ClinVar Miner

List of variants in gene PKD1 reported by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1345
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632 0.30741
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960 0.30294
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=) rs2457533 0.26954
NM_001009944.3(PKD1):c.1850-4A>G rs35929659 0.25570
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=) rs9935526 0.24705
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=) rs2003782 0.24536
NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=) rs71385734 0.24531
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=) rs12926160 0.22231
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677 0.19794
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068 0.19706
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=) rs28575767 0.18662
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg) rs9936785 0.18159
NM_001009944.3(PKD1):c.1119= (p.Leu373=) rs35842 0.16401
NM_001009944.3(PKD1):c.9569-13T>C rs11248911 0.16122
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768 0.14545
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884 0.13957
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.11016+42_11016+43del rs36224524 0.06371
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=) rs79884128 0.06100
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986 0.05767
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502 0.05695
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123 0.05219
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726 0.05004
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348 0.04987
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553 0.04733
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188 0.04174
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.03980
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513 0.03868
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03768
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.2216= (p.Arg739=) rs40433 0.03313
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313 0.03147
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=) rs7194935 0.02958
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 0.02662
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.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593 0.01538
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=) rs189277711 0.01413
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713 0.01325
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
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 0.01175
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.4302C>T (p.Ile1434=) rs78509585 0.00982
NM_001009944.3(PKD1):c.7863+13T>C rs115024665 0.00963
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275 0.00926
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00865
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541 0.00850
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084 0.00836
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.7066-5G>A rs372745980 0.00669
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385 0.00641
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00622
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878 0.00559
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00547
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=) rs28674911 0.00516
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.-67C>T rs1016465177 0.00503
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.3277C>T (p.His1093Tyr) rs146352591 0.00473
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_001009944.3(PKD1):c.214C>T (p.Leu72=) rs972113626 0.00464
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00429
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665 0.00413
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790 0.00411
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=) rs139399947 0.00399
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00388
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033 0.00366
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00360
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00352
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00346
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.5373C>T (p.Asn1791=) rs143017410 0.00329
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=) rs138648495 0.00324
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00317
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00313
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00313
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410 0.00312
NM_001009944.3(PKD1):c.11337C>G (p.Ser3779Arg) rs116835405 0.00308
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00306
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401 0.00275
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00270
NM_001009944.3(PKD1):c.2515C>T (p.Pro839Ser) rs146651553 0.00261
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met) rs139507058 0.00248
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
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.3316C>G (p.Leu1106Val) rs141625744 0.00216
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319 0.00210
NM_001009944.3(PKD1):c.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.10406-4C>T rs151095649 0.00198
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp) rs143953714 0.00195
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371 0.00185
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130 0.00178
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838 0.00178
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.5852G>A (p.Arg1951Gln) rs137905643 0.00156
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027 0.00153
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 0.00137
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=) rs146745256 0.00137
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val) rs144590217 0.00123
NM_001009944.3(PKD1):c.-109C>T rs1034012323 0.00120
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00115
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00115
NM_001009944.3(PKD1):c.8161+12C>T rs375283810 0.00112
NM_001009944.3(PKD1):c.9924-11C>T rs201154266 0.00111
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943 0.00110
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=) rs143013095 0.00108
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00105
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu) rs979342927 0.00102
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037 0.00102
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00097
NM_001009944.3(PKD1):c.6915+14A>G rs199559513 0.00097
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=) rs141138826 0.00094
NM_001009944.3(PKD1):c.3140C>T (p.Ser1047Leu) rs147910505 0.00092
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00089
NM_001009944.3(PKD1):c.11616G>A (p.Glu3872=) rs370230612 0.00086
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00085
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.3380C>T (p.Pro1127Leu) rs145922241 0.00077
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser) rs200279710 0.00076
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=) rs12102740 0.00073
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=) rs570750726 0.00070
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=) rs138116334 0.00070
NM_001009944.3(PKD1):c.4925G>A (p.Arg1642His) rs191014450 0.00070
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
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.12139-5C>T rs146430229 0.00063
NM_001009944.3(PKD1):c.3369C>T (p.Arg1123=) rs143449093 0.00061
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile) rs140991712 0.00061
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506 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.2431C>G (p.Leu811Val) rs137928037 0.00058
