ClinVar Miner

List of variants in gene PKHD1 studied for Autosomal recessive polycystic kidney disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3933
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.*374T>C rs2784201 0.99624
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_138694.4(PKHD1):c.*2564A>G rs1414504 0.88144
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_138694.4(PKHD1):c.*3026A>G rs2784199 0.70489
NM_138694.4(PKHD1):c.5909-46A>G rs1266889 0.70194
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_138694.4(PKHD1):c.3629-32A>G rs2499480 0.46280
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_138694.4(PKHD1):c.2407+50C>T rs10948667 0.41035
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7733+33C>T rs9382044 0.39361
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_138694.4(PKHD1):c.8441-32G>C rs3920621 0.33143
NM_138694.4(PKHD1):c.9998+49A>G rs2397060 0.32325
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_138694.4(PKHD1):c.527+19T>C rs9474140 0.27509
NM_138694.4(PKHD1):c.11786-30C>T rs9395699 0.14058
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_138694.4(PKHD1):c.*2208A>G rs2784200 0.12333
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_138694.4(PKHD1):c.8643-24A>G rs2766125 0.05514
NM_138694.4(PKHD1):c.8798-19del rs112525785 0.05493
NM_138694.4(PKHD1):c.8174-49G>C rs12527920 0.05408
NM_138694.4(PKHD1):c.8173+37G>A rs12523900 0.05319
NM_138694.4(PKHD1):c.8302+18A>G rs12529717 0.05228
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034 0.04948
NM_138694.4(PKHD1):c.11507-21A>G rs2174860 0.04499
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488 0.04490
NM_138694.4(PKHD1):c.*2331C>T rs76762827 0.04028
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306 0.03897
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_138694.4(PKHD1):c.*3025C>T rs2771012 0.02192
NM_138694.4(PKHD1):c.1694-32C>G rs12196276 0.02096
NM_138694.4(PKHD1):c.1234-39C>G rs115660674 0.02051
NM_138694.4(PKHD1):c.8950+44A>G rs58823342 0.01939
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_138694.4(PKHD1):c.8108-16G>C rs73442356 0.01832
NM_138694.4(PKHD1):c.*3044A>T rs41273712 0.01744
NM_138694.4(PKHD1):c.*1525G>A rs6941633 0.01740
NM_138694.4(PKHD1):c.*636C>A rs41273718 0.01441
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_138694.4(PKHD1):c.*1637G>A rs77227361 0.01221
NM_138694.4(PKHD1):c.*2082A>G rs79635571 0.01218
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755 0.01078
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=) rs2499482 0.01071
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_138694.4(PKHD1):c.391-43T>A rs116414807 0.00920
NM_138694.4(PKHD1):c.888A>T (p.Pro296=) rs76012218 0.00916
NM_138694.4(PKHD1):c.7733+43G>A rs141811489 0.00897
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_138694.4(PKHD1):c.1603-28T>C rs73435705 0.00844
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00770
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_138694.4(PKHD1):c.*2967T>A rs41273714 0.00582
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487 0.00453
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_138694.4(PKHD1):c.2715+7del rs551015414 0.00313
NM_138694.4(PKHD1):c.*232T>G rs147372425 0.00294
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00257
NM_138694.4(PKHD1):c.*1005C>T rs41273716 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_138694.4(PKHD1):c.8951-13C>T rs112249812 0.00163
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_138694.4(PKHD1):c.*1083G>T rs376414551 0.00146
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_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_138694.4(PKHD1):c.*1597G>A rs116233809 0.00137
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln) rs185941281 0.00125
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907 0.00115
NM_138694.4(PKHD1):c.281+3A>G rs79803080 0.00113
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) rs78543922 0.00113
NM_138694.4(PKHD1):c.*308C>T rs570760306 0.00112
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr) rs114237522 0.00099
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_138694.4(PKHD1):c.3097+15G>T rs376878007 0.00093
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=) rs145960781 0.00088
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041 0.00087
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_138694.4(PKHD1):c.5752-9G>A rs184441390 0.00074
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=) rs182216709 0.00060
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp) rs141384205 0.00055
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_138694.4(PKHD1):c.1119-18C>G rs367960459 0.00053
NM_138694.4(PKHD1):c.11311-19C>G rs181140024 0.00052
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_138694.4(PKHD1):c.11507-11C>T rs201478327 0.00050
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg) rs112030234 0.00049
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser) rs146102132 0.00048
NM_138694.4(PKHD1):c.9154G>T (p.Asp3052Tyr) rs765526 0.00048
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012 0.00048
NM_138694.4(PKHD1):c.3411G>A (p.Thr1137=) rs138350291 0.00047
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_138694.4(PKHD1):c.11310+13A>G rs191991777 0.00043
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_138694.4(PKHD1):c.9496G>C (p.Glu3166Gln) rs201480892 0.00041
NM_138694.4(PKHD1):c.*1450T>A rs755494395 0.00040
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) rs201195801 0.00040
NM_138694.4(PKHD1):c.7911+19T>C rs201017366 0.00040
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900 0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr) rs144905283 0.00039
NM_138694.4(PKHD1):c.7215+13G>T rs562612275 0.00039
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_138694.4(PKHD1):c.5381-12T>C rs143682303 0.00037
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264 0.00036
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993 0.00035
NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro) rs144365187 0.00033
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146 0.00033
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_138694.4(PKHD1):c.1643A>G (p.Lys548Arg) rs145163993 0.00030
NM_138694.4(PKHD1):c.*1217G>A rs886061605 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=) rs146468152 0.00029
NM_138694.4(PKHD1):c.8174-19A>T rs758233215 0.00028
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=) rs147584295 0.00027
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926 0.00026
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_138694.4(PKHD1):c.130+9G>A rs367608402 0.00025
NM_138694.4(PKHD1):c.6710G>A (p.Arg2237Lys) rs144673879 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00024
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=) rs148817026 0.00024
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly) rs148901752 0.00023
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln) rs140781915 0.00023
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_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln) rs371665285 0.00021
NM_138694.4(PKHD1):c.8554+3A>G rs370312392 0.00021
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.528-18A>T rs200804428 0.00020
NM_138694.4(PKHD1):c.5777G>A (p.Arg1926Gln) rs199598712 0.00020
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074 0.00020
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=) rs368101035 0.00020
NM_138694.4(PKHD1):c.7734-6C>A rs367564272 0.00020
NM_138694.4(PKHD1):c.*2922T>C rs146856769 0.00019
NM_138694.4(PKHD1):c.11737C>T (p.Arg3913Cys) rs151198392 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.3984C>T (p.Val1328=) rs182468850 0.00019
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537 0.00019
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=) rs149310653 0.00019
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136 0.00018
NM_138694.4(PKHD1):c.6490+8A>G rs201984652 0.00018
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_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=) rs755688912 0.00017
NM_138694.4(PKHD1):c.831C>T (p.Ile277=) rs142678486 0.00017
NM_138694.4(PKHD1):c.*1381G>C rs573219087 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.2781A>G (p.Gln927=) rs200511208 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 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_138694.4(PKHD1):c.9999-4A>G rs1255927856 0.00016
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr) rs145219220 0.00015
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 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_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635 0.00015
NM_138694.4(PKHD1):c.*2976C>T rs145040289 0.00014
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716 0.00014
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=) rs147915980 0.00014
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp) rs756825030 0.00014
NM_138694.4(PKHD1):c.812T>A (p.Leu271His) rs750887164 0.00014
NM_138694.4(PKHD1):c.977-7C>G rs1054774956 0.00014
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val) rs145745489 0.00014
NM_138694.4(PKHD1):c.*934G>T rs558281379 0.00013
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) rs539832575 0.00013
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) rs148300854 0.00013
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_138694.4(PKHD1):c.10797C>T (p.His3599=) rs577357613 0.00012
NM_138694.4(PKHD1):c.11420A>C (p.Gln3807Pro) rs201300259 0.00012
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=) rs557162970 0.00012
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092 0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_138694.4(PKHD1):c.7911+5C>A rs199953233 0.00012
NM_138694.4(PKHD1):c.*3171A>G rs149167096 0.00011
NM_138694.4(PKHD1):c.-214G>A rs886061625 0.00011
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493 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.1974C>T (p.Phe658=) rs199635188 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.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) rs199559837 0.00011
NM_138694.4(PKHD1):c.8107+8T>G rs368339881 0.00011
NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp) rs201254195 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_138694.4(PKHD1):c.*3345T>A rs530251992 0.00010
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.1694-10C>G rs745911880 0.00010
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165 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.6687T>C (p.Ser2229=) rs148497044 0.00010
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp) rs750190287 0.00010
NM_138694.4(PKHD1):c.6795T>C (p.His2265=) rs186227053 0.00010
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268 0.00010
NM_138694.4(PKHD1):c.*1244G>A rs917933676 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.10412T>G (p.Val3471Gly) rs137852950 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.1512+9C>G rs774440496 0.00009
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) rs369932370 0.00009
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845 0.00009
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) rs145789167 0.00009
NM_138694.4(PKHD1):c.2607C>T (p.Asn869=) rs147051973 0.00009
NM_138694.4(PKHD1):c.282-3C>T rs535210707 0.00009
NM_138694.4(PKHD1):c.339A>T (p.Gly113=) rs539738170 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.6564C>T (p.Ile2188=) rs767464690 0.00009
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=) rs373795139 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_138694.4(PKHD1):c.8364C>T (p.Thr2788=) rs777017196 0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708 0.00009
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) rs371508721 0.00009
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892 0.00009
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303 0.00008
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) rs35403035 0.00008
NM_138694.4(PKHD1):c.1487G>A (p.Arg496Gln) rs181391485 0.00008
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=) rs142922408 0.00008
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 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_138694.4(PKHD1):c.*822G>A rs974589280 0.00007
NM_138694.4(PKHD1):c.10413C>G (p.Val3471=) rs147440122 0.00007
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys) rs146680689 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.3629-15G>A rs375870003 0.00007
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=) rs369801937 0.00007
NM_138694.4(PKHD1):c.711A>T (p.Ser237=) rs138184195 0.00007
NM_138694.4(PKHD1):c.8440+10G>C rs376658460 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_138694.4(PKHD1):c.*1154A>G rs548889112 0.00006
NM_138694.4(PKHD1):c.*220A>G rs751649423 0.00006
NM_138694.4(PKHD1):c.*2443A>G rs145917681 0.00006
NM_138694.4(PKHD1):c.*2716C>G rs1311498221 0.00006
NM_138694.4(PKHD1):c.*3138G>A rs894857837 0.00006
NM_138694.4(PKHD1):c.*918T>A rs544051183 0.00006
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg) rs761871204 0.00006
NM_138694.4(PKHD1):c.11318G>T (p.Arg3773Ile) rs200114268 0.00006
NM_138694.4(PKHD1):c.11398+16G>A rs375337813 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.171A>G (p.Gln57=) rs543640706 0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) rs560133266 0.00006
NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys) rs200918134 0.00006
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=) rs147826962 0.00006
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) rs1443176251 0.00006
NM_138694.4(PKHD1):c.2280-9G>A rs376576760 0.00006
NM_138694.4(PKHD1):c.2448C>T (p.Leu816=) rs771790015 0.00006
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=) rs199768081 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp) rs376121326 0.00006
NM_138694.4(PKHD1):c.3860T>G (p.Val1287Gly) rs767229742 0.00006
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=) rs775529923 0.00006
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu) rs200278368 0.00006
NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His) rs151160618 0.00006
NM_138694.4(PKHD1):c.5538C>T (p.Cys1846=) rs373244595 0.00006
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=) rs141473212 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 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.7068G>A (p.Pro2356=) rs200774031 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.7810C>T (p.Arg2604Cys) rs201091083 0.00006
NM_138694.4(PKHD1):c.7887C>T (p.Asn2629=) rs146083613 0.00006
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=) rs748084543 0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) rs374869252 0.00006
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341 0.00006
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) rs200432861 0.00006
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=) rs201670044 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_138694.4(PKHD1):c.10764A>G (p.Leu3588=) rs143257954 0.00005
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=) rs752509045 0.00005
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser) rs374566843 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.2184G>A (p.Leu728=) rs926797825 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.528-4C>T rs761991923 0.00005
NM_138694.4(PKHD1):c.5963T>C (p.Ile1988Thr) rs770492164 0.00005
NM_138694.4(PKHD1):c.607C>T (p.Pro203Ser) rs777994980 0.00005
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070 0.00005
NM_138694.4(PKHD1):c.6698G>A (p.Gly2233Asp) rs763065348 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_138694.4(PKHD1):c.977-9G>A rs372205619 0.00005
NM_138694.4(PKHD1):c.*1027G>A rs960304347 0.00004
NM_138694.4(PKHD1):c.*2031A>G rs886061597 0.00004
NM_138694.4(PKHD1):c.*780A>G rs886061606 0.00004
NM_138694.4(PKHD1):c.10041A>G (p.Ala3347=) rs139546793 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.10473C>T (p.Thr3491=) rs772915495 0.00004
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) rs201534300 0.00004
NM_138694.4(PKHD1):c.1071T>C (p.Asn357=) rs753662225 0.00004
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=) rs754613918 0.00004
NM_138694.4(PKHD1):c.11226A>G (p.Ala3742=) rs770933024 0.00004
NM_138694.4(PKHD1):c.11460C>A (p.Ile3820=) rs763641339 0.00004
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.12162C>T (p.Cys4054=) rs745888824 0.00004
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val) rs781286941 0.00004
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) rs557361225 0.00004
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120 0.00004
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln) rs757182803 0.00004
NM_138694.4(PKHD1):c.1693+9C>T rs753648991 0.00004
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys) rs199846197 0.00004
NM_138694.4(PKHD1):c.1837-10G>A rs749163934 0.00004
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu) rs886061620 0.00004
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159 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.2280-10C>T rs749295454 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.2981G>A (p.Arg994Gln) rs753169961 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.3452C>T (p.Pro1151Leu) rs574099162 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.3806T>C (p.Val1269Ala) rs1398646157 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.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) rs146649894 0.00004
NM_138694.4(PKHD1):c.4363G>A (p.Ala1455Thr) rs760665951 0.00004
NM_138694.4(PKHD1):c.4364C>A (p.Ala1455Asp) rs775246362 0.00004
NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met) rs201858937 0.00004
NM_138694.4(PKHD1):c.462T>C (p.His154=) rs779580027 0.00004
NM_138694.4(PKHD1):c.53-5T>A rs760842585 0.00004
NM_138694.4(PKHD1):c.5535A>G (p.Gln1845=) rs140036742 0.00004
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg) rs1412045164 0.00004
NM_138694.4(PKHD1):c.5838C>A (p.Val1946=) rs769415024 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.6626T>C (p.Leu2209Ser) rs757627773 0.00004
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=) rs747038764 0.00004
NM_138694.4(PKHD1):c.6809-8G>C rs1436176425 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.7591C>T (p.Leu2531=) rs150559372 0.00004
NM_138694.4(PKHD1):c.75T>C (p.Ile25=) rs138600204 0.00004
NM_138694.4(PKHD1):c.7665C>T (p.Ser2555=) rs373409786 0.00004
NM_138694.4(PKHD1):c.8173+12C>T rs368093611 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_138694.4(PKHD1):c.8494G>T (p.Ala2832Ser) rs779751632 0.00004
NM_138694.4(PKHD1):c.8554+11A>G rs753255216 0.00004
NM_138694.4(PKHD1):c.8886C>T (p.Asp2962=) rs138464473 0.00004
NM_138694.4(PKHD1):c.9063C>T (p.His3021=) rs1386956354 0.00004
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg) rs146550270 0.00004
NM_138694.4(PKHD1):c.9504G>A (p.Glu3168=) rs889649722 0.00004
NM_138694.4(PKHD1):c.*1257G>A rs886061604 0.00003
NM_138694.4(PKHD1):c.*3444G>A rs772732172 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.10350C>T (p.Cys3450=) rs765652131 0.00003
NM_138694.4(PKHD1):c.10626C>G (p.Leu3542=) rs756511422 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.10924A>G (p.Met3642Val) rs747283913 0.00003
NM_138694.4(PKHD1):c.10956A>C (p.Pro3652=) rs777523730 0.00003
NM_138694.4(PKHD1):c.11131G>A (p.Gly3711Arg) rs767963628 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.11398+10G>T rs369892238 0.00003
NM_138694.4(PKHD1):c.11506+7T>G rs1204730138 0.00003
NM_138694.4(PKHD1):c.11507-8C>T rs755710579 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.11818A>T (p.Asn3940Tyr) rs757479262 0.00003
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143 0.00003
NM_138694.4(PKHD1):c.11931C>T (p.Ser3977=) rs368081890 0.00003
NM_138694.4(PKHD1):c.12021C>G (p.Leu4007=) rs761543328 0.00003
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp) rs375680275 0.00003
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu) rs758871283 0.00003
