G>T (p.Ala2943Ser)
|
rs1440626571
|
|
NM_001009944.3(PKD1):c.8834A>G (p.Tyr2945Cys)
|
|
|
NM_001009944.3(PKD1):c.8837T>C (p.Leu2946Pro)
|
|
|
NM_001009944.3(PKD1):c.8840A>C (p.His2947Pro)
|
|
|
NM_001009944.3(PKD1):c.884C>A (p.Ala295Asp)
|
rs745988311
|
|
NM_001009944.3(PKD1):c.8864A>G (p.His2955Arg)
|
|
|
NM_001009944.3(PKD1):c.8867A>G (p.Asn2956Ser)
|
|
|
NM_001009944.3(PKD1):c.8873C>T (p.Ser2958Leu)
|
|
|
NM_001009944.3(PKD1):c.8879_8880delinsTT (p.Ser2960Ile)
|
|
|
NM_001009944.3(PKD1):c.8891G>T (p.Arg2964Leu)
|
|
|
NM_001009944.3(PKD1):c.8894C>T (p.Pro2965Leu)
|
|
|
NM_001009944.3(PKD1):c.8909G>C (p.Gly2970Ala)
|
|
|
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg)
|
rs757527492
|
|
NM_001009944.3(PKD1):c.8920C>G (p.Arg2974Gly)
|
|
|
NM_001009944.3(PKD1):c.8929A>G (p.Thr2977Ala)
|
rs760382745
|
|
NM_001009944.3(PKD1):c.8936T>C (p.Phe2979Ser)
|
|
|
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.8973_8975del (p.His2992del)
|
|
|
NM_001009944.3(PKD1):c.8978T>G (p.Leu2993Arg)
|
rs1555450487
|
|
NM_001009944.3(PKD1):c.898G>A (p.Val300Ile)
|
|
|
NM_001009944.3(PKD1):c.8993A>C (p.His2998Pro)
|
rs2092140615
|
|
NM_001009944.3(PKD1):c.8997C>G (p.Phe2999Leu)
|
|
|
NM_001009944.3(PKD1):c.89G>A (p.Cys30Tyr)
|
rs2092941343
|
|
NM_001009944.3(PKD1):c.8C>G (p.Pro3Arg)
|
|
|
NM_001009944.3(PKD1):c.9001T>C (p.Trp3001Arg)
|
|
|
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.902C>T (p.Thr301Ile)
|
|
|
NM_001009944.3(PKD1):c.9031T>A (p.Tyr3011Asn)
|
|
|
NM_001009944.3(PKD1):c.9038C>T (p.Ser3013Phe)
|
rs2544733576
|
|
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro)
|
rs2151750096
|
|
NM_001009944.3(PKD1):c.9049T>G (p.Tyr3017Asp)
|
rs2544733483
|
|
NM_001009944.3(PKD1):c.9072G>A (p.Val3024=)
|
|
|
NM_001009944.3(PKD1):c.9074G>C (p.Trp3025Ser)
|
|
|
NM_001009944.3(PKD1):c.9075G>C (p.Trp3025Cys)
|
|
|
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)
|
rs2544733084
|
|
NM_001009944.3(PKD1):c.9105G>T (p.Glu3035Asp)
|
|
|
NM_001009944.3(PKD1):c.910C>G (p.Arg304Gly)
|
rs543328728
|
|
NM_001009944.3(PKD1):c.9112C>A (p.Pro3038Thr)
|
|
|
NM_001009944.3(PKD1):c.9112C>T (p.Pro3038Ser)
|
|
|
NM_001009944.3(PKD1):c.9115C>T (p.Arg3039Cys)
|
rs200522524
|
|
NM_001009944.3(PKD1):c.9119A>C (p.Gln3040Pro)
|
rs2092136027
|
|
NM_001009944.3(PKD1):c.9122C>A (p.Ala3041Asp)
|
|
|
NM_001009944.3(PKD1):c.9143T>G (p.Leu3048Arg)
|
rs1596522098
|
|
NM_001009944.3(PKD1):c.9146C>T (p.Thr3049Ile)
|
rs2151749645
|
|
NM_001009944.3(PKD1):c.9148G>A (p.Ala3050Thr)
|
|
|
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.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.9200C>G (p.Pro3067Arg)
|
|
|
NM_001009944.3(PKD1):c.9201+5G>A
|
rs1596521826
|
|
NM_001009944.3(PKD1):c.9201+5G>C
|
|
|
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.9239C>G (p.Thr3080Arg)
|
rs1322954391
|
|
NM_001009944.3(PKD1):c.9241T>C (p.Cys3081Arg)
|
|
|
NM_001009944.3(PKD1):c.9250T>C (p.Cys3084Arg)
|
|
|
NM_001009944.3(PKD1):c.9265A>G (p.Met3089Val)
|
|
|