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001009944.3(PKD1):c.6204C>T (p.Ser2068=) rs141524278 0.00058
NM_001009944.3(PKD1):c.9713-4C>T rs200434097 0.00058
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361 0.00057
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=) rs371368338 0.00056
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=) rs547262346 0.00054
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met) rs151089809 0.00053
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.4563T>C (p.Gly1521=) rs143843155 0.00048
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn) rs199700485 0.00048
NM_001009944.3(PKD1):c.5598C>T (p.Leu1866=) rs200853000 0.00046
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140 0.00046
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr) rs143312683 0.00044
NM_001009944.3(PKD1):c.2527T>C (p.Ser843Pro) rs181738771 0.00042
NM_001009944.3(PKD1):c.10240G>A (p.Gly3414Ser) rs371762181 0.00040
NM_001009944.3(PKD1):c.-62C>T rs889397886 0.00039
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835 0.00039
NM_001009944.3(PKD1):c.12253C>T (p.Leu4085=) rs199674888 0.00039
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=) rs367600795 0.00039
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860 0.00038
NM_001009944.3(PKD1):c.10749C>T (p.Gly3583=) rs111688332 0.00036
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00036
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=) rs375384742 0.00036
NM_001009944.3(PKD1):c.4838C>T (p.Ala1613Val) rs150405131 0.00036
NM_001009944.3(PKD1):c.871G>T (p.Ala291Ser) rs199693673 0.00036
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001009944.3(PKD1):c.2670C>T (p.Asn890=) rs547601879 0.00034
NM_001009944.3(PKD1):c.423G>A (p.Glu141=) rs9932419 0.00034
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=) rs373880615 0.00033
NM_001009944.3(PKD1):c.10619-13del rs562614426 0.00033
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=) rs375408086 0.00033
NM_001009944.3(PKD1):c.7490-10C>T rs201304767 0.00032
NM_001009944.3(PKD1):c.8017G>C (p.Gly2673Arg) rs563412045 0.00032
NM_001009944.3(PKD1):c.8042G>A (p.Arg2681His) rs200742306 0.00032
NM_001009944.3(PKD1):c.951T>C (p.Ala317=) rs540366995 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) rs377436997 0.00031
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=) rs141132307 0.00031
NM_001009944.3(PKD1):c.5363G>A (p.Gly1788Asp) rs201778279 0.00031
NM_001009944.3(PKD1):c.2707A>G (p.Ser903Gly) rs4018172 0.00030
NM_001009944.3(PKD1):c.10221-14C>T rs201207354 0.00029
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001009944.3(PKD1):c.8618C>T (p.Thr2873Ile) rs148378229 0.00029
NM_001009944.3(PKD1):c.827C>T (p.Thr276Ile) rs527780704 0.00028
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_001009944.3(PKD1):c.12570C>T (p.Ser4190=) rs140421738 0.00027
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00026
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp) rs536586062 0.00026
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348 0.00026
NM_001009944.3(PKD1):c.7476C>T (p.His2492=) rs763615650 0.00026
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu) rs147464577 0.00025
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=) rs376075101 0.00025
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131 0.00025
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=) rs181130940 0.00025
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val) rs183084156 0.00025
NM_001009944.3(PKD1):c.8609G>A (p.Arg2870His) rs200763681 0.00025
NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys) rs138672759 0.00024
NM_001009944.3(PKD1):c.6882C>T (p.Leu2294=) rs758337073 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.9187C>T (p.Arg3063Cys) rs145906459 0.00024
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp) rs551353498 0.00023
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=) rs145648167 0.00023
NM_001009944.3(PKD1):c.10822-8C>G rs9924796 0.00022
NM_001009944.3(PKD1):c.2098-10C>T rs561391461 0.00022
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln) rs374129201 0.00022
NM_001009944.3(PKD1):c.7622C>T (p.Pro2541Leu) rs538031465 0.00022
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile) rs145532417 0.00022
NM_001009944.3(PKD1):c.10363C>T (p.Leu3455=) rs114102239 0.00021
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln) rs201021499 0.00021
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr) rs201599671 0.00020
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235 0.00020
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00020
NM_001009944.3(PKD1):c.9548G>A (p.Arg3183Gln) rs79648977 0.00020
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_001009944.3(PKD1):c.6180C>T (p.Ala2060=) rs200782383 0.00019
NM_001009944.3(PKD1):c.9668C>T (p.Thr3223Met) rs202227418 0.00019
NM_001009944.3(PKD1):c.10168-8C>T rs199808929 0.00018
NM_001009944.3(PKD1):c.10920C>T (p.Ser3640=) rs150388984 0.00018
NM_001009944.3(PKD1):c.11412-6C>T rs367775096 0.00018
NM_001009944.3(PKD1):c.12818G>A (p.Arg4273His) rs200446880 0.00018
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His) rs375198888 0.00018
NM_001009944.3(PKD1):c.*8T>G rs767068030 0.00017
NM_001009944.3(PKD1):c.3726G>A (p.Thr1242=) rs146243410 0.00017
NM_001009944.3(PKD1):c.6099G>A (p.Ala2033=) rs376744819 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.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533 0.00016
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569 0.00016
NM_001009944.3(PKD1):c.10316G>A (p.Arg3439Gln) rs138546384 0.00015
NM_001009944.3(PKD1):c.543C>T (p.Val181=) rs1365608859 0.00015
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471 0.00015
NM_001009944.3(PKD1):c.7241C>T (p.Thr2414Met) rs201267349 0.00015
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=) rs530703053 0.00015
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu) rs200646755 0.00015
NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val) rs550768338 0.00015
NM_001009944.3(PKD1):c.12399C>T (p.Phe4133=) rs116309559 0.00014
NM_001009944.3(PKD1):c.1758A>C (p.Glu586Asp) rs766424461 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.5758C>T (p.Arg1920Cys) rs185746648 0.00014
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317 0.00014
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=) rs764827551 0.00014
NM_001009944.3(PKD1):c.10643G>A (p.Arg3548His) rs62624465 0.00013
NM_001009944.3(PKD1):c.3994G>A (p.Asp1332Asn) rs773388081 0.00013
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.7848C>T (p.Val2616=) rs143124196 0.00013
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) rs17135779 0.00013
NM_001009944.3(PKD1):c.9169G>A (p.Val3057Met) rs778055216 0.00013
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.6572G>A (p.Arg2191His) rs774490045 0.00012
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=) rs754894798 0.00012
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.2232C>T (p.Ser744=) rs553802995 0.00011
NM_001009944.3(PKD1):c.4695C>T (p.Ser1565=) rs781264169 0.00011
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00011
NM_001009944.3(PKD1):c.5704G>A (p.Gly1902Arg) rs370479407 0.00011
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu) rs201062488 0.00011
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=) rs146363575 0.00011
NM_001009944.3(PKD1):c.8755G>A (p.Gly2919Arg) rs139438157 0.00011
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn) rs150189496 0.00011
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=) rs990065629 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.4014C>T (p.Thr1338=) rs577199866 0.00010
NM_001009944.3(PKD1):c.4220C>T (p.Pro1407Leu) rs140412120 0.00010
NM_001009944.3(PKD1):c.5851C>A (p.Arg1951=) rs191717700 0.00010
NM_001009944.3(PKD1):c.6091G>A (p.Val2031Met) rs765389584 0.00010
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=) rs142391112 0.00010
NM_001009944.3(PKD1):c.8392G>A (p.Gly2798Ser) rs139544953 0.00010
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 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.11589G>A (p.Leu3863=) rs778410054 0.00009
