ClinVar Miner

List of variants studied for familial cystic renal disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3661
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_198334.3(GANAB):c.714G>A (p.Pro238=) rs139305180 0.01448
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00924
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_198334.3(GANAB):c.380+15A>G rs146098557 0.00910
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_001009944.3(PKD1):c.11411+18C>T rs183078730 0.00483
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00448
NM_001009944.3(PKD1):c.7065+21G>A rs9930234 0.00418
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=) rs139399947 0.00411
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00383
NM_003361.4(UMOD):c.1740+18C>T rs113452476 0.00381
NM_003361.4(UMOD):c.1353C>G (p.Gly451=) rs111904030 0.00378
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_003361.4(UMOD):c.1062C>T (p.Phe354=) rs78613713 0.00362
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00354
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=) rs57870377 0.00331
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00328
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00324
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=) rs138648495 0.00324
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00316
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_198334.3(GANAB):c.38+17C>T rs200471233 0.00275
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=) rs143013095 0.00239
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00226
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp) rs143953714 0.00215
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319 0.00199
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00139
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=) rs146745256 0.00137
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00125
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00116
NM_001009944.3(PKD1):c.8161+12C>T rs375283810 0.00113
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00109
NM_178170.3(NEK8):c.1489G>C (p.Ala497Pro) rs146326420 0.00106
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=) rs141138826 0.00094
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00093
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_138694.4(PKHD1):c.3097+15G>T rs376878007 0.00093
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=) rs144663361 0.00092
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00091
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=) rs149623670 0.00090
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041 0.00087
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser) rs200279710 0.00076
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=) rs570750726 0.00073
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=) rs12102740 0.00073
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=) rs149924232 0.00068
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=) rs373854628 0.00068
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_198334.3(GANAB):c.1386+18C>T rs79188721 0.00066
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001009944.3(PKD1):c.9713-4C>T rs200434097 0.00058
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_001009944.3(PKD1):c.12139-5C>T rs146430229 0.00055
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=) rs547262346 0.00054
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_138694.4(PKHD1):c.11311-19C>G rs181140024 0.00052
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_178170.3(NEK8):c.419G>T (p.Arg140Leu) rs141599330 0.00048
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00045
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=) rs2575316 0.00045
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=) rs148159605 0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_173543.3(DZIP1L):c.256G>T (p.Val86Leu) rs142726001 0.00044
NM_138694.4(PKHD1):c.11310+13A>G rs191991777 0.00043
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=) rs768813212 0.00041
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00040
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=) rs181130940 0.00040
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654 0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00037
NM_003361.4(UMOD):c.1500A>G (p.Ala500=) rs200895986 0.00037
NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln) rs753359659 0.00036
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=) rs373880615 0.00034
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=) rs375408086 0.00033
NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro) rs144365187 0.00033
NM_000297.4(PKD2):c.198C>A (p.Asp66Glu) rs988396505 0.00032
NM_001009944.3(PKD1):c.951T>C (p.Ala317=) rs540366995 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro) rs143248111 0.00032
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=) rs141132307 0.00031
NM_138694.4(PKHD1):c.1643A>G (p.Lys548Arg) rs145163993 0.00030
NM_001009944.3(PKD1):c.10221-14C>T rs201207354 0.00029
NM_138694.4(PKHD1):c.8174-19A>T rs758233215 0.00028
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131 0.00024
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=) rs376075101 0.00023
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=) rs145648167 0.00023
NM_001009944.3(PKD1):c.10822-8C>G rs9924796 0.00022
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00022
NM_138694.4(PKHD1):c.3098-13G>A rs371242359 0.00022
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) rs199933041 0.00022
NM_001009944.3(PKD1):c.288-20G>A rs572319823 0.00021
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln) rs371665285 0.00021
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) rs950293866 0.00020
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr) rs201599671 0.00020
NM_001009944.3(PKD1):c.6915+19C>T rs371376951 0.00020
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00020
NM_138694.4(PKHD1):c.2821+10G>A rs367619854 0.00020
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478 0.00020
NM_138694.4(PKHD1):c.4540G>C (p.Asp1514His) rs147098776 0.00020
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074 0.00020
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860 0.00019
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_138694.4(PKHD1):c.1603-19T>A rs201996881 0.00019
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) rs143867809 0.00019
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537 0.00019
NM_173543.3(DZIP1L):c.1017A>G (p.Arg339=) rs147201722 0.00019
NM_001009944.3(PKD1):c.11412-6C>T rs367775096 0.00018
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=) rs759092782 0.00018
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=) rs377662680 0.00018
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136 0.00018
NM_138694.4(PKHD1):c.6490+8A>G rs201984652 0.00018
NM_198334.3(GANAB):c.2343C>T (p.Ser781=) rs779306237 0.00018
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp) rs746771378 0.00017
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His) rs375198888 0.00017
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys) rs137972270 0.00017
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=) rs150202544 0.00017
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552 0.00017
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln) rs759950842 0.00016
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=) rs767721989 0.00016
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326 0.00016
NM_001009944.3(PKD1):c.543C>T (p.Val181=) rs1365608859 0.00016
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956 0.00016
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551 0.00016
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 0.00016
NM_138694.4(PKHD1):c.8951-19G>A rs200025399 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_198334.3(GANAB):c.2253G>A (p.Ala751=) rs200456484 0.00016
NM_001009944.3(PKD1):c.10161C>T (p.His3387=) rs143350197 0.00015
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=) rs530703053 0.00015
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu) rs200646755 0.00015
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=) rs372759889 0.00015
NM_001009944.3(PKD1):c.8176C>T (p.Leu2726=) rs573754849 0.00015
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr) rs145219220 0.00015
NM_138694.4(PKHD1):c.588G>A (p.Arg196=) rs201773743 0.00015
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) rs199897497 0.00015
NM_000297.4(PKD2):c.2583C>T (p.Asp861=) rs369520452 0.00014
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser) rs146527465 0.00014
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) rs760315179 0.00014
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=) rs764827551 0.00014
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=) rs199988586 0.00014
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln) rs387907549 0.00014
NM_003361.4(UMOD):c.504C>T (p.Leu168=) rs369454700 0.00014
NM_003361.4(UMOD):c.973+7C>T rs557659943 0.00014
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser) rs148108992 0.00014
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp) rs756825030 0.00014
NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu) rs146989750 0.00014
NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser) rs199823733 0.00014
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=) rs183090717 0.00013
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=) rs143124196 0.00013
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) rs17135779 0.00013
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile) rs188709583 0.00013
NM_003361.4(UMOD):c.599G>A (p.Arg200His) rs940287917 0.00013
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) rs148300854 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 0.00012
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092 0.00012
NM_178170.3(NEK8):c.880C>T (p.Arg294Cys) rs146113045 0.00012
NM_198334.3(GANAB):c.920C>G (p.Pro307Arg) rs201801499 0.00012
NM_000297.4(PKD2):c.1092C>T (p.Thr364=) rs149257723 0.00011
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00011
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=) rs372696163 0.00011
NM_001009944.3(PKD1):c.726T>C (p.Phe242=) rs750727364 0.00011
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=) rs757969966 0.00011
NM_003361.4(UMOD):c.1383G>A (p.Ala461=) rs147222401 0.00011
NM_138694.4(PKHD1):c.11175-10T>G rs373424543 0.00011
NM_138694.4(PKHD1):c.11870G>A (p.Arg3957His) rs372357820 0.00011
NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp) rs199858063 0.00011
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His) rs374233100 0.00011
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579 0.00011
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu) rs368467585 0.00011
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp) rs201254195 0.00011
NM_178170.3(NEK8):c.1148G>A (p.Arg383His) rs138066977 0.00011
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys) rs150838063 0.00010
NM_000297.4(PKD2):c.356G>A (p.Arg119His) rs748654180 0.00010
NM_000297.4(PKD2):c.733A>C (p.Asn245His) rs200543024 0.00010
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=) rs990065629 0.00010
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=) rs772143717 0.00010
NM_001009944.3(PKD1):c.7906C>T (p.Arg2636Trp) rs200907085 0.00010
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=) rs142391112 0.00010
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637 0.00010
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268 0.00010
NM_000297.4(PKD2):c.2391A>C (p.Pro797=) rs556777891 0.00009
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) rs201417193 0.00009
NM_001009944.3(PKD1):c.12051G>C (p.Lys4017Asn) rs151044657 0.00009
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr) rs201035636 0.00009
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe) rs543561238 0.00009
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=) rs146915755 0.00009
NM_001009944.3(PKD1):c.5449G>A (p.Val1817Met) rs149713462 0.00009
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_003361.4(UMOD):c.430G>A (p.Asp144Asn) rs769398465 0.00009
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637 0.00009
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val) rs139742511 0.00009
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu) rs780849635 0.00009
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=) rs750130747 0.00009
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe) rs746561147 0.00009
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) rs369932370 0.00009
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln) rs370557603 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His) rs772219802 0.00009
NM_138694.4(PKHD1):c.7285G>A (p.Val2429Ile) rs148284341 0.00009
NM_000297.4(PKD2):c.1717-7C>T rs201267638 0.00008
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala) rs766549097 0.00008
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln) rs62038819 0.00008
NM_001009944.3(PKD1):c.8016+7T>C rs746089639 0.00008
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=) rs1159235832 0.00008
NM_003361.4(UMOD):c.1288G>A (p.Asp430Asn) rs200394184 0.00008
NM_003361.4(UMOD):c.990G>A (p.Glu330=) rs200665026 0.00008
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303 0.00008
NM_138694.4(PKHD1):c.1487G>A (p.Arg496Gln) rs181391485 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.708-5C>T rs371844893 0.00008
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His) rs373643848 0.00008
NM_198334.3(GANAB):c.262G>A (p.Val88Met) rs145841521 0.00008
NM_198334.3(GANAB):c.548C>T (p.Ala183Val) rs921091711 0.00008
NM_198334.3(GANAB):c.926G>A (p.Arg309His) rs144118755 0.00008
NM_000297.4(PKD2):c.2499C>T (p.Gly833=) rs180709531 0.00007
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.11713-3C>T rs754015180 0.00007
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=) rs1344519371 0.00007
NM_001009944.3(PKD1):c.413G>A (p.Arg138Gln) rs2515725 0.00007
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr) rs779342040 0.00007
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys) rs554493059 0.00007
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411 0.00007
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val) rs142608481 0.00007
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=) rs751244001 0.00007
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703 0.00007
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=) rs369801937 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_000297.4(PKD2):c.1654G>C (p.Ala552Pro) rs369908107 0.00006
NM_001009944.3(PKD1):c.5180C>T (p.Pro1727Leu) rs373060372 0.00006
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val) rs769636582 0.00006
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu) rs151308544 0.00006
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val) rs1353004865 0.00006
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys) rs777608163 0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161 0.00006
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys) rs543328728 0.00006
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr) rs776589273 0.00006
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg) rs761871204 0.00006
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro) rs139442289 0.00006
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr) rs373896034 0.00006
NM_138694.4(PKHD1):c.11506+14G>C rs371687822 0.00006
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830 0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) rs560133266 0.00006
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) rs1443176251 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His) rs151160618 0.00006
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly) rs528966196 0.00006
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys) rs751529187 0.00006
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) rs374132086 0.00006
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp) rs371830478 0.00006
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val) rs146962673 0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) rs374869252 0.00006
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) rs200432861 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_138694.4(PKHD1):c.9665A>G (p.His3222Arg) rs777989032 0.00006
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr) rs374175041 0.00006
NM_178170.3(NEK8):c.977G>A (p.Arg326Gln) rs200972000 0.00006
NM_198334.3(GANAB):c.1594-9C>T rs200289173 0.00006
NM_198334.3(GANAB):c.2353C>A (p.His785Asn) rs753910059 0.00006
NM_198334.3(GANAB):c.253G>A (p.Val85Met) rs1033126561 0.00006
NM_198334.3(GANAB):c.381-10T>C rs371678104 0.00006
NM_000297.4(PKD2):c.1927G>A (p.Asp643Asn) rs748354306 0.00005
NM_000297.4(PKD2):c.2491T>C (p.Ser831Pro) rs149728995 0.00005
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=) rs748123570 0.00005
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg) rs1050939771 0.00005
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser) rs752995047 0.00005
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=) rs759043048 0.00005
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096 0.00005
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys) rs781114712 0.00005
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys) rs773857360 0.00005
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser) rs886265852 0.00005
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys) rs531854741 0.00005
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=) rs770635587 0.00005
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg) rs201824369 0.00005
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782 0.00005
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=) rs759939735 0.00005
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp) rs148356158 0.00005
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln) rs557773345 0.00005
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser) rs149293970 0.00005
NM_138694.4(PKHD1):c.5687C>T (p.Thr1896Met) rs140996978 0.00005
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070 0.00005
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met) rs776068047 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His) rs372102850 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_138694.4(PKHD1):c.977-20G>A rs753880972 0.00005
NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp) rs773883764 0.00005
NM_178170.3(NEK8):c.1915A>C (p.Lys639Gln) rs148904248 0.00005
NM_198334.3(GANAB):c.2334C>A (p.Asp778Glu) rs937056702 0.00005
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val) rs201504575 0.00004
NM_000297.4(PKD2):c.2186T>A (p.Leu729Gln) rs569788968 0.00004
NM_000297.4(PKD2):c.2338G>A (p.Asp780Asn) rs773557612 0.00004
NM_000297.4(PKD2):c.2754C>T (p.Ser918=) rs748855749 0.00004
NM_000297.4(PKD2):c.514G>T (p.Asp172Tyr) rs886059698 0.00004
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile) rs754956606 0.00004
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser) rs781492044 0.00004
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys) rs553106581 0.00004
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala) rs1341672915 0.00004
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg) rs776110243 0.00004
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=) rs377661579 0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=) rs142035983 0.00004
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met) rs368161263 0.00004
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala) rs760993331 0.00004
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) rs544092291 0.00004
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro) rs773527738 0.00004
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=) rs556708086 0.00004
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe) rs771932172 0.00004
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys) rs754486194 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys) rs367918229 0.00004
NM_001009944.3(PKD1):c.7767C>T (p.His2589=) rs555499745 0.00004
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val) rs761726794 0.00004
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) rs202086892 0.00004
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=) rs535771951 0.00004
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His) rs1063405 0.00004
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr) rs533152302 0.00004
NM_003361.4(UMOD):c.1362C>A (p.Gly454=) rs770875763 0.00004
NM_003361.4(UMOD):c.685A>T (p.Met229Leu) rs756226236 0.00004
NM_003361.4(UMOD):c.875C>A (p.Ser292Tyr) rs147199402 0.00004
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) rs748863662 0.00004
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His) rs143915416 0.00004
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu) rs545701882 0.00004
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) rs201534300 0.00004
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=) rs754613918 0.00004
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.12107G>A (p.Arg4036Gln) rs201242338 0.00004
