ClinVar Miner

List of variants in gene PKD1 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 384
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln) rs40433 0.96687
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=) rs35842 0.83599
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632 0.32172
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960 0.30294
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=) rs2457533 0.27959
NM_001009944.3(PKD1):c.1850-4A>G rs35929659 0.26721
NM_001009944.3(PKD1):c.8949-17A>G rs9928278 0.26586
NM_001009944.3(PKD1):c.9195G>C (p.Val3065=) rs9935834 0.25891
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=) rs9935526 0.25800
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=) rs2003782 0.25615
NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=) rs71385734 0.24531
NM_001009944.3(PKD1):c.9196T>C (p.Phe3066Leu) rs9925969 0.23746
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=) rs12926160 0.22231
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677 0.20904
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068 0.20812
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg) rs9936785 0.19138
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=) rs28575767 0.18662
NM_001009944.3(PKD1):c.9569-13T>C rs11248911 0.16978
NM_001009944.3(PKD1):c.1119= (p.Leu373=) rs35842 0.16401
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884 0.14645
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768 0.14545
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) rs34197769 0.09456
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985 0.07036
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=) rs79884128 0.06100
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986 0.05783
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502 0.05705
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123 0.05636
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553 0.05104
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726 0.05044
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348 0.05024
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.04243
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188 0.04174
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513 0.03937
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03878
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=) rs143916489 0.03762
NM_001009944.3(PKD1):c.10822-14C>T rs7192711 0.03494
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309 0.03447
NM_001009944.3(PKD1):c.8949-20G>A rs9936029 0.03318
NM_001009944.3(PKD1):c.2216= (p.Arg739=) rs40433 0.03313
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313 0.03243
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=) rs7194935 0.03183
NM_001009944.3(PKD1):c.8948+17A>G rs9928442 0.03177
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
NM_001009944.3(PKD1):c.2854-5C>T rs114846412 0.02895
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051 0.02881
NM_001009944.3(PKD1):c.2214C>G (p.Pro738=) rs543166733 0.02846
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=) rs116114803 0.02380
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=) rs116236042 0.01894
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=) rs189277711 0.01413
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713 0.01372
NM_001009944.3(PKD1):c.3489C>T (p.Phe1163=) rs139744826 0.01269
NM_001009944.3(PKD1):c.*15G>A rs77566834 0.01262
NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=) rs567482892 0.01235
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001009944.3(PKD1):c.1539C>T (p.Pro513=) rs550769703 0.01159
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001009944.3(PKD1):c.11156+13G>A rs142616270 0.01065
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275 0.00989
NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=) rs78509585 0.00982
NM_001009944.3(PKD1):c.7863+13T>C rs115024665 0.00963
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084 0.00901
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541 0.00890
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787 0.00720
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) rs45478794 0.00702
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385 0.00619
NM_000296.4(PKD1):c.11534+3_11534+5dup rs201204878 0.00559
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=) rs28674911 0.00534
NM_001009944.3(PKD1):c.3277C>T (p.His1093Tyr) rs146352591 0.00519
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830 0.00507
NM_001009944.3(PKD1):c.214C>T (p.Leu72=) rs972113626 0.00498
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291 0.00492
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374 0.00485
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790 0.00411
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00383
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033 0.00366
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410 0.00357
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00354