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr) rs201035636 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.6484C>T (p.Arg2162Trp) rs373256534 0.00009
NM_001009944.3(PKD1):c.6935C>T (p.Ala2312Val) rs533284364 0.00009
NM_001009944.3(PKD1):c.8161+15G>A rs776023570 0.00009
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_001009944.3(PKD1):c.9035C>T (p.Thr3012Met) rs376160782 0.00009
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys) rs543328728 0.00009
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001009944.3(PKD1):c.4512C>T (p.Asp1504=) rs774929658 0.00008
NM_001009944.3(PKD1):c.5957C>T (p.Thr1986Met) rs200139724 0.00008
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln) rs367746233 0.00008
NM_001009944.3(PKD1):c.10101C>T (p.Ile3367=) rs535964972 0.00007
NM_001009944.3(PKD1):c.11473C>T (p.Leu3825=) rs151157369 0.00007
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.1202-8G>A rs560799680 0.00007
NM_001009944.3(PKD1):c.5772C>T (p.Gly1924=) rs541661201 0.00007
NM_001009944.3(PKD1):c.6209C>G (p.Pro2070Arg) rs754944119 0.00007
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411 0.00007
NM_001009944.3(PKD1):c.11627C>T (p.Ala3876Val) rs759962601 0.00006
NM_001009944.3(PKD1):c.12171C>T (p.Ser4057=) rs140154490 0.00006
NM_001009944.3(PKD1):c.2949T>C (p.Asn983=) rs766568622 0.00006
NM_001009944.3(PKD1):c.413G>A (p.Arg138Gln) rs2515725 0.00006
NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=) rs773475991 0.00006
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val) rs1353004865 0.00006
NM_001009944.3(PKD1):c.8405C>T (p.Pro2802Leu) rs534112936 0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161 0.00006
NM_001009944.3(PKD1):c.8963C>T (p.Ala2988Val) rs765076655 0.00006
NM_001009944.3(PKD1):c.8994C>T (p.His2998=) rs776013663 0.00006
NM_001009944.3(PKD1):c.9620C>T (p.Thr3207Met) rs200214266 0.00006
NM_001009944.3(PKD1):c.11978C>T (p.Ser3993Leu) rs775512866 0.00005
NM_001009944.3(PKD1):c.1202-10C>T rs529554291 0.00005
NM_001009944.3(PKD1):c.12486C>A (p.Pro4162=) rs759210811 0.00005
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr) rs757107371 0.00005
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg) rs1050939771 0.00005
NM_001009944.3(PKD1):c.3906C>T (p.Ala1302=) rs547817931 0.00005
NM_001009944.3(PKD1):c.4541C>G (p.Thr1514Ser) rs779030441 0.00005
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=) rs759043048 0.00005
NM_001009944.3(PKD1):c.4905G>A (p.Leu1635=) rs748967532 0.00005
NM_001009944.3(PKD1):c.5933A>G (p.Asn1978Ser) rs373707925 0.00005
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=) rs556708086 0.00005
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096 0.00005
NM_001009944.3(PKD1):c.7466C>G (p.Thr2489Ser) rs754358218 0.00005
NM_001009944.3(PKD1):c.7870C>T (p.Arg2624Trp) rs766658912 0.00005
NM_001009944.3(PKD1):c.8191G>A (p.Val2731Met) rs138906895 0.00005
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys) rs773857360 0.00005
NM_001009944.3(PKD1):c.957G>A (p.Pro319=) rs62038821 0.00005
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=) rs770635587 0.00005
NM_001009944.3(PKD1):c.1021G>A (p.Ala341Thr) rs2855337 0.00004
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg) rs776110243 0.00004
NM_001009944.3(PKD1):c.2098-3C>T rs1295368570 0.00004
NM_001009944.3(PKD1):c.3714C>T (p.Gly1238=) rs769745056 0.00004
NM_001009944.3(PKD1):c.4147G>A (p.Val1383Ile) rs201627517 0.00004
NM_001009944.3(PKD1):c.429G>A (p.Gln143=) rs765295197 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.6666G>A (p.Ala2222=) rs370851999 0.00004
NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys) rs367918229 0.00004
NM_001009944.3(PKD1):c.9168C>T (p.Phe3056=) rs199787425 0.00004
NM_001009944.3(PKD1):c.9398-8C>T rs781378410 0.00004
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=) rs535771951 0.00004
NM_001009944.3(PKD1):c.10435G>A (p.Glu3479Lys) rs779460999 0.00003
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile) rs200120839 0.00003
NM_001009944.3(PKD1):c.1212G>A (p.Pro404=) rs578104257 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.2222C>T (p.Pro741Leu) rs779605081 0.00003
NM_001009944.3(PKD1):c.2396G>A (p.Arg799Gln) rs766489466 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.3384C>T (p.Ser1128=) rs530066894 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.3824G>T (p.Gly1275Val) rs577536178 0.00003
NM_001009944.3(PKD1):c.3827C>T (p.Ala1276Val) rs776429943 0.00003
NM_001009944.3(PKD1):c.4876G>A (p.Val1626Ile) rs764356283 0.00003
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser) rs552542784 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.5994C>T (p.Arg1998=) rs766375023 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.7818G>C (p.Gln2606His) rs753798096 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.8016+11C>G rs757750385 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.9360C>T (p.Tyr3120=) rs983374570 0.00003
NM_001009944.3(PKD1):c.9736C>T (p.Arg3246Trp) rs746231158 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.10303C>T (p.Arg3435Trp) rs562831339 0.00002
NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu) rs779271659 0.00002
NM_001009944.3(PKD1):c.11156+4C>T rs1417376349 0.00002
NM_001009944.3(PKD1):c.1674G>A (p.Thr558=) rs757658330 0.00002
NM_001009944.3(PKD1):c.2068G>A (p.Val690Ile) rs948344824 0.00002
NM_001009944.3(PKD1):c.360-5T>C rs4018168 0.00002
NM_001009944.3(PKD1):c.4056C>T (p.Ser1352=) rs756229724 0.00002
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=) rs776410570 0.00002
NM_001009944.3(PKD1):c.503G>C (p.Gly168Ala) rs892397726 0.00002
NM_001009944.3(PKD1):c.7612G>A (p.Val2538Met) rs149281650 0.00002
NM_001009944.3(PKD1):c.773C>T (p.Thr258Ile) rs754889452 0.00002
NM_001009944.3(PKD1):c.788C>A (p.Thr263Asn) rs900664088 0.00002
NM_001009944.3(PKD1):c.8061G>A (p.Thr2687=) rs745338344 0.00002
NM_001009944.3(PKD1):c.8366A>G (p.Asp2789Gly) rs772565411 0.00002
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys) rs1287231217 0.00001
NM_001009944.3(PKD1):c.10050+10G>C rs746704728 0.00001
NM_001009944.3(PKD1):c.10064C>T (p.Pro3355Leu) rs781263445 0.00001
NM_001009944.3(PKD1):c.10194T>C (p.Ser3398=) rs773251931 0.00001
NM_001009944.3(PKD1):c.10536G>A (p.Ala3512=) rs1265357275 0.00001
NM_001009944.3(PKD1):c.10726G>A (p.Val3576Met) rs1483830437 0.00001
NM_001009944.3(PKD1):c.11292C>A (p.Gly3764=) rs553713361 0.00001
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 0.00001
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter) rs1567148587 0.00001
NM_001009944.3(PKD1):c.12336C>T (p.Ala4112=) rs774821005 0.00001
NM_001009944.3(PKD1):c.1643C>T (p.Ala548Val) rs768613812 0.00001
NM_001009944.3(PKD1):c.167T>C (p.Leu56Pro) rs2092940195 0.00001
NM_001009944.3(PKD1):c.2173G>A (p.Ala725Thr) rs773053314 0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031 0.00001
NM_001009944.3(PKD1):c.2498A>G (p.Asp833Gly) rs1354266181 0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001009944.3(PKD1):c.2607C>A (p.Arg869=) rs537405706 0.00001
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.2882C>T (p.Ser961Leu) rs1409614100 0.00001
NM_001009944.3(PKD1):c.3015C>T (p.Val1005=) rs768622207 0.00001
NM_001009944.3(PKD1):c.3080T>G (p.Val1027Gly) rs377725958 0.00001
NM_001009944.3(PKD1):c.3242C>T (p.Ser1081Leu) rs377441860 0.00001
NM_001009944.3(PKD1):c.3761C>T (p.Ser1254Leu) rs763539652 0.00001
NM_001009944.3(PKD1):c.3873C>G (p.Val1291=) rs753464188 0.00001
NM_001009944.3(PKD1):c.3920C>T (p.Thr1307Met) rs527659927 0.00001
NM_001009944.3(PKD1):c.4713G>A (p.Ser1571=) rs575632499 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.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.5297T>G (p.Phe1766Cys) rs767720073 0.00001
NM_001009944.3(PKD1):c.5559C>T (p.Thr1853=) rs752107118 0.00001
NM_001009944.3(PKD1):c.5589C>T (p.Ser1863=) rs775686229 0.00001
NM_001009944.3(PKD1):c.5979A>G (p.Thr1993=) rs756636397 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001009944.3(PKD1):c.6195C>T (p.Ala2065=) rs770590637 0.00001
NM_001009944.3(PKD1):c.6450G>A (p.Glu2150=) rs1257734818 0.00001