NM_138694.4(PKHD1):c.1225A>C (p.Arg409=) rs187962806 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.1338G>A (p.Leu446=) rs537958378 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.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp) rs749170990 0.00003
NM_138694.4(PKHD1):c.2407+5A>G rs767994974 0.00003
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met) rs778864835 0.00003
NM_138694.4(PKHD1):c.262G>C (p.Val88Leu) rs374447352 0.00003
NM_138694.4(PKHD1):c.288G>A (p.Val96=) rs755771472 0.00003
NM_138694.4(PKHD1):c.3012T>C (p.Leu1004=) rs753011152 0.00003
NM_138694.4(PKHD1):c.3137G>C (p.Gly1046Ala) rs374106769 0.00003
NM_138694.4(PKHD1):c.3366C>T (p.Gly1122=) rs145979687 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.3704G>A (p.Arg1235Gln) rs567239866 0.00003
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn) rs779094064 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_138694.4(PKHD1):c.3846T>G (p.Pro1282=) rs760349514 0.00003
NM_138694.4(PKHD1):c.4011T>G (p.Asp1337Glu) rs760893545 0.00003
NM_138694.4(PKHD1):c.4039G>A (p.Val1347Met) rs201087689 0.00003
NM_138694.4(PKHD1):c.4380C>T (p.Asn1460=) rs371934160 0.00003
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg) rs780740862 0.00003
NM_138694.4(PKHD1):c.5385C>T (p.Ser1795=) rs772277538 0.00003
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026 0.00003
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) rs142346881 0.00003
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys) rs151108325 0.00003
NM_138694.4(PKHD1):c.708-4G>A rs748018742 0.00003
NM_138694.4(PKHD1):c.7192T>G (p.Trp2398Gly) rs762553057 0.00003
NM_138694.4(PKHD1):c.7237C>T (p.Arg2413Cys) rs553534988 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.7575A>C (p.Glu2525Asp) rs756456332 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.7956G>T (p.Leu2652=) rs375920156 0.00003
NM_138694.4(PKHD1):c.8325A>C (p.Thr2775=) rs753727582 0.00003
NM_138694.4(PKHD1):c.8410A>G (p.Met2804Val) rs137909186 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.9261G>A (p.Lys3087=) rs763061534 0.00003
NM_138694.4(PKHD1):c.9338del (p.Ser3113fs) rs1388716999 0.00003
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser) rs1343246818 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_138694.4(PKHD1):c.*1001A>G rs926038607 0.00002
NM_138694.4(PKHD1):c.*2580C>A rs886061595 0.00002
NM_138694.4(PKHD1):c.*3323T>C rs886061592 0.00002
NM_138694.4(PKHD1):c.-30A>G rs767584874 0.00002
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=) rs774349380 0.00002
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=) rs773270584 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.10641A>G (p.Leu3547=) rs752895106 0.00002
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=) rs770308751 0.00002
NM_138694.4(PKHD1):c.10830C>T (p.Ala3610=) rs1581891327 0.00002
NM_138694.4(PKHD1):c.10881C>T (p.Cys3627=) rs753883924 0.00002
NM_138694.4(PKHD1):c.108G>A (p.Thr36=) rs779123303 0.00002
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter) rs765934021 0.00002
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=) rs1303599332 0.00002
NM_138694.4(PKHD1):c.11237T>G (p.Leu3746Arg) rs1320401077 0.00002
NM_138694.4(PKHD1):c.11310+19C>T rs767496904 0.00002
NM_138694.4(PKHD1):c.11539G>T (p.Ala3847Ser) rs769135174 0.00002
NM_138694.4(PKHD1):c.11786-9T>C rs1386151581 0.00002
NM_138694.4(PKHD1):c.11916T>C (p.Thr3972=) rs1473205243 0.00002
NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile) rs773044015 0.00002
NM_138694.4(PKHD1):c.1209T>C (p.Ser403=) rs749529299 0.00002
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=) rs1268794606 0.00002
NM_138694.4(PKHD1):c.12155C>T (p.Ala4052Val) rs528907395 0.00002
NM_138694.4(PKHD1):c.1240G>A (p.Val414Met) rs1458077668 0.00002
NM_138694.4(PKHD1):c.1548T>C (p.Leu516=) rs1562249496 0.00002
NM_138694.4(PKHD1):c.1737G>A (p.Thr579=) rs765871629 0.00002
NM_138694.4(PKHD1):c.1796C>T (p.Pro599Leu) rs199941159 0.00002
NM_138694.4(PKHD1):c.1803C>T (p.Ala601=) rs150333445 0.00002
NM_138694.4(PKHD1):c.2013C>T (p.Phe671=) rs1047215529 0.00002
NM_138694.4(PKHD1):c.2130A>C (p.Thr710=) rs751554608 0.00002
NM_138694.4(PKHD1):c.2133C>T (p.Asn711=) rs766225439 0.00002
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=) rs886043022 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile) rs190315828 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.2670A>T (p.Gly890=) rs751304560 0.00002
NM_138694.4(PKHD1):c.2691G>A (p.Leu897=) rs1359342866 0.00002
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_138694.4(PKHD1):c.3005C>T (p.Ser1002Phe) rs760793047 0.00002
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val) rs774570785 0.00002
NM_138694.4(PKHD1):c.3561-9C>T rs374850251 0.00002
NM_138694.4(PKHD1):c.3629-16C>T rs776260404 0.00002
NM_138694.4(PKHD1):c.3643A>T (p.Ser1215Cys) rs752105357 0.00002
NM_138694.4(PKHD1):c.3775G>A (p.Asp1259Asn) rs894304918 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.3953A>T (p.His1318Leu) rs200733734 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.4200G>A (p.Ser1400=) rs767936065 0.00002
NM_138694.4(PKHD1):c.456A>G (p.Leu152=) rs1048675346 0.00002
NM_138694.4(PKHD1):c.5283T>G (p.Ser1761=) rs759156564 0.00002
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=) rs886061618 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.5499G>A (p.Ser1833=) rs557919334 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.5601-7G>A rs752016211 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030 0.00002
NM_138694.4(PKHD1):c.6122-13C>T rs757378511 0.00002
NM_138694.4(PKHD1):c.624T>C (p.His208=) rs767511678 0.00002
NM_138694.4(PKHD1):c.6300G>A (p.Gln2100=) rs751405564 0.00002
NM_138694.4(PKHD1):c.6380T>G (p.Ile2127Ser) rs372932771 0.00002
NM_138694.4(PKHD1):c.6474G>A (p.Glu2158=) rs758723076 0.00002
NM_138694.4(PKHD1):c.663C>T (p.Tyr221=) rs746417768 0.00002
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val) rs755286726 0.00002
NM_138694.4(PKHD1):c.6819G>A (p.Thr2273=) rs201398262 0.00002
NM_138694.4(PKHD1):c.6996+7T>A rs754852008 0.00002
NM_138694.4(PKHD1):c.7216-5T>C rs761204394 0.00002
NM_138694.4(PKHD1):c.7737G>A (p.Ala2579=) rs759139294 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.8036T>C (p.Leu2679Pro) rs200129776 0.00002
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503 0.00002
NM_138694.4(PKHD1):c.8313C>T (p.Val2771=) rs368995583 0.00002
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val) rs762313489 0.00002
NM_138694.4(PKHD1):c.8373C>T (p.Phe2791=) rs769127954 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg) rs771108371 0.00002
NM_138694.4(PKHD1):c.8554+5G>C rs1402749750 0.00002
NM_138694.4(PKHD1):c.873C>T (p.Thr291=) rs769773725 0.00002
NM_138694.4(PKHD1):c.8811C>T (p.Val2937=) rs752973353 0.00002
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 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.931A>G (p.Thr311Ala) rs890884615 0.00002
NM_138694.4(PKHD1):c.9468T>C (p.Gly3156=) rs776397936 0.00002
NM_138694.4(PKHD1):c.9696T>C (p.Ala3232=) rs368588369 0.00002
NM_138694.4(PKHD1):c.978C>G (p.Gly326=) rs759233307 0.00002
NM_138694.4(PKHD1):c.9829+18A>G rs766181065 0.00002
NM_138694.4(PKHD1):c.9829+7T>C rs370995444 0.00002
NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys) rs763499782 0.00002
NM_138694.4(PKHD1):c.*1376A>G rs886061602 0.00001
NM_138694.4(PKHD1):c.*1559T>C rs546309551 0.00001
NM_138694.4(PKHD1):c.*1789G>A rs763964515 0.00001
NM_138694.4(PKHD1):c.*1933G>A rs886061598 0.00001
NM_138694.4(PKHD1):c.*2086A>G rs569538414 0.00001
NM_138694.4(PKHD1):c.*2201G>A rs535226662 0.00001
NM_138694.4(PKHD1):c.*2304_*2305insA rs886061596 0.00001
NM_138694.4(PKHD1):c.*27G>A rs764352165 0.00001
NM_138694.4(PKHD1):c.*3030A>G rs1277165962 0.00001
NM_138694.4(PKHD1):c.*3269C>A rs886061593 0.00001
NM_138694.4(PKHD1):c.-223G>A rs886061626 0.00001
NM_138694.4(PKHD1):c.1002T>C (p.Val334=) rs1284626970 0.00001
NM_138694.4(PKHD1):c.10056T>C (p.Tyr3352=) rs1440812247 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.10083C>G (p.Ala3361=) rs1421801495 0.00001
NM_138694.4(PKHD1):c.10156+9T>C rs748020913 0.00001
NM_138694.4(PKHD1):c.1017G>A (p.Glu339=) rs777204543 0.00001
NM_138694.4(PKHD1):c.10191A>G (p.Gln3397=) rs1431172923 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.10236C>T (p.Val3412=) rs758252697 0.00001
NM_138694.4(PKHD1):c.10275G>A (p.Gln3425=) rs1207558563 0.00001
NM_138694.4(PKHD1):c.10293A>T (p.Val3431=) rs770105585 0.00001
NM_138694.4(PKHD1):c.10297G>A (p.Val3433Met) rs762103009 0.00001
NM_138694.4(PKHD1):c.10302T>G (p.Thr3434=) rs776512983 0.00001
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=) rs375770253 0.00001
NM_138694.4(PKHD1):c.10428A>G (p.Gln3476=) rs765511213 0.00001
NM_138694.4(PKHD1):c.10456T>C (p.Leu3486=) rs1466831280 0.00001
NM_138694.4(PKHD1):c.10470T>C (p.Ser3490=) rs770611675 0.00001
NM_138694.4(PKHD1):c.10542T>C (p.Phe3514=) rs1232537845 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.10590T>C (p.Ser3530=) rs894579480 0.00001
NM_138694.4(PKHD1):c.10655C>T (p.Pro3552Leu) rs1002017976 0.00001
NM_138694.4(PKHD1):c.10668C>T (p.Arg3556=) rs1222689408 0.00001
NM_138694.4(PKHD1):c.106A>G (p.Thr36Ala) rs758858303 0.00001
NM_138694.4(PKHD1):c.10806T>G (p.Pro3602=) rs775071691 0.00001
NM_138694.4(PKHD1):c.10809C>T (p.Gly3603=) rs760590505 0.00001
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys) rs557405366 0.00001
NM_138694.4(PKHD1):c.10866C>T (p.Cys3622=) rs562381413 0.00001
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=) rs1290859259 0.00001
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162 0.00001
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=) rs758082610 0.00001
NM_138694.4(PKHD1):c.1119-9A>C rs1190120876 0.00001
NM_138694.4(PKHD1):c.11262G>A (p.Val3754=) rs1770528501 0.00001
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11290T>C (p.Leu3764=) rs752554296 0.00001
NM_138694.4(PKHD1):c.11311-8A>G rs201733977 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.1131T>C (p.Ser377=) rs754777157 0.00001
NM_138694.4(PKHD1):c.11398+12A>G rs1005908067 0.00001
NM_138694.4(PKHD1):c.11398+2T>C rs754038777 0.00001
NM_138694.4(PKHD1):c.11399-5T>C rs770496334 0.00001
NM_138694.4(PKHD1):c.11421A>G (p.Gln3807=) rs750180871 0.00001
NM_138694.4(PKHD1):c.11439C>T (p.Phe3813=) rs761556765 0.00001
NM_138694.4(PKHD1):c.11465G>A (p.Gly3822Glu) rs906560282 0.00001
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln) rs775097870 0.00001
NM_138694.4(PKHD1):c.11507-5C>T rs886061609 0.00001
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) rs746471701 0.00001
NM_138694.4(PKHD1):c.11571G>A (p.Ser3857=) rs749306806 0.00001
NM_138694.4(PKHD1):c.11572A>C (p.Thr3858Pro) rs1180404523 0.00001
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs) rs747170980 0.00001
NM_138694.4(PKHD1):c.11665+7A>G rs777858056 0.00001
NM_138694.4(PKHD1):c.11665+8G>C rs774561158 0.00001
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter) rs1295732689 0.00001
NM_138694.4(PKHD1):c.11716C>T (p.His3906Tyr) rs371652243 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11754G>T (p.Gly3918=) rs547420174 0.00001
NM_138694.4(PKHD1):c.11775G>T (p.Val3925=) rs1581731432 0.00001
NM_138694.4(PKHD1):c.11786-10T>C rs748739539 0.00001
NM_138694.4(PKHD1):c.11786-3C>A rs746467881 0.00001
NM_138694.4(PKHD1):c.11786-8C>T rs982301499 0.00001
NM_138694.4(PKHD1):c.11802C>T (p.Val3934=) rs1766347218 0.00001
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=) rs199564783 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.11895T>C (p.Ala3965=) rs756198378 0.00001
NM_138694.4(PKHD1):c.1198T>C (p.Leu400=) rs1582024099 0.00001
NM_138694.4(PKHD1):c.12003G>A (p.Glu4001=) rs562165459 0.00001
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter) rs780097121 0.00001
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys) rs531466080 0.00001
NM_138694.4(PKHD1):c.12094C>T (p.Pro4032Ser) rs756859994 0.00001
NM_138694.4(PKHD1):c.12130T>C (p.Leu4044=) rs1334083093 0.00001
NM_138694.4(PKHD1):c.12159C>T (p.Ser4053=) rs1186724457 0.00001
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=) rs757125119 0.00001
NM_138694.4(PKHD1):c.12201G>A (p.Pro4067=) rs750988521 0.00001
NM_138694.4(PKHD1):c.12201G>T (p.Pro4067=) rs750988521 0.00001
NM_138694.4(PKHD1):c.12213G>A (p.Gln4071=) rs1406924877 0.00001
NM_138694.4(PKHD1):c.1233+10G>C rs751322231 0.00001
NM_138694.4(PKHD1):c.1248C>T (p.Ser416=) rs1328906463 0.00001
NM_138694.4(PKHD1):c.1293T>C (p.Asn431=) rs1389554245 0.00001
NM_138694.4(PKHD1):c.1356C>T (p.Tyr452=) rs1007001451 0.00001
NM_138694.4(PKHD1):c.1395G>A (p.Arg465=) rs1396450370 0.00001
NM_138694.4(PKHD1):c.13C>T (p.Leu5=) rs777099133 0.00001
NM_138694.4(PKHD1):c.1403G>T (p.Arg468Met) rs765645325 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.1458C>A (p.Tyr486Ter) rs786204749 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.1503A>C (p.Pro501=) rs199736501 0.00001
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter) rs759322460 0.00001
NM_138694.4(PKHD1):c.1513-8T>A rs752966160 0.00001
NM_138694.4(PKHD1):c.1545C>T (p.Phe515=) rs267601071 0.00001
NM_138694.4(PKHD1):c.1594G>A (p.Ala532Thr) rs367837640 0.00001
NM_138694.4(PKHD1):c.1677G>A (p.Arg559=) rs1807805209 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.1693+10G>A rs886061621 0.00001
NM_138694.4(PKHD1):c.1694-2A>G rs1807619777 0.00001
NM_138694.4(PKHD1):c.1719G>A (p.Gly573=) rs753857593 0.00001
NM_138694.4(PKHD1):c.1721A>T (p.Asp574Val) rs767122237 0.00001
NM_138694.4(PKHD1):c.1734G>A (p.Gly578=) rs759232883 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.1760G>T (p.Ser587Ile) rs769095204 0.00001
NM_138694.4(PKHD1):c.1788T>G (p.Leu596=) rs1404513514 0.00001
NM_138694.4(PKHD1):c.1830T>C (p.Tyr610=) rs749293235 0.00001
NM_138694.4(PKHD1):c.18C>T (p.Ile6=) rs752114253 0.00001
NM_138694.4(PKHD1):c.1917A>T (p.Val639=) rs1192699542 0.00001
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=) rs775144938 0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143 0.00001
NM_138694.4(PKHD1):c.1959C>T (p.Pro653=) rs940015253 0.00001
NM_138694.4(PKHD1):c.1964+12G>T rs572664151 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.1964+7A>G rs1807305424 0.00001
NM_138694.4(PKHD1):c.1971G>A (p.Gln657=) rs192450061 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.2080G>T (p.Ala694Ser) rs1161554442 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.2140+10A>T rs764919618 0.00001
NM_138694.4(PKHD1):c.2141-4C>G rs1042054004 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2229C>G (p.Val743=) rs972076176 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.2280-5C>T rs755922714 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.2408-12C>G rs1207504818 0.00001
NM_138694.4(PKHD1):c.2469C>T (p.Asp823=) rs978337519 0.00001
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val) rs546401927 0.00001
NM_138694.4(PKHD1):c.2520A>G (p.Leu840=) rs1490829825 0.00001
NM_138694.4(PKHD1):c.2592+6T>C rs746058715 0.00001
NM_138694.4(PKHD1):c.2593-10A>G rs1050450962 0.00001
NM_138694.4(PKHD1):c.2610T>C (p.Leu870=) rs368451393 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2646A>G (p.Val882=) rs1450116257 0.00001
NM_138694.4(PKHD1):c.2667T>C (p.Leu889=) rs985733934 0.00001
NM_138694.4(PKHD1):c.2695A>G (p.Thr899Ala) rs922828020 0.00001
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633 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.2760C>T (p.Ser920=) rs1334823914 0.00001
NM_138694.4(PKHD1):c.2788A>G (p.Thr930Ala) rs144387673 0.00001
NM_138694.4(PKHD1):c.2802T>C (p.His934=) rs1046496759 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2817C>T (p.Ser939=) rs745591932 0.00001
NM_138694.4(PKHD1):c.282-10C>T rs756943999 0.00001
NM_138694.4(PKHD1):c.2821+2T>C rs1394431107 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met) rs530600526 0.00001
NM_138694.4(PKHD1):c.2931C>T (p.Asn977=) rs777632589 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.2979T>C (p.His993=) rs528105052 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.3097+7T>C rs759764362 0.00001
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088 0.00001
NM_138694.4(PKHD1):c.3168G>A (p.Ser1056=) rs771881705 0.00001
NM_138694.4(PKHD1):c.3171T>C (p.Cys1057=) rs745329565 0.00001
NM_138694.4(PKHD1):c.3174C>T (p.Ala1058=) rs773742186 0.00001
NM_138694.4(PKHD1):c.31A>G (p.Ile11Val) rs765389565 0.00001
NM_138694.4(PKHD1):c.3229-2del rs1057516283 0.00001
NM_138694.4(PKHD1):c.3229-7T>G rs780401384 0.00001
NM_138694.4(PKHD1):c.3261G>T (p.Val1087=) rs752468749 0.00001
NM_138694.4(PKHD1):c.3264C>T (p.Ile1088=) rs1372651017 0.00001
NM_138694.4(PKHD1):c.3270G>A (p.Gly1090=) rs1225705824 0.00001
NM_138694.4(PKHD1):c.3278C>T (p.Ser1093Phe) rs759209828 0.00001
NM_138694.4(PKHD1):c.3288T>C (p.Leu1096=) rs751889282 0.00001
NM_138694.4(PKHD1):c.3324A>G (p.Pro1108=) rs775820981 0.00001
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr) rs772369540 0.00001
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg) rs746070060 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.3393G>A (p.Ala1131=) rs1562177292 0.00001
NM_138694.4(PKHD1):c.3444C>T (p.Ala1148=) rs768475335 0.00001
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=) rs758231968 0.00001
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780 0.00001
NM_138694.4(PKHD1):c.3511C>G (p.Leu1171Val) rs554000894 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.3561-11A>G rs774114631 0.00001
NM_138694.4(PKHD1):c.3603C>T (p.Ile1201=) rs565924770 0.00001
NM_138694.4(PKHD1):c.3618G>A (p.Gly1206=) rs948061604 0.00001
NM_138694.4(PKHD1):c.3628+7G>A rs1471032530 0.00001
NM_138694.4(PKHD1):c.3690A>G (p.Val1230=) rs762868509 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.3728C>A (p.Thr1243Lys) rs774865280 0.00001
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=) rs150985194 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.3762C>T (p.Ala1254=) rs758337939 0.00001
NM_138694.4(PKHD1):c.3774C>T (p.Pro1258=) rs765696714 0.00001
NM_138694.4(PKHD1):c.3810G>A (p.Glu1270=) rs747245050 0.00001
NM_138694.4(PKHD1):c.381T>C (p.Cys127=) rs755926109 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_138694.4(PKHD1):c.3897A>C (p.Ala1299=) rs1581812316 0.00001
NM_138694.4(PKHD1):c.3949C>T (p.Leu1317=) rs1262572564 0.00001
NM_138694.4(PKHD1):c.3983T>C (p.Val1328Ala) rs767017869 0.00001
NM_138694.4(PKHD1):c.4053A>G (p.Gly1351=) rs1802062861 0.00001
NM_138694.4(PKHD1):c.4080G>A (p.Glu1360=) rs1227531783 0.00001
NM_138694.4(PKHD1):c.4116G>A (p.Gln1372=) rs767970427 0.00001
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr) rs773345692 0.00001
NM_138694.4(PKHD1):c.414C>T (p.Ile138=) rs368595925 0.00001
NM_138694.4(PKHD1):c.4190C>T (p.Ser1397Leu) rs778541098 0.00001
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg) rs759930967 0.00001
NM_138694.4(PKHD1):c.4212G>A (p.Gly1404=) rs751984319 0.00001
NM_138694.4(PKHD1):c.4224T>C (p.Thr1408=) rs1348053835 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.4350C>A (p.Asp1450Glu) rs761895057 0.00001
NM_138694.4(PKHD1):c.435A>G (p.Pro145=) rs1385777368 0.00001
NM_138694.4(PKHD1):c.4386A>G (p.Thr1462=) rs1802008518 0.00001
NM_138694.4(PKHD1):c.4403T>C (p.Leu1468Pro) rs140331370 0.00001
NM_138694.4(PKHD1):c.4458T>G (p.Pro1486=) rs1801993321 0.00001
NM_138694.4(PKHD1):c.448+8A>T rs754306902 0.00001
NM_138694.4(PKHD1):c.449-6A>G rs200204976 0.00001
NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly) rs1271610315 0.00001
NM_138694.4(PKHD1):c.4529C>A (p.Ala1510Asp) rs758834151 0.00001
NM_138694.4(PKHD1):c.4548G>A (p.Pro1516=) rs141745652 0.00001
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp) rs1278235097 0.00001
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter) rs1350620976 0.00001
NM_138694.4(PKHD1):c.494A>C (p.Glu165Ala) rs1302500833 0.00001
NM_138694.4(PKHD1):c.519C>T (p.Tyr173=) rs1044839219 0.00001
NM_138694.4(PKHD1):c.5241C>T (p.Cys1747=) rs750494997 0.00001
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=) rs556583531 0.00001
NM_138694.4(PKHD1):c.528-12T>G rs1231110596 0.00001
NM_138694.4(PKHD1):c.528-9T>A rs765406968 0.00001
NM_138694.4(PKHD1):c.5295C>T (p.Val1765=) rs1314352919 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.5364G>C (p.Leu1788Phe) rs780332791 0.00001
NM_138694.4(PKHD1):c.5448T>C (p.Tyr1816=) rs1554194511 0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689 0.00001
