ClinVar Miner

List of variants in gene PKD1 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1984
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_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.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00622
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00547
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_001009944.3(PKD1):c.11411+18C>T rs183078730 0.00483
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00429
NM_001009944.3(PKD1):c.7065+21G>A rs9930234 0.00418
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.11346C>T (p.Asp3782=) rs145955373 0.00360
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00352
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00346
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=) rs57870377 0.00331
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=) rs138648495 0.00324
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.3296-15G>A rs201704201 0.00306
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00270
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.12769G>A (p.Gly4257Arg) rs369397443 0.00209
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.3183G>A (p.Glu1061=) rs148727945 0.00165
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.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.3006G>C (p.Val1002=) rs143013095 0.00108
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00105
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00097
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=) rs141138826 0.00094
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=) rs144663361 0.00092
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=) rs149623670 0.00090
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00089
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser) rs200279710 0.00076
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=) rs12102740 0.00073
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=) rs570750726 0.00070
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=) rs373854628 0.00068
NM_001009944.3(PKD1):c.12139-5C>T rs146430229 0.00063
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=) rs149924232 0.00060
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001009944.3(PKD1):c.9713-4C>T rs200434097 0.00058
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=) rs547262346 0.00054
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=) rs2575316 0.00045
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=) rs768813212 0.00041
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=) rs148159605 0.00041
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654 0.00039
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860 0.00038
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00036
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=) rs373880615 0.00033
NM_001009944.3(PKD1):c.10619-13del rs562614426 0.00033
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00033
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=) rs375408086 0.00033
NM_001009944.3(PKD1):c.951T>C (p.Ala317=) rs540366995 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=) rs141132307 0.00031
NM_001009944.3(PKD1):c.10221-14C>T rs201207354 0.00029
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00026
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.8550G>A (p.Ser2850=) rs145648167 0.00023
NM_001009944.3(PKD1):c.10822-8C>G rs9924796 0.00022
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_001009944.3(PKD1):c.288-20G>A rs572319823 0.00021
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) rs950293866 0.00020
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr) rs201599671 0.00020
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_001009944.3(PKD1):c.6915+19C>T rs371376951 0.00019
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.2896C>T (p.Arg966Trp) rs746771378 0.00017
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=) rs377662680 0.00017
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=) rs759092782 0.00016
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln) rs759950842 0.00016
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=) rs767721989 0.00016
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys) rs765009165 0.00016
NM_001009944.3(PKD1):c.10161C>T (p.His3387=) rs143350197 0.00015
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326 0.00015
NM_001009944.3(PKD1):c.543C>T (p.Val181=) rs1365608859 0.00015
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=) rs530703053 0.00015
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu) rs200646755 0.00015
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=) rs372759889 0.00015
NM_001009944.3(PKD1):c.8176C>T (p.Leu2726=) rs573754849 0.00015
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser) rs146527465 0.00014
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) rs760315179 0.00014
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=) rs764827551 0.00014
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=) rs199988586 0.00014
NM_001009944.3(PKD1):c.4193C>T (p.Ala1398Val) rs147796956 0.00013
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser) rs780408550 0.00013
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=) rs183090717 0.00013
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 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.5661C>T (p.Ile1887=) rs372696163 0.00012
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00011
NM_001009944.3(PKD1):c.726T>C (p.Phe242=) rs750727364 0.00011
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=) rs757969966 0.00011
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=) rs990065629 0.00010
NM_001009944.3(PKD1):c.7906C>T (p.Arg2636Trp) rs200907085 0.00010
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=) rs142391112 0.00010
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_001009944.3(PKD1):c.10391C>T (p.Ser3464Phe) rs375501810 0.00009
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) rs201417193 0.00009
NM_001009944.3(PKD1):c.12051G>C (p.Lys4017Asn) rs151044657 0.00009
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr) rs201035636 0.00009
NM_001009944.3(PKD1):c.12648A>C (p.Gln4216His) rs751511886 0.00009
NM_001009944.3(PKD1):c.1673C>T (p.Thr558Met) rs781572938 0.00009
NM_001009944.3(PKD1):c.5449G>A (p.Val1817Met) rs149713462 0.00009
NM_001009944.3(PKD1):c.6457G>A (p.Val2153Met) rs779219568 0.00009
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560 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.910C>T (p.Arg304Cys) rs543328728 0.00009
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala) rs766549097 0.00008
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe) rs543561238 0.00008
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=) rs146915755 0.00008
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln) rs62038819 0.00008
NM_001009944.3(PKD1):c.8016+7T>C rs746089639 0.00008
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=) rs1159235832 0.00008
NM_001009944.3(PKD1):c.10366G>A (p.Ala3456Thr) rs370498086 0.00007
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=) rs1344519371 0.00007
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) rs544092291 0.00007
NM_001009944.3(PKD1):c.6098C>T (p.Ala2033Val) rs557932393 0.00007
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val) rs769636582 0.00007
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys) rs554493059 0.00007
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411 0.00007
NM_001009944.3(PKD1):c.37C>G (p.Leu13Val) rs982042024 0.00006
NM_001009944.3(PKD1):c.4019G>A (p.Arg1340Gln) rs377331478 0.00006
NM_001009944.3(PKD1):c.413G>A (p.Arg138Gln) rs2515725 0.00006
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr) rs374424212 0.00006
NM_001009944.3(PKD1):c.5180C>T (p.Pro1727Leu) rs373060372 0.00006
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr) rs779342040 0.00006
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val) rs1353004865 0.00006
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys) rs777608163 0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161 0.00006
NM_001009944.3(PKD1):c.8921G>A (p.Arg2974Gln) rs369012743 0.00006
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=) rs748123570 0.00005
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg) rs1050939771 0.00005
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser) rs752995047 0.00005
NM_001009944.3(PKD1):c.4541C>G (p.Thr1514Ser) rs779030441 0.00005
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=) rs759043048 0.00005
NM_001009944.3(PKD1):c.4737C>T (p.Arg1579=) rs765027813 0.00005
NM_001009944.3(PKD1):c.5571G>A (p.Pro1857=) rs564598290 0.00005
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=) rs556708086 0.00005
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096 0.00005
NM_001009944.3(PKD1):c.6070C>T (p.Arg2024Cys) rs199943712 0.00005
NM_001009944.3(PKD1):c.6227C>T (p.Ser2076Leu) rs758919000 0.00005
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys) rs781114712 0.00005
NM_001009944.3(PKD1):c.7466C>G (p.Thr2489Ser) rs754358218 0.00005
NM_001009944.3(PKD1):c.7516G>A (p.Ala2506Thr) rs755942659 0.00005
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu) rs151308544 0.00005
NM_001009944.3(PKD1):c.8559C>G (p.Phe2853Leu) rs757471042 0.00005
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser) rs142733588 0.00005
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys) rs773857360 0.00005
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser) rs886265852 0.00005
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys) rs531854741 0.00005
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=) rs770635587 0.00005
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser) rs781492044 0.00004
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys) rs553106581 0.00004
NM_001009944.3(PKD1):c.11954C>G (p.Ser3985Cys) rs749274013 0.00004
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg) rs776110243 0.00004
NM_001009944.3(PKD1):c.2550C>G (p.Asp850Glu) rs750466610 0.00004
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=) rs377661579 0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001009944.3(PKD1):c.4355C>T (p.Ser1452Phe) rs767435117 0.00004
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=) rs142035983 0.00004
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=) rs772143717 0.00004
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro) rs773527738 0.00004
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu) rs767363184 0.00004
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe) rs771932172 0.00004
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys) rs754486194 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys) rs367918229 0.00004
NM_001009944.3(PKD1):c.747C>T (p.Ser249=) rs568816990 0.00004
NM_001009944.3(PKD1):c.7615C>G (p.Leu2539Val) rs756322717 0.00004
NM_001009944.3(PKD1):c.7767C>T (p.His2589=) rs555499745 0.00004
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) rs202086892 0.00004
NM_001009944.3(PKD1):c.8708C>T (p.Ala2903Val) rs777129763 0.00004
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=) rs535771951 0.00004
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr) rs533152302 0.00004
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile) rs754956606 0.00003
NM_001009944.3(PKD1):c.11157-9C>G rs1191413154 0.00003
NM_001009944.3(PKD1):c.11344G>A (p.Asp3782Asn) rs758307192 0.00003
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile) rs200120839 0.00003
NM_001009944.3(PKD1):c.11813G>A (p.Arg3938Gln) rs944432348 0.00003
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg) rs760873748 0.00003
NM_001009944.3(PKD1):c.12039C>T (p.Ser4013=) rs200796474 0.00003
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp) rs889547396 0.00003
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala) rs1341672915 0.00003
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg) rs536050342 0.00003
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser) rs1320256969 0.00003