NM_001009944.3(PKD1):c.928G>A (p.Gly310Ser)
|
|
|
NM_001009944.3(PKD1):c.9295G>C (p.Asp3099His)
|
|
|
NM_001009944.3(PKD1):c.9296A>T (p.Asp3099Val)
|
rs1567173808
|
|
NM_001009944.3(PKD1):c.9329C>G (p.Pro3110Arg)
|
|
|
NM_001009944.3(PKD1):c.9331T>A (p.Phe3111Ile)
|
rs767845814
|
|
NM_001009944.3(PKD1):c.9338G>A (p.Gly3113Glu)
|
|
|
NM_001009944.3(PKD1):c.934G>C (p.Ala312Pro)
|
|
|
NM_001009944.3(PKD1):c.9356A>G (p.Lys3119Arg)
|
|
|
NM_001009944.3(PKD1):c.9368T>A (p.Leu3123His)
|
|
|
NM_001009944.3(PKD1):c.9373A>G (p.Lys3125Glu)
|
rs2544729964
|
|
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile)
|
rs1567173560
|
|
NM_001009944.3(PKD1):c.9382T>A (p.Trp3128Arg)
|
rs2544729917
|
|
NM_001009944.3(PKD1):c.9388_9393del (p.Arg3130_Gly3131del)
|
|
|
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu)
|
rs2092119222
|
|
NM_001009944.3(PKD1):c.9396A>G (p.Ser3132=)
|
|
|
NM_001009944.3(PKD1):c.9397+3G>C
|
rs1555450109
|
|
NM_001009944.3(PKD1):c.9397G>C (p.Gly3133Arg)
|
|
|
NM_001009944.3(PKD1):c.9397G>T (p.Gly3133Cys)
|
rs2544729779
|
|
NM_001009944.3(PKD1):c.9398G>A (p.Gly3133Asp)
|
|
|
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile)
|
rs2092053154
|
|
NM_001009944.3(PKD1):c.9403A>G (p.Thr3135Ala)
|
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
|
|
|
NM_001009944.3(PKD1):c.9409C>G (p.His3137Asp)
|
|
|
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu)
|
rs1358566538
|
|
NM_001009944.3(PKD1):c.9418A>G (p.Ile3140Val)
|
|
|
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro)
|
rs2092051851
|
|
NM_001009944.3(PKD1):c.9428_9430dup (p.Tyr3143_Gly3144insAsp)
|
rs2151742372
|
|
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg)
|
rs1596515144
|
|
NM_001009944.3(PKD1):c.9442C>T (p.Arg3148Trp)
|
|
|
NM_001009944.3(PKD1):c.9445A>C (p.Ser3149Arg)
|
rs2544718506
|
|
NM_001009944.3(PKD1):c.9448G>A (p.Gly3150Ser)
|
|
|
NM_001009944.3(PKD1):c.9458_9484inv (p.His3153_Arg3162delinsArgTrpLysAlaLeuSerProSerArgCys)
|
|
|
NM_001009944.3(PKD1):c.9460C>G (p.Leu3154Val)
|
|
|
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.9494T>C (p.Leu3165Pro)
|
rs1555449597
|
|
NM_001009944.3(PKD1):c.9502T>G (p.Phe3168Val)
|
rs2151742081
|
|
NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val)
|
rs2092048001
|
|
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)
|
rs769045618
|
|
NM_001009944.3(PKD1):c.9530G>A (p.Gly3177Asp)
|
rs2544717733
|
|
NM_001009944.3(PKD1):c.9535G>A (p.Val3179Met)
|
|
|
NM_001009944.3(PKD1):c.9543G>T (p.Lys3181Asn)
|
rs2092047055
|
|
NM_001009944.3(PKD1):c.9548G>C (p.Arg3183Pro)
|
|
|
NM_001009944.3(PKD1):c.9563A>C (p.Asn3188Thr)
|
|
|
NM_001009944.3(PKD1):c.9568+3T>C
|
rs766423188
|
|
NM_001009944.3(PKD1):c.9568G>C (p.Gly3190Arg)
|
|
|
NM_001009944.3(PKD1):c.9569-12_9569-11delinsTA
|
|
|
NM_001009944.3(PKD1):c.9575G>T (p.Ser3192Ile)
|
rs2092040135
|
|
NM_001009944.3(PKD1):c.9578C>T (p.Pro3193Leu)
|
|
|
NM_001009944.3(PKD1):c.9588C>G (p.Phe3196Leu)
|
|
|
NM_001009944.3(PKD1):c.9593A>C (p.Gln3198Pro)
|
|
|