NM_001009944.3(PKD1):c.6527G>A (p.Arg2176His) rs777123546 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.6764G>A (p.Arg2255His) rs538164729 0.00001
NM_001009944.3(PKD1):c.6954C>T (p.Arg2318=) rs1209701736 0.00001
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met) rs758620810 0.00001
NM_001009944.3(PKD1):c.7066-10C>G rs776383013 0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191 0.00001
NM_001009944.3(PKD1):c.7284C>T (p.Gly2428=) rs1177672366 0.00001
NM_001009944.3(PKD1):c.7581C>T (p.Val2527=) rs766719977 0.00001
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8043C>G (p.Arg2681=) rs1040303746 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.8279T>C (p.Met2760Thr) rs879809222 0.00001
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His) rs770080914 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser) rs1057523051 0.00001
NM_001009944.3(PKD1):c.8504C>T (p.Pro2835Leu) rs2575317 0.00001
NM_001009944.3(PKD1):c.8688C>T (p.Ser2896=) rs548736542 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001009944.3(PKD1):c.9505C>T (p.Arg3169Trp) rs765180455 0.00001
NM_001009944.3(PKD1):c.9534C>T (p.Ser3178=) rs374200345 0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333 0.00001
NM_001009944.3(PKD1):c.9885C>T (p.Asn3295=) rs764028566 0.00001
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn) rs773798664 0.00001
NC_000016.10:g.2137318_2137960del
NC_000016.10:g.2137428_2137718del
NM_001009944.2(PKD1):c.12004delG rs2091475541
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001009944.3(PKD1):c.-109C>G rs1034012323
NM_001009944.3(PKD1):c.-39G>T
NM_001009944.3(PKD1):c.-52C>T rs1051951834
NM_001009944.3(PKD1):c.-87A>G
NM_001009944.3(PKD1):c.-9G>A
NM_001009944.3(PKD1):c.10031del (p.Phe3344fs) rs2092006545
NM_001009944.3(PKD1):c.10051-10C>A rs3874642
NM_001009944.3(PKD1):c.10051-12C>T
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) rs1567166045
NM_001009944.3(PKD1):c.1010T>G (p.Leu337Arg)
NM_001009944.3(PKD1):c.10146G>A (p.Thr3382=)
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10168-7C>G
NM_001009944.3(PKD1):c.10189A>T (p.Lys3397Ter)
NM_001009944.3(PKD1):c.1021dup (p.Ala341fs) rs2544878096
NM_001009944.3(PKD1):c.10220+10C>G
NM_001009944.3(PKD1):c.10221-80del rs113824832
NM_001009944.3(PKD1):c.10251G>A (p.Thr3417=)
NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter) rs918228674
NM_001009944.3(PKD1):c.10349A>G (p.Glu3450Gly) rs1321795630
NM_001009944.3(PKD1):c.10351G>A (p.Asp3451Asn)
NM_001009944.3(PKD1):c.10403C>T (p.Ser3468Leu)
NM_001009944.3(PKD1):c.10406-13C>T
NM_001009944.3(PKD1):c.10406-4C>G
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.10435G>T (p.Glu3479Ter)
NM_001009944.3(PKD1):c.10441del (p.Val3481fs) rs2091884240
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg) rs752503970
NM_001009944.3(PKD1):c.10499+7G>C
NM_001009944.3(PKD1):c.10527_10529delinsT (p.Glu3509fs)
NM_001009944.3(PKD1):c.10619-12_10619-11del rs1287879038
NM_001009944.3(PKD1):c.10637G>A (p.Arg3546Gln)
NM_001009944.3(PKD1):c.10642C>T (p.Arg3548Cys)
NM_001009944.3(PKD1):c.10657T>G (p.Trp3553Gly) rs1349398113
NM_001009944.3(PKD1):c.10689G>A (p.Leu3563=)
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10714_10717del (p.Val3572fs)
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter) rs1177764199
NM_001009944.3(PKD1):c.10733del (p.Ala3578fs) rs2091725538
NM_001009944.3(PKD1):c.10762T>A (p.Trp3588Arg)
NM_001009944.3(PKD1):c.10764G>T (p.Trp3588Cys) rs2151708577
NM_001009944.3(PKD1):c.10774AGC[1] (p.Ser3593del)
NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg) rs1057516200
NM_001009944.3(PKD1):c.10821+1G>C
NM_001009944.3(PKD1):c.10822-8del rs373684171
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.10921G>A (p.Ala3641Thr)
NM_001009944.3(PKD1):c.10943dup (p.Pro3649fs)
NM_001009944.3(PKD1):c.10950C>T (p.His3650=)
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.10964_10965delinsAA (p.Phe3655Ter)
NM_001009944.3(PKD1):c.10966C>T (p.Leu3656=) rs898443059
NM_001009944.3(PKD1):c.10969G>C (p.Ala3657Pro)
NM_001009944.3(PKD1):c.10970C>T (p.Ala3657Val)
NM_001009944.3(PKD1):c.109T>G (p.Cys37Gly)
NM_001009944.3(PKD1):c.1100del (p.Val367fs)
NM_001009944.3(PKD1):c.11012T>C (p.Leu3671Pro)
NM_001009944.3(PKD1):c.11016+2T>C
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11017-10C>T
NM_001009944.3(PKD1):c.11041C>A (p.Leu3681Met)
NM_001009944.3(PKD1):c.11046G>A (p.Leu3682=)
NM_001009944.3(PKD1):c.110G>A (p.Cys37Tyr)
NM_001009944.3(PKD1):c.11134C>T (p.Arg3712Trp)
NM_001009944.3(PKD1):c.11156+12C>A
NM_001009944.3(PKD1):c.11156+12_11156+13delinsAA rs2091665982
NM_001009944.3(PKD1):c.11157-1G>A rs2091646317
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>A (p.Trp3724Ter)
NM_001009944.3(PKD1):c.11178G>A (p.Trp3726Ter) rs2091645594
NM_001009944.3(PKD1):c.11195T>C (p.Leu3732Pro)
NM_001009944.3(PKD1):c.111C>A (p.Cys37Ter) rs2092941027
NM_001009944.3(PKD1):c.11242C>T (p.Arg3748Trp) rs2091642915
NM_001009944.3(PKD1):c.11257C>A (p.Arg3753=)
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11263C>T (p.Gln3755Ter) rs2091642103
NM_001009944.3(PKD1):c.11269+1G>C
NM_001009944.3(PKD1):c.11270-17_11346delinsCCG
NM_001009944.3(PKD1):c.11270-5T>C
NM_001009944.3(PKD1):c.11286_11308del (p.Pro3763fs)
NM_001009944.3(PKD1):c.11289C>G (p.Pro3763=)
NM_001009944.3(PKD1):c.11289del (p.Gly3764fs)
NM_001009944.3(PKD1):c.11291G>T (p.Gly3764Val)
NM_001009944.3(PKD1):c.11292C>T (p.Gly3764=)
NM_001009944.3(PKD1):c.112C>G (p.Leu38Val) rs1030433875
NM_001009944.3(PKD1):c.11313_11314insCCCG (p.Ala3772fs) rs2091620545
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.11322A>T (p.Gly3774=)
NM_001009944.3(PKD1):c.11325_11344del (p.Phe3776fs)
NM_001009944.3(PKD1):c.11330G>A (p.Ser3777Asn)
NM_001009944.3(PKD1):c.11333C>A (p.Thr3778Asn)
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup) rs2091618795
NM_001009944.3(PKD1):c.11342_11353del (p.Tyr3781_Gly3784del)
NM_001009944.3(PKD1):c.11353T>C (p.Trp3785Arg)
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11388del (p.Tyr3797fs) rs2091615030
NM_001009944.3(PKD1):c.11389T>G (p.Tyr3797Asp)
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys) rs138629093
NM_001009944.3(PKD1):c.1139G>A (p.Arg380His)
NM_001009944.3(PKD1):c.11410G>A (p.Gly3804Arg) rs2091612949
NM_001009944.3(PKD1):c.11412-7C>G rs553377243
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11450G>A (p.Gly3817Glu) rs1168911293
NM_001009944.3(PKD1):c.11452_11453del (p.Gly3818fs)
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) rs1325300747
NM_001009944.3(PKD1):c.11492G>A (p.Arg3831His)
NM_001009944.3(PKD1):c.11510T>G (p.Leu3837Arg) rs2544619907
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter) rs199476096
NM_001009944.3(PKD1):c.11532C>G (p.Asp3844Glu)
NM_001009944.3(PKD1):c.11538-10C>A rs377419559
NM_001009944.3(PKD1):c.11538-2A>C rs2544615836
NM_001009944.3(PKD1):c.11547_11610del (p.Val3850fs)
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.11552del (p.Phe3851fs) rs2091580617
NM_001009944.3(PKD1):c.11553C>G (p.Phe3851Leu)
NM_001009944.3(PKD1):c.11553C>T (p.Phe3851=)
NM_001009944.3(PKD1):c.11563A>C (p.Thr3855Pro)
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11568C>G (p.Arg3856=)
NM_001009944.3(PKD1):c.11572_11592del (p.Ser3858_His3864del)
NM_001009944.3(PKD1):c.11588T>A (p.Leu3863Gln)
NM_001009944.3(PKD1):c.1162G>T (p.Ala388Ser) rs772111757
NM_001009944.3(PKD1):c.11634C>T (p.Arg3878=)
NM_001009944.3(PKD1):c.11674_11676delinsTT (p.Arg3892fs)
NM_001009944.3(PKD1):c.11674_11695del (p.Arg3892fs) rs2544613573
NM_001009944.3(PKD1):c.11693C>T (p.Ser3898Leu)
NM_001009944.3(PKD1):c.11712+2T>C rs2091571271
NM_001009944.3(PKD1):c.11713-2A>G rs1555445274
NM_001009944.3(PKD1):c.11720T>G (p.Leu3907Arg)
NM_001009944.3(PKD1):c.11751C>T (p.Ala3917=)
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11768A>C (p.His3923Pro) rs1472012498
NM_001009944.3(PKD1):c.11784G>A (p.Trp3928Ter) rs759035704
NM_001009944.3(PKD1):c.11787C>T (p.Arg3929=)
NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs) rs1555445192
NM_001009944.3(PKD1):c.11831T>C (p.Leu3944Pro) rs2091494966