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=) rs1241103975 0.00001
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=) rs535128714 0.00001
NM_138694.4(PKHD1):c.5534A>G (p.Gln1845Arg) rs566044331 0.00001
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=) rs1355951747 0.00001
NM_138694.4(PKHD1):c.5556T>C (p.His1852=) rs549418638 0.00001
NM_138694.4(PKHD1):c.5586G>A (p.Ser1862=) rs1372900985 0.00001
NM_138694.4(PKHD1):c.5601-8C>T rs578030952 0.00001
NM_138694.4(PKHD1):c.564T>C (p.Val188=) rs539421268 0.00001
NM_138694.4(PKHD1):c.5664T>C (p.Thr1888=) rs1351464166 0.00001
NM_138694.4(PKHD1):c.5688G>A (p.Thr1896=) rs1050674532 0.00001
NM_138694.4(PKHD1):c.56G>A (p.Arg19His) rs1375765328 0.00001
NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=) rs755566688 0.00001
NM_138694.4(PKHD1):c.5718T>C (p.Thr1906=) rs374118763 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.5857T>C (p.Leu1953=) rs1337056978 0.00001
NM_138694.4(PKHD1):c.5901C>T (p.His1967=) rs767869432 0.00001
NM_138694.4(PKHD1):c.5919G>A (p.Leu1973=) rs776465295 0.00001
NM_138694.4(PKHD1):c.5940C>A (p.Pro1980=) rs1787124894 0.00001
NM_138694.4(PKHD1):c.5943C>T (p.Ile1981=) rs768329869 0.00001
NM_138694.4(PKHD1):c.5976T>C (p.Asp1992=) rs371017079 0.00001
NM_138694.4(PKHD1):c.5991G>A (p.Arg1997=) rs1787110447 0.00001
NM_138694.4(PKHD1):c.600C>T (p.Ser200=) rs1232880579 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=) rs373208457 0.00001
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00001
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=) rs774944622 0.00001
NM_138694.4(PKHD1):c.6075T>C (p.Tyr2025=) rs199747902 0.00001
NM_138694.4(PKHD1):c.6078A>G (p.Gly2026=) rs142591323 0.00001
NM_138694.4(PKHD1):c.6084G>A (p.Lys2028=) rs770405897 0.00001
NM_138694.4(PKHD1):c.6138A>G (p.Val2046=) rs571947850 0.00001
NM_138694.4(PKHD1):c.6142G>T (p.Val2048Phe) rs767464186 0.00001
NM_138694.4(PKHD1):c.6187G>A (p.Ala2063Thr) rs772835579 0.00001
NM_138694.4(PKHD1):c.6280G>A (p.Val2094Ile) rs1314635548 0.00001
NM_138694.4(PKHD1):c.6306A>G (p.Thr2102=) rs368564244 0.00001
NM_138694.4(PKHD1):c.6312C>T (p.Leu2104=) rs1380168177 0.00001
NM_138694.4(PKHD1):c.6351A>G (p.Thr2117=) rs766729223 0.00001
NM_138694.4(PKHD1):c.6387G>A (p.Lys2129=) rs1783006359 0.00001
NM_138694.4(PKHD1):c.642G>A (p.Gln214=) rs762584715 0.00001
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014 0.00001
NM_138694.4(PKHD1):c.6490+10T>C rs1782979614 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.6609A>C (p.Gly2203=) rs1199469738 0.00001
NM_138694.4(PKHD1):c.660C>T (p.Asp220=) rs1480108656 0.00001
NM_138694.4(PKHD1):c.6630G>A (p.Gly2210=) rs1199629361 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.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.6753C>T (p.Gly2251=) rs1298717679 0.00001
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=) rs1315333212 0.00001
NM_138694.4(PKHD1):c.6789A>G (p.Leu2263=) rs756262878 0.00001
NM_138694.4(PKHD1):c.6802C>T (p.Leu2268=) rs758494106 0.00001
NM_138694.4(PKHD1):c.6808+1G>T rs1217968843 0.00001
NM_138694.4(PKHD1):c.6865+8T>C rs777581510 0.00001
NM_138694.4(PKHD1):c.6885T>C (p.Asn2295=) rs749198425 0.00001
NM_138694.4(PKHD1):c.6909C>T (p.Ile2303=) rs1195711232 0.00001
NM_138694.4(PKHD1):c.6984C>T (p.Thr2328=) rs770983834 0.00001
NM_138694.4(PKHD1):c.6996+9T>A rs878855203 0.00001
NM_138694.4(PKHD1):c.6T>C (p.Thr2=) rs372067956 0.00001
NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser) rs1554290169 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.7095A>G (p.Ala2365=) rs1778339251 0.00001
NM_138694.4(PKHD1):c.7109+10G>T rs143958875 0.00001
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588 0.00001
NM_138694.4(PKHD1):c.7131T>C (p.Pro2377=) rs1382219917 0.00001
NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter) rs1436814142 0.00001
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter) rs794727680 0.00001
NM_138694.4(PKHD1):c.7216-9A>G rs765009828 0.00001
NM_138694.4(PKHD1):c.722A>G (p.Lys241Arg) rs763591478 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=) rs200807210 0.00001
NM_138694.4(PKHD1):c.7292A>T (p.Glu2431Val) rs1280884139 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.739A>G (p.Ser247Gly) rs747117144 0.00001
NM_138694.4(PKHD1):c.7410T>C (p.Ser2470=) rs1370325898 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.7482A>T (p.Gly2494=) rs199996156 0.00001
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=) rs746499996 0.00001
NM_138694.4(PKHD1):c.7593G>C (p.Leu2531=) rs773279567 0.00001
NM_138694.4(PKHD1):c.7600A>G (p.Lys2534Glu) rs1392464284 0.00001
NM_138694.4(PKHD1):c.7619T>C (p.Leu2540Pro) rs761681284 0.00001
NM_138694.4(PKHD1):c.7626T>C (p.Ser2542=) rs544539357 0.00001
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591 0.00001
NM_138694.4(PKHD1):c.7658A>G (p.Asn2553Ser) rs576001667 0.00001
NM_138694.4(PKHD1):c.7715A>T (p.His2572Leu) rs765237487 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.7733+15C>A rs771759749 0.00001
NM_138694.4(PKHD1):c.7742C>T (p.Thr2581Ile) rs1447744840 0.00001
NM_138694.4(PKHD1):c.7758T>C (p.Tyr2586=) rs769256062 0.00001
NM_138694.4(PKHD1):c.7766C>A (p.Thr2589Asn) rs1375719978 0.00001
NM_138694.4(PKHD1):c.779-4G>C rs903824497 0.00001
NM_138694.4(PKHD1):c.779-7C>G rs749068364 0.00001
NM_138694.4(PKHD1):c.7818A>C (p.Thr2606=) rs767241050 0.00001
NM_138694.4(PKHD1):c.7847T>C (p.Leu2616Pro) rs772556933 0.00001
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
NM_138694.4(PKHD1):c.7906C>T (p.Leu2636=) rs568173041 0.00001
NM_138694.4(PKHD1):c.7911+10G>T rs1349962269 0.00001
NM_138694.4(PKHD1):c.7912-4C>G rs199904719 0.00001
NM_138694.4(PKHD1):c.7938T>C (p.Ala2646=) rs755847061 0.00001
NM_138694.4(PKHD1):c.7989C>T (p.Asp2663=) rs950565294 0.00001
NM_138694.4(PKHD1):c.798A>C (p.Pro266=) rs752452008 0.00001
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947 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.8108-10T>C rs369344295 0.00001
NM_138694.4(PKHD1):c.8112A>T (p.Ser2704=) rs749153516 0.00001
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp) rs754533251 0.00001
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) rs759658629 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8212C>G (p.Leu2738Val) rs761723122 0.00001
NM_138694.4(PKHD1):c.8250A>G (p.Gly2750=) rs746690623 0.00001
NM_138694.4(PKHD1):c.8283T>A (p.Asp2761Glu) rs1381302226 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.8318T>G (p.Val2773Gly) rs1471306684 0.00001
NM_138694.4(PKHD1):c.8390A>G (p.Asn2797Ser) rs369941024 0.00001
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr) rs398124496 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_138694.4(PKHD1):c.8430G>A (p.Glu2810=) rs1188949424 0.00001
NM_138694.4(PKHD1):c.8466G>A (p.Lys2822=) rs974957771 0.00001
NM_138694.4(PKHD1):c.8484T>A (p.Ile2828=) rs1790939999 0.00001
NM_138694.4(PKHD1):c.8506G>A (p.Val2836Ile) rs749536372 0.00001
NM_138694.4(PKHD1):c.8532T>A (p.Ile2844=) rs941290574 0.00001
NM_138694.4(PKHD1):c.8554+10T>C rs756890131 0.00001
NM_138694.4(PKHD1):c.8554+1G>A rs1790925351 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.8562T>C (p.Tyr2854=) rs1245635020 0.00001
NM_138694.4(PKHD1):c.8622T>C (p.Asp2874=) rs1312568936 0.00001
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs) rs779168950 0.00001
NM_138694.4(PKHD1):c.8642+1G>A rs1485161784 0.00001
NM_138694.4(PKHD1):c.8643-7G>C rs775263962 0.00001
NM_138694.4(PKHD1):c.8671C>T (p.Arg2891Cys) rs148990124 0.00001
NM_138694.4(PKHD1):c.8679T>C (p.His2893=) rs1229318498 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.8788C>T (p.Arg2930Trp) rs752776137 0.00001
NM_138694.4(PKHD1):c.8798-10A>G rs1562235798 0.00001
NM_138694.4(PKHD1):c.880+9G>T rs374619722 0.00001
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=) rs1418482955 0.00001
NM_138694.4(PKHD1):c.881-7G>A rs776386120 0.00001
NM_138694.4(PKHD1):c.881-8C>T rs546145058 0.00001
NM_138694.4(PKHD1):c.8814G>A (p.Thr2938=) rs755169390 0.00001
NM_138694.4(PKHD1):c.8823C>G (p.Gly2941=) rs762630992 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.8825G>A (p.Arg2942Gln) rs772538453 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.8860A>G (p.Thr2954Ala) rs1292890415 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 0.00001
NM_138694.4(PKHD1):c.8948C>T (p.Ser2983Leu) rs141169758 0.00001
NM_138694.4(PKHD1):c.8955C>T (p.Val2985=) rs1324020809 0.00001
NM_138694.4(PKHD1):c.8988C>T (p.Phe2996=) rs576108391 0.00001
NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=) rs777095602 0.00001
NM_138694.4(PKHD1):c.903C>T (p.His301=) rs1389574069 0.00001
NM_138694.4(PKHD1):c.9087T>C (p.His3029=) rs767117867 0.00001
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) rs1374086784 0.00001
NM_138694.4(PKHD1):c.9177T>A (p.Thr3059=) rs1474156914 0.00001
NM_138694.4(PKHD1):c.9186T>C (p.Asn3062=) rs755873874 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.9283G>A (p.Val3095Ile) rs768508521 0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) rs757946548 0.00001
NM_138694.4(PKHD1):c.9300G>A (p.Glu3100=) rs1224475626 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.9320G>A (p.Arg3107Gln) rs751750213 0.00001
NM_138694.4(PKHD1):c.9327C>T (p.His3109=) rs1160858819 0.00001
NM_138694.4(PKHD1):c.9330G>A (p.Lys3110=) rs1400915471 0.00001
NM_138694.4(PKHD1):c.9339T>C (p.Ser3113=) rs763186740 0.00001
NM_138694.4(PKHD1):c.9371A>G (p.His3124Arg) rs373241537 0.00001
NM_138694.4(PKHD1):c.9414T>C (p.Leu3138=) rs1452500333 0.00001
NM_138694.4(PKHD1):c.9420C>T (p.Asn3140=) rs758547268 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.9465T>C (p.Tyr3155=) rs1404074777 0.00001
NM_138694.4(PKHD1):c.9561T>C (p.Ser3187=) rs1432213391 0.00001
NM_138694.4(PKHD1):c.9594T>A (p.Ile3198=) rs773854148 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile) rs1263208576 0.00001
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter) rs758732107 0.00001
NM_138694.4(PKHD1):c.966C>T (p.Thr322=) rs761885512 0.00001
NM_138694.4(PKHD1):c.9678G>A (p.Leu3226=) rs752654520 0.00001
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577 0.00001
NM_138694.4(PKHD1):c.977-1G>A rs1808864196 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503 0.00001
NM_138694.4(PKHD1):c.9830-10A>T rs1196987235 0.00001
NM_138694.4(PKHD1):c.9837C>T (p.Thr3279=) rs763551387 0.00001
NM_138694.4(PKHD1):c.9861C>T (p.Cys3287=) rs748369853 0.00001
NM_138694.4(PKHD1):c.9864T>C (p.Tyr3288=) rs1306350556 0.00001
NM_138694.4(PKHD1):c.9924A>G (p.Pro3308=) rs1263149452 0.00001
NM_138694.4(PKHD1):c.9957A>G (p.Ile3319Met) rs762304990 0.00001
NM_138694.4(PKHD1):c.9978C>T (p.Tyr3326=) rs1785239681 0.00001
NC_000006.11:g.(51514019_51523749)_(51524768_51609182)del
NC_000006.11:g.(51712769_51720690)_(51777375_51798907)dup
NC_000006.11:g.(51752044_51768394)_(51774273_51776596)del
NC_000006.11:g.(51924841_51927316)_(51927459_51929752)del
NC_000006.11:g.(?_51483869)_(51524777_?)del
NC_000006.11:g.(?_51483869)_(51949741_?)del
NC_000006.11:g.(?_51483879)_(51491934_?)dup
NC_000006.11:g.(?_51483879)_(51949731_?)del
NC_000006.11:g.(?_51491785)_(51609350_?)del
NC_000006.11:g.(?_51491828)_(51492507_?)del
NC_000006.11:g.(?_51497353)_(51524777_?)del
NC_000006.11:g.(?_51523740)_(51524777_?)del
NC_000006.11:g.(?_51586774)_(51752053_?)del
NC_000006.11:g.(?_51609163)_(51640739_?)dup
NC_000006.11:g.(?_51609173)_(51611697_?)del
NC_000006.11:g.(?_51611509)_(51611697_?)del
NC_000006.11:g.(?_51612575)_(51618161_?)del
NC_000006.11:g.(?_51612985)_(51637140_?)del
NC_000006.11:g.(?_51637490)_(51637597_?)del
NC_000006.11:g.(?_51637490)_(51640729_?)del
NC_000006.11:g.(?_51695649)_(51720878_?)del
NC_000006.11:g.(?_51701182)_(51701287_?)del
NC_000006.11:g.(?_51701192)_(51701277_?)del
NC_000006.11:g.(?_51732651)_(51752053_?)del
NC_000006.11:g.(?_51747238)_(51752053_?)del
NC_000006.11:g.(?_51747238)_(51777384_?)dup
NC_000006.11:g.(?_51750655)_(51768850_?)dup
NC_000006.11:g.(?_51768385)_(51799130_?)dup
NC_000006.11:g.(?_51798898)_(51824834_?)dup
NC_000006.11:g.(?_51875087)_(51882447_?)dup
NC_000006.11:g.(?_51917864)_(51924850_?)dup
NC_000006.11:g.(?_51924716)_(51924850_?)del
NC_000006.11:g.(?_51936903)_(51938349_?)del
NC_000006.11:g.(?_51949670)_(51949741_?)del
NC_000006.12:g.(?_51632545)_(51648138_?)del
NC_000006.12:g.(?_51855873)_(51912596_?)dup
NC_000006.12:g.(?_51959860)_(52010469_?)del
NC_000006.12:g.(?_52053066)_(52054175_?)del
NC_000006.12:g.(?_52055567)_(52055749_?)del
NC_000006.12:g.52082543del
NM_138694.3(PKHD1):c.-276A>C rs773740905
NM_138694.3(PKHD1):c.8108-?_8173+?del
NM_138694.4(PKHD1):c.*1023G>A rs185962129
NM_138694.4(PKHD1):c.*1130C>T rs181120541
NM_138694.4(PKHD1):c.*1335T>C rs886061603
NM_138694.4(PKHD1):c.*1492_*1497del rs886061601
NM_138694.4(PKHD1):c.*1589T>G rs886061600
NM_138694.4(PKHD1):c.*1592T>C rs1288662627
NM_138694.4(PKHD1):c.*1596C>T rs555042069
NM_138694.4(PKHD1):c.*1749C>T rs886061599
NM_138694.4(PKHD1):c.*1T>C rs369623770
NM_138694.4(PKHD1):c.*2064G>T rs141074474
NM_138694.4(PKHD1):c.*2463C>T rs1766092325
NM_138694.4(PKHD1):c.*2552_*2553dup rs113144792
NM_138694.4(PKHD1):c.*2553dup rs113144792
NM_138694.4(PKHD1):c.*2665C>A rs189302289
NM_138694.4(PKHD1):c.*2666G>A rs77036429
NM_138694.4(PKHD1):c.*2857A>C rs886061594
NM_138694.4(PKHD1):c.*3379A>G rs544667112
NM_138694.4(PKHD1):c.*3393C>A rs2784198
NM_138694.4(PKHD1):c.*3505AATT[1] rs552076092
NM_138694.4(PKHD1):c.*3520T>C rs886061591
NM_138694.4(PKHD1):c.*604C>A rs41273720
NM_138694.4(PKHD1):c.*760T>G rs886061607
NM_138694.4(PKHD1):c.-185A>G rs1812958193
NM_138694.4(PKHD1):c.10002A>G (p.Lys3334=) rs886061613
NM_138694.4(PKHD1):c.10005T>C (p.Asp3335=) rs2150962983
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp) rs1384539153
NM_138694.4(PKHD1):c.10020C>T (p.Val3340=) rs2150962883
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_138694.4(PKHD1):c.10050A>G (p.Arg3350=)
NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His)
NM_138694.4(PKHD1):c.10065G>A (p.Lys3355=)
NM_138694.4(PKHD1):c.10074T>C (p.Asp3358=)
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.1008T>C (p.Asp336=) rs2128219097
NM_138694.4(PKHD1):c.10091T>C (p.Leu3364Pro)
NM_138694.4(PKHD1):c.10092G>A (p.Leu3364=)
NM_138694.4(PKHD1):c.1009G>A (p.Ala337Thr)
NM_138694.4(PKHD1):c.10101A>G (p.Pro3367=) rs2150962367
NM_138694.4(PKHD1):c.10101A>T (p.Pro3367=)
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro) rs2150962340
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.1011T>G (p.Ala337=)
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs) rs1334145215
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter) rs2150962096
NM_138694.4(PKHD1):c.10140A>G (p.Ala3380=) rs2150962066
NM_138694.4(PKHD1):c.10143C>T (p.Ser3381=)
NM_138694.4(PKHD1):c.10146C>T (p.Phe3382=) rs2150961997
NM_138694.4(PKHD1):c.10149C>T (p.Phe3383=)
NM_138694.4(PKHD1):c.10151A>G (p.Asn3384Ser)
NM_138694.4(PKHD1):c.10153G>A (p.Ala3385Thr) rs200762675
NM_138694.4(PKHD1):c.10156+20A>C
NM_138694.4(PKHD1):c.10156+22398A>G rs1554206689
NM_138694.4(PKHD1):c.10156+8A>G
NM_138694.4(PKHD1):c.10157-14_10157-12del
NM_138694.4(PKHD1):c.10157-1G>T rs2150418842
NM_138694.4(PKHD1):c.10157-2A>G rs2150418852
NM_138694.4(PKHD1):c.10157-8T>C
NM_138694.4(PKHD1):c.10157-9C>T rs1581896913
NM_138694.4(PKHD1):c.10157-9_10157-5del rs1374480151
NM_138694.4(PKHD1):c.10158T>C (p.Gly3386=)
NM_138694.4(PKHD1):c.10161A>G (p.Thr3387=)
NM_138694.4(PKHD1):c.10179A>G (p.Lys3393=)
NM_138694.4(PKHD1):c.10180T>C (p.Cys3394Arg)
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr) rs1772559884
NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs) rs760260903
NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer) rs1554183763
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs) rs1057517249
NM_138694.4(PKHD1):c.10206A>T (p.Gly3402=)
NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu)
NM_138694.4(PKHD1):c.10209C>T (p.Phe3403=)
NM_138694.4(PKHD1):c.1020A>C (p.Gly340=)
NM_138694.4(PKHD1):c.10212C>T (p.Ile3404=)
NM_138694.4(PKHD1):c.10219C>G (p.Gln3407Glu) rs781368899
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
NM_138694.4(PKHD1):c.10227C>T (p.Asp3409=)
NM_138694.4(PKHD1):c.10228C>T (p.Gln3410Ter)
NM_138694.4(PKHD1):c.10230A>G (p.Gln3410=) rs1349645712
NM_138694.4(PKHD1):c.10233G>T (p.Val3411=) rs1162292670
NM_138694.4(PKHD1):c.10236C>G (p.Val3412=) rs758252697
NM_138694.4(PKHD1):c.10248T>C (p.Asp3416=)
NM_138694.4(PKHD1):c.10251C>A (p.Ser3417Arg)
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=) rs372394177
NM_138694.4(PKHD1):c.10252G>C (p.Ala3418Pro) rs776589273
NM_138694.4(PKHD1):c.10257T>C (p.Asp3419=) rs2150417980
NM_138694.4(PKHD1):c.10278G>A (p.Lys3426=)
NM_138694.4(PKHD1):c.10281A>G (p.Leu3427=) rs763463216
NM_138694.4(PKHD1):c.10284T>C (p.Tyr3428=)
NM_138694.4(PKHD1):c.10287A>C (p.Pro3429=)
NM_138694.4(PKHD1):c.10290T>G (p.Val3430=)
NM_138694.4(PKHD1):c.10293A>G (p.Val3431=)
NM_138694.4(PKHD1):c.10305T>C (p.Ser3435=)
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp) rs756792624
NM_138694.4(PKHD1):c.10320C>G (p.Val3440=)
NM_138694.4(PKHD1):c.10320C>T (p.Val3440=) rs368317856
NM_138694.4(PKHD1):c.10323T>C (p.Phe3441=) rs1389754876
NM_138694.4(PKHD1):c.10326C>A (p.Ser3442Arg) rs1581895338
NM_138694.4(PKHD1):c.10326C>T (p.Ser3442=) rs1581895338
NM_138694.4(PKHD1):c.10329T>C (p.Ser3443=)
NM_138694.4(PKHD1):c.1032T>C (p.Thr344=)
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.10334del (p.Asn3445fs) rs2150417202
NM_138694.4(PKHD1):c.10335T>C (p.Asn3445=) rs1484970104
NM_138694.4(PKHD1):c.10338C>T (p.Ala3446=) rs2150417110
NM_138694.4(PKHD1):c.10344T>C (p.Ile3448=)
NM_138694.4(PKHD1):c.10347C>T (p.Pro3449=) rs1772524168
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10356T>C (p.Thr3452=) rs2150416998
NM_138694.4(PKHD1):c.10362G>A (p.Gly3454=) rs2150416958
NM_138694.4(PKHD1):c.10365A>G (p.Ser3455=) rs768584059
NM_138694.4(PKHD1):c.10386C>T (p.Ile3462=)
NM_138694.4(PKHD1):c.10387T>C (p.Leu3463=)
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)
NM_138694.4(PKHD1):c.10388T>C (p.Leu3463Ser) rs1772516071
NM_138694.4(PKHD1):c.1038C>T (p.Ala346=)
NM_138694.4(PKHD1):c.10392C>T (p.Pro3464=)
NM_138694.4(PKHD1):c.10392del (p.Ile3465fs) rs2150416702
NM_138694.4(PKHD1):c.10393_10394insG (p.Ile3465fs)
NM_138694.4(PKHD1):c.10398G>A (p.Arg3466=)
NM_138694.4(PKHD1):c.10401A>G (p.Gln3467=)
NM_138694.4(PKHD1):c.10404C>T (p.Ile3468=) rs2150416584
NM_138694.4(PKHD1):c.10407C>T (p.Thr3469=)
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile) rs553752644
NM_138694.4(PKHD1):c.10411del (p.Val3471fs) rs1554183588
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly) rs1772510920
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs) rs1057516835
NM_138694.4(PKHD1):c.10443del (p.Leu3481fs) rs1554183559
NM_138694.4(PKHD1):c.10446C>A (p.Arg3482=) rs1396126148
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10455A>G (p.Leu3485=)
NM_138694.4(PKHD1):c.10455A>T (p.Leu3485=) rs1412400979
NM_138694.4(PKHD1):c.10461G>A (p.Gly3487=) rs2150416145
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs) rs1057517326
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) rs1581894231
NM_138694.4(PKHD1):c.10467A>G (p.Lys3489=) rs2150416076
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr) rs149486694
NM_138694.4(PKHD1):c.10471A>C (p.Thr3491Pro) rs533977466
NM_138694.4(PKHD1):c.10475C>T (p.Ser3492Phe) rs1772497198
NM_138694.4(PKHD1):c.10479G>A (p.Lys3493=)
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.10485C>G (p.Leu3495=)
NM_138694.4(PKHD1):c.10494A>G (p.Val3498=)
NM_138694.4(PKHD1):c.10503T>C (p.His3501=) rs2150415751
NM_138694.4(PKHD1):c.10505A>T (p.Glu3502Val) rs1554183496
NM_138694.4(PKHD1):c.10509C>A (p.Leu3503=) rs1772492211
NM_138694.4(PKHD1):c.10509C>T (p.Leu3503=)
NM_138694.4(PKHD1):c.10512G>A (p.Gln3504=)
NM_138694.4(PKHD1):c.10515C>G (p.Ser3505Arg) rs139014478
NM_138694.4(PKHD1):c.1051A>C (p.Arg351=)
NM_138694.4(PKHD1):c.10522G>A (p.Val3508Ile)
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs) rs1554183480
NM_138694.4(PKHD1):c.10524C>A (p.Val3508=) rs1562042503
NM_138694.4(PKHD1):c.10524CTT[1] (p.Phe3509del) rs1345766794
NM_138694.4(PKHD1):c.10529T>G (p.Leu3510Ter)
NM_138694.4(PKHD1):c.10533G>A (p.Gly3511=)
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=) rs1581893486