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val) rs781286941 0.00004
NM_138694.4(PKHD1):c.1420C>A (p.His474Asn) rs760766190 0.00004
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) rs557361225 0.00004
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln) rs757182803 0.00004
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys) rs199846197 0.00004
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln) rs577541526 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met) rs564240823 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.2538C>T (p.His846=) rs775356491 0.00004
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) rs886042298 0.00004
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe) rs398124482 0.00004
NM_138694.4(PKHD1):c.306G>A (p.Glu102=) rs759126073 0.00004
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) rs201123815 0.00004
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile) rs147035447 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) rs536456650 0.00004
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211 0.00004
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) rs146649894 0.00004
NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met) rs201858937 0.00004
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg) rs1412045164 0.00004
NM_138694.4(PKHD1):c.5958C>T (p.His1986=) rs745388926 0.00004
NM_138694.4(PKHD1):c.630T>G (p.Leu210=) rs950789431 0.00004
NM_138694.4(PKHD1):c.6479A>G (p.Asn2160Ser) rs577306911 0.00004
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) rs375436864 0.00004
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=) rs747038764 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly) rs746000400 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg) rs146550270 0.00004
NM_178170.3(NEK8):c.1771G>A (p.Gly591Arg) rs754159776 0.00004
NM_178170.3(NEK8):c.2000C>T (p.Thr667Met) rs147625932 0.00004
NM_178170.3(NEK8):c.22C>G (p.Arg8Gly) rs199621354 0.00004
NM_178170.3(NEK8):c.801C>T (p.Thr267=) rs754756615 0.00004
NM_198334.3(GANAB):c.2093G>A (p.Arg698Gln) rs765000469 0.00004
NM_198334.3(GANAB):c.2512-13A>G rs376460143 0.00004
NM_000297.4(PKD2):c.2118+19C>T rs777790980 0.00003
NM_001009944.3(PKD1):c.11157-9C>G rs1191413154 0.00003
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile) rs200120839 0.00003
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg) rs760873748 0.00003
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp) rs889547396 0.00003
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser) rs1320256969 0.00003
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_001009944.3(PKD1):c.2396G>A (p.Arg799Gln) rs766489466 0.00003
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp) rs773426104 0.00003
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn) rs773329559 0.00003
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys) rs770755888 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=) rs781761438 0.00003
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) rs1567200098 0.00003
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser) rs552542784 0.00003
NM_001009944.3(PKD1):c.5132C>T (p.Thr1711Ile) rs750076336 0.00003
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr) rs779607937 0.00003
NM_001009944.3(PKD1):c.5645C>T (p.Thr1882Met) rs772716160 0.00003
NM_001009944.3(PKD1):c.5777C>T (p.Ala1926Val) rs754890213 0.00003
NM_001009944.3(PKD1):c.6001C>T (p.Arg2001Trp) rs773069152 0.00003
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu) rs767363184 0.00003
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071 0.00003
NM_001009944.3(PKD1):c.6440G>A (p.Arg2147Gln) rs771035065 0.00003
NM_001009944.3(PKD1):c.6605C>T (p.Ala2202Val) rs764264106 0.00003
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062 0.00003
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val) rs780284563 0.00003
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile) rs201780393 0.00003
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met) rs1459100196 0.00003
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175 0.00003
NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys) rs758221597 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn) rs778583323 0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu) rs775014599 0.00003
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143 0.00003
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg) rs755769277 0.00003
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu) rs758871283 0.00003
NM_138694.4(PKHD1):c.122T>G (p.Ile41Ser) rs886043527 0.00003
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=) rs1252381398 0.00003
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala) rs144526315 0.00003
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) rs727504094 0.00003
NM_138694.4(PKHD1):c.131-16C>T rs1174461021 0.00003
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp) rs139770251 0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294 0.00003
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly) rs145855006 0.00003
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp) rs749170990 0.00003
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met) rs778864835 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=) rs778487042 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=) rs758960742 0.00003
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg) rs780740862 0.00003
NM_138694.4(PKHD1):c.4852A>G (p.Ile1618Val) rs143322944 0.00003
NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys) rs762702777 0.00003
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026 0.00003
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys) rs151108325 0.00003
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr) rs747072396 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn) rs142487082 0.00003
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) rs565528098 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.874A>G (p.Ile292Val) rs367590965 0.00003
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=) rs781630151 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_178170.3(NEK8):c.9G>A (p.Lys3=) rs759474870 0.00003
NM_000297.4(PKD2):c.1250G>A (p.Arg417Gln) rs142261953 0.00002
NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys) rs773998492 0.00002
NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp) rs749112798 0.00002
NM_000297.4(PKD2):c.2314G>A (p.Glu772Lys) rs774525905 0.00002
NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn) rs370489860 0.00002
NM_000297.4(PKD2):c.587G>C (p.Gly196Ala) rs1377684533 0.00002
NM_001009944.3(PKD1):c.11198C>T (p.Pro3733Leu) rs2091644809 0.00002
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys) rs765408067 0.00002
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val) rs775988021 0.00002
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys) rs1085307552 0.00002
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=) rs754575596 0.00002
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys) rs755462601 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.7222C>T (p.Arg2408Cys) rs538769374 0.00002
NM_001009944.3(PKD1):c.747C>T (p.Ser249=) rs568816990 0.00002
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly) rs3874655 0.00002
NM_001009944.3(PKD1):c.8161+4C>T rs766547394 0.00002
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341 0.00002
NM_001009944.3(PKD1):c.8795A>G (p.His2932Arg) rs201524173 0.00002
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189 0.00002
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00002
NM_001009944.3(PKD1):c.9713-17C>G rs766238514 0.00002
NM_003361.4(UMOD):c.1459G>A (p.Val487Met) rs375158769 0.00002
NM_003361.4(UMOD):c.1640G>A (p.Arg547Gln) rs780358900 0.00002
NM_003361.4(UMOD):c.1680C>G (p.Asp560Glu) rs200473249 0.00002
NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile) rs751927256 0.00002
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp) rs760253448 0.00002
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=) rs774349380 0.00002
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=) rs1162292670 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.10514G>A (p.Ser3505Asn) rs200244173 0.00002
NM_138694.4(PKHD1):c.108G>A (p.Thr36=) rs779123303 0.00002
NM_138694.4(PKHD1):c.11539G>T (p.Ala3847Ser) rs769135174 0.00002
NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile) rs773044015 0.00002
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=) rs1268794606 0.00002
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=) rs886043022 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=) rs140920157 0.00002
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp) rs769143280 0.00002
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val) rs979700489 0.00002
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val) rs774570785 0.00002
NM_138694.4(PKHD1):c.3604G>A (p.Glu1202Lys) rs554956088 0.00002
NM_138694.4(PKHD1):c.3629-16C>T rs776260404 0.00002
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro) rs199643308 0.00002
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00002
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.6266C>T (p.Pro2089Leu) rs376477480 0.00002
NM_138694.4(PKHD1):c.668-3C>T rs775002568 0.00002
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val) rs755286726 0.00002
NM_138694.4(PKHD1):c.6996+5G>A rs1232218253 0.00002
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn) rs749431123 0.00002
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=) rs753436694 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503 0.00002
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val) rs762313489 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp) rs757650951 0.00002
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881 0.00002
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=) rs200466480 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_138694.4(PKHD1):c.9282C>T (p.Asn3094=) rs113402912 0.00002
NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys) rs763499782 0.00002
NM_178170.3(NEK8):c.1793G>A (p.Arg598His) rs771392691 0.00002
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter) rs752792782 0.00002
NM_178170.3(NEK8):c.889+1G>T rs780247729 0.00002
NM_198334.3(GANAB):c.323C>T (p.Pro108Leu) rs200232092 0.00002
NM_198334.3(GANAB):c.560+469C>T rs777394229 0.00002
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1094+1G>A rs58606740 0.00001
NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr) rs144431856 0.00001
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu) rs1408612463 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.145C>T (p.Gln49Ter) rs1057518906 0.00001
NM_000297.4(PKD2):c.170A>G (p.Gln57Arg) rs1175705856 0.00001
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg) rs181037821 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2162C>G (p.Thr721Ser) rs751589219 0.00001
NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser) rs747895445 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter) rs1276594505 0.00001
NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn) rs761597786 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
NM_000297.4(PKD2):c.251G>A (p.Arg84Gln) rs1326556150 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.2585C>T (p.Ala862Val) rs767919784 0.00001
NM_000297.4(PKD2):c.2743C>T (p.Arg915Cys) rs1215199829 0.00001
NM_000297.4(PKD2):c.2762C>T (p.Ala921Val) rs545898956 0.00001
NM_000297.4(PKD2):c.2837C>T (p.Pro946Leu) rs370039125 0.00001
NM_000297.4(PKD2):c.485C>T (p.Pro162Leu) rs1034653764 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_000297.4(PKD2):c.710-10T>G rs1727324181 0.00001
NM_000297.4(PKD2):c.710-11C>A rs764334983 0.00001
NM_000297.4(PKD2):c.724A>G (p.Met242Val) rs748163182 0.00001
NM_000297.4(PKD2):c.783C>T (p.Pro261=) rs766343471 0.00001
NM_000297.4(PKD2):c.914A>G (p.Asn305Ser) rs1727416682 0.00001
NM_000297.4(PKD2):c.95G>A (p.Gly32Asp) rs1393526656 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys) rs1287231217 0.00001
NM_001009944.3(PKD1):c.10050+10G>C rs746704728 0.00001
NM_001009944.3(PKD1):c.10481C>T (p.Thr3494Met) rs752503970 0.00001
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs) rs2091618729 0.00001
NM_001009944.3(PKD1):c.11942C>T (p.Ala3981Val) rs1424119004 0.00001
NM_001009944.3(PKD1):c.1207C>T (p.His403Tyr) rs999510631 0.00001
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser) rs1363663761 0.00001
NM_001009944.3(PKD1):c.12526C>T (p.Pro4176Ser) rs755976712 0.00001
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro) rs1230641065 0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031 0.00001
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile) rs928084406 0.00001
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val) rs1393997103 0.00001
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp) rs751946869 0.00001
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly) rs751293870 0.00001
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser) rs1474271392 0.00001
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=) rs776410570 0.00001
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter) rs1183899324 0.00001
NM_001009944.3(PKD1):c.4664C>T (p.Ala1555Val) rs758865304 0.00001
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met) rs2575314 0.00001
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro) rs541777274 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr) rs374424212 0.00001
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207 0.00001
NM_001009944.3(PKD1):c.5203A>T (p.Ser1735Cys) rs1064796417 0.00001
NM_001009944.3(PKD1):c.5284A>G (p.Thr1762Ala) rs369625462 0.00001
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001009944.3(PKD1):c.6356A>G (p.Asp2119Gly) rs755560531 0.00001
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val) rs368987928 0.00001
NM_001009944.3(PKD1):c.6446C>T (p.Pro2149Leu) rs982097679 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr) rs749515571 0.00001
NM_001009944.3(PKD1):c.6771G>A (p.Val2257=) rs770172913 0.00001
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met) rs758620810 0.00001
NM_001009944.3(PKD1):c.709C>G (p.Pro237Ala) rs1350910449 0.00001
NM_001009944.3(PKD1):c.7775C>T (p.Thr2592Ile) rs1458197743 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile) rs566531762 0.00001
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=) rs377029031 0.00001
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu) rs760592410 0.00001
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.8688C>T (p.Ser2896=) rs548736542 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp) rs1384099162 0.00001
NM_001009944.3(PKD1):c.9679G>A (p.Gly3227Arg) rs1459262773 0.00001
NM_001009944.3(PKD1):c.9688G>C (p.Val3230Leu) rs747054731 0.00001
NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys) rs757771138 0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333 0.00001
NM_001009944.3(PKD1):c.9885C>T (p.Asn3295=) rs764028566 0.00001
NM_003361.4(UMOD):c.1123C>T (p.Arg375Trp) rs373609971 0.00001
NM_003361.4(UMOD):c.1390C>T (p.Gln464Ter) rs373412017 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=) rs375770253 0.00001
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=) rs562160590 0.00001
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637 0.00001
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612 0.00001
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162 0.00001
NM_138694.4(PKHD1):c.11101G>A (p.Val3701Ile) rs979287276 0.00001
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=) rs758082610 0.00001
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) rs1206336265 0.00001
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln) rs775097870 0.00001
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs) rs747170980 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.1187G>A (p.Ser396Asn) rs772507975 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys) rs531466080 0.00001
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg) rs778545068 0.00001
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=) rs757125119 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 0.00001
NM_138694.4(PKHD1):c.1425C>T (p.Asn475=) rs200745148 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter) rs759322460 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.1694-2A>G rs1807619777 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.1917A>T (p.Val639=) rs1192699542 0.00001
NM_138694.4(PKHD1):c.193G>A (p.Val65Met) rs749853418 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651 0.00001
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=) rs769144028 0.00001
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) rs377415956 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2275G>A (p.Ala759Thr) rs550730673 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.2280-4A>T rs549804372 0.00001
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs) rs767737392 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.2377C>T (p.Arg793Cys) rs779653146 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val) rs546401927 0.00001
NM_138694.4(PKHD1):c.2593-10A>G rs1050450962 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met) rs530600526 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln) rs899785229 0.00001
NM_138694.4(PKHD1):c.3119G>A (p.Arg1040Gln) rs751832041 0.00001
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088 0.00001
NM_138694.4(PKHD1):c.3229-7T>G rs780401384 0.00001
NM_138694.4(PKHD1):c.3259G>C (p.Val1087Leu) rs372422063 0.00001
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr) rs772369540 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780 0.00001
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713 0.00001
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443 0.00001
NM_138694.4(PKHD1):c.3547A>G (p.Ile1183Val) rs746874144 0.00001
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) rs727504096 0.00001
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln) rs764940559 0.00001
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=) rs150985194 0.00001
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val) rs112182862 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg) rs759930967 0.00001
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) rs771702541 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.4403T>C (p.Leu1468Pro) rs140331370 0.00001
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter) rs1350620976 0.00001
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met) rs1370869109 0.00001
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr) rs375437755 0.00001
NM_138694.4(PKHD1):c.4876A>G (p.Ile1626Val) rs770183868 0.00001
NM_138694.4(PKHD1):c.4918G>A (p.Val1640Ile) rs1396314967 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=) rs747933439 0.00001
NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser) rs746705122 0.00001
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=) rs556583531 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674 0.00001
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=) rs1241103975 0.00001
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=) rs1355951747 0.00001
NM_138694.4(PKHD1):c.56G>A (p.Arg19His) rs1375765328 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=) rs1167596697 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00001
NM_138694.4(PKHD1):c.6130C>T (p.Pro2044Ser) rs777570978 0.00001
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala) rs1283289447 0.00001
NM_138694.4(PKHD1):c.6187G>A (p.Ala2063Thr) rs772835579 0.00001
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014 0.00001
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958 0.00001
NM_138694.4(PKHD1):c.657C>T (p.Gly219=) rs189345248 0.00001
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr) rs1376315113 0.00001
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr) rs1459248210 0.00001
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=) rs1315333212 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val) rs748865599 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=) rs771622189 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met) rs201173272 0.00001
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly) rs747117144 0.00001
NM_138694.4(PKHD1):c.7414A>G (p.Thr2472Ala) rs137972951 0.00001
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe) rs202008567 0.00001
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=) rs746499996 0.00001
NM_138694.4(PKHD1):c.7619T>C (p.Leu2540Pro) rs761681284 0.00001
NM_138694.4(PKHD1):c.7658A>G (p.Asn2553Ser) rs576001667 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu) rs776654447 0.00001
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln) rs778592523 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly) rs775472136 0.00001
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg) rs1185197350 0.00001
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp) rs754533251 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=) rs756431455 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu) rs746096431 0.00001
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro) rs776157924 0.00001