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=) rs57870377 0.00331
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00329
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=) rs138648495 0.00324
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00316
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001009944.3(PKD1):c.11337C>G (p.Ser3779Arg) rs116835405 0.00308
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401 0.00289
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met) rs139507058 0.00267
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00226
NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=) rs147850232 0.00226
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001009944.3(PKD1):c.8948+11C>T rs147923678 0.00208
NM_001009944.3(PKD1):c.4872C>T (p.Ile1624=) rs142575178 0.00203
NM_001009944.3(PKD1):c.12664C>T (p.Leu4222=) rs144370969 0.00202
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319 0.00199
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371 0.00185
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838 0.00182
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121 0.00162
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027 0.00161
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) rs144593342 0.00150
NM_001009944.3(PKD1):c.5455G>T (p.Ala1819Ser) rs202119008 0.00150
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val) rs139917246 0.00140
NM_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00139
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413 0.00127
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00125
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val) rs144590217 0.00123
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00116
NM_001009944.3(PKD1):c.8161+12C>T rs375283810 0.00113
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00109
NM_001009944.3(PKD1):c.9924-11C>T rs201154266 0.00108
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037 0.00102
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=) rs141138826 0.00094
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00091
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe) rs370141157 0.00080
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128 0.00080
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val) rs141946034 0.00078
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00073
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=) rs138116334 0.00070
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=) rs149924232 0.00068
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=) rs373854628 0.00068
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu) rs886038369 0.00065
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile) rs140991712 0.00065
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=) rs142606648 0.00061
NM_001009944.3(PKD1):c.8161+5C>T rs534696523 0.00061
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001009944.3(PKD1):c.11616G>A (p.Glu3872=) rs370230612 0.00057
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361 0.00057
NM_001009944.3(PKD1):c.12139-5C>T rs146430229 0.00055
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) rs184394342 0.00051
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001009944.3(PKD1):c.768C>T (p.Ala256=) rs548835442 0.00049
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00047
NM_001009944.3(PKD1):c.1326C>T (p.Ala442=) rs376607683 0.00046
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140 0.00046
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=) rs2575316 0.00045
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=) rs148159605 0.00044
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr) rs143312683 0.00044
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00040
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835 0.00039
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=) rs367600795 0.00039
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00037
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001009944.3(PKD1):c.951T>C (p.Ala317=) rs540366995 0.00032
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met) rs564570407 0.00026
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala) rs2239671 0.00024
NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys) rs138672759 0.00024
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=) rs376075101 0.00023
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln) rs201021499 0.00021
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) rs950293866 0.00020
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235 0.00020
NM_001009944.3(PKD1):c.6915+19C>T rs371376951 0.00020
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00020
NM_001009944.3(PKD1):c.9740G>A (p.Arg3247His) rs140791671 0.00019
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=) rs377662680 0.00018
NM_001009944.3(PKD1):c.7278T>C (p.Ser2426=) rs2575311 0.00017
NM_001009944.3(PKD1):c.8751G>A (p.Ala2917=) rs746333408 0.00017