NM_001009944.3(PKD1):c.2222C>T (p.Pro741Leu) rs779605081 0.00003
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_001009944.3(PKD1):c.2396G>A (p.Arg799Gln) rs766489466 0.00003
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp) rs773426104 0.00003
NM_001009944.3(PKD1):c.2495G>A (p.Arg832His) rs565256491 0.00003
NM_001009944.3(PKD1):c.263C>T (p.Ala88Val) rs958271752 0.00003
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn) rs773329559 0.00003
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys) rs1085307552 0.00003
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys) rs770755888 0.00003
NM_001009944.3(PKD1):c.3364G>A (p.Val1122Met) rs757714318 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.3620G>A (p.Arg1207His) rs771645362 0.00003
NM_001009944.3(PKD1):c.3768G>A (p.Pro1256=) rs770836714 0.00003
NM_001009944.3(PKD1):c.3827C>T (p.Ala1276Val) rs776429943 0.00003
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=) rs781761438 0.00003
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) rs1567200098 0.00003
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met) rs368161263 0.00003
NM_001009944.3(PKD1):c.4918G>A (p.Gly1640Ser) rs781184044 0.00003
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser) rs552542784 0.00003
NM_001009944.3(PKD1):c.5132C>T (p.Thr1711Ile) rs750076336 0.00003
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr) rs779607937 0.00003
NM_001009944.3(PKD1):c.5645C>T (p.Thr1882Met) rs772716160 0.00003
NM_001009944.3(PKD1):c.5699C>T (p.Ala1900Val) rs140902597 0.00003
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His) rs776028509 0.00003
NM_001009944.3(PKD1):c.5777C>T (p.Ala1926Val) rs754890213 0.00003
NM_001009944.3(PKD1):c.6001C>T (p.Arg2001Trp) rs773069152 0.00003
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071 0.00003
NM_001009944.3(PKD1):c.6230C>T (p.Ala2077Val) rs142493877 0.00003
NM_001009944.3(PKD1):c.6301C>T (p.Pro2101Ser) rs145266746 0.00003
NM_001009944.3(PKD1):c.6440G>A (p.Arg2147Gln) rs771035065 0.00003
NM_001009944.3(PKD1):c.6605C>T (p.Ala2202Val) rs764264106 0.00003
NM_001009944.3(PKD1):c.664G>A (p.Ala222Thr) rs1391867937 0.00003
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val) rs761726794 0.00003
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189 0.00003
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062 0.00003
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00003
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val) rs779137772 0.00003
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val) rs780284563 0.00003
NM_001009944.3(PKD1):c.9764G>A (p.Arg3255His) rs1052458360 0.00003
NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp) rs980803513 0.00003
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile) rs201780393 0.00003
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175 0.00003
NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu) rs779271659 0.00002
NM_001009944.3(PKD1):c.11198C>T (p.Pro3733Leu) rs2091644809 0.00002
NM_001009944.3(PKD1):c.1133A>G (p.Gln378Arg) rs2092665938 0.00002
NM_001009944.3(PKD1):c.11713-3C>T rs754015180 0.00002
NM_001009944.3(PKD1):c.12226C>G (p.Pro4076Ala) rs375653663 0.00002
NM_001009944.3(PKD1):c.12415C>T (p.Leu4139Phe) rs373984948 0.00002
NM_001009944.3(PKD1):c.12871C>A (p.Pro4291Thr) rs1041724463 0.00002
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys) rs765408067 0.00002
NM_001009944.3(PKD1):c.169C>T (p.Arg57Trp) rs1315029199 0.00002
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro) rs1300272809 0.00002
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val) rs775988021 0.00002
NM_001009944.3(PKD1):c.2602G>A (p.Ala868Thr) rs769711984 0.00002
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=) rs754575596 0.00002
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=) rs776410570 0.00002
NM_001009944.3(PKD1):c.4472G>T (p.Gly1491Val) rs376028977 0.00002
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918 0.00002
NM_001009944.3(PKD1):c.5210C>T (p.Thr1737Ile) rs773343118 0.00002
NM_001009944.3(PKD1):c.5362G>C (p.Gly1788Arg) rs1361499651 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys) rs375006983 0.00002
NM_001009944.3(PKD1):c.7222C>T (p.Arg2408Cys) rs538769374 0.00002
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly) rs3874655 0.00002
NM_001009944.3(PKD1):c.788C>A (p.Thr263Asn) rs900664088 0.00002
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile) rs566531762 0.00002
NM_001009944.3(PKD1):c.8161+4C>T rs766547394 0.00002
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341 0.00002
NM_001009944.3(PKD1):c.8795A>G (p.His2932Arg) rs201524173 0.00002
NM_001009944.3(PKD1):c.9334T>C (p.Cys3112Arg) rs1405051804 0.00002
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His) rs1063405 0.00002
NM_001009944.3(PKD1):c.9713-17C>G rs766238514 0.00002
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met) rs1459100196 0.00002
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys) rs1287231217 0.00001
NM_001009944.3(PKD1):c.10050+10G>C rs746704728 0.00001
NM_001009944.3(PKD1):c.10064C>T (p.Pro3355Leu) rs781263445 0.00001
NM_001009944.3(PKD1):c.10453G>T (p.Ala3485Ser) rs2091883615 0.00001
NM_001009944.3(PKD1):c.10481C>T (p.Thr3494Met) rs752503970 0.00001
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met) rs1428207672 0.00001
NM_001009944.3(PKD1):c.10904C>A (p.Ala3635Asp) rs748561600 0.00001
NM_001009944.3(PKD1):c.10940G>A (p.Arg3647Gln) rs1415072762 0.00001
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs) rs2091618729 0.00001
NM_001009944.3(PKD1):c.11942C>T (p.Ala3981Val) rs1424119004 0.00001
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter) rs1567148587 0.00001
NM_001009944.3(PKD1):c.1207C>T (p.His403Tyr) rs999510631 0.00001
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser) rs1363663761 0.00001
NM_001009944.3(PKD1):c.12387G>A (p.Met4129Ile) rs750629950 0.00001
NM_001009944.3(PKD1):c.12526C>T (p.Pro4176Ser) rs755976712 0.00001
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro) rs1230641065 0.00001
NM_001009944.3(PKD1):c.12758G>A (p.Arg4253Gln) rs771695253 0.00001
NM_001009944.3(PKD1):c.1754G>A (p.Arg585His) rs753885924 0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031 0.00001
NM_001009944.3(PKD1):c.2279G>T (p.Gly760Val) rs759750588 0.00001
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile) rs928084406 0.00001
NM_001009944.3(PKD1):c.2377C>T (p.Pro793Ser) rs762974428 0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val) rs1393997103 0.00001
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp) rs751946869 0.00001
NM_001009944.3(PKD1):c.3355C>A (p.Pro1119Thr) rs2092514047 0.00001
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly) rs751293870 0.00001
NM_001009944.3(PKD1):c.3499T>C (p.Ser1167Pro) rs769818833 0.00001
NM_001009944.3(PKD1):c.3697G>A (p.Ala1233Thr) rs752993263 0.00001
NM_001009944.3(PKD1):c.3761C>T (p.Ser1254Leu) rs763539652 0.00001
NM_001009944.3(PKD1):c.3767C>T (p.Pro1256Leu) rs149156000 0.00001
NM_001009944.3(PKD1):c.3884A>C (p.Glu1295Ala) rs746215131 0.00001
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser) rs1474271392 0.00001
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys) rs755462601 0.00001
NM_001009944.3(PKD1):c.4191G>T (p.Glu1397Asp) rs1356967038 0.00001
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter) rs1183899324 0.00001
NM_001009944.3(PKD1):c.4664C>T (p.Ala1555Val) rs758865304 0.00001
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met) rs2575314 0.00001
NM_001009944.3(PKD1):c.4723G>A (p.Gly1575Ser) rs751223759 0.00001
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro) rs541777274 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.5122G>A (p.Ala1708Thr) rs758961825 0.00001
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207 0.00001
NM_001009944.3(PKD1):c.5203A>T (p.Ser1735Cys) rs1064796417 0.00001
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala) rs760993331 0.00001
NM_001009944.3(PKD1):c.5284A>G (p.Thr1762Ala) rs369625462 0.00001
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201 0.00001
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001009944.3(PKD1):c.6178G>A (p.Ala2060Thr) rs371767717 0.00001
NM_001009944.3(PKD1):c.6356A>G (p.Asp2119Gly) rs755560531 0.00001
NM_001009944.3(PKD1):c.6377C>T (p.Ala2126Val) rs574142158 0.00001
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val) rs368987928 0.00001
NM_001009944.3(PKD1):c.6446C>T (p.Pro2149Leu) rs982097679 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr) rs749515571 0.00001
NM_001009944.3(PKD1):c.6771G>A (p.Val2257=) rs770172913 0.00001
NM_001009944.3(PKD1):c.6952C>T (p.Arg2318Cys) rs768275494 0.00001
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met) rs758620810 0.00001
NM_001009944.3(PKD1):c.709C>G (p.Pro237Ala) rs1350910449 0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191 0.00001
NM_001009944.3(PKD1):c.7517C>T (p.Ala2506Val) rs529669059 0.00001
NM_001009944.3(PKD1):c.7735G>A (p.Gly2579Ser) rs771135962 0.00001
NM_001009944.3(PKD1):c.7775C>T (p.Thr2592Ile) rs1458197743 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=) rs377029031 0.00001
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu) rs760592410 0.00001
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222 0.00001
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.8688C>T (p.Ser2896=) rs548736542 0.00001
NM_001009944.3(PKD1):c.8747C>T (p.Pro2916Leu) rs775980046 0.00001
NM_001009944.3(PKD1):c.8791+5G>A rs751652400 0.00001
NM_001009944.3(PKD1):c.8890C>T (p.Arg2964Cys) rs139631668 0.00001
NM_001009944.3(PKD1):c.9034A>G (p.Thr3012Ala) rs767541153 0.00001
NM_001009944.3(PKD1):c.9142C>T (p.Leu3048Phe) rs1253909708 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001009944.3(PKD1):c.9485G>A (p.Arg3162His) rs1189208643 0.00001
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp) rs1384099162 0.00001
NM_001009944.3(PKD1):c.9659C>T (p.Ser3220Leu) rs144246138 0.00001
NM_001009944.3(PKD1):c.9679G>A (p.Gly3227Arg) rs1459262773 0.00001
NM_001009944.3(PKD1):c.9688G>C (p.Val3230Leu) rs747054731 0.00001
NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys) rs757771138 0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333 0.00001
NM_001009944.3(PKD1):c.9873C>G (p.Phe3291Leu) rs767268955 0.00001
NM_001009944.3(PKD1):c.9885C>T (p.Asn3295=) rs764028566 0.00001
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn) rs773798664 0.00001
NM_001009944.3(PKD1):c.9994G>T (p.Val3332Phe) rs1272713748 0.00001
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
NM_001009944.3(PKD1):c.10032C>T (p.Phe3344=)
NM_001009944.3(PKD1):c.10034G>A (p.Arg3345Gln)
NM_001009944.3(PKD1):c.1004C>T (p.Ala335Val)
NM_001009944.3(PKD1):c.10051-10C>A rs3874642
NM_001009944.3(PKD1):c.10051-2A>G
NM_001009944.3(PKD1):c.10051-3C>G rs980155038
NM_001009944.3(PKD1):c.10054G>A (p.Ala3352Thr)
NM_001009944.3(PKD1):c.10057G>A (p.Gly3353Arg)
NM_001009944.3(PKD1):c.10076del (p.Pro3359fs)
NM_001009944.3(PKD1):c.10082G>A (p.Gly3361Glu)
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) rs1567166045
NM_001009944.3(PKD1):c.10085A>G (p.Gln3362Arg)
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs) rs1567165997
NM_001009944.3(PKD1):c.10098C>G (p.Asp3366Glu)
NM_001009944.3(PKD1):c.10123G>A (p.Val3375Met)
NM_001009944.3(PKD1):c.10128G>A (p.Leu3376=)
NM_001009944.3(PKD1):c.10136C>T (p.Ser3379Phe)
NM_001009944.3(PKD1):c.10149C>T (p.Phe3383=)
NM_001009944.3(PKD1):c.10168-12_10168-11del
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter) rs2151728536
NM_001009944.3(PKD1):c.10168_10170del
NM_001009944.3(PKD1):c.10183C>T (p.Gln3395Ter)
NM_001009944.3(PKD1):c.10220+1G>C
NM_001009944.3(PKD1):c.10220+4G>C
NM_001009944.3(PKD1):c.10221-3C>T
NM_001009944.3(PKD1):c.10233del (p.Trp3411fs) rs1596501760
NM_001009944.3(PKD1):c.10234C>A (p.Pro3412Thr)
NM_001009944.3(PKD1):c.10238C>T (p.Ser3413Phe)
NM_001009944.3(PKD1):c.10248A>T (p.Gly3416=)
NM_001009944.3(PKD1):c.10249A>G (p.Thr3417Ala)
NM_001009944.3(PKD1):c.10249delinsGTT (p.Thr3417fs)
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter) rs2151727019
NM_001009944.3(PKD1):c.10273A>G (p.Ser3425Gly)