NM_138694.4(PKHD1):c.8491A>G (p.Arg2831Gly) rs767914998 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs) rs779168950 0.00001
NM_138694.4(PKHD1):c.868G>A (p.Val290Ile) rs773123823 0.00001
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr) rs193185189 0.00001
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=) rs1418482955 0.00001
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val) rs773010322 0.00001
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile) rs768138709 0.00001
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu) rs141912421 0.00001
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=) rs764734730 0.00001
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) rs769571577 0.00001
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly) rs1477456222 0.00001
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys) rs957419550 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser) rs1179113718 0.00001
NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu) rs199853008 0.00001
NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?) rs746234904 0.00001
NM_178170.3(NEK8):c.673G>C (p.Asp225His) rs1403766728 0.00001
NM_198334.3(GANAB):c.2177T>C (p.Met726Thr) rs772357517 0.00001
NM_198334.3(GANAB):c.2398-12C>T rs751405998 0.00001
NM_198334.3(GANAB):c.415G>A (p.Glu139Lys) rs1033886387 0.00001
GRCh37/hg19 16p13.3(chr16:2089795-2185919)
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) rs2110107236
NM_000297.4(PKD2):c.103_104delinsAA (p.Ala35Asn) rs1726226920
NM_000297.4(PKD2):c.1047T>G (p.Ser349=)
NM_000297.4(PKD2):c.1047dup (p.Val350fs) rs1578130597
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys) rs375164861
NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly) rs1560608801
NM_000297.4(PKD2):c.1087G>T (p.Gly363Ter)
NM_000297.4(PKD2):c.1094+1G>T
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1094+9C>A
NM_000297.4(PKD2):c.1098del (p.Ala365_Trp366insTer)
NM_000297.4(PKD2):c.109G>A (p.Gly37Ser) rs1007960523
NM_000297.4(PKD2):c.110del (p.Gly37fs) rs2110080128
NM_000297.4(PKD2):c.1128TAG[1] (p.Ser378del)
NM_000297.4(PKD2):c.1130G>A (p.Ser377Asn)
NM_000297.4(PKD2):c.1133G>A (p.Ser378Asn)
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter) rs121918039
NM_000297.4(PKD2):c.113_127delinsGCCT (p.Ala38fs)
NM_000297.4(PKD2):c.1142G>A (p.Gly381Glu)
NM_000297.4(PKD2):c.1144A>C (p.Ile382Leu)
NM_000297.4(PKD2):c.1146C>A (p.Ile382=) rs1351905972
NM_000297.4(PKD2):c.1154C>G (p.Thr385Ser)
NM_000297.4(PKD2):c.1169del (p.Gly390fs)
NM_000297.4(PKD2):c.1172A>G (p.Tyr391Cys)
NM_000297.4(PKD2):c.1175A>T (p.Tyr392Phe)
NM_000297.4(PKD2):c.1241G>T (p.Trp414Leu)
NM_000297.4(PKD2):c.1242G>A (p.Trp414Ter)
NM_000297.4(PKD2):c.1252G>T (p.Gly418Ter)
NM_000297.4(PKD2):c.1261G>A (p.Ala421Thr) rs748280556
NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser) rs748280556
NM_000297.4(PKD2):c.1295A>G (p.Asn432Ser)
NM_000297.4(PKD2):c.1317del (p.Arg440fs)
NM_000297.4(PKD2):c.1320-2A>C
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1326G>T (p.Leu442Phe)
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg) rs1727783547
NM_000297.4(PKD2):c.1346G>A (p.Gly449Asp) rs1131408
NM_000297.4(PKD2):c.1349G>T (p.Gly450Val)
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter) rs1578135870
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1399A>G (p.Thr467Ala)
NM_000297.4(PKD2):c.1417del (p.Leu473fs)
NM_000297.4(PKD2):c.1436T>A (p.Ile479Asn)
NM_000297.4(PKD2):c.1445del (p.Phe482fs) rs1578135940
NM_000297.4(PKD2):c.1452C>G (p.Ile484Met)
NM_000297.4(PKD2):c.1486C>T (p.Arg496Cys) rs977431912
NM_000297.4(PKD2):c.1501C>T (p.His501Tyr)
NM_000297.4(PKD2):c.1523A>G (p.Asn508Ser)
NM_000297.4(PKD2):c.152G>A (p.Gly51Asp)
NM_000297.4(PKD2):c.1543G>A (p.Val515Ile)
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1548+3A>G
NM_000297.4(PKD2):c.1549-1G>A rs1720121027
NM_000297.4(PKD2):c.1549-2A>T
NM_000297.4(PKD2):c.1549-5T>C
NM_000297.4(PKD2):c.1567G>A (p.Gly523Arg)
NM_000297.4(PKD2):c.1573A>C (p.Asn525His) rs1720121916
NM_000297.4(PKD2):c.1580A>G (p.Tyr527Cys)
NM_000297.4(PKD2):c.1586C>T (p.Thr529Ile)
NM_000297.4(PKD2):c.1602_1605dup (p.Leu536fs)
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) rs1720124087
NM_000297.4(PKD2):c.1617G>A (p.Leu539=) rs145297759
NM_000297.4(PKD2):c.163G>A (p.Glu55Lys)
NM_000297.4(PKD2):c.1641C>A (p.Asn547Lys)
NM_000297.4(PKD2):c.1657T>C (p.Tyr553His)
NM_000297.4(PKD2):c.165G>C (p.Glu55Asp)
NM_000297.4(PKD2):c.1668dup (p.Gln557fs) rs1578139269
NM_000297.4(PKD2):c.1705G>T (p.Val569Phe)
NM_000297.4(PKD2):c.1709G>A (p.Trp570Ter)
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu) rs1720129428
NM_000297.4(PKD2):c.1716+1G>A
NM_000297.4(PKD2):c.1716+2T>A rs1720129561
NM_000297.4(PKD2):c.1717-3C>G
NM_000297.4(PKD2):c.1753C>T (p.Gln585Ter)
NM_000297.4(PKD2):c.1760C>A (p.Ser587Ter)
NM_000297.4(PKD2):c.1760C>T (p.Ser587Leu)
NM_000297.4(PKD2):c.1770G>A (p.Met590Ile)
NM_000297.4(PKD2):c.17G>T (p.Arg6Leu)
NM_000297.4(PKD2):c.1804_1805dup (p.Met603fs)
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del) rs1720323681
NM_000297.4(PKD2):c.1816A>G (p.Ile606Val)
NM_000297.4(PKD2):c.1816A>T (p.Ile606Phe) rs755666887
NM_000297.4(PKD2):c.1820T>C (p.Ile607Thr)
NM_000297.4(PKD2):c.182_206dup (p.Ala71fs)
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1913G>A (p.Arg638His)
NM_000297.4(PKD2):c.1935_1938delinsGAGATTTGGGCGATA (p.Asn645fs)
NM_000297.4(PKD2):c.193dup (p.Arg65fs)
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter) rs146396414
NM_000297.4(PKD2):c.1963G>A (p.Val655Ile)
NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp) rs138476749
NM_000297.4(PKD2):c.1970G>A (p.Gly657Glu)
NM_000297.4(PKD2):c.1982del (p.Phe661fs)
NM_000297.4(PKD2):c.1984A>C (p.Thr662Pro)
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile) rs1720430638
NM_000297.4(PKD2):c.2001_2009del (p.Met668_Phe670del)
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2019+1G>C
NM_000297.4(PKD2):c.2019+9A>G
NM_000297.4(PKD2):c.2019G>A (p.Leu673=)
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2020-2A>G
NM_000297.4(PKD2):c.2020-5A>G rs2110133917
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.2042A>G (p.Asn681Ser)
NM_000297.4(PKD2):c.2074del (p.Ala692fs)
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter)
NM_000297.4(PKD2):c.2115_2118del (p.Lys706fs)
NM_000297.4(PKD2):c.2119-1G>T
NM_000297.4(PKD2):c.212C>T (p.Ala71Val)
NM_000297.4(PKD2):c.2140A>G (p.Lys714Glu)
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile) rs943891159
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu) rs529945469
NM_000297.4(PKD2):c.2178dup (p.Glu727fs)
NM_000297.4(PKD2):c.2182_2183del (p.Leu729fs)
NM_000297.4(PKD2):c.2184T>A (p.Ser728Arg)
NM_000297.4(PKD2):c.218C>T (p.Ala73Val)
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser) rs868519938
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2218G>A (p.Glu740Lys)
NM_000297.4(PKD2):c.2227C>T (p.Gln743Ter)
NM_000297.4(PKD2):c.2228A>G (p.Gln743Arg)
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2241-2A>G rs1560626499
NM_000297.4(PKD2):c.2241-2_2241-1insTT
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter) rs1578147448
NM_000297.4(PKD2):c.2247_2248insA (p.His750fs)
NM_000297.4(PKD2):c.2258C>A (p.Ala753Glu)
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2305G>A (p.Glu769Lys)
NM_000297.4(PKD2):c.2318A>G (p.His773Arg) rs748554287
NM_000297.4(PKD2):c.2342_2343del (p.Asp781fs)
NM_000297.4(PKD2):c.2343C>A (p.Asp781Glu)
NM_000297.4(PKD2):c.2356_2357del (p.Arg786fs)
NM_000297.4(PKD2):c.2356_2357dup (p.Glu787fs)
NM_000297.4(PKD2):c.2358+1G>A
NM_000297.4(PKD2):c.2358+4G>T
NM_000297.4(PKD2):c.2358+5G>A rs1720774022
NM_000297.4(PKD2):c.235C>T (p.Leu79Phe) rs1726235229
NM_000297.4(PKD2):c.2369A>G (p.Asp790Gly)
NM_000297.4(PKD2):c.2384del (p.Ser795fs)
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.242C>A (p.Ser81Ter)
NM_000297.4(PKD2):c.2444A>G (p.Asp815Gly)
NM_000297.4(PKD2):c.2476del (p.Arg826fs)
NM_000297.4(PKD2):c.2494A>G (p.Ser832Gly)
NM_000297.4(PKD2):c.2498G>A (p.Gly833Asp)
NM_000297.4(PKD2):c.2498del (p.Gly833fs)
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
NM_000297.4(PKD2):c.2503T>C (p.Ser835Pro)
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2522+1G>A
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) rs1560632930
NM_000297.4(PKD2):c.252_253delinsAT (p.Gln85Ter)
NM_000297.4(PKD2):c.2534G>A (p.Arg845Gln)
NM_000297.4(PKD2):c.2543G>C (p.Arg848Pro)
NM_000297.4(PKD2):c.2549del (p.Glu850fs)
NM_000297.4(PKD2):c.2563A>G (p.Ser855Gly)
NM_000297.4(PKD2):c.2573C>G (p.Ser858Cys)
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro) rs1578153598
NM_000297.4(PKD2):c.2614C>G (p.Arg872Gly) rs755226061
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.261G>A (p.Trp87Ter) rs1578111345
NM_000297.4(PKD2):c.2638del (p.Val880fs)
NM_000297.4(PKD2):c.2662del (p.Val888fs)
NM_000297.4(PKD2):c.2670+3del
NM_000297.4(PKD2):c.2670+5G>A
NM_000297.4(PKD2):c.2671-2A>G
NM_000297.4(PKD2):c.26C>G (p.Pro9Arg)
NM_000297.4(PKD2):c.2728C>T (p.Arg910Cys) rs377398357
NM_000297.4(PKD2):c.2729G>A (p.Arg910His)
NM_000297.4(PKD2):c.2773A>T (p.Ile925Phe) rs888130252
NM_000297.4(PKD2):c.2798T>C (p.Val933Ala)
NM_000297.4(PKD2):c.2819G>A (p.Arg940His) rs756158263
NM_000297.4(PKD2):c.2825G>A (p.Arg942Lys)
NM_000297.4(PKD2):c.2833C>T (p.Arg945Cys)
NM_000297.4(PKD2):c.2834G>A (p.Arg945His)
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe) rs749666891
NM_000297.4(PKD2):c.2849A>G (p.Gln950Arg)
NM_000297.4(PKD2):c.289G>A (p.Glu97Lys)
NM_000297.4(PKD2):c.290AGG[3] (p.Glu100_Glu102del)
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.290AGG[8] (p.Glu102_Val103insGluGlu)
NM_000297.4(PKD2):c.31C>T (p.Gln11Ter)
NM_000297.4(PKD2):c.339del (p.Met114fs)
NM_000297.4(PKD2):c.41del (p.Asp14fs) rs1474473957
NM_000297.4(PKD2):c.423dup (p.Gly142fs) rs1726246959
NM_000297.4(PKD2):c.428G>A (p.Gly143Asp)
NM_000297.4(PKD2):c.440C>T (p.Ala147Val)
NM_000297.4(PKD2):c.449C>T (p.Pro150Leu)
NM_000297.4(PKD2):c.455G>A (p.Gly152Glu)
NM_000297.4(PKD2):c.468_486dup (p.Pro163fs)
NM_000297.4(PKD2):c.473del (p.Glu158fs) rs1578111620
NM_000297.4(PKD2):c.478C>T (p.Gln160Ter)
NM_000297.4(PKD2):c.498_511del (p.Ser166fs)
NM_000297.4(PKD2):c.503delinsGGG (p.Val168fs)
NM_000297.4(PKD2):c.505G>C (p.Gly169Arg)
NM_000297.4(PKD2):c.514del (p.Asp172fs) rs1232369409
NM_000297.4(PKD2):c.518C>T (p.Pro173Leu)
NM_000297.4(PKD2):c.531C>A (p.His177Gln)
NM_000297.4(PKD2):c.538C>G (p.Leu180Val)
NM_000297.4(PKD2):c.542A>C (p.Glu181Ala)
NM_000297.4(PKD2):c.547C>T (p.Gln183Ter)
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter) rs1726258048
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter) rs1163840810
NM_000297.4(PKD2):c.57del (p.Ala20fs)
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser) rs1726264964
NM_000297.4(PKD2):c.619G>T (p.Glu207Ter)
NM_000297.4(PKD2):c.61C>T (p.Pro21Ser)
NM_000297.4(PKD2):c.635_647del (p.Asn212fs)
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) rs2110089248
NM_000297.4(PKD2):c.643A>T (p.Lys215Ter)
NM_000297.4(PKD2):c.648C>A (p.Tyr216Ter)
NM_000297.4(PKD2):c.658G>C (p.Val220Leu)
NM_000297.4(PKD2):c.65G>A (p.Arg22His)
NM_000297.4(PKD2):c.664C>T (p.Arg222Trp)
NM_000297.4(PKD2):c.665G>A (p.Arg222Gln)
NM_000297.4(PKD2):c.690del (p.Leu231fs)
NM_000297.4(PKD2):c.695_696del (p.Ile232fs)
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000297.4(PKD2):c.710-5T>C
NM_000297.4(PKD2):c.715_718dup (p.Gly240fs)
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter) rs1578129049
NM_000297.4(PKD2):c.761C>A (p.Ser254Ter)
NM_000297.4(PKD2):c.776A>C (p.Asp259Ala) rs768028361
NM_000297.4(PKD2):c.779C>A (p.Thr260Asn)
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.817_818del (p.Leu273fs) rs1057518969
NM_000297.4(PKD2):c.826A>G (p.Met276Val)
NM_000297.4(PKD2):c.843+1G>A rs1727333593
NM_000297.4(PKD2):c.843+1G>T
NM_000297.4(PKD2):c.843G>A (p.Lys281=) rs1727333486
NM_000297.4(PKD2):c.844-1G>A
NM_000297.4(PKD2):c.848C>T (p.Thr283Ile)
NM_000297.4(PKD2):c.857C>T (p.Ser286Phe)
NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys) rs1560608538
NM_000297.4(PKD2):c.876C>G (p.Tyr292Ter)
NM_000297.4(PKD2):c.892A>G (p.Ser298Gly)
NM_000297.4(PKD2):c.898C>G (p.Gln300Glu)
NM_000297.4(PKD2):c.89T>A (p.Met30Lys)
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
NM_000297.4(PKD2):c.916C>G (p.Arg306Gly) rs200001068
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.923del (p.Phe308fs)
NM_000297.4(PKD2):c.940C>G (p.Leu314Val)
NM_000297.4(PKD2):c.947T>A (p.Leu316Ter)
NM_000297.4(PKD2):c.950G>A (p.Gly317Glu) rs2110107072
NM_000297.4(PKD2):c.952dup (p.Val318fs) rs2110107069
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000297.4(PKD2):c.959G>A (p.Arg320Gln)
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_000297.4(PKD2):c.992G>A (p.Cys331Tyr) rs1578130536
NM_000297.4(PKD2):c.998del (p.Ile333fs)
NM_001009944.3(PKD1):c.10032C>T (p.Phe3344=)
NM_001009944.3(PKD1):c.10034G>A (p.Arg3345Gln)
NM_001009944.3(PKD1):c.1004C>T (p.Ala335Val)
NM_001009944.3(PKD1):c.10051-10C>A rs3874642
NM_001009944.3(PKD1):c.10051-2A>G
NM_001009944.3(PKD1):c.10051-3C>G
NM_001009944.3(PKD1):c.10054G>A (p.Ala3352Thr)
NM_001009944.3(PKD1):c.10057G>A (p.Gly3353Arg)
NM_001009944.3(PKD1):c.10064C>T (p.Pro3355Leu)
NM_001009944.3(PKD1):c.10076del (p.Pro3359fs)
NM_001009944.3(PKD1):c.10082G>A (p.Gly3361Glu)
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) rs1567166045
NM_001009944.3(PKD1):c.10085A>G (p.Gln3362Arg)
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs) rs1567165997
NM_001009944.3(PKD1):c.10098C>G (p.Asp3366Glu)
NM_001009944.3(PKD1):c.10123G>A (p.Val3375Met)
NM_001009944.3(PKD1):c.10128G>A (p.Leu3376=)
NM_001009944.3(PKD1):c.10136C>T (p.Ser3379Phe)
NM_001009944.3(PKD1):c.10149C>T (p.Phe3383=)
NM_001009944.3(PKD1):c.10168-12_10168-11del
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter) rs2151728536
NM_001009944.3(PKD1):c.10168_10170del
NM_001009944.3(PKD1):c.10183C>T (p.Gln3395Ter)
NM_001009944.3(PKD1):c.10220+1G>C
NM_001009944.3(PKD1):c.10220+4G>C
NM_001009944.3(PKD1):c.10221-3C>T
NM_001009944.3(PKD1):c.10233del (p.Trp3411fs) rs1596501760
NM_001009944.3(PKD1):c.10234C>A (p.Pro3412Thr)
NM_001009944.3(PKD1):c.10238C>T (p.Ser3413Phe)
NM_001009944.3(PKD1):c.10248A>T (p.Gly3416=)
NM_001009944.3(PKD1):c.10249A>G (p.Thr3417Ala)
NM_001009944.3(PKD1):c.10249delinsGTT (p.Thr3417fs)
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter) rs2151727019
NM_001009944.3(PKD1):c.10273A>G (p.Ser3425Gly)
NM_001009944.3(PKD1):c.10280_10289del (p.Pro3427fs)
NM_001009944.3(PKD1):c.1028C>T (p.Ser343Leu)
NM_001009944.3(PKD1):c.10290G>A (p.Val3430=)
NM_001009944.3(PKD1):c.10292del (p.Gly3431fs)
NM_001009944.3(PKD1):c.102del (p.Glu34fs)
NM_001009944.3(PKD1):c.10348G>A (p.Glu3450Lys)
NM_001009944.3(PKD1):c.10350G>C (p.Glu3450Asp)
NM_001009944.3(PKD1):c.10354G>T (p.Gly3452Cys)
NM_001009944.3(PKD1):c.10366G>A (p.Ala3456Thr)
NM_001009944.3(PKD1):c.10373C>T (p.Pro3458Leu)
NM_001009944.3(PKD1):c.10391C>T (p.Ser3464Phe)
NM_001009944.3(PKD1):c.10395C>T (p.Phe3465=)
NM_001009944.3(PKD1):c.10397C>G (p.Ser3466Ter)
NM_001009944.3(PKD1):c.103_104delinsA (p.Pro35fs)
NM_001009944.3(PKD1):c.10405+9G>A
NM_001009944.3(PKD1):c.10405G>A (p.Asp3469Asn)
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile) rs776616291
NM_001009944.3(PKD1):c.10433C>T (p.Ala3478Val)
NM_001009944.3(PKD1):c.10441G>T (p.Val3481Phe)
NM_001009944.3(PKD1):c.10447A>G (p.Ser3483Gly)
NM_001009944.3(PKD1):c.10450C>G (p.Pro3484Ala)
NM_001009944.3(PKD1):c.10451C>G (p.Pro3484Arg)
NM_001009944.3(PKD1):c.10453G>T (p.Ala3485Ser)
NM_001009944.3(PKD1):c.10454C>T (p.Ala3485Val)
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs) rs2091883381
NM_001009944.3(PKD1):c.10472A>G (p.His3491Arg)
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg) rs752503970
NM_001009944.3(PKD1):c.1048G>A (p.Val350Met)
NM_001009944.3(PKD1):c.10510C>T (p.Pro3504Ser)
NM_001009944.3(PKD1):c.10511C>T (p.Pro3504Leu)
NM_001009944.3(PKD1):c.10513G>T (p.Gly3505Trp)
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) rs2151710519
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) rs1378307448
NM_001009944.3(PKD1):c.10550_10551insCCA (p.Gly3517_Glu3518insGln)
NM_001009944.3(PKD1):c.10552G>T (p.Glu3518Ter)
NM_001009944.3(PKD1):c.10552del (p.Glu3518fs)
NM_001009944.3(PKD1):c.10570C>T (p.Pro3524Ser)
NM_001009944.3(PKD1):c.10571C>T (p.Pro3524Leu)
NM_001009944.3(PKD1):c.10576C>G (p.Leu3526Val)
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=) rs745763060
NM_001009944.3(PKD1):c.1057G>T (p.Glu353Ter)
NM_001009944.3(PKD1):c.10598_10614del (p.Ala3533fs)
NM_001009944.3(PKD1):c.10619-13del rs562614426
NM_001009944.3(PKD1):c.10622dup (p.Val3542fs)
NM_001009944.3(PKD1):c.10626G>A (p.Val3542=)
NM_001009944.3(PKD1):c.10636C>T (p.Arg3546Trp)
NM_001009944.3(PKD1):c.10642C>T (p.Arg3548Cys)
NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu)
NM_001009944.3(PKD1):c.10652_10662del (p.Pro3551fs)
NM_001009944.3(PKD1):c.10653_10665dup (p.Ser3556fs)
NM_001009944.3(PKD1):c.10657T>C (p.Trp3553Arg)
NM_001009944.3(PKD1):c.10659G>C (p.Trp3553Cys)
NM_001009944.3(PKD1):c.10669del (p.Leu3557fs)
NM_001009944.3(PKD1):c.1067C>T (p.Pro356Leu)
NM_001009944.3(PKD1):c.10680del (p.Leu3561fs)
NM_001009944.3(PKD1):c.10691_10692del (p.Leu3564fs)
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.1069_1072delinsACCA (p.Ala357_Ala358delinsThrThr)
NM_001009944.3(PKD1):c.10708G>A (p.Val3570Met)
NM_001009944.3(PKD1):c.10709_10710del (p.Val3570fs)
NM_001009944.3(PKD1):c.10712C>G (p.Ala3571Gly)
NM_001009944.3(PKD1):c.10723dup (p.Trp3575fs)
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter) rs1361283193
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter) rs1177764199
NM_001009944.3(PKD1):c.10739_10740dup (p.Pro3581fs)
NM_001009944.3(PKD1):c.1073C>T (p.Ala358Val)
NM_001009944.3(PKD1):c.10742C>T (p.Pro3581Leu)
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.10747G>A (p.Gly3583Ser)
NM_001009944.3(PKD1):c.10751dup (p.Ser3585fs)
NM_001009944.3(PKD1):c.10759dup (p.Ala3587fs)
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe) rs2091723749
NM_001009944.3(PKD1):c.10776C>G (p.Ser3592Arg)
NM_001009944.3(PKD1):c.10778G>C (p.Ser3593Thr)
NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu)
NM_001009944.3(PKD1):c.10804G>C (p.Gly3602Arg)
NM_001009944.3(PKD1):c.10814C>T (p.Pro3605Leu)
NM_001009944.3(PKD1):c.10834G>A (p.Ala3612Thr)
NM_001009944.3(PKD1):c.10842C>A (p.Tyr3614Ter)
NM_001009944.3(PKD1):c.10849C>G (p.Leu3617Val)
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met) rs1428207672
NM_001009944.3(PKD1):c.10871C>T (p.Pro3624Leu)
NM_001009944.3(PKD1):c.10880A>G (p.Asp3627Gly)
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.108dup (p.Cys37fs)
NM_001009944.3(PKD1):c.10904C>A (p.Ala3635Asp)
NM_001009944.3(PKD1):c.1091dup (p.Ser365fs)
NM_001009944.3(PKD1):c.10921G>A (p.Ala3641Thr)
NM_001009944.3(PKD1):c.10934G>A (p.Arg3645His)
NM_001009944.3(PKD1):c.10940G>A (p.Arg3647Gln) rs1415072762
NM_001009944.3(PKD1):c.10948C>A (p.His3650Asn)
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val)
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs)
NM_001009944.3(PKD1):c.10974G>T (p.Lys3658Asn)
NM_001009944.3(PKD1):c.1097C>T (p.Ser366Leu)
NM_001009944.3(PKD1):c.10984C>T (p.Arg3662Cys)
NM_001009944.3(PKD1):c.10993_10994del (p.Lys3665fs)
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11002C>T (p.His3668Tyr)
NM_001009944.3(PKD1):c.11004T>A (p.His3668Gln)
NM_001009944.3(PKD1):c.11005G>C (p.Gly3669Arg)
NM_001009944.3(PKD1):c.11007C>T (p.Gly3669=)
NM_001009944.3(PKD1):c.11016+1G>C
NM_001009944.3(PKD1):c.11016+7C>G
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11017-12C>G
NM_001009944.3(PKD1):c.11017-1G>C
NM_001009944.3(PKD1):c.11032A>G (p.Met3678Val)
NM_001009944.3(PKD1):c.11035C>G (p.Leu3679Val)
NM_001009944.3(PKD1):c.1105_1106del (p.Gln368_Ser369insTer)
NM_001009944.3(PKD1):c.11071_11088dup (p.Gly3696_His3697insAspAlaSerCysHisGly)
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs) rs2091670117
NM_001009944.3(PKD1):c.11082C>G (p.Cys3694Trp)
NM_001009944.3(PKD1):c.11088del (p.His3697fs)
NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys)
NM_001009944.3(PKD1):c.11099G>T (p.Arg3700Leu)
NM_001009944.3(PKD1):c.1111G>T (p.Glu371Ter)
NM_001009944.3(PKD1):c.11122_11156+1del
NM_001009944.3(PKD1):c.11123A>C (p.Glu3708Ala)
NM_001009944.3(PKD1):c.11144T>G (p.Leu3715Arg)
NM_001009944.3(PKD1):c.11156+1G>T rs1596485727
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala) rs780574700
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
NM_001009944.3(PKD1):c.11188G>A (p.Val3730Met)
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs) rs1567155179
NM_001009944.3(PKD1):c.11201A>G (p.Tyr3734Cys)
NM_001009944.3(PKD1):c.11209_11210inv (p.Gly3737Pro)
NM_001009944.3(PKD1):c.11239C>T (p.Pro3747Ser)
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) rs546924823
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11269+3G>C
NM_001009944.3(PKD1):c.11269+6C>T
NM_001009944.3(PKD1):c.11270-1G>T
NM_001009944.3(PKD1):c.11270-6T>G
NM_001009944.3(PKD1):c.11275T>C (p.Tyr3759His)
NM_001009944.3(PKD1):c.11285C>T (p.Pro3762Leu)
NM_001009944.3(PKD1):c.11290G>A (p.Gly3764Ser)
NM_001009944.3(PKD1):c.11297G>A (p.Arg3766Lys)
NM_001009944.3(PKD1):c.11308_11312dup (p.Ala3773fs)
NM_001009944.3(PKD1):c.11316C>A (p.Ala3772=)
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.11317G>A (p.Ala3773Thr)