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326 0.00016
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471 0.00016
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533 0.00016
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val) rs183084156 0.00016
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=) rs374619113 0.00016
NM_001009944.3(PKD1):c.10161C>T (p.His3387=) rs143350197 0.00015
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=) rs530703053 0.00015
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00013
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569 0.00013
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp) rs374486955 0.00012
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 0.00012
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.3525G>A (p.Pro1175=) rs375443604 0.00011
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=) rs372696163 0.00011
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=) rs754894798 0.00011
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=) rs757969966 0.00011
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001009944.3(PKD1):c.5851C>A (p.Arg1951=) rs191717700 0.00010
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) rs201417193 0.00009
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=) rs146915755 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684 0.00009
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149 0.00007
NM_001009944.3(PKD1):c.5772C>T (p.Gly1924=) rs541661201 0.00007
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411 0.00007
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752 0.00007
NM_001009944.3(PKD1):c.10220+33G>A rs755957931 0.00006
NM_001009944.3(PKD1):c.12803C>T (p.Pro4268Leu) rs767385060 0.00006
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr) rs757107371 0.00006
NM_001009944.3(PKD1):c.4905G>A (p.Leu1635=) rs748967532 0.00006
NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=) rs773475991 0.00006
NM_001009944.3(PKD1):c.7490-19C>T rs767603290 0.00006
NM_001009944.3(PKD1):c.7490-38C>T rs775658891 0.00006
NM_001009944.3(PKD1):c.2319A>G (p.Ala773=) rs537747463 0.00005
NM_001009944.3(PKD1):c.1202-8G>A rs560799680 0.00004
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala) rs1341672915 0.00004
NM_001009944.3(PKD1):c.3087C>T (p.Ala1029=) rs374628271 0.00004
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=) rs369632433 0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001009944.3(PKD1):c.7767C>T (p.His2589=) rs555499745 0.00004
NM_001009944.3(PKD1):c.9923+9C>T rs560457620 0.00004
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn) rs773329559 0.00003
NM_001009944.3(PKD1):c.3295+12G>C rs1397385522 0.00003
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys) rs770755888 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.461C>T (p.Thr154Met) rs1441482246 0.00003
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val) rs780284563 0.00003
NM_001009944.3(PKD1):c.1674G>A (p.Thr558=) rs757658330 0.00002
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318 0.00002
NM_001009944.3(PKD1):c.360-18C>T rs771272026 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341 0.00002
NM_001009944.3(PKD1):c.8619C>T (p.Thr2873=) rs143419418 0.00002
NM_001009944.3(PKD1):c.9123C>T (p.Ala3041=) rs771451033 0.00002
NM_001009944.3(PKD1):c.10050+10G>C rs746704728 0.00001
NM_001009944.3(PKD1):c.10303C>T (p.Arg3435Trp) rs562831339 0.00001
NM_001009944.3(PKD1):c.10773C>T (p.Ser3591=) rs1168845943 0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031 0.00001
NM_001009944.3(PKD1):c.3030C>T (p.Asn1010=) rs373237487 0.00001
NM_001009944.3(PKD1):c.3390T>G (p.Ala1130=) rs769998736 0.00001
NM_001009944.3(PKD1):c.3948C>T (p.Tyr1316=) rs371589720 0.00001
NM_001009944.3(PKD1):c.3975C>T (p.Leu1325=) rs758222643 0.00001
NM_001009944.3(PKD1):c.4014C>T (p.Thr1338=) rs577199866 0.00001
NM_001009944.3(PKD1):c.4664C>T (p.Ala1555Val) rs758865304 0.00001
NM_001009944.3(PKD1):c.4815C>T (p.Gly1605=) rs149561527 0.00001
NM_001009944.3(PKD1):c.6096C>T (p.Ala2032=) rs776890572 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001009944.3(PKD1):c.6573C>T (p.Arg2191=) rs949370419 0.00001
NM_001009944.3(PKD1):c.6836G>A (p.Ser2279Asn) rs368363458 0.00001
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182 0.00001
NM_001009944.3(PKD1):c.7946C>T (p.Thr2649Ile) rs1490043027 0.00001
NM_001009944.3(PKD1):c.8246C>T (p.Ala2749Val) rs773014664 0.00001
NM_001009944.3(PKD1):c.9518C>T (p.Pro3173Leu) rs772608027 0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333 0.00001
NM_001009944.3(PKD1):c.10320_10337delinsATGGCC (p.Gln3441_Leu3446delinsTrpPro) rs1555448280
NM_001009944.3(PKD1):c.10601C>T (p.Ala3534Val)
NM_001009944.3(PKD1):c.10822-8del rs373684171
NM_001009944.3(PKD1):c.11099G>A (p.Arg3700His) rs141668965
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys) rs866331895
NM_001009944.3(PKD1):c.11213A>G (p.Asn3738Ser) rs1555446380
NM_001009944.3(PKD1):c.11240C>A (p.Pro3747Gln) rs2151701971
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs) rs1555446105