NM_001009944.3(PKD1):c.10280_10289del (p.Pro3427fs)
NM_001009944.3(PKD1):c.1028C>T (p.Ser343Leu)
NM_001009944.3(PKD1):c.10290G>A (p.Val3430=) rs2544688515
NM_001009944.3(PKD1):c.10292del (p.Gly3431fs)
NM_001009944.3(PKD1):c.102del (p.Glu34fs)
NM_001009944.3(PKD1):c.10348G>A (p.Glu3450Lys)
NM_001009944.3(PKD1):c.10350G>C (p.Glu3450Asp)
NM_001009944.3(PKD1):c.10354G>T (p.Gly3452Cys)
NM_001009944.3(PKD1):c.10373C>T (p.Pro3458Leu)
NM_001009944.3(PKD1):c.10395C>T (p.Phe3465=)
NM_001009944.3(PKD1):c.10397C>G (p.Ser3466Ter) rs147464577
NM_001009944.3(PKD1):c.103_104delinsA (p.Pro35fs)
NM_001009944.3(PKD1):c.10405+9G>A
NM_001009944.3(PKD1):c.10405G>A (p.Asp3469Asn)
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile) rs776616291
NM_001009944.3(PKD1):c.10433C>T (p.Ala3478Val) rs2544685787
NM_001009944.3(PKD1):c.10441G>T (p.Val3481Phe)
NM_001009944.3(PKD1):c.10447A>G (p.Ser3483Gly)
NM_001009944.3(PKD1):c.10450C>G (p.Pro3484Ala)
NM_001009944.3(PKD1):c.10451C>G (p.Pro3484Arg)
NM_001009944.3(PKD1):c.10454C>T (p.Ala3485Val)
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs) rs2091883381
NM_001009944.3(PKD1):c.10472A>G (p.His3491Arg)
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg) rs752503970
NM_001009944.3(PKD1):c.1048G>A (p.Val350Met)
NM_001009944.3(PKD1):c.10510C>T (p.Pro3504Ser)
NM_001009944.3(PKD1):c.10511C>T (p.Pro3504Leu)
NM_001009944.3(PKD1):c.10513G>T (p.Gly3505Trp)
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) rs2151710519
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) rs1378307448
NM_001009944.3(PKD1):c.10550_10551insCCA (p.Gly3517_Glu3518insGln)
NM_001009944.3(PKD1):c.10552G>T (p.Glu3518Ter)
NM_001009944.3(PKD1):c.10552del (p.Glu3518fs)
NM_001009944.3(PKD1):c.10570C>T (p.Pro3524Ser)
NM_001009944.3(PKD1):c.10571C>T (p.Pro3524Leu)
NM_001009944.3(PKD1):c.10576C>G (p.Leu3526Val)
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=) rs745763060
NM_001009944.3(PKD1):c.1057G>T (p.Glu353Ter)
NM_001009944.3(PKD1):c.10598_10614del (p.Ala3533fs)
NM_001009944.3(PKD1):c.10622dup (p.Val3542fs)
NM_001009944.3(PKD1):c.10626G>A (p.Val3542=)
NM_001009944.3(PKD1):c.10636C>T (p.Arg3546Trp)
NM_001009944.3(PKD1):c.10642C>T (p.Arg3548Cys)
NM_001009944.3(PKD1):c.10652_10662del (p.Pro3551fs)
NM_001009944.3(PKD1):c.10653_10665dup (p.Ser3556fs)
NM_001009944.3(PKD1):c.10657T>C (p.Trp3553Arg)
NM_001009944.3(PKD1):c.10659G>C (p.Trp3553Cys)
NM_001009944.3(PKD1):c.10669del (p.Leu3557fs)
NM_001009944.3(PKD1):c.1067C>T (p.Pro356Leu)
NM_001009944.3(PKD1):c.10680del (p.Leu3561fs)
NM_001009944.3(PKD1):c.10691_10692del (p.Leu3564fs)
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.1069_1072delinsACCA (p.Ala357_Ala358delinsThrThr)
NM_001009944.3(PKD1):c.10708G>A (p.Val3570Met)
NM_001009944.3(PKD1):c.10709_10710del (p.Val3570fs)
NM_001009944.3(PKD1):c.10712C>G (p.Ala3571Gly)
NM_001009944.3(PKD1):c.10723dup (p.Trp3575fs)
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter) rs1361283193
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter) rs1177764199
NM_001009944.3(PKD1):c.10739_10740dup (p.Pro3581fs)
NM_001009944.3(PKD1):c.1073C>T (p.Ala358Val)
NM_001009944.3(PKD1):c.10742C>T (p.Pro3581Leu)
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.10747G>A (p.Gly3583Ser)
NM_001009944.3(PKD1):c.10751dup (p.Ser3585fs)
NM_001009944.3(PKD1):c.10759dup (p.Ala3587fs)
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe) rs2091723749
NM_001009944.3(PKD1):c.10776C>G (p.Ser3592Arg)
NM_001009944.3(PKD1):c.10778G>C (p.Ser3593Thr)
NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu) rs2544650057
NM_001009944.3(PKD1):c.10804G>C (p.Gly3602Arg)
NM_001009944.3(PKD1):c.10814C>T (p.Pro3605Leu)
NM_001009944.3(PKD1):c.10834G>A (p.Ala3612Thr)
NM_001009944.3(PKD1):c.10842C>A (p.Tyr3614Ter)
NM_001009944.3(PKD1):c.10849C>G (p.Leu3617Val)
NM_001009944.3(PKD1):c.10871C>T (p.Pro3624Leu) rs764059379
NM_001009944.3(PKD1):c.10880A>G (p.Asp3627Gly)
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.108dup (p.Cys37fs)
NM_001009944.3(PKD1):c.1091dup (p.Ser365fs)
NM_001009944.3(PKD1):c.10921G>A (p.Ala3641Thr)
NM_001009944.3(PKD1):c.10934G>A (p.Arg3645His)
NM_001009944.3(PKD1):c.10948C>A (p.His3650Asn)
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val) rs2544646868
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs) rs2544646762
NM_001009944.3(PKD1):c.10974G>T (p.Lys3658Asn)
NM_001009944.3(PKD1):c.1097C>T (p.Ser366Leu)
NM_001009944.3(PKD1):c.10984C>T (p.Arg3662Cys)
NM_001009944.3(PKD1):c.10993_10994del (p.Lys3665fs)
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11002C>T (p.His3668Tyr)
NM_001009944.3(PKD1):c.11004T>A (p.His3668Gln)
NM_001009944.3(PKD1):c.11005G>C (p.Gly3669Arg)
NM_001009944.3(PKD1):c.11007C>T (p.Gly3669=) rs2544646197
NM_001009944.3(PKD1):c.11016+1G>C
NM_001009944.3(PKD1):c.11016+7C>G
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11017-12C>G
NM_001009944.3(PKD1):c.11017-1G>C
NM_001009944.3(PKD1):c.11032A>G (p.Met3678Val)
NM_001009944.3(PKD1):c.11035C>G (p.Leu3679Val)
NM_001009944.3(PKD1):c.1105_1106del (p.Gln368_Ser369insTer) rs2544877719
NM_001009944.3(PKD1):c.11071_11088dup (p.Gly3696_His3697insAspAlaSerCysHisGly)
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs) rs2091670117
NM_001009944.3(PKD1):c.11082C>G (p.Cys3694Trp)
NM_001009944.3(PKD1):c.11088del (p.His3697fs)
NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys) rs758831274
NM_001009944.3(PKD1):c.11099G>T (p.Arg3700Leu)
NM_001009944.3(PKD1):c.1111G>T (p.Glu371Ter)
NM_001009944.3(PKD1):c.11122_11156+1del
NM_001009944.3(PKD1):c.11123A>C (p.Glu3708Ala)
NM_001009944.3(PKD1):c.11144T>G (p.Leu3715Arg)
NM_001009944.3(PKD1):c.11156+1G>T rs1596485727
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala) rs780574700
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
NM_001009944.3(PKD1):c.11188G>A (p.Val3730Met)
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs) rs1567155179
NM_001009944.3(PKD1):c.11201A>G (p.Tyr3734Cys)
NM_001009944.3(PKD1):c.11209_11210inv (p.Gly3737Pro)
NM_001009944.3(PKD1):c.11239C>T (p.Pro3747Ser)
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) rs546924823
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11269+3G>C
NM_001009944.3(PKD1):c.11269+6C>T
NM_001009944.3(PKD1):c.11270-1G>T
NM_001009944.3(PKD1):c.11270-6T>G
NM_001009944.3(PKD1):c.11275T>C (p.Tyr3759His)
NM_001009944.3(PKD1):c.11285C>T (p.Pro3762Leu)
NM_001009944.3(PKD1):c.11290G>A (p.Gly3764Ser)
NM_001009944.3(PKD1):c.11297G>A (p.Arg3766Lys)
NM_001009944.3(PKD1):c.11308_11312dup (p.Ala3773fs)
NM_001009944.3(PKD1):c.11316C>A (p.Ala3772=)
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.11317G>A (p.Ala3773Thr)
NM_001009944.3(PKD1):c.11338G>A (p.Asp3780Asn)
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del) rs2091618795
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup) rs2091618795
NM_001009944.3(PKD1):c.11342ACG[1] (p.Asp3782del)
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
NM_001009944.3(PKD1):c.11346del (p.Asp3782fs)
NM_001009944.3(PKD1):c.11347G>C (p.Val3783Leu) rs200120839
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val) rs142455071
NM_001009944.3(PKD1):c.11352_11355dup (p.Glu3786fs)
NM_001009944.3(PKD1):c.11361T>A (p.Ser3787Arg)
NM_001009944.3(PKD1):c.11366_11369del (p.His3789fs)
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11381C>G (p.Thr3794Arg)
NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs) rs2544624546
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys) rs138629093
NM_001009944.3(PKD1):c.11396C>A (p.Ala3799Glu)
NM_001009944.3(PKD1):c.1139G>A (p.Arg380His)
NM_001009944.3(PKD1):c.11410G>C (p.Gly3804Arg)
NM_001009944.3(PKD1):c.11411+1G>C rs2091612821
NM_001009944.3(PKD1):c.11411+1G>T
NM_001009944.3(PKD1):c.11411+2T>C
NM_001009944.3(PKD1):c.11412-1G>A
NM_001009944.3(PKD1):c.11412-7C>A
NM_001009944.3(PKD1):c.11412-7C>T rs553377243
NM_001009944.3(PKD1):c.11418G>C (p.Trp3806Cys)
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11426G>A (p.Gly3809Asp) rs2854584
NM_001009944.3(PKD1):c.11431T>C (p.Cys3811Arg)
NM_001009944.3(PKD1):c.11443del (p.Asp3815fs)
NM_001009944.3(PKD1):c.11450G>C (p.Gly3817Ala)
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs) rs1567153194
NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11458G>A (p.Val3820Met)
NM_001009944.3(PKD1):c.11485G>A (p.Glu3829Lys)
NM_001009944.3(PKD1):c.11491C>T (p.Arg3831Cys)
NM_001009944.3(PKD1):c.11492G>A (p.Arg3831His)
NM_001009944.3(PKD1):c.11502_11506del (p.Arg3835fs)
NM_001009944.3(PKD1):c.1150G>T (p.Gly384Cys)
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter) rs199476096
NM_001009944.3(PKD1):c.11522A>G (p.Asn3841Ser)
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) rs1596481464
NM_001009944.3(PKD1):c.11527C>T (p.Leu3843=)
NM_001009944.3(PKD1):c.11537+2T>A rs2151697557
NM_001009944.3(PKD1):c.11538-4G>T rs763279854
NM_001009944.3(PKD1):c.11538-5C>G
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) rs2151695909
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter) rs2091580237
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11564C>A (p.Thr3855Lys)
NM_001009944.3(PKD1):c.1156G>A (p.Glu386Lys)
NM_001009944.3(PKD1):c.11579_11582del (p.Ala3860fs)
NM_001009944.3(PKD1):c.11580_11581delinsT (p.Val3861fs)
NM_001009944.3(PKD1):c.11591dup (p.His3864fs)
NM_001009944.3(PKD1):c.11595_11605dup (p.Leu3869fs)
NM_001009944.3(PKD1):c.11599G>A (p.Val3867Ile)
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro) rs1555445569
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg) rs1555445569
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) rs2091577195
NM_001009944.3(PKD1):c.11617T>C (p.Phe3873Leu)
NM_001009944.3(PKD1):c.11642C>A (p.Ala3881Asp) rs2544614386
NM_001009944.3(PKD1):c.1165_1167delinsAT (p.Tyr389fs)
NM_001009944.3(PKD1):c.11683G>A (p.Ala3895Thr)
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) rs1251469390
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs) rs2151695024
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11699C>T (p.Pro3900Leu)
NM_001009944.3(PKD1):c.1169G>A (p.Ser390Asn)
NM_001009944.3(PKD1):c.116G>A (p.Cys39Tyr) rs2151858290
NM_001009944.3(PKD1):c.11708C>G (p.Thr3903Ser)
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp) rs2091571469
NM_001009944.3(PKD1):c.11713-1G>T
NM_001009944.3(PKD1):c.11713-2A>T
NM_001009944.3(PKD1):c.11713-2_11718dup
NM_001009944.3(PKD1):c.11713-6C>G
NM_001009944.3(PKD1):c.11720T>G (p.Leu3907Arg)
NM_001009944.3(PKD1):c.11726_11733delinsGCAGCAGGCGAAGTGGCAGCA (p.Leu3909fs)
NM_001009944.3(PKD1):c.11728T>C (p.Phe3910Leu)
NM_001009944.3(PKD1):c.11729delinsGCA (p.Phe3910fs)
NM_001009944.3(PKD1):c.11741T>C (p.Phe3914Ser)
NM_001009944.3(PKD1):c.11745C>A (p.Ala3915=)
NM_001009944.3(PKD1):c.11749G>T (p.Ala3917Ser)
NM_001009944.3(PKD1):c.11751C>A (p.Ala3917=)
NM_001009944.3(PKD1):c.11752G>A (p.Glu3918Lys)
NM_001009944.3(PKD1):c.11765G>A (p.Trp3922Ter)
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11779C>T (p.Arg3927Cys)
NM_001009944.3(PKD1):c.11797del (p.Leu3933fs)
NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)
NM_001009944.3(PKD1):c.11803G>A (p.Ala3935Thr)
NM_001009944.3(PKD1):c.11837C>A (p.Ala3946Glu)
NM_001009944.3(PKD1):c.11837C>T (p.Ala3946Val)
NM_001009944.3(PKD1):c.11839G>C (p.Ala3947Pro)
NM_001009944.3(PKD1):c.1183_1195dup (p.Ala399fs)
NM_001009944.3(PKD1):c.11843C>G (p.Thr3948Arg) rs2544598854
NM_001009944.3(PKD1):c.11855G>A (p.Arg3952His)
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro) rs1424496188
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.11864A>G (p.Gln3955Arg)
NM_001009944.3(PKD1):c.11864_11865delinsC (p.Gln3955fs)
NM_001009944.3(PKD1):c.1186G>A (p.Glu396Lys)
NM_001009944.3(PKD1):c.11875G>A (p.Ala3959Thr)
NM_001009944.3(PKD1):c.11882G>T (p.Arg3961Leu)
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) rs1596476503
NM_001009944.3(PKD1):c.11888G>A (p.Trp3963Ter)
NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)
NM_001009944.3(PKD1):c.11906G>C (p.Gly3969Ala)
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11917C>A (p.Arg3973Ser)
NM_001009944.3(PKD1):c.11926A>G (p.Ser3976Gly)
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.11948T>C (p.Leu3983Pro)