NM_001009944.3(PKD1):c.11338G>A (p.Asp3780Asn)
NM_001009944.3(PKD1):c.1133A>G (p.Gln378Arg)
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del) rs2091618795
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup) rs2091618795
NM_001009944.3(PKD1):c.11342ACG[1] (p.Asp3782del)
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
NM_001009944.3(PKD1):c.11344G>A (p.Asp3782Asn)
NM_001009944.3(PKD1):c.11346del (p.Asp3782fs)
NM_001009944.3(PKD1):c.11347G>C (p.Val3783Leu)
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val) rs142455071
NM_001009944.3(PKD1):c.11352_11355dup (p.Glu3786fs)
NM_001009944.3(PKD1):c.11361T>A (p.Ser3787Arg)
NM_001009944.3(PKD1):c.11366_11369del (p.His3789fs)
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11381C>G (p.Thr3794Arg)
NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs)
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys) rs138629093
NM_001009944.3(PKD1):c.11396C>A (p.Ala3799Glu)
NM_001009944.3(PKD1):c.1139G>A (p.Arg380His)
NM_001009944.3(PKD1):c.11410G>C (p.Gly3804Arg)
NM_001009944.3(PKD1):c.11411+1G>C rs2091612821
NM_001009944.3(PKD1):c.11411+1G>T
NM_001009944.3(PKD1):c.11411+2T>C
NM_001009944.3(PKD1):c.11412-1G>A
NM_001009944.3(PKD1):c.11412-7C>A
NM_001009944.3(PKD1):c.11412-7C>T rs553377243
NM_001009944.3(PKD1):c.11418G>C (p.Trp3806Cys)
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11426G>A (p.Gly3809Asp)
NM_001009944.3(PKD1):c.11431T>C (p.Cys3811Arg)
NM_001009944.3(PKD1):c.11443del (p.Asp3815fs)
NM_001009944.3(PKD1):c.11450G>C (p.Gly3817Ala)
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs) rs1567153194
NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11458G>A (p.Val3820Met)
NM_001009944.3(PKD1):c.11485G>A (p.Glu3829Lys)
NM_001009944.3(PKD1):c.11491C>T (p.Arg3831Cys)
NM_001009944.3(PKD1):c.11492G>A (p.Arg3831His)
NM_001009944.3(PKD1):c.11502_11506del (p.Arg3835fs)
NM_001009944.3(PKD1):c.1150G>T (p.Gly384Cys)
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter) rs199476096
NM_001009944.3(PKD1):c.11522A>G (p.Asn3841Ser)
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) rs1596481464
NM_001009944.3(PKD1):c.11527C>T (p.Leu3843=)
NM_001009944.3(PKD1):c.11537+2T>A rs2151697557
NM_001009944.3(PKD1):c.11538-4G>T rs763279854
NM_001009944.3(PKD1):c.11538-5C>G
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) rs2151695909
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter) rs2091580237
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11564C>A (p.Thr3855Lys)
NM_001009944.3(PKD1):c.1156G>A (p.Glu386Lys)
NM_001009944.3(PKD1):c.11579_11582del (p.Ala3860fs)
NM_001009944.3(PKD1):c.11580_11581delinsT (p.Val3861fs)
NM_001009944.3(PKD1):c.11591dup (p.His3864fs)
NM_001009944.3(PKD1):c.11595_11605dup (p.Leu3869fs)
NM_001009944.3(PKD1):c.11599G>A (p.Val3867Ile)
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro) rs1555445569
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg) rs1555445569
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) rs2091577195
NM_001009944.3(PKD1):c.11617T>C (p.Phe3873Leu)
NM_001009944.3(PKD1):c.11642C>A (p.Ala3881Asp)
NM_001009944.3(PKD1):c.1165_1167delinsAT (p.Tyr389fs)
NM_001009944.3(PKD1):c.11683G>A (p.Ala3895Thr)
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) rs1251469390
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs) rs2151695024
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11699C>T (p.Pro3900Leu)
NM_001009944.3(PKD1):c.1169G>A (p.Ser390Asn)
NM_001009944.3(PKD1):c.116G>A (p.Cys39Tyr) rs2151858290
NM_001009944.3(PKD1):c.11708C>G (p.Thr3903Ser)
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp) rs2091571469
NM_001009944.3(PKD1):c.11713-1G>T
NM_001009944.3(PKD1):c.11713-2A>T
NM_001009944.3(PKD1):c.11713-2_11718dup
NM_001009944.3(PKD1):c.11713-6C>G
NM_001009944.3(PKD1):c.11720T>G (p.Leu3907Arg)
NM_001009944.3(PKD1):c.11726_11733delinsGCAGCAGGCGAAGTGGCAGCA (p.Leu3909fs)
NM_001009944.3(PKD1):c.11728T>C (p.Phe3910Leu)
NM_001009944.3(PKD1):c.11729delinsGCA (p.Phe3910fs)
NM_001009944.3(PKD1):c.11741T>C (p.Phe3914Ser)
NM_001009944.3(PKD1):c.11745C>A (p.Ala3915=)
NM_001009944.3(PKD1):c.11749G>T (p.Ala3917Ser)
NM_001009944.3(PKD1):c.11751C>A (p.Ala3917=)
NM_001009944.3(PKD1):c.11752G>A (p.Glu3918Lys)
NM_001009944.3(PKD1):c.11765G>A (p.Trp3922Ter)
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11779C>T (p.Arg3927Cys)
NM_001009944.3(PKD1):c.11797del (p.Leu3933fs)
NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)
NM_001009944.3(PKD1):c.11803G>A (p.Ala3935Thr)
NM_001009944.3(PKD1):c.11813G>A (p.Arg3938Gln)
NM_001009944.3(PKD1):c.11837C>A (p.Ala3946Glu)
NM_001009944.3(PKD1):c.11837C>T (p.Ala3946Val)
NM_001009944.3(PKD1):c.11839G>C (p.Ala3947Pro)
NM_001009944.3(PKD1):c.1183_1195dup (p.Ala399fs)
NM_001009944.3(PKD1):c.11843C>G (p.Thr3948Arg)
NM_001009944.3(PKD1):c.11855G>A (p.Arg3952His)
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro)
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.11864A>G (p.Gln3955Arg)
NM_001009944.3(PKD1):c.11864_11865delinsC (p.Gln3955fs)
NM_001009944.3(PKD1):c.1186G>A (p.Glu396Lys)
NM_001009944.3(PKD1):c.11875G>A (p.Ala3959Thr)
NM_001009944.3(PKD1):c.11882G>T (p.Arg3961Leu)
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) rs1596476503
NM_001009944.3(PKD1):c.11888G>A (p.Trp3963Ter)
NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)
NM_001009944.3(PKD1):c.11906G>C (p.Gly3969Ala)
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11917C>A (p.Arg3973Ser)
NM_001009944.3(PKD1):c.11926A>G (p.Ser3976Gly)
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.11948T>C (p.Leu3983Pro)
NM_001009944.3(PKD1):c.11954C>G (p.Ser3985Cys)
NM_001009944.3(PKD1):c.11962dup (p.Arg3988fs)
NM_001009944.3(PKD1):c.11966G>C (p.Gly3989Ala)
NM_001009944.3(PKD1):c.11987_11988insA (p.Phe3996fs)
NM_001009944.3(PKD1):c.1199G>A (p.Arg400Gln)
NM_001009944.3(PKD1):c.1199G>T (p.Arg400Leu)
NM_001009944.3(PKD1):c.12003+1G>C
NM_001009944.3(PKD1):c.12003+1G>T
NM_001009944.3(PKD1):c.12004-2A>C rs2091475604
NM_001009944.3(PKD1):c.12004-2A>G rs2091475604
NM_001009944.3(PKD1):c.12004-3C>T
NM_001009944.3(PKD1):c.12008C>T (p.Ala4003Val)
NM_001009944.3(PKD1):c.1201+5G>A
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
NM_001009944.3(PKD1):c.1202-10C>G
NM_001009944.3(PKD1):c.1202-11C>G
NM_001009944.3(PKD1):c.1202-1G>A rs2151822688
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12022T>C (p.Phe4008Leu)
NM_001009944.3(PKD1):c.12025G>C (p.Val4009Leu)
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter) rs1218054241
NM_001009944.3(PKD1):c.12039C>T (p.Ser4013=)
NM_001009944.3(PKD1):c.1203G>A (p.Ala401=)
NM_001009944.3(PKD1):c.12053C>T (p.Thr4018Ile)
NM_001009944.3(PKD1):c.12078_12080del (p.Leu4027del)
NM_001009944.3(PKD1):c.12095G>T (p.Gly4032Val) rs142768096
NM_001009944.3(PKD1):c.12105G>A (p.Val4035=)
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg) rs767579073
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12136C>G (p.Leu4046Val)
NM_001009944.3(PKD1):c.12139-1G>A
NM_001009944.3(PKD1):c.12148del (p.Ser4050fs)
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe) rs186160250
NM_001009944.3(PKD1):c.12155T>A (p.Val4052Glu)
NM_001009944.3(PKD1):c.12162_12165del (p.Leu4055fs)
NM_001009944.3(PKD1):c.12181del (p.Ala4061fs)
NM_001009944.3(PKD1):c.121C>T (p.Pro41Ser)
NM_001009944.3(PKD1):c.12206C>T (p.Thr4069Ile)
NM_001009944.3(PKD1):c.12218C>G (p.Thr4073Ser)
NM_001009944.3(PKD1):c.12220_12221del (p.Leu4074fs)
NM_001009944.3(PKD1):c.12221dup (p.Cys4075fs)
NM_001009944.3(PKD1):c.12226C>G (p.Pro4076Ala)
NM_001009944.3(PKD1):c.12229G>T (p.Ala4077Ser)
NM_001009944.3(PKD1):c.12246_12247del (p.Ser4083fs)
NM_001009944.3(PKD1):c.12262G>T (p.Val4088Leu)
NM_001009944.3(PKD1):c.12298C>T (p.Arg4100Trp)
NM_001009944.3(PKD1):c.12308C>T (p.Ala4103Val)
NM_001009944.3(PKD1):c.1230G>A (p.Thr410=)
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) rs1060499718
NM_001009944.3(PKD1):c.12313A>G (p.Ile4105Val)
NM_001009944.3(PKD1):c.12319C>T (p.Arg4107Cys)
NM_001009944.3(PKD1):c.12323G>A (p.Trp4108Ter)
NM_001009944.3(PKD1):c.12329A>T (p.Tyr4110Phe)
NM_001009944.3(PKD1):c.12332A>G (p.His4111Arg)
NM_001009944.3(PKD1):c.12332_12336del (p.His4111fs)
NM_001009944.3(PKD1):c.12357del (p.Pro4120fs)
NM_001009944.3(PKD1):c.12359C>T (p.Pro4120Leu)
NM_001009944.3(PKD1):c.12369G>A (p.Glu4123=)
NM_001009944.3(PKD1):c.12370C>A (p.Pro4124Thr)
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter) rs756212622
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs) rs2151680679
NM_001009944.3(PKD1):c.12386T>G (p.Met4129Arg) rs2091436717
NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del)
NM_001009944.3(PKD1):c.12387G>A (p.Met4129Ile)
NM_001009944.3(PKD1):c.12387G>C (p.Met4129Ile)
NM_001009944.3(PKD1):c.12389T>C (p.Val4130Ala)
NM_001009944.3(PKD1):c.12391_12392delinsTT (p.Glu4131Leu)
NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)
NM_001009944.3(PKD1):c.12410T>C (p.Leu4137Pro)
NM_001009944.3(PKD1):c.12415C>T (p.Leu4139Phe)
NM_001009944.3(PKD1):c.12431G>C (p.Ser4144Thr)
NM_001009944.3(PKD1):c.12444+19G>T
NM_001009944.3(PKD1):c.12445-1G>T
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12463T>C (p.Phe4155Leu)
NM_001009944.3(PKD1):c.12475G>T (p.Glu4159Ter)
NM_001009944.3(PKD1):c.12478C>T (p.Pro4160Ser)
NM_001009944.3(PKD1):c.12479C>G (p.Pro4160Arg)
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.1249G>A (p.Gly417Arg)
NM_001009944.3(PKD1):c.12501G>A (p.Arg4167=)
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12525G>C (p.Val4175=)
NM_001009944.3(PKD1):c.12531del (p.Ser4179fs)
NM_001009944.3(PKD1):c.1253A>C (p.His418Pro)
NM_001009944.3(PKD1):c.1254dup (p.Cys419fs)
NM_001009944.3(PKD1):c.12554C>T (p.Ser4185Leu)
NM_001009944.3(PKD1):c.12557A>C (p.His4186Pro)
NM_001009944.3(PKD1):c.12557A>G (p.His4186Arg)
NM_001009944.3(PKD1):c.12565_12568delinsTCCA (p.Thr4189_Ser4190delinsSerThr)
NM_001009944.3(PKD1):c.12566C>T (p.Thr4189Ile)
NM_001009944.3(PKD1):c.12568T>A (p.Ser4190Thr)
NM_001009944.3(PKD1):c.12574A>C (p.Ser4192Arg)
NM_001009944.3(PKD1):c.12581dup (p.Asp4195fs)
NM_001009944.3(PKD1):c.12586_12589del (p.Asp4195_Gly4196insTer)
NM_001009944.3(PKD1):c.1258T>C (p.Tyr420His)
NM_001009944.3(PKD1):c.12590T>C (p.Leu4197Pro)
NM_001009944.3(PKD1):c.12602T>C (p.Leu4201Pro)
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12624_12625dup (p.Glu4209fs)
NM_001009944.3(PKD1):c.12628C>T (p.Pro4210Ser)
NM_001009944.3(PKD1):c.12632A>G (p.Glu4211Gly)
NM_001009944.3(PKD1):c.12641G>A (p.Arg4214His)
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
NM_001009944.3(PKD1):c.12646C>T (p.Gln4216Ter)
NM_001009944.3(PKD1):c.12648A>C (p.Gln4216His)
NM_001009944.3(PKD1):c.12656dup (p.Glu4220fs)
NM_001009944.3(PKD1):c.12657_12658delinsAT (p.Phe4219_Glu4220delinsLeuTer)
NM_001009944.3(PKD1):c.12658G>A (p.Glu4220Lys)
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12703G>A (p.Asp4235Asn)
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.12739C>T (p.Gln4247Ter)
NM_001009944.3(PKD1):c.12758G>A (p.Arg4253Gln)
NM_001009944.3(PKD1):c.12779G>A (p.Arg4260His)
NM_001009944.3(PKD1):c.12779G>C (p.Arg4260Pro)
NM_001009944.3(PKD1):c.1277dup (p.Ala427fs)
NM_001009944.3(PKD1):c.12784C>T (p.Pro4262Ser)
NM_001009944.3(PKD1):c.12818G>A (p.Arg4273His)
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12830C>A (p.Ala4277Asp)
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=) rs375443308
NM_001009944.3(PKD1):c.12845A>C (p.Asp4282Ala)
NM_001009944.3(PKD1):c.12850G>A (p.Ala4284Thr)
NM_001009944.3(PKD1):c.12851C>T (p.Ala4284Val)
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)
NM_001009944.3(PKD1):c.12867_12905dup (p.Ser4301_Ser4302insArgThrProLeuArgAlaLysAsnLysValHisProSer)
NM_001009944.3(PKD1):c.12871C>A (p.Pro4291Thr)
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys) rs777990224
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr) rs2092660647
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1313C>T (p.Ala438Val)
NM_001009944.3(PKD1):c.1326del (p.Ala443fs) rs2151822381
NM_001009944.3(PKD1):c.1334C>T (p.Ala445Val)
NM_001009944.3(PKD1):c.1355_1361del (p.Val452fs)
NM_001009944.3(PKD1):c.1357C>T (p.Gln453Ter)
NM_001009944.3(PKD1):c.1375C>A (p.Arg459=)
NM_001009944.3(PKD1):c.1386-11C>T
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1396G>C (p.Val466Leu)
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.1412C>T (p.Ser471Leu)
NM_001009944.3(PKD1):c.1416T>A (p.Thr472=)
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1430A>T (p.Glu477Val)
NM_001009944.3(PKD1):c.1437C>T (p.Gly479=)
NM_001009944.3(PKD1):c.1439C>T (p.Pro480Leu)
NM_001009944.3(PKD1):c.1441G>T (p.Ala481Ser)
NM_001009944.3(PKD1):c.1451G>A (p.Gly484Asp)
NM_001009944.3(PKD1):c.146T>A (p.Val49Asp)
NM_001009944.3(PKD1):c.1488delinsTC (p.Gly498fs)
NM_001009944.3(PKD1):c.149A>G (p.Asn50Ser)
NM_001009944.3(PKD1):c.1505del (p.Pro502fs)
NM_001009944.3(PKD1):c.1516G>A (p.Glu506Lys)
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1524C>A (p.Cys508Ter)
NM_001009944.3(PKD1):c.1525G>A (p.Val509Ile)
NM_001009944.3(PKD1):c.1529G>A (p.Arg510Gln)
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro)
NM_001009944.3(PKD1):c.1532T>G (p.Leu511Arg)
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs) rs2151820655
NM_001009944.3(PKD1):c.1547G>A (p.Trp516Ter)
NM_001009944.3(PKD1):c.1561C>G (p.Leu521Val)
NM_001009944.3(PKD1):c.1564_1565del (p.Cys522fs)
NM_001009944.3(PKD1):c.1567T>C (p.Ser523Pro)
NM_001009944.3(PKD1):c.1568C>G (p.Ser523Ter)
NM_001009944.3(PKD1):c.1568C>T (p.Ser523Leu)
NM_001009944.3(PKD1):c.1574C>G (p.Pro525Arg)
NM_001009944.3(PKD1):c.1580G>C (p.Ser527Thr)
NM_001009944.3(PKD1):c.1582T>G (p.Tyr528Asp)
NM_001009944.3(PKD1):c.1585G>A (p.Val529Ile)
NM_001009944.3(PKD1):c.1595_1598dup (p.Gln533fs)
NM_001009944.3(PKD1):c.1606+1G>A rs2151820539
NM_001009944.3(PKD1):c.1606+6C>T
NM_001009944.3(PKD1):c.160C>G (p.Arg54Gly)
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs) rs3072277
NM_001009944.3(PKD1):c.1616A>G (p.Gln539Arg)
NM_001009944.3(PKD1):c.1616A>T (p.Gln539Leu)
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1640del (p.Gly547fs)
NM_001009944.3(PKD1):c.1654G>A (p.Asp552Asn)
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1673C>T (p.Thr558Met)
NM_001009944.3(PKD1):c.1676C>G (p.Pro559Arg)
NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg) rs1185676416
NM_001009944.3(PKD1):c.1687C>G (p.Gln563Glu)
NM_001009944.3(PKD1):c.1699_1700del (p.Ala568fs)
NM_001009944.3(PKD1):c.169C>T (p.Arg57Trp)
NM_001009944.3(PKD1):c.1706C>T (p.Pro569Leu)
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.1723-4C>G
NM_001009944.3(PKD1):c.1732T>A (p.Phe578Ile)
NM_001009944.3(PKD1):c.1736C>G (p.Pro579Arg)
NM_001009944.3(PKD1):c.1736C>T (p.Pro579Leu)
NM_001009944.3(PKD1):c.173_193dup (p.Arg64_Ile65insThrLeuGlyProAlaLeuArg)
NM_001009944.3(PKD1):c.1754G>A (p.Arg585His)
NM_001009944.3(PKD1):c.1756G>C (p.Glu586Gln)
NM_001009944.3(PKD1):c.1772C>T (p.Thr591Met)
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser) rs1596582702
NM_001009944.3(PKD1):c.1789C>T (p.Gln597Ter)
NM_001009944.3(PKD1):c.1792G>C (p.Glu598Gln)
NM_001009944.3(PKD1):c.17C>G (p.Pro6Arg)
NM_001009944.3(PKD1):c.1802G>A (p.Arg601Gln)
NM_001009944.3(PKD1):c.1802G>C (p.Arg601Pro)
NM_001009944.3(PKD1):c.1807G>A (p.Ala603Thr)
NM_001009944.3(PKD1):c.1807G>C (p.Ala603Pro)
NM_001009944.3(PKD1):c.1817G>C (p.Arg606Pro) rs2092629034
NM_001009944.3(PKD1):c.1832G>A (p.Arg611Gln)
NM_001009944.3(PKD1):c.1849+19G>A
NM_001009944.3(PKD1):c.1849+1G>T rs2092628618
NM_001009944.3(PKD1):c.1850-12C>G
NM_001009944.3(PKD1):c.1856C>T (p.Pro619Leu)
NM_001009944.3(PKD1):c.1870G>A (p.Glu624Lys)
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp) rs763213387
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter) rs1348307652
NM_001009944.3(PKD1):c.1910C>T (p.Ala637Val)
NM_001009944.3(PKD1):c.1916C>T (p.Ala639Val)
NM_001009944.3(PKD1):c.1919G>A (p.Cys640Tyr)
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)
NM_001009944.3(PKD1):c.1924C>A (p.Pro642Thr)
NM_001009944.3(PKD1):c.1930G>T (p.Gly644Ter)
NM_001009944.3(PKD1):c.1938G>A (p.Trp646Ter)
NM_001009944.3(PKD1):c.1945G>A (p.Gly649Arg)
NM_001009944.3(PKD1):c.1969G>A (p.Asp657Asn)
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
NM_001009944.3(PKD1):c.1A>C (p.Met1Leu)
NM_001009944.3(PKD1):c.1A>T (p.Met1Leu)
NM_001009944.3(PKD1):c.2033C>T (p.Ala678Val)
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs) rs1448641464
NM_001009944.3(PKD1):c.2042C>T (p.Ala681Val)
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs) rs2151816205
NM_001009944.3(PKD1):c.2079G>C (p.Gly693=)
NM_001009944.3(PKD1):c.2079del (p.Ala696fs)
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001009944.3(PKD1):c.2081_2085dup (p.Ala696fs)
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2097+1G>A rs2151816064
NM_001009944.3(PKD1):c.2099T>A (p.Val700Asp)
NM_001009944.3(PKD1):c.2100C>G (p.Val700=)
NM_001009944.3(PKD1):c.2104C>T (p.Leu702Phe)
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln) rs527655141
NM_001009944.3(PKD1):c.2122C>A (p.Leu708Ile)
NM_001009944.3(PKD1):c.2126T>C (p.Met709Thr)
NM_001009944.3(PKD1):c.2128C>T (p.Leu710Phe)
NM_001009944.3(PKD1):c.2143G>A (p.Val715Ile)
NM_001009944.3(PKD1):c.2143G>T (p.Val715Phe)
NM_001009944.3(PKD1):c.215+2_215+3del rs2092939625
NM_001009944.3(PKD1):c.215+5G>A
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.216-3C>T
NM_001009944.3(PKD1):c.2169_2170delinsA (p.Gly724fs)
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln) rs1616940
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.2195C>T (p.Ala732Val)
NM_001009944.3(PKD1):c.2212C>A (p.Pro738Thr)
NM_001009944.3(PKD1):c.2222C>T (p.Pro741Leu)
NM_001009944.3(PKD1):c.2226C>G (p.Tyr742Ter)
NM_001009944.3(PKD1):c.2227C>G (p.Leu743Val)
NM_001009944.3(PKD1):c.2237A>G (p.Asn746Ser)
NM_001009944.3(PKD1):c.2246C>G (p.Ser749Ter)
NM_001009944.3(PKD1):c.224C>T (p.Ser75Phe)
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter) rs775710328
NM_001009944.3(PKD1):c.2279G>T (p.Gly760Val)
NM_001009944.3(PKD1):c.2282C>A (p.Thr761Asn)
NM_001009944.3(PKD1):c.2287G>A (p.Ala763Thr)
NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs) rs2092600667
NM_001009944.3(PKD1):c.2294C>T (p.Pro765Leu)
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs) rs2092600549
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser) rs2092686792
NM_001009944.3(PKD1):c.2315T>C (p.Leu772Pro)
NM_001009944.3(PKD1):c.2320G>A (p.Ala774Thr)
NM_001009944.3(PKD1):c.2335A>G (p.Thr779Ala)
NM_001009944.3(PKD1):c.2338G>A (p.Val780Met)
NM_001009944.3(PKD1):c.2362C>A (p.Pro788Thr)
NM_001009944.3(PKD1):c.2371C>T (p.Arg791Trp)
NM_001009944.3(PKD1):c.2377C>T (p.Pro793Ser)
NM_001009944.3(PKD1):c.2405T>A (p.Val802Glu)
NM_001009944.3(PKD1):c.2415C>T (p.Gly805=)
NM_001009944.3(PKD1):c.2425C>T (p.His809Tyr)
NM_001009944.3(PKD1):c.2427_2428del (p.His809fs)
NM_001009944.3(PKD1):c.2474G>A (p.Arg825Gln)
NM_001009944.3(PKD1):c.2489C>A (p.Ala830Asp)
NM_001009944.3(PKD1):c.2492C>A (p.Pro831His)
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2495G>A (p.Arg832His)
NM_001009944.3(PKD1):c.2503C>T (p.Arg835Cys)
NM_001009944.3(PKD1):c.250G>A (p.Val84Ile)
NM_001009944.3(PKD1):c.2524_2525dup (p.Ser843fs)
NM_001009944.3(PKD1):c.2530G>C (p.Ala844Pro)
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2536G>A (p.Val846Met)
NM_001009944.3(PKD1):c.2543A>C (p.Gln848Pro)
NM_001009944.3(PKD1):c.2550C>G (p.Asp850Glu)
NM_001009944.3(PKD1):c.2553_2554del (p.Gly852fs)
NM_001009944.3(PKD1):c.2555G>A (p.Gly852Asp)
NM_001009944.3(PKD1):c.2561A>G (p.Asn854Ser)
NM_001009944.3(PKD1):c.2563G>A (p.Ala855Thr)
NM_001009944.3(PKD1):c.2602G>A (p.Ala868Thr)
NM_001009944.3(PKD1):c.2602G>T (p.Ala868Ser)
NM_001009944.3(PKD1):c.2605C>T (p.Arg869Cys)
NM_001009944.3(PKD1):c.2609_2610dup (p.Glu871fs)
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs) rs1596575646
NM_001009944.3(PKD1):c.2618_2622dup (p.Pro875fs)
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.2629C>G (p.Leu877Val)
NM_001009944.3(PKD1):c.263C>T (p.Ala88Val)
NM_001009944.3(PKD1):c.2654G>A (p.Cys885Tyr)
NM_001009944.3(PKD1):c.2659del (p.Trp887fs) rs2092593850
NM_001009944.3(PKD1):c.2663del (p.Glu888fs)
NM_001009944.3(PKD1):c.2675C>T (p.Thr892Ile)
NM_001009944.3(PKD1):c.268del (p.Leu90fs)
NM_001009944.3(PKD1):c.2703G>A (p.Trp901Ter)
NM_001009944.3(PKD1):c.2709_2712del (p.Ser903fs)
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter) rs2151812964
NM_001009944.3(PKD1):c.2725G>C (p.Val909Leu)
NM_001009944.3(PKD1):c.2729_2730del (p.Asp910fs)
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter) rs1339097856
NM_001009944.3(PKD1):c.2730_2741del (p.Asp910_Val913del)
NM_001009944.3(PKD1):c.2781G>A (p.Thr927=)
NM_001009944.3(PKD1):c.2781_2782insAG (p.Ala928fs) rs1596574987
NM_001009944.3(PKD1):c.2783C>T (p.Ala928Val)
NM_001009944.3(PKD1):c.2790G>T (p.Glu930Asp)
NM_001009944.3(PKD1):c.2830C>T (p.Arg944Cys)
NM_001009944.3(PKD1):c.2831G>A (p.Arg944His)
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp) rs1305213807
NM_001009944.3(PKD1):c.287T>A (p.Leu96Gln)
NM_001009944.3(PKD1):c.288-1G>C
NM_001009944.3(PKD1):c.288-2A>G rs2092684358
NM_001009944.3(PKD1):c.2882C>G (p.Ser961Trp)
NM_001009944.3(PKD1):c.2884G>C (p.Asp962His)
NM_001009944.3(PKD1):c.2897G>A (p.Arg966Gln)
NM_001009944.3(PKD1):c.2927C>G (p.Thr976Ser)
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.2941G>T (p.Val981Phe)
NM_001009944.3(PKD1):c.295A>C (p.Ser99Arg)
NM_001009944.3(PKD1):c.2960_2973del (p.Gln987fs)
NM_001009944.3(PKD1):c.2966C>T (p.Ala989Val)