NM_138694.4(PKHD1):c.10551C>A (p.Pro3517=) rs951721125
NM_138694.4(PKHD1):c.10557G>A (p.Leu3519=)
NM_138694.4(PKHD1):c.10557G>T (p.Leu3519=)
NM_138694.4(PKHD1):c.10561C>T (p.Gln3521Ter) rs2150415240
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs) rs1554183446
NM_138694.4(PKHD1):c.10563G>A (p.Gln3521=)
NM_138694.4(PKHD1):c.10571C>T (p.Ser3524Phe) rs1554183437
NM_138694.4(PKHD1):c.10576T>C (p.Leu3526=) rs2150415149
NM_138694.4(PKHD1):c.10584T>C (p.Asn3528=)
NM_138694.4(PKHD1):c.10599C>A (p.Ala3533=)
NM_138694.4(PKHD1):c.10599C>T (p.Ala3533=) rs2150415018
NM_138694.4(PKHD1):c.10602C>T (p.Asn3534=)
NM_138694.4(PKHD1):c.10613T>A (p.Ile3538Asn) rs2150414899
NM_138694.4(PKHD1):c.10614C>T (p.Ile3538=)
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=) rs2150414839
NM_138694.4(PKHD1):c.10626C>T (p.Leu3542=) rs756511422
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser) rs1554183398
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10638C>T (p.Val3546=) rs2150414721
NM_138694.4(PKHD1):c.1063G>T (p.Val355Phe) rs864622679
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
NM_138694.4(PKHD1):c.10656C>T (p.Pro3552=) rs2150414558
NM_138694.4(PKHD1):c.10657A>G (p.Ile3553Val)
NM_138694.4(PKHD1):c.1065C>T (p.Val355=) rs2128218982
NM_138694.4(PKHD1):c.10673del (p.Gly3558fs) rs2150414452
NM_138694.4(PKHD1):c.10687T>C (p.Leu3563=)
NM_138694.4(PKHD1):c.10688T>G (p.Leu3563Trp)
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter) rs1554219449
NM_138694.4(PKHD1):c.10698T>G (p.Thr3566=)
NM_138694.4(PKHD1):c.10701G>A (p.Val3567=) rs2150414169
NM_138694.4(PKHD1):c.10701G>T (p.Val3567=) rs2150414169
NM_138694.4(PKHD1):c.10708del (p.Ser3570fs)
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter) rs1057516345
NM_138694.4(PKHD1):c.10717G>C (p.Glu3573Gln) rs1772450315
NM_138694.4(PKHD1):c.10722del (p.Gly3575fs)
NM_138694.4(PKHD1):c.10724G>T (p.Gly3575Val) rs886061611
NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer) rs1554183320
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=) rs555442845
NM_138694.4(PKHD1):c.10743C>G (p.Leu3581=)
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10746A>G (p.Glu3582=) rs886038724
NM_138694.4(PKHD1):c.10752A>G (p.Leu3584=)
NM_138694.4(PKHD1):c.10755T>C (p.Thr3585=) rs2150413785
NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs) rs1195276132
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter) rs780182068
NM_138694.4(PKHD1):c.10767G>A (p.Gln3589=)
NM_138694.4(PKHD1):c.10773C>G (p.Gly3591=)
NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter)
NM_138694.4(PKHD1):c.10776A>G (p.Gln3592=)
NM_138694.4(PKHD1):c.10798G>A (p.Glu3600Lys)
NM_138694.4(PKHD1):c.10806T>C (p.Pro3602=)
NM_138694.4(PKHD1):c.10821C>T (p.Thr3607=)
NM_138694.4(PKHD1):c.10824A>G (p.Leu3608=)
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs) rs1057516652
NM_138694.4(PKHD1):c.10830C>G (p.Ala3610=) rs1581891327
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu) rs1298906012
NM_138694.4(PKHD1):c.10837G>A (p.Asp3613Asn)
NM_138694.4(PKHD1):c.10842T>C (p.Ser3614=) rs1328224796
NM_138694.4(PKHD1):c.10844G>A (p.Arg3615Lys)
NM_138694.4(PKHD1):c.10848A>C (p.Ala3616=)
NM_138694.4(PKHD1):c.10850_10862dup (p.Asn3621fs)
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) rs1554183240
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) rs1554183235
NM_138694.4(PKHD1):c.10857G>A (p.Lys3619=) rs1353113121
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.1085T>G (p.Phe362Cys) rs752514286
NM_138694.4(PKHD1):c.10860C>T (p.Arg3620=)
NM_138694.4(PKHD1):c.10863T>C (p.Asn3621=) rs1162414711
NM_138694.4(PKHD1):c.10870A>G (p.Thr3624Ala)
NM_138694.4(PKHD1):c.10872T>C (p.Thr3624=) rs1772414615
NM_138694.4(PKHD1):c.10883C>G (p.Thr3628Ser)
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile) rs147700643
NM_138694.4(PKHD1):c.10884T>A (p.Thr3628=)
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer) rs1554183204
NM_138694.4(PKHD1):c.10894A>T (p.Arg3632Ter)
NM_138694.4(PKHD1):c.10899A>G (p.Arg3633=) rs1355929152
NM_138694.4(PKHD1):c.108G>T (p.Thr36=)
NM_138694.4(PKHD1):c.10925T>C (p.Met3642Thr) rs1554183164
NM_138694.4(PKHD1):c.10929A>G (p.Glu3643=)
NM_138694.4(PKHD1):c.10937C>G (p.Ser3646Ter)
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs) rs765390756
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter) rs1554219429
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs) rs1057517047
NM_138694.4(PKHD1):c.10976C>G (p.Ser3659Ter) rs1562040106
NM_138694.4(PKHD1):c.10980A>G (p.Lys3660=)
NM_138694.4(PKHD1):c.10984_10987del (p.Ile3662fs) rs1772384576
NM_138694.4(PKHD1):c.10986T>C (p.Ile3662=)
NM_138694.4(PKHD1):c.10992T>C (p.Ile3664=)
NM_138694.4(PKHD1):c.11004T>C (p.Asp3668=)
NM_138694.4(PKHD1):c.11006C>T (p.Ser3669Leu)
NM_138694.4(PKHD1):c.11010A>G (p.Pro3670=)
NM_138694.4(PKHD1):c.11013A>T (p.Thr3671=)
NM_138694.4(PKHD1):c.1101G>A (p.Gln367=) rs201757748
NM_138694.4(PKHD1):c.11022C>T (p.Ser3674=)
NM_138694.4(PKHD1):c.1102G>A (p.Glu368Lys)
NM_138694.4(PKHD1):c.11037A>C (p.Ser3679=) rs1204544455
NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=) rs1204544455
NM_138694.4(PKHD1):c.11040C>A (p.Ser3680=)
NM_138694.4(PKHD1):c.11040C>T (p.Ser3680=) rs1772372632
NM_138694.4(PKHD1):c.11044T>C (p.Ser3682Pro)
NM_138694.4(PKHD1):c.11046A>C (p.Ser3682=)
NM_138694.4(PKHD1):c.11046A>G (p.Ser3682=)
NM_138694.4(PKHD1):c.11060delinsTT (p.Gln3687fs)
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11078T>G (p.Val3693Gly)
NM_138694.4(PKHD1):c.11088T>C (p.Ala3696=)
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
NM_138694.4(PKHD1):c.11091A>G (p.Gln3697=)
NM_138694.4(PKHD1):c.1110A>G (p.Gln370=) rs976228766
NM_138694.4(PKHD1):c.11113G>A (p.Val3705Ile) rs113697159
NM_138694.4(PKHD1):c.11136C>G (p.Ala3712=)
NM_138694.4(PKHD1):c.11136C>T (p.Ala3712=)
NM_138694.4(PKHD1):c.11142A>G (p.Leu3714=) rs1772352719
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs) rs1554183012
NM_138694.4(PKHD1):c.11169C>A (p.Gly3723=)
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) rs1582038191
NM_138694.4(PKHD1):c.11174+13T>C rs2150410720
NM_138694.4(PKHD1):c.11174+18T>C
NM_138694.4(PKHD1):c.11174+19C>T
NM_138694.4(PKHD1):c.11174+2T>C rs2150410774
NM_138694.4(PKHD1):c.11174+7A>C rs1772347758
NM_138694.4(PKHD1):c.11174+9T>G
NM_138694.4(PKHD1):c.11174_11175-4798del
NM_138694.4(PKHD1):c.11175-12T>C rs1424171216
NM_138694.4(PKHD1):c.11175-16T>C
NM_138694.4(PKHD1):c.11175-17G>A
NM_138694.4(PKHD1):c.11175-2A>G
NM_138694.4(PKHD1):c.11178T>A (p.Asn3726Lys)
NM_138694.4(PKHD1):c.1118+1G>T rs1808826795
NM_138694.4(PKHD1):c.1118+9T>G rs1179399370
NM_138694.4(PKHD1):c.1119-15T>C
NM_138694.4(PKHD1):c.1119-16A>G
NM_138694.4(PKHD1):c.1119-17T>C
NM_138694.4(PKHD1):c.1119-20C>A
NM_138694.4(PKHD1):c.1119-4A>G rs2128215709
NM_138694.4(PKHD1):c.1119-7T>G
NM_138694.4(PKHD1):c.1119-9A>G rs1190120876
NM_138694.4(PKHD1):c.11190T>C (p.Phe3730=)
NM_138694.4(PKHD1):c.11193A>G (p.Lys3731=) rs2150367323
NM_138694.4(PKHD1):c.11202C>T (p.Asn3734=)
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs) rs1554176517
NM_138694.4(PKHD1):c.11217G>A (p.Arg3739=) rs958665190
NM_138694.4(PKHD1):c.11217G>T (p.Arg3739=) rs958665190
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.11219C>T (p.Pro3740Leu) rs2150367118
NM_138694.4(PKHD1):c.11220C>T (p.Pro3740=) rs1770533755
NM_138694.4(PKHD1):c.11223T>G (p.Tyr3741Ter) rs778676351
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro) rs1320401077
NM_138694.4(PKHD1):c.11241C>T (p.Val3747=) rs2150366969
NM_138694.4(PKHD1):c.11247T>G (p.Pro3749=) rs2150366924
NM_138694.4(PKHD1):c.11252A>T (p.Asp3751Val)
NM_138694.4(PKHD1):c.11255G>C (p.Gly3752Ala)
NM_138694.4(PKHD1):c.1125G>C (p.Arg375=) rs1265981778
NM_138694.4(PKHD1):c.11271G>A (p.Glu3757=) rs2150366821
NM_138694.4(PKHD1):c.11274T>C (p.Leu3758=) rs2150366813
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs) rs1554176343
NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu)
NM_138694.4(PKHD1):c.11289A>G (p.Gln3763=) rs761950483
NM_138694.4(PKHD1):c.11307G>T (p.Glu3769Asp) rs1489049173
NM_138694.4(PKHD1):c.11310+11A>G
NM_138694.4(PKHD1):c.11310+12C>A
NM_138694.4(PKHD1):c.11310+15G>A
NM_138694.4(PKHD1):c.11310+15G>T
NM_138694.4(PKHD1):c.11310+1G>C rs1365407882
NM_138694.4(PKHD1):c.11310+20A>G
NM_138694.4(PKHD1):c.11310+8T>G rs2150366228
NM_138694.4(PKHD1):c.11310G>C (p.Gln3770His)
NM_138694.4(PKHD1):c.11311-10C>T
NM_138694.4(PKHD1):c.11311-11C>T
NM_138694.4(PKHD1):c.11311-15T>G
NM_138694.4(PKHD1):c.11311-16C>G
NM_138694.4(PKHD1):c.11311-17C>T
NM_138694.4(PKHD1):c.11311-20C>T
NM_138694.4(PKHD1):c.11311-2A>G rs1554174903
NM_138694.4(PKHD1):c.11314C>A (p.Arg3772=) rs199839578
NM_138694.4(PKHD1):c.11319A>T (p.Arg3773Ser)
NM_138694.4(PKHD1):c.1131T>G (p.Ser377Arg)
NM_138694.4(PKHD1):c.1131_1132insA (p.Gly378fs) rs2128215670
NM_138694.4(PKHD1):c.11322A>G (p.Val3774=) rs1388812392
NM_138694.4(PKHD1):c.11325G>A (p.Glu3775=)
NM_138694.4(PKHD1):c.11328C>T (p.Ser3776=) rs2150363216
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs) rs1554174796
NM_138694.4(PKHD1):c.11331G>T (p.Leu3777=) rs1445856949
NM_138694.4(PKHD1):c.11337T>A (p.Pro3779=) rs2150363135
NM_138694.4(PKHD1):c.11343A>G (p.Ser3781=)
NM_138694.4(PKHD1):c.11349A>G (p.Pro3783=) rs2150363058
NM_138694.4(PKHD1):c.11361A>G (p.Ser3787=) rs779333397
NM_138694.4(PKHD1):c.11364T>C (p.Ala3788=)
NM_138694.4(PKHD1):c.11364T>G (p.Ala3788=)
NM_138694.4(PKHD1):c.11368C>T (p.Leu3790=) rs2150362985
NM_138694.4(PKHD1):c.1136dup (p.Phe380fs)
NM_138694.4(PKHD1):c.11370G>A (p.Leu3790=)
NM_138694.4(PKHD1):c.11379A>G (p.Ala3793=) rs2150362943
NM_138694.4(PKHD1):c.1137C>T (p.Phe379=)
NM_138694.4(PKHD1):c.11383G>A (p.Asp3795Asn)
NM_138694.4(PKHD1):c.11385C>T (p.Asp3795=) rs1441850377
NM_138694.4(PKHD1):c.11387C>T (p.Ser3796Leu)
NM_138694.4(PKHD1):c.11388A>C (p.Ser3796=)
NM_138694.4(PKHD1):c.11388A>G (p.Ser3796=) rs1581825562
NM_138694.4(PKHD1):c.11398+13T>C
NM_138694.4(PKHD1):c.11398+15del
NM_138694.4(PKHD1):c.11398+7A>G
NM_138694.4(PKHD1):c.11399-10T>C
NM_138694.4(PKHD1):c.11399-10dup rs2150329687
NM_138694.4(PKHD1):c.11399-12A>G
NM_138694.4(PKHD1):c.11399-12A>T
NM_138694.4(PKHD1):c.11399-17T>C
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu) rs1554169587
NM_138694.4(PKHD1):c.11400G>T (p.Gly3800=) rs149427926
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter) rs1215290114
NM_138694.4(PKHD1):c.11408dup (p.Ala3804fs) rs2150329535
NM_138694.4(PKHD1):c.11415A>G (p.Glu3805=)
NM_138694.4(PKHD1):c.11416del (p.Thr3806fs)
NM_138694.4(PKHD1):c.11430T>C (p.Tyr3810=)
NM_138694.4(PKHD1):c.11435_11441del (p.Ser3812fs)
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs) rs1554169567
NM_138694.4(PKHD1):c.1143G>A (p.Val381=)
NM_138694.4(PKHD1):c.11446T>C (p.Leu3816=)
NM_138694.4(PKHD1):c.11451A>C (p.Ala3817=)
NM_138694.4(PKHD1):c.11451A>G (p.Ala3817=)
NM_138694.4(PKHD1):c.11451A>T (p.Ala3817=)
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.11454C>T (p.Val3818=) rs2150329240
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter) rs2150329160
NM_138694.4(PKHD1):c.1146T>C (p.Ala382=)
NM_138694.4(PKHD1):c.11472C>T (p.Asn3824=) rs2150329148
NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter) rs1768958447
NM_138694.4(PKHD1):c.11477A>G (p.His3826Arg) rs1012338385
NM_138694.4(PKHD1):c.11481T>C (p.Phe3827=)
NM_138694.4(PKHD1):c.11483T>C (p.Ile3828Thr)
NM_138694.4(PKHD1):c.11487T>C (p.Phe3829=)
NM_138694.4(PKHD1):c.11490T>G (p.Thr3830=)
NM_138694.4(PKHD1):c.11499T>C (p.Ser3833=) rs2150328991
NM_138694.4(PKHD1):c.1149A>C (p.Pro383=) rs772759635
NM_138694.4(PKHD1):c.1149A>G (p.Pro383=) rs772759635
NM_138694.4(PKHD1):c.11506+10T>C rs1768953580
NM_138694.4(PKHD1):c.11506+12C>T
NM_138694.4(PKHD1):c.11506+16G>A
NM_138694.4(PKHD1):c.11506+18G>A
NM_138694.4(PKHD1):c.11506+19C>A
NM_138694.4(PKHD1):c.11506+32dup rs376358912
NM_138694.4(PKHD1):c.11506+9A>T
NM_138694.4(PKHD1):c.11507-10C>G rs1768075438
NM_138694.4(PKHD1):c.11507-12del rs771337119
NM_138694.4(PKHD1):c.11507-14T>G
NM_138694.4(PKHD1):c.11507-16C>A
NM_138694.4(PKHD1):c.11507-16_11507-14del
NM_138694.4(PKHD1):c.11507-1G>A rs2150304734
NM_138694.4(PKHD1):c.11507-2A>T
NM_138694.4(PKHD1):c.11507-4A>C rs570641132
NM_138694.4(PKHD1):c.11507-6C>T rs2150304766
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.11507-9C>T rs1041335451
NM_138694.4(PKHD1):c.11511C>G (p.Val3837=)
NM_138694.4(PKHD1):c.11517T>C (p.Phe3839=)
NM_138694.4(PKHD1):c.11525G>A (p.Arg3842Gln) rs76572975
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.11526A>C (p.Arg3842=) rs2150304592
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser) rs548244367
NM_138694.4(PKHD1):c.11553G>A (p.Val3851=) rs772449007
NM_138694.4(PKHD1):c.11563_11565del (p.Glu3855del)
NM_138694.4(PKHD1):c.11566A>T (p.Lys3856Ter) rs1409782065
NM_138694.4(PKHD1):c.11571G>C (p.Ser3857=) rs749306806
NM_138694.4(PKHD1):c.11577C>T (p.Ile3859=)
NM_138694.4(PKHD1):c.1157del (p.Asn386fs) rs2128215604
NM_138694.4(PKHD1):c.11580C>A (p.Ile3860=)
NM_138694.4(PKHD1):c.11589T>C (p.Ala3863=) rs2150304215
NM_138694.4(PKHD1):c.11592C>A (p.Ser3864=) rs2150304202
NM_138694.4(PKHD1):c.11593C>T (p.Leu3865=) rs2150304186
NM_138694.4(PKHD1):c.11595G>A (p.Leu3865=)
NM_138694.4(PKHD1):c.11598C>G (p.Ser3866=)
NM_138694.4(PKHD1):c.11607C>A (p.Ala3869=) rs752509045
NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile)
NM_138694.4(PKHD1):c.11610A>G (p.Ser3870=) rs1267285790
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) rs1554167673
NM_138694.4(PKHD1):c.11613G>A (p.Trp3871Ter)
NM_138694.4(PKHD1):c.11614C>T (p.Leu3872=)
NM_138694.4(PKHD1):c.11619T>A (p.Ala3873=)
NM_138694.4(PKHD1):c.11625C>T (p.Ser3875=) rs2150303981
NM_138694.4(PKHD1):c.11652A>G (p.Arg3884=) rs2150303878
NM_138694.4(PKHD1):c.11665+13T>G
NM_138694.4(PKHD1):c.11665+16T>A
NM_138694.4(PKHD1):c.11665+17T>G
NM_138694.4(PKHD1):c.11665+17_11665+18dup
NM_138694.4(PKHD1):c.11665+18T>A
NM_138694.4(PKHD1):c.11665+18del
NM_138694.4(PKHD1):c.11665+8G>T
NM_138694.4(PKHD1):c.11665+9dup rs373325476
NM_138694.4(PKHD1):c.11666-10A>G
NM_138694.4(PKHD1):c.11666-14C>A
NM_138694.4(PKHD1):c.11666-17C>G
NM_138694.4(PKHD1):c.11666-17del
NM_138694.4(PKHD1):c.11666-593_11752del rs2150277532
NM_138694.4(PKHD1):c.11666-7A>G
NM_138694.4(PKHD1):c.11668A>G (p.Thr3890Ala) rs2150278411
NM_138694.4(PKHD1):c.11670A>G (p.Thr3890=)
NM_138694.4(PKHD1):c.11685del (p.Pro3896fs)
NM_138694.4(PKHD1):c.11691A>G (p.Glu3897=) rs1767339238
NM_138694.4(PKHD1):c.11697G>A (p.Gln3899=)
NM_138694.4(PKHD1):c.11697_11785+527delinsTTAGG
NM_138694.4(PKHD1):c.11709A>G (p.Gln3903=) rs1767335404
NM_138694.4(PKHD1):c.11712T>C (p.Asn3904=) rs778301360
NM_138694.4(PKHD1):c.11721C>T (p.Ile3907=)
NM_138694.4(PKHD1):c.11733C>G (p.Ser3911=)
NM_138694.4(PKHD1):c.11736A>G (p.Lys3912=)
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11760A>G (p.Lys3920=)
NM_138694.4(PKHD1):c.11763A>G (p.Lys3921=) rs2150277345
NM_138694.4(PKHD1):c.11766del (p.Asp3923fs)
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly) rs1561981487
NM_138694.4(PKHD1):c.11769C>T (p.Asp3923=) rs2150277302
NM_138694.4(PKHD1):c.11774_11775del (p.Val3925fs) rs1554165849
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11785+11A>C
NM_138694.4(PKHD1):c.11785+12G>A
NM_138694.4(PKHD1):c.11785+13G>A
NM_138694.4(PKHD1):c.11785+17G>A
NM_138694.4(PKHD1):c.11785+18A>G
NM_138694.4(PKHD1):c.11785+19G>T
NM_138694.4(PKHD1):c.11785+1G>T rs1488844530
NM_138694.4(PKHD1):c.11785+20A>G
NM_138694.4(PKHD1):c.11786-16T>C
NM_138694.4(PKHD1):c.11786-17A>G
NM_138694.4(PKHD1):c.11786-18T>G
NM_138694.4(PKHD1):c.11786-20C>T
NM_138694.4(PKHD1):c.11786-21_11786-10del
NM_138694.4(PKHD1):c.11786-2del rs1554163591
NM_138694.4(PKHD1):c.11786-3del rs1451393969
NM_138694.4(PKHD1):c.11786-3dup rs1451393969
NM_138694.4(PKHD1):c.11786-4C>A rs777439001
NM_138694.4(PKHD1):c.11786-4C>G rs777439001
NM_138694.4(PKHD1):c.11786-5C>T
NM_138694.4(PKHD1):c.11786-6C>G
NM_138694.4(PKHD1):c.11786-6C>T rs1466513302
NM_138694.4(PKHD1):c.11786-8C>A
NM_138694.4(PKHD1):c.11786-9del
NM_138694.4(PKHD1):c.11799G>A (p.Lys3933=) rs1766347811
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr) rs1582024305
NM_138694.4(PKHD1):c.11811C>A (p.Gly3937=) rs779069598
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=) rs779069598
NM_138694.4(PKHD1):c.11820C>T (p.Asn3940=)
NM_138694.4(PKHD1):c.11821C>T (p.Gln3941Ter)
NM_138694.4(PKHD1):c.11826C>T (p.Cys3942=)
NM_138694.4(PKHD1):c.11828C>G (p.Pro3943Arg) rs2150241950
NM_138694.4(PKHD1):c.11830del (p.His3944fs) rs774086520
NM_138694.4(PKHD1):c.11832C>T (p.His3944=)
NM_138694.4(PKHD1):c.11850G>A (p.Val3950=)
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe) rs769223833
NM_138694.4(PKHD1):c.11865T>C (p.Val3955=) rs2150241621
NM_138694.4(PKHD1):c.11871C>T (p.Arg3957=) rs2150241531
NM_138694.4(PKHD1):c.11877T>C (p.Ile3959=) rs2150241501
NM_138694.4(PKHD1):c.11883A>T (p.Arg3961=)
NM_138694.4(PKHD1):c.11885A>G (p.Glu3962Gly) rs886061608
NM_138694.4(PKHD1):c.11886G>A (p.Glu3962=) rs2150241367
NM_138694.4(PKHD1):c.11888A>T (p.Glu3963Val)
NM_138694.4(PKHD1):c.11896G>A (p.Ala3966Thr)
NM_138694.4(PKHD1):c.11899_11907del (p.Val3967_Ala3969del) rs1457757188
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=) rs751385266
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=) rs2150241037
NM_138694.4(PKHD1):c.11935G>A (p.Gly3979Arg) rs2150240920
NM_138694.4(PKHD1):c.11937G>C (p.Gly3979=) rs1766326928
NM_138694.4(PKHD1):c.11937G>T (p.Gly3979=)
NM_138694.4(PKHD1):c.11952A>G (p.Pro3984=)
NM_138694.4(PKHD1):c.11952_11954del (p.Gly3985del) rs1329790948
NM_138694.4(PKHD1):c.11958T>A (p.Ala3986=) rs1766324047
NM_138694.4(PKHD1):c.11961T>G (p.Pro3987=)
NM_138694.4(PKHD1):c.1197C>T (p.Ser399=) rs1582024119
NM_138694.4(PKHD1):c.1197del (p.Leu400fs) rs766857175
NM_138694.4(PKHD1):c.11986_12003del (p.Thr3996_Glu4001del) rs1554163379
NM_138694.4(PKHD1):c.11991G>A (p.Gly3997=) rs2150240397
NM_138694.4(PKHD1):c.11991G>C (p.Gly3997=) rs2150240397
NM_138694.4(PKHD1):c.11994C>T (p.Asn3998=)
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.12014A>C (p.Gln4005Pro)
NM_138694.4(PKHD1):c.12021C>T (p.Leu4007=) rs761543328
NM_138694.4(PKHD1):c.12030G>A (p.Gln4010=) rs1232544199
NM_138694.4(PKHD1):c.12052C>T (p.Leu4018=) rs2150239728
NM_138694.4(PKHD1):c.12057G>A (p.Leu4019=)
NM_138694.4(PKHD1):c.1205del (p.Phe402fs) rs1057517178
NM_138694.4(PKHD1):c.12069C>T (p.Asp4023=) rs781101323
NM_138694.4(PKHD1):c.12084G>A (p.Arg4028=) rs2150239512
NM_138694.4(PKHD1):c.12099del (p.Gln4034fs) rs1554163298
NM_138694.4(PKHD1):c.12106C>A (p.Arg4036=)
NM_138694.4(PKHD1):c.12108G>A (p.Arg4036=)
NM_138694.4(PKHD1):c.12108G>T (p.Arg4036=) rs752237108
NM_138694.4(PKHD1):c.12118C>T (p.Gln4040Ter) rs1554163280
NM_138694.4(PKHD1):c.12120A>C (p.Gln4040His)
NM_138694.4(PKHD1):c.12129C>T (p.Ser4043=) rs2150239185
NM_138694.4(PKHD1):c.12135G>A (p.Gly4045=)
NM_138694.4(PKHD1):c.12135G>T (p.Gly4045=)
NM_138694.4(PKHD1):c.12141C>T (p.Ser4047=)
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=) rs1561967407
NM_138694.4(PKHD1):c.12156C>T (p.Ala4052=) rs2150238899
NM_138694.4(PKHD1):c.1215A>G (p.Ser405=) rs1582023947
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter) rs745888824
NM_138694.4(PKHD1):c.12166del (p.Ala4056fs) rs1554163223
NM_138694.4(PKHD1):c.12168C>T (p.Ala4056=)
NM_138694.4(PKHD1):c.12174G>A (p.Glu4058=) rs1766290025
NM_138694.4(PKHD1):c.12180C>T (p.Phe4060=) rs2150238636
NM_138694.4(PKHD1):c.12183C>T (p.Cys4061=)
NM_138694.4(PKHD1):c.12189T>C (p.His4063=) rs2150238582
NM_138694.4(PKHD1):c.12192A>G (p.Ser4064=) rs2150238541
NM_138694.4(PKHD1):c.12195A>G (p.Val4065=) rs1309328277
NM_138694.4(PKHD1):c.12216G>A (p.Glu4072=) rs1414284194
NM_138694.4(PKHD1):c.12222G>A (p.Leu4074=)
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) rs1808421350
NM_138694.4(PKHD1):c.1233+14T>G
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1233+6dup
NM_138694.4(PKHD1):c.1233+8C>G rs1363285265
NM_138694.4(PKHD1):c.1233+99_1694-441del
NM_138694.4(PKHD1):c.1234-10T>C rs4715272
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC rs1554217929
NM_138694.4(PKHD1):c.1234-16G>A
NM_138694.4(PKHD1):c.1234-17T>C
NM_138694.4(PKHD1):c.1234-19T>C
NM_138694.4(PKHD1):c.1234-4A>G
NM_138694.4(PKHD1):c.1236G>C (p.Val412=)
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1251C>T (p.Ile417=)