NM_001009944.3(PKD1):c.11962dup (p.Arg3988fs)
NM_001009944.3(PKD1):c.11966G>C (p.Gly3989Ala)
NM_001009944.3(PKD1):c.11987_11988insA (p.Phe3996fs)
NM_001009944.3(PKD1):c.1199G>A (p.Arg400Gln)
NM_001009944.3(PKD1):c.1199G>T (p.Arg400Leu)
NM_001009944.3(PKD1):c.12003+1G>C
NM_001009944.3(PKD1):c.12003+1G>T
NM_001009944.3(PKD1):c.12004-2A>C rs2091475604
NM_001009944.3(PKD1):c.12004-2A>G rs2091475604
NM_001009944.3(PKD1):c.12004-3C>T
NM_001009944.3(PKD1):c.12008C>T (p.Ala4003Val)
NM_001009944.3(PKD1):c.1201+5G>A
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.1202-10C>G
NM_001009944.3(PKD1):c.1202-11C>G
NM_001009944.3(PKD1):c.1202-1G>A rs2151822688
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12022T>C (p.Phe4008Leu)
NM_001009944.3(PKD1):c.12025G>C (p.Val4009Leu)
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter) rs1218054241
NM_001009944.3(PKD1):c.1203G>A (p.Ala401=)
NM_001009944.3(PKD1):c.12053C>T (p.Thr4018Ile)
NM_001009944.3(PKD1):c.12078_12080del (p.Leu4027del)
NM_001009944.3(PKD1):c.12095G>T (p.Gly4032Val) rs142768096
NM_001009944.3(PKD1):c.12105G>A (p.Val4035=)
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg) rs767579073
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12136C>G (p.Leu4046Val)
NM_001009944.3(PKD1):c.12139-1G>A
NM_001009944.3(PKD1):c.12148del (p.Ser4050fs)
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe) rs186160250
NM_001009944.3(PKD1):c.12155T>A (p.Val4052Glu)
NM_001009944.3(PKD1):c.12162_12165del (p.Leu4055fs)
NM_001009944.3(PKD1):c.12181del (p.Ala4061fs)
NM_001009944.3(PKD1):c.121C>T (p.Pro41Ser)
NM_001009944.3(PKD1):c.12206C>T (p.Thr4069Ile) rs1335991596
NM_001009944.3(PKD1):c.12218C>G (p.Thr4073Ser)
NM_001009944.3(PKD1):c.12220_12221del (p.Leu4074fs)
NM_001009944.3(PKD1):c.12221dup (p.Cys4075fs)
NM_001009944.3(PKD1):c.12229G>T (p.Ala4077Ser)
NM_001009944.3(PKD1):c.12246_12247del (p.Ser4083fs)
NM_001009944.3(PKD1):c.12262G>T (p.Val4088Leu)
NM_001009944.3(PKD1):c.12298C>T (p.Arg4100Trp)
NM_001009944.3(PKD1):c.12308C>T (p.Ala4103Val) rs746646395
NM_001009944.3(PKD1):c.1230G>A (p.Thr410=)
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) rs1060499718
NM_001009944.3(PKD1):c.12313A>G (p.Ile4105Val)
NM_001009944.3(PKD1):c.12319C>T (p.Arg4107Cys)
NM_001009944.3(PKD1):c.12323G>A (p.Trp4108Ter) rs2544586222
NM_001009944.3(PKD1):c.12329A>T (p.Tyr4110Phe)
NM_001009944.3(PKD1):c.12332A>G (p.His4111Arg)
NM_001009944.3(PKD1):c.12332_12336del (p.His4111fs)
NM_001009944.3(PKD1):c.12357del (p.Pro4120fs)
NM_001009944.3(PKD1):c.12359C>T (p.Pro4120Leu)
NM_001009944.3(PKD1):c.12369G>A (p.Glu4123=)
NM_001009944.3(PKD1):c.12370C>A (p.Pro4124Thr)
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter) rs756212622
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs) rs2151680679
NM_001009944.3(PKD1):c.12386T>G (p.Met4129Arg) rs2091436717
NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del) rs2544585102
NM_001009944.3(PKD1):c.12387G>C (p.Met4129Ile)
NM_001009944.3(PKD1):c.12389T>C (p.Val4130Ala)
NM_001009944.3(PKD1):c.12391_12392delinsTT (p.Glu4131Leu)
NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)
NM_001009944.3(PKD1):c.12410T>C (p.Leu4137Pro)
NM_001009944.3(PKD1):c.12431G>C (p.Ser4144Thr)
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12463T>C (p.Phe4155Leu)
NM_001009944.3(PKD1):c.12475G>T (p.Glu4159Ter)
NM_001009944.3(PKD1):c.12478C>T (p.Pro4160Ser)
NM_001009944.3(PKD1):c.12479C>G (p.Pro4160Arg)
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.1249G>A (p.Gly417Arg)
NM_001009944.3(PKD1):c.12501G>A (p.Arg4167=)
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12525G>C (p.Val4175=)
NM_001009944.3(PKD1):c.12531del (p.Ser4179fs)
NM_001009944.3(PKD1):c.1253A>C (p.His418Pro)
NM_001009944.3(PKD1):c.1254dup (p.Cys419fs)
NM_001009944.3(PKD1):c.12554C>T (p.Ser4185Leu)
NM_001009944.3(PKD1):c.12557A>C (p.His4186Pro)
NM_001009944.3(PKD1):c.12557A>G (p.His4186Arg)
NM_001009944.3(PKD1):c.12565_12568delinsTCCA (p.Thr4189_Ser4190delinsSerThr)
NM_001009944.3(PKD1):c.12566C>T (p.Thr4189Ile)
NM_001009944.3(PKD1):c.12568T>A (p.Ser4190Thr)
NM_001009944.3(PKD1):c.12574A>C (p.Ser4192Arg)
NM_001009944.3(PKD1):c.12581dup (p.Asp4195fs)
NM_001009944.3(PKD1):c.12586_12589del (p.Asp4195_Gly4196insTer)
NM_001009944.3(PKD1):c.1258T>C (p.Tyr420His)
NM_001009944.3(PKD1):c.12590T>C (p.Leu4197Pro)
NM_001009944.3(PKD1):c.12602T>C (p.Leu4201Pro)
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs) rs2544578227
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12624_12625dup (p.Glu4209fs)
NM_001009944.3(PKD1):c.12628C>T (p.Pro4210Ser)
NM_001009944.3(PKD1):c.12632A>G (p.Glu4211Gly)
NM_001009944.3(PKD1):c.12641G>A (p.Arg4214His)
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
NM_001009944.3(PKD1):c.12646C>T (p.Gln4216Ter)
NM_001009944.3(PKD1):c.12656dup (p.Glu4220fs)
NM_001009944.3(PKD1):c.12657_12658delinsAT (p.Phe4219_Glu4220delinsLeuTer)
NM_001009944.3(PKD1):c.12658G>A (p.Glu4220Lys)
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12703G>A (p.Asp4235Asn)
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.12739C>T (p.Gln4247Ter) rs2091390332
NM_001009944.3(PKD1):c.12779G>A (p.Arg4260His)
NM_001009944.3(PKD1):c.12779G>C (p.Arg4260Pro)
NM_001009944.3(PKD1):c.1277dup (p.Ala427fs)
NM_001009944.3(PKD1):c.12784C>T (p.Pro4262Ser)
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12830C>A (p.Ala4277Asp)
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=) rs375443308
NM_001009944.3(PKD1):c.12845A>C (p.Asp4282Ala)
NM_001009944.3(PKD1):c.12850G>A (p.Ala4284Thr)
NM_001009944.3(PKD1):c.12851C>T (p.Ala4284Val)
NM_001009944.3(PKD1):c.12867_12905dup (p.Ser4301_Ser4302insArgThrProLeuArgAlaLysAsnLysValHisProSer)
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys) rs777990224
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr) rs2092660647
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1313C>T (p.Ala438Val)
NM_001009944.3(PKD1):c.1326del (p.Ala443fs) rs2151822381
NM_001009944.3(PKD1):c.1334C>T (p.Ala445Val)
NM_001009944.3(PKD1):c.1355_1361del (p.Val452fs)
NM_001009944.3(PKD1):c.1357C>T (p.Gln453Ter)
NM_001009944.3(PKD1):c.1375C>A (p.Arg459=)
NM_001009944.3(PKD1):c.1386-11C>T
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1396G>C (p.Val466Leu)
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.1412C>T (p.Ser471Leu)
NM_001009944.3(PKD1):c.1416T>A (p.Thr472=)
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1430A>T (p.Glu477Val)
NM_001009944.3(PKD1):c.1437C>T (p.Gly479=)
NM_001009944.3(PKD1):c.1439C>T (p.Pro480Leu)
NM_001009944.3(PKD1):c.1441G>T (p.Ala481Ser)
NM_001009944.3(PKD1):c.1451G>A (p.Gly484Asp)
NM_001009944.3(PKD1):c.146T>A (p.Val49Asp)
NM_001009944.3(PKD1):c.1488delinsTC (p.Gly498fs)
NM_001009944.3(PKD1):c.149A>G (p.Asn50Ser)
NM_001009944.3(PKD1):c.1505del (p.Pro502fs)
NM_001009944.3(PKD1):c.1516G>A (p.Glu506Lys)
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1524C>A (p.Cys508Ter)
NM_001009944.3(PKD1):c.1525G>A (p.Val509Ile)
NM_001009944.3(PKD1):c.1529G>A (p.Arg510Gln)
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro) rs1293305047
NM_001009944.3(PKD1):c.1532T>G (p.Leu511Arg)
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs) rs2151820655
NM_001009944.3(PKD1):c.1547G>A (p.Trp516Ter)
NM_001009944.3(PKD1):c.1561C>G (p.Leu521Val)
NM_001009944.3(PKD1):c.1564_1565del (p.Cys522fs)
NM_001009944.3(PKD1):c.1567T>C (p.Ser523Pro)
NM_001009944.3(PKD1):c.1568C>G (p.Ser523Ter)
NM_001009944.3(PKD1):c.1568C>T (p.Ser523Leu)
NM_001009944.3(PKD1):c.1574C>G (p.Pro525Arg)
NM_001009944.3(PKD1):c.1580G>C (p.Ser527Thr)
NM_001009944.3(PKD1):c.1582T>G (p.Tyr528Asp)
NM_001009944.3(PKD1):c.1585G>A (p.Val529Ile)
NM_001009944.3(PKD1):c.1595_1598dup (p.Gln533fs)
NM_001009944.3(PKD1):c.1606+1G>A rs2151820539
NM_001009944.3(PKD1):c.1606+6C>T
NM_001009944.3(PKD1):c.160C>G (p.Arg54Gly)
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs) rs3072277
NM_001009944.3(PKD1):c.1616A>G (p.Gln539Arg)
NM_001009944.3(PKD1):c.1616A>T (p.Gln539Leu)
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1640del (p.Gly547fs)
NM_001009944.3(PKD1):c.1654G>A (p.Asp552Asn)
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1676C>G (p.Pro559Arg)
NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg) rs1185676416
NM_001009944.3(PKD1):c.1687C>G (p.Gln563Glu)
NM_001009944.3(PKD1):c.1699_1700del (p.Ala568fs) rs2544869651
NM_001009944.3(PKD1):c.1706C>T (p.Pro569Leu)
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.1723-4C>G
NM_001009944.3(PKD1):c.1732T>A (p.Phe578Ile)
NM_001009944.3(PKD1):c.1736C>G (p.Pro579Arg)
NM_001009944.3(PKD1):c.1736C>T (p.Pro579Leu)
NM_001009944.3(PKD1):c.173_193dup (p.Arg64_Ile65insThrLeuGlyProAlaLeuArg)
NM_001009944.3(PKD1):c.1756G>C (p.Glu586Gln)
NM_001009944.3(PKD1):c.1772C>T (p.Thr591Met)
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser) rs1596582702
NM_001009944.3(PKD1):c.1789C>T (p.Gln597Ter)
NM_001009944.3(PKD1):c.1792G>C (p.Glu598Gln)
NM_001009944.3(PKD1):c.17C>G (p.Pro6Arg)
NM_001009944.3(PKD1):c.1802G>A (p.Arg601Gln)
NM_001009944.3(PKD1):c.1802G>C (p.Arg601Pro)
NM_001009944.3(PKD1):c.1807G>A (p.Ala603Thr)
NM_001009944.3(PKD1):c.1807G>C (p.Ala603Pro)
NM_001009944.3(PKD1):c.1817G>C (p.Arg606Pro) rs2092629034
NM_001009944.3(PKD1):c.1832G>A (p.Arg611Gln)
NM_001009944.3(PKD1):c.1849+19G>A
NM_001009944.3(PKD1):c.1849+1G>T rs2092628618
NM_001009944.3(PKD1):c.1850-12C>G
NM_001009944.3(PKD1):c.1856C>T (p.Pro619Leu)
NM_001009944.3(PKD1):c.1870G>A (p.Glu624Lys)
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp) rs763213387
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter) rs1348307652
NM_001009944.3(PKD1):c.1910C>T (p.Ala637Val) rs1324355778
NM_001009944.3(PKD1):c.1916C>T (p.Ala639Val)
NM_001009944.3(PKD1):c.1919G>A (p.Cys640Tyr)
NM_001009944.3(PKD1):c.1924C>A (p.Pro642Thr)
NM_001009944.3(PKD1):c.1930G>T (p.Gly644Ter)
NM_001009944.3(PKD1):c.1938G>A (p.Trp646Ter)
NM_001009944.3(PKD1):c.1945G>A (p.Gly649Arg)
NM_001009944.3(PKD1):c.1969G>A (p.Asp657Asn)
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter) rs2544860881
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val) rs781018494
NM_001009944.3(PKD1):c.1A>C (p.Met1Leu)
NM_001009944.3(PKD1):c.1A>T (p.Met1Leu)
NM_001009944.3(PKD1):c.2033C>T (p.Ala678Val)
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs) rs1448641464
NM_001009944.3(PKD1):c.2042C>T (p.Ala681Val)
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs) rs2151816205
NM_001009944.3(PKD1):c.2079G>C (p.Gly693=)
NM_001009944.3(PKD1):c.2079del (p.Ala696fs) rs1057518923
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001009944.3(PKD1):c.2081_2085dup (p.Ala696fs)
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2097+1G>A rs2151816064
NM_001009944.3(PKD1):c.2099T>A (p.Val700Asp)
NM_001009944.3(PKD1):c.2100C>G (p.Val700=)
NM_001009944.3(PKD1):c.2104C>T (p.Leu702Phe)
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln) rs527655141
NM_001009944.3(PKD1):c.2122C>A (p.Leu708Ile)
NM_001009944.3(PKD1):c.2126T>C (p.Met709Thr)
NM_001009944.3(PKD1):c.2128C>T (p.Leu710Phe)
NM_001009944.3(PKD1):c.2143G>A (p.Val715Ile)
NM_001009944.3(PKD1):c.2143G>T (p.Val715Phe) rs1264766449
NM_001009944.3(PKD1):c.215+2_215+3del rs2092939625
NM_001009944.3(PKD1):c.215+5G>A
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.216-3C>T
NM_001009944.3(PKD1):c.2169_2170delinsA (p.Gly724fs)
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln) rs1616940
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.2195C>T (p.Ala732Val)
NM_001009944.3(PKD1):c.2212C>A (p.Pro738Thr)
NM_001009944.3(PKD1):c.2226C>G (p.Tyr742Ter)
NM_001009944.3(PKD1):c.2227C>G (p.Leu743Val)
NM_001009944.3(PKD1):c.2237A>G (p.Asn746Ser)
NM_001009944.3(PKD1):c.2246C>G (p.Ser749Ter)
NM_001009944.3(PKD1):c.224C>T (p.Ser75Phe)
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter) rs775710328
NM_001009944.3(PKD1):c.2282C>A (p.Thr761Asn)
NM_001009944.3(PKD1):c.2287G>A (p.Ala763Thr)
NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs) rs2092600667
NM_001009944.3(PKD1):c.2294C>T (p.Pro765Leu)
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs) rs2092600549
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser) rs2092686792
NM_001009944.3(PKD1):c.2315T>C (p.Leu772Pro)