NM_001009944.3(PKD1):c.11839_11840delinsTT (p.Ala3947Phe)
NM_001009944.3(PKD1):c.11847_11866del (p.Leu3950fs)
NM_001009944.3(PKD1):c.11853dup (p.Arg3952fs) rs2091493781
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro) rs1424496188
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.11872G>A (p.Ala3958Thr)
NM_001009944.3(PKD1):c.11874C>T (p.Ala3958=)
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) rs1596476503
NM_001009944.3(PKD1):c.11889G>A (p.Trp3963Ter) rs2091491322
NM_001009944.3(PKD1):c.11893C>T (p.Arg3965Cys)
NM_001009944.3(PKD1):c.11905_11916del (p.Gly3969_Arg3972del)
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11927G>T (p.Ser3976Ile) rs1022699284
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.11955C>G (p.Ser3985=) rs369544915
NM_001009944.3(PKD1):c.11973_11980dup (p.Leu3994fs)
NM_001009944.3(PKD1):c.11976_11983dup (p.Leu3995fs)
NM_001009944.3(PKD1):c.11988C>T (p.Phe3996=)
NM_001009944.3(PKD1):c.11996dup (p.Leu3999fs)
NM_001009944.3(PKD1):c.12003+13C>T
NM_001009944.3(PKD1):c.12003+1G>T
NM_001009944.3(PKD1):c.12004-11C>T
NM_001009944.3(PKD1):c.12007del (p.Ala4003fs) rs2091475296
NM_001009944.3(PKD1):c.12008C>T (p.Ala4003Val)
NM_001009944.3(PKD1):c.1201+1G>A rs1596588978
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.1202-1G>A rs2151822688
NM_001009944.3(PKD1):c.1202-2A>T rs2092662592
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12034T>C (p.Trp4012Arg)
NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro) rs1555444981
NM_001009944.3(PKD1):c.12047G>C (p.Gly4016Ala)
NM_001009944.3(PKD1):c.12048C>T (p.Gly4016=) rs756122519
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs) rs2544593252
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12062G>A (p.Arg4021Gln) rs1487111123
NM_001009944.3(PKD1):c.12067C>G (p.Leu4023Val) rs746392681
NM_001009944.3(PKD1):c.12078C>T (p.Leu4026=) rs562488184
NM_001009944.3(PKD1):c.12097C>G (p.Leu4033Val) rs771603537
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg) rs767579073
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12132C>T (p.Ala4044=) rs1804177
NM_001009944.3(PKD1):c.12138+14C>T
NM_001009944.3(PKD1):c.12138+22del rs199701927
NM_001009944.3(PKD1):c.12138+5G>A
NM_001009944.3(PKD1):c.12139-11C>T
NM_001009944.3(PKD1):c.12139-12C>T
NM_001009944.3(PKD1):c.12139-8C>T
NM_001009944.3(PKD1):c.12164dup (p.Trp4056fs)
NM_001009944.3(PKD1):c.12165C>T (p.Leu4055=) rs375183934
NM_001009944.3(PKD1):c.12168G>A (p.Trp4056Ter)
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter) rs2091450305
NM_001009944.3(PKD1):c.12184_12185del (p.Leu4062fs)
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs) rs2544588372
NM_001009944.3(PKD1):c.12301dup (p.Leu4101fs)
NM_001009944.3(PKD1):c.12305_12324del (p.Gly4102fs)
NM_001009944.3(PKD1):c.12337T>C (p.Leu4113=)
NM_001009944.3(PKD1):c.12369G>T (p.Glu4123Asp)
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12382G>A (p.Glu4128Lys) rs1596473289
NM_001009944.3(PKD1):c.12390_12393del (p.Glu4131fs)
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.123_129dup (p.Gly44fs)
NM_001009944.3(PKD1):c.12400del (p.Leu4134fs)
NM_001009944.3(PKD1):c.12410T>C (p.Leu4137Pro)
NM_001009944.3(PKD1):c.12416_12417delinsCT (p.Leu4139Pro)
NM_001009944.3(PKD1):c.12442dup (p.Glu4148fs)
NM_001009944.3(PKD1):c.12445-5_12451dup
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12460C>A (p.Arg4154Ser)
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12509A>G (p.Lys4170Arg)
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12577C>T (p.Gln4193Ter) rs2544579185
NM_001009944.3(PKD1):c.12596_12600dup (p.Leu4201Ter)
NM_001009944.3(PKD1):c.12596dup (p.Ser4200fs)
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs) rs2544578227
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.12658G>T (p.Glu4220Ter) rs2091397048
NM_001009944.3(PKD1):c.12668T>C (p.Leu4223Pro)
NM_001009944.3(PKD1):c.12671C>A (p.Thr4224Asn)
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12682dup (p.Arg4228fs) rs2544576934
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12701_12702del (p.Glu4234fs) rs1596471547
NM_001009944.3(PKD1):c.12711C>G (p.Tyr4237Ter) rs906771712
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.12767C>T (p.Ala4256Val)
NM_001009944.3(PKD1):c.12781G>A (p.Gly4261Ser) rs2091385750
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.12810G>A (p.Leu4270=)
NM_001009944.3(PKD1):c.12812C>T (p.Pro4271Leu)
NM_001009944.3(PKD1):c.12814_12826del (p.Ser4272fs)
NM_001009944.3(PKD1):c.12819C>T (p.Arg4273=) rs2091381361
NM_001009944.3(PKD1):c.12824C>T (p.Ala4275Val) rs1211572683
NM_001009944.3(PKD1):c.12828G>A (p.Arg4276=)
NM_001009944.3(PKD1):c.12831C>T (p.Ala4277=)
NM_001009944.3(PKD1):c.12833G>A (p.Ser4278Asn)
NM_001009944.3(PKD1):c.12835C>T (p.Arg4279Trp)
NM_001009944.3(PKD1):c.12843G>A (p.Val4281=) rs2091378699
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.1286G>T (p.Trp429Leu) rs1567216472
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr) rs2092660647
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1379T>G (p.Val460Gly) rs2092659177
NM_001009944.3(PKD1):c.1385+12del rs1357257296
NM_001009944.3(PKD1):c.1385+13del rs2092658494
NM_001009944.3(PKD1):c.1385+1G>C
NM_001009944.3(PKD1):c.1386-7C>T
NM_001009944.3(PKD1):c.1388G>A (p.Ser463Asn)
NM_001009944.3(PKD1):c.1391del (p.Leu464fs) rs2092649198
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1447C>T (p.Gln483Ter)
NM_001009944.3(PKD1):c.151T>G (p.Cys51Gly) rs2151858256
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys) rs750798165
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser) rs1555458683
NM_001009944.3(PKD1):c.1607-4C>T
NM_001009944.3(PKD1):c.160_166dup (p.Leu56fs)
NM_001009944.3(PKD1):c.1630CTC[1] (p.Leu545del) rs1596585121
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1662G>C (p.Gln554His)
NM_001009944.3(PKD1):c.1662_1678delinsCAG (p.Gln554fs)
NM_001009944.3(PKD1):c.1681del (p.Ala561fs)
NM_001009944.3(PKD1):c.1699_1700del (p.Ala568fs) rs2544869651
NM_001009944.3(PKD1):c.171_191del (p.Thr58_Arg64del)
NM_001009944.3(PKD1):c.1722+6C>T
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.1768_1769del (p.Thr590fs)
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter) rs2092629130
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.1849+1G>T rs2092628618
NM_001009944.3(PKD1):c.1854C>G (p.Thr618=)
NM_001009944.3(PKD1):c.1869C>T (p.Ser623=)
NM_001009944.3(PKD1):c.1870G>A (p.Glu624Lys)
NM_001009944.3(PKD1):c.1938dup (p.Cys647fs)
NM_001009944.3(PKD1):c.1942C>T (p.Pro648Ser)
NM_001009944.3(PKD1):c.1948G>C (p.Ala650Pro)
NM_001009944.3(PKD1):c.1964C>T (p.Pro655Leu)
NM_001009944.3(PKD1):c.2049G>A (p.Trp683Ter)
NM_001009944.3(PKD1):c.2053G>T (p.Glu685Ter)
NM_001009944.3(PKD1):c.206C>T (p.Ala69Val) rs2151858171
NM_001009944.3(PKD1):c.2076G>A (p.Ala692=) rs1317987043
NM_001009944.3(PKD1):c.2097+211_6915+1del
NM_001009944.3(PKD1):c.2102C>A (p.Thr701Asn) rs1456789343
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter) rs2092604224
NM_001009944.3(PKD1):c.2136T>C (p.Gly712=) rs565591302
NM_001009944.3(PKD1):c.2143_6915+1del
NM_001009944.3(PKD1):c.215+4_215+5insACAG rs1555462432
NM_001009944.3(PKD1):c.2160C>T (p.Asp720=)
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.2189C>T (p.Ser730Leu)
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) rs747483368
NM_001009944.3(PKD1):c.2244G>C (p.Ser748=) rs557661193
NM_001009944.3(PKD1):c.2250G>A (p.Trp750Ter) rs2092601367
NM_001009944.3(PKD1):c.2253G>T (p.Leu751=)
NM_001009944.3(PKD1):c.2306T>G (p.Leu769Arg) rs2092600592
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser) rs2092686792
NM_001009944.3(PKD1):c.2367A>G (p.Gly789=)
NM_001009944.3(PKD1):c.236T>C (p.Leu79Pro)
NM_001009944.3(PKD1):c.236T>G (p.Leu79Arg)
NM_001009944.3(PKD1):c.2387A>C (p.Tyr796Ser)
NM_001009944.3(PKD1):c.2436del (p.Cys813fs)
NM_001009944.3(PKD1):c.2438G>T (p.Cys813Phe) rs2092598008
NM_001009944.3(PKD1):c.2452G>C (p.Val818Leu) rs2092597752
NM_001009944.3(PKD1):c.2457C>T (p.Ser819=) rs1454717343
NM_001009944.3(PKD1):c.2490C>G (p.Ala830=)
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2502C>T (p.Gly834=)