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile) rs138672830
NM_138694.4(PKHD1):c.1258G>A (p.Gly420Ser)
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg) rs140458350
NM_138694.4(PKHD1):c.1260del (p.Thr421fs)
NM_138694.4(PKHD1):c.126del (p.Phe42fs) rs760586271
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
NM_138694.4(PKHD1):c.1275T>C (p.Phe425=) rs1582013811
NM_138694.4(PKHD1):c.1278C>T (p.Asp426=) rs199527252
NM_138694.4(PKHD1):c.1287G>A (p.Glu429=)
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter) rs2128212671
NM_138694.4(PKHD1):c.1296G>A (p.Arg432=)
NM_138694.4(PKHD1):c.130+11G>A
NM_138694.4(PKHD1):c.130+11G>T
NM_138694.4(PKHD1):c.130+12T>A
NM_138694.4(PKHD1):c.130+12T>C
NM_138694.4(PKHD1):c.130+16A>G
NM_138694.4(PKHD1):c.130+16dup
NM_138694.4(PKHD1):c.130+17C>T
NM_138694.4(PKHD1):c.130+7T>G rs756215641
NM_138694.4(PKHD1):c.130+8G>T rs2128244571
NM_138694.4(PKHD1):c.1305del (p.Thr436fs) rs1808150555
NM_138694.4(PKHD1):c.1308C>G (p.Thr436=) rs2128212610
NM_138694.4(PKHD1):c.131-10C>T
NM_138694.4(PKHD1):c.131-11C>T
NM_138694.4(PKHD1):c.131-12C>T
NM_138694.4(PKHD1):c.131-16C>A
NM_138694.4(PKHD1):c.131-5G>A
NM_138694.4(PKHD1):c.1317G>A (p.Gln439=)
NM_138694.4(PKHD1):c.1326C>T (p.Pro442=)
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg) rs1554217772
NM_138694.4(PKHD1):c.1338G>C (p.Leu446=)
NM_138694.4(PKHD1):c.1338del (p.Leu447fs) rs1582013246
NM_138694.4(PKHD1):c.1339T>C (p.Leu447=) rs1211005789
NM_138694.4(PKHD1):c.134_154delinsAG (p.Leu45_Pro52delinsTer) rs1812193678
NM_138694.4(PKHD1):c.1350del (p.Met451fs)
NM_138694.4(PKHD1):c.1353G>A (p.Met451Ile) rs886061622
NM_138694.4(PKHD1):c.1356C>G (p.Tyr452Ter)
NM_138694.4(PKHD1):c.1359C>T (p.Tyr453=)
NM_138694.4(PKHD1):c.1377T>C (p.His459=)
NM_138694.4(PKHD1):c.1380G>A (p.Gly460=)
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.1398G>T (p.Gly466=)
NM_138694.4(PKHD1):c.1403G>A (p.Arg468Lys) rs765645325
NM_138694.4(PKHD1):c.1409del (p.Gly470fs) rs1057516975
NM_138694.4(PKHD1):c.1414C>T (p.Gln472Ter)
NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser)
NM_138694.4(PKHD1):c.1432C>T (p.Leu478=) rs2128212175
NM_138694.4(PKHD1):c.1449C>T (p.Val483=) rs1371241995
NM_138694.4(PKHD1):c.1455T>C (p.Thr485=) rs1582011928
NM_138694.4(PKHD1):c.1459C>T (p.Leu487=)
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro) rs186202437
NM_138694.4(PKHD1):c.1464G>A (p.Arg488=)
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.1473C>T (p.His491=) rs368613297
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.1485C>T (p.Val495=)
NM_138694.4(PKHD1):c.1491C>T (p.Ala497=) rs1808109375
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
NM_138694.4(PKHD1):c.1503A>G (p.Pro501=) rs199736501
NM_138694.4(PKHD1):c.1512+10T>C rs2128211962
NM_138694.4(PKHD1):c.1512+17A>T
NM_138694.4(PKHD1):c.1512+7G>A
NM_138694.4(PKHD1):c.1512+7G>T rs1582011158
NM_138694.4(PKHD1):c.1513-11G>C
NM_138694.4(PKHD1):c.1513-1G>A
NM_138694.4(PKHD1):c.1513-20G>A
NM_138694.4(PKHD1):c.1513-3del rs2128209912
NM_138694.4(PKHD1):c.1513-7T>C
NM_138694.4(PKHD1):c.1524A>G (p.Val508=)
NM_138694.4(PKHD1):c.1527A>G (p.Ser509=) rs1296512733
NM_138694.4(PKHD1):c.1529del (p.Gly510fs) rs1807855713
NM_138694.4(PKHD1):c.1530C>G (p.Gly510=)
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter) rs1582002018
NM_138694.4(PKHD1):c.1555G>A (p.Asp519Asn)
NM_138694.4(PKHD1):c.1560T>C (p.Asn520=) rs1807847661
NM_138694.4(PKHD1):c.156C>T (p.Pro52=)
NM_138694.4(PKHD1):c.156dup (p.Asn53fs) rs773991918
NM_138694.4(PKHD1):c.1572G>A (p.Gln524=)
NM_138694.4(PKHD1):c.1584A>G (p.Ala528=) rs2128209728
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1596C>T (p.Ala532=) rs1234694050
NM_138694.4(PKHD1):c.159C>T (p.Asn53=)
NM_138694.4(PKHD1):c.15G>A (p.Leu5=) rs1812540624
NM_138694.4(PKHD1):c.1600C>A (p.Leu534Met)
NM_138694.4(PKHD1):c.1602+10T>G rs1434345139
NM_138694.4(PKHD1):c.1602+13T>C
NM_138694.4(PKHD1):c.1602+2T>C
NM_138694.4(PKHD1):c.1602+7G>C
NM_138694.4(PKHD1):c.1603-13T>C
NM_138694.4(PKHD1):c.1603-13del
NM_138694.4(PKHD1):c.1603-13dup
NM_138694.4(PKHD1):c.1603-14_1603-13del rs748577508
NM_138694.4(PKHD1):c.1603-16T>G
NM_138694.4(PKHD1):c.1614C>A (p.Thr538=) rs2128209428
NM_138694.4(PKHD1):c.1621G>T (p.Glu541Ter)
NM_138694.4(PKHD1):c.1623G>A (p.Glu541=)
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs) rs1554216499
NM_138694.4(PKHD1):c.1624T>C (p.Leu542=) rs2128209385
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs) rs777295562
NM_138694.4(PKHD1):c.1632A>G (p.Ala544=) rs1582000062
NM_138694.4(PKHD1):c.1638A>G (p.Lys546=)
NM_138694.4(PKHD1):c.1644del (p.Lys548fs)
NM_138694.4(PKHD1):c.1656T>C (p.Leu552=) rs2128209298
NM_138694.4(PKHD1):c.1665C>T (p.Asn555=)
NM_138694.4(PKHD1):c.1693+10G>T rs886061621
NM_138694.4(PKHD1):c.1693+11T>C
NM_138694.4(PKHD1):c.1693+13G>A
NM_138694.4(PKHD1):c.1693+18A>T rs1484052805
NM_138694.4(PKHD1):c.1693+1G>T rs2128209217
NM_138694.4(PKHD1):c.1693+2T>C
NM_138694.4(PKHD1):c.1693+2T>G rs1581999471
NM_138694.4(PKHD1):c.1693+8_1693+15del rs2128209194
NM_138694.4(PKHD1):c.1694-14T>C
NM_138694.4(PKHD1):c.1694-18T>C
NM_138694.4(PKHD1):c.1694-1G>C rs398124477
NM_138694.4(PKHD1):c.1694-6A>C rs1279636771
NM_138694.4(PKHD1):c.1694-8G>T rs2128207729
NM_138694.4(PKHD1):c.1694-9T>C
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter) rs1581992845
NM_138694.4(PKHD1):c.1710C>T (p.Asn570=) rs200592905
NM_138694.4(PKHD1):c.1714G>A (p.Asp572Asn)
NM_138694.4(PKHD1):c.1719G>T (p.Gly573=)
NM_138694.4(PKHD1):c.1728C>T (p.Thr576=) rs1468634187
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
NM_138694.4(PKHD1):c.172T>C (p.Leu58=)
NM_138694.4(PKHD1):c.1743C>T (p.Pro581=) rs1807608055
NM_138694.4(PKHD1):c.1746C>T (p.Phe582=) rs1807607661
NM_138694.4(PKHD1):c.1749T>C (p.Cys583=) rs1010128591
NM_138694.4(PKHD1):c.1755G>A (p.Arg585=)
NM_138694.4(PKHD1):c.1758C>T (p.Phe586=) rs777015620
NM_138694.4(PKHD1):c.1773T>G (p.Pro591=) rs2128207463
NM_138694.4(PKHD1):c.1779C>T (p.His593=)
NM_138694.4(PKHD1):c.1782T>C (p.Leu594=)
NM_138694.4(PKHD1):c.1785C>T (p.Val595=)
NM_138694.4(PKHD1):c.1791T>C (p.Thr597=)
NM_138694.4(PKHD1):c.1794C>T (p.Pro598=) rs756083230
NM_138694.4(PKHD1):c.1797G>A (p.Pro599=)
NM_138694.4(PKHD1):c.1800T>C (p.Ala600=) rs2128207363
NM_138694.4(PKHD1):c.1803C>G (p.Ala601=) rs150333445
NM_138694.4(PKHD1):c.1809G>A (p.Lys603=)
NM_138694.4(PKHD1):c.1816C>A (p.Arg606=) rs560133266
NM_138694.4(PKHD1):c.1817G>A (p.Arg606Gln)
NM_138694.4(PKHD1):c.1818G>A (p.Arg606=)
NM_138694.4(PKHD1):c.1820dup (p.Asp608fs)
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1836+11G>A
NM_138694.4(PKHD1):c.1836+12T>A
NM_138694.4(PKHD1):c.1836+13C>T
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1836+6dup rs2128207241
NM_138694.4(PKHD1):c.1837-10G>C rs749163934
NM_138694.4(PKHD1):c.1837-20G>A
NM_138694.4(PKHD1):c.1837-7T>C rs1581982237
NM_138694.4(PKHD1):c.1837-9T>C rs1581982267
NM_138694.4(PKHD1):c.1842T>C (p.Cys614=)
NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr)
NM_138694.4(PKHD1):c.1848A>G (p.Ala616=) rs776570716
NM_138694.4(PKHD1):c.1849_1850dup (p.Lys618fs)
NM_138694.4(PKHD1):c.1854del (p.Gly619fs) rs1807328785
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1857C>A (p.Gly619=)
NM_138694.4(PKHD1):c.1872C>A (p.Ile624=) rs2128205413
NM_138694.4(PKHD1):c.187_189del (p.Val63del) rs1554228222
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.1884T>A (p.Ile628=)
NM_138694.4(PKHD1):c.1890C>T (p.Ser630=) rs753208668
NM_138694.4(PKHD1):c.1896A>C (p.Thr632=) rs1581981607
NM_138694.4(PKHD1):c.1896A>G (p.Thr632=)
NM_138694.4(PKHD1):c.1899C>T (p.Ile633=) rs751853495
NM_138694.4(PKHD1):c.189G>A (p.Val63=)
NM_138694.4(PKHD1):c.18C>A (p.Ile6=) rs752114253
NM_138694.4(PKHD1):c.1929C>G (p.Thr643=) rs775144938
NM_138694.4(PKHD1):c.1940G>A (p.Ser647Asn) rs1554214687
NM_138694.4(PKHD1):c.1944C>G (p.Leu648=) rs1807310724
NM_138694.4(PKHD1):c.1946C>T (p.Thr649Met)
NM_138694.4(PKHD1):c.1947G>A (p.Thr649=)
NM_138694.4(PKHD1):c.1947_1952del (p.Arg650_Thr651del) rs1554214650
NM_138694.4(PKHD1):c.1953_1964delCAGCCCCGAGAG (p.Ser652_Ser655del)
NM_138694.4(PKHD1):c.1956C>T (p.Ser652=) rs2128205221
NM_138694.4(PKHD1):c.1959C>G (p.Pro653=) rs940015253
NM_138694.4(PKHD1):c.195G>C (p.Val65=)
NM_138694.4(PKHD1):c.1964+10C>T rs1377384085
NM_138694.4(PKHD1):c.1964+11G>A
NM_138694.4(PKHD1):c.1964+12G>A
NM_138694.4(PKHD1):c.1964+12G>C rs572664151
NM_138694.4(PKHD1):c.1964+14G>T
NM_138694.4(PKHD1):c.1964+16G>A
NM_138694.4(PKHD1):c.1964+17G>A
NM_138694.4(PKHD1):c.1964+2T>C
NM_138694.4(PKHD1):c.1964+8A>T
NM_138694.4(PKHD1):c.1964+9_1964+10del rs1581980784
NM_138694.4(PKHD1):c.1965-14A>G
NM_138694.4(PKHD1):c.1965-2A>T rs2128203974
NM_138694.4(PKHD1):c.1965-9G>C rs2128203987
NM_138694.4(PKHD1):c.1967G>A (p.Trp656Ter) rs2128203970
NM_138694.4(PKHD1):c.1968G>T (p.Trp656Cys) rs1209068432
NM_138694.4(PKHD1):c.1975G>A (p.Asp659Asn)
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg) rs727504092
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) rs1554214097
NM_138694.4(PKHD1):c.1982C>T (p.Thr661Ile) rs1012552954
NM_138694.4(PKHD1):c.1983T>A (p.Thr661=)
NM_138694.4(PKHD1):c.1983T>C (p.Thr661=) rs894149194
NM_138694.4(PKHD1):c.1986C>T (p.Asp662=)
NM_138694.4(PKHD1):c.1989C>T (p.Leu663=) rs1393937673
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter) rs2128203862
NM_138694.4(PKHD1):c.1995G>A (p.Glu665=) rs2128203853
NM_138694.4(PKHD1):c.2001T>C (p.Cys667=) rs1807156390
NM_138694.4(PKHD1):c.2005C>G (p.Arg669Gly) rs375547868
NM_138694.4(PKHD1):c.2005C>T (p.Arg669Cys)
NM_138694.4(PKHD1):c.2007T>A (p.Arg669=) rs2128203808
NM_138694.4(PKHD1):c.2016G>T (p.Gly672=)
NM_138694.4(PKHD1):c.2017del (p.Asp673fs) rs1581974348
NM_138694.4(PKHD1):c.2019T>C (p.Asp673=)
NM_138694.4(PKHD1):c.2022C>T (p.Leu674=)
NM_138694.4(PKHD1):c.2046A>G (p.Pro682=) rs4715271
NM_138694.4(PKHD1):c.204G>A (p.Val68=) rs770342912
NM_138694.4(PKHD1):c.2059C>T (p.Gln687Ter) rs2128203606
NM_138694.4(PKHD1):c.2061G>A (p.Gln687=) rs2128203600
NM_138694.4(PKHD1):c.206T>C (p.Val69Ala)
NM_138694.4(PKHD1):c.2082C>G (p.Ala694=)
NM_138694.4(PKHD1):c.2085G>A (p.Gln695=)
NM_138694.4(PKHD1):c.2085_2086insA (p.Glu696fs) rs2128203474
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) rs781485593
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser) rs781485593
NM_138694.4(PKHD1):c.2091G>C (p.Thr697=)
NM_138694.4(PKHD1):c.2094C>G (p.Gly698=)
NM_138694.4(PKHD1):c.2095C>T (p.Leu699=) rs554137531
NM_138694.4(PKHD1):c.2097G>A (p.Leu699=) rs1468446097
NM_138694.4(PKHD1):c.2097G>T (p.Leu699=) rs1468446097
NM_138694.4(PKHD1):c.2106G>C (p.Val702=)
NM_138694.4(PKHD1):c.2107G>A (p.Asp703Asn) rs2128203385
NM_138694.4(PKHD1):c.210C>A (p.Pro70=) rs372103359
NM_138694.4(PKHD1):c.210dup (p.Ala71fs)
NM_138694.4(PKHD1):c.2120T>C (p.Ile707Thr)
NM_138694.4(PKHD1):c.2120T>G (p.Ile707Ser) rs2128203303
NM_138694.4(PKHD1):c.2121T>C (p.Ile707=)
NM_138694.4(PKHD1):c.2135dup (p.Thr713fs)
NM_138694.4(PKHD1):c.213A>C (p.Ala71=) rs779924275
NM_138694.4(PKHD1):c.213A>G (p.Ala71=) rs779924275
NM_138694.4(PKHD1):c.2140+10A>G rs764919618
NM_138694.4(PKHD1):c.2140+11A>C
NM_138694.4(PKHD1):c.2140+11A>G
NM_138694.4(PKHD1):c.2140+12A>G
NM_138694.4(PKHD1):c.2140+14TC[3]
NM_138694.4(PKHD1):c.2140+17C>G
NM_138694.4(PKHD1):c.2140+17C>T
NM_138694.4(PKHD1):c.2140+19C>G
NM_138694.4(PKHD1):c.2140+1G>A rs1554213853
NM_138694.4(PKHD1):c.2140+1G>C rs1554213853
NM_138694.4(PKHD1):c.2140+1G>T rs1554213853
NM_138694.4(PKHD1):c.2140+7A>G
NM_138694.4(PKHD1):c.2140+9C>A
NM_138694.4(PKHD1):c.2141-10T>C rs2128197098
NM_138694.4(PKHD1):c.2141-1G>A rs2128197058
NM_138694.4(PKHD1):c.2141-2A>C rs1554212403
NM_138694.4(PKHD1):c.2146C>T (p.Gln716Ter)
NM_138694.4(PKHD1):c.2151T>C (p.Ala717=)
NM_138694.4(PKHD1):c.2165C>T (p.Ala722Val)
NM_138694.4(PKHD1):c.2168G>A (p.Arg723His) rs150597050
NM_138694.4(PKHD1):c.2169C>T (p.Arg723=) rs2128196956
NM_138694.4(PKHD1):c.216G>A (p.Leu72=) rs2128243397
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser) rs1806602099
NM_138694.4(PKHD1):c.2172A>C (p.Pro724=)
NM_138694.4(PKHD1):c.2172_2174del (p.Gly726del) rs763682158
NM_138694.4(PKHD1):c.2172del (p.Gly726fs) rs1806601043
NM_138694.4(PKHD1):c.2175G>A (p.Gly725=)
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs) rs1581956689
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs) rs2128196889
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) rs1057516608
NM_138694.4(PKHD1):c.2193A>G (p.Ser731=) rs2128196747
NM_138694.4(PKHD1):c.2196C>G (p.Val732=) rs2128196728
NM_138694.4(PKHD1):c.2200G>T (p.Val734Leu) rs1806591259
NM_138694.4(PKHD1):c.2201_2202del (p.Val734fs) rs1806590811
NM_138694.4(PKHD1):c.2208A>G (p.Gly736=) rs1581956327
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.2229C>T (p.Val743=) rs972076176
NM_138694.4(PKHD1):c.222T>C (p.Ser74=)
NM_138694.4(PKHD1):c.2235C>G (p.Ser745=)
NM_138694.4(PKHD1):c.2244G>T (p.Ala748=)
NM_138694.4(PKHD1):c.2247G>T (p.Gly749=)
NM_138694.4(PKHD1):c.2253C>A (p.Gly751=)
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter) rs1806573538
NM_138694.4(PKHD1):c.2259G>A (p.Glu753=) rs773611227
NM_138694.4(PKHD1):c.2262C>G (p.Leu754=) rs200754084
NM_138694.4(PKHD1):c.2262C>T (p.Leu754=) rs200754084
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2268C>T (p.Leu756=)
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.2274T>C (p.Thr758=) rs768985261
NM_138694.4(PKHD1):c.2279+18T>C
NM_138694.4(PKHD1):c.2279+9T>G
NM_138694.4(PKHD1):c.2280-11A>G
NM_138694.4(PKHD1):c.2280-1G>A
NM_138694.4(PKHD1):c.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.2280-3C>T
NM_138694.4(PKHD1):c.2280-9G>T rs376576760
NM_138694.4(PKHD1):c.2289C>T (p.Pro763=) rs2128193127
NM_138694.4(PKHD1):c.228C>T (p.Pro76=) rs2128243354
NM_138694.4(PKHD1):c.2306A>G (p.Glu769Gly)
NM_138694.4(PKHD1):c.2307G>A (p.Glu769=) rs2128193042
NM_138694.4(PKHD1):c.2310A>C (p.Gly770=)
NM_138694.4(PKHD1):c.2316A>T (p.Gly772=)
NM_138694.4(PKHD1):c.2331G>A (p.Thr777=)
NM_138694.4(PKHD1):c.2339_2340del (p.Arg780fs) rs2128192920
NM_138694.4(PKHD1):c.2341C>G (p.Arg781Gly)
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs) rs1554211308
NM_138694.4(PKHD1):c.2357C>T (p.Pro786Leu) rs1806234590
NM_138694.4(PKHD1):c.2362C>T (p.Leu788=) rs2128192820
NM_138694.4(PKHD1):c.2371C>G (p.His791Asp) rs781097626
NM_138694.4(PKHD1):c.2379C>T (p.Arg793=) rs2128192726
NM_138694.4(PKHD1):c.2396C>G (p.Thr799Arg) rs1465053705
NM_138694.4(PKHD1):c.2397A>G (p.Thr799=)
NM_138694.4(PKHD1):c.2407+11G>T
NM_138694.4(PKHD1):c.2407+17G>A
NM_138694.4(PKHD1):c.2407+17G>T
NM_138694.4(PKHD1):c.2407+7G>A rs759614775
NM_138694.4(PKHD1):c.2407+9G>A
NM_138694.4(PKHD1):c.2408-12C>A
NM_138694.4(PKHD1):c.2408-18C>A
NM_138694.4(PKHD1):c.2408-19T>A
NM_138694.4(PKHD1):c.2408-20A>G
NM_138694.4(PKHD1):c.2408-2A>G rs1554210085
NM_138694.4(PKHD1):c.2408-5C>T
NM_138694.4(PKHD1):c.2408-9C>T
NM_138694.4(PKHD1):c.2409T>C (p.Asp803=) rs562366195
NM_138694.4(PKHD1):c.2412C>A (p.Val804=)
NM_138694.4(PKHD1):c.2436C>T (p.His812=)
NM_138694.4(PKHD1):c.2442C>T (p.His814=)
NM_138694.4(PKHD1):c.2445G>T (p.Gln815His) rs775446499
NM_138694.4(PKHD1):c.2448C>A (p.Leu816=)
NM_138694.4(PKHD1):c.2451A>G (p.Leu817=)
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2457T>C (p.Asn819=) rs1805781325
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2475A>G (p.Thr825=) rs2128188451
NM_138694.4(PKHD1):c.2481G>A (p.Arg827=) rs1805773357
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys) rs781698219
NM_138694.4(PKHD1):c.2502C>T (p.Phe834=) rs1756254637
NM_138694.4(PKHD1):c.2507_2515del (p.Val836_Glu838del) rs1554209944
NM_138694.4(PKHD1):c.2514G>A (p.Glu838=)
NM_138694.4(PKHD1):c.2516A>G (p.Asp839Gly)
NM_138694.4(PKHD1):c.2523C>T (p.Tyr841=) rs1398402696
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro) rs1203260419
NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg)
NM_138694.4(PKHD1):c.2553C>T (p.Ser851=)
NM_138694.4(PKHD1):c.2555G>A (p.Trp852Ter)
NM_138694.4(PKHD1):c.2563C>T (p.Gln855Ter) rs1805754682
NM_138694.4(PKHD1):c.2568T>C (p.Ile856=) rs772613823
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg) rs1562220663
NM_138694.4(PKHD1):c.2571G>A (p.Gly857=)
NM_138694.4(PKHD1):c.2583T>C (p.Asn861=) rs2128188184
NM_138694.4(PKHD1):c.2590del (p.Arg864fs) rs1057516709
NM_138694.4(PKHD1):c.2592+16C>T
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.2592+1G>T
NM_138694.4(PKHD1):c.2592+7A>G rs1236604605
NM_138694.4(PKHD1):c.2592+9A>G rs2128188127
NM_138694.4(PKHD1):c.2593-19A>G
NM_138694.4(PKHD1):c.2593-3C>T rs1290670072
NM_138694.4(PKHD1):c.2593-4T>C rs2128186665
NM_138694.4(PKHD1):c.2593-6T>C rs2128186670
NM_138694.4(PKHD1):c.2593-7A>G
NM_138694.4(PKHD1):c.2595C>A (p.Val865=)
NM_138694.4(PKHD1):c.2597C>G (p.Ser866Cys) rs776017473
NM_138694.4(PKHD1):c.2601T>C (p.Asp867=) rs1805571207
NM_138694.4(PKHD1):c.2601del (p.Asp867fs)
NM_138694.4(PKHD1):c.2606del (p.Asn869fs)
NM_138694.4(PKHD1):c.2612C>G (p.Thr871Ser)
NM_138694.4(PKHD1):c.2619G>A (p.Val873=)
NM_138694.4(PKHD1):c.2626G>C (p.Ala876Pro) rs1581922432
NM_138694.4(PKHD1):c.2627C>T (p.Ala876Val)
NM_138694.4(PKHD1):c.2628T>C (p.Ala876=) rs2128186591
NM_138694.4(PKHD1):c.2636C>T (p.Thr879Met)
NM_138694.4(PKHD1):c.2637G>T (p.Thr879=)
NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro)
NM_138694.4(PKHD1):c.2640T>G (p.Arg880=)
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala) rs373974753
NM_138694.4(PKHD1):c.2654G>A (p.Gly885Asp) rs1307445542
NM_138694.4(PKHD1):c.2664_2665insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGGGAGAGGGAGAGGGAGCATGATGGTGGAGTTTTT (p.Leu889fs)
NM_138694.4(PKHD1):c.2670A>G (p.Gly890=) rs751304560
NM_138694.4(PKHD1):c.2679T>C (p.Phe893=) rs1282895436
NM_138694.4(PKHD1):c.2688_2696delinsA (p.Met896fs) rs1805550477
NM_138694.4(PKHD1):c.2694T>C (p.Ala898=)
NM_138694.4(PKHD1):c.2709T>C (p.His903=) rs2128186296
NM_138694.4(PKHD1):c.270A>G (p.Thr90=) rs886044598
NM_138694.4(PKHD1):c.2713C>T (p.Gln905Ter) rs1805547113
NM_138694.4(PKHD1):c.2715+14G>A
NM_138694.4(PKHD1):c.2715+15G>A
NM_138694.4(PKHD1):c.2715+15G>C
NM_138694.4(PKHD1):c.2715+1G>C rs1554209188
NM_138694.4(PKHD1):c.2715+1G>T
NM_138694.4(PKHD1):c.2715+2_2715+14del rs1057516562
NM_138694.4(PKHD1):c.2715+8T>A rs2128186261
NM_138694.4(PKHD1):c.2715+9G>T
NM_138694.4(PKHD1):c.2716-11C>A
NM_138694.4(PKHD1):c.2716-12G>A
NM_138694.4(PKHD1):c.2716-8C>A
NM_138694.4(PKHD1):c.2722G>T (p.Val908Leu) rs2128184282
NM_138694.4(PKHD1):c.2724G>A (p.Val908=) rs2128184270
NM_138694.4(PKHD1):c.2725C>A (p.Arg909=) rs727504089
NM_138694.4(PKHD1):c.2729_2731delinsCTC (p.Val910_Asn911delinsAlaHis) rs2128184229
NM_138694.4(PKHD1):c.2730G>A (p.Val910=) rs2128184239
NM_138694.4(PKHD1):c.2733_2734insTGCCCAGGTTCAGGT (p.Asn911_Asp912insCysProGlySerGly) rs2128184195
NM_138694.4(PKHD1):c.2733del (p.Asn911fs) rs2128184202
NM_138694.4(PKHD1):c.2740C>T (p.Pro914Ser)
NM_138694.4(PKHD1):c.2745T>C (p.Ala915=)
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro) rs1805300035
NM_138694.4(PKHD1):c.274C>A (p.Arg92=)
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2763C>T (p.Cys921=) rs2128184120
NM_138694.4(PKHD1):c.2766T>A (p.Ser922=)
NM_138694.4(PKHD1):c.276G>A (p.Arg92=) rs1812170618
NM_138694.4(PKHD1):c.2775C>T (p.Tyr925=) rs2128184094
NM_138694.4(PKHD1):c.2778C>G (p.Leu926=)
NM_138694.4(PKHD1):c.2778C>T (p.Leu926=)
NM_138694.4(PKHD1):c.2784G>T (p.Gly928=)
NM_138694.4(PKHD1):c.2796T>A (p.Cys932Ter)
NM_138694.4(PKHD1):c.2799C>T (p.Val933=)
NM_138694.4(PKHD1):c.279C>G (p.Thr93=) rs1052073195
NM_138694.4(PKHD1):c.281+13G>A rs1812167147
NM_138694.4(PKHD1):c.281+17A>G
NM_138694.4(PKHD1):c.281+19A>G
NM_138694.4(PKHD1):c.281+1G>T
NM_138694.4(PKHD1):c.281+2dup rs1554228127
NM_138694.4(PKHD1):c.281+7C>A
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.2814C>T (p.Tyr938=) rs758383397
NM_138694.4(PKHD1):c.282-16C>T
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.282-9T>G
NM_138694.4(PKHD1):c.2821+14C>G
NM_138694.4(PKHD1):c.2821+9T>C rs1581914451
NM_138694.4(PKHD1):c.2822-18T>C
NM_138694.4(PKHD1):c.2822-1G>C rs1554208257
NM_138694.4(PKHD1):c.2822-8C>T rs887807149
NM_138694.4(PKHD1):c.2829C>T (p.Asp943=) rs2128183054
NM_138694.4(PKHD1):c.2834A>T (p.Asn945Ile)
NM_138694.4(PKHD1):c.2835C>T (p.Asn945=)
NM_138694.4(PKHD1):c.2844T>A (p.Ile948=)
NM_138694.4(PKHD1):c.2846del (p.Tyr949fs) rs2128182991
NM_138694.4(PKHD1):c.2847C>T (p.Tyr949=) rs2128182988