NM_001009944.3(PKD1):c.9601_9603del (p.Ile3201del)
|
rs1394021424
|
|
NM_001009944.3(PKD1):c.9602_9607del (p.Ile3201_Val3202del)
|
rs2544716082
|
|
NM_001009944.3(PKD1):c.9604G>A (p.Val3202Ile)
|
|
|
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala)
|
rs1596513913
|
|
NM_001009944.3(PKD1):c.9611A>T (p.Asp3204Val)
|
rs1596513913
|
|
NM_001009944.3(PKD1):c.9622G>A (p.Ala3208Thr)
|
|
|
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala)
|
rs1085307551
|
|
NM_001009944.3(PKD1):c.9637T>A (p.Phe3213Ile)
|
rs2151740841
|
|
NM_001009944.3(PKD1):c.9644T>A (p.Val3215Asp)
|
rs2544715688
|
|
NM_001009944.3(PKD1):c.9656T>G (p.Leu3219Arg)
|
rs2544715606
|
|
NM_001009944.3(PKD1):c.9660G>A (p.Ser3220=)
|
|
|
NM_001009944.3(PKD1):c.9668_9694del (p.Thr3223_Glu3231del)
|
rs2544715242
|
|
NM_001009944.3(PKD1):c.9672G>C (p.Glu3224Asp)
|
|
|
NM_001009944.3(PKD1):c.9678C>G (p.Asn3226Lys)
|
|
|
NM_001009944.3(PKD1):c.9682G>C (p.Gly3228Arg)
|
|
|
NM_001009944.3(PKD1):c.9685C>G (p.Leu3229Val)
|
|
|
NM_001009944.3(PKD1):c.9694A>G (p.Lys3232Glu)
|
rs2092034761
|
|
NM_001009944.3(PKD1):c.9695A>G (p.Lys3232Arg)
|
rs988225678
|
|
NM_001009944.3(PKD1):c.9712+2T>G
|
|
|
NM_001009944.3(PKD1):c.9715G>A (p.Asp3239Asn)
|
rs774484157
|
|
NM_001009944.3(PKD1):c.9731G>A (p.Arg3244His)
|
|
|
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
|
rs1232180956
|
|
NM_001009944.3(PKD1):c.9754G>A (p.Glu3252Lys)
|
rs2544713808
|
|
NM_001009944.3(PKD1):c.9758T>C (p.Leu3253Pro)
|
|
|
NM_001009944.3(PKD1):c.9767G>T (p.Gly3256Val)
|
rs1596512954
|
|
NM_001009944.3(PKD1):c.9777C>G (p.Asp3259Glu)
|
|
|
NM_001009944.3(PKD1):c.9782A>C (p.His3261Pro)
|
|
|
NM_001009944.3(PKD1):c.9791T>C (p.Leu3264Pro)
|
|
|
NM_001009944.3(PKD1):c.97T>C (p.Cys33Arg)
|
|
|
NM_001009944.3(PKD1):c.9818G>C (p.Ser3273Thr)
|
|
|
NM_001009944.3(PKD1):c.9827C>G (p.Thr3276Ser)
|
|
|
NM_001009944.3(PKD1):c.9827C>T (p.Thr3276Ile)
|
rs1367020335
|
|
NM_001009944.3(PKD1):c.982C>T (p.Pro328Ser)
|
|
|
NM_001009944.3(PKD1):c.9832A>G (p.Ile3278Val)
|
|
|
NM_001009944.3(PKD1):c.9834C>G (p.Ile3278Met)
|
|
|
NM_001009944.3(PKD1):c.9841G>C (p.Ala3281Pro)
|
rs1210319842
|
|
NM_001009944.3(PKD1):c.9842C>G (p.Ala3281Gly)
|
|
|
NM_001009944.3(PKD1):c.9844A>C (p.Thr3282Pro)
|
|
|
NM_001009944.3(PKD1):c.9847T>C (p.Cys3283Arg)
|
rs2092021242
|
|
NM_001009944.3(PKD1):c.9851G>A (p.Cys3284Tyr)
|
rs2544712909
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
NM_001009944.3(PKD1):c.9857T>A (p.Leu3286His)
|
|
|
NM_001009944.3(PKD1):c.9881C>A (p.Ala3294Asp)
|
rs1596512512
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
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.992A>G (p.Tyr331Cys)
|
|
|
NM_001009944.3(PKD1):c.9931C>T (p.His3311Tyr)
|
rs1442974903
|
|
NM_001009944.3(PKD1):c.994C>T (p.His332Tyr)
|
|
|
NM_001009944.3(PKD1):c.9965C>T (p.Thr3322Ile)
|
|
|
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met)
|
rs541894980
|
|
NM_001009944.3(PKD1):c.9997G>C (p.Val3333Leu)
|
|
|
NM_001009944.3:c.(9201+1_9398-1)_(10050+1_10051-1)del
|
|
|