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=) rs1324429294
NM_001009944.3(PKD1):c.2968dup (p.Ala990fs)
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del)
NM_001009944.3(PKD1):c.2983T>A (p.Ser995Thr)
NM_001009944.3(PKD1):c.2984C>G (p.Ser995Ter)
NM_001009944.3(PKD1):c.2986-2A>G
NM_001009944.3(PKD1):c.2990C>T (p.Thr997Met)
NM_001009944.3(PKD1):c.2996C>G (p.Ser999Cys)
NM_001009944.3(PKD1):c.2996C>T (p.Ser999Phe)
NM_001009944.3(PKD1):c.3006G>A (p.Val1002=)
NM_001009944.3(PKD1):c.3019G>T (p.Val1007Leu)
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter) rs753261451
NM_001009944.3(PKD1):c.305_307del (p.Lys102del) rs1567219527
NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter) rs2092555939
NM_001009944.3(PKD1):c.3068A>T (p.Gln1023Leu)
NM_001009944.3(PKD1):c.3070G>A (p.Val1024Ile)
NM_001009944.3(PKD1):c.3083C>G (p.Pro1028Arg)
NM_001009944.3(PKD1):c.3100A>T (p.Asn1034Tyr)
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3104C>T (p.Ala1035Val)
NM_001009944.3(PKD1):c.3105_3109del (p.Thr1036fs)
NM_001009944.3(PKD1):c.3106A>G (p.Thr1036Ala)
NM_001009944.3(PKD1):c.3106dup (p.Thr1036fs)
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.3124G>A (p.Gly1042Ser)
NM_001009944.3(PKD1):c.3126C>T (p.Gly1042=)
NM_001009944.3(PKD1):c.3141G>A (p.Ser1047=)
NM_001009944.3(PKD1):c.3145G>T (p.Val1049Leu)
NM_001009944.3(PKD1):c.3148G>T (p.Glu1050Ter)
NM_001009944.3(PKD1):c.3161+1G>T
NM_001009944.3(PKD1):c.3162-1G>C
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)
NM_001009944.3(PKD1):c.3168del (p.Phe1057fs)
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3171_3172del (p.Phe1057fs) rs2151804597
NM_001009944.3(PKD1):c.3185A>G (p.Gln1062Arg)
NM_001009944.3(PKD1):c.3196C>T (p.Gln1066Ter)
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser) rs2092538545
NM_001009944.3(PKD1):c.3213C>G (p.Tyr1071Ter)
NM_001009944.3(PKD1):c.3229G>A (p.Val1077Ile)
NM_001009944.3(PKD1):c.3239C>T (p.Pro1080Leu)
NM_001009944.3(PKD1):c.3244G>A (p.Val1082Met)
NM_001009944.3(PKD1):c.3250C>T (p.Gln1084Ter) rs1373028227
NM_001009944.3(PKD1):c.3267del (p.His1089fs)
NM_001009944.3(PKD1):c.3277C>G (p.His1093Asp)
NM_001009944.3(PKD1):c.3282del (p.Tyr1095fs)
NM_001009944.3(PKD1):c.3284A>G (p.Tyr1095Cys)
NM_001009944.3(PKD1):c.3295+1G>A
NM_001009944.3(PKD1):c.3296-2A>G
NM_001009944.3(PKD1):c.3296-4_3304del
NM_001009944.3(PKD1):c.330A>G (p.Ile110Met)
NM_001009944.3(PKD1):c.3311C>T (p.Thr1104Ile)
NM_001009944.3(PKD1):c.3313G>A (p.Val1105Met)
NM_001009944.3(PKD1):c.3317T>C (p.Leu1106Pro)
NM_001009944.3(PKD1):c.3338A>G (p.Asn1113Ser)
NM_001009944.3(PKD1):c.3341T>G (p.Leu1114Arg)
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter) rs755084885
NM_001009944.3(PKD1):c.3355C>A (p.Pro1119Thr)
NM_001009944.3(PKD1):c.3364G>A (p.Val1122Met)
NM_001009944.3(PKD1):c.3384C>A (p.Ser1128=)
NM_001009944.3(PKD1):c.3405C>G (p.Asp1135Glu)
NM_001009944.3(PKD1):c.3409G>C (p.Val1137Leu)
NM_001009944.3(PKD1):c.3420del (p.Gly1141fs)
NM_001009944.3(PKD1):c.3425_3428dup (p.Val1144fs)
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3442C>G (p.Pro1148Ala)
NM_001009944.3(PKD1):c.3446A>T (p.His1149Leu)
NM_001009944.3(PKD1):c.3466_3467dup (p.Leu1158fs)
NM_001009944.3(PKD1):c.3467G>C (p.Gly1156Ala)
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=) rs151026121
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys) rs1483748105
NM_001009944.3(PKD1):c.3487T>G (p.Phe1163Val)
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.3499T>C (p.Ser1167Pro)
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.352A>G (p.Ser118Gly)
NM_001009944.3(PKD1):c.3535C>A (p.His1179Asn)
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.3551G>A (p.Arg1184Lys)
NM_001009944.3(PKD1):c.3554G>T (p.Gly1185Val)
NM_001009944.3(PKD1):c.3556A>T (p.Thr1186Ser)
NM_001009944.3(PKD1):c.355G>A (p.Glu119Lys)
NM_001009944.3(PKD1):c.3560A>C (p.Tyr1187Ser)
NM_001009944.3(PKD1):c.3569G>A (p.Arg1190His) rs140152387
NM_001009944.3(PKD1):c.3570C>T (p.Arg1190=)
NM_001009944.3(PKD1):c.3587C>T (p.Thr1196Met)
NM_001009944.3(PKD1):c.359+2T>G rs2092683440
NM_001009944.3(PKD1):c.359+5G>A rs2092683412
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs) rs778028967
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter) rs2092506242
NM_001009944.3(PKD1):c.3611C>A (p.Ala1204Glu)
NM_001009944.3(PKD1):c.3611del (p.Ala1204fs)
NM_001009944.3(PKD1):c.3613G>C (p.Asp1205His)
NM_001009944.3(PKD1):c.3619C>T (p.Arg1207Cys)
NM_001009944.3(PKD1):c.3620G>A (p.Arg1207His)
NM_001009944.3(PKD1):c.3652dup (p.Asp1218fs)
NM_001009944.3(PKD1):c.3655A>C (p.Met1219Leu)
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val) rs139100448
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met) rs749092859
NM_001009944.3(PKD1):c.3668T>C (p.Val1223Ala)
NM_001009944.3(PKD1):c.3680C>T (p.Ala1227Val)
NM_001009944.3(PKD1):c.3697G>A (p.Ala1233Thr)
NM_001009944.3(PKD1):c.3698C>G (p.Ala1233Gly)
NM_001009944.3(PKD1):c.3700G>A (p.Ala1234Thr)
NM_001009944.3(PKD1):c.3704T>C (p.Val1235Ala)
NM_001009944.3(PKD1):c.3715G>A (p.Asp1239Asn)
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly) rs2151800134
NM_001009944.3(PKD1):c.3741G>C (p.Met1247Ile)
NM_001009944.3(PKD1):c.3743G>A (p.Gly1248Glu)
NM_001009944.3(PKD1):c.3745G>A (p.Asp1249Asn)
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala) rs2092501507
NM_001009944.3(PKD1):c.3748G>A (p.Gly1250Ser)
NM_001009944.3(PKD1):c.3754G>A (p.Val1252Met)
NM_001009944.3(PKD1):c.3755T>C (p.Val1252Ala)
NM_001009944.3(PKD1):c.3761C>A (p.Ser1254Ter)
NM_001009944.3(PKD1):c.3761C>T (p.Ser1254Leu)
NM_001009944.3(PKD1):c.3762G>A (p.Ser1254=)
NM_001009944.3(PKD1):c.3767C>T (p.Pro1256Leu)
NM_001009944.3(PKD1):c.3768G>A (p.Pro1256=)
NM_001009944.3(PKD1):c.3785A>C (p.His1262Pro)
NM_001009944.3(PKD1):c.3792C>T (p.Tyr1264=)
NM_001009944.3(PKD1):c.3797G>A (p.Arg1266Gln)
NM_001009944.3(PKD1):c.37C>G (p.Leu13Val)
NM_001009944.3(PKD1):c.3803A>T (p.Gln1268Leu)
NM_001009944.3(PKD1):c.3809G>A (p.Cys1270Tyr)
NM_001009944.3(PKD1):c.3814G>C (p.Val1272Leu)
NM_001009944.3(PKD1):c.3823G>A (p.Gly1275Ser)
NM_001009944.3(PKD1):c.3827C>T (p.Ala1276Val)
NM_001009944.3(PKD1):c.382dup (p.Glu128fs)
NM_001009944.3(PKD1):c.3830C>T (p.Ala1277Val)
NM_001009944.3(PKD1):c.3833G>T (p.Ser1278Ile)
NM_001009944.3(PKD1):c.385T>C (p.Cys129Arg)
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro)
NM_001009944.3(PKD1):c.3865dup (p.Val1289fs)
NM_001009944.3(PKD1):c.387T>G (p.Cys129Trp)
NM_001009944.3(PKD1):c.3884A>C (p.Glu1295Ala)
NM_001009944.3(PKD1):c.3890T>C (p.Leu1297Pro)
NM_001009944.3(PKD1):c.3893G>A (p.Arg1298His)
NM_001009944.3(PKD1):c.3895G>A (p.Val1299Ile)
NM_001009944.3(PKD1):c.3895G>C (p.Val1299Leu)
NM_001009944.3(PKD1):c.3898G>C (p.Glu1300Gln)
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro) rs2092941758
NM_001009944.3(PKD1):c.3904G>A (p.Ala1302Thr) rs139993510
NM_001009944.3(PKD1):c.3926C>G (p.Pro1309Arg)
NM_001009944.3(PKD1):c.3930C>G (p.Asp1310Glu)
NM_001009944.3(PKD1):c.3930_3931insCA (p.Ala1311fs)
NM_001009944.3(PKD1):c.3941C>T (p.Thr1314Met)
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.3957_3994dup (p.Asp1332fs)
NM_001009944.3(PKD1):c.3971A>G (p.Tyr1324Cys)
NM_001009944.3(PKD1):c.3973C>T (p.Leu1325Phe)
NM_001009944.3(PKD1):c.3974T>C (p.Leu1325Pro)
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser) rs2092493397
NM_001009944.3(PKD1):c.3982T>C (p.Trp1328Arg)
NM_001009944.3(PKD1):c.3986C>T (p.Thr1329Ile)
NM_001009944.3(PKD1):c.4001C>T (p.Ser1334Phe)
NM_001009944.3(PKD1):c.4006A>C (p.Asn1336His)
NM_001009944.3(PKD1):c.4010C>T (p.Thr1337Met)
NM_001009944.3(PKD1):c.4019G>A (p.Arg1340Gln)
NM_001009944.3(PKD1):c.4021G>A (p.Gly1341Arg)
NM_001009944.3(PKD1):c.4039C>T (p.His1347Tyr)
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs) rs2092491511
NM_001009944.3(PKD1):c.4042_4044del (p.Asn1348del)
NM_001009944.3(PKD1):c.4043A>G (p.Asn1348Ser)
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys) rs2092679535
NM_001009944.3(PKD1):c.4063T>A (p.Phe1355Ile)
NM_001009944.3(PKD1):c.4064_4065dup (p.Pro1356fs)
NM_001009944.3(PKD1):c.4066C>T (p.Pro1356Ser)
NM_001009944.3(PKD1):c.4070T>C (p.Leu1357Pro) rs2151798827
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4077G>T (p.Leu1359=)
NM_001009944.3(PKD1):c.4085C>T (p.Ser1362Phe)
NM_001009944.3(PKD1):c.4093G>A (p.Val1365Met)
NM_001009944.3(PKD1):c.40GGCCTG[1] (p.14GL[1])
NM_001009944.3(PKD1):c.4105C>G (p.His1369Asp)
NM_001009944.3(PKD1):c.4115C>T (p.Thr1372Ile)
NM_001009944.3(PKD1):c.4126G>C (p.Val1376Leu)
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly) rs149210297
NM_001009944.3(PKD1):c.4154T>G (p.Leu1385Arg)
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter)
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
NM_001009944.3(PKD1):c.4171T>C (p.Phe1391Leu)
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val) rs1413875287
NM_001009944.3(PKD1):c.4191G>T (p.Glu1397Asp)
NM_001009944.3(PKD1):c.4193C>T (p.Ala1398Val)
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln)
NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter) rs890465248
NM_001009944.3(PKD1):c.4198C>T (p.Leu1400=)
NM_001009944.3(PKD1):c.41G>A (p.Gly14Asp)
NM_001009944.3(PKD1):c.4205C>T (p.Ala1402Val)
NM_001009944.3(PKD1):c.4209T>G (p.Cys1403Trp)
NM_001009944.3(PKD1):c.4210G>A (p.Ala1404Thr)
NM_001009944.3(PKD1):c.4219C>T (p.Pro1407Ser)
NM_001009944.3(PKD1):c.4228T>G (p.Tyr1410Asp)
NM_001009944.3(PKD1):c.4234T>G (p.Tyr1412Asp)
NM_001009944.3(PKD1):c.424G>A (p.Glu142Lys)
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser)
NM_001009944.3(PKD1):c.4253C>G (p.Thr1418Ser)
NM_001009944.3(PKD1):c.4257G>C (p.Glu1419Asp)
NM_001009944.3(PKD1):c.4265C>A (p.Ala1422Asp)
NM_001009944.3(PKD1):c.4279A>G (p.Arg1427Gly)
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
NM_001009944.3(PKD1):c.427C>G (p.Gln143Glu)
NM_001009944.3(PKD1):c.4296_4298del (p.Phe1433del)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4333G>A (p.Val1445Ile)
NM_001009944.3(PKD1):c.4346A>G (p.Asn1449Ser)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4347C>G (p.Asn1449Lys)
NM_001009944.3(PKD1):c.4355C>T (p.Ser1452Phe)
NM_001009944.3(PKD1):c.4369_4370del (p.Ala1458fs)
NM_001009944.3(PKD1):c.4370C>G (p.Ser1457Ter)
NM_001009944.3(PKD1):c.437G>C (p.Arg146Pro)
NM_001009944.3(PKD1):c.4390G>T (p.Glu1464Ter)
NM_001009944.3(PKD1):c.4391A>T (p.Glu1464Val)
NM_001009944.3(PKD1):c.4396G>A (p.Val1466Met)
NM_001009944.3(PKD1):c.4397T>A (p.Val1466Glu)
NM_001009944.3(PKD1):c.4399C>A (p.Leu1467Met)
NM_001009944.3(PKD1):c.4418T>C (p.Val1473Ala)
NM_001009944.3(PKD1):c.4441C>A (p.Leu1481Met)
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4455C>G (p.Tyr1485Ter)
NM_001009944.3(PKD1):c.4459T>C (p.Phe1487Leu)
NM_001009944.3(PKD1):c.4460T>C (p.Phe1487Ser)
NM_001009944.3(PKD1):c.4460_4469del (p.Phe1487fs)
NM_001009944.3(PKD1):c.4462T>A (p.Ser1488Thr)
NM_001009944.3(PKD1):c.4462T>C (p.Ser1488Pro) rs773746552
NM_001009944.3(PKD1):c.4466C>T (p.Ala1489Val)
NM_001009944.3(PKD1):c.4472G>T (p.Gly1491Val)
NM_001009944.3(PKD1):c.4493A>C (p.Tyr1498Ser)
NM_001009944.3(PKD1):c.4494C>G (p.Tyr1498Ter)
NM_001009944.3(PKD1):c.4506G>A (p.Leu1502=)
NM_001009944.3(PKD1):c.4520G>A (p.Trp1507Ter)
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.4531C>A (p.Pro1511Thr)
NM_001009944.3(PKD1):c.453G>C (p.Glu151Asp)
NM_001009944.3(PKD1):c.4541C>G (p.Thr1514Ser)
NM_001009944.3(PKD1):c.4550A>G (p.Tyr1517Cys)
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4551C>T (p.Tyr1517=)
NM_001009944.3(PKD1):c.4573G>A (p.Val1525Ile)
NM_001009944.3(PKD1):c.4582G>C (p.Ala1528Pro)
NM_001009944.3(PKD1):c.4585G>A (p.Gly1529Ser)
NM_001009944.3(PKD1):c.4585G>T (p.Gly1529Cys)
NM_001009944.3(PKD1):c.4586G>A (p.Gly1529Asp) rs2151797032
NM_001009944.3(PKD1):c.4597G>T (p.Val1533Leu)
NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter) rs1596558405
NM_001009944.3(PKD1):c.4628C>T (p.Thr1543Met)
NM_001009944.3(PKD1):c.4629G>A (p.Thr1543=)
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)
NM_001009944.3(PKD1):c.4639C>T (p.Arg1547Cys)
NM_001009944.3(PKD1):c.4640G>A (p.Arg1547His)
NM_001009944.3(PKD1):c.464G>A (p.Cys155Tyr)
NM_001009944.3(PKD1):c.4651C>T (p.Leu1551Phe)
NM_001009944.3(PKD1):c.4654del (p.Val1552fs) rs2047525622
NM_001009944.3(PKD1):c.4665A>T (p.Ala1555=)
NM_001009944.3(PKD1):c.4667G>C (p.Ser1556Thr)
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=) rs114489044
NM_001009944.3(PKD1):c.4691G>T (p.Gly1564Val)
NM_001009944.3(PKD1):c.4696_4701del (p.Val1566_Ser1567del)
NM_001009944.3(PKD1):c.4709C>G (p.Thr1570Arg)
NM_001009944.3(PKD1):c.4712C>A (p.Ser1571Ter)
NM_001009944.3(PKD1):c.4712C>T (p.Ser1571Leu)
NM_001009944.3(PKD1):c.4723G>A (p.Gly1575Ser)
NM_001009944.3(PKD1):c.4737C>T (p.Arg1579=)
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs) rs2151796475
NM_001009944.3(PKD1):c.4746G>T (p.Trp1582Cys)
NM_001009944.3(PKD1):c.4749_4751delinsAGCGCTATTC (p.Leu1584fs)
NM_001009944.3(PKD1):c.4766C>T (p.Thr1589Met)
NM_001009944.3(PKD1):c.4774C>T (p.Pro1592Ser)
NM_001009944.3(PKD1):c.4793_4794del (p.Ser1598fs)
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.4797C>G (p.Tyr1599Ter)
NM_001009944.3(PKD1):c.4799C>G (p.Thr1600Ser)
NM_001009944.3(PKD1):c.4799C>T (p.Thr1600Ile)
NM_001009944.3(PKD1):c.4818del (p.Phe1607fs)
NM_001009944.3(PKD1):c.4825A>G (p.Ile1609Val)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4835_4839delinsGATGATACTGAA (p.Thr1612_Ala1613delinsArgTer)
NM_001009944.3(PKD1):c.4840G>A (p.Glu1614Lys)
NM_001009944.3(PKD1):c.4846G>A (p.Glu1616Lys)
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter) rs566014072
NM_001009944.3(PKD1):c.4850T>C (p.Val1617Ala)
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.486T>A (p.Ala162=)
NM_001009944.3(PKD1):c.4880A>G (p.Tyr1627Cys)
NM_001009944.3(PKD1):c.4882G>A (p.Val1628Ile)
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
NM_001009944.3(PKD1):c.4894A>T (p.Ile1632Leu)
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4918G>A (p.Gly1640Ser)
NM_001009944.3(PKD1):c.4922G>T (p.Gly1641Val)
NM_001009944.3(PKD1):c.4924C>T (p.Arg1642Cys)
NM_001009944.3(PKD1):c.4935del (p.Thr1646fs)
NM_001009944.3(PKD1):c.4947G>A (p.Thr1649=)
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.497T>C (p.Leu166Pro)
NM_001009944.3(PKD1):c.4981A>G (p.Asn1661Asp)
NM_001009944.3(PKD1):c.4981_4983del (p.Asn1661del)
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile) rs766683298
NM_001009944.3(PKD1):c.4995C>G (p.Ser1665Arg)
NM_001009944.3(PKD1):c.5006G>A (p.Trp1669Ter)
NM_001009944.3(PKD1):c.5012_5017del (p.Asp1671_Arg1672del)
NM_001009944.3(PKD1):c.5014delinsGG (p.Arg1672fs)
NM_001009944.3(PKD1):c.5018del (p.Gly1673fs) rs1596556800
NM_001009944.3(PKD1):c.5031C>T (p.Ala1677=)
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=) rs144091742
NM_001009944.3(PKD1):c.5042A>G (p.Lys1681Arg)
NM_001009944.3(PKD1):c.5078A>C (p.Tyr1693Ser)
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5099C>G (p.Thr1700Ser)
NM_001009944.3(PKD1):c.5116G>C (p.Ala1706Pro)
NM_001009944.3(PKD1):c.5122G>A (p.Ala1708Thr)
NM_001009944.3(PKD1):c.5130_5146dup (p.Glu1716fs)
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.515_516dup (p.Asp173fs)
NM_001009944.3(PKD1):c.516G>C (p.Leu172=)
NM_001009944.3(PKD1):c.5178C>T (p.Ser1726=)
NM_001009944.3(PKD1):c.5179C>G (p.Pro1727Ala)
NM_001009944.3(PKD1):c.5186C>T (p.Pro1729Leu)
NM_001009944.3(PKD1):c.5194G>A (p.Val1732Ile)
NM_001009944.3(PKD1):c.5210C>T (p.Thr1737Ile)
NM_001009944.3(PKD1):c.521G>C (p.Ser174Thr)
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter) rs2092456617
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)
NM_001009944.3(PKD1):c.5321C>A (p.Pro1774His)
NM_001009944.3(PKD1):c.5330A>C (p.His1777Pro)
NM_001009944.3(PKD1):c.5339C>T (p.Thr1780Ile)
NM_001009944.3(PKD1):c.5341A>G (p.Met1781Val)
NM_001009944.3(PKD1):c.5346G>A (p.Thr1782=)
NM_001009944.3(PKD1):c.5347G>A (p.Ala1783Thr)
NM_001009944.3(PKD1):c.5351G>A (p.Gly1784Glu)
NM_001009944.3(PKD1):c.5357C>A (p.Pro1786Gln)
NM_001009944.3(PKD1):c.5362G>C (p.Gly1788Arg)
NM_001009944.3(PKD1):c.5369C>T (p.Ala1790Val)
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter) rs2092452489
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)
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)
NM_001009944.3(PKD1):c.5497A>C (p.Thr1833Pro)
NM_001009944.3(PKD1):c.5508C>G (p.Ser1836Arg)
NM_001009944.3(PKD1):c.550C>G (p.Leu184Val)
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.5515T>A (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5530G>C (p.Gly1844Arg)
NM_001009944.3(PKD1):c.5549del (p.Pro1850fs)
NM_001009944.3(PKD1):c.554C>T (p.Pro185Leu)
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.5554G>A (p.Val1852Ile)
NM_001009944.3(PKD1):c.5558C>T (p.Thr1853Ile)
NM_001009944.3(PKD1):c.5569C>T (p.Pro1857Ser)
NM_001009944.3(PKD1):c.5571G>A (p.Pro1857=)
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)
NM_001009944.3(PKD1):c.5609A>T (p.Asn1870Ile)
NM_001009944.3(PKD1):c.5613dup (p.Val1872fs)
NM_001009944.3(PKD1):c.5620T>G (p.Trp1874Gly)
NM_001009944.3(PKD1):c.5637C>G (p.Tyr1879Ter)
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) rs1304952446
NM_001009944.3(PKD1):c.5699C>T (p.Ala1900Val)
NM_001009944.3(PKD1):c.5707delinsGA (p.Gln1903fs)
NM_001009944.3(PKD1):c.5712G>T (p.Leu1904=)
NM_001009944.3(PKD1):c.5713del (p.Val1905fs)
NM_001009944.3(PKD1):c.5715C>G (p.Val1905=)
NM_001009944.3(PKD1):c.5731C>G (p.Leu1911Val)
NM_001009944.3(PKD1):c.5740G>A (p.Gly1914Ser)
NM_001009944.3(PKD1):c.5756del (p.Phe1919fs)
NM_001009944.3(PKD1):c.5758C>G (p.Arg1920Gly)
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.5778_5784del (p.Asn1927fs)
NM_001009944.3(PKD1):c.5782C>G (p.Pro1928Ala)
NM_001009944.3(PKD1):c.5791C>T (p.Leu1931Phe)
NM_001009944.3(PKD1):c.5792T>C (p.Leu1931Pro)
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.5812C>T (p.His1938Tyr)
NM_001009944.3(PKD1):c.5836C>T (p.His1946Tyr)
NM_001009944.3(PKD1):c.5839G>A (p.Val1947Met)
NM_001009944.3(PKD1):c.5848G>C (p.Val1950Leu)
NM_001009944.3(PKD1):c.5857A>G (p.Lys1953Glu)
NM_001009944.3(PKD1):c.5866G>A (p.Val1956Met)
NM_001009944.3(PKD1):c.5871C>G (p.Ser1957Arg)
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.587C>T (p.Ser196Phe)
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.5893A>G (p.Ile1965Val)
NM_001009944.3(PKD1):c.5895dup (p.Val1966fs)
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5929C>T (p.Pro1977Ser)
NM_001009944.3(PKD1):c.5936G>T (p.Cys1979Phe)
NM_001009944.3(PKD1):c.5941G>A (p.Glu1981Lys)
NM_001009944.3(PKD1):c.5958G>A (p.Thr1986=)
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.5972A>G (p.Asn1991Ser)
NM_001009944.3(PKD1):c.5993G>A (p.Arg1998His)
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.5995G>T (p.Gly1999Cys)
NM_001009944.3(PKD1):c.6004G>A (p.Val2002Ile)
NM_001009944.3(PKD1):c.6005T>A (p.Val2002Asp)
NM_001009944.3(PKD1):c.6012C>A (p.Tyr2004Ter)
NM_001009944.3(PKD1):c.601dup (p.His201fs) rs2151824362
NM_001009944.3(PKD1):c.6024C>G (p.Phe2008Leu)
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.603C>G (p.His201Gln) rs13334842
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter) rs2151790199
NM_001009944.3(PKD1):c.6070C>T (p.Arg2024Cys)
NM_001009944.3(PKD1):c.6090del (p.Val2031fs)
NM_001009944.3(PKD1):c.6091_6136del (p.Val2031fs)
NM_001009944.3(PKD1):c.6098C>T (p.Ala2033Val)
NM_001009944.3(PKD1):c.6102del (p.Leu2035fs)
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6119T>G (p.Val2040Gly)
NM_001009944.3(PKD1):c.6132C>A (p.Asn2044Lys)
NM_001009944.3(PKD1):c.6145G>C (p.Glu2049Gln)
NM_001009944.3(PKD1):c.6148A>T (p.Asn2050Tyr)
NM_001009944.3(PKD1):c.6152G>A (p.Arg2051His)
NM_001009944.3(PKD1):c.6157C>G (p.Leu2053Val)
NM_001009944.3(PKD1):c.6167_6169dup (p.Glu2056_Val2057insGlu)
NM_001009944.3(PKD1):c.6178G>A (p.Ala2060Thr)
NM_001009944.3(PKD1):c.6179C>G (p.Ala2060Gly) rs753999046
NM_001009944.3(PKD1):c.6192G>T (p.Val2064=)
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6208C>T (p.Pro2070Ser)
NM_001009944.3(PKD1):c.6212G>C (p.Cys2071Ser)
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=) rs886038370
NM_001009944.3(PKD1):c.6227C>T (p.Ser2076Leu)
NM_001009944.3(PKD1):c.6230C>T (p.Ala2077Val)
NM_001009944.3(PKD1):c.6232C>T (p.Gln2078Ter)
NM_001009944.3(PKD1):c.6233A>G (p.Gln2078Arg)
NM_001009944.3(PKD1):c.6237dup (p.Glu2080Ter)
NM_001009944.3(PKD1):c.6245C>T (p.Ala2082Val)
NM_001009944.3(PKD1):c.6250_6252del (p.Ser2084del)
NM_001009944.3(PKD1):c.6254C>G (p.Pro2085Arg)
NM_001009944.3(PKD1):c.6256_6262dup (p.Arg2088fs)
NM_001009944.3(PKD1):c.6263G>C (p.Arg2088Pro)
NM_001009944.3(PKD1):c.6266G>A (p.Arg2089His)
NM_001009944.3(PKD1):c.6272C>T (p.Ala2091Val)
NM_001009944.3(PKD1):c.6278A>G (p.His2093Arg)
NM_001009944.3(PKD1):c.6280T>G (p.Trp2094Gly)
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser) rs1596552090
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs) rs2151824295
NM_001009944.3(PKD1):c.6292G>A (p.Asp2098Asn)
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly) rs2151788839
NM_001009944.3(PKD1):c.6293A>T (p.Asp2098Val)
NM_001009944.3(PKD1):c.6298_6299delinsCT (p.Ser2100Leu)
NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr) rs2092673697
NM_001009944.3(PKD1):c.6301C>T (p.Pro2101Ser)
NM_001009944.3(PKD1):c.6302C>A (p.Pro2101Gln)
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro) rs1596551934
NM_001009944.3(PKD1):c.6346A>T (p.Arg2116Trp)
NM_001009944.3(PKD1):c.6361C>A (p.Arg2121Ser)
NM_001009944.3(PKD1):c.6370G>T (p.Val2124Leu)
NM_001009944.3(PKD1):c.6377C>T (p.Ala2126Val)