NM_138694.4(PKHD1):c.2850T>C (p.Ile950=) rs2128182974
NM_138694.4(PKHD1):c.2853C>A (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.2853C>G (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter) rs773136605
NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu)
NM_138694.4(PKHD1):c.285T>G (p.Ser95=) rs2128240513
NM_138694.4(PKHD1):c.2862T>C (p.Gly954=) rs1215569251
NM_138694.4(PKHD1):c.2886G>A (p.Leu962=)
NM_138694.4(PKHD1):c.2895A>G (p.Thr965=) rs2128182860
NM_138694.4(PKHD1):c.2907G>A (p.Thr969=) rs1805178784
NM_138694.4(PKHD1):c.2922T>C (p.Ile974=)
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro) rs770882723
NM_138694.4(PKHD1):c.2932del (p.Gln978fs) rs2128182780
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.2940T>C (p.Asn980=) rs2128182745
NM_138694.4(PKHD1):c.2946C>G (p.Val982=) rs2128182722
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter) rs1581910796
NM_138694.4(PKHD1):c.2957A>T (p.Asp986Val) rs957113162
NM_138694.4(PKHD1):c.2967T>C (p.Pro989=)
NM_138694.4(PKHD1):c.2967T>G (p.Pro989=)
NM_138694.4(PKHD1):c.2985C>A (p.Ile995=) rs2128182609
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys) rs2128182593
NM_138694.4(PKHD1):c.2T>C (p.Met1Thr) rs2128246846
NM_138694.4(PKHD1):c.3009T>A (p.Gly1003=)
NM_138694.4(PKHD1):c.3009T>C (p.Gly1003=) rs886042383
NM_138694.4(PKHD1):c.300A>G (p.Ala100=) rs1266693517
NM_138694.4(PKHD1):c.3016A>G (p.Ile1006Val)
NM_138694.4(PKHD1):c.3018C>T (p.Ile1006=) rs2128182475
NM_138694.4(PKHD1):c.3021T>C (p.Ser1007=)
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=) rs559684657
NM_138694.4(PKHD1):c.3036C>T (p.Asp1012=)
NM_138694.4(PKHD1):c.3039C>G (p.Leu1013=)
NM_138694.4(PKHD1):c.3039C>T (p.Leu1013=)
NM_138694.4(PKHD1):c.3043C>T (p.Leu1015=) rs1272367929
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=) rs1581909859
NM_138694.4(PKHD1):c.3081C>T (p.Ser1027=)
NM_138694.4(PKHD1):c.3084A>G (p.Arg1028=) rs754425809
NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu)
NM_138694.4(PKHD1):c.3097+10G>A rs1805137705
NM_138694.4(PKHD1):c.3097+12A>C
NM_138694.4(PKHD1):c.3097+19C>T
NM_138694.4(PKHD1):c.3097+2T>C rs1554207834
NM_138694.4(PKHD1):c.3098-17T>A
NM_138694.4(PKHD1):c.3098-18A>G
NM_138694.4(PKHD1):c.3098-1G>A rs2128169165
NM_138694.4(PKHD1):c.3098-2A>T
NM_138694.4(PKHD1):c.3098-4A>T
NM_138694.4(PKHD1):c.3098-7G>C rs2128169185
NM_138694.4(PKHD1):c.3098-8T>C
NM_138694.4(PKHD1):c.3099A>G (p.Gly1033=)
NM_138694.4(PKHD1):c.30T>C (p.Ser10=)
NM_138694.4(PKHD1):c.3102G>A (p.Gly1034=) rs1247363369
NM_138694.4(PKHD1):c.3110CCA[1] (p.Thr1038del) rs1554204118
NM_138694.4(PKHD1):c.3111C>T (p.Ala1037=) rs2128169120
NM_138694.4(PKHD1):c.3118C>G (p.Arg1040Gly) rs755183117
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.3118del (p.Arg1040fs) rs1803834984
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.312G>A (p.Leu104=) rs2128240465
NM_138694.4(PKHD1):c.312_313del (p.Tyr105fs)
NM_138694.4(PKHD1):c.3145C>T (p.Leu1049=) rs1581870137
NM_138694.4(PKHD1):c.3147G>A (p.Leu1049=)
NM_138694.4(PKHD1):c.3153A>G (p.Leu1051=)
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs) rs1554204054
NM_138694.4(PKHD1):c.3159A>G (p.Gly1053=) rs760378961
NM_138694.4(PKHD1):c.3159A>T (p.Gly1053=)
NM_138694.4(PKHD1):c.315C>T (p.Tyr105=) rs2128240462
NM_138694.4(PKHD1):c.3165C>T (p.Tyr1055=)
NM_138694.4(PKHD1):c.3167C>T (p.Ser1056Leu)
NM_138694.4(PKHD1):c.3178A>T (p.Asn1060Tyr)
NM_138694.4(PKHD1):c.3180T>C (p.Asn1060=)
NM_138694.4(PKHD1):c.3195T>C (p.Asn1065=) rs1439238243
NM_138694.4(PKHD1):c.3198A>C (p.Ser1066=) rs2128168777
NM_138694.4(PKHD1):c.3198A>G (p.Ser1066=) rs2128168777
NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)
NM_138694.4(PKHD1):c.3204A>G (p.Arg1068=)
NM_138694.4(PKHD1):c.3223C>G (p.Pro1075Ala) rs1229292183
NM_138694.4(PKHD1):c.3225C>G (p.Pro1075=)
NM_138694.4(PKHD1):c.3225del (p.Arg1076fs)
NM_138694.4(PKHD1):c.3228+13C>T
NM_138694.4(PKHD1):c.3228+18A>G
NM_138694.4(PKHD1):c.3228+1G>C rs868673401
NM_138694.4(PKHD1):c.3228+1G>T rs868673401
NM_138694.4(PKHD1):c.3228+20A>G
NM_138694.4(PKHD1):c.3228+7G>A
NM_138694.4(PKHD1):c.3228+8G>A
NM_138694.4(PKHD1):c.3228+9A>C rs374110822
NM_138694.4(PKHD1):c.3228+9A>G
NM_138694.4(PKHD1):c.3229-1G>A
NM_138694.4(PKHD1):c.3229-20T>C
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3231G>A (p.Gly1077=)
NM_138694.4(PKHD1):c.3255G>A (p.Val1085=)
NM_138694.4(PKHD1):c.3258T>C (p.Thr1086=) rs1330369427
NM_138694.4(PKHD1):c.3269_3280del (p.Gly1090_Ser1093del) rs1554202991
NM_138694.4(PKHD1):c.3270G>C (p.Gly1090=) rs1225705824
NM_138694.4(PKHD1):c.3271dup (p.Asp1091fs) rs1803325484
NM_138694.4(PKHD1):c.3282A>C (p.Ala1094=) rs2128163509
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro) rs1803322601
NM_138694.4(PKHD1):c.3289C>T (p.Pro1097Ser)
NM_138694.4(PKHD1):c.3297A>G (p.Ala1099=)
NM_138694.4(PKHD1):c.3300del (p.Phe1100fs)
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.3303A>T (p.Thr1101=)
NM_138694.4(PKHD1):c.3309C>G (p.Val1103=) rs2128163422
NM_138694.4(PKHD1):c.330C>G (p.Tyr110Ter)
NM_138694.4(PKHD1):c.330C>T (p.Tyr110=) rs2128240446
NM_138694.4(PKHD1):c.3311C>T (p.Ser1104Phe) rs769085607
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3315C>T (p.Ser1105=)
NM_138694.4(PKHD1):c.3339G>A (p.Leu1113=) rs1803312068
NM_138694.4(PKHD1):c.3342C>T (p.Ser1114=) rs2128163307
NM_138694.4(PKHD1):c.3350_3351del (p.Ile1117fs)
NM_138694.4(PKHD1):c.3357T>C (p.Asn1119=) rs2128163246
NM_138694.4(PKHD1):c.3364+19C>T
NM_138694.4(PKHD1):c.3364G>A (p.Gly1122Ser) rs1803308145
NM_138694.4(PKHD1):c.3365-16A>T
NM_138694.4(PKHD1):c.3365-19T>C
NM_138694.4(PKHD1):c.3365-3C>T rs2128153381
NM_138694.4(PKHD1):c.3365-5C>T
NM_138694.4(PKHD1):c.3372G>A (p.Glu1124=) rs569065606
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala) rs144365187
NM_138694.4(PKHD1):c.3375C>T (p.Thr1125=) rs2128153291
NM_138694.4(PKHD1):c.337G>T (p.Gly113Ter) rs2128240429
NM_138694.4(PKHD1):c.3381C>T (p.Val1127=) rs770039465
NM_138694.4(PKHD1):c.3384T>C (p.Ile1128=)
NM_138694.4(PKHD1):c.338del (p.Gly113fs)
NM_138694.4(PKHD1):c.3390G>A (p.Val1130=)
NM_138694.4(PKHD1):c.3396G>A (p.Arg1132=)
NM_138694.4(PKHD1):c.3397C>T (p.Leu1133=)
NM_138694.4(PKHD1):c.3405C>T (p.Asn1135=)
NM_138694.4(PKHD1):c.3406T>A (p.Tyr1136Asn)
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.3410C>T (p.Thr1137Met)
NM_138694.4(PKHD1):c.3412G>A (p.Asp1138Asn) rs1192156901
NM_138694.4(PKHD1):c.3415T>C (p.Leu1139=)
NM_138694.4(PKHD1):c.3432C>T (p.His1144=) rs376881116
NM_138694.4(PKHD1):c.3435C>T (p.Val1145=)
NM_138694.4(PKHD1):c.3438G>A (p.Gln1146=) rs999791859
NM_138694.4(PKHD1):c.3459C>T (p.His1153=) rs992727933
NM_138694.4(PKHD1):c.3462A>C (p.Thr1154=)
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs) rs1554200778
NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter) rs1802523270
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3477C>A (p.Gly1159=) rs1581827926
NM_138694.4(PKHD1):c.3477C>T (p.Gly1159=) rs1581827926
NM_138694.4(PKHD1):c.3479dup (p.Glu1161fs)
NM_138694.4(PKHD1):c.3481G>C (p.Glu1161Gln) rs878855202
NM_138694.4(PKHD1):c.3495C>T (p.Pro1165=)
NM_138694.4(PKHD1):c.3499C>T (p.Leu1167=) rs2128152730
NM_138694.4(PKHD1):c.3501G>T (p.Leu1167=)
NM_138694.4(PKHD1):c.3504A>C (p.Pro1168=) rs2128152692
NM_138694.4(PKHD1):c.3513C>T (p.Leu1171=) rs2128152639
NM_138694.4(PKHD1):c.3522T>A (p.Ile1174=) rs2128152605
NM_138694.4(PKHD1):c.3528C>T (p.Val1176=) rs1562176342
NM_138694.4(PKHD1):c.3545G>C (p.Ser1182Thr)
NM_138694.4(PKHD1):c.3549del (p.His1184fs) rs1802504786
NM_138694.4(PKHD1):c.3555A>C (p.Ser1185=)
NM_138694.4(PKHD1):c.3558A>G (p.Gln1186=)
NM_138694.4(PKHD1):c.3560+10C>A
NM_138694.4(PKHD1):c.3560+11C>A
NM_138694.4(PKHD1):c.3560+12A>G
NM_138694.4(PKHD1):c.3560+17C>G
NM_138694.4(PKHD1):c.3561-10T>C rs770804376
NM_138694.4(PKHD1):c.3561-15G>A
NM_138694.4(PKHD1):c.3561-19A>C
NM_138694.4(PKHD1):c.3561-19A>G
NM_138694.4(PKHD1):c.3561-1G>A rs1802457333
NM_138694.4(PKHD1):c.3561-2A>G rs1057516982
NM_138694.4(PKHD1):c.3564T>C (p.Val1188=) rs2128151686
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
NM_138694.4(PKHD1):c.3579G>A (p.Gln1193=) rs2128151649
NM_138694.4(PKHD1):c.3588A>T (p.Thr1196=) rs1244130284
NM_138694.4(PKHD1):c.3589dup (p.Glu1197fs) rs2128151635
NM_138694.4(PKHD1):c.3591A>G (p.Glu1197=) rs1217153511
NM_138694.4(PKHD1):c.3594T>C (p.Val1198=) rs2128151618
NM_138694.4(PKHD1):c.3618G>T (p.Gly1206=) rs948061604
NM_138694.4(PKHD1):c.3621C>G (p.Ser1207=) rs1581824974
NM_138694.4(PKHD1):c.3621C>T (p.Ser1207=) rs1581824974
NM_138694.4(PKHD1):c.3625C>T (p.Leu1209=)
NM_138694.4(PKHD1):c.3628+15T>C
NM_138694.4(PKHD1):c.3628+18G>T
NM_138694.4(PKHD1):c.3628+19A>G
NM_138694.4(PKHD1):c.3628+8G>A rs2128151436
NM_138694.4(PKHD1):c.3628+8G>C
NM_138694.4(PKHD1):c.3628+9C>T rs552339299
NM_138694.4(PKHD1):c.3628G>T (p.Gly1210Ter)
NM_138694.4(PKHD1):c.3629-4T>C
NM_138694.4(PKHD1):c.3629-4T>G
NM_138694.4(PKHD1):c.3629-6C>T rs1581815331
NM_138694.4(PKHD1):c.3629-7A>G
NM_138694.4(PKHD1):c.3631G>A (p.Gly1211Arg)
NM_138694.4(PKHD1):c.3636C>T (p.Thr1212=) rs2128147296
NM_138694.4(PKHD1):c.3637A>T (p.Ile1213Phe)
NM_138694.4(PKHD1):c.3639C>A (p.Ile1213=) rs2128147277
NM_138694.4(PKHD1):c.3642C>T (p.Leu1214=)
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=) rs1581815094
NM_138694.4(PKHD1):c.3651A>G (p.Ser1217=) rs2128147214
NM_138694.4(PKHD1):c.3672C>T (p.Asp1224=)
NM_138694.4(PKHD1):c.3681G>A (p.Leu1227=)
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3695T>G (p.Val1232Gly)
NM_138694.4(PKHD1):c.3696G>A (p.Val1232=)
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser) rs1802145665
NM_138694.4(PKHD1):c.3702T>C (p.Asn1234=)
NM_138694.4(PKHD1):c.370C>A (p.Arg124=) rs727504096
NM_138694.4(PKHD1):c.3717T>C (p.Ile1239=)
NM_138694.4(PKHD1):c.3723C>T (p.Asn1241=)
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu) rs140815495
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val) rs140815495
NM_138694.4(PKHD1):c.3738C>T (p.Ser1246=)
NM_138694.4(PKHD1):c.3744G>A (p.Trp1248Ter)
NM_138694.4(PKHD1):c.3753C>G (p.Thr1251=)
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs) rs2128146668
NM_138694.4(PKHD1):c.3756G>A (p.Leu1252=) rs9689306
NM_138694.4(PKHD1):c.3756G>T (p.Leu1252=) rs9689306
NM_138694.4(PKHD1):c.3759A>C (p.Pro1253=) rs2128146627
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3762C>A (p.Ala1254=) rs758337939
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs) rs1802132538
NM_138694.4(PKHD1):c.3765C>A (p.Pro1255=) rs1581814029
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs)
NM_138694.4(PKHD1):c.3774C>G (p.Pro1258=)
NM_138694.4(PKHD1):c.3777T>C (p.Asp1259=) rs2128146464
NM_138694.4(PKHD1):c.3783C>A (p.Gly1261=)
NM_138694.4(PKHD1):c.3786T>G (p.Ala1262=) rs2128146375
NM_138694.4(PKHD1):c.378C>T (p.Ser126=) rs2128240334
NM_138694.4(PKHD1):c.3791C>G (p.Thr1264Ser)
NM_138694.4(PKHD1):c.3798A>G (p.Pro1266=)
NM_138694.4(PKHD1):c.3804C>A (p.Ala1268=)
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs) rs1554199349
NM_138694.4(PKHD1):c.3815G>A (p.Trp1272Ter)
NM_138694.4(PKHD1):c.3822C>A (p.Gly1274=) rs758374049
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=) rs1373102999
NM_138694.4(PKHD1):c.3831C>T (p.Phe1277=) rs750542025
NM_138694.4(PKHD1):c.3837_3838del (p.Arg1280fs)
NM_138694.4(PKHD1):c.3840T>C (p.Arg1280=)
NM_138694.4(PKHD1):c.3848C>A (p.Ser1283Ter)
NM_138694.4(PKHD1):c.3849A>G (p.Ser1283=)
NM_138694.4(PKHD1):c.3858G>A (p.Leu1286=)
NM_138694.4(PKHD1):c.3861G>A (p.Val1287=)
NM_138694.4(PKHD1):c.3870C>T (p.Gly1290=)
NM_138694.4(PKHD1):c.3894A>G (p.Ala1298=)
NM_138694.4(PKHD1):c.390+16G>A
NM_138694.4(PKHD1):c.390+17G>A
NM_138694.4(PKHD1):c.390+1G>A rs752327566
NM_138694.4(PKHD1):c.390+1del rs1554227162
NM_138694.4(PKHD1):c.3907del (p.Val1303fs) rs1581812192
NM_138694.4(PKHD1):c.3909C>T (p.Val1303=) rs1385827930
NM_138694.4(PKHD1):c.391-10T>G
NM_138694.4(PKHD1):c.391-12T>C
NM_138694.4(PKHD1):c.391-13A>G
NM_138694.4(PKHD1):c.391-16A>G
NM_138694.4(PKHD1):c.391-18G>T
NM_138694.4(PKHD1):c.391-6A>G rs2128236844
NM_138694.4(PKHD1):c.391-8C>G
NM_138694.4(PKHD1):c.3912T>G (p.Thr1304=)
NM_138694.4(PKHD1):c.3915C>T (p.Ala1305=) rs1338082486
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
NM_138694.4(PKHD1):c.3921del (p.Gly1308fs)
NM_138694.4(PKHD1):c.3933A>G (p.Thr1311=) rs2128145709
NM_138694.4(PKHD1):c.3936T>C (p.Asn1312=) rs757243486
NM_138694.4(PKHD1):c.3939C>T (p.Ser1313=) rs2128145683
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer) rs1554199226
NM_138694.4(PKHD1):c.3948C>T (p.Ser1316=) rs1802082808
NM_138694.4(PKHD1):c.3951G>A (p.Leu1317=) rs2128145613
NM_138694.4(PKHD1):c.3957G>A (p.Val1319=)
NM_138694.4(PKHD1):c.3958G>T (p.Gly1320Ter)
NM_138694.4(PKHD1):c.3981A>C (p.Ser1327=)
NM_138694.4(PKHD1):c.3996G>A (p.Gly1332=)
NM_138694.4(PKHD1):c.4000C>T (p.Leu1334=)
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4026del (p.Phe1343fs) rs2128145291
NM_138694.4(PKHD1):c.402G>A (p.Ala134=) rs200992930
NM_138694.4(PKHD1):c.402G>T (p.Ala134=) rs200992930
NM_138694.4(PKHD1):c.4034del (p.Gly1345fs) rs2128145261
NM_138694.4(PKHD1):c.4044C>T (p.Ser1348=)
NM_138694.4(PKHD1):c.4045C>T (p.Leu1349=) rs781101623
NM_138694.4(PKHD1):c.4047G>A (p.Leu1349=) rs754565280
NM_138694.4(PKHD1):c.4047G>T (p.Leu1349=) rs754565280
NM_138694.4(PKHD1):c.4056C>T (p.Cys1352=)
NM_138694.4(PKHD1):c.4059C>T (p.Ser1353=)
NM_138694.4(PKHD1):c.405G>A (p.Gln135=)
NM_138694.4(PKHD1):c.4062C>T (p.Ile1354=)
NM_138694.4(PKHD1):c.4077G>A (p.Leu1359=)
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
NM_138694.4(PKHD1):c.40C>G (p.Leu14Val)
NM_138694.4(PKHD1):c.4104A>C (p.Val1368=)
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs) rs1581810497
NM_138694.4(PKHD1):c.4113G>A (p.Lys1371=) rs1029566251
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.411_414dup (p.Val139fs) rs2128236822
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs) rs1057516594
NM_138694.4(PKHD1):c.4133T>C (p.Met1378Thr) rs1178166648
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4142T>G (p.Val1381Gly)
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter) rs1226122841
NM_138694.4(PKHD1):c.4158A>C (p.Ala1386=) rs1581809900
NM_138694.4(PKHD1):c.415G>A (p.Val139Ile)
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=) rs1802043497
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr) rs2128144732
NM_138694.4(PKHD1):c.4167T>C (p.Pro1389=)
NM_138694.4(PKHD1):c.4168C>A (p.Arg1390=) rs768458758
NM_138694.4(PKHD1):c.4168C>G (p.Arg1390Gly)
NM_138694.4(PKHD1):c.4179C>A (p.Ala1393=)
NM_138694.4(PKHD1):c.4183_4184dup (p.Pro1396fs)
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4188A>T (p.Pro1396=)
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=) rs756553815
NM_138694.4(PKHD1):c.4191G>T (p.Ser1397=) rs756553815
NM_138694.4(PKHD1):c.4200G>T (p.Ser1400=) rs767936065
NM_138694.4(PKHD1):c.4203A>G (p.Ala1401=) rs2128144601
NM_138694.4(PKHD1):c.4203A>T (p.Ala1401=)
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del) rs1802029655
NM_138694.4(PKHD1):c.4212G>C (p.Gly1404=) rs751984319
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr) rs1562166222
NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro)
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
NM_138694.4(PKHD1):c.4221T>A (p.Leu1407=) rs766639774
NM_138694.4(PKHD1):c.4224del (p.Thr1408_Val1409insTer) rs2128144542
NM_138694.4(PKHD1):c.4230G>A (p.Arg1410=) rs2128144521
NM_138694.4(PKHD1):c.4233G>A (p.Gly1411=)
NM_138694.4(PKHD1):c.4233G>T (p.Gly1411=)
NM_138694.4(PKHD1):c.4235del (p.Leu1412fs) rs2128144488
NM_138694.4(PKHD1):c.4236G>A (p.Leu1412=) rs2128144470
NM_138694.4(PKHD1):c.4244A>T (p.Asn1415Ile)
NM_138694.4(PKHD1):c.4248T>C (p.Ser1416=)
NM_138694.4(PKHD1):c.424del (p.Val142fs) rs2128236801
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=) rs577832997
NM_138694.4(PKHD1):c.4260A>G (p.Ser1420=) rs1802024421
NM_138694.4(PKHD1):c.4260A>T (p.Ser1420=) rs1802024421
NM_138694.4(PKHD1):c.4264C>A (p.Arg1422=) rs776583949
NM_138694.4(PKHD1):c.4269T>G (p.Val1423=)
NM_138694.4(PKHD1):c.4272C>T (p.Asp1424=)
NM_138694.4(PKHD1):c.4277C>A (p.Ser1426Ter)
NM_138694.4(PKHD1):c.4278G>A (p.Ser1426=)
NM_138694.4(PKHD1):c.4278G>C (p.Ser1426=) rs745566730
NM_138694.4(PKHD1):c.4284T>A (p.Pro1428=)
NM_138694.4(PKHD1):c.4284T>G (p.Pro1428=)
NM_138694.4(PKHD1):c.4290T>C (p.Thr1430=) rs373579694
NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe) rs753307105
NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp)
NM_138694.4(PKHD1):c.4295del (p.Val1432fs) rs1246693314
NM_138694.4(PKHD1):c.42A>G (p.Leu14=) rs764307504
NM_138694.4(PKHD1):c.4300T>C (p.Leu1434=)
NM_138694.4(PKHD1):c.4304G>A (p.Ser1435Asn) rs138242579
NM_138694.4(PKHD1):c.4306T>C (p.Leu1436=) rs2128144253
NM_138694.4(PKHD1):c.4314C>A (p.Asp1438Glu)
NM_138694.4(PKHD1):c.4317C>T (p.His1439=)
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs) rs1802018167
NM_138694.4(PKHD1):c.4328del (p.Cys1443fs)
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter) rs1581808463
NM_138694.4(PKHD1):c.4341G>A (p.Leu1447=) rs1562165566
NM_138694.4(PKHD1):c.4341G>C (p.Leu1447=) rs1562165566
NM_138694.4(PKHD1):c.4341G>T (p.Leu1447=) rs1562165566
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs) rs1554198780
NM_138694.4(PKHD1):c.4353C>A (p.Pro1451=) rs776581612
NM_138694.4(PKHD1):c.4362A>G (p.Gly1454=)
NM_138694.4(PKHD1):c.4363_4364delinsAA (p.Ala1455Asn) rs2128144041
NM_138694.4(PKHD1):c.4368C>T (p.Ser1456=)
NM_138694.4(PKHD1):c.4374C>T (p.Ser1458=)
NM_138694.4(PKHD1):c.4375_4390del (p.Leu1459fs)
NM_138694.4(PKHD1):c.4401G>A (p.Gly1467=)
NM_138694.4(PKHD1):c.4401G>T (p.Gly1467=)
NM_138694.4(PKHD1):c.4410C>T (p.Ser1470=)
NM_138694.4(PKHD1):c.4413G>A (p.Glu1471=) rs1802003938
NM_138694.4(PKHD1):c.4415G>A (p.Cys1472Tyr)
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter) rs1554198717
NM_138694.4(PKHD1):c.441T>A (p.Gly147=) rs1240264139
NM_138694.4(PKHD1):c.4428C>T (p.Cys1476=) rs1369026474
NM_138694.4(PKHD1):c.4436dup (p.Ile1480fs) rs1801998818
NM_138694.4(PKHD1):c.4444_4450del (p.Glu1482fs)
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_138694.4(PKHD1):c.4459G>C (p.Val1487Leu)
NM_138694.4(PKHD1):c.4463T>C (p.Met1488Thr) rs1801992008
NM_138694.4(PKHD1):c.4465G>C (p.Asp1489His)
NM_138694.4(PKHD1):c.4467T>C (p.Asp1489=)
NM_138694.4(PKHD1):c.4476C>T (p.Ser1492=) rs767459915
NM_138694.4(PKHD1):c.4477A>C (p.Thr1493Pro) rs745429712
NM_138694.4(PKHD1):c.4479A>C (p.Thr1493=)
NM_138694.4(PKHD1):c.448+15A>G
NM_138694.4(PKHD1):c.448+16T>C
NM_138694.4(PKHD1):c.448+2T>C rs1057517270
NM_138694.4(PKHD1):c.448+7A>G
NM_138694.4(PKHD1):c.448+9T>A
NM_138694.4(PKHD1):c.448+9T>G rs2128236756
NM_138694.4(PKHD1):c.4482C>T (p.Asn1494=) rs1581807072
NM_138694.4(PKHD1):c.4485del (p.Ser1496fs) rs1325403863
NM_138694.4(PKHD1):c.4488T>C (p.Ser1496=) rs2128143658
NM_138694.4(PKHD1):c.4489G>A (p.Gly1497Arg)
NM_138694.4(PKHD1):c.448G>T (p.Gly150Ter)
NM_138694.4(PKHD1):c.449-12T>C
NM_138694.4(PKHD1):c.449-13C>A
NM_138694.4(PKHD1):c.449-14T>G
NM_138694.4(PKHD1):c.449-15T>C
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.449-1G>A
NM_138694.4(PKHD1):c.449-6A>C rs200204976
NM_138694.4(PKHD1):c.449-6A>T rs200204976
NM_138694.4(PKHD1):c.449-7C>T
NM_138694.4(PKHD1):c.4491G>A (p.Gly1497=)
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.4494T>C (p.Ser1498=)
NM_138694.4(PKHD1):c.4496del (p.Leu1499fs)
NM_138694.4(PKHD1):c.4500C>A (p.Thr1500=) rs2128143589
NM_138694.4(PKHD1):c.4503T>G (p.Thr1501=) rs1554198630
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu) rs1581806804
NM_138694.4(PKHD1):c.4506G>A (p.Val1502=) rs2128143557
NM_138694.4(PKHD1):c.450A>G (p.Gly150=) rs1362033015
NM_138694.4(PKHD1):c.4519C>T (p.Gln1507Ter)
NM_138694.4(PKHD1):c.4530C>T (p.Ala1510=) rs1801976409
NM_138694.4(PKHD1):c.4533C>G (p.Thr1511=)
NM_138694.4(PKHD1):c.4539T>C (p.Ala1513=) rs2128143441
NM_138694.4(PKHD1):c.453A>G (p.Lys151=)
NM_138694.4(PKHD1):c.4542T>C (p.Asp1514=)
NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter) rs1433540169
NM_138694.4(PKHD1):c.4545G>A (p.Glu1515=) rs2128143401
NM_138694.4(PKHD1):c.4548G>C (p.Pro1516=) rs141745652
NM_138694.4(PKHD1):c.454C>G (p.Leu152Val) rs2128234015
NM_138694.4(PKHD1):c.4554A>G (p.Val1518=) rs1562163878
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs) rs1057516382
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr) rs1810936262