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.11538-10C>T rs377419559
NM_001009944.3(PKD1):c.11538-2del rs1555445595
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro) rs1555445569
NM_001009944.3(PKD1):c.11643C>T (p.Ala3881=) rs1555445526
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.11713-29T>A rs1555445308
NM_001009944.3(PKD1):c.11713-31C>T rs1318395645
NM_001009944.3(PKD1):c.11713-3C>G rs754015180
NM_001009944.3(PKD1):c.11743G>C (p.Ala3915Pro) rs1555445237
NM_001009944.3(PKD1):c.11813G>A (p.Arg3938Gln)
NM_001009944.3(PKD1):c.11852T>A (p.Val3951Glu) rs1555445164
NM_001009944.3(PKD1):c.11912del (p.Pro3971fs) rs1555445123
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.12000C>G (p.Val4000=) rs1555445055
NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro) rs1555444981
NM_001009944.3(PKD1):c.12095G>A (p.Gly4032Asp) rs142768096
NM_001009944.3(PKD1):c.12138+22del rs199701927
NM_001009944.3(PKD1):c.1221C>T (p.Pro407=) rs768893401
NM_001009944.3(PKD1):c.12316C>G (p.Leu4106Val)
NM_001009944.3(PKD1):c.12407G>A (p.Arg4136Lys) rs768391524
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=) rs375443308
NM_001009944.3(PKD1):c.1306T>C (p.Cys436Arg) rs1555458892
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs) rs1555458891
NM_001009944.3(PKD1):c.1328C>T (p.Ala443Val)
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly) rs1555458865
NM_001009944.3(PKD1):c.1385+5C>T rs886038368
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1598A>G (p.Gln533Arg) rs2855342
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser) rs1555458683
NM_001009944.3(PKD1):c.2009C>T (p.Thr670Met)
NM_001009944.3(PKD1):c.2081C>T (p.Pro694Leu)
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2233G>A (p.Ala745Thr)
NM_001009944.3(PKD1):c.2670C>T (p.Asn890=)
NM_001009944.3(PKD1):c.2870T>C (p.Val957Ala) rs1555457473
NM_001009944.3(PKD1):c.2902A>G (p.Thr968Ala) rs1555457457
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.2933A>G (p.Gln978Arg) rs1555457445
NM_001009944.3(PKD1):c.2942T>C (p.Val981Ala) rs1555457440
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.3007_3024dup (p.Ser1003_Asn1008dup) rs1555457321
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.3285C>A (p.Tyr1095Ter) rs558648661
NM_001009944.3(PKD1):c.3384C>G (p.Ser1128=) rs530066894
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=) rs151026121
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3568C>T (p.Arg1190Cys)
NM_001009944.3(PKD1):c.3644T>C (p.Leu1215Pro) rs1555456557
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly) rs2151800134
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.4191G>A (p.Glu1397=) rs1356967038
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln)
NM_001009944.3(PKD1):c.4217C>T (p.Pro1406Leu) rs1258742494
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser)
NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter) rs1555456139
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=) rs114489044
NM_001009944.3(PKD1):c.4720G>A (p.Ala1574Thr) rs767157522
NM_001009944.3(PKD1):c.4946C>T (p.Thr1649Met)
NM_001009944.3(PKD1):c.4979C>G (p.Thr1660Ser)
NM_001009944.3(PKD1):c.5036G>A (p.Ser1679Asn) rs756419129
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5093G>C (p.Arg1698Pro) rs569887918
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.6017G>C (p.Trp2006Ser)
NM_001009944.3(PKD1):c.603C>T (p.His201=) rs13334842
NM_001009944.3(PKD1):c.6148A>G (p.Asn2050Asp) rs1302127440
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=) rs886038370
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys)
NM_001009944.3(PKD1):c.641G>C (p.Cys214Ser)
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp) rs2151787670
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6747G>C (p.Val2249=)
NM_001009944.3(PKD1):c.6865G>A (p.Gly2289Ser)
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile) rs1555453383
NM_001009944.3(PKD1):c.7169_7171del (p.Glu2390del) rs1555453367
NM_001009944.3(PKD1):c.7353G>T (p.Leu2451=) rs1342647727
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val) rs1555452734
NM_001009944.3(PKD1):c.8086C>T (p.Leu2696Phe)
NM_001009944.3(PKD1):c.8162-13C>G
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=) rs886038371
NM_001009944.3(PKD1):c.858T>C (p.Ser286=) rs886038372
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys) rs1229120097
NM_001009944.3(PKD1):c.8791+5G>C rs751652400
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter) rs200520583
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr) rs1555450667
NM_001009944.3(PKD1):c.8948+15C>T rs778271516
NM_001009944.3(PKD1):c.9065_9070del (p.Asp3022_Met3023del) rs1555450426
NM_001009944.3(PKD1):c.9195_9196delinsCC (p.Phe3066Leu) rs372874584
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) rs1085307551
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9690G>A (p.Val3230=) rs777968856
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487
NM_001009944.3(PKD1):c.9994del (p.Val3332fs) rs1555449235

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