NM_001009944.3(PKD1):c.2320G>A (p.Ala774Thr)
NM_001009944.3(PKD1):c.2335A>G (p.Thr779Ala)
NM_001009944.3(PKD1):c.2338G>A (p.Val780Met) rs780727251
NM_001009944.3(PKD1):c.2362C>A (p.Pro788Thr)
NM_001009944.3(PKD1):c.2371C>T (p.Arg791Trp)
NM_001009944.3(PKD1):c.2405T>A (p.Val802Glu)
NM_001009944.3(PKD1):c.2415C>T (p.Gly805=)
NM_001009944.3(PKD1):c.2425C>T (p.His809Tyr)
NM_001009944.3(PKD1):c.2427_2428del (p.His809fs)
NM_001009944.3(PKD1):c.2474G>A (p.Arg825Gln)
NM_001009944.3(PKD1):c.2489C>A (p.Ala830Asp)
NM_001009944.3(PKD1):c.2492C>A (p.Pro831His) rs2544853623
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2503C>T (p.Arg835Cys)
NM_001009944.3(PKD1):c.250G>A (p.Val84Ile) rs914018183
NM_001009944.3(PKD1):c.2524_2525dup (p.Ser843fs)
NM_001009944.3(PKD1):c.2530G>C (p.Ala844Pro) rs1162533695
NM_001009944.3(PKD1):c.2536G>A (p.Val846Met)
NM_001009944.3(PKD1):c.2543A>C (p.Gln848Pro)
NM_001009944.3(PKD1):c.2553_2554del (p.Gly852fs)
NM_001009944.3(PKD1):c.2555G>A (p.Gly852Asp)
NM_001009944.3(PKD1):c.2561A>G (p.Asn854Ser)
NM_001009944.3(PKD1):c.2563G>A (p.Ala855Thr)
NM_001009944.3(PKD1):c.2602G>T (p.Ala868Ser)
NM_001009944.3(PKD1):c.2605C>T (p.Arg869Cys)
NM_001009944.3(PKD1):c.2609_2610dup (p.Glu871fs)
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs) rs1596575646
NM_001009944.3(PKD1):c.2618_2622dup (p.Pro875fs)
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.2629C>G (p.Leu877Val)
NM_001009944.3(PKD1):c.2654G>A (p.Cys885Tyr)
NM_001009944.3(PKD1):c.2659del (p.Trp887fs) rs2092593850
NM_001009944.3(PKD1):c.2663del (p.Glu888fs)
NM_001009944.3(PKD1):c.2675C>T (p.Thr892Ile)
NM_001009944.3(PKD1):c.268del (p.Leu90fs)
NM_001009944.3(PKD1):c.2703G>A (p.Trp901Ter)
NM_001009944.3(PKD1):c.2709_2712del (p.Ser903fs)
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter) rs2151812964
NM_001009944.3(PKD1):c.2725G>C (p.Val909Leu)
NM_001009944.3(PKD1):c.2729_2730del (p.Asp910fs)
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter) rs1339097856
NM_001009944.3(PKD1):c.2730_2741del (p.Asp910_Val913del)
NM_001009944.3(PKD1):c.2781G>A (p.Thr927=)
NM_001009944.3(PKD1):c.2781_2782insAG (p.Ala928fs) rs1596574987
NM_001009944.3(PKD1):c.2783C>T (p.Ala928Val)
NM_001009944.3(PKD1):c.2790G>T (p.Glu930Asp)
NM_001009944.3(PKD1):c.2830C>T (p.Arg944Cys)
NM_001009944.3(PKD1):c.2831G>A (p.Arg944His)
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp) rs1305213807
NM_001009944.3(PKD1):c.287T>A (p.Leu96Gln)
NM_001009944.3(PKD1):c.288-1G>C
NM_001009944.3(PKD1):c.288-2A>G rs2092684358
NM_001009944.3(PKD1):c.2882C>G (p.Ser961Trp)
NM_001009944.3(PKD1):c.2884G>C (p.Asp962His)
NM_001009944.3(PKD1):c.2897G>A (p.Arg966Gln)
NM_001009944.3(PKD1):c.2927C>G (p.Thr976Ser)
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.2941G>T (p.Val981Phe)
NM_001009944.3(PKD1):c.295A>C (p.Ser99Arg)
NM_001009944.3(PKD1):c.2960_2973del (p.Gln987fs)
NM_001009944.3(PKD1):c.2966C>T (p.Ala989Val)
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=) rs1324429294
NM_001009944.3(PKD1):c.2968dup (p.Ala990fs)
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del) rs2544885084
NM_001009944.3(PKD1):c.2983T>A (p.Ser995Thr)
NM_001009944.3(PKD1):c.2984C>G (p.Ser995Ter)
NM_001009944.3(PKD1):c.2986-2A>G
NM_001009944.3(PKD1):c.2990C>T (p.Thr997Met)
NM_001009944.3(PKD1):c.2996C>G (p.Ser999Cys)
NM_001009944.3(PKD1):c.2996C>T (p.Ser999Phe)
NM_001009944.3(PKD1):c.3006G>A (p.Val1002=)
NM_001009944.3(PKD1):c.3019G>T (p.Val1007Leu)
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter) rs753261451
NM_001009944.3(PKD1):c.305_307del (p.Lys102del) rs1567219527
NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter) rs2092555939
NM_001009944.3(PKD1):c.3068A>T (p.Gln1023Leu)
NM_001009944.3(PKD1):c.3070G>A (p.Val1024Ile)
NM_001009944.3(PKD1):c.3083C>G (p.Pro1028Arg)
NM_001009944.3(PKD1):c.3100A>T (p.Asn1034Tyr)
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3104C>T (p.Ala1035Val)
NM_001009944.3(PKD1):c.3105_3109del (p.Thr1036fs)
NM_001009944.3(PKD1):c.3106A>G (p.Thr1036Ala)
NM_001009944.3(PKD1):c.3106dup (p.Thr1036fs)
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.3124G>A (p.Gly1042Ser)
NM_001009944.3(PKD1):c.3126C>T (p.Gly1042=)
NM_001009944.3(PKD1):c.3141G>A (p.Ser1047=)
NM_001009944.3(PKD1):c.3145G>T (p.Val1049Leu)
NM_001009944.3(PKD1):c.3148G>T (p.Glu1050Ter)
NM_001009944.3(PKD1):c.3161+1G>T
NM_001009944.3(PKD1):c.3162-1G>C rs2544837759
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter) rs1596566550
NM_001009944.3(PKD1):c.3168del (p.Phe1057fs)
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3171_3172del (p.Phe1057fs) rs2151804597
NM_001009944.3(PKD1):c.3185A>G (p.Gln1062Arg)
NM_001009944.3(PKD1):c.3196C>T (p.Gln1066Ter)
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser) rs2092538545
NM_001009944.3(PKD1):c.3213C>G (p.Tyr1071Ter)
NM_001009944.3(PKD1):c.3229G>A (p.Val1077Ile)
NM_001009944.3(PKD1):c.3239C>T (p.Pro1080Leu) rs746334905
NM_001009944.3(PKD1):c.3244G>A (p.Val1082Met)
NM_001009944.3(PKD1):c.3250C>T (p.Gln1084Ter) rs1373028227
NM_001009944.3(PKD1):c.3267del (p.His1089fs)
NM_001009944.3(PKD1):c.3277C>G (p.His1093Asp) rs146352591
NM_001009944.3(PKD1):c.3282del (p.Tyr1095fs)
NM_001009944.3(PKD1):c.3284A>G (p.Tyr1095Cys)
NM_001009944.3(PKD1):c.3295+1G>A
NM_001009944.3(PKD1):c.3296-2A>G
NM_001009944.3(PKD1):c.3296-4_3304del rs2544832042
NM_001009944.3(PKD1):c.330A>G (p.Ile110Met)
NM_001009944.3(PKD1):c.3311C>T (p.Thr1104Ile)
NM_001009944.3(PKD1):c.3313G>A (p.Val1105Met)
NM_001009944.3(PKD1):c.3317T>C (p.Leu1106Pro)
NM_001009944.3(PKD1):c.3338A>G (p.Asn1113Ser)
NM_001009944.3(PKD1):c.3341T>G (p.Leu1114Arg)
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter) rs755084885
NM_001009944.3(PKD1):c.3384C>A (p.Ser1128=)
NM_001009944.3(PKD1):c.3405C>G (p.Asp1135Glu)
NM_001009944.3(PKD1):c.3409G>C (p.Val1137Leu)
NM_001009944.3(PKD1):c.3420del (p.Gly1141fs)
NM_001009944.3(PKD1):c.3425_3428dup (p.Val1144fs) rs2544830957
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3442C>G (p.Pro1148Ala)
NM_001009944.3(PKD1):c.3446A>T (p.His1149Leu)
NM_001009944.3(PKD1):c.3466_3467dup (p.Leu1158fs)
NM_001009944.3(PKD1):c.3467G>C (p.Gly1156Ala) rs758919377
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=) rs151026121
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys) rs1483748105
NM_001009944.3(PKD1):c.3487T>G (p.Phe1163Val)
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.352A>G (p.Ser118Gly)
NM_001009944.3(PKD1):c.3535C>A (p.His1179Asn)
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.3551G>A (p.Arg1184Lys)
NM_001009944.3(PKD1):c.3554G>T (p.Gly1185Val)
NM_001009944.3(PKD1):c.3556A>T (p.Thr1186Ser)
NM_001009944.3(PKD1):c.355G>A (p.Glu119Lys)
NM_001009944.3(PKD1):c.3560A>C (p.Tyr1187Ser) rs2544829830
NM_001009944.3(PKD1):c.3569G>A (p.Arg1190His) rs140152387
NM_001009944.3(PKD1):c.3570C>T (p.Arg1190=)
NM_001009944.3(PKD1):c.3587C>T (p.Thr1196Met)
NM_001009944.3(PKD1):c.359+2T>G rs2092683440
NM_001009944.3(PKD1):c.359+5G>A rs2092683412
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs) rs778028967
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter) rs2092506242
NM_001009944.3(PKD1):c.3611C>A (p.Ala1204Glu)
NM_001009944.3(PKD1):c.3611del (p.Ala1204fs)
NM_001009944.3(PKD1):c.3613G>C (p.Asp1205His)
NM_001009944.3(PKD1):c.3619C>T (p.Arg1207Cys)
NM_001009944.3(PKD1):c.3652dup (p.Asp1218fs)
NM_001009944.3(PKD1):c.3655A>C (p.Met1219Leu)
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val) rs139100448
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met) rs749092859
NM_001009944.3(PKD1):c.3668T>C (p.Val1223Ala)
NM_001009944.3(PKD1):c.3680C>T (p.Ala1227Val)
NM_001009944.3(PKD1):c.3698C>G (p.Ala1233Gly)
NM_001009944.3(PKD1):c.3700G>A (p.Ala1234Thr)
NM_001009944.3(PKD1):c.3704T>C (p.Val1235Ala)
NM_001009944.3(PKD1):c.3715G>A (p.Asp1239Asn)
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly) rs2151800134
NM_001009944.3(PKD1):c.3741G>C (p.Met1247Ile)
NM_001009944.3(PKD1):c.3743G>A (p.Gly1248Glu)
NM_001009944.3(PKD1):c.3745G>A (p.Asp1249Asn) rs2544828142
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala) rs2092501507
NM_001009944.3(PKD1):c.3748G>A (p.Gly1250Ser)
NM_001009944.3(PKD1):c.3754G>A (p.Val1252Met)
NM_001009944.3(PKD1):c.3755T>C (p.Val1252Ala)
NM_001009944.3(PKD1):c.3761C>A (p.Ser1254Ter)
NM_001009944.3(PKD1):c.3762G>A (p.Ser1254=)
NM_001009944.3(PKD1):c.3785A>C (p.His1262Pro)
NM_001009944.3(PKD1):c.3792C>T (p.Tyr1264=)
NM_001009944.3(PKD1):c.3797G>A (p.Arg1266Gln)
NM_001009944.3(PKD1):c.3803A>T (p.Gln1268Leu)
NM_001009944.3(PKD1):c.3809G>A (p.Cys1270Tyr)
NM_001009944.3(PKD1):c.3814G>C (p.Val1272Leu)
NM_001009944.3(PKD1):c.3823G>A (p.Gly1275Ser)
NM_001009944.3(PKD1):c.382dup (p.Glu128fs)
NM_001009944.3(PKD1):c.3830C>T (p.Ala1277Val)
NM_001009944.3(PKD1):c.3833G>T (p.Ser1278Ile)
NM_001009944.3(PKD1):c.385T>C (p.Cys129Arg)
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro) rs2544827223
NM_001009944.3(PKD1):c.3865dup (p.Val1289fs)
NM_001009944.3(PKD1):c.387T>G (p.Cys129Trp)
NM_001009944.3(PKD1):c.3890T>C (p.Leu1297Pro)
NM_001009944.3(PKD1):c.3893G>A (p.Arg1298His) rs536743722
NM_001009944.3(PKD1):c.3895G>A (p.Val1299Ile)
NM_001009944.3(PKD1):c.3895G>C (p.Val1299Leu)
NM_001009944.3(PKD1):c.3898G>C (p.Glu1300Gln)
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro) rs2092941758
NM_001009944.3(PKD1):c.3904G>A (p.Ala1302Thr) rs139993510
NM_001009944.3(PKD1):c.3926C>G (p.Pro1309Arg)
NM_001009944.3(PKD1):c.3930C>G (p.Asp1310Glu)
NM_001009944.3(PKD1):c.3930_3931insCA (p.Ala1311fs) rs2544826608
NM_001009944.3(PKD1):c.3941C>T (p.Thr1314Met)
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.3957_3994dup (p.Asp1332fs)
NM_001009944.3(PKD1):c.3971A>G (p.Tyr1324Cys) rs2544826149
NM_001009944.3(PKD1):c.3973C>T (p.Leu1325Phe)
NM_001009944.3(PKD1):c.3974T>C (p.Leu1325Pro)
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser) rs2092493397
NM_001009944.3(PKD1):c.3982T>C (p.Trp1328Arg)
NM_001009944.3(PKD1):c.3986C>T (p.Thr1329Ile)
NM_001009944.3(PKD1):c.4001C>T (p.Ser1334Phe)
NM_001009944.3(PKD1):c.4006A>C (p.Asn1336His)
NM_001009944.3(PKD1):c.4010C>T (p.Thr1337Met)
NM_001009944.3(PKD1):c.4021G>A (p.Gly1341Arg)
NM_001009944.3(PKD1):c.4039C>T (p.His1347Tyr)
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs) rs2092491511
NM_001009944.3(PKD1):c.4042_4044del (p.Asn1348del)
NM_001009944.3(PKD1):c.4043A>G (p.Asn1348Ser)
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys) rs2092679535
NM_001009944.3(PKD1):c.4063T>A (p.Phe1355Ile)
NM_001009944.3(PKD1):c.4064_4065dup (p.Pro1356fs)
NM_001009944.3(PKD1):c.4066C>T (p.Pro1356Ser)
NM_001009944.3(PKD1):c.4070T>C (p.Leu1357Pro) rs2151798827
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4077G>T (p.Leu1359=)
NM_001009944.3(PKD1):c.4085C>T (p.Ser1362Phe)
NM_001009944.3(PKD1):c.4093G>A (p.Val1365Met)
NM_001009944.3(PKD1):c.40GGCCTG[1] (p.14GL[1])
NM_001009944.3(PKD1):c.4105C>G (p.His1369Asp)
NM_001009944.3(PKD1):c.4115C>T (p.Thr1372Ile)
NM_001009944.3(PKD1):c.4126G>C (p.Val1376Leu)
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly) rs149210297
NM_001009944.3(PKD1):c.4154T>G (p.Leu1385Arg)
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter) rs2544883158
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu) rs2544883158
NM_001009944.3(PKD1):c.4171T>C (p.Phe1391Leu)
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val) rs1413875287
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln)
NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter) rs890465248
NM_001009944.3(PKD1):c.4198C>T (p.Leu1400=)
NM_001009944.3(PKD1):c.41G>A (p.Gly14Asp)
NM_001009944.3(PKD1):c.4205C>T (p.Ala1402Val)
NM_001009944.3(PKD1):c.4209T>G (p.Cys1403Trp)
NM_001009944.3(PKD1):c.4210G>A (p.Ala1404Thr)
NM_001009944.3(PKD1):c.4219C>T (p.Pro1407Ser)
NM_001009944.3(PKD1):c.4228T>G (p.Tyr1410Asp)
NM_001009944.3(PKD1):c.4234T>G (p.Tyr1412Asp)
NM_001009944.3(PKD1):c.424G>A (p.Glu142Lys)
NM_001009944.3(PKD1):c.4253C>G (p.Thr1418Ser)
NM_001009944.3(PKD1):c.4257G>C (p.Glu1419Asp)
NM_001009944.3(PKD1):c.4265C>A (p.Ala1422Asp)
NM_001009944.3(PKD1):c.4279A>G (p.Arg1427Gly)
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs) rs2544823369
NM_001009944.3(PKD1):c.427C>G (p.Gln143Glu)