NM_001009944.3(PKD1):c.6383A>C (p.Asn2128Thr)
NM_001009944.3(PKD1):c.6384C>A (p.Asn2128Lys)
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys) rs1247882278
NM_001009944.3(PKD1):c.6400G>A (p.Val2134Met)
NM_001009944.3(PKD1):c.6404_6415del (p.Ala2135_Thr2138del)
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) rs2092425533
NM_001009944.3(PKD1):c.6413C>T (p.Thr2138Met)
NM_001009944.3(PKD1):c.6421G>T (p.Val2141Phe)
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter) rs2151788037
NM_001009944.3(PKD1):c.6457G>A (p.Val2153Met)
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter) rs2092423837
NM_001009944.3(PKD1):c.6485G>A (p.Arg2162Gln)
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.648C>T (p.Ser216=)
NM_001009944.3(PKD1):c.6491C>T (p.Ser2164Leu)
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter) rs1485307916
NM_001009944.3(PKD1):c.6497G>A (p.Arg2166His)
NM_001009944.3(PKD1):c.6497G>T (p.Arg2166Leu)
NM_001009944.3(PKD1):c.6512C>T (p.Ala2171Val)
NM_001009944.3(PKD1):c.6518T>C (p.Val2173Ala)
NM_001009944.3(PKD1):c.6526C>T (p.Arg2176Cys)
NM_001009944.3(PKD1):c.6535G>A (p.Val2179Ile)
NM_001009944.3(PKD1):c.6537del (p.Thr2180fs)
NM_001009944.3(PKD1):c.6545_6603delinsGCTCG (p.Gln2182_Pro2201delinsArgSer)
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6552G>T (p.Glu2184Asp)
NM_001009944.3(PKD1):c.6561G>A (p.Trp2187Ter)
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)
NM_001009944.3(PKD1):c.6576_6582del (p.Cys2195fs)
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter) rs1567192286
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs) rs1567192229
NM_001009944.3(PKD1):c.6599_6614dup (p.Leu2206fs)
NM_001009944.3(PKD1):c.659del (p.Gly220fs) rs2151824233
NM_001009944.3(PKD1):c.6607C>T (p.Arg2203Cys)
NM_001009944.3(PKD1):c.6608G>A (p.Arg2203His)
NM_001009944.3(PKD1):c.6608G>T (p.Arg2203Leu)
NM_001009944.3(PKD1):c.6611_6612del (p.Val2204fs)
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.6631G>A (p.Val2211Met)
NM_001009944.3(PKD1):c.6644G>A (p.Arg2215Gln)
NM_001009944.3(PKD1):c.664G>A (p.Ala222Thr)
NM_001009944.3(PKD1):c.664G>C (p.Ala222Pro)
NM_001009944.3(PKD1):c.6656C>G (p.Pro2219Arg)
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.6656del (p.Pro2219fs)
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu) rs1567218284
NM_001009944.3(PKD1):c.6677G>A (p.Gly2226Glu)
NM_001009944.3(PKD1):c.667G>C (p.Ala223Pro)
NM_001009944.3(PKD1):c.6683A>C (p.Tyr2228Ser)
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6693_6694del (p.Phe2232fs)
NM_001009944.3(PKD1):c.6709G>C (p.Gly2237Arg)
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter) rs1567191609
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6729G>C (p.Gln2243His)
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.6733A>T (p.Ile2245Phe)
NM_001009944.3(PKD1):c.6734_6737del (p.Ile2245fs)
NM_001009944.3(PKD1):c.6735C>G (p.Ile2245Met)
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.673_674del (p.Ser225fs)
NM_001009944.3(PKD1):c.674C>G (p.Ser225Trp)
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.6755C>T (p.Ala2252Val)
NM_001009944.3(PKD1):c.6759del (p.Glu2254fs)
NM_001009944.3(PKD1):c.675G>C (p.Ser225=)
NM_001009944.3(PKD1):c.6760G>A (p.Glu2254Lys)
NM_001009944.3(PKD1):c.6763C>T (p.Arg2255Cys)
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del)
NM_001009944.3(PKD1):c.6786del (p.Gly2263fs)
NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.6797G>A (p.Arg2266His)
NM_001009944.3(PKD1):c.6802_6803del (p.Trp2268fs)
NM_001009944.3(PKD1):c.6803G>A (p.Trp2268Ter)
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6810C>G (p.Asp2270Glu)
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
NM_001009944.3(PKD1):c.6815G>A (p.Arg2272Gln)
NM_001009944.3(PKD1):c.6830A>T (p.Asp2277Val)
NM_001009944.3(PKD1):c.6837C>T (p.Ser2279=)
NM_001009944.3(PKD1):c.6859G>T (p.Glu2287Ter)
NM_001009944.3(PKD1):c.6867C>T (p.Gly2289=)
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter) rs755591790
NM_001009944.3(PKD1):c.6881T>C (p.Leu2294Pro)
NM_001009944.3(PKD1):c.6890A>C (p.His2297Pro)
NM_001009944.3(PKD1):c.6892T>G (p.Trp2298Gly)
NM_001009944.3(PKD1):c.689G>T (p.Cys230Phe)
NM_001009944.3(PKD1):c.68C>G (p.Ala23Gly)
NM_001009944.3(PKD1):c.68C>T (p.Ala23Val)
NM_001009944.3(PKD1):c.6900T>A (p.Cys2300Ter)
NM_001009944.3(PKD1):c.6915+1G>A rs2151785467
NM_001009944.3(PKD1):c.6915+3C>G
NM_001009944.3(PKD1):c.6916-10C>T
NM_001009944.3(PKD1):c.6916-5T>A
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.6925G>T (p.Gly2309Cys)
NM_001009944.3(PKD1):c.692T>C (p.Leu231Pro)
NM_001009944.3(PKD1):c.6932G>A (p.Cys2311Tyr)
NM_001009944.3(PKD1):c.6935C>G (p.Ala2312Gly)
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg) rs2151824152
NM_001009944.3(PKD1):c.6952C>T (p.Arg2318Cys) rs768275494
NM_001009944.3(PKD1):c.6979C>G (p.Arg2327Gly)
NM_001009944.3(PKD1):c.6980G>A (p.Arg2327Gln)
NM_001009944.3(PKD1):c.6985C>T (p.Arg2329Trp)
NM_001009944.3(PKD1):c.6986G>A (p.Arg2329Gln)
NM_001009944.3(PKD1):c.6992C>A (p.Ala2331Glu)
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7004dup (p.Tyr2336fs)
NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys) rs2151783812
NM_001009944.3(PKD1):c.7010C>G (p.Thr2337Ser)
NM_001009944.3(PKD1):c.7012T>C (p.Phe2338Leu)
NM_001009944.3(PKD1):c.7024G>A (p.Val2342Met)
NM_001009944.3(PKD1):c.7036G>A (p.Gly2346Ser)
NM_001009944.3(PKD1):c.7037G>T (p.Gly2346Val)
NM_001009944.3(PKD1):c.7040G>A (p.Arg2347His)
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs) rs1596548114
NM_001009944.3(PKD1):c.704C>G (p.Ala235Gly)
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter) rs2092400157
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001009944.3(PKD1):c.7065+2T>C
NM_001009944.3(PKD1):c.7065+2del
NM_001009944.3(PKD1):c.7066-2A>G
NM_001009944.3(PKD1):c.7081G>T (p.Gly2361Cys)
NM_001009944.3(PKD1):c.7089G>A (p.Val2363=)
NM_001009944.3(PKD1):c.7108T>A (p.Cys2370Ser)
NM_001009944.3(PKD1):c.7109G>A (p.Cys2370Tyr)
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr)
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7127A>G (p.Gln2376Arg)
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7159G>A (p.Val2387Met)
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7175G>C (p.Arg2392Pro)
NM_001009944.3(PKD1):c.7184A>G (p.Asn2395Ser)
NM_001009944.3(PKD1):c.7184dup (p.Asn2395fs)
NM_001009944.3(PKD1):c.7187G>A (p.Cys2396Tyr)
NM_001009944.3(PKD1):c.7196G>A (p.Gly2399Asp)
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7205G>A (p.Arg2402Gln)
NM_001009944.3(PKD1):c.7209+14G>A
NM_001009944.3(PKD1):c.7209+1G>A
NM_001009944.3(PKD1):c.7209+4_7209+7del
NM_001009944.3(PKD1):c.7211G>C (p.Arg2404Pro)
NM_001009944.3(PKD1):c.7220C>T (p.Ala2407Val)
NM_001009944.3(PKD1):c.7222C>G (p.Arg2408Gly)
NM_001009944.3(PKD1):c.7223G>A (p.Arg2408His)
NM_001009944.3(PKD1):c.7223del (p.Arg2408fs)
NM_001009944.3(PKD1):c.7233C>G (p.Ser2411Arg)
NM_001009944.3(PKD1):c.7237_7238del (p.Lys2413fs)
NM_001009944.3(PKD1):c.7250T>C (p.Leu2417Pro)
NM_001009944.3(PKD1):c.7253A>T (p.Asp2418Val)
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) rs1555453207
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7307_7318del (p.Gly2436_Arg2439del)
NM_001009944.3(PKD1):c.7315C>T (p.Arg2439Trp)
NM_001009944.3(PKD1):c.731G>A (p.Cys244Tyr)
NM_001009944.3(PKD1):c.7323C>T (p.Gly2441=)
NM_001009944.3(PKD1):c.7327G>A (p.Gly2443Arg)
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=) rs573611925
NM_001009944.3(PKD1):c.7343T>G (p.Leu2448Arg)
NM_001009944.3(PKD1):c.7347G>A (p.Thr2449=)
NM_001009944.3(PKD1):c.7357C>T (p.Arg2453Cys)
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del) rs1391744174
NM_001009944.3(PKD1):c.736T>G (p.Ser246Ala)
NM_001009944.3(PKD1):c.737C>T (p.Ser246Phe)
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu) rs539143745
NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)
NM_001009944.3(PKD1):c.7447G>A (p.Ala2483Thr)
NM_001009944.3(PKD1):c.744C>G (p.Cys248Trp)
NM_001009944.3(PKD1):c.7466C>G (p.Thr2489Ser)
NM_001009944.3(PKD1):c.7469dup (p.Val2491fs)
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys)
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg) rs2092338268
NM_001009944.3(PKD1):c.7487del (p.Thr2496fs)
NM_001009944.3(PKD1):c.7489+12C>T
NM_001009944.3(PKD1):c.7489+5G>A rs2092337963
NM_001009944.3(PKD1):c.7489+8C>T
NM_001009944.3(PKD1):c.7490-11C>G
NM_001009944.3(PKD1):c.7490-13G>T
NM_001009944.3(PKD1):c.7490-16G>A
NM_001009944.3(PKD1):c.7490-1G>A
NM_001009944.3(PKD1):c.7490-1G>C
NM_001009944.3(PKD1):c.7490-9G>A
NM_001009944.3(PKD1):c.7496A>G (p.His2499Arg)
NM_001009944.3(PKD1):c.74del (p.Gly25fs)
NM_001009944.3(PKD1):c.74dup (p.Gly27fs)
NM_001009944.3(PKD1):c.7516G>A (p.Ala2506Thr)
NM_001009944.3(PKD1):c.7517C>T (p.Ala2506Val)
NM_001009944.3(PKD1):c.7543C>T (p.Arg2515Trp)
NM_001009944.3(PKD1):c.7544G>A (p.Arg2515Gln)
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly) rs797044902
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His) rs781066020
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter) rs2151772321
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.755C>T (p.Pro252Leu)
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del) rs1555452876
NM_001009944.3(PKD1):c.7590C>T (p.Gly2530=)
NM_001009944.3(PKD1):c.7591dup (p.Ser2531fs)
NM_001009944.3(PKD1):c.7615C>G (p.Leu2539Val)
NM_001009944.3(PKD1):c.7622dup (p.Arg2544fs)
NM_001009944.3(PKD1):c.7623G>A (p.Pro2541=)
NM_001009944.3(PKD1):c.7633C>T (p.Pro2545Ser)
NM_001009944.3(PKD1):c.7637A>G (p.His2546Arg)
NM_001009944.3(PKD1):c.7650C>T (p.Gly2550=)
NM_001009944.3(PKD1):c.7657G>A (p.Val2553Met)
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7672C>T (p.Gln2558Ter)
NM_001009944.3(PKD1):c.7684G>A (p.Ala2562Thr)
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly) rs2092327341
NM_001009944.3(PKD1):c.7703+2T>A
NM_001009944.3(PKD1):c.7703+5G>C
NM_001009944.3(PKD1):c.7709T>C (p.Leu2570Ser)
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val) rs1555452734
NM_001009944.3(PKD1):c.771del (p.Thr258fs)
NM_001009944.3(PKD1):c.7730C>A (p.Pro2577His)
NM_001009944.3(PKD1):c.7735G>A (p.Gly2579Ser)
NM_001009944.3(PKD1):c.7738A>C (p.Ser2580Arg)
NM_001009944.3(PKD1):c.7738A>G (p.Ser2580Gly)
NM_001009944.3(PKD1):c.7784T>A (p.Val2595Glu)
NM_001009944.3(PKD1):c.7795del (p.Leu2599fs)
NM_001009944.3(PKD1):c.7807G>T (p.Ala2603Ser)
NM_001009944.3(PKD1):c.7817del (p.Gln2606fs)
NM_001009944.3(PKD1):c.7827del (p.Ile2609fs)
NM_001009944.3(PKD1):c.7832_7835dup (p.Ala2614fs)
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del)
NM_001009944.3(PKD1):c.7844_7851del (p.Leu2615fs)
NM_001009944.3(PKD1):c.7845G>A (p.Leu2615=)
NM_001009944.3(PKD1):c.7849A>G (p.Thr2617Ala)
NM_001009944.3(PKD1):c.7859dup (p.Asn2620fs)
NM_001009944.3(PKD1):c.7863+1G>A
NM_001009944.3(PKD1):c.7864-1G>A
NM_001009944.3(PKD1):c.7864-2A>T
NM_001009944.3(PKD1):c.788C>A (p.Thr263Asn)
NM_001009944.3(PKD1):c.7892_7911del (p.Glu2631fs)
NM_001009944.3(PKD1):c.7894C>T (p.Pro2632Ser)
NM_001009944.3(PKD1):c.7907G>T (p.Arg2636Leu)
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7919C>T (p.Ala2640Val)
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7951G>T (p.Val2651Leu)
NM_001009944.3(PKD1):c.7951del (p.Val2651fs) rs2151766847
NM_001009944.3(PKD1):c.7955C>G (p.Ser2652Cys)
NM_001009944.3(PKD1):c.796C>T (p.Gln266Ter)
NM_001009944.3(PKD1):c.7973dup (p.Asp2659fs)
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=) rs537012440
NM_001009944.3(PKD1):c.7996G>A (p.Ala2666Thr)
NM_001009944.3(PKD1):c.8000C>T (p.Ala2667Val)
NM_001009944.3(PKD1):c.8006C>T (p.Ala2669Val)
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter) rs2092301272
NM_001009944.3(PKD1):c.8016+1G>A
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8016+5G>T
NM_001009944.3(PKD1):c.8017-10C>T
NM_001009944.3(PKD1):c.8018_8019del
NM_001009944.3(PKD1):c.8024G>C (p.Ser2675Thr)
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile) rs1269793804
NM_001009944.3(PKD1):c.8032C>T (p.Leu2678Phe)
NM_001009944.3(PKD1):c.8035G>A (p.Val2679Ile)
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs) rs2092262890
NM_001009944.3(PKD1):c.8054_8055delinsC (p.Lys2685fs)
NM_001009944.3(PKD1):c.8065C>T (p.His2689Tyr)
NM_001009944.3(PKD1):c.8072T>A (p.Leu2691Gln)
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter) rs1222094213
NM_001009944.3(PKD1):c.8110G>T (p.Ala2704Ser)
NM_001009944.3(PKD1):c.8115C>T (p.Gly2705=)
NM_001009944.3(PKD1):c.8117C>T (p.Thr2706Ile)
NM_001009944.3(PKD1):c.8125C>T (p.Pro2709Ser)
NM_001009944.3(PKD1):c.8131G>A (p.Ala2711Thr)
NM_001009944.3(PKD1):c.8137G>A (p.Gly2713Arg)
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu) rs1395231369
NM_001009944.3(PKD1):c.8150delinsATCCG (p.Leu2717fs)
NM_001009944.3(PKD1):c.8161+2_8161+3delinsGT
NM_001009944.3(PKD1):c.8161+6G>T
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8171T>A (p.Ile2724Asn)
NM_001009944.3(PKD1):c.8172C>T (p.Ile2724=)
NM_001009944.3(PKD1):c.8183G>T (p.Ser2728Ile)
NM_001009944.3(PKD1):c.8186C>A (p.Ser2729Ter)
NM_001009944.3(PKD1):c.8197G>C (p.Ala2733Pro)
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.8222C>G (p.Ala2741Gly)
NM_001009944.3(PKD1):c.8239A>G (p.Met2747Val)
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs) rs1596527579
NM_001009944.3(PKD1):c.8240T>C (p.Met2747Thr)
NM_001009944.3(PKD1):c.8242G>C (p.Val2748Leu)
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter) rs2092205600
NM_001009944.3(PKD1):c.825del (p.Thr276fs)
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer) rs2151756041
NM_001009944.3(PKD1):c.8273C>T (p.Ala2758Val)
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222
NM_001009944.3(PKD1):c.827C>G (p.Thr276Ser)
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro) rs145629362
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8288T>C (p.Leu2763Pro)
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8299C>G (p.Arg2767Gly)
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8299_8310del (p.Arg2767_Asn2770del)
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu) rs1456510041
NM_001009944.3(PKD1):c.8302_8305del (p.Val2768fs)
NM_001009944.3(PKD1):c.8304_8326del (p.Leu2769fs)
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs) rs2092202856
NM_001009944.3(PKD1):c.8337_8366delinsTC (p.Glu2779fs)
NM_001009944.3(PKD1):c.8343del (p.Ile2781fs)
NM_001009944.3(PKD1):c.8354G>A (p.Gly2785Asp)
NM_001009944.3(PKD1):c.8359C>G (p.Arg2787Gly)
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp) rs761060813
NM_001009944.3(PKD1):c.8363C>T (p.Ser2788Leu)
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs) rs1057518604
NM_001009944.3(PKD1):c.8378T>C (p.Leu2793Pro)
NM_001009944.3(PKD1):c.8382_8386del (p.Cys2795fs)
NM_001009944.3(PKD1):c.8398C>T (p.Pro2800Ser)
NM_001009944.3(PKD1):c.8407G>C (p.Gly2803Arg)
NM_001009944.3(PKD1):c.8408G>A (p.Gly2803Asp)
NM_001009944.3(PKD1):c.8408_8409delinsT (p.Gly2803fs)
NM_001009944.3(PKD1):c.8426C>A (p.Pro2809His)
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter)
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=) rs886038371
NM_001009944.3(PKD1):c.8447T>A (p.Leu2816Gln)
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8457_8458del (p.Leu2819_Ser2820insTer)
NM_001009944.3(PKD1):c.846_852del (p.Ser286_Gly287insTer)
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_001009944.3(PKD1):c.8487G>A (p.Val2829=)
NM_001009944.3(PKD1):c.8491dup (p.Ser2831fs)
NM_001009944.3(PKD1):c.8498C>T (p.Pro2833Leu)
NM_001009944.3(PKD1):c.8503C>T (p.Pro2835Ser)
NM_001009944.3(PKD1):c.8523C>G (p.Asn2841Lys)
NM_001009944.3(PKD1):c.8524dup (p.Tyr2842fs)
NM_001009944.3(PKD1):c.8534CCA[3] (p.Thr2846_Lys2847insThr)
NM_001009944.3(PKD1):c.8549C>T (p.Ser2850Leu)
NM_001009944.3(PKD1):c.8553G>A (p.Met2851Ile)
NM_001009944.3(PKD1):c.8554G>C (p.Ala2852Pro)
NM_001009944.3(PKD1):c.8558T>C (p.Phe2853Ser)
NM_001009944.3(PKD1):c.8559C>G (p.Phe2853Leu)
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.8566C>T (p.Gln2856Ter)
NM_001009944.3(PKD1):c.8569G>A (p.Ala2857Thr)
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.856_862dup (p.Gln288fs)
NM_001009944.3(PKD1):c.8584C>T (p.Pro2862Ser)
NM_001009944.3(PKD1):c.858T>A (p.Ser286=)
NM_001009944.3(PKD1):c.8608C>T (p.Arg2870Cys)
NM_001009944.3(PKD1):c.8634C>G (p.Asn2878Lys)
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
NM_001009944.3(PKD1):c.8653C>T (p.Arg2885Trp)
NM_001009944.3(PKD1):c.8657_8661del (p.Gly2886fs)
NM_001009944.3(PKD1):c.8661C>G (p.His2887Gln)
NM_001009944.3(PKD1):c.8669C>A (p.Ser2890Tyr)
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.8684A>T (p.Asn2895Ile)
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.8699A>T (p.Gln2900Leu)
NM_001009944.3(PKD1):c.8703_8704del (p.Gln2902fs)
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8705A>C (p.Gln2902Pro)
NM_001009944.3(PKD1):c.8705A>G (p.Gln2902Arg)
NM_001009944.3(PKD1):c.8707G>T (p.Ala2903Ser)
NM_001009944.3(PKD1):c.8708C>T (p.Ala2903Val)
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs) rs2151754069
NM_001009944.3(PKD1):c.8725G>A (p.Val2909Ile)
NM_001009944.3(PKD1):c.8747C>T (p.Pro2916Leu)
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter) rs747638599
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)
NM_001009944.3(PKD1):c.8791+5G>A rs751652400
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
NM_001009944.3(PKD1):c.8795A>T (p.His2932Leu)
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys) rs2151752267
NM_001009944.3(PKD1):c.8834A>G (p.Tyr2945Cys)
NM_001009944.3(PKD1):c.884C>A (p.Ala295Asp)
NM_001009944.3(PKD1):c.8864A>G (p.His2955Arg)
NM_001009944.3(PKD1):c.8867A>G (p.Asn2956Ser)
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter) rs750780241
NM_001009944.3(PKD1):c.8879_8880delinsTT (p.Ser2960Ile)
NM_001009944.3(PKD1):c.8890C>T (p.Arg2964Cys)
NM_001009944.3(PKD1):c.8891G>T (p.Arg2964Leu)
NM_001009944.3(PKD1):c.8894C>T (p.Pro2965Leu)
NM_001009944.3(PKD1):c.8909G>C (p.Gly2970Ala)
NM_001009944.3(PKD1):c.8909del (p.Gly2970fs)
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg) rs757527492
NM_001009944.3(PKD1):c.8920C>G (p.Arg2974Gly)
NM_001009944.3(PKD1):c.8921G>A (p.Arg2974Gln)
NM_001009944.3(PKD1):c.8930C>T (p.Thr2977Ile)
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser) rs1596523677
NM_001009944.3(PKD1):c.8936T>C (p.Phe2979Ser)
NM_001009944.3(PKD1):c.8945dup (p.Ser2984fs)
NM_001009944.3(PKD1):c.8948+1del
NM_001009944.3(PKD1):c.8949G>A (p.Gly2983=)
NM_001009944.3(PKD1):c.8953A>G (p.Arg2985Gly)
NM_001009944.3(PKD1):c.8956G>C (p.Asp2986His)
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.8971T>G (p.Tyr2991Asp)
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter) rs1567174997
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter) rs1596522636
NM_001009944.3(PKD1):c.8973_8975del (p.His2992del)
NM_001009944.3(PKD1):c.8978T>A (p.Leu2993Gln)
NM_001009944.3(PKD1):c.898G>A (p.Val300Ile)
NM_001009944.3(PKD1):c.8998C>G (p.Arg3000Gly)
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.9003G>A (p.Trp3001Ter)
NM_001009944.3(PKD1):c.9005C>T (p.Ser3002Leu)
NM_001009944.3(PKD1):c.9016G>C (p.Val3006Leu)
NM_001009944.3(PKD1):c.9019T>A (p.Ser3007Thr)
NM_001009944.3(PKD1):c.9020C>T (p.Ser3007Phe)
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.902C>T (p.Thr301Ile)
NM_001009944.3(PKD1):c.9031T>A (p.Tyr3011Asn)
NM_001009944.3(PKD1):c.9034A>G (p.Thr3012Ala)
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro) rs2151750096
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg) rs2151750082
NM_001009944.3(PKD1):c.9072G>A (p.Val3024=)
NM_001009944.3(PKD1):c.9074G>C (p.Trp3025Ser)
NM_001009944.3(PKD1):c.9075G>A (p.Trp3025Ter)
NM_001009944.3(PKD1):c.9105G>T (p.Glu3035Asp)
NM_001009944.3(PKD1):c.910C>G (p.Arg304Gly) rs543328728
NM_001009944.3(PKD1):c.9111_9132del (p.Arg3039fs)
NM_001009944.3(PKD1):c.9112C>A (p.Pro3038Thr)
NM_001009944.3(PKD1):c.9112C>T (p.Pro3038Ser)
NM_001009944.3(PKD1):c.9115C>T (p.Arg3039Cys)
NM_001009944.3(PKD1):c.9142C>T (p.Leu3048Phe)
NM_001009944.3(PKD1):c.9154G>A (p.Gly3052Ser)
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val) rs769436046
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9178dup (p.Ser3060fs)
NM_001009944.3(PKD1):c.9182A>G (p.His3061Arg)
NM_001009944.3(PKD1):c.9184G>C (p.Val3062Leu)
NM_001009944.3(PKD1):c.9186C>A (p.Val3062=)
NM_001009944.3(PKD1):c.9188G>C (p.Arg3063Pro)
NM_001009944.3(PKD1):c.9195_9199delinsCCTT (p.Phe3066fs)
NM_001009944.3(PKD1):c.9200C>G (p.Pro3067Arg)
NM_001009944.3(PKD1):c.9201+1G>A rs2151749304
NM_001009944.3(PKD1):c.9201+4A>G
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9201T>G (p.Pro3067=)
NM_001009944.3(PKD1):c.9202-13T>A
NM_001009944.3(PKD1):c.9202-3C>A
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9262_9263insGT (p.Tyr3088fs)
NM_001009944.3(PKD1):c.9262dup (p.Tyr3088fs)
NM_001009944.3(PKD1):c.9264del (p.Thr3087_Tyr3088insTer)
NM_001009944.3(PKD1):c.9265A>G (p.Met3089Val)
NM_001009944.3(PKD1):c.928G>A (p.Gly310Ser)
NM_001009944.3(PKD1):c.9296del (p.Asp3099fs)
NM_001009944.3(PKD1):c.9302T>A (p.Leu3101Ter)
NM_001009944.3(PKD1):c.9329C>G (p.Pro3110Arg)
NM_001009944.3(PKD1):c.932_960del (p.Ser311fs)
NM_001009944.3(PKD1):c.9334T>C (p.Cys3112Arg) rs1405051804
NM_001009944.3(PKD1):c.934G>C (p.Ala312Pro)
NM_001009944.3(PKD1):c.9368T>A (p.Leu3123His)
NM_001009944.3(PKD1):c.9395C>G (p.Ser3132Ter)
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9398G>A (p.Gly3133Asp)
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu) rs1358566538
NM_001009944.3(PKD1):c.9413T>A (p.Val3138Glu)