NM_001009944.3(PKD1):c.2511C>G (p.Tyr837Ter)
NM_001009944.3(PKD1):c.2528C>G (p.Ser843Ter) rs2092596212
NM_001009944.3(PKD1):c.2573C>T (p.Thr858Met)
NM_001009944.3(PKD1):c.25C>A (p.Leu9Met)
NM_001009944.3(PKD1):c.2605del (p.Arg869fs) rs2092594790
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs) rs1596575646
NM_001009944.3(PKD1):c.2660G>A (p.Trp887Ter) rs769587438
NM_001009944.3(PKD1):c.2695C>G (p.Leu899Val)
NM_001009944.3(PKD1):c.2711_2712del (p.Glu904fs)
NM_001009944.3(PKD1):c.2722G>A (p.Val908Met)
NM_001009944.3(PKD1):c.2746A>G (p.Ser916Gly)
NM_001009944.3(PKD1):c.2759C>G (p.Ala920Gly) rs1555457748
NM_001009944.3(PKD1):c.2775G>C (p.Arg925=)
NM_001009944.3(PKD1):c.2777_2789del (p.Val926fs) rs2092590647
NM_001009944.3(PKD1):c.2781G>T (p.Thr927=)
NM_001009944.3(PKD1):c.2783C>T (p.Ala928Val)
NM_001009944.3(PKD1):c.2811C>T (p.Ala937=)
NM_001009944.3(PKD1):c.2830C>T (p.Arg944Cys)
NM_001009944.3(PKD1):c.2837dup (p.Gln947fs)
NM_001009944.3(PKD1):c.2848del (p.Val949_Leu950insTer)
NM_001009944.3(PKD1):c.2853+10G>T
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.2853+5G>A
NM_001009944.3(PKD1):c.2858A>C (p.Tyr953Ser)
NM_001009944.3(PKD1):c.287+15G>A
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.2879G>T (p.Gly960Val)
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.288-6_288-5del rs2092684439
NM_001009944.3(PKD1):c.2906T>C (p.Ile969Thr)
NM_001009944.3(PKD1):c.290del (p.Asp97fs) rs2092684328
NM_001009944.3(PKD1):c.2914A>T (p.Lys972Ter) rs2092566273
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.2958_2959del (p.Tyr986_Gln987delinsTer)
NM_001009944.3(PKD1):c.2961_2977del (p.Ser988fs)
NM_001009944.3(PKD1):c.2966_2985+48del
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=) rs1324429294
NM_001009944.3(PKD1):c.2968_2969delinsCT (p.Ala990Leu) rs2544844757
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs) rs2544844763
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del) rs2544885084
NM_001009944.3(PKD1):c.2981T>G (p.Leu994Arg)
NM_001009944.3(PKD1):c.2985+1G>A
NM_001009944.3(PKD1):c.2985_2985+3del rs1382386686
NM_001009944.3(PKD1):c.2986-12del rs2092557921
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.2987T>C (p.Leu996Pro)
NM_001009944.3(PKD1):c.2992G>C (p.Ala998Pro) rs2092557509
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp) rs2092684149
NM_001009944.3(PKD1):c.3026A>G (p.Tyr1009Cys)
NM_001009944.3(PKD1):c.3034dup (p.Thr1012fs)
NM_001009944.3(PKD1):c.3036C>T (p.Thr1012=)
NM_001009944.3(PKD1):c.304A>T (p.Lys102Ter) rs2092684104
NM_001009944.3(PKD1):c.308T>C (p.Ile103Thr)
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3113C>A (p.Ala1038Glu)
NM_001009944.3(PKD1):c.3161+5G>A rs2092552533
NM_001009944.3(PKD1):c.3182dup (p.Gln1062fs)
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.320AAG[1] (p.Glu108del)
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser) rs2092538545
NM_001009944.3(PKD1):c.3244dup (p.Val1082fs)
NM_001009944.3(PKD1):c.3275_3276delinsCC (p.Met1092Thr) rs2151804169
NM_001009944.3(PKD1):c.3295+2T>G rs2092536098
NM_001009944.3(PKD1):c.3304C>G (p.Leu1102Val)
NM_001009944.3(PKD1):c.3331_3333del (p.Phe1111del)
NM_001009944.3(PKD1):c.3332_3334del (p.Phe1111_Glu1112delinsTer)
NM_001009944.3(PKD1):c.3341T>C (p.Leu1114Pro)
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3356dup (p.Val1120fs)
NM_001009944.3(PKD1):c.3370_3371dup (p.Ser1125fs)
NM_001009944.3(PKD1):c.3412C>T (p.Leu1138=)
NM_001009944.3(PKD1):c.3425G>A (p.Arg1142Gln)
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3477C>G (p.Tyr1159Ter)
NM_001009944.3(PKD1):c.3479C>T (p.Thr1160Met)
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=) rs151026121
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys) rs1483748105
NM_001009944.3(PKD1):c.3486_3489delinsGTTT (p.Asp1162Glu) rs2092509681
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.3494A>T (p.Asp1165Val)
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3514C>T (p.Gln1172Ter)
NM_001009944.3(PKD1):c.3516G>C (p.Gln1172His)
NM_001009944.3(PKD1):c.3521_3524del (p.Gln1174fs)
NM_001009944.3(PKD1):c.3548C>G (p.Ser1183Trp)
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu) rs551162125
NM_001009944.3(PKD1):c.3565G>A (p.Val1189Met)
NM_001009944.3(PKD1):c.3571C>G (p.Leu1191Val)
NM_001009944.3(PKD1):c.3572_3573insA (p.Glu1192fs) rs2092507274
NM_001009944.3(PKD1):c.359+2T>G rs2092683440
NM_001009944.3(PKD1):c.3599C>T (p.Ala1200Val) rs753833996
NM_001009944.3(PKD1):c.3601del (p.Ala1201fs) rs2092506499
NM_001009944.3(PKD1):c.3613G>C (p.Asp1205His)
NM_001009944.3(PKD1):c.3636C>T (p.Leu1212=) rs753613908
NM_001009944.3(PKD1):c.363C>T (p.Asn121=)
NM_001009944.3(PKD1):c.3644T>G (p.Leu1215Arg)
NM_001009944.3(PKD1):c.365T>C (p.Leu122Pro)
NM_001009944.3(PKD1):c.3679G>A (p.Ala1227Thr)
NM_001009944.3(PKD1):c.3704T>A (p.Val1235Glu)
NM_001009944.3(PKD1):c.3711G>A (p.Thr1237=)
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter) rs2092501974
NM_001009944.3(PKD1):c.3728G>C (p.Trp1243Ser)
NM_001009944.3(PKD1):c.3730A>C (p.Thr1244Pro)
NM_001009944.3(PKD1):c.3741G>T (p.Met1247Ile)
NM_001009944.3(PKD1):c.3743G>C (p.Gly1248Ala)
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs) rs2544827572
NM_001009944.3(PKD1):c.3838G>A (p.Ala1280Thr)
NM_001009944.3(PKD1):c.383A>C (p.Glu128Ala)
NM_001009944.3(PKD1):c.3864C>T (p.His1288=)
NM_001009944.3(PKD1):c.3868C>G (p.Leu1290Val)
NM_001009944.3(PKD1):c.3894C>T (p.Arg1298=)
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro) rs2092941758
NM_001009944.3(PKD1):c.3925C>G (p.Pro1309Ala) rs374776444
NM_001009944.3(PKD1):c.3931G>A (p.Ala1311Thr) rs146169133
NM_001009944.3(PKD1):c.3931G>T (p.Ala1311Ser) rs146169133
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs) rs2151799399
NM_001009944.3(PKD1):c.3972C>A (p.Tyr1324Ter)
NM_001009944.3(PKD1):c.4011G>A (p.Thr1337=)
NM_001009944.3(PKD1):c.4029G>A (p.Pro1343=)
NM_001009944.3(PKD1):c.4031C>T (p.Thr1344Met)
NM_001009944.3(PKD1):c.4039C>G (p.His1347Asp) rs774648280
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs) rs2092491511
NM_001009944.3(PKD1):c.4044C>T (p.Asn1348=)
NM_001009944.3(PKD1):c.4050G>A (p.Thr1350=)
NM_001009944.3(PKD1):c.4057G>T (p.Gly1353Cys)
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro) rs2092490160
NM_001009944.3(PKD1):c.40GGCCTG[3] (p.Leu17_Trp18insGlyLeu)
NM_001009944.3(PKD1):c.411G>A (p.Pro137=)
NM_001009944.3(PKD1):c.4120_4122del (p.Ile1374del)
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly) rs149210297
NM_001009944.3(PKD1):c.4136A>T (p.Glu1379Val) rs149210297
NM_001009944.3(PKD1):c.4156C>T (p.Gln1386Ter)
NM_001009944.3(PKD1):c.4168C>T (p.Gln1390Ter) rs2092487764
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu) rs2544883158
NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter) rs890465248
NM_001009944.3(PKD1):c.4274G>T (p.Arg1425Leu)
NM_001009944.3(PKD1):c.4276_4277delinsA (p.Ala1426fs) rs2092484442
NM_001009944.3(PKD1):c.4304A>G (p.Tyr1435Cys)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4328T>G (p.Val1443Gly) rs2092482898
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4370C>T (p.Ser1457Leu)
NM_001009944.3(PKD1):c.4448A>C (p.Gln1483Pro)
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4456C>T (p.Leu1486=) rs1327407759
NM_001009944.3(PKD1):c.4461del (p.Ser1488fs) rs1555455998
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg) rs2092478372
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.4557C>T (p.Ser1519=)
NM_001009944.3(PKD1):c.4577G>C (p.Arg1526Thr)
NM_001009944.3(PKD1):c.4619T>C (p.Leu1540Pro)
NM_001009944.3(PKD1):c.4646G>C (p.Arg1549Pro) rs530555146
NM_001009944.3(PKD1):c.464G>A (p.Cys155Tyr)
NM_001009944.3(PKD1):c.4653C>T (p.Leu1551=)
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=) rs114489044
NM_001009944.3(PKD1):c.4704C>A (p.Phe1568Leu)
NM_001009944.3(PKD1):c.4793C>T (p.Ser1598Phe)
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs) rs2544818419
NM_001009944.3(PKD1):c.4796dup (p.Tyr1599Ter) rs1596557742
NM_001009944.3(PKD1):c.4824T>C (p.Asn1608=) rs569136450
NM_001009944.3(PKD1):c.4824_4826dup (p.Ile1610dup) rs2151796171
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4868_4869dup (p.Ile1624fs)