NM_138694.4(PKHD1):c.459A>T (p.Ile153=)
NM_138694.4(PKHD1):c.465A>G (p.Val155=)
NM_138694.4(PKHD1):c.468T>C (p.Tyr156=) rs2128233946
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer) rs1554224707
NM_138694.4(PKHD1):c.46T>C (p.Leu16=) rs1219432577
NM_138694.4(PKHD1):c.47T>A (p.Leu16Ter)
NM_138694.4(PKHD1):c.483T>C (p.Thr161=)
NM_138694.4(PKHD1):c.484G>T (p.Gly162Ter) rs1210505160
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) rs1057517220
NM_138694.4(PKHD1):c.501T>C (p.Phe167=) rs2128233874
NM_138694.4(PKHD1):c.507del (p.Phe169fs) rs2128233864
NM_138694.4(PKHD1):c.50C>T (p.Ala17Val)
NM_138694.4(PKHD1):c.510T>C (p.Asp170=) rs1189377511
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
NM_138694.4(PKHD1):c.52+12G>A
NM_138694.4(PKHD1):c.52+13T>A
NM_138694.4(PKHD1):c.52+14G>A
NM_138694.4(PKHD1):c.52+19G>A
NM_138694.4(PKHD1):c.5237-11dup
NM_138694.4(PKHD1):c.5237-15C>A
NM_138694.4(PKHD1):c.5237-16A>G
NM_138694.4(PKHD1):c.5237-2A>C rs1554197152
NM_138694.4(PKHD1):c.5242C>T (p.Leu1748=) rs1451424644
NM_138694.4(PKHD1):c.5253G>A (p.Arg1751=) rs1192788023
NM_138694.4(PKHD1):c.5259G>A (p.Val1753=) rs200864129
NM_138694.4(PKHD1):c.5259G>C (p.Val1753=) rs200864129
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=) rs200864129
NM_138694.4(PKHD1):c.525T>C (p.Asp175=) rs146322698
NM_138694.4(PKHD1):c.525del (p.Asp175fs) rs1810924520
NM_138694.4(PKHD1):c.5261_5262del (p.His1754fs)
NM_138694.4(PKHD1):c.5263G>A (p.Val1755Met) rs1201402132
NM_138694.4(PKHD1):c.5265G>A (p.Val1755=)
NM_138694.4(PKHD1):c.5268T>C (p.Phe1756=)
NM_138694.4(PKHD1):c.527+11G>A
NM_138694.4(PKHD1):c.527+12T>C
NM_138694.4(PKHD1):c.527+15G>T
NM_138694.4(PKHD1):c.527+1del rs1057516697
NM_138694.4(PKHD1):c.527+20T>G
NM_138694.4(PKHD1):c.527+7G>A
NM_138694.4(PKHD1):c.527+8T>C rs2128233790
NM_138694.4(PKHD1):c.5273C>T (p.Ala1758Val)
NM_138694.4(PKHD1):c.5274G>C (p.Ala1758=)
NM_138694.4(PKHD1):c.528-16T>C
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.528-19C>T
NM_138694.4(PKHD1):c.528-19del
NM_138694.4(PKHD1):c.528-6A>C
NM_138694.4(PKHD1):c.528-8A>T
NM_138694.4(PKHD1):c.528-9del rs753686281
NM_138694.4(PKHD1):c.53-12A>T
NM_138694.4(PKHD1):c.53-14dup
NM_138694.4(PKHD1):c.53-18T>A
NM_138694.4(PKHD1):c.53-2A>G rs1554228601
NM_138694.4(PKHD1):c.53-3C>A
NM_138694.4(PKHD1):c.53-4A>G
NM_138694.4(PKHD1):c.53-4dup
NM_138694.4(PKHD1):c.53-5T>C
NM_138694.4(PKHD1):c.53-6_53-3del
NM_138694.4(PKHD1):c.53-7C>T rs2128244779
NM_138694.4(PKHD1):c.5310_5311del (p.Cys1770fs)
NM_138694.4(PKHD1):c.531A>G (p.Pro177=) rs1582101669
NM_138694.4(PKHD1):c.5322C>A (p.Cys1774Ter) rs2128138552
NM_138694.4(PKHD1):c.5323C>A (p.Arg1775=)
NM_138694.4(PKHD1):c.5325A>G (p.Arg1775=)
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs) rs794727572
NM_138694.4(PKHD1):c.5328C>A (p.Val1776=) rs1474433863
NM_138694.4(PKHD1):c.5329C>T (p.Leu1777=)
NM_138694.4(PKHD1):c.5334dup (p.Asn1779Ter) rs1801600694
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser)
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile) rs1554197025
NM_138694.4(PKHD1):c.5349T>G (p.Ser1783=) rs1801599175
NM_138694.4(PKHD1):c.534G>A (p.Val178=) rs1226545035
NM_138694.4(PKHD1):c.534G>T (p.Val178=)
NM_138694.4(PKHD1):c.5356A>G (p.Ser1786Gly)
NM_138694.4(PKHD1):c.5361C>T (p.Cys1787=) rs1801596341
NM_138694.4(PKHD1):c.5364G>A (p.Leu1788=)
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu) rs1288521396
NM_138694.4(PKHD1):c.5367T>C (p.Val1789=)
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=) rs758616921
NM_138694.4(PKHD1):c.5372C>A (p.Pro1791His) rs886042677
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_138694.4(PKHD1):c.5374C>T (p.Leu1792=)
NM_138694.4(PKHD1):c.5374del (p.Leu1792fs) rs2128138378
NM_138694.4(PKHD1):c.537C>A (p.Ile179=) rs760480311
NM_138694.4(PKHD1):c.5380+10G>C rs988478398
NM_138694.4(PKHD1):c.5380+10G>T rs988478398
NM_138694.4(PKHD1):c.5380+12T>C
NM_138694.4(PKHD1):c.5380+15C>T
NM_138694.4(PKHD1):c.5380+16A>G
NM_138694.4(PKHD1):c.5380+2T>G rs1801591463
NM_138694.4(PKHD1):c.5380+9A>G
NM_138694.4(PKHD1):c.5381-11G>A
NM_138694.4(PKHD1):c.5381-17G>A
NM_138694.4(PKHD1):c.5381-5T>C rs878878746
NM_138694.4(PKHD1):c.5381-7_5385del rs2128130561
NM_138694.4(PKHD1):c.5381-9T>G rs1332944383
NM_138694.4(PKHD1):c.5381T>C (p.Val1794Ala) rs780643984
NM_138694.4(PKHD1):c.5386T>C (p.Leu1796=)
NM_138694.4(PKHD1):c.538T>C (p.Leu180=)
NM_138694.4(PKHD1):c.5391C>T (p.Ala1797=)
NM_138694.4(PKHD1):c.5394C>T (p.Phe1798=)
NM_138694.4(PKHD1):c.5395C>T (p.Leu1799=)
NM_138694.4(PKHD1):c.5397G>T (p.Leu1799=)
NM_138694.4(PKHD1):c.5404C>T (p.Leu1802=) rs1800750150
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5411G>T (p.Arg1804Leu)
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5415G>A (p.Glu1805=) rs2128130480
NM_138694.4(PKHD1):c.5415GGA[1] (p.Glu1806del) rs1554194551
NM_138694.4(PKHD1):c.5418G>A (p.Glu1806=) rs1210193863
NM_138694.4(PKHD1):c.5420del (p.Asp1807fs)
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr) rs1800745257
NM_138694.4(PKHD1):c.5440C>T (p.His1814Tyr) rs1800742665
NM_138694.4(PKHD1):c.5441dup (p.His1814fs) rs908880474
NM_138694.4(PKHD1):c.5442C>T (p.His1814=) rs1464152176
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter) rs1057516692
NM_138694.4(PKHD1):c.5454G>A (p.Gln1818=) rs1800738202
NM_138694.4(PKHD1):c.5457_5458del (p.Cys1819_Asp1820delinsTer) rs1554194504
NM_138694.4(PKHD1):c.5460T>C (p.Asp1820=)
NM_138694.4(PKHD1):c.5462del (p.Asp1820_Leu1821insTer) rs2128130342
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs) rs1562140771
NM_138694.4(PKHD1):c.5469T>C (p.Val1823=) rs2128130314
NM_138694.4(PKHD1):c.546T>C (p.Ala182=)
NM_138694.4(PKHD1):c.5473A>G (p.Met1825Val)
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter) rs2128231908
NM_138694.4(PKHD1):c.5481A>G (p.Thr1827=)
NM_138694.4(PKHD1):c.5484G>A (p.Glu1828=) rs2128130263
NM_138694.4(PKHD1):c.5490G>C (p.Leu1830=)
NM_138694.4(PKHD1):c.5502G>A (p.Trp1834Ter) rs1800728912
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5521G>T (p.Glu1841Ter)
NM_138694.4(PKHD1):c.5526A>G (p.Glu1842=) rs989019602
NM_138694.4(PKHD1):c.5538C>A (p.Cys1846Ter)
NM_138694.4(PKHD1):c.5544T>C (p.Phe1848=)
NM_138694.4(PKHD1):c.5550A>C (p.Pro1850=)
NM_138694.4(PKHD1):c.555C>T (p.Asp185=) rs2128231895
NM_138694.4(PKHD1):c.5565G>A (p.Glu1855=) rs1800718076
NM_138694.4(PKHD1):c.5574T>G (p.Phe1858Leu) rs1562140096
NM_138694.4(PKHD1):c.5577A>T (p.Pro1859=) rs1024780605
NM_138694.4(PKHD1):c.5583C>T (p.Phe1861=)
NM_138694.4(PKHD1):c.5585C>A (p.Ser1862Ter)
NM_138694.4(PKHD1):c.5586G>T (p.Ser1862=)
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys) rs776275341
NM_138694.4(PKHD1):c.5589C>T (p.Gly1863=)
NM_138694.4(PKHD1):c.5592C>G (p.Leu1864=) rs2128130007
NM_138694.4(PKHD1):c.5598C>T (p.Ile1866=)
NM_138694.4(PKHD1):c.5599A>G (p.Ser1867Gly)
NM_138694.4(PKHD1):c.5600+10C>A
NM_138694.4(PKHD1):c.5600+10C>T
NM_138694.4(PKHD1):c.5600+11C>T
NM_138694.4(PKHD1):c.5600+15T>A
NM_138694.4(PKHD1):c.5600+16C>G
NM_138694.4(PKHD1):c.5600+17C>G
NM_138694.4(PKHD1):c.5600+18C>T
NM_138694.4(PKHD1):c.5600+6T>C rs1800710573
NM_138694.4(PKHD1):c.5600+7T>G
NM_138694.4(PKHD1):c.5600+9A>G
NM_138694.4(PKHD1):c.5601-11del
NM_138694.4(PKHD1):c.5601-12C>T
NM_138694.4(PKHD1):c.5601-15C>T
NM_138694.4(PKHD1):c.5601-19A>T
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter) rs1810710453
NM_138694.4(PKHD1):c.5613A>G (p.Glu1871=)
NM_138694.4(PKHD1):c.5616A>G (p.Arg1872=)
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
NM_138694.4(PKHD1):c.5622A>G (p.Glu1874=)
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
NM_138694.4(PKHD1):c.5631C>T (p.Ile1877=) rs2128117364
NM_138694.4(PKHD1):c.5634T>C (p.Tyr1878=) rs2128117356
NM_138694.4(PKHD1):c.5641_5649del (p.Ser1881_Asn1883del) rs1554191359
NM_138694.4(PKHD1):c.5642C>A (p.Ser1881Tyr) rs864622533
NM_138694.4(PKHD1):c.5649C>T (p.Asn1883=)
NM_138694.4(PKHD1):c.5655C>T (p.Thr1885=)
NM_138694.4(PKHD1):c.5656del (p.Met1886fs)
NM_138694.4(PKHD1):c.5660A>C (p.Glu1887Ala)
NM_138694.4(PKHD1):c.5665del (p.Glu1889fs) rs1581727260
NM_138694.4(PKHD1):c.5667G>A (p.Glu1889=)
NM_138694.4(PKHD1):c.5670A>C (p.Ala1890=) rs1394770264
NM_138694.4(PKHD1):c.5679G>A (p.Glu1893=)
NM_138694.4(PKHD1):c.567T>C (p.Thr189=) rs2128231870
NM_138694.4(PKHD1):c.5680T>A (p.Cys1894Ser) rs2128117206
NM_138694.4(PKHD1):c.5687C>G (p.Thr1896Arg)
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs) rs1554191298
NM_138694.4(PKHD1):c.5693A>G (p.Asn1898Ser)
NM_138694.4(PKHD1):c.5695C>T (p.Gln1899Ter) rs2128117147
NM_138694.4(PKHD1):c.5700A>T (p.Pro1900=) rs1405636454
NM_138694.4(PKHD1):c.5703T>A (p.Ile1901=) rs2128117109
NM_138694.4(PKHD1):c.5708T>C (p.Val1903Ala)
NM_138694.4(PKHD1):c.5733C>T (p.Arg1911=)
NM_138694.4(PKHD1):c.5739C>T (p.Gly1913=)
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter)
NM_138694.4(PKHD1):c.5742del (p.Asn1915fs)
NM_138694.4(PKHD1):c.5744A>G (p.Asn1915Ser)
NM_138694.4(PKHD1):c.5748T>C (p.Thr1916=)
NM_138694.4(PKHD1):c.5751+10A>G rs1799638344
NM_138694.4(PKHD1):c.5751+13C>A
NM_138694.4(PKHD1):c.5751+16T>G
NM_138694.4(PKHD1):c.5751+19T>C
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525
NM_138694.4(PKHD1):c.5751+8C>A
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5752-11C>T
NM_138694.4(PKHD1):c.5752-13C>G
NM_138694.4(PKHD1):c.5752-1G>C
NM_138694.4(PKHD1):c.5752-20C>A
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5752-32CCAACCCA[3]
NM_138694.4(PKHD1):c.5752-4C>T rs2127947734
NM_138694.4(PKHD1):c.5757C>T (p.Asn1919=)
NM_138694.4(PKHD1):c.575_578del (p.Ser192fs)
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) rs1791765505
NM_138694.4(PKHD1):c.5767_5768del (p.Gln1923fs) rs2127947553
NM_138694.4(PKHD1):c.5769G>A (p.Gln1923=) rs2127947517
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp) rs543037335
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs) rs1791763088
NM_138694.4(PKHD1):c.5781A>G (p.Arg1927=)
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
NM_138694.4(PKHD1):c.5784G>A (p.Trp1928Ter) rs1791760028
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe) rs1791759592
NM_138694.4(PKHD1):c.5787C>T (p.Ser1929=) rs1561990875
NM_138694.4(PKHD1):c.5793T>A (p.Thr1931=) rs2127947286
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
NM_138694.4(PKHD1):c.579T>A (p.Leu193=) rs770367964
NM_138694.4(PKHD1):c.57T>A (p.Arg19=)
NM_138694.4(PKHD1):c.5808T>G (p.Pro1936=)
NM_138694.4(PKHD1):c.5812A>C (p.Arg1938=) rs2127947177
NM_138694.4(PKHD1):c.5815C>T (p.Leu1939=) rs1791754720
NM_138694.4(PKHD1):c.5817G>A (p.Leu1939=) rs1791754319
NM_138694.4(PKHD1):c.5817G>C (p.Leu1939=) rs1791754319
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5838C>T (p.Val1946=) rs769415024
NM_138694.4(PKHD1):c.5841A>C (p.Thr1947=) rs780854942
NM_138694.4(PKHD1):c.5850T>C (p.Asn1950=) rs746505173
NM_138694.4(PKHD1):c.5856A>G (p.Gln1952=) rs985097693
NM_138694.4(PKHD1):c.5858del (p.Leu1953fs) rs2127946739
NM_138694.4(PKHD1):c.5862_5864del (p.Leu1956del) rs1554162788
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)
NM_138694.4(PKHD1):c.5877C>T (p.Asn1959=) rs955588679
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5885T>G (p.Ile1962Ser) rs756573585
NM_138694.4(PKHD1):c.5886C>T (p.Ile1962=)
NM_138694.4(PKHD1):c.5889C>T (p.Leu1963=) rs2127946558
NM_138694.4(PKHD1):c.5893T>C (p.Leu1965=)
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs) rs1554162725
NM_138694.4(PKHD1):c.5898G>A (p.Leu1966=) rs2127946451
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_138694.4(PKHD1):c.5908+13T>C
NM_138694.4(PKHD1):c.5908+19T>G rs762848183
NM_138694.4(PKHD1):c.5908+9A>C
NM_138694.4(PKHD1):c.5909-11T>C
NM_138694.4(PKHD1):c.5909-12T>A
NM_138694.4(PKHD1):c.5909-15C>T
NM_138694.4(PKHD1):c.5909-19T>C
NM_138694.4(PKHD1):c.5909-2del rs1334913120
NM_138694.4(PKHD1):c.5909-46_5943del rs2127769312
NM_138694.4(PKHD1):c.5909-5A>G rs1787132430
NM_138694.4(PKHD1):c.5909-7C>T rs2127769611
NM_138694.4(PKHD1):c.5909-9G>C rs1244562445
NM_138694.4(PKHD1):c.5913C>A (p.Gly1971=)
NM_138694.4(PKHD1):c.5916G>A (p.Lys1972=) rs2127769498
NM_138694.4(PKHD1):c.5917C>T (p.Leu1973=)
NM_138694.4(PKHD1):c.5925C>T (p.Phe1975=)
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.5940C>T (p.Pro1980=) rs1787124894
NM_138694.4(PKHD1):c.5953del (p.Ala1985fs) rs1561921358
NM_138694.4(PKHD1):c.5959G>T (p.Ala1987Ser) rs375949362
NM_138694.4(PKHD1):c.5961C>T (p.Ala1987=)
NM_138694.4(PKHD1):c.5967T>C (p.Leu1989=) rs2127769064
NM_138694.4(PKHD1):c.5970T>C (p.Val1990=)
NM_138694.4(PKHD1):c.5979T>A (p.Gly1993=) rs1561921169
NM_138694.4(PKHD1):c.5979T>C (p.Gly1993=)
NM_138694.4(PKHD1):c.5982A>G (p.Gly1994=) rs2127768983
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly) rs1554144359
NM_138694.4(PKHD1):c.5985G>A (p.Glu1995=)
NM_138694.4(PKHD1):c.5989C>T (p.Arg1997Trp)
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr) rs1210348558
NM_138694.4(PKHD1):c.5994_5998del (p.Gly1999fs)
NM_138694.4(PKHD1):c.5995G>T (p.Gly1999Ter) rs2127768828
NM_138694.4(PKHD1):c.5996G>C (p.Gly1999Ala) rs2127768810
NM_138694.4(PKHD1):c.6000C>G (p.Ser2000=)
NM_138694.4(PKHD1):c.6000C>T (p.Ser2000=) rs780347387
NM_138694.4(PKHD1):c.6001G>T (p.Glu2001Ter)
NM_138694.4(PKHD1):c.6008del (p.Lys2003fs) rs2127768716
NM_138694.4(PKHD1):c.6009G>A (p.Lys2003=)
NM_138694.4(PKHD1):c.601T>G (p.Cys201Gly) rs1810703881
NM_138694.4(PKHD1):c.602+19T>C
NM_138694.4(PKHD1):c.602+1G>A rs1554223950
NM_138694.4(PKHD1):c.602+2T>A rs2128231798
NM_138694.4(PKHD1):c.602+7G>A rs1810701904
NM_138694.4(PKHD1):c.602+8T>C rs2128231779
NM_138694.4(PKHD1):c.6029del (p.Gln2010fs) rs1561920869
NM_138694.4(PKHD1):c.603-16T>A
NM_138694.4(PKHD1):c.603-19C>G
NM_138694.4(PKHD1):c.603-1G>A rs1554223403
NM_138694.4(PKHD1):c.603-6C>T
NM_138694.4(PKHD1):c.603-8T>C rs2128230211
NM_138694.4(PKHD1):c.6033C>A (p.Ile2011=)
NM_138694.4(PKHD1):c.6033C>T (p.Ile2011=)
NM_138694.4(PKHD1):c.6038T>C (p.Leu2013Pro) rs1554144276
NM_138694.4(PKHD1):c.6039C>T (p.Leu2013=) rs2127768520
NM_138694.4(PKHD1):c.6050C>G (p.Ser2017Cys) rs1787094080
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.6077del (p.Gly2026fs)
NM_138694.4(PKHD1):c.6090G>C (p.Leu2030=) rs1787086867
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.60C>T (p.His20=) rs759338217
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6111T>C (p.Leu2037=) rs2127768077
NM_138694.4(PKHD1):c.6111_6112insG (p.Ser2038fs)
NM_138694.4(PKHD1):c.6114T>A (p.Ser2038=) rs527565899
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
NM_138694.4(PKHD1):c.6121+10G>A rs745924449
NM_138694.4(PKHD1):c.6121+13A>G
NM_138694.4(PKHD1):c.6121+16G>C
NM_138694.4(PKHD1):c.6121+1G>T rs2127767937
NM_138694.4(PKHD1):c.6122-10G>A rs2127668280
NM_138694.4(PKHD1):c.6122-13C>G
NM_138694.4(PKHD1):c.6122-17T>C
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA rs1057517378
NM_138694.4(PKHD1):c.6122-6C>G rs1583333066
NM_138694.4(PKHD1):c.6122-9dup
NM_138694.4(PKHD1):c.6122G>T (p.Gly2041Val) rs2127668227
NM_138694.4(PKHD1):c.6126A>G (p.Ser2042=)
NM_138694.4(PKHD1):c.6147C>T (p.Thr2049=) rs2127668037
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser) rs551783157
NM_138694.4(PKHD1):c.6165C>T (p.Ala2055=)
NM_138694.4(PKHD1):c.6170C>A (p.Ala2057Asp)
NM_138694.4(PKHD1):c.6177C>T (p.Asp2059=) rs1286584147
NM_138694.4(PKHD1):c.6183G>A (p.Val2061=)
NM_138694.4(PKHD1):c.6186G>T (p.Leu2062=)
NM_138694.4(PKHD1):c.618G>A (p.Glu206=)
NM_138694.4(PKHD1):c.61C>T (p.Leu21=) rs2128244729
NM_138694.4(PKHD1):c.6201T>A (p.Ala2067=)
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)
NM_138694.4(PKHD1):c.621C>T (p.Asp207=)
NM_138694.4(PKHD1):c.6225A>G (p.Glu2075=)
NM_138694.4(PKHD1):c.6226G>A (p.Val2076Ile)
NM_138694.4(PKHD1):c.6234C>T (p.Ile2078=)
NM_138694.4(PKHD1):c.6240T>C (p.Ser2080=) rs2127667413
NM_138694.4(PKHD1):c.6243A>T (p.Gly2081=)
NM_138694.4(PKHD1):c.6249T>G (p.Gly2083=)
NM_138694.4(PKHD1):c.6267G>A (p.Pro2089=) rs1399100600
NM_138694.4(PKHD1):c.6273_6285delinsGA (p.Glu2092fs)
NM_138694.4(PKHD1):c.6282C>T (p.Val2094=) rs919892457
NM_138694.4(PKHD1):c.6294T>A (p.Thr2098=)
NM_138694.4(PKHD1):c.6294T>G (p.Thr2098=)
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6297G>A (p.Val2099=)
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs) rs1554134080
NM_138694.4(PKHD1):c.6315T>C (p.Tyr2105=) rs1485735734
NM_138694.4(PKHD1):c.6332+12C>T rs1416468619
NM_138694.4(PKHD1):c.6332+18G>C
NM_138694.4(PKHD1):c.6332+1G>A
NM_138694.4(PKHD1):c.6332+2T>A rs1783090781
NM_138694.4(PKHD1):c.6333-10T>A rs2127664861
NM_138694.4(PKHD1):c.6333-13T>C
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-14C>G
NM_138694.4(PKHD1):c.6333-17C>T
NM_138694.4(PKHD1):c.6333-19A>G
NM_138694.4(PKHD1):c.6333-34_6333-20del
NM_138694.4(PKHD1):c.6333-4C>G
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6336T>G (p.Tyr2112Ter) rs2127664665
NM_138694.4(PKHD1):c.6357T>C (p.Asn2119=) rs995717817
NM_138694.4(PKHD1):c.6360G>C (p.Trp2120Cys) rs1440253606
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs)
NM_138694.4(PKHD1):c.6366T>G (p.Ala2122=) rs2127664431
NM_138694.4(PKHD1):c.636T>A (p.Thr212=) rs2128230164
NM_138694.4(PKHD1):c.636T>C (p.Thr212=)
NM_138694.4(PKHD1):c.6372G>A (p.Glu2124=) rs1583328896
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.6390C>T (p.Ala2130=)
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs) rs1783005266
NM_138694.4(PKHD1):c.6392dup (p.Val2132fs) rs2127664245
NM_138694.4(PKHD1):c.6393T>C (p.Thr2131=)
NM_138694.4(PKHD1):c.6405C>T (p.Leu2135=) rs2127664115
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs)
NM_138694.4(PKHD1):c.6439_6441del (p.Asn2147del) rs1554133798
NM_138694.4(PKHD1):c.6447G>A (p.Arg2149=)
NM_138694.4(PKHD1):c.6454C>T (p.Leu2152=)
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter) rs557437764
NM_138694.4(PKHD1):c.6462T>G (p.Val2154=) rs878852998
NM_138694.4(PKHD1):c.6468C>T (p.Cys2156=)
NM_138694.4(PKHD1):c.6472G>T (p.Glu2158Ter)
NM_138694.4(PKHD1):c.6477C>T (p.Ala2159=) rs2127663480
NM_138694.4(PKHD1):c.6480T>C (p.Asn2160=)
NM_138694.4(PKHD1):c.648T>C (p.His216=)
NM_138694.4(PKHD1):c.6490+11G>C
NM_138694.4(PKHD1):c.6490+11_6490+12del
NM_138694.4(PKHD1):c.6490+14T>C
NM_138694.4(PKHD1):c.6490+14T>G
NM_138694.4(PKHD1):c.6490+1G>A rs1554133736
NM_138694.4(PKHD1):c.6490G>A (p.Gly2164Ser) rs147595459
NM_138694.4(PKHD1):c.6491-15dup
NM_138694.4(PKHD1):c.6491-1G>A rs1554132790
NM_138694.4(PKHD1):c.6491-2A>G rs2127653183
NM_138694.4(PKHD1):c.6491-7A>C
NM_138694.4(PKHD1):c.6495T>C (p.Asn2165=)
NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter) rs368263958
NM_138694.4(PKHD1):c.6506G>A (p.Cys2169Tyr)
NM_138694.4(PKHD1):c.6506_6511delinsC (p.Cys2169fs)
NM_138694.4(PKHD1):c.6507T>C (p.Cys2169=) rs2127652943
NM_138694.4(PKHD1):c.6508_6511del (p.Leu2170fs)
NM_138694.4(PKHD1):c.6516C>T (p.Ser2172=)
NM_138694.4(PKHD1):c.651G>C (p.Val217=) rs2128230121
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter) rs1057516706
NM_138694.4(PKHD1):c.6534A>G (p.Leu2178=)
NM_138694.4(PKHD1):c.6537A>G (p.Gly2179=) rs764411713
NM_138694.4(PKHD1):c.6568C>T (p.Gln2190Ter) rs1782629977
NM_138694.4(PKHD1):c.6573C>T (p.Ser2191=)
NM_138694.4(PKHD1):c.6579A>G (p.Pro2193=) rs947354259
NM_138694.4(PKHD1):c.6580G>C (p.Glu2194Gln)
NM_138694.4(PKHD1):c.6592C>T (p.Gln2198Ter)
NM_138694.4(PKHD1):c.6601T>C (p.Leu2201=) rs923403903
NM_138694.4(PKHD1):c.6609A>G (p.Gly2203=)
NM_138694.4(PKHD1):c.6623T>G (p.Val2208Gly)
NM_138694.4(PKHD1):c.6624C>G (p.Val2208=)
NM_138694.4(PKHD1):c.6625T>C (p.Leu2209=)
NM_138694.4(PKHD1):c.6627G>A (p.Leu2209=) rs2127652048
NM_138694.4(PKHD1):c.6629G>A (p.Gly2210Glu)
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.6633A>G (p.Gln2211=) rs2127652021
NM_138694.4(PKHD1):c.6635C>G (p.Ala2212Gly)
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg) rs778124617
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) rs369925690
NM_138694.4(PKHD1):c.6652A>T (p.Ser2218Cys) rs756450923
NM_138694.4(PKHD1):c.6658del (p.Leu2220fs) rs2127651823
NM_138694.4(PKHD1):c.6660C>T (p.Leu2220=) rs2127651770
NM_138694.4(PKHD1):c.6663T>G (p.Thr2221=)
NM_138694.4(PKHD1):c.667+10A>G rs2128230077
NM_138694.4(PKHD1):c.667+11G>C
NM_138694.4(PKHD1):c.667+18C>T
NM_138694.4(PKHD1):c.6672A>T (p.Gly2224=) rs2127651668
NM_138694.4(PKHD1):c.6675T>A (p.Ala2225=)
NM_138694.4(PKHD1):c.668-15T>C
NM_138694.4(PKHD1):c.668-17G>A
NM_138694.4(PKHD1):c.668-17del rs761316404