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9431G>A (p.Gly3144Glu)
NM_001009944.3(PKD1):c.9451del (p.His3151fs)
NM_001009944.3(PKD1):c.9461T>C (p.Leu3154Pro)
NM_001009944.3(PKD1):c.946G>A (p.Ala316Thr)
NM_001009944.3(PKD1):c.9481C>T (p.His3161Tyr)
NM_001009944.3(PKD1):c.9485G>A (p.Arg3162His)
NM_001009944.3(PKD1):c.9504C>G (p.Phe3168Leu)
NM_001009944.3(PKD1):c.9512C>T (p.Ala3171Val) rs2092048001
NM_001009944.3(PKD1):c.9522del (p.His3174fs)
NM_001009944.3(PKD1):c.9535G>A (p.Val3179Met)
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn) rs2092047055
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.9555G>A (p.Trp3185Ter)
NM_001009944.3(PKD1):c.9556C>G (p.His3186Asp)
NM_001009944.3(PKD1):c.9559G>A (p.Asp3187Asn)
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9562A>T (p.Asn3188Tyr)
NM_001009944.3(PKD1):c.9563_9568+2delinsCTCGG
NM_001009944.3(PKD1):c.9569-1G>A
NM_001009944.3(PKD1):c.9588C>G (p.Phe3196Leu)
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter) rs1474701377
NM_001009944.3(PKD1):c.9595_9618del (p.His3199_Gln3206del)
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe) rs1422698524
NM_001009944.3(PKD1):c.9604G>A (p.Val3202Ile)
NM_001009944.3(PKD1):c.9607_9608del (p.Arg3203fs)
NM_001009944.3(PKD1):c.9611A>T (p.Asp3204Val)
NM_001009944.3(PKD1):c.9622G>A (p.Ala3208Thr)
NM_001009944.3(PKD1):c.9654G>A (p.Trp3218Ter)
NM_001009944.3(PKD1):c.9656T>G (p.Leu3219Arg)
NM_001009944.3(PKD1):c.9659C>T (p.Ser3220Leu)
NM_001009944.3(PKD1):c.9660G>A (p.Ser3220=)
NM_001009944.3(PKD1):c.9672G>C (p.Glu3224Asp)
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9678C>G (p.Asn3226Lys)
NM_001009944.3(PKD1):c.9678_9679insA (p.Gly3227fs)
NM_001009944.3(PKD1):c.9682_9683dup (p.Leu3229fs)
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9685C>G (p.Leu3229Val)
NM_001009944.3(PKD1):c.9686del (p.Leu3229fs)
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter) rs2151740638
NM_001009944.3(PKD1):c.9695A>G (p.Lys3232Arg) rs988225678
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val)
NM_001009944.3(PKD1):c.9714C>T (p.Ser3238=)
NM_001009944.3(PKD1):c.9715G>A (p.Asp3239Asn)
NM_001009944.3(PKD1):c.9731G>A (p.Arg3244His)
NM_001009944.3(PKD1):c.9760C>T (p.Gln3254Ter)
NM_001009944.3(PKD1):c.9764G>A (p.Arg3255His)
NM_001009944.3(PKD1):c.9773_9787del (p.Phe3258_Ile3262del)
NM_001009944.3(PKD1):c.9777C>G (p.Asp3259Glu)
NM_001009944.3(PKD1):c.9789G>T (p.Trp3263Cys)
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr)
NM_001009944.3(PKD1):c.97T>C (p.Cys33Arg)
NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp)
NM_001009944.3(PKD1):c.9806G>A (p.Arg3269Gln)
NM_001009944.3(PKD1):c.9818G>C (p.Ser3273Thr)
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs) rs1596512729
NM_001009944.3(PKD1):c.9827C>G (p.Thr3276Ser)
NM_001009944.3(PKD1):c.9832A>G (p.Ile3278Val)
NM_001009944.3(PKD1):c.9834C>G (p.Ile3278Met)
NM_001009944.3(PKD1):c.9835C>T (p.Gln3279Ter)
NM_001009944.3(PKD1):c.9842C>G (p.Ala3281Gly)
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9873C>G (p.Phe3291Leu)
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
NM_001009944.3(PKD1):c.9886dup (p.Ala3296fs)
NM_001009944.3(PKD1):c.989G>A (p.Arg330His)
NM_001009944.3(PKD1):c.9904G>A (p.Val3302Ile)
NM_001009944.3(PKD1):c.9904G>C (p.Val3302Leu)
NM_001009944.3(PKD1):c.9904G>T (p.Val3302Phe)
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)
NM_001009944.3(PKD1):c.9924-1G>C rs2151738493
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487
NM_001009944.3(PKD1):c.9930dup (p.His3311fs)
NM_001009944.3(PKD1):c.9931C>T (p.His3311Tyr)
NM_001009944.3(PKD1):c.994C>T (p.His332Tyr)
NM_001009944.3(PKD1):c.9965C>T (p.Thr3322Ile)
NM_001009944.3(PKD1):c.9983dup (p.Ser3329fs)
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980
NM_001009944.3(PKD1):c.9994G>T (p.Val3332Phe)
NM_001009944.3(PKD1):c.9997G>C (p.Val3333Leu)
NM_003361.4(UMOD):c.1009G>A (p.Ala337Thr)
NM_003361.4(UMOD):c.102A>C (p.Glu34Asp)
NM_003361.4(UMOD):c.1063G>A (p.Asp355Asn)
NM_003361.4(UMOD):c.1069G>T (p.Val357Phe)
NM_003361.4(UMOD):c.1081C>A (p.Leu361Met)
NM_003361.4(UMOD):c.1094G>A (p.Arg365Gln)
NM_003361.4(UMOD):c.1100C>G (p.Ser367Trp) rs138178893
NM_003361.4(UMOD):c.1148C>T (p.Pro383Leu)
NM_003361.4(UMOD):c.114T>C (p.Asn38=) rs766555124
NM_003361.4(UMOD):c.116C>A (p.Ala39Asp) rs762973149
NM_003361.4(UMOD):c.1182+10G>A
NM_003361.4(UMOD):c.1182+5G>A
NM_003361.4(UMOD):c.1183-15del
NM_003361.4(UMOD):c.1183-3C>A
NM_003361.4(UMOD):c.1189G>A (p.Glu397Lys)
NM_003361.4(UMOD):c.1195del (p.His399fs) rs780493255
NM_003361.4(UMOD):c.1198G>A (p.Ala400Thr)
NM_003361.4(UMOD):c.1217T>A (p.Leu406His)
NM_003361.4(UMOD):c.125C>T (p.Thr42Met)
NM_003361.4(UMOD):c.1271C>T (p.Ala424Val)
NM_003361.4(UMOD):c.1285dup (p.Leu429fs)
NM_003361.4(UMOD):c.1312G>T (p.Ala438Ser)
NM_003361.4(UMOD):c.1316T>C (p.Leu439Pro)
NM_003361.4(UMOD):c.1320G>T (p.Gln440His)
NM_003361.4(UMOD):c.1331+7C>T
NM_003361.4(UMOD):c.1332T>A (p.Ser444Arg)
NM_003361.4(UMOD):c.1351G>A (p.Gly451Ser)
NM_003361.4(UMOD):c.1352G>A (p.Gly451Asp)
NM_003361.4(UMOD):c.1364T>G (p.Met455Arg)
NM_003361.4(UMOD):c.1383G>C (p.Ala461=)
NM_003361.4(UMOD):c.139G>A (p.Val47Ile) rs917737950
NM_003361.4(UMOD):c.1402T>C (p.Tyr468His)
NM_003361.4(UMOD):c.1406C>A (p.Thr469Lys)
NM_003361.4(UMOD):c.1411C>G (p.Pro471Ala)
NM_003361.4(UMOD):c.1429G>A (p.Val477Met)
NM_003361.4(UMOD):c.1458C>A (p.Tyr486Ter)
NM_003361.4(UMOD):c.1469T>C (p.Met490Thr)
NM_003361.4(UMOD):c.146C>T (p.Thr49Met)
NM_003361.4(UMOD):c.1475A>G (p.Asp492Gly)
NM_003361.4(UMOD):c.1499C>T (p.Ala500Val)
NM_003361.4(UMOD):c.1507A>C (p.Met503Leu)
NM_003361.4(UMOD):c.151A>C (p.Thr51Pro)
NM_003361.4(UMOD):c.152C>A (p.Thr51Asn)
NM_003361.4(UMOD):c.1544C>T (p.Thr515Met)
NM_003361.4(UMOD):c.1550C>A (p.Pro517His)
NM_003361.4(UMOD):c.1552C>T (p.Leu518=)
NM_003361.4(UMOD):c.1570C>T (p.Gln524Ter)
NM_003361.4(UMOD):c.1577+11G>A rs184055420
NM_003361.4(UMOD):c.1612G>A (p.Val538Met)
NM_003361.4(UMOD):c.165C>T (p.Gly55=) rs1478057939
NM_003361.4(UMOD):c.1672A>G (p.Asn558Asp)
NM_003361.4(UMOD):c.1691T>A (p.Leu564Gln)
NM_003361.4(UMOD):c.1699G>A (p.Glu567Lys)
NM_003361.4(UMOD):c.1701_1715del (p.Glu567_Cys571del)
NM_003361.4(UMOD):c.172G>A (p.Gly58Ser)
NM_003361.4(UMOD):c.172G>T (p.Gly58Cys)
NM_003361.4(UMOD):c.1737G>C (p.Lys579Asn)
NM_003361.4(UMOD):c.1772G>T (p.Ser591Ile)
NM_003361.4(UMOD):c.1780G>A (p.Asp594Asn)
NM_003361.4(UMOD):c.1789C>T (p.Arg597Cys)
NM_003361.4(UMOD):c.1807C>T (p.Pro603Ser)
NM_003361.4(UMOD):c.1811T>G (p.Ile604Ser)
NM_003361.4(UMOD):c.1816C>T (p.Arg606Trp)
NM_003361.4(UMOD):c.1837G>A (p.Val613Ile)
NM_003361.4(UMOD):c.188G>C (p.Cys63Ser)
NM_003361.4(UMOD):c.19A>G (p.Thr7Ala)
NM_003361.4(UMOD):c.200A>G (p.Asp67Gly)
NM_003361.4(UMOD):c.202G>A (p.Glu68Lys) rs1965761636
NM_003361.4(UMOD):c.207C>A (p.Cys69Ter)
NM_003361.4(UMOD):c.230G>C (p.Cys77Ser) rs121917768
NM_003361.4(UMOD):c.248G>A (p.Cys83Tyr)
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp) rs1449715458
NM_003361.4(UMOD):c.254A>T (p.Asn85Ile)
NM_003361.4(UMOD):c.272C>T (p.Ser91Phe)
NM_003361.4(UMOD):c.272_274del (p.Ser91del) rs1965755740
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.286G>A (p.Glu96Lys)
NM_003361.4(UMOD):c.302C>A (p.Ser101Ter)
NM_003361.4(UMOD):c.307G>A (p.Gly103Ser)
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr) rs2141676232
NM_003361.4(UMOD):c.343C>A (p.Pro115Thr)
NM_003361.4(UMOD):c.346G>A (p.Gly116Arg)
NM_003361.4(UMOD):c.358T>C (p.Cys120Arg)
NM_003361.4(UMOD):c.361C>T (p.His121Tyr)
NM_003361.4(UMOD):c.374C>A (p.Thr125Lys)
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg) rs121917769
NM_003361.4(UMOD):c.389T>C (p.Val130Ala)
NM_003361.4(UMOD):c.404G>T (p.Cys135Phe)
NM_003361.4(UMOD):c.424C>T (p.Arg142Trp)
NM_003361.4(UMOD):c.425G>T (p.Arg142Leu)
NM_003361.4(UMOD):c.452C>A (p.Ser151Tyr)
NM_003361.4(UMOD):c.464G>C (p.Cys155Ser)
NM_003361.4(UMOD):c.466G>A (p.Gly156Arg)
NM_003361.4(UMOD):c.481T>C (p.Cys161Arg)
NM_003361.4(UMOD):c.505G>A (p.Val169Met)
NM_003361.4(UMOD):c.510C>G (p.Cys170Trp)
NM_003361.4(UMOD):c.527C>A (p.Ala176Glu)
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del) rs1555487528
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003361.4(UMOD):c.533G>T (p.Arg178Leu)
NM_003361.4(UMOD):c.539T>C (p.Leu180Pro) rs794727496
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys) rs1064796542
NM_003361.4(UMOD):c.553C>G (p.Arg185Gly)
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys) rs1567310155
NM_003361.4(UMOD):c.554G>C (p.Arg185Pro)
NM_003361.4(UMOD):c.555C>T (p.Arg185=) rs866510195
NM_003361.4(UMOD):c.566A>T (p.Tyr189Phe)
NM_003361.4(UMOD):c.567C>G (p.Tyr189Ter)
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly) rs1567310019
NM_003361.4(UMOD):c.611G>A (p.Arg204His)
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
NM_003361.4(UMOD):c.637A>C (p.Met213Leu)
NM_003361.4(UMOD):c.637A>G (p.Met213Val)
NM_003361.4(UMOD):c.643G>A (p.Glu215Lys)
NM_003361.4(UMOD):c.688T>C (p.Trp230Arg)
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.713G>C (p.Ser238Thr)
NM_003361.4(UMOD):c.732C>G (p.Ser244Arg)
NM_003361.4(UMOD):c.733C>T (p.Arg245Cys)
NM_003361.4(UMOD):c.734G>A (p.Arg245His)
NM_003361.4(UMOD):c.745_746delinsTT (p.Ala249Leu)
NM_003361.4(UMOD):c.74A>T (p.Asp25Val)
NM_003361.4(UMOD):c.806G>T (p.Gly269Val)
NM_003361.4(UMOD):c.840C>T (p.Pro280=) rs78691203
NM_003361.4(UMOD):c.854C>A (p.Ala285Glu) rs766919534
NM_003361.4(UMOD):c.860G>A (p.Cys287Tyr)
NM_003361.4(UMOD):c.865+11G>T
NM_003361.4(UMOD):c.867C>A (p.Asp289Glu)
NM_003361.4(UMOD):c.873C>G (p.Ser291Arg)
NM_003361.4(UMOD):c.88+2T>C
NM_003361.4(UMOD):c.889T>C (p.Cys297Arg)
NM_003361.4(UMOD):c.909C>A (p.Asp303Glu)
NM_003361.4(UMOD):c.913G>A (p.Asp305Asn)
NM_003361.4(UMOD):c.93G>T (p.Trp31Cys)
NM_003361.4(UMOD):c.947A>T (p.Gln316Leu)
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly) rs1555487316
NM_003361.4(UMOD):c.951C>A (p.Cys317Ter)
NM_003361.4(UMOD):c.952A>C (p.Lys318Gln)
NM_003361.4(UMOD):c.97T>C (p.Ser33Pro)
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.10099C>T (p.Pro3367Ser)
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro) rs2150962340
NM_138694.4(PKHD1):c.10127C>T (p.Ala3376Val)
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter) rs2150962096
NM_138694.4(PKHD1):c.1013T>C (p.Val338Ala)
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His) rs752841263
NM_138694.4(PKHD1):c.10153G>A (p.Ala3385Thr) rs200762675
NM_138694.4(PKHD1):c.10157-3T>C
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs) rs1057517249
NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu)
NM_138694.4(PKHD1):c.10226A>T (p.Asp3409Val)
NM_138694.4(PKHD1):c.10273C>T (p.Gln3425Ter)
NM_138694.4(PKHD1):c.10291G>T (p.Val3431Leu)
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp) rs756792624
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.10357T>G (p.Ser3453Ala)
NM_138694.4(PKHD1):c.10360G>A (p.Gly3454Arg)
NM_138694.4(PKHD1):c.10376T>C (p.Phe3459Ser)
NM_138694.4(PKHD1):c.10408A>G (p.Lys3470Glu)
NM_138694.4(PKHD1):c.10452del (p.Leu3485fs)
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) rs1581894231
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.10492G>C (p.Val3498Leu)
NM_138694.4(PKHD1):c.1056G>C (p.Trp352Cys)
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=) rs2150414839
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10639del (p.Leu3547fs)
NM_138694.4(PKHD1):c.10646del (p.Gly3549fs)
NM_138694.4(PKHD1):c.10660G>T (p.Glu3554Ter)
NM_138694.4(PKHD1):c.10722del (p.Gly3575fs)
NM_138694.4(PKHD1):c.10724G>A (p.Gly3575Asp)
NM_138694.4(PKHD1):c.10724G>C (p.Gly3575Ala)
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs) rs1195276132
NM_138694.4(PKHD1):c.10780C>T (p.Gln3594Ter)
NM_138694.4(PKHD1):c.10787G>A (p.Arg3596Lys)
NM_138694.4(PKHD1):c.10788G>T (p.Arg3596Ser)
NM_138694.4(PKHD1):c.10817A>T (p.Glu3606Val)
NM_138694.4(PKHD1):c.1081C>T (p.Pro361Ser)
NM_138694.4(PKHD1):c.10820C>A (p.Thr3607Asn)
NM_138694.4(PKHD1):c.10844G>A (p.Arg3615Lys)
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) rs1554183235
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.10861A>C (p.Asn3621His)
NM_138694.4(PKHD1):c.10883C>G (p.Thr3628Ser)
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.10940A>G (p.His3647Arg)
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
NM_138694.4(PKHD1):c.10957delinsTG (p.Met3653fs)
NM_138694.4(PKHD1):c.109T>C (p.Trp37Arg)
NM_138694.4(PKHD1):c.11006C>T (p.Ser3669Leu)
NM_138694.4(PKHD1):c.1100A>G (p.Gln367Arg)
NM_138694.4(PKHD1):c.11074C>G (p.Arg3692Gly)
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
NM_138694.4(PKHD1):c.110G>A (p.Trp37Ter)
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs) rs1554183012
NM_138694.4(PKHD1):c.11165T>C (p.Ile3722Thr)
NM_138694.4(PKHD1):c.11168G>A (p.Gly3723Asp)
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) rs1582038191
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.11261T>C (p.Val3754Ala)
NM_138694.4(PKHD1):c.11264G>A (p.Gly3755Glu)
NM_138694.4(PKHD1):c.11272C>T (p.Leu3758Phe)
NM_138694.4(PKHD1):c.11308C>A (p.Gln3770Lys)
NM_138694.4(PKHD1):c.11310G>C (p.Gln3770His)
NM_138694.4(PKHD1):c.11335C>G (p.Pro3779Ala)
NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)
NM_138694.4(PKHD1):c.11371G>A (p.Glu3791Lys)
NM_138694.4(PKHD1):c.11377G>A (p.Ala3793Thr)
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val) rs1299129734
NM_138694.4(PKHD1):c.1139T>C (p.Phe380Ser)
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter) rs1215290114
NM_138694.4(PKHD1):c.11408dup (p.Ala3804fs) rs2150329535
NM_138694.4(PKHD1):c.11452G>A (p.Val3818Ile)
NM_138694.4(PKHD1):c.11462C>T (p.Ser3821Phe)
NM_138694.4(PKHD1):c.11525G>A (p.Arg3842Gln) rs76572975
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser) rs548244367
NM_138694.4(PKHD1):c.11576T>C (p.Ile3859Thr)
NM_138694.4(PKHD1):c.11608T>C (p.Ser3870Pro)
NM_138694.4(PKHD1):c.1165A>G (p.Thr389Ala)
NM_138694.4(PKHD1):c.11666-2A>G
NM_138694.4(PKHD1):c.11716C>A (p.His3906Asn)
NM_138694.4(PKHD1):c.11717A>G (p.His3906Arg)
NM_138694.4(PKHD1):c.11725A>G (p.Ile3909Val)
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly) rs1561981487
NM_138694.4(PKHD1):c.11785G>A (p.Asp3929Asn)
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr) rs1582024305
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=) rs779069598
NM_138694.4(PKHD1):c.11849T>C (p.Val3950Ala)
NM_138694.4(PKHD1):c.11860A>G (p.Lys3954Glu)
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=) rs2150241037
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter)
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.12008A>G (p.Gln4003Arg)
NM_138694.4(PKHD1):c.12036del (p.Gly4013fs)
NM_138694.4(PKHD1):c.12061_12062delinsAA (p.Cys4021Asn)
NM_138694.4(PKHD1):c.1208G>A (p.Ser403Asn)
NM_138694.4(PKHD1):c.12140C>T (p.Ser4047Phe)
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter) rs745888824
NM_138694.4(PKHD1):c.12187C>T (p.His4063Tyr)
NM_138694.4(PKHD1):c.1223del (p.Pro408fs)
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile) rs138672830
NM_138694.4(PKHD1):c.1255_1256delinsTC (p.Val419Ser)
NM_138694.4(PKHD1):c.1258G>A (p.Gly420Ser)
NM_138694.4(PKHD1):c.1259G>A (p.Gly420Asp)
NM_138694.4(PKHD1):c.1260del (p.Thr421fs)
NM_138694.4(PKHD1):c.126del (p.Phe42fs) rs760586271
NM_138694.4(PKHD1):c.1285G>A (p.Glu429Lys)
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter) rs2128212671
NM_138694.4(PKHD1):c.1300G>T (p.Glu434Ter)
NM_138694.4(PKHD1):c.130G>A (p.Gly44Ser)
NM_138694.4(PKHD1):c.131-13del
NM_138694.4(PKHD1):c.1355A>G (p.Tyr452Cys)
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=) rs1393535530
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1431G>A (p.Trp477Ter)
NM_138694.4(PKHD1):c.1437T>A (p.Asn479Lys)
NM_138694.4(PKHD1):c.143G>T (p.Gly48Val) rs557361225
NM_138694.4(PKHD1):c.1465G>A (p.Glu489Lys)
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup) rs1554217514
NM_138694.4(PKHD1):c.1481G>A (p.Arg494Gln)
NM_138694.4(PKHD1):c.1556A>G (p.Asp519Gly)
NM_138694.4(PKHD1):c.1579C>T (p.Pro527Ser)
NM_138694.4(PKHD1):c.1602+2T>C
NM_138694.4(PKHD1):c.1602+6A>G
NM_138694.4(PKHD1):c.1603-14_1603-13del rs748577508
NM_138694.4(PKHD1):c.1603A>G (p.Ile535Val)
NM_138694.4(PKHD1):c.1609A>G (p.Thr537Ala)
NM_138694.4(PKHD1):c.1623G>C (p.Glu541Asp)
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs) rs777295562
NM_138694.4(PKHD1):c.1639T>C (p.Cys547Arg) rs1562248576
NM_138694.4(PKHD1):c.1658G>A (p.Trp553Ter)
NM_138694.4(PKHD1):c.1701A>C (p.Glu567Asp)
NM_138694.4(PKHD1):c.1702G>T (p.Val568Phe)
NM_138694.4(PKHD1):c.1717G>A (p.Gly573Arg)
NM_138694.4(PKHD1):c.1772C>T (p.Pro591Leu)
NM_138694.4(PKHD1):c.1804C>T (p.Gln602Ter)
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1836+1G>T
NM_138694.4(PKHD1):c.1836C>T (p.His612=)
NM_138694.4(PKHD1):c.1854del (p.Gly619fs) rs1807328785
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1862T>A (p.Met621Lys)
NM_138694.4(PKHD1):c.1883T>C (p.Ile628Thr)
NM_138694.4(PKHD1):c.1892dup (p.Thr632fs)
NM_138694.4(PKHD1):c.1895C>T (p.Thr632Ile)
NM_138694.4(PKHD1):c.1916T>C (p.Val639Ala)
NM_138694.4(PKHD1):c.1946C>T (p.Thr649Met)
NM_138694.4(PKHD1):c.1952C>A (p.Thr651Asn)
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg) rs727504092
NM_138694.4(PKHD1):c.197A>G (p.Asn66Ser)
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter) rs2128203862
NM_138694.4(PKHD1):c.2005C>T (p.Arg669Cys)
NM_138694.4(PKHD1):c.2014G>A (p.Gly672Arg)
NM_138694.4(PKHD1):c.2027C>A (p.Pro676His)
NM_138694.4(PKHD1):c.2035G>A (p.Ala679Thr)
NM_138694.4(PKHD1):c.2110_2111dup (p.Ile705fs)
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu) rs144455663
NM_138694.4(PKHD1):c.2140G>A (p.Val714Ile)
NM_138694.4(PKHD1):c.2141-9G>A
NM_138694.4(PKHD1):c.2161_2163delinsCT (p.Thr721fs)
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2212C>G (p.Pro738Ala)
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=) rs373367366
NM_138694.4(PKHD1):c.2217G>T (p.Pro739=) rs373367366
NM_138694.4(PKHD1):c.2230A>G (p.Thr744Ala)
NM_138694.4(PKHD1):c.2234C>T (p.Ser745Phe)
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter) rs1806573538
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2279+1G>T
NM_138694.4(PKHD1):c.2287C>A (p.Pro763Thr)
NM_138694.4(PKHD1):c.2294A>G (p.Glu765Gly)
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2308G>A (p.Gly770Arg)
NM_138694.4(PKHD1):c.2318T>C (p.Leu773Pro)
NM_138694.4(PKHD1):c.2342G>A (p.Arg781Gln)
NM_138694.4(PKHD1):c.2356C>A (p.Pro786Thr)
NM_138694.4(PKHD1):c.2360C>A (p.Pro787His)
NM_138694.4(PKHD1):c.2446C>T (p.Leu816Phe)
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys) rs781698219
NM_138694.4(PKHD1):c.2552_2553delinsAG (p.Ser851Ter)
NM_138694.4(PKHD1):c.2592+1G>A
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.2592+2T>C
NM_138694.4(PKHD1):c.260C>T (p.Pro87Leu)
NM_138694.4(PKHD1):c.264G>A (p.Val88=)
NM_138694.4(PKHD1):c.2715+1G>A
NM_138694.4(PKHD1):c.2722G>T (p.Val908Leu) rs2128184282
NM_138694.4(PKHD1):c.274C>A (p.Arg92=)
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2772G>T (p.Gln924His)
NM_138694.4(PKHD1):c.2779dup (p.Gln927fs)
NM_138694.4(PKHD1):c.278C>A (p.Thr93Asn)
NM_138694.4(PKHD1):c.281+2T>G
NM_138694.4(PKHD1):c.2821+14C>G
NM_138694.4(PKHD1):c.2848A>G (p.Ile950Val)
NM_138694.4(PKHD1):c.2859del (p.Gly954fs)
NM_138694.4(PKHD1):c.2893A>G (p.Thr965Ala)
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg) rs794727447
NM_138694.4(PKHD1):c.3016A>G (p.Ile1006Val)
NM_138694.4(PKHD1):c.3026C>G (p.Thr1009Ser)
NM_138694.4(PKHD1):c.3043C>G (p.Leu1015Val) rs1272367929
NM_138694.4(PKHD1):c.3069G>A (p.Met1023Ile)
NM_138694.4(PKHD1):c.3097+1G>A
NM_138694.4(PKHD1):c.3097G>T (p.Gly1033Ter)
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.3156_3157insATTGGATATTGGATAAGATATT (p.Gly1053fs)
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)
NM_138694.4(PKHD1):c.3164A>G (p.Tyr1055Cys)
NM_138694.4(PKHD1):c.3184G>A (p.Ala1062Thr)
NM_138694.4(PKHD1):c.319C>A (p.Leu107Met)
NM_138694.4(PKHD1):c.3217G>A (p.Val1073Ile)
NM_138694.4(PKHD1):c.3218T>C (p.Val1073Ala)
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3236A>G (p.Asp1079Gly)
NM_138694.4(PKHD1):c.3238G>A (p.Gly1080Arg)
NM_138694.4(PKHD1):c.3313T>C (p.Ser1105Pro)
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3374C>A (p.Thr1125Asn)
NM_138694.4(PKHD1):c.3377T>C (p.Leu1126Pro)
NM_138694.4(PKHD1):c.3443C>G (p.Ala1148Gly)
NM_138694.4(PKHD1):c.3453G>A (p.Pro1151=)
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3508_3510dup (p.Gly1170_Leu1171insGly)
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs) rs2128152615
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter)
NM_138694.4(PKHD1):c.3631G>A (p.Gly1211Arg)
NM_138694.4(PKHD1):c.3644G>A (p.Ser1215Asn)
NM_138694.4(PKHD1):c.3655A>G (p.Ile1219Val)
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3700A>G (p.Asn1234Asp)
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser) rs1802145665
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu) rs140815495
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs) rs2128146668
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3765_3766del (p.Gln1256fs)
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3769A>G (p.Ile1257Val)
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs)
NM_138694.4(PKHD1):c.3772C>T (p.Pro1258Ser)
NM_138694.4(PKHD1):c.3784G>C (p.Ala1262Pro)
NM_138694.4(PKHD1):c.3788C>T (p.Pro1263Leu)
NM_138694.4(PKHD1):c.379T>G (p.Cys127Gly)
NM_138694.4(PKHD1):c.3805G>A (p.Val1269Met)
NM_138694.4(PKHD1):c.3817G>A (p.Ala1273Thr)