NM_001009944.3(PKD1):c.4884C>T (p.Val1628=)
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4910_4916dup (p.Tyr1643fs)
NM_001009944.3(PKD1):c.4923C>T (p.Gly1641=)
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.4963G>A (p.Val1655Met) rs149671582
NM_001009944.3(PKD1):c.496C>T (p.Leu166=)
NM_001009944.3(PKD1):c.4982A>T (p.Asn1661Ile) rs1440789964
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del) rs1596556896
NM_001009944.3(PKD1):c.5006G>A (p.Trp1669Ter) rs769439901
NM_001009944.3(PKD1):c.5028G>A (p.Leu1676=) rs2092461515
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=) rs144091742
NM_001009944.3(PKD1):c.5047_5051del (p.Phe1683fs) rs2092460746
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5092C>T (p.Arg1698Trp) rs141871028
NM_001009944.3(PKD1):c.5143G>A (p.Val1715Met)
NM_001009944.3(PKD1):c.5178C>T (p.Ser1726=)
NM_001009944.3(PKD1):c.5181G>A (p.Pro1727=)
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter) rs2092456617
NM_001009944.3(PKD1):c.5223G>A (p.Glu1741=) rs779556506
NM_001009944.3(PKD1):c.5252C>T (p.Thr1751Ile)
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.5272del (p.Gly1757_Leu1758insTer)
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu) rs577487876
NM_001009944.3(PKD1):c.52T>C (p.Trp18Arg)
NM_001009944.3(PKD1):c.530-27_530-26dup
NM_001009944.3(PKD1):c.5301del (p.Thr1768fs) rs2092454886
NM_001009944.3(PKD1):c.5310C>T (p.Ser1770=)
NM_001009944.3(PKD1):c.5322C>T (p.Pro1774=)
NM_001009944.3(PKD1):c.5414T>A (p.Leu1805His)
NM_001009944.3(PKD1):c.541_542dup (p.Ala182fs)
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.5560A>C (p.Met1854Leu)
NM_001009944.3(PKD1):c.5594G>C (p.Arg1865Pro)
NM_001009944.3(PKD1):c.5607dup (p.Asn1870fs)
NM_001009944.3(PKD1):c.5637C>A (p.Tyr1879Ter) rs2092447380
NM_001009944.3(PKD1):c.5662G>A (p.Val1888Met)
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) rs1304952446
NM_001009944.3(PKD1):c.5710_5713dup (p.Val1905fs)
NM_001009944.3(PKD1):c.5753C>T (p.Thr1918Ile) rs878915702
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs) rs2092444151
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs) rs2092443264
NM_001009944.3(PKD1):c.5820C>G (p.Phe1940Leu)
NM_001009944.3(PKD1):c.5825G>A (p.Arg1942His)
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.5861dup (p.Asn1954fs)
NM_001009944.3(PKD1):c.5865C>A (p.His1955Gln) rs145225830
NM_001009944.3(PKD1):c.5886_5893del (p.Gln1962fs) rs2092440281
NM_001009944.3(PKD1):c.5895C>T (p.Ile1965=)
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del) rs1555454847
NM_001009944.3(PKD1):c.590T>G (p.Phe197Cys)
NM_001009944.3(PKD1):c.5921T>G (p.Leu1974Arg) rs2092439627
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.5997C>T (p.Gly1999=)
NM_001009944.3(PKD1):c.6021C>A (p.Tyr2007Ter) rs147391291
NM_001009944.3(PKD1):c.6026C>G (p.Ser2009Trp)
NM_001009944.3(PKD1):c.603C>G (p.His201Gln) rs13334842
NM_001009944.3(PKD1):c.603C>T (p.His201=) rs13334842
NM_001009944.3(PKD1):c.6050C>A (p.Ser2017Ter)
NM_001009944.3(PKD1):c.6057C>T (p.Val2019=)
NM_001009944.3(PKD1):c.6062T>C (p.Leu2021Pro) rs2092435927
NM_001009944.3(PKD1):c.6063G>A (p.Leu2021=)
NM_001009944.3(PKD1):c.6089C>A (p.Pro2030His) rs2544806086
NM_001009944.3(PKD1):c.6115dup (p.Gln2039fs)
NM_001009944.3(PKD1):c.6116A>C (p.Gln2039Pro) rs2092434606
NM_001009944.3(PKD1):c.6131A>T (p.Asn2044Ile)
NM_001009944.3(PKD1):c.6147_6148del (p.Asn2050fs) rs2092433535
NM_001009944.3(PKD1):c.6151C>T (p.Arg2051Cys)
NM_001009944.3(PKD1):c.6179C>G (p.Ala2060Gly) rs753999046
NM_001009944.3(PKD1):c.6196_6205delinsT (p.Leu2066_Gly2069delinsCys)
NM_001009944.3(PKD1):c.6197_6209del (p.Leu2066fs) rs2092431000
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6207C>T (p.Gly2069=) rs1478973195
NM_001009944.3(PKD1):c.6250AGCCCC[3] (p.Pro2087_Arg2088insSerPro)
NM_001009944.3(PKD1):c.6251del (p.Ser2084fs)
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter) rs1555454512
NM_001009944.3(PKD1):c.6323_6330delinsACTCCTACCT (p.Pro2108fs) rs2092427579
NM_001009944.3(PKD1):c.6323_6334del (p.Pro2108_Glu2111del) rs2092427430
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter) rs762911981
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp) rs2151788281
NM_001009944.3(PKD1):c.6405G>A (p.Ala2135=)
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) rs2092425533
NM_001009944.3(PKD1):c.641G>T (p.Cys214Phe)
NM_001009944.3(PKD1):c.6430C>G (p.Leu2144Val)
NM_001009944.3(PKD1):c.6440_6467del (p.Arg2147fs) rs1567192790
NM_001009944.3(PKD1):c.6447G>A (p.Pro2149=)
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter) rs2092423837
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.6512C>T (p.Ala2171Val) rs755655916
NM_001009944.3(PKD1):c.6532T>C (p.Cys2178Arg) rs1358817073
NM_001009944.3(PKD1):c.6535G>A (p.Val2179Ile)
NM_001009944.3(PKD1):c.6560G>A (p.Trp2187Ter) rs1161210869
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs) rs2092420672
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6588G>A (p.Gln2196=) rs2092420452
NM_001009944.3(PKD1):c.6625G>T (p.Val2209Leu) rs745677305
NM_001009944.3(PKD1):c.6642_6656del (p.Val2217_Leu2221del)
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6658C>T (p.Arg2220Trp) rs769509393
NM_001009944.3(PKD1):c.6714C>G (p.Asp2238Glu) rs2092416905
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6727_6730del (p.Gln2243fs)
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.6741del (p.Asn2248fs)
NM_001009944.3(PKD1):c.6748A>T (p.Thr2250Ser)
NM_001009944.3(PKD1):c.6777C>A (p.Ile2259=)
NM_001009944.3(PKD1):c.6779T>G (p.Ile2260Ser)
NM_001009944.3(PKD1):c.6792A>C (p.Ser2264=) rs142928249
NM_001009944.3(PKD1):c.6819C>T (p.Asp2273=) rs372298966
NM_001009944.3(PKD1):c.6826C>G (p.Leu2276Val) rs2092413572
NM_001009944.3(PKD1):c.6831T>A (p.Asp2277Glu) rs2092413339
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg) rs1555454145
NM_001009944.3(PKD1):c.6842C>T (p.Ser2281Phe)
NM_001009944.3(PKD1):c.6875C>T (p.Thr2292Met)
NM_001009944.3(PKD1):c.688T>G (p.Cys230Gly)
NM_001009944.3(PKD1):c.6894G>A (p.Trp2298Ter)
NM_001009944.3(PKD1):c.6908C>T (p.Ser2303Leu)
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.6998G>A (p.Gly2333Asp)
NM_001009944.3(PKD1):c.7008C>T (p.Tyr2336=)
NM_001009944.3(PKD1):c.7023C>T (p.Thr2341=) rs555685116
NM_001009944.3(PKD1):c.7065+105CT[2]
NM_001009944.3(PKD1):c.7065+14G>C
NM_001009944.3(PKD1):c.7066-4C>G
NM_001009944.3(PKD1):c.7105dup (p.Glu2369fs)
NM_001009944.3(PKD1):c.7110T>C (p.Cys2370=)
NM_001009944.3(PKD1):c.7115C>G (p.Ser2372Cys) rs2544784984
NM_001009944.3(PKD1):c.7118G>C (p.Cys2373Ser)
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile) rs1555453383
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7226C>A (p.Thr2409Lys)
NM_001009944.3(PKD1):c.7244T>C (p.Leu2415Pro)
NM_001009944.3(PKD1):c.7265C>A (p.Thr2422Lys) rs1555453210
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=) rs573611925
NM_001009944.3(PKD1):c.7342C>G (p.Leu2448Val)
NM_001009944.3(PKD1):c.7350G>T (p.Val2450=) rs2092342494
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del) rs1391744174
NM_001009944.3(PKD1):c.7375G>T (p.Gly2459Cys) rs1555453102
NM_001009944.3(PKD1):c.7382C>A (p.Ala2461Asp)
NM_001009944.3(PKD1):c.7384_7385dup (p.Ile2463fs)
NM_001009944.3(PKD1):c.7391G>A (p.Arg2464His)
NM_001009944.3(PKD1):c.7391G>C (p.Arg2464Pro)
NM_001009944.3(PKD1):c.7415_7416insC (p.Ser2475fs)
NM_001009944.3(PKD1):c.7421_7430del (p.Gly2474fs)
NM_001009944.3(PKD1):c.7421del (p.Gly2474fs) rs1237714286
NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter) rs1453883641
NM_001009944.3(PKD1):c.7428C>G (p.Cys2476Trp)
NM_001009944.3(PKD1):c.7446C>G (p.Gly2482=) rs775215483
NM_001009944.3(PKD1):c.7489+1G>A rs2544779978
NM_001009944.3(PKD1):c.7491C>T (p.Gly2497=)
NM_001009944.3(PKD1):c.7501G>A (p.Ala2501Thr)
NM_001009944.3(PKD1):c.7503G>A (p.Ala2501=)
NM_001009944.3(PKD1):c.7525_7539dup (p.Val2509_Leu2513dup) rs2092331813
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7547G>A (p.Arg2516His)
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter) rs2151772321
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.7575_7576del (p.Phe2525fs)