NM_001009944.3(PKD1):c.4296_4298del (p.Phe1433del)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4333G>A (p.Val1445Ile)
NM_001009944.3(PKD1):c.4346A>G (p.Asn1449Ser)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4347C>G (p.Asn1449Lys)
NM_001009944.3(PKD1):c.4369_4370del (p.Ala1458fs) rs2092481936
NM_001009944.3(PKD1):c.4370C>G (p.Ser1457Ter)
NM_001009944.3(PKD1):c.437G>C (p.Arg146Pro)
NM_001009944.3(PKD1):c.4390G>T (p.Glu1464Ter)
NM_001009944.3(PKD1):c.4391A>T (p.Glu1464Val)
NM_001009944.3(PKD1):c.4396G>A (p.Val1466Met)
NM_001009944.3(PKD1):c.4397T>A (p.Val1466Glu)
NM_001009944.3(PKD1):c.4399C>A (p.Leu1467Met)
NM_001009944.3(PKD1):c.4418T>C (p.Val1473Ala)
NM_001009944.3(PKD1):c.4441C>A (p.Leu1481Met)
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4455C>G (p.Tyr1485Ter)
NM_001009944.3(PKD1):c.4459T>C (p.Phe1487Leu)
NM_001009944.3(PKD1):c.4460T>C (p.Phe1487Ser)
NM_001009944.3(PKD1):c.4460_4469del (p.Phe1487fs)
NM_001009944.3(PKD1):c.4462T>A (p.Ser1488Thr)
NM_001009944.3(PKD1):c.4462T>C (p.Ser1488Pro) rs773746552
NM_001009944.3(PKD1):c.4466C>T (p.Ala1489Val)
NM_001009944.3(PKD1):c.4493A>C (p.Tyr1498Ser)
NM_001009944.3(PKD1):c.4494C>G (p.Tyr1498Ter)
NM_001009944.3(PKD1):c.4506G>A (p.Leu1502=)
NM_001009944.3(PKD1):c.4520G>A (p.Trp1507Ter)
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.4531C>A (p.Pro1511Thr)
NM_001009944.3(PKD1):c.453G>C (p.Glu151Asp)
NM_001009944.3(PKD1):c.4550A>G (p.Tyr1517Cys)
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4551C>T (p.Tyr1517=)
NM_001009944.3(PKD1):c.4573G>A (p.Val1525Ile)
NM_001009944.3(PKD1):c.4582G>C (p.Ala1528Pro)
NM_001009944.3(PKD1):c.4585G>A (p.Gly1529Ser)
NM_001009944.3(PKD1):c.4585G>T (p.Gly1529Cys)
NM_001009944.3(PKD1):c.4586G>A (p.Gly1529Asp) rs2151797032
NM_001009944.3(PKD1):c.4597G>T (p.Val1533Leu)
NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter) rs1596558405
NM_001009944.3(PKD1):c.4628C>T (p.Thr1543Met)
NM_001009944.3(PKD1):c.4629G>A (p.Thr1543=)
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met) rs2544820023
NM_001009944.3(PKD1):c.4639C>T (p.Arg1547Cys)
NM_001009944.3(PKD1):c.4640G>A (p.Arg1547His)
NM_001009944.3(PKD1):c.464G>A (p.Cys155Tyr)
NM_001009944.3(PKD1):c.4651C>T (p.Leu1551Phe)
NM_001009944.3(PKD1):c.4654del (p.Val1552fs) rs2047525622
NM_001009944.3(PKD1):c.4665A>T (p.Ala1555=)
NM_001009944.3(PKD1):c.4667G>C (p.Ser1556Thr)
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=) rs114489044
NM_001009944.3(PKD1):c.4691G>T (p.Gly1564Val)
NM_001009944.3(PKD1):c.4696_4701del (p.Val1566_Ser1567del)
NM_001009944.3(PKD1):c.4709C>G (p.Thr1570Arg)
NM_001009944.3(PKD1):c.4712C>A (p.Ser1571Ter)
NM_001009944.3(PKD1):c.4712C>T (p.Ser1571Leu)
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs) rs2151796475
NM_001009944.3(PKD1):c.4746G>T (p.Trp1582Cys)
NM_001009944.3(PKD1):c.4749_4751delinsAGCGCTATTC (p.Leu1584fs)
NM_001009944.3(PKD1):c.4766C>T (p.Thr1589Met)
NM_001009944.3(PKD1):c.4774C>T (p.Pro1592Ser)
NM_001009944.3(PKD1):c.4793_4794del (p.Ser1598fs)
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.4797C>G (p.Tyr1599Ter)
NM_001009944.3(PKD1):c.4799C>G (p.Thr1600Ser)
NM_001009944.3(PKD1):c.4799C>T (p.Thr1600Ile)
NM_001009944.3(PKD1):c.4818del (p.Phe1607fs)
NM_001009944.3(PKD1):c.4825A>G (p.Ile1609Val)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4835_4839delinsGATGATACTGAA (p.Thr1612_Ala1613delinsArgTer)
NM_001009944.3(PKD1):c.4840G>A (p.Glu1614Lys)
NM_001009944.3(PKD1):c.4846G>A (p.Glu1616Lys)
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter) rs566014072
NM_001009944.3(PKD1):c.4850T>C (p.Val1617Ala)
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.486T>A (p.Ala162=)
NM_001009944.3(PKD1):c.4880A>G (p.Tyr1627Cys)
NM_001009944.3(PKD1):c.4882G>A (p.Val1628Ile)
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter) rs2544817521
NM_001009944.3(PKD1):c.4894A>T (p.Ile1632Leu)
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4922G>T (p.Gly1641Val)
NM_001009944.3(PKD1):c.4924C>T (p.Arg1642Cys)
NM_001009944.3(PKD1):c.4935del (p.Thr1646fs)
NM_001009944.3(PKD1):c.4947G>A (p.Thr1649=)
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.497T>C (p.Leu166Pro)
NM_001009944.3(PKD1):c.4981A>G (p.Asn1661Asp)
NM_001009944.3(PKD1):c.4981_4983del (p.Asn1661del)
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile) rs766683298
NM_001009944.3(PKD1):c.4995C>G (p.Ser1665Arg)
NM_001009944.3(PKD1):c.5006G>A (p.Trp1669Ter) rs769439901
NM_001009944.3(PKD1):c.5012_5017del (p.Asp1671_Arg1672del)
NM_001009944.3(PKD1):c.5014delinsGG (p.Arg1672fs)
NM_001009944.3(PKD1):c.5018del (p.Gly1673fs) rs1596556800
NM_001009944.3(PKD1):c.5031C>T (p.Ala1677=) rs551270517
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=) rs144091742
NM_001009944.3(PKD1):c.5042A>G (p.Lys1681Arg)
NM_001009944.3(PKD1):c.5078A>C (p.Tyr1693Ser)
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5099C>G (p.Thr1700Ser)
NM_001009944.3(PKD1):c.5116G>C (p.Ala1706Pro)
NM_001009944.3(PKD1):c.5130_5146dup (p.Glu1716fs)
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.515_516dup (p.Asp173fs)
NM_001009944.3(PKD1):c.516G>C (p.Leu172=)
NM_001009944.3(PKD1):c.5178C>T (p.Ser1726=)
NM_001009944.3(PKD1):c.5179C>G (p.Pro1727Ala)
NM_001009944.3(PKD1):c.5186C>T (p.Pro1729Leu)
NM_001009944.3(PKD1):c.5194G>A (p.Val1732Ile)
NM_001009944.3(PKD1):c.521G>C (p.Ser174Thr)
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter) rs2092456617
NM_001009944.3(PKD1):c.5229_5235del (p.Gly1744fs)
NM_001009944.3(PKD1):c.5244C>G (p.Val1748=)
NM_001009944.3(PKD1):c.5245G>C (p.Val1749Leu)
NM_001009944.3(PKD1):c.5255G>A (p.Trp1752Ter)
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.5272del (p.Gly1757_Leu1758insTer)
NM_001009944.3(PKD1):c.5287T>C (p.Ser1763Pro)
NM_001009944.3(PKD1):c.529+19G>T
NM_001009944.3(PKD1):c.529+1G>A
NM_001009944.3(PKD1):c.529+3G>C
NM_001009944.3(PKD1):c.530-4C>G
NM_001009944.3(PKD1):c.5301C>T (p.Thr1767=)
NM_001009944.3(PKD1):c.5305C>T (p.His1769Tyr)
NM_001009944.3(PKD1):c.5307T>G (p.His1769Gln) rs575064371
NM_001009944.3(PKD1):c.5321C>A (p.Pro1774His)
NM_001009944.3(PKD1):c.5330A>C (p.His1777Pro)
NM_001009944.3(PKD1):c.5339C>T (p.Thr1780Ile)
NM_001009944.3(PKD1):c.5341A>G (p.Met1781Val)
NM_001009944.3(PKD1):c.5346G>A (p.Thr1782=)
NM_001009944.3(PKD1):c.5347G>A (p.Ala1783Thr)
NM_001009944.3(PKD1):c.5351G>A (p.Gly1784Glu)
NM_001009944.3(PKD1):c.5357C>A (p.Pro1786Gln)
NM_001009944.3(PKD1):c.5369C>T (p.Ala1790Val)
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter) rs2092452489
NM_001009944.3(PKD1):c.5413_5453del (p.Leu1805fs)
NM_001009944.3(PKD1):c.5416A>G (p.Ser1806Gly)
NM_001009944.3(PKD1):c.5437G>T (p.Gly1813Ter)
NM_001009944.3(PKD1):c.5445C>A (p.Ser1815Arg)
NM_001009944.3(PKD1):c.5465C>G (p.Ser1822Cys)
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter) rs2544812084
NM_001009944.3(PKD1):c.5482C>T (p.Gln1828Ter)
NM_001009944.3(PKD1):c.548G>T (p.Cys183Phe)
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser) rs2151792963
NM_001009944.3(PKD1):c.5495G>T (p.Gly1832Val) rs2544812034
NM_001009944.3(PKD1):c.5497A>C (p.Thr1833Pro) rs1475056804
NM_001009944.3(PKD1):c.5508C>G (p.Ser1836Arg)
NM_001009944.3(PKD1):c.550C>G (p.Leu184Val)
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.5515T>A (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5530G>C (p.Gly1844Arg)
NM_001009944.3(PKD1):c.5549del (p.Pro1850fs)
NM_001009944.3(PKD1):c.554C>T (p.Pro185Leu)
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.5554G>A (p.Val1852Ile)
NM_001009944.3(PKD1):c.5558C>T (p.Thr1853Ile)
NM_001009944.3(PKD1):c.5569C>T (p.Pro1857Ser)
NM_001009944.3(PKD1):c.5580C>T (p.Gly1860=)
NM_001009944.3(PKD1):c.5592C>G (p.Ile1864Met)
NM_001009944.3(PKD1):c.5600A>C (p.Asn1867Thr)
NM_001009944.3(PKD1):c.5606C>G (p.Ser1869Cys)
NM_001009944.3(PKD1):c.5608A>C (p.Asn1870His)
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser) rs2544811132
NM_001009944.3(PKD1):c.5609A>T (p.Asn1870Ile)
NM_001009944.3(PKD1):c.5613dup (p.Val1872fs)
NM_001009944.3(PKD1):c.5620T>G (p.Trp1874Gly)
NM_001009944.3(PKD1):c.5637C>G (p.Tyr1879Ter) rs2092447380
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) rs1304952446
NM_001009944.3(PKD1):c.5707delinsGA (p.Gln1903fs)
NM_001009944.3(PKD1):c.5712G>T (p.Leu1904=)
NM_001009944.3(PKD1):c.5713del (p.Val1905fs)
NM_001009944.3(PKD1):c.5715C>G (p.Val1905=)
NM_001009944.3(PKD1):c.5731C>G (p.Leu1911Val)
NM_001009944.3(PKD1):c.5740G>A (p.Gly1914Ser)
NM_001009944.3(PKD1):c.5756del (p.Phe1919fs) rs2544809853
NM_001009944.3(PKD1):c.5758C>G (p.Arg1920Gly)
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.5778_5784del (p.Asn1927fs)
NM_001009944.3(PKD1):c.5782C>G (p.Pro1928Ala)
NM_001009944.3(PKD1):c.5791C>T (p.Leu1931Phe)
NM_001009944.3(PKD1):c.5792T>C (p.Leu1931Pro)
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.5812C>T (p.His1938Tyr)
NM_001009944.3(PKD1):c.5836C>T (p.His1946Tyr)
NM_001009944.3(PKD1):c.5839G>A (p.Val1947Met)
NM_001009944.3(PKD1):c.5848G>C (p.Val1950Leu)
NM_001009944.3(PKD1):c.5857A>G (p.Lys1953Glu)
NM_001009944.3(PKD1):c.5866G>A (p.Val1956Met)
NM_001009944.3(PKD1):c.5871C>G (p.Ser1957Arg)
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.587C>T (p.Ser196Phe)
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.5893A>G (p.Ile1965Val)
NM_001009944.3(PKD1):c.5895dup (p.Val1966fs)
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5929C>T (p.Pro1977Ser)
NM_001009944.3(PKD1):c.5936G>T (p.Cys1979Phe)
NM_001009944.3(PKD1):c.5941G>A (p.Glu1981Lys)
NM_001009944.3(PKD1):c.5958G>A (p.Thr1986=)
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.5972A>G (p.Asn1991Ser)
NM_001009944.3(PKD1):c.5993G>A (p.Arg1998His)
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.5995G>T (p.Gly1999Cys)
NM_001009944.3(PKD1):c.6004G>A (p.Val2002Ile)
NM_001009944.3(PKD1):c.6005T>A (p.Val2002Asp)
NM_001009944.3(PKD1):c.6012C>A (p.Tyr2004Ter)
NM_001009944.3(PKD1):c.601dup (p.His201fs) rs2151824362
NM_001009944.3(PKD1):c.6024C>G (p.Phe2008Leu)
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.603C>G (p.His201Gln) rs13334842
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter) rs2151790199
NM_001009944.3(PKD1):c.6090del (p.Val2031fs)
NM_001009944.3(PKD1):c.6091_6136del (p.Val2031fs)
NM_001009944.3(PKD1):c.6102del (p.Leu2035fs)
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6119T>G (p.Val2040Gly)
NM_001009944.3(PKD1):c.6132C>A (p.Asn2044Lys)
NM_001009944.3(PKD1):c.6145G>C (p.Glu2049Gln)
NM_001009944.3(PKD1):c.6148A>T (p.Asn2050Tyr)
NM_001009944.3(PKD1):c.6152G>A (p.Arg2051His)
NM_001009944.3(PKD1):c.6157C>G (p.Leu2053Val)
NM_001009944.3(PKD1):c.6167_6169dup (p.Glu2056_Val2057insGlu)
NM_001009944.3(PKD1):c.6179C>G (p.Ala2060Gly) rs753999046
NM_001009944.3(PKD1):c.6192G>T (p.Val2064=)
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6208C>T (p.Pro2070Ser)
NM_001009944.3(PKD1):c.6212G>C (p.Cys2071Ser)
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=) rs886038370
NM_001009944.3(PKD1):c.6232C>T (p.Gln2078Ter)
NM_001009944.3(PKD1):c.6233A>G (p.Gln2078Arg)
NM_001009944.3(PKD1):c.6237dup (p.Glu2080Ter)
NM_001009944.3(PKD1):c.6245C>T (p.Ala2082Val)
NM_001009944.3(PKD1):c.6250_6252del (p.Ser2084del)
NM_001009944.3(PKD1):c.6254C>G (p.Pro2085Arg)
NM_001009944.3(PKD1):c.6256_6262dup (p.Arg2088fs)
NM_001009944.3(PKD1):c.6263G>C (p.Arg2088Pro)
NM_001009944.3(PKD1):c.6266G>A (p.Arg2089His)
NM_001009944.3(PKD1):c.6272C>T (p.Ala2091Val)
NM_001009944.3(PKD1):c.6278A>G (p.His2093Arg)
NM_001009944.3(PKD1):c.6280T>G (p.Trp2094Gly)
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser) rs1596552090
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs) rs2151824295
NM_001009944.3(PKD1):c.6292G>A (p.Asp2098Asn)
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly) rs2151788839
NM_001009944.3(PKD1):c.6293A>T (p.Asp2098Val)
NM_001009944.3(PKD1):c.6298_6299delinsCT (p.Ser2100Leu)
NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr) rs2092673697
NM_001009944.3(PKD1):c.6302C>A (p.Pro2101Gln)
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro) rs1596551934
NM_001009944.3(PKD1):c.6346A>T (p.Arg2116Trp)
NM_001009944.3(PKD1):c.6361C>A (p.Arg2121Ser)
NM_001009944.3(PKD1):c.6370G>T (p.Val2124Leu)