NM_138694.4(PKHD1):c.3858G>C (p.Leu1286Phe)
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3952C>A (p.His1318Asn)
NM_138694.4(PKHD1):c.395C>T (p.Ser132Phe)
NM_138694.4(PKHD1):c.3995G>A (p.Gly1332Glu)
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs)
NM_138694.4(PKHD1):c.4045del (p.Leu1349fs)
NM_138694.4(PKHD1):c.4065del (p.Leu1356fs)
NM_138694.4(PKHD1):c.4066C>T (p.Leu1356Phe)
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
NM_138694.4(PKHD1):c.4106G>A (p.Arg1369His)
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.412A>G (p.Ile138Val)
NM_138694.4(PKHD1):c.4139T>C (p.Val1380Ala)
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=) rs756553815
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
NM_138694.4(PKHD1):c.4257G>T (p.Arg1419Ser)
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe) rs565836750
NM_138694.4(PKHD1):c.4277C>G (p.Ser1426Trp)
NM_138694.4(PKHD1):c.4297A>G (p.Ile1433Val)
NM_138694.4(PKHD1):c.4411G>T (p.Glu1471Ter)
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter) rs1554198717
NM_138694.4(PKHD1):c.4424A>C (p.Asn1475Thr)
NM_138694.4(PKHD1):c.4430C>T (p.Thr1477Ile)
NM_138694.4(PKHD1):c.4436T>C (p.Phe1479Ser)
NM_138694.4(PKHD1):c.4450del (p.Ala1484fs)
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_138694.4(PKHD1):c.4459G>A (p.Val1487Ile)
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.4504G>C (p.Val1502Leu)
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu) rs1581806804
NM_138694.4(PKHD1):c.4512del (p.Arg1505fs)
NM_138694.4(PKHD1):c.4537_4554del (p.Ala1513_Val1518del)
NM_138694.4(PKHD1):c.4583dup (p.Thr1529fs)
NM_138694.4(PKHD1):c.4589T>C (p.Phe1530Ser)
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter) rs1057516263
NM_138694.4(PKHD1):c.463G>T (p.Val155Leu)
NM_138694.4(PKHD1):c.4697C>T (p.Ser1566Phe)
NM_138694.4(PKHD1):c.4716G>A (p.Met1572Ile)
NM_138694.4(PKHD1):c.4741A>G (p.Lys1581Glu)
NM_138694.4(PKHD1):c.4816del (p.Val1606fs) rs2128142490
NM_138694.4(PKHD1):c.4859C>A (p.Ala1620Asp)
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile) rs932913425
NM_138694.4(PKHD1):c.4903G>A (p.Ala1635Thr)
NM_138694.4(PKHD1):c.491T>G (p.Leu164Trp)
NM_138694.4(PKHD1):c.4932_4933delinsTC (p.Trp1644_Tyr1645delinsCysHis)
NM_138694.4(PKHD1):c.4999G>A (p.Asp1667Asn)
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val) rs749029593
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.50C>T (p.Ala17Val)
NM_138694.4(PKHD1):c.5101G>A (p.Val1701Ile)
NM_138694.4(PKHD1):c.5110T>C (p.Cys1704Arg)
NM_138694.4(PKHD1):c.5117T>A (p.Val1706Asp)
NM_138694.4(PKHD1):c.5120C>T (p.Pro1707Leu)
NM_138694.4(PKHD1):c.5123C>T (p.Ser1708Phe)
NM_138694.4(PKHD1):c.512C>A (p.Ala171Asp)
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
NM_138694.4(PKHD1):c.5212A>G (p.Ile1738Val)
NM_138694.4(PKHD1):c.5228A>G (p.Glu1743Gly)
NM_138694.4(PKHD1):c.5236+2del
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser)
NM_138694.4(PKHD1):c.5239T>C (p.Cys1747Arg)
NM_138694.4(PKHD1):c.5257_5259del (p.Val1753del)
NM_138694.4(PKHD1):c.528-1G>T
NM_138694.4(PKHD1):c.528-2A>G
NM_138694.4(PKHD1):c.528-9del rs753686281
NM_138694.4(PKHD1):c.5299G>A (p.Ala1767Thr)
NM_138694.4(PKHD1):c.5336A>T (p.Asn1779Ile)
NM_138694.4(PKHD1):c.5359T>C (p.Cys1787Arg)
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu) rs1288521396
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=) rs758616921
NM_138694.4(PKHD1):c.5402G>T (p.Gly1801Val)
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5414A>T (p.Glu1805Val)
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter)
NM_138694.4(PKHD1):c.5444_5445del (p.Thr1815fs)
NM_138694.4(PKHD1):c.5450T>G (p.Val1817Gly)
NM_138694.4(PKHD1):c.5456G>A (p.Cys1819Tyr)
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter) rs2128231908
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5506del (p.Tyr1836fs)
NM_138694.4(PKHD1):c.5539C>T (p.Leu1847Phe)
NM_138694.4(PKHD1):c.5598C>G (p.Ile1866Met)
NM_138694.4(PKHD1):c.5601-6T>C
NM_138694.4(PKHD1):c.5603C>G (p.Pro1868Arg)
NM_138694.4(PKHD1):c.564dup (p.Thr189fs)
NM_138694.4(PKHD1):c.5665G>A (p.Glu1889Lys)
NM_138694.4(PKHD1):c.5666A>G (p.Glu1889Gly)
NM_138694.4(PKHD1):c.5681G>A (p.Cys1894Tyr)
NM_138694.4(PKHD1):c.5707G>A (p.Val1903Ile)
NM_138694.4(PKHD1):c.5716A>G (p.Thr1906Ala)
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5761del (p.Ser1921fs)
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp) rs543037335
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe) rs1791759592
NM_138694.4(PKHD1):c.5792C>T (p.Thr1931Ile)
NM_138694.4(PKHD1):c.581T>C (p.Ile194Thr)
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5832C>A (p.Asp1944Glu)
NM_138694.4(PKHD1):c.5839A>G (p.Thr1947Ala)
NM_138694.4(PKHD1):c.5854C>T (p.Gln1952Ter)
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5882G>C (p.Ser1961Thr)
NM_138694.4(PKHD1):c.5902A>G (p.Ile1968Val)
NM_138694.4(PKHD1):c.5909G>C (p.Gly1970Ala)
NM_138694.4(PKHD1):c.5927T>C (p.Met1976Thr)
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.5941A>G (p.Ile1981Val) rs1233590429
NM_138694.4(PKHD1):c.595G>T (p.Gly199Ter)
NM_138694.4(PKHD1):c.5980G>A (p.Gly1994Arg)
NM_138694.4(PKHD1):c.599G>A (p.Ser200Asn)
NM_138694.4(PKHD1):c.603-16T>A
NM_138694.4(PKHD1):c.6030G>T (p.Gln2010His)
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6111_6112del (p.Leu2039fs)
NM_138694.4(PKHD1):c.6121+1G>A
NM_138694.4(PKHD1):c.6131C>T (p.Pro2044Leu)
NM_138694.4(PKHD1):c.6170C>A (p.Ala2057Asp)
NM_138694.4(PKHD1):c.6209G>A (p.Trp2070Ter)
NM_138694.4(PKHD1):c.6287_6288del (p.Val2096fs)
NM_138694.4(PKHD1):c.6317T>G (p.Leu2106Arg)
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6351del (p.Glu2118fs)
NM_138694.4(PKHD1):c.6362T>C (p.Val2121Ala)
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs)
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer) rs1405067373
NM_138694.4(PKHD1):c.6408C>A (p.Ser2136Arg)
NM_138694.4(PKHD1):c.6424C>G (p.Gln2142Glu)
NM_138694.4(PKHD1):c.6434T>G (p.Leu2145Arg)
NM_138694.4(PKHD1):c.6490+3A>G
NM_138694.4(PKHD1):c.6490G>A (p.Gly2164Ser) rs147595459
NM_138694.4(PKHD1):c.6493A>G (p.Asn2165Asp)
NM_138694.4(PKHD1):c.6501G>C (p.Gln2167His)
NM_138694.4(PKHD1):c.6571T>A (p.Ser2191Thr)
NM_138694.4(PKHD1):c.6577C>T (p.Pro2193Ser)
NM_138694.4(PKHD1):c.6631C>T (p.Gln2211Ter)
NM_138694.4(PKHD1):c.6635C>G (p.Ala2212Gly)
NM_138694.4(PKHD1):c.6647A>G (p.His2216Arg)
NM_138694.4(PKHD1):c.666C>G (p.Ile222Met)
NM_138694.4(PKHD1):c.6684G>A (p.Glu2228=)
NM_138694.4(PKHD1):c.673C>G (p.Gln225Glu)
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=) rs900150542
NM_138694.4(PKHD1):c.6763G>A (p.Asp2255Asn)
NM_138694.4(PKHD1):c.6769A>G (p.Asn2257Asp)
NM_138694.4(PKHD1):c.6808+5G>C rs398124490
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.685T>C (p.Phe229Leu)
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6866-4_6866-2del rs748114217
NM_138694.4(PKHD1):c.689C>T (p.Ser230Leu)
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) rs373795139
NM_138694.4(PKHD1):c.6947T>C (p.Met2316Thr)
NM_138694.4(PKHD1):c.6977G>A (p.Ser2326Asn)
NM_138694.4(PKHD1):c.6986A>G (p.Asn2329Ser)
NM_138694.4(PKHD1):c.6988G>T (p.Val2330Phe)
NM_138694.4(PKHD1):c.6996+4A>T
NM_138694.4(PKHD1):c.707+5G>A
NM_138694.4(PKHD1):c.7079T>G (p.Phe2360Cys)
NM_138694.4(PKHD1):c.7088del (p.Asn2363fs)
NM_138694.4(PKHD1):c.7110-1G>T
NM_138694.4(PKHD1):c.7123G>C (p.Val2375Leu)
NM_138694.4(PKHD1):c.7149G>T (p.Trp2383Cys)
NM_138694.4(PKHD1):c.7166C>T (p.Thr2389Ile)
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs)
NM_138694.4(PKHD1):c.7201G>C (p.Ala2401Pro)
NM_138694.4(PKHD1):c.7243A>C (p.Lys2415Gln)
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7283A>G (p.Asp2428Gly)
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) rs753450358
NM_138694.4(PKHD1):c.7328T>G (p.Leu2443Ter)
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter) rs1231660958
NM_138694.4(PKHD1):c.7418C>T (p.Thr2473Ile)
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter) rs2151777194
NM_138694.4(PKHD1):c.7489G>A (p.Gly2497Arg)
NM_138694.4(PKHD1):c.7489G>T (p.Gly2497Ter)
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter) rs769645972
NM_138694.4(PKHD1):c.7541T>A (p.Val2514Glu)
NM_138694.4(PKHD1):c.7543G>A (p.Ala2515Thr)
NM_138694.4(PKHD1):c.7548dup (p.Pro2517fs)
NM_138694.4(PKHD1):c.7565C>T (p.Ala2522Val)
NM_138694.4(PKHD1):c.7602A>G (p.Lys2534=)
NM_138694.4(PKHD1):c.7605C>G (p.Asn2535Lys)
NM_138694.4(PKHD1):c.7672C>T (p.Arg2558Trp)
NM_138694.4(PKHD1):c.7673G>C (p.Arg2558Pro)
NM_138694.4(PKHD1):c.7675G>T (p.Val2559Phe)
NM_138694.4(PKHD1):c.7691C>T (p.Ala2564Val)
NM_138694.4(PKHD1):c.7694G>C (p.Cys2565Ser) rs1336917781
NM_138694.4(PKHD1):c.76G>T (p.Glu26Ter)
NM_138694.4(PKHD1):c.7702G>A (p.Gly2568Ser)
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs) rs797044745
NM_138694.4(PKHD1):c.7730G>A (p.Gly2577Asp)
NM_138694.4(PKHD1):c.7734-27_7734-26dup rs201176305
NM_138694.4(PKHD1):c.7745del (p.Pro2582fs)
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile) rs748895723
NM_138694.4(PKHD1):c.7757_7761del (p.Tyr2586fs)
NM_138694.4(PKHD1):c.7762T>G (p.Leu2588Val)
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.778+3A>G
NM_138694.4(PKHD1):c.7811G>A (p.Arg2604His)
NM_138694.4(PKHD1):c.7823C>A (p.Ser2608Tyr)
NM_138694.4(PKHD1):c.7831C>T (p.Arg2611Cys)
NM_138694.4(PKHD1):c.7867del (p.Tyr2623fs)
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs) rs1045491786
NM_138694.4(PKHD1):c.7909C>G (p.Gln2637Glu)
NM_138694.4(PKHD1):c.7911+2T>C
NM_138694.4(PKHD1):c.7982A>C (p.Tyr2661Ser)
NM_138694.4(PKHD1):c.7993C>T (p.Leu2665Phe)
NM_138694.4(PKHD1):c.800_802delinsTAC (p.Glu267_Thr268delinsValPro)
NM_138694.4(PKHD1):c.8071T>G (p.Phe2691Val)
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs) rs774050795
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8157G>T (p.Met2719Ile)
NM_138694.4(PKHD1):c.8159C>T (p.Pro2720Leu)
NM_138694.4(PKHD1):c.8188C>G (p.Pro2730Ala)
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter) rs2151512054
NM_138694.4(PKHD1):c.8224T>C (p.Trp2742Arg)
NM_138694.4(PKHD1):c.8227C>G (p.Gln2743Glu)
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) rs1562410143
NM_138694.4(PKHD1):c.8248G>A (p.Gly2750Arg)
NM_138694.4(PKHD1):c.8267T>C (p.Ile2756Thr)
NM_138694.4(PKHD1):c.8286C>G (p.Asp2762Glu)
NM_138694.4(PKHD1):c.8287G>A (p.Val2763Ile)
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser) rs764600547
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520
NM_138694.4(PKHD1):c.8396T>A (p.Leu2799Gln)
NM_138694.4(PKHD1):c.8409C>T (p.Cys2803=)
NM_138694.4(PKHD1):c.8420C>T (p.Ala2807Val)
NM_138694.4(PKHD1):c.8455C>T (p.Pro2819Ser) rs886043763
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8494_8496delinsA (p.Ala2832fs)
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.8546G>C (p.Gly2849Ala)
NM_138694.4(PKHD1):c.8566A>G (p.Lys2856Glu)
NM_138694.4(PKHD1):c.8621A>T (p.Asp2874Val) rs1582601370
NM_138694.4(PKHD1):c.8624T>C (p.Ile2875Thr)
NM_138694.4(PKHD1):c.8642+19T>G
NM_138694.4(PKHD1):c.8654A>C (p.Glu2885Ala)
NM_138694.4(PKHD1):c.8670G>A (p.Trp2890Ter)
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.8677del (p.His2893fs)
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu) rs1786704837
NM_138694.4(PKHD1):c.8695A>C (p.Ser2899Arg)
NM_138694.4(PKHD1):c.8752_8761del (p.Lys2917_Gly2918insTer)
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.8766del (p.Ile2923fs)
NM_138694.4(PKHD1):c.8797+1G>T
NM_138694.4(PKHD1):c.8797+20G>T rs766264473
NM_138694.4(PKHD1):c.8798-15C>A
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser) rs1582469785
NM_138694.4(PKHD1):c.8843C>T (p.Ala2948Val)
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
NM_138694.4(PKHD1):c.8882C>T (p.Pro2961Leu)
NM_138694.4(PKHD1):c.8923A>T (p.Arg2975Trp)
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.8951G>A (p.Gly2984Asp)
NM_138694.4(PKHD1):c.8971G>A (p.Val2991Met)
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.8998T>G (p.Leu3000Val)
NM_138694.4(PKHD1):c.9079G>A (p.Gly3027Ser)
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp) rs1444969670
NM_138694.4(PKHD1):c.9170C>T (p.Ala3057Val)
NM_138694.4(PKHD1):c.9196G>A (p.Val3066Ile)
NM_138694.4(PKHD1):c.9226A>C (p.Ile3076Leu)
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9365T>C (p.Val3122Ala)
NM_138694.4(PKHD1):c.937del (p.Ala313fs)
NM_138694.4(PKHD1):c.9445G>A (p.Ala3149Thr)
NM_138694.4(PKHD1):c.9479A>T (p.His3160Leu)
NM_138694.4(PKHD1):c.9485A>G (p.Glu3162Gly)
NM_138694.4(PKHD1):c.9533G>A (p.Gly3178Asp)
NM_138694.4(PKHD1):c.9533G>T (p.Gly3178Val)
NM_138694.4(PKHD1):c.9539del (p.Leu3180fs)
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter) rs2150982651
NM_138694.4(PKHD1):c.9602G>A (p.Arg3201Lys)
NM_138694.4(PKHD1):c.9667T>C (p.Ser3223Pro)
NM_138694.4(PKHD1):c.9668C>T (p.Ser3223Leu)
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540
NM_138694.4(PKHD1):c.976+2T>A
NM_138694.4(PKHD1):c.977-2A>G
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)
NM_138694.4(PKHD1):c.9830-10A>G
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9856A>G (p.Ser3286Gly)
NM_138694.4(PKHD1):c.9866G>A (p.Ser3289Asn)
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg) rs1307732644
NM_173543.3(DZIP1L):c.1289-6C>G
NM_173543.3(DZIP1L):c.1681G>A (p.Ala561Thr)
NM_178170.3(NEK8):c.1024A>G (p.Thr342Ala)
NM_178170.3(NEK8):c.1068G>A (p.Trp356Ter)
NM_178170.3(NEK8):c.106C>G (p.Pro36Ala)
NM_178170.3(NEK8):c.1071G>A (p.Glu357=)
NM_178170.3(NEK8):c.1114G>T (p.Ala372Ser)
NM_178170.3(NEK8):c.1147C>T (p.Arg383Cys)
NM_178170.3(NEK8):c.1224_1227del
NM_178170.3(NEK8):c.1232T>G (p.Ile411Ser)
NM_178170.3(NEK8):c.1251C>G (p.Ser417Arg)
NM_178170.3(NEK8):c.1271G>C (p.Gly424Ala)
NM_178170.3(NEK8):c.1280G>A (p.Ser427Asn)
NM_178170.3(NEK8):c.1316C>T (p.Ala439Val)
NM_178170.3(NEK8):c.131A>T (p.Glu44Val)
NM_178170.3(NEK8):c.1363G>A (p.Val455Met)
NM_178170.3(NEK8):c.1363G>C (p.Val455Leu)
NM_178170.3(NEK8):c.1373T>G (p.Leu458Arg)
NM_178170.3(NEK8):c.1384C>T (p.Arg462Ter) rs770284675
NM_178170.3(NEK8):c.1385G>A (p.Arg462Gln)
NM_178170.3(NEK8):c.1405C>T (p.Arg469Cys)
NM_178170.3(NEK8):c.1417G>A (p.Gly473Ser)
NM_178170.3(NEK8):c.1481G>C (p.Gly494Ala)
NM_178170.3(NEK8):c.1495C>T (p.Arg499Ter)
NM_178170.3(NEK8):c.1496G>T (p.Arg499Leu)
NM_178170.3(NEK8):c.1598C>T (p.Ser533Phe)
NM_178170.3(NEK8):c.1676A>C (p.Asp559Ala)
NM_178170.3(NEK8):c.1688T>C (p.Leu563Pro)
NM_178170.3(NEK8):c.1737G>A (p.Ser579=)
NM_178170.3(NEK8):c.1796G>A (p.Arg599Gln)
NM_178170.3(NEK8):c.1805G>A (p.Arg602Gln)
NM_178170.3(NEK8):c.181C>G (p.Pro61Ala)
NM_178170.3(NEK8):c.1823A>G (p.Gln608Arg)
NM_178170.3(NEK8):c.1853T>C (p.Val618Ala)
NM_178170.3(NEK8):c.1882A>C (p.Ile628Leu)
NM_178170.3(NEK8):c.1888G>A (p.Ala630Thr)
NM_178170.3(NEK8):c.1910G>A (p.Trp637Ter)
NM_178170.3(NEK8):c.1916A>C (p.Lys639Thr)
NM_178170.3(NEK8):c.1919G>C (p.Gly640Ala)
NM_178170.3(NEK8):c.1922C>G (p.Ala641Gly)
NM_178170.3(NEK8):c.1958G>A (p.Gly653Glu)
NM_178170.3(NEK8):c.1966C>G (p.Arg656Gly)
NM_178170.3(NEK8):c.2018G>C (p.Cys673Ser)
NM_178170.3(NEK8):c.202G>A (p.Glu68Lys)
NM_178170.3(NEK8):c.2050+1G>A
NM_178170.3(NEK8):c.2068G>T (p.Val690Phe)
NM_178170.3(NEK8):c.2071C>T (p.Pro691Ser)
NM_178170.3(NEK8):c.2074C>A (p.Pro692Thr)
NM_178170.3(NEK8):c.2075C>A (p.Pro692His)
NM_178170.3(NEK8):c.2076_2077del (p.Ter693ArgextTer?)
NM_178170.3(NEK8):c.241G>A (p.Glu81Lys)
NM_178170.3(NEK8):c.253+4G>A
NM_178170.3(NEK8):c.253+5G>A
NM_178170.3(NEK8):c.254-8G>A
NM_178170.3(NEK8):c.274A>T (p.Ile92Phe)
NM_178170.3(NEK8):c.280A>C (p.Lys94Gln)
NM_178170.3(NEK8):c.300G>A (p.Leu100=)
NM_178170.3(NEK8):c.307G>A (p.Glu103Lys)
NM_178170.3(NEK8):c.368T>A (p.Leu123His)
NM_178170.3(NEK8):c.406C>T (p.Leu136Phe)
NM_178170.3(NEK8):c.418C>T (p.Arg140Cys)
NM_178170.3(NEK8):c.427G>A (p.Val143Ile)
NM_178170.3(NEK8):c.467G>A (p.Ser156Asn)
NM_178170.3(NEK8):c.508A>T (p.Ile170Phe)
NM_178170.3(NEK8):c.514C>A (p.Pro172Thr)
NM_178170.3(NEK8):c.618_618+7dup
NM_178170.3(NEK8):c.667A>G (p.Ile223Val)
NM_178170.3(NEK8):c.675C>A (p.Asp225Glu)
NM_178170.3(NEK8):c.695G>A (p.Arg232His)
NM_178170.3(NEK8):c.724G>C (p.Glu242Gln)
NM_178170.3(NEK8):c.763C>T (p.Gln255Ter)
NM_178170.3(NEK8):c.767C>G (p.Pro256Arg)
NM_178170.3(NEK8):c.778C>T (p.Arg260Cys)
NM_178170.3(NEK8):c.779G>A (p.Arg260His)
NM_178170.3(NEK8):c.793C>G (p.Leu265Val)
NM_178170.3(NEK8):c.809G>A (p.Gly270Asp)
NM_178170.3(NEK8):c.817C>T (p.Arg273Cys)
NM_178170.3(NEK8):c.841G>A (p.Val281Met)
NM_178170.3(NEK8):c.852C>A (p.Ser284Arg)
NM_178170.3(NEK8):c.889+7G>A
NM_178170.3(NEK8):c.88G>A (p.Val30Met)
NM_178170.3(NEK8):c.91A>G (p.Ile31Val)
NM_178170.3(NEK8):c.953G>A (p.Gly318Asp)
NM_178170.3(NEK8):c.968C>T (p.Thr323Ile)
NM_178170.3(NEK8):c.988C>T (p.Leu330Phe)
NM_178170.3(NEK8):c.995_996del (p.Thr332fs)
NM_198334.3(GANAB):c.-4C>G
NM_198334.3(GANAB):c.1085T>C (p.Ile362Thr)
NM_198334.3(GANAB):c.1129C>T (p.Arg377Trp)
NM_198334.3(GANAB):c.1142G>C (p.Ser381Thr) rs1043983959
NM_198334.3(GANAB):c.124G>C (p.Glu42Gln)
NM_198334.3(GANAB):c.1260C>A (p.Asn420Lys)
NM_198334.3(GANAB):c.1287C>G (p.Asp429Glu)
NM_198334.3(GANAB):c.1303G>A (p.Gly435Ser)
NM_198334.3(GANAB):c.131G>T (p.Ser44Ile)
NM_198334.3(GANAB):c.1333C>T (p.Arg445Cys)
NM_198334.3(GANAB):c.1349G>A (p.Arg450His)
NM_198334.3(GANAB):c.1364G>A (p.Arg455His)
NM_198334.3(GANAB):c.1364_1370del (p.Arg455fs)
NM_198334.3(GANAB):c.1387-16_1387-3dup
NM_198334.3(GANAB):c.1387-3C>G
NM_198334.3(GANAB):c.1411A>G (p.Ile471Val)
NM_198334.3(GANAB):c.143A>G (p.Lys48Arg)
NM_198334.3(GANAB):c.1441G>A (p.Glu481Lys)
NM_198334.3(GANAB):c.1455C>G (p.Asn485Lys)
NM_198334.3(GANAB):c.1468G>A (p.Val490Ile)
NM_198334.3(GANAB):c.1475C>G (p.Thr492Ser)
NM_198334.3(GANAB):c.1478G>A (p.Arg493Gln)
NM_198334.3(GANAB):c.1481A>G (p.Asp494Gly)
NM_198334.3(GANAB):c.152_153del (p.Arg51fs) rs752158933
NM_198334.3(GANAB):c.1561_1565delinsGGGG (p.Trp521fs)
NM_198334.3(GANAB):c.161G>A (p.Arg54Gln)
NM_198334.3(GANAB):c.1666A>G (p.Met556Val)
NM_198334.3(GANAB):c.1669C>T (p.Leu557Phe)
NM_198334.3(GANAB):c.1697G>T (p.Trp566Leu)
NM_198334.3(GANAB):c.169C>T (p.Leu57Phe)
NM_198334.3(GANAB):c.1711G>A (p.Val571Met)
NM_198334.3(GANAB):c.1738-15TC[2]
NM_198334.3(GANAB):c.1738-1G>A
NM_198334.3(GANAB):c.1769G>A (p.Arg590His)
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs) rs879255641
NM_198334.3(GANAB):c.1854C>A (p.Asp618Glu)
NM_198334.3(GANAB):c.1864G>A (p.Glu622Lys)
NM_198334.3(GANAB):c.1933G>A (p.Gly645Arg)
NM_198334.3(GANAB):c.1934G>A (p.Gly645Glu)
NM_198334.3(GANAB):c.1937C>T (p.Ala646Val)
NM_198334.3(GANAB):c.1944G>A (p.Val648=)
NM_198334.3(GANAB):c.1983G>A (p.Val661=)
NM_198334.3(GANAB):c.1998G>C (p.Met666Ile) rs767196703
NM_198334.3(GANAB):c.199C>A (p.Leu67Ile)
NM_198334.3(GANAB):c.2021G>A (p.Arg674Gln) rs2134469442
NM_198334.3(GANAB):c.2068C>G (p.Pro690Ala)
NM_198334.3(GANAB):c.2072C>G (p.Ser691Cys)
NM_198334.3(GANAB):c.2072C>T (p.Ser691Phe)
NM_198334.3(GANAB):c.2081A>G (p.Asn694Ser)
NM_198334.3(GANAB):c.2092C>T (p.Arg698Ter)
NM_198334.3(GANAB):c.2117C>T (p.Ser706Phe)
NM_198334.3(GANAB):c.2166C>T (p.Gly722=)
NM_198334.3(GANAB):c.2181-5C>T
NM_198334.3(GANAB):c.2213C>A (p.Thr738Asn)
NM_198334.3(GANAB):c.2222A>G (p.Asn741Ser)
NM_198334.3(GANAB):c.2226A>G (p.Ile742Met)
NM_198334.3(GANAB):c.2303A>G (p.Tyr768Cys)
NM_198334.3(GANAB):c.2330_2331delinsG (p.Tyr777fs)
NM_198334.3(GANAB):c.2336_2339del (p.Ile779fs)
NM_198334.3(GANAB):c.2387C>T (p.Thr796Ile)
NM_198334.3(GANAB):c.23C>T (p.Ala8Val)
NM_198334.3(GANAB):c.2412G>C (p.Gln804His)
NM_198334.3(GANAB):c.243G>T (p.Glu81Asp)
NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter) rs1565088616
NM_198334.3(GANAB):c.2446G>T (p.Val816Leu)
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp) rs879255643
NM_198334.3(GANAB):c.2492T>C (p.Phe831Ser)
NM_198334.3(GANAB):c.2496_2502del (p.Ser835fs)
NM_198334.3(GANAB):c.2530C>T (p.Leu844Phe)
NM_198334.3(GANAB):c.2549A>G (p.His850Arg)
NM_198334.3(GANAB):c.2561A>G (p.Tyr854Cys)
NM_198334.3(GANAB):c.2563C>G (p.Gln855Glu)
NM_198334.3(GANAB):c.2606G>A (p.Gly869Asp)
NM_198334.3(GANAB):c.2632G>C (p.Asp878His)
NM_198334.3(GANAB):c.2683A>G (p.Ile895Val)
NM_198334.3(GANAB):c.274C>T (p.Gln92Ter)
NM_198334.3(GANAB):c.2750T>G (p.Phe917Cys)
NM_198334.3(GANAB):c.283C>T (p.Gln95Ter)
NM_198334.3(GANAB):c.305G>A (p.Arg102Lys)
NM_198334.3(GANAB):c.328C>T (p.Arg110Ter)
NM_198334.3(GANAB):c.32G>A (p.Arg11Lys)
NM_198334.3(GANAB):c.332C>G (p.Pro111Arg)
NM_198334.3(GANAB):c.334C>T (p.Arg112Ter)
NM_198334.3(GANAB):c.340C>T (p.Arg114Cys)
NM_198334.3(GANAB):c.428C>A (p.Ala143Asp)
NM_198334.3(GANAB):c.476A>T (p.Asp159Val)
NM_198334.3(GANAB):c.487G>T (p.Asp163Tyr)
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter) rs754785664
NM_198334.3(GANAB):c.491G>A (p.Arg164Gln) rs1250954225
NM_198334.3(GANAB):c.496C>A (p.Leu166Ile)
NM_198334.3(GANAB):c.501G>T (p.Leu167Phe)
NM_198334.3(GANAB):c.512A>G (p.Asn171Ser)
NM_198334.3(GANAB):c.516_517delinsAT (p.Arg173Ter)
NM_198334.3(GANAB):c.551C>T (p.Pro184Leu)
NM_198334.3(GANAB):c.560+441C>G
NM_198334.3(GANAB):c.560+451C>T
NM_198334.3(GANAB):c.589G>A (p.Asp197Asn)
NM_198334.3(GANAB):c.655G>A (p.Glu219Lys)
NM_198334.3(GANAB):c.661G>C (p.Asp221His)
NM_198334.3(GANAB):c.690C>A (p.Phe230Leu)
NM_198334.3(GANAB):c.718+12G>A
NM_198334.3(GANAB):c.721C>G (p.Pro241Ala)
NM_198334.3(GANAB):c.725T>C (p.Met242Thr)
NM_198334.3(GANAB):c.737T>G (p.Leu246Trp)
NM_198334.3(GANAB):c.73G>A (p.Val25Ile)
NM_198334.3(GANAB):c.754G>A (p.Gly252Ser)
NM_198334.3(GANAB):c.815+3G>A
NM_198334.3(GANAB):c.842A>G (p.Asn281Ser)
NM_198334.3(GANAB):c.997-12T>C

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