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs) rs2151772170
NM_001009944.3(PKD1):c.7589G>T (p.Gly2530Val)
NM_001009944.3(PKD1):c.7618C>A (p.Pro2540Thr)
NM_001009944.3(PKD1):c.764C>G (p.Pro255Arg)
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7703+2T>G
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys) rs2092327300
NM_001009944.3(PKD1):c.7703G>T (p.Arg2568Met)
NM_001009944.3(PKD1):c.7706_10050+2dup
NM_001009944.3(PKD1):c.7709T>A (p.Leu2570Ter)
NM_001009944.3(PKD1):c.7734C>G (p.Asn2578Lys)
NM_001009944.3(PKD1):c.7740C>T (p.Ser2580=)
NM_001009944.3(PKD1):c.7749del (p.Leu2584fs) rs2092323231
NM_001009944.3(PKD1):c.7804C>T (p.Gln2602Ter) rs2092321430
NM_001009944.3(PKD1):c.7825_7827del (p.Ile2609del) rs2544775146
NM_001009944.3(PKD1):c.7828G>A (p.Glu2610Lys) rs774694720
NM_001009944.3(PKD1):c.7829A>C (p.Glu2610Ala) rs768882400
NM_001009944.3(PKD1):c.7832_7837delinsGC (p.Tyr2611fs)
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del) rs2544775052
NM_001009944.3(PKD1):c.7843C>T (p.Leu2615=) rs771676768
NM_001009944.3(PKD1):c.7863+1del rs2092319664
NM_001009944.3(PKD1):c.7863G>A (p.Glu2621=)
NM_001009944.3(PKD1):c.7864-1G>T rs2092305301
NM_001009944.3(PKD1):c.7902C>T (p.His2634=)
NM_001009944.3(PKD1):c.790C>T (p.Leu264Phe)
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7956C>A (p.Ser2652=)
NM_001009944.3(PKD1):c.7970C>G (p.Thr2657Ser)
NM_001009944.3(PKD1):c.7973_7974del (p.Val2658fs) rs2092302256
NM_001009944.3(PKD1):c.7978G>T (p.Asp2660Tyr)
NM_001009944.3(PKD1):c.8016+13del
NM_001009944.3(PKD1):c.8017-11G>A rs2092264285
NM_001009944.3(PKD1):c.8017-1G>C rs2092263886
NM_001009944.3(PKD1):c.8017-1_8161+1del
NM_001009944.3(PKD1):c.8017-3C>G rs780785813
NM_001009944.3(PKD1):c.8017-9T>G
NM_001009944.3(PKD1):c.8022del (p.Ser2675fs) rs2092263697
NM_001009944.3(PKD1):c.8049C>G (p.Cys2683Trp)
NM_001009944.3(PKD1):c.8084T>A (p.Met2695Lys)
NM_001009944.3(PKD1):c.8087T>G (p.Leu2696Arg) rs201238819
NM_001009944.3(PKD1):c.8091_8093del (p.Ile2697_Leu2698delinsMet) rs2092261350
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter) rs1222094213
NM_001009944.3(PKD1):c.8116_8125del (p.Thr2706fs) rs2092260381
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu) rs1395231369
NM_001009944.3(PKD1):c.8156T>C (p.Ile2719Thr) rs2092259288
NM_001009944.3(PKD1):c.8184C>T (p.Ser2728=) rs772197330
NM_001009944.3(PKD1):c.8200_8204delinsACACT (p.Pro2734_Gln2735delinsThrLeu) rs2092207908
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001009944.3(PKD1):c.8207C>G (p.Pro2736Arg) rs760592410
NM_001009944.3(PKD1):c.8218G>A (p.Gly2740Arg)
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys) rs202159463
NM_001009944.3(PKD1):c.8248T>C (p.Ser2750Pro)
NM_001009944.3(PKD1):c.8257_8260del (p.Tyr2753fs)
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro) rs145629362
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del) rs1555451280
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8299C>G (p.Arg2767Gly)
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.82C>T (p.Arg28Cys)
NM_001009944.3(PKD1):c.8308_8310del (p.Asn2770del) rs2092203060
NM_001009944.3(PKD1):c.8323_8325dup (p.Thr2775_Leu2776insThr)
NM_001009944.3(PKD1):c.8388T>G (p.Tyr2796Ter) rs2092200060
NM_001009944.3(PKD1):c.8401G>T (p.Gly2801Trp)
NM_001009944.3(PKD1):c.8410del (p.Cys2804fs)
NM_001009944.3(PKD1):c.8411G>A (p.Cys2804Tyr) rs1555451184
NM_001009944.3(PKD1):c.8423T>A (p.Ile2808Asn) rs1567177764
NM_001009944.3(PKD1):c.8429_8433del (p.Glu2810fs)
NM_001009944.3(PKD1):c.843C>T (p.His281=) rs760237424
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8454C>A (p.Asn2818Lys)
NM_001009944.3(PKD1):c.8459G>T (p.Ser2820Ile) rs750662535
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.8538C>T (p.Thr2846=) rs774274728
NM_001009944.3(PKD1):c.8544G>A (p.Val2848=)
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.8549C>T (p.Ser2850Leu)
NM_001009944.3(PKD1):c.8555_8556del (p.Ala2852fs)
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.856_862dup (p.Gln288fs)
NM_001009944.3(PKD1):c.8575G>A (p.Ala2859Thr)
NM_001009944.3(PKD1):c.8594G>A (p.Arg2865Gln)
NM_001009944.3(PKD1):c.8669_8670insTGCCAACTC (p.Ser2896_Val2897insAlaAsnSer)
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.8702C>T (p.Pro2901Leu) rs2092181383
NM_001009944.3(PKD1):c.8749del (p.Ala2917fs) rs2092179583
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu) rs1555450923
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter) rs747638599
NM_001009944.3(PKD1):c.8776T>C (p.Tyr2926His)
NM_001009944.3(PKD1):c.8791+2T>C
NM_001009944.3(PKD1):c.8791+40_10050+3del
NM_001009944.3(PKD1):c.8791+5G>C rs751652400
NM_001009944.3(PKD1):c.8793_10499+1del
NM_001009944.3(PKD1):c.8836del (p.Leu2946fs) rs2092156841
NM_001009944.3(PKD1):c.8837T>C (p.Leu2946Pro)
NM_001009944.3(PKD1):c.8840A>C (p.His2947Pro)
NM_001009944.3(PKD1):c.8873C>T (p.Ser2958Leu)
NM_001009944.3(PKD1):c.890dup (p.Leu298fs)
NM_001009944.3(PKD1):c.8929A>G (p.Thr2977Ala) rs760382745
NM_001009944.3(PKD1):c.8948+12G>A rs369347070
NM_001009944.3(PKD1):c.8948+15C>T rs778271516
NM_001009944.3(PKD1):c.8982C>T (p.Asn2994=)
NM_001009944.3(PKD1):c.8991C>T (p.Ser2997=)
NM_001009944.3(PKD1):c.8C>G (p.Pro3Arg)
NM_001009944.3(PKD1):c.9001T>C (p.Trp3001Arg)
NM_001009944.3(PKD1):c.9028C>T (p.Leu3010=)
NM_001009944.3(PKD1):c.9066C>T (p.Asp3022=)
NM_001009944.3(PKD1):c.9072_9397+1del
NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer) rs1555450424
NM_001009944.3(PKD1):c.9075G>C (p.Trp3025Cys)
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del) rs2544733084
NM_001009944.3(PKD1):c.9118C>T (p.Gln3040Ter)
NM_001009944.3(PKD1):c.911G>A (p.Arg304His) rs574313228
NM_001009944.3(PKD1):c.914G>A (p.Trp305Ter)
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.9186C>A (p.Val3062=)
NM_001009944.3(PKD1):c.9195_9196delinsCC (p.Phe3066Leu) rs372874584
NM_001009944.3(PKD1):c.9213G>A (p.Ala3071=)
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9251G>A (p.Cys3084Tyr) rs2092123424
NM_001009944.3(PKD1):c.9261C>G (p.Thr3087=)
NM_001009944.3(PKD1):c.927C>T (p.Asp309=)
NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter) rs2544730146
NM_001009944.3(PKD1):c.9356A>G (p.Lys3119Arg)
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9396A>G (p.Ser3132=)
NM_001009944.3(PKD1):c.9397+14C>T
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile) rs2092053154
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.9418A>G (p.Ile3140Val)
NM_001009944.3(PKD1):c.9442C>T (p.Arg3148Trp)
NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val) rs2092048001
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.9563A>C (p.Asn3188Thr)
NM_001009944.3(PKD1):c.9568+1G>T rs2092046394
NM_001009944.3(PKD1):c.9568+3T>C rs766423188
NM_001009944.3(PKD1):c.9568+9G>A
NM_001009944.3(PKD1):c.9569-12G>C
NM_001009944.3(PKD1):c.9569-12_9569-11delinsTA
NM_001009944.3(PKD1):c.9578C>T (p.Pro3193Leu)
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) rs1596514027
NM_001009944.3(PKD1):c.9585_9591del (p.Trp3195fs) rs2092039663
NM_001009944.3(PKD1):c.9636C>T (p.Phe3212=)
NM_001009944.3(PKD1):c.9637T>A (p.Phe3213Ile) rs2151740841
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs) rs2151823406
NM_001009944.3(PKD1):c.966_972del (p.His323fs)
NM_001009944.3(PKD1):c.9682G>C (p.Gly3228Arg)
NM_001009944.3(PKD1):c.9711G>A (p.Ala3237=)
NM_001009944.3(PKD1):c.9717C>T (p.Asp3239=)
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9758T>A (p.Leu3253Gln) rs2092025452
NM_001009944.3(PKD1):c.9771_9774del (p.Phe3257fs)
NM_001009944.3(PKD1):c.9791T>C (p.Leu3264Pro)
NM_001009944.3(PKD1):c.9821dup (p.Thr3276fs)
NM_001009944.3(PKD1):c.982C>T (p.Pro328Ser)
NM_001009944.3(PKD1):c.9831C>T (p.Arg3277=)
NM_001009944.3(PKD1):c.9844A>C (p.Thr3282Pro)
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9857T>A (p.Leu3286His)
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001009944.3(PKD1):c.9924-1G>T
NM_001009944.3(PKD1):c.9924-1_10050+1del
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487
NM_001009944.3(PKD1):c.992A>G (p.Tyr331Cys)
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.