NM_001009944.3(PKD1):c.6383A>C (p.Asn2128Thr)
NM_001009944.3(PKD1):c.6384C>A (p.Asn2128Lys)
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys) rs1247882278
NM_001009944.3(PKD1):c.6400G>A (p.Val2134Met)
NM_001009944.3(PKD1):c.6404_6415del (p.Ala2135_Thr2138del)
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) rs2092425533
NM_001009944.3(PKD1):c.6413C>T (p.Thr2138Met)
NM_001009944.3(PKD1):c.6421G>T (p.Val2141Phe)
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter) rs2151788037
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter) rs2092423837
NM_001009944.3(PKD1):c.6485G>A (p.Arg2162Gln)
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.648C>T (p.Ser216=)
NM_001009944.3(PKD1):c.6491C>T (p.Ser2164Leu)
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter) rs1485307916
NM_001009944.3(PKD1):c.6497G>A (p.Arg2166His)
NM_001009944.3(PKD1):c.6497G>T (p.Arg2166Leu)
NM_001009944.3(PKD1):c.6512C>T (p.Ala2171Val) rs755655916
NM_001009944.3(PKD1):c.6518T>C (p.Val2173Ala)
NM_001009944.3(PKD1):c.6526C>T (p.Arg2176Cys)
NM_001009944.3(PKD1):c.6535G>A (p.Val2179Ile)
NM_001009944.3(PKD1):c.6537del (p.Thr2180fs)
NM_001009944.3(PKD1):c.6545_6603delinsGCTCG (p.Gln2182_Pro2201delinsArgSer) rs2544801847
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6552G>T (p.Glu2184Asp)
NM_001009944.3(PKD1):c.6561G>A (p.Trp2187Ter)
NM_001009944.3(PKD1):c.6576_6582del (p.Cys2195fs)
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter) rs1567192286
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs) rs1567192229
NM_001009944.3(PKD1):c.6599_6614dup (p.Leu2206fs)
NM_001009944.3(PKD1):c.659del (p.Gly220fs) rs2151824233
NM_001009944.3(PKD1):c.6607C>T (p.Arg2203Cys)
NM_001009944.3(PKD1):c.6608G>A (p.Arg2203His)
NM_001009944.3(PKD1):c.6608G>T (p.Arg2203Leu) rs765511448
NM_001009944.3(PKD1):c.6611_6612del (p.Val2204fs)
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.6631G>A (p.Val2211Met)
NM_001009944.3(PKD1):c.6644G>A (p.Arg2215Gln)
NM_001009944.3(PKD1):c.664G>C (p.Ala222Pro)
NM_001009944.3(PKD1):c.6656C>G (p.Pro2219Arg)
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.6656del (p.Pro2219fs)
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu) rs1567218284
NM_001009944.3(PKD1):c.6677G>A (p.Gly2226Glu)
NM_001009944.3(PKD1):c.667G>C (p.Ala223Pro) rs2544880420
NM_001009944.3(PKD1):c.6683A>C (p.Tyr2228Ser)
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6693_6694del (p.Phe2232fs)
NM_001009944.3(PKD1):c.6709G>C (p.Gly2237Arg)
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter) rs1567191609
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6729G>C (p.Gln2243His)
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.6733A>T (p.Ile2245Phe)
NM_001009944.3(PKD1):c.6734_6737del (p.Ile2245fs)
NM_001009944.3(PKD1):c.6735C>G (p.Ile2245Met)
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.673_674del (p.Ser225fs) rs2544880396
NM_001009944.3(PKD1):c.674C>G (p.Ser225Trp)
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.6755C>T (p.Ala2252Val)
NM_001009944.3(PKD1):c.6759del (p.Glu2254fs) rs2544800556
NM_001009944.3(PKD1):c.675G>C (p.Ser225=)
NM_001009944.3(PKD1):c.6760G>A (p.Glu2254Lys)
NM_001009944.3(PKD1):c.6763C>T (p.Arg2255Cys) rs199803853
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del) rs2544800298
NM_001009944.3(PKD1):c.6786del (p.Gly2263fs)
NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.6797G>A (p.Arg2266His)
NM_001009944.3(PKD1):c.6802_6803del (p.Trp2268fs)
NM_001009944.3(PKD1):c.6803G>A (p.Trp2268Ter)
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6810C>G (p.Asp2270Glu)
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs) rs1567191145
NM_001009944.3(PKD1):c.6815G>A (p.Arg2272Gln)
NM_001009944.3(PKD1):c.6830A>T (p.Asp2277Val)
NM_001009944.3(PKD1):c.6837C>T (p.Ser2279=)
NM_001009944.3(PKD1):c.6859G>T (p.Glu2287Ter)
NM_001009944.3(PKD1):c.6867C>T (p.Gly2289=)
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter) rs755591790
NM_001009944.3(PKD1):c.6881T>C (p.Leu2294Pro)
NM_001009944.3(PKD1):c.6890A>C (p.His2297Pro)
NM_001009944.3(PKD1):c.6892T>G (p.Trp2298Gly)
NM_001009944.3(PKD1):c.689G>T (p.Cys230Phe)
NM_001009944.3(PKD1):c.68C>G (p.Ala23Gly)
NM_001009944.3(PKD1):c.68C>T (p.Ala23Val)
NM_001009944.3(PKD1):c.6900T>A (p.Cys2300Ter)
NM_001009944.3(PKD1):c.6915+1G>A rs2151785467
NM_001009944.3(PKD1):c.6915+3C>G
NM_001009944.3(PKD1):c.6916-10C>T
NM_001009944.3(PKD1):c.6916-5T>A
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.6925G>T (p.Gly2309Cys)
NM_001009944.3(PKD1):c.692T>C (p.Leu231Pro)
NM_001009944.3(PKD1):c.6932G>A (p.Cys2311Tyr)
NM_001009944.3(PKD1):c.6935C>G (p.Ala2312Gly)
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg) rs2151824152
NM_001009944.3(PKD1):c.6979C>G (p.Arg2327Gly)
NM_001009944.3(PKD1):c.6980G>A (p.Arg2327Gln)
NM_001009944.3(PKD1):c.6985C>T (p.Arg2329Trp)
NM_001009944.3(PKD1):c.6986G>A (p.Arg2329Gln)
NM_001009944.3(PKD1):c.6992C>A (p.Ala2331Glu)
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7004dup (p.Tyr2336fs)
NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys) rs2151783812
NM_001009944.3(PKD1):c.7010C>G (p.Thr2337Ser)
NM_001009944.3(PKD1):c.7012T>C (p.Phe2338Leu)
NM_001009944.3(PKD1):c.7024G>A (p.Val2342Met)
NM_001009944.3(PKD1):c.7036G>A (p.Gly2346Ser)
NM_001009944.3(PKD1):c.7037G>T (p.Gly2346Val)
NM_001009944.3(PKD1):c.7040G>A (p.Arg2347His)
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs) rs1596548114
NM_001009944.3(PKD1):c.704C>G (p.Ala235Gly)
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter) rs2092400157
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001009944.3(PKD1):c.7065+2T>C
NM_001009944.3(PKD1):c.7065+2del
NM_001009944.3(PKD1):c.7066-2A>G rs2544785397
NM_001009944.3(PKD1):c.7081G>T (p.Gly2361Cys)
NM_001009944.3(PKD1):c.7089G>A (p.Val2363=)
NM_001009944.3(PKD1):c.7108T>A (p.Cys2370Ser)
NM_001009944.3(PKD1):c.7109G>A (p.Cys2370Tyr)
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr) rs2544784938
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7127A>G (p.Gln2376Arg)
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7159G>A (p.Val2387Met)
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7175G>C (p.Arg2392Pro)
NM_001009944.3(PKD1):c.7184A>G (p.Asn2395Ser)
NM_001009944.3(PKD1):c.7184dup (p.Asn2395fs)
NM_001009944.3(PKD1):c.7187G>A (p.Cys2396Tyr)
NM_001009944.3(PKD1):c.7196G>A (p.Gly2399Asp)
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7205G>A (p.Arg2402Gln)
NM_001009944.3(PKD1):c.7209+14G>A
NM_001009944.3(PKD1):c.7209+1G>A
NM_001009944.3(PKD1):c.7209+4_7209+7del
NM_001009944.3(PKD1):c.7220C>T (p.Ala2407Val)
NM_001009944.3(PKD1):c.7222C>G (p.Arg2408Gly)
NM_001009944.3(PKD1):c.7223G>A (p.Arg2408His)
NM_001009944.3(PKD1):c.7223del (p.Arg2408fs)
NM_001009944.3(PKD1):c.7233C>G (p.Ser2411Arg)
NM_001009944.3(PKD1):c.7237_7238del (p.Lys2413fs) rs2544782282
NM_001009944.3(PKD1):c.7250T>C (p.Leu2417Pro)
NM_001009944.3(PKD1):c.7253A>T (p.Asp2418Val)
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) rs1555453207
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7307_7318del (p.Gly2436_Arg2439del)
NM_001009944.3(PKD1):c.7315C>T (p.Arg2439Trp)
NM_001009944.3(PKD1):c.731G>A (p.Cys244Tyr)
NM_001009944.3(PKD1):c.7323C>T (p.Gly2441=)
NM_001009944.3(PKD1):c.7327G>A (p.Gly2443Arg)
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=) rs573611925
NM_001009944.3(PKD1):c.7343T>G (p.Leu2448Arg)
NM_001009944.3(PKD1):c.7347G>A (p.Thr2449=)
NM_001009944.3(PKD1):c.7357C>T (p.Arg2453Cys)
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del) rs1391744174
NM_001009944.3(PKD1):c.736T>G (p.Ser246Ala)
NM_001009944.3(PKD1):c.737C>T (p.Ser246Phe)
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu) rs539143745
NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)
NM_001009944.3(PKD1):c.7447G>A (p.Ala2483Thr)
NM_001009944.3(PKD1):c.744C>G (p.Cys248Trp)
NM_001009944.3(PKD1):c.7469dup (p.Val2491fs)
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg) rs2092338268
NM_001009944.3(PKD1):c.7487del (p.Thr2496fs)
NM_001009944.3(PKD1):c.7489+12C>T
NM_001009944.3(PKD1):c.7489+5G>A rs2092337963
NM_001009944.3(PKD1):c.7489+8C>T
NM_001009944.3(PKD1):c.7490-11C>G
NM_001009944.3(PKD1):c.7490-13G>T
NM_001009944.3(PKD1):c.7490-16G>A
NM_001009944.3(PKD1):c.7490-1G>A
NM_001009944.3(PKD1):c.7490-1G>C
NM_001009944.3(PKD1):c.7490-9G>A
NM_001009944.3(PKD1):c.7496A>G (p.His2499Arg)
NM_001009944.3(PKD1):c.74del (p.Gly25fs)
NM_001009944.3(PKD1):c.74dup (p.Gly27fs)
NM_001009944.3(PKD1):c.7543C>T (p.Arg2515Trp)
NM_001009944.3(PKD1):c.7544G>A (p.Arg2515Gln)
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly) rs797044902
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His) rs781066020
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter) rs2151772321
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.755C>T (p.Pro252Leu)
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del) rs1555452876
NM_001009944.3(PKD1):c.7590C>T (p.Gly2530=)
NM_001009944.3(PKD1):c.7591dup (p.Ser2531fs)
NM_001009944.3(PKD1):c.7622dup (p.Arg2544fs)
NM_001009944.3(PKD1):c.7623G>A (p.Pro2541=)
NM_001009944.3(PKD1):c.7633C>T (p.Pro2545Ser)
NM_001009944.3(PKD1):c.7637A>G (p.His2546Arg)
NM_001009944.3(PKD1):c.7650C>T (p.Gly2550=)
NM_001009944.3(PKD1):c.7657G>A (p.Val2553Met)
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7672C>T (p.Gln2558Ter) rs2544777318
NM_001009944.3(PKD1):c.7684G>A (p.Ala2562Thr)
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly) rs2092327341
NM_001009944.3(PKD1):c.7703+2T>A
NM_001009944.3(PKD1):c.7703+5G>C
NM_001009944.3(PKD1):c.7709T>C (p.Leu2570Ser)
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val) rs1555452734
NM_001009944.3(PKD1):c.771del (p.Thr258fs)
NM_001009944.3(PKD1):c.7730C>A (p.Pro2577His)
NM_001009944.3(PKD1):c.7738A>C (p.Ser2580Arg)
NM_001009944.3(PKD1):c.7738A>G (p.Ser2580Gly)
NM_001009944.3(PKD1):c.7784T>A (p.Val2595Glu)
NM_001009944.3(PKD1):c.7795del (p.Leu2599fs)
NM_001009944.3(PKD1):c.7807G>T (p.Ala2603Ser)
NM_001009944.3(PKD1):c.7817del (p.Gln2606fs)
NM_001009944.3(PKD1):c.7827del (p.Ile2609fs)
NM_001009944.3(PKD1):c.7832_7835dup (p.Ala2614fs)
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del) rs2544775052
NM_001009944.3(PKD1):c.7844_7851del (p.Leu2615fs)
NM_001009944.3(PKD1):c.7845G>A (p.Leu2615=)
NM_001009944.3(PKD1):c.7849A>G (p.Thr2617Ala)
NM_001009944.3(PKD1):c.7859dup (p.Asn2620fs)
NM_001009944.3(PKD1):c.7863+1G>A
NM_001009944.3(PKD1):c.7864-1G>A rs2092305301
NM_001009944.3(PKD1):c.7864-2A>T
NM_001009944.3(PKD1):c.7892_7911del (p.Glu2631fs)
NM_001009944.3(PKD1):c.7894C>T (p.Pro2632Ser)
NM_001009944.3(PKD1):c.7907G>T (p.Arg2636Leu)
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7919C>T (p.Ala2640Val)
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7951G>T (p.Val2651Leu)
NM_001009944.3(PKD1):c.7951del (p.Val2651fs) rs2151766847
NM_001009944.3(PKD1):c.7955C>G (p.Ser2652Cys)
NM_001009944.3(PKD1):c.796C>T (p.Gln266Ter) rs2151823901
NM_001009944.3(PKD1):c.7973dup (p.Asp2659fs)
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=) rs537012440
NM_001009944.3(PKD1):c.7996G>A (p.Ala2666Thr)
NM_001009944.3(PKD1):c.8000C>T (p.Ala2667Val)
NM_001009944.3(PKD1):c.8006C>T (p.Ala2669Val)
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter) rs2092301272
NM_001009944.3(PKD1):c.8016+1G>A rs2544768869
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8016+5G>T
NM_001009944.3(PKD1):c.8017-10C>T
NM_001009944.3(PKD1):c.8018_8019del
NM_001009944.3(PKD1):c.8024G>C (p.Ser2675Thr)
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile) rs1269793804
NM_001009944.3(PKD1):c.8032C>T (p.Leu2678Phe)
NM_001009944.3(PKD1):c.8035G>A (p.Val2679Ile)
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs) rs2092262890
NM_001009944.3(PKD1):c.8054_8055delinsC (p.Lys2685fs)
NM_001009944.3(PKD1):c.8065C>T (p.His2689Tyr)
NM_001009944.3(PKD1):c.8072T>A (p.Leu2691Gln) rs2544758004
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter) rs1222094213
NM_001009944.3(PKD1):c.8110G>T (p.Ala2704Ser)
NM_001009944.3(PKD1):c.8115C>T (p.Gly2705=)
NM_001009944.3(PKD1):c.8117C>T (p.Thr2706Ile)
NM_001009944.3(PKD1):c.8125C>T (p.Pro2709Ser)
NM_001009944.3(PKD1):c.8131G>A (p.Ala2711Thr)
NM_001009944.3(PKD1):c.8137G>A (p.Gly2713Arg)
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu) rs1395231369
NM_001009944.3(PKD1):c.8150delinsATCCG (p.Leu2717fs)
NM_001009944.3(PKD1):c.8161+2_8161+3delinsGT
NM_001009944.3(PKD1):c.8161+6G>T
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8171T>A (p.Ile2724Asn)
NM_001009944.3(PKD1):c.8172C>T (p.Ile2724=)
NM_001009944.3(PKD1):c.8183G>T (p.Ser2728Ile)
NM_001009944.3(PKD1):c.8186C>A (p.Ser2729Ter)
NM_001009944.3(PKD1):c.8197G>C (p.Ala2733Pro)
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.8222C>G (p.Ala2741Gly)
NM_001009944.3(PKD1):c.8239A>G (p.Met2747Val)
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs) rs1596527579
NM_001009944.3(PKD1):c.8240T>C (p.Met2747Thr)
NM_001009944.3(PKD1):c.8242G>C (p.Val2748Leu)
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter) rs2092205600
NM_001009944.3(PKD1):c.825del (p.Thr276fs)
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer) rs2151756041
NM_001009944.3(PKD1):c.8273C>T (p.Ala2758Val)
NM_001009944.3(PKD1):c.827C>G (p.Thr276Ser)
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro) rs145629362
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8288T>C (p.Leu2763Pro) rs2092204260
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8299C>G (p.Arg2767Gly)
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8299_8310del (p.Arg2767_Asn2770del)
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu) rs1456510041
NM_001009944.3(PKD1):c.8302_8305del (p.Val2768fs)
NM_001009944.3(PKD1):c.8304_8326del (p.Leu2769fs)
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs) rs2092202856
NM_001009944.3(PKD1):c.8337_8366delinsTC (p.Glu2779fs)
NM_001009944.3(PKD1):c.8343del (p.Ile2781fs)
NM_001009944.3(PKD1):c.8354G>A (p.Gly2785Asp) rs2544745312
NM_001009944.3(PKD1):c.8359C>G (p.Arg2787Gly)
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp) rs761060813
NM_001009944.3(PKD1):c.8363C>T (p.Ser2788Leu)
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs) rs1057518604
NM_001009944.3(PKD1):c.8378T>C (p.Leu2793Pro)
NM_001009944.3(PKD1):c.8382_8386del (p.Cys2795fs)
NM_001009944.3(PKD1):c.8398C>T (p.Pro2800Ser)
NM_001009944.3(PKD1):c.8407G>C (p.Gly2803Arg)
NM_001009944.3(PKD1):c.8408G>A (p.Gly2803Asp)
NM_001009944.3(PKD1):c.8408_8409delinsT (p.Gly2803fs)
NM_001009944.3(PKD1):c.8426C>A (p.Pro2809His)
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter) rs777608163
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=) rs886038371
NM_001009944.3(PKD1):c.8447T>A (p.Leu2816Gln)
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8457_8458del (p.Leu2819_Ser2820insTer)
NM_001009944.3(PKD1):c.846_852del (p.Ser286_Gly287insTer)
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_001009944.3(PKD1):c.8487G>A (p.Val2829=)
NM_001009944.3(PKD1):c.8491dup (p.Ser2831fs)
NM_001009944.3(PKD1):c.8498C>T (p.Pro2833Leu)
NM_001009944.3(PKD1):c.8503C>T (p.Pro2835Ser)
NM_001009944.3(PKD1):c.8523C>G (p.Asn2841Lys)
NM_001009944.3(PKD1):c.8524dup (p.Tyr2842fs)
NM_001009944.3(PKD1):c.8534CCA[3] (p.Thr2846_Lys2847insThr)
NM_001009944.3(PKD1):c.8549C>T (p.Ser2850Leu)
NM_001009944.3(PKD1):c.8553G>A (p.Met2851Ile)
NM_001009944.3(PKD1):c.8554G>C (p.Ala2852Pro)
NM_001009944.3(PKD1):c.8558T>C (p.Phe2853Ser)
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.8566C>T (p.Gln2856Ter) rs2092189640
NM_001009944.3(PKD1):c.8569G>A (p.Ala2857Thr)
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.856_862dup (p.Gln288fs)
NM_001009944.3(PKD1):c.8584C>T (p.Pro2862Ser)
NM_001009944.3(PKD1):c.858T>A (p.Ser286=)
NM_001009944.3(PKD1):c.8608C>T (p.Arg2870Cys)
NM_001009944.3(PKD1):c.8634C>G (p.Asn2878Lys)
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter) rs2544742591
NM_001009944.3(PKD1):c.8653C>T (p.Arg2885Trp)
NM_001009944.3(PKD1):c.8657_8661del (p.Gly2886fs)
NM_001009944.3(PKD1):c.8661C>G (p.His2887Gln)
NM_001009944.3(PKD1):c.8669C>A (p.Ser2890Tyr)
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.8684A>T (p.Asn2895Ile)
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.8699A>T (p.Gln2900Leu)
NM_001009944.3(PKD1):c.8703_8704del (p.Gln2902fs)
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8705A>C (p.Gln2902Pro)
NM_001009944.3(PKD1):c.8705A>G (p.Gln2902Arg) rs1400163523
NM_001009944.3(PKD1):c.8707G>T (p.Ala2903Ser)
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs) rs2151754069
NM_001009944.3(PKD1):c.8725G>A (p.Val2909Ile)
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter) rs747638599
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His) rs954124689
NM_001009944.3(PKD1):c.8795A>T (p.His2932Leu) rs201524173
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys) rs2151752267
NM_001009944.3(PKD1):c.8834A>G (p.Tyr2945Cys)
NM_001009944.3(PKD1):c.884C>A (p.Ala295Asp) rs745988311
NM_001009944.3(PKD1):c.8864A>G (p.His2955Arg)
NM_001009944.3(PKD1):c.8867A>G (p.Asn2956Ser)
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter) rs750780241
NM_001009944.3(PKD1):c.8879_8880delinsTT (p.Ser2960Ile)
NM_001009944.3(PKD1):c.8891G>T (p.Arg2964Leu)
NM_001009944.3(PKD1):c.8894C>T (p.Pro2965Leu)
NM_001009944.3(PKD1):c.8909G>C (p.Gly2970Ala)
NM_001009944.3(PKD1):c.8909del (p.Gly2970fs) rs2544737008
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg) rs757527492
NM_001009944.3(PKD1):c.8920C>G (p.Arg2974Gly)
NM_001009944.3(PKD1):c.8930C>T (p.Thr2977Ile)
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser) rs1596523677
NM_001009944.3(PKD1):c.8936T>C (p.Phe2979Ser)
NM_001009944.3(PKD1):c.8945dup (p.Ser2984fs)
NM_001009944.3(PKD1):c.8948+1del
NM_001009944.3(PKD1):c.8949G>A (p.Gly2983=)
NM_001009944.3(PKD1):c.8953A>G (p.Arg2985Gly)
NM_001009944.3(PKD1):c.8956G>C (p.Asp2986His)
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.8971T>G (p.Tyr2991Asp)
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter) rs1567174997
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter) rs1596522636
NM_001009944.3(PKD1):c.8973_8975del (p.His2992del)
NM_001009944.3(PKD1):c.8978T>A (p.Leu2993Gln) rs1555450487
NM_001009944.3(PKD1):c.898G>A (p.Val300Ile)
NM_001009944.3(PKD1):c.8998C>G (p.Arg3000Gly)
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.9003G>A (p.Trp3001Ter)
NM_001009944.3(PKD1):c.9005C>T (p.Ser3002Leu)
NM_001009944.3(PKD1):c.9016G>C (p.Val3006Leu)
NM_001009944.3(PKD1):c.9019T>A (p.Ser3007Thr)
NM_001009944.3(PKD1):c.9020C>T (p.Ser3007Phe)
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.902C>T (p.Thr301Ile)
NM_001009944.3(PKD1):c.9031T>A (p.Tyr3011Asn)
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro) rs2151750096
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg) rs2151750082
NM_001009944.3(PKD1):c.9072G>A (p.Val3024=)
NM_001009944.3(PKD1):c.9074G>C (p.Trp3025Ser)
NM_001009944.3(PKD1):c.9075G>A (p.Trp3025Ter)
NM_001009944.3(PKD1):c.9105G>T (p.Glu3035Asp)
NM_001009944.3(PKD1):c.910C>G (p.Arg304Gly) rs543328728
NM_001009944.3(PKD1):c.9111_9132del (p.Arg3039fs)
NM_001009944.3(PKD1):c.9112C>A (p.Pro3038Thr)
NM_001009944.3(PKD1):c.9112C>T (p.Pro3038Ser)
NM_001009944.3(PKD1):c.9115C>T (p.Arg3039Cys) rs200522524
NM_001009944.3(PKD1):c.9154G>A (p.Gly3052Ser)
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val) rs769436046
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9178dup (p.Ser3060fs)
NM_001009944.3(PKD1):c.9182A>G (p.His3061Arg)
NM_001009944.3(PKD1):c.9184G>C (p.Val3062Leu)
NM_001009944.3(PKD1):c.9186C>A (p.Val3062=)
NM_001009944.3(PKD1):c.9188G>C (p.Arg3063Pro)
NM_001009944.3(PKD1):c.9195_9199delinsCCTT (p.Phe3066fs)
NM_001009944.3(PKD1):c.9200C>G (p.Pro3067Arg)
NM_001009944.3(PKD1):c.9201+1G>A rs2151749304
NM_001009944.3(PKD1):c.9201+4A>G
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9201T>G (p.Pro3067=)
NM_001009944.3(PKD1):c.9202-13T>A
NM_001009944.3(PKD1):c.9202-3C>A
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9262_9263insGT (p.Tyr3088fs)
NM_001009944.3(PKD1):c.9262dup (p.Tyr3088fs)
NM_001009944.3(PKD1):c.9264del (p.Thr3087_Tyr3088insTer)
NM_001009944.3(PKD1):c.9265A>G (p.Met3089Val)
NM_001009944.3(PKD1):c.928G>A (p.Gly310Ser)
NM_001009944.3(PKD1):c.9296del (p.Asp3099fs) rs2544730531
NM_001009944.3(PKD1):c.9302T>A (p.Leu3101Ter) rs2544730498
NM_001009944.3(PKD1):c.9329C>G (p.Pro3110Arg)
NM_001009944.3(PKD1):c.932_960del (p.Ser311fs)
NM_001009944.3(PKD1):c.934G>C (p.Ala312Pro)
NM_001009944.3(PKD1):c.9368T>A (p.Leu3123His)
NM_001009944.3(PKD1):c.9395C>G (p.Ser3132Ter)
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9398G>A (p.Gly3133Asp)
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu) rs1358566538
NM_001009944.3(PKD1):c.9413T>A (p.Val3138Glu)
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9431G>A (p.Gly3144Glu)
NM_001009944.3(PKD1):c.9451del (p.His3151fs)
NM_001009944.3(PKD1):c.9461T>C (p.Leu3154Pro)
NM_001009944.3(PKD1):c.946G>A (p.Ala316Thr)
NM_001009944.3(PKD1):c.9481C>T (p.His3161Tyr)
NM_001009944.3(PKD1):c.9504C>G (p.Phe3168Leu)
NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val) rs2092048001
NM_001009944.3(PKD1):c.9522del (p.His3174fs)
NM_001009944.3(PKD1):c.9535G>A (p.Val3179Met)
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn) rs2092047055
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.9555G>A (p.Trp3185Ter)
NM_001009944.3(PKD1):c.9556C>G (p.His3186Asp)
NM_001009944.3(PKD1):c.9559G>A (p.Asp3187Asn)
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9562A>T (p.Asn3188Tyr)
NM_001009944.3(PKD1):c.9563_9568+2delinsCTCGG
NM_001009944.3(PKD1):c.9569-1G>A rs2151741177
NM_001009944.3(PKD1):c.9588C>G (p.Phe3196Leu)
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter) rs1474701377
NM_001009944.3(PKD1):c.9595_9618del (p.His3199_Gln3206del)
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe) rs1422698524
NM_001009944.3(PKD1):c.9604G>A (p.Val3202Ile)
NM_001009944.3(PKD1):c.9607_9608del (p.Arg3203fs)
NM_001009944.3(PKD1):c.9611A>T (p.Asp3204Val) rs1596513913
NM_001009944.3(PKD1):c.9622G>A (p.Ala3208Thr)
NM_001009944.3(PKD1):c.9654G>A (p.Trp3218Ter)
NM_001009944.3(PKD1):c.9656T>G (p.Leu3219Arg) rs2544715606
NM_001009944.3(PKD1):c.9660G>A (p.Ser3220=)
NM_001009944.3(PKD1):c.9672G>C (p.Glu3224Asp)
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9678C>G (p.Asn3226Lys)
NM_001009944.3(PKD1):c.9678_9679insA (p.Gly3227fs)
NM_001009944.3(PKD1):c.9682_9683dup (p.Leu3229fs)
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9685C>G (p.Leu3229Val)
NM_001009944.3(PKD1):c.9686del (p.Leu3229fs)
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter) rs2151740638
NM_001009944.3(PKD1):c.9695A>G (p.Lys3232Arg) rs988225678
NM_001009944.3(PKD1):c.9714C>T (p.Ser3238=)
NM_001009944.3(PKD1):c.9715G>A (p.Asp3239Asn) rs774484157
NM_001009944.3(PKD1):c.9731G>A (p.Arg3244His)
NM_001009944.3(PKD1):c.9760C>T (p.Gln3254Ter) rs2544713742
NM_001009944.3(PKD1):c.9773_9787del (p.Phe3258_Ile3262del)
NM_001009944.3(PKD1):c.9777C>G (p.Asp3259Glu)
NM_001009944.3(PKD1):c.9789G>T (p.Trp3263Cys)
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr) rs1188643869
NM_001009944.3(PKD1):c.97T>C (p.Cys33Arg)
NM_001009944.3(PKD1):c.9806G>A (p.Arg3269Gln)
NM_001009944.3(PKD1):c.9818G>C (p.Ser3273Thr)
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs) rs1596512729
NM_001009944.3(PKD1):c.9827C>G (p.Thr3276Ser)
NM_001009944.3(PKD1):c.9832A>G (p.Ile3278Val)
NM_001009944.3(PKD1):c.9834C>G (p.Ile3278Met)
NM_001009944.3(PKD1):c.9835C>T (p.Gln3279Ter)
NM_001009944.3(PKD1):c.9842C>G (p.Ala3281Gly)
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs) rs2544712716
NM_001009944.3(PKD1):c.9886dup (p.Ala3296fs)
NM_001009944.3(PKD1):c.989G>A (p.Arg330His)
NM_001009944.3(PKD1):c.9904G>A (p.Val3302Ile)
NM_001009944.3(PKD1):c.9904G>C (p.Val3302Leu)
NM_001009944.3(PKD1):c.9904G>T (p.Val3302Phe)
NM_001009944.3(PKD1):c.9924-1G>C rs2151738493
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487
NM_001009944.3(PKD1):c.9930dup (p.His3311fs)
NM_001009944.3(PKD1):c.9931C>T (p.His3311Tyr) rs1442974903
NM_001009944.3(PKD1):c.994C>T (p.His332Tyr)
NM_001009944.3(PKD1):c.9965C>T (p.Thr3322Ile)
NM_001009944.3(PKD1):c.9983dup (p.Ser3329fs)
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980
NM_001009944.3(PKD1):c.9997G>C (p.Val3333Leu)

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