NM_138694.4(PKHD1):c.668-5T>A rs2128229251
NM_138694.4(PKHD1):c.6682+10T>A
NM_138694.4(PKHD1):c.6682+10del rs2127651533
NM_138694.4(PKHD1):c.6682+12C>T
NM_138694.4(PKHD1):c.6682+13G>A
NM_138694.4(PKHD1):c.6682+17C>T
NM_138694.4(PKHD1):c.6682+7G>C
NM_138694.4(PKHD1):c.6682+9G>C rs2127651544
NM_138694.4(PKHD1):c.6682+9G>T rs2127651544
NM_138694.4(PKHD1):c.6683-11T>C
NM_138694.4(PKHD1):c.6683-14T>C
NM_138694.4(PKHD1):c.6683-15C>T
NM_138694.4(PKHD1):c.6683-16A>T
NM_138694.4(PKHD1):c.6683-17T>C
NM_138694.4(PKHD1):c.6683-20C>T
NM_138694.4(PKHD1):c.6683-2A>C rs2127637373
NM_138694.4(PKHD1):c.6683-3C>T rs1554300531
NM_138694.4(PKHD1):c.6683-4T>G
NM_138694.4(PKHD1):c.6683-6A>G
NM_138694.4(PKHD1):c.6683-8C>G
NM_138694.4(PKHD1):c.6691A>G (p.Ile2231Val) rs2127637295
NM_138694.4(PKHD1):c.6708G>A (p.Val2236=) rs781493877
NM_138694.4(PKHD1):c.6714C>T (p.Asn2238=)
NM_138694.4(PKHD1):c.6723T>C (p.Ser2241=) rs2127636990
NM_138694.4(PKHD1):c.6729C>A (p.Gly2243=)
NM_138694.4(PKHD1):c.6730C>G (p.Leu2244Val)
NM_138694.4(PKHD1):c.6741C>T (p.Cys2247=) rs750190287
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=) rs900150542
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=) rs368194577
NM_138694.4(PKHD1):c.6756G>T (p.Leu2252=) rs368194577
NM_138694.4(PKHD1):c.6759G>A (p.Lys2253=) rs2127636674
NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly)
NM_138694.4(PKHD1):c.6765del (p.Asp2255fs)
NM_138694.4(PKHD1):c.6768T>C (p.Ser2256=) rs2127636604
NM_138694.4(PKHD1):c.6771T>G (p.Asn2257Lys) rs1315333212
NM_138694.4(PKHD1):c.6777C>G (p.Phe2259Leu)
NM_138694.4(PKHD1):c.6778del (p.Tyr2260fs) rs1782064827
NM_138694.4(PKHD1):c.6783T>C (p.Asn2261=)
NM_138694.4(PKHD1):c.6792T>G (p.Gly2264=)
NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr)
NM_138694.4(PKHD1):c.6794A>T (p.His2265Leu)
NM_138694.4(PKHD1):c.6798G>T (p.Ala2266=)
NM_138694.4(PKHD1):c.6799C>T (p.Leu2267=) rs202099228
NM_138694.4(PKHD1):c.6801G>T (p.Leu2267=) rs2127636193
NM_138694.4(PKHD1):c.6804A>T (p.Leu2268=)
NM_138694.4(PKHD1):c.6805_6806insCTAT (p.Val2269fs)
NM_138694.4(PKHD1):c.6808+12A>G
NM_138694.4(PKHD1):c.6808+14G>A
NM_138694.4(PKHD1):c.6808+17T>A
NM_138694.4(PKHD1):c.6808+19T>C
NM_138694.4(PKHD1):c.6808+20T>C
NM_138694.4(PKHD1):c.6808+8A>G rs2127636084
NM_138694.4(PKHD1):c.6808+9A>T
NM_138694.4(PKHD1):c.6809-15G>A
NM_138694.4(PKHD1):c.6809-19T>C
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
NM_138694.4(PKHD1):c.6809-5C>T
NM_138694.4(PKHD1):c.6809-8G>T
NM_138694.4(PKHD1):c.6810G>A (p.Gly2270=) rs1781701249
NM_138694.4(PKHD1):c.6813A>G (p.Thr2271=)
NM_138694.4(PKHD1):c.6816C>T (p.Cys2272=)
NM_138694.4(PKHD1):c.6822G>A (p.Glu2274=) rs1583295906
NM_138694.4(PKHD1):c.6831T>C (p.Tyr2277=) rs780266343
NM_138694.4(PKHD1):c.6834C>T (p.Ile2278=)
NM_138694.4(PKHD1):c.6835del (p.Ser2279fs)
NM_138694.4(PKHD1):c.6839G>A (p.Trp2280Ter) rs758404336
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter) rs1583295819
NM_138694.4(PKHD1):c.6852T>C (p.His2284=) rs2127624985
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs) rs760921148
NM_138694.4(PKHD1):c.6865+11A>G
NM_138694.4(PKHD1):c.6865+16G>T
NM_138694.4(PKHD1):c.6865+1G>A
NM_138694.4(PKHD1):c.6865+7A>G rs2127624877
NM_138694.4(PKHD1):c.6866-14T>C
NM_138694.4(PKHD1):c.6866-16_6866del rs1554299291
NM_138694.4(PKHD1):c.6866-1G>C rs1781631365
NM_138694.4(PKHD1):c.6866-1G>T
NM_138694.4(PKHD1):c.6866-2A>T
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.6866-5A>G rs886061617
NM_138694.4(PKHD1):c.6869G>T (p.Trp2290Leu)
NM_138694.4(PKHD1):c.6887TAA[1] (p.Ile2297del) rs1554299250
NM_138694.4(PKHD1):c.6888A>C (p.Ile2296=)
NM_138694.4(PKHD1):c.6893G>T (p.Arg2298Ile) rs1781623229
NM_138694.4(PKHD1):c.6900C>G (p.Asn2300Lys) rs776060304
NM_138694.4(PKHD1):c.690dup (p.Val231fs) rs2128229183
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter) rs1057516441
NM_138694.4(PKHD1):c.6912G>A (p.Gln2304=) rs1781618829
NM_138694.4(PKHD1):c.6918T>C (p.Ser2306=) rs1781618062
NM_138694.4(PKHD1):c.6919G>C (p.Gly2307Arg) rs765874902
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) rs373795139
NM_138694.4(PKHD1):c.6929del (p.Gly2310fs)
NM_138694.4(PKHD1):c.6933C>G (p.Leu2311=) rs2127622347
NM_138694.4(PKHD1):c.6936C>G (p.Ser2312=)
NM_138694.4(PKHD1):c.6936C>T (p.Ser2312=)
NM_138694.4(PKHD1):c.6938A>G (p.Asn2313Ser) rs1334374415
NM_138694.4(PKHD1):c.6942T>G (p.Pro2314=) rs376472715
NM_138694.4(PKHD1):c.6951G>A (p.Leu2317=) rs2127622175
NM_138694.4(PKHD1):c.6954A>G (p.Thr2318=) rs2127622136
NM_138694.4(PKHD1):c.6957A>G (p.Pro2319=) rs2127622037
NM_138694.4(PKHD1):c.6975C>T (p.Cys2325=) rs2127621930
NM_138694.4(PKHD1):c.6987T>C (p.Asn2329=)
NM_138694.4(PKHD1):c.6996+10del rs1781600286
NM_138694.4(PKHD1):c.6996+20C>A
NM_138694.4(PKHD1):c.6996+2del rs2127621751
NM_138694.4(PKHD1):c.6996+4A>T
NM_138694.4(PKHD1):c.6996+7T>C
NM_138694.4(PKHD1):c.6996+8G>A rs1212337597
NM_138694.4(PKHD1):c.6996G>A (p.Glu2332=) rs775831255
NM_138694.4(PKHD1):c.6997-13T>C
NM_138694.4(PKHD1):c.6997-13T>G
NM_138694.4(PKHD1):c.6997-14_6997-12del
NM_138694.4(PKHD1):c.6997-17C>A
NM_138694.4(PKHD1):c.6997-17C>T
NM_138694.4(PKHD1):c.6997-4G>C rs1382447658
NM_138694.4(PKHD1):c.6997-5T>C rs1422813423
NM_138694.4(PKHD1):c.6999G>A (p.Gly2333=) rs746844312
NM_138694.4(PKHD1):c.69A>G (p.Leu23=)
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
NM_138694.4(PKHD1):c.7008G>A (p.Val2336=)
NM_138694.4(PKHD1):c.7008G>C (p.Val2336=)
NM_138694.4(PKHD1):c.700A>G (p.Lys234Glu) rs2128229167
NM_138694.4(PKHD1):c.7011_7012del (p.Cys2337fs)
NM_138694.4(PKHD1):c.7020C>A (p.Gly2340=)
NM_138694.4(PKHD1):c.7020C>T (p.Gly2340=)
NM_138694.4(PKHD1):c.7023T>A (p.Tyr2341Ter)
NM_138694.4(PKHD1):c.7029C>A (p.Tyr2343Ter) rs202223718
NM_138694.4(PKHD1):c.7047C>T (p.Thr2349=) rs2127556875
NM_138694.4(PKHD1):c.705A>G (p.Gly235=)
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs) rs1583203255
NM_138694.4(PKHD1):c.7068G>C (p.Pro2356=) rs200774031
NM_138694.4(PKHD1):c.7068G>T (p.Pro2356=) rs200774031
NM_138694.4(PKHD1):c.707+12G>C
NM_138694.4(PKHD1):c.707+13G>C
NM_138694.4(PKHD1):c.707+19A>G
NM_138694.4(PKHD1):c.707+2T>C rs1554222939
NM_138694.4(PKHD1):c.7071T>C (p.Leu2357=) rs778548578
NM_138694.4(PKHD1):c.708-14del
NM_138694.4(PKHD1):c.708-17C>T
NM_138694.4(PKHD1):c.708-1G>A rs1554222508
NM_138694.4(PKHD1):c.708-2A>C rs753492974
NM_138694.4(PKHD1):c.7083T>C (p.Thr2361=) rs2127556575
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter) rs1057516221
NM_138694.4(PKHD1):c.7101T>A (p.Ser2367=)
NM_138694.4(PKHD1):c.7101T>C (p.Ser2367=)
NM_138694.4(PKHD1):c.7106_7108del (p.Thr2369del) rs1554290053
NM_138694.4(PKHD1):c.7107C>T (p.Thr2369=) rs780245178
NM_138694.4(PKHD1):c.7109+15A>C
NM_138694.4(PKHD1):c.7109+19A>C
NM_138694.4(PKHD1):c.7109+19A>G
NM_138694.4(PKHD1):c.7109+19A>T
NM_138694.4(PKHD1):c.7109+7T>C rs2127556263
NM_138694.4(PKHD1):c.7110-11T>C
NM_138694.4(PKHD1):c.7110-5T>C rs2127552474
NM_138694.4(PKHD1):c.7110-7T>G
NM_138694.4(PKHD1):c.7110-9A>G
NM_138694.4(PKHD1):c.711A>C (p.Ser237=)
NM_138694.4(PKHD1):c.711A>G (p.Ser237=) rs138184195
NM_138694.4(PKHD1):c.7122T>C (p.Phe2374=) rs2127552359
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs) rs1554289495
NM_138694.4(PKHD1):c.7125A>G (p.Val2375=)
NM_138694.4(PKHD1):c.7128C>T (p.Tyr2376=) rs1778144240
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
NM_138694.4(PKHD1):c.7138C>T (p.Gln2380Ter)
NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter) rs757590581
NM_138694.4(PKHD1):c.7158C>T (p.Val2386=) rs1166219544
NM_138694.4(PKHD1):c.7164C>G (p.Gly2388=) rs2127552139
NM_138694.4(PKHD1):c.7171C>G (p.Leu2391Val)
NM_138694.4(PKHD1):c.7171C>T (p.Leu2391=) rs767554968
NM_138694.4(PKHD1):c.7171_7172del (p.Leu2391fs)
NM_138694.4(PKHD1):c.7172T>C (p.Leu2391Pro) rs759314898
NM_138694.4(PKHD1):c.7173G>A (p.Leu2391=)
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=) rs765985090
NM_138694.4(PKHD1):c.7173G>T (p.Leu2391=)
NM_138694.4(PKHD1):c.717C>T (p.Val239=) rs2128228041
NM_138694.4(PKHD1):c.7180A>G (p.Ser2394Gly)
NM_138694.4(PKHD1):c.7182C>T (p.Ser2394=)
NM_138694.4(PKHD1):c.7188A>G (p.Thr2396=)
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs)
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
NM_138694.4(PKHD1):c.7210G>A (p.Ala2404Thr)
NM_138694.4(PKHD1):c.7212C>A (p.Ala2404=)
NM_138694.4(PKHD1):c.7212C>T (p.Ala2404=) rs1778126498
NM_138694.4(PKHD1):c.7215+10T>G rs1583197044
NM_138694.4(PKHD1):c.7215+11T>A
NM_138694.4(PKHD1):c.7215+12T>G
NM_138694.4(PKHD1):c.7215+12del
NM_138694.4(PKHD1):c.7215+12dup
NM_138694.4(PKHD1):c.7215+13G>A
NM_138694.4(PKHD1):c.7215+1G>T
NM_138694.4(PKHD1):c.7216-16A>G
NM_138694.4(PKHD1):c.7216-18A>T
NM_138694.4(PKHD1):c.7216-4A>G rs201220508
NM_138694.4(PKHD1):c.7216-4A>T rs201220508
NM_138694.4(PKHD1):c.7216-6T>C rs2127542020
NM_138694.4(PKHD1):c.7218T>A (p.Ile2406=)
NM_138694.4(PKHD1):c.7227T>C (p.Ser2409=)
NM_138694.4(PKHD1):c.723G>A (p.Lys241=) rs886044700
NM_138694.4(PKHD1):c.7245A>G (p.Lys2415=)
NM_138694.4(PKHD1):c.7248C>T (p.Asn2416=) rs1583184772
NM_138694.4(PKHD1):c.7253_7254del (p.Lys2418fs)
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.7270del (p.Asp2424fs) rs1057516596
NM_138694.4(PKHD1):c.727G>T (p.Ala243Ser) rs773601448
NM_138694.4(PKHD1):c.7286T>C (p.Val2429Ala)
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) rs753450358
NM_138694.4(PKHD1):c.7305T>C (p.Asn2435=) rs1359818748
NM_138694.4(PKHD1):c.7305T>G (p.Asn2435Lys)
NM_138694.4(PKHD1):c.7308T>C (p.Thr2436=)
NM_138694.4(PKHD1):c.7311A>G (p.Ser2437=) rs1777639927
NM_138694.4(PKHD1):c.7317T>A (p.Thr2439=) rs374113485
NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter) rs1582085757
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_138694.4(PKHD1):c.7344C>G (p.Ala2448=) rs1203428569
NM_138694.4(PKHD1):c.7350+12A>C
NM_138694.4(PKHD1):c.7350+13G>A
NM_138694.4(PKHD1):c.7350+14T>G
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7350+2T>A
NM_138694.4(PKHD1):c.7350+5G>A rs1554287798
NM_138694.4(PKHD1):c.7350+7G>A
NM_138694.4(PKHD1):c.7350+8C>T rs2127541163
NM_138694.4(PKHD1):c.7351-12T>C
NM_138694.4(PKHD1):c.7351-14C>G
NM_138694.4(PKHD1):c.7351-15del
NM_138694.4(PKHD1):c.7351-17T>C
NM_138694.4(PKHD1):c.7351-19T>C
NM_138694.4(PKHD1):c.7351-1G>C rs1554282540
NM_138694.4(PKHD1):c.7351-20T>A
NM_138694.4(PKHD1):c.7351-21dup rs768522482
NM_138694.4(PKHD1):c.7351-5C>T
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) rs1037991711
NM_138694.4(PKHD1):c.7389A>G (p.Lys2463=) rs745756086
NM_138694.4(PKHD1):c.7392A>G (p.Arg2464=) rs1775822734
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter) rs1231660958
NM_138694.4(PKHD1):c.7399C>T (p.Leu2467=)
NM_138694.4(PKHD1):c.7417del (p.Thr2473fs)
NM_138694.4(PKHD1):c.741T>C (p.Ser247=)
NM_138694.4(PKHD1):c.7422T>C (p.Phe2474=) rs2151777864
NM_138694.4(PKHD1):c.7429T>A (p.Phe2477Ile) rs2151777825
NM_138694.4(PKHD1):c.7440C>T (p.Ile2480=)
NM_138694.4(PKHD1):c.7443C>T (p.Asn2481=) rs2151777621
NM_138694.4(PKHD1):c.7465del (p.Ser2489fs) rs2151777326
NM_138694.4(PKHD1):c.7472G>A (p.Cys2491Tyr) rs774331743
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter) rs2151777194
NM_138694.4(PKHD1):c.7476C>T (p.Ser2492=)
NM_138694.4(PKHD1):c.7486+18C>T
NM_138694.4(PKHD1):c.7486+1G>T rs1554282419
NM_138694.4(PKHD1):c.7486+41C>A rs982874
NM_138694.4(PKHD1):c.7486+9T>C
NM_138694.4(PKHD1):c.7487-11C>A
NM_138694.4(PKHD1):c.7487-15T>C
NM_138694.4(PKHD1):c.7487-18_7487-17del
NM_138694.4(PKHD1):c.7487-19T>C
NM_138694.4(PKHD1):c.7487-5TA[3] rs1554281310
NM_138694.4(PKHD1):c.7487-6T>C rs2151762235
NM_138694.4(PKHD1):c.7488T>G (p.Gly2496=)
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter) rs1057516768
NM_138694.4(PKHD1):c.7503G>A (p.Lys2501=) rs1775378970
NM_138694.4(PKHD1):c.7506C>A (p.Thr2502=)
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter) rs769645972
NM_138694.4(PKHD1):c.7529_7530del (p.Ser2510fs) rs2151761823
NM_138694.4(PKHD1):c.7542G>A (p.Val2514=)
NM_138694.4(PKHD1):c.7551A>G (p.Pro2517=) rs1775368341
NM_138694.4(PKHD1):c.7551A>T (p.Pro2517=) rs1775368341
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) rs863224528
NM_138694.4(PKHD1):c.7566A>G (p.Ala2522=)
NM_138694.4(PKHD1):c.7570T>C (p.Leu2524=)
NM_138694.4(PKHD1):c.7579T>C (p.Leu2527=) rs1775363248
NM_138694.4(PKHD1):c.7587G>T (p.Gly2529=) rs12210295
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro) rs1775360219
NM_138694.4(PKHD1):c.7594_7597del (p.Ser2532fs)
NM_138694.4(PKHD1):c.7597G>C (p.Gly2533Arg) rs1246936197
NM_138694.4(PKHD1):c.7601A>G (p.Lys2534Arg) rs1775357730
NM_138694.4(PKHD1):c.7602A>G (p.Lys2534=)
NM_138694.4(PKHD1):c.7605C>T (p.Asn2535=)
NM_138694.4(PKHD1):c.7614C>T (p.His2538=)
NM_138694.4(PKHD1):c.7620T>C (p.Leu2540=)
NM_138694.4(PKHD1):c.7623T>C (p.Ala2541=)
NM_138694.4(PKHD1):c.762A>G (p.Leu254=)
NM_138694.4(PKHD1):c.7635C>A (p.Thr2545=)
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) rs779757789
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs) rs1775351921
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys) rs886042259
NM_138694.4(PKHD1):c.7651_7652dup (p.Leu2551fs)
NM_138694.4(PKHD1):c.7656C>T (p.Val2552=)
NM_138694.4(PKHD1):c.7662A>G (p.Ser2554=)
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln) rs369677008
NM_138694.4(PKHD1):c.7673G>C (p.Arg2558Pro)
NM_138694.4(PKHD1):c.7684G>A (p.Gly2562Ser) rs1358906875
NM_138694.4(PKHD1):c.7689T>C (p.Ser2563=) rs1490760433
NM_138694.4(PKHD1):c.7695T>C (p.Cys2565=) rs2151760253
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter) rs1057516751
NM_138694.4(PKHD1):c.769A>C (p.Thr257Pro) rs778755997
NM_138694.4(PKHD1):c.7713del (p.His2572fs) rs1057517078
NM_138694.4(PKHD1):c.7714C>G (p.His2572Asp)
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg) rs768265052
NM_138694.4(PKHD1):c.7725T>G (p.Ser2575=) rs2151759903
NM_138694.4(PKHD1):c.7733+20C>A
NM_138694.4(PKHD1):c.7733+7G>A
NM_138694.4(PKHD1):c.7734-19C>T
NM_138694.4(PKHD1):c.7734-20del
NM_138694.4(PKHD1):c.7734-27_7734-26dup rs201176305
NM_138694.4(PKHD1):c.7734-27dup rs201176305
NM_138694.4(PKHD1):c.7737G>C (p.Ala2579=)
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile) rs748895723
NM_138694.4(PKHD1):c.7755T>C (p.Ser2585=)
NM_138694.4(PKHD1):c.7765_7766delinsT (p.Thr2589fs) rs1773247172
NM_138694.4(PKHD1):c.7767C>G (p.Thr2589=) rs1583054941
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu) rs1160054242
NM_138694.4(PKHD1):c.7776C>T (p.Asp2592=) rs2151688855
NM_138694.4(PKHD1):c.778+10C>G rs1365502451
NM_138694.4(PKHD1):c.778+12del
NM_138694.4(PKHD1):c.778+17C>T
NM_138694.4(PKHD1):c.778+18C>G rs2128227904
NM_138694.4(PKHD1):c.778+18_778+43del
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.778+3A>G
NM_138694.4(PKHD1):c.778+8C>G rs2128227926
NM_138694.4(PKHD1):c.778+9C>T rs755643890
NM_138694.4(PKHD1):c.779-10dup
NM_138694.4(PKHD1):c.779-12del rs5876252
NM_138694.4(PKHD1):c.779-13_779-12del rs5876252
NM_138694.4(PKHD1):c.779-17T>A
NM_138694.4(PKHD1):c.779-17_779-16insC
NM_138694.4(PKHD1):c.779-1G>A
NM_138694.4(PKHD1):c.779-25dup rs5876252
NM_138694.4(PKHD1):c.779-2A>G rs2128224166
NM_138694.4(PKHD1):c.779-7C>T rs749068364
NM_138694.4(PKHD1):c.779-9dup rs886061624
NM_138694.4(PKHD1):c.7791A>C (p.Thr2597=) rs2151688677
NM_138694.4(PKHD1):c.7797T>C (p.Thr2599=) rs2151688609
NM_138694.4(PKHD1):c.7806T>C (p.Tyr2602=) rs753996496
NM_138694.4(PKHD1):c.7811G>A (p.Arg2604His)
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs) rs1583054534
NM_138694.4(PKHD1):c.7814A>C (p.Asp2605Ala) rs1773239517
NM_138694.4(PKHD1):c.7815T>C (p.Asp2605=)
NM_138694.4(PKHD1):c.782T>C (p.Ile261Thr) rs398124493
NM_138694.4(PKHD1):c.7846C>T (p.Leu2616=) rs2151687920
NM_138694.4(PKHD1):c.7849C>T (p.Leu2617Phe) rs746288867
NM_138694.4(PKHD1):c.784T>C (p.Leu262=)
NM_138694.4(PKHD1):c.7863G>A (p.Glu2621=)
NM_138694.4(PKHD1):c.7866C>G (p.Thr2622=) rs752563887
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=) rs752563887
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs) rs1057516690
NM_138694.4(PKHD1):c.7867T>C (p.Tyr2623His)
NM_138694.4(PKHD1):c.7867del (p.Tyr2623fs)
NM_138694.4(PKHD1):c.7869C>T (p.Tyr2623=) rs2151687631
NM_138694.4(PKHD1):c.786A>G (p.Leu262=) rs570064466
NM_138694.4(PKHD1):c.7872A>G (p.Ser2624=)
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
NM_138694.4(PKHD1):c.7880_7881del (p.Gln2626_Ser2627insTer)
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs) rs1583053996
NM_138694.4(PKHD1):c.788C>T (p.Ser263Phe)
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs) rs1045491786
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer) rs1057516607
NM_138694.4(PKHD1):c.790G>A (p.Val264Met) rs1809647915
NM_138694.4(PKHD1):c.7911+11G>A
NM_138694.4(PKHD1):c.7911+7C>G rs1380750885
NM_138694.4(PKHD1):c.7911+7del rs1773215949
NM_138694.4(PKHD1):c.7912-12T>C
NM_138694.4(PKHD1):c.7912-13C>T
NM_138694.4(PKHD1):c.7912-1G>A rs1160209891
NM_138694.4(PKHD1):c.7912-1G>C rs1160209891
NM_138694.4(PKHD1):c.7912-2A>G rs1554271235
NM_138694.4(PKHD1):c.7912-5T>C
NM_138694.4(PKHD1):c.7912-8A>G rs1771514597
NM_138694.4(PKHD1):c.7917A>C (p.Ser2639=)
NM_138694.4(PKHD1):c.7917A>T (p.Ser2639=)
NM_138694.4(PKHD1):c.7929C>T (p.Asp2643=)
NM_138694.4(PKHD1):c.792G>C (p.Val264=)
NM_138694.4(PKHD1):c.7944del (p.Asn2649fs)
NM_138694.4(PKHD1):c.7947T>C (p.Asn2649=)
NM_138694.4(PKHD1):c.7950C>G (p.Tyr2650Ter)
NM_138694.4(PKHD1):c.7950C>T (p.Tyr2650=)
NM_138694.4(PKHD1):c.7957C>T (p.Leu2653=) rs556212333
NM_138694.4(PKHD1):c.7959G>C (p.Leu2653=) rs2151628824
NM_138694.4(PKHD1):c.795T>C (p.Phe265=)
NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn)
NM_138694.4(PKHD1):c.7964A>G (p.His2655Arg)
NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter) rs1482563973
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) rs1583013487
NM_138694.4(PKHD1):c.7985_7986del (p.Pro2662fs)
NM_138694.4(PKHD1):c.7986T>G (p.Pro2662=) rs1583013411
NM_138694.4(PKHD1):c.7992C>A (p.Ile2664=)
NM_138694.4(PKHD1):c.7992C>T (p.Ile2664=) rs2151628547
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
NM_138694.4(PKHD1):c.7995C>A (p.Leu2665=)
NM_138694.4(PKHD1):c.7996C>T (p.Leu2666=) rs1289882278
NM_138694.4(PKHD1):c.7998A>C (p.Leu2666=)
NM_138694.4(PKHD1):c.7999A>C (p.Arg2667=) rs2151628433
NM_138694.4(PKHD1):c.8007G>T (p.Gly2669=)
NM_138694.4(PKHD1):c.8011C>A (p.Arg2671=) rs137852947
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro) rs778592523
NM_138694.4(PKHD1):c.8012G>T (p.Arg2671Leu) rs778592523
NM_138694.4(PKHD1):c.8013A>T (p.Arg2671=)
NM_138694.4(PKHD1):c.8019T>C (p.Gly2673=) rs753565361
NM_138694.4(PKHD1):c.8023T>A (p.Ser2675Thr)
NM_138694.4(PKHD1):c.8025T>A (p.Ser2675=)
NM_138694.4(PKHD1):c.8037T>G (p.Leu2679=) rs2151627998
NM_138694.4(PKHD1):c.8040A>G (p.Pro2680=)
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter) rs1057516490
NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly)
NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser)
NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu) rs768660365
NM_138694.4(PKHD1):c.8079T>C (p.Asn2693=) rs1168857318
NM_138694.4(PKHD1):c.8088G>A (p.Leu2696=)
NM_138694.4(PKHD1):c.8088G>C (p.Leu2696=) rs2151627500
NM_138694.4(PKHD1):c.8090G>C (p.Arg2697Thr)
NM_138694.4(PKHD1):c.8091G>A (p.Arg2697=) rs2151627451
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) rs1771471295
NM_138694.4(PKHD1):c.8102_8107+8del rs2151627285
NM_138694.4(PKHD1):c.8104C>T (p.Leu2702=) rs2151627328
NM_138694.4(PKHD1):c.8107+13T>C
NM_138694.4(PKHD1):c.8107+19G>A
NM_138694.4(PKHD1):c.8107+1G>C rs1554270880
NM_138694.4(PKHD1):c.8107+4555A>G rs207466959
NM_138694.4(PKHD1):c.8107+7A>G
NM_138694.4(PKHD1):c.8107+9C>T rs1209995016
NM_138694.4(PKHD1):c.8108-17T>C
NM_138694.4(PKHD1):c.8108-20T>C
NM_138694.4(PKHD1):c.8108-6A>G rs2151550155
NM_138694.4(PKHD1):c.8108-8G>T
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8110T>A (p.Ser2704Thr)
NM_138694.4(PKHD1):c.8112A>G (p.Ser2704=) rs749153516
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs) rs774050795
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter) rs1473182306
NM_138694.4(PKHD1):c.8128C>T (p.Gln2710Ter) rs2151549840
NM_138694.4(PKHD1):c.813T>G (p.Leu271=)
NM_138694.4(PKHD1):c.8142G>C (p.Arg2714=)
NM_138694.4(PKHD1):c.8145G>T (p.Val2715=) rs1431478120
NM_138694.4(PKHD1):c.8148G>A (p.Lys2716=)
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8160C>T (p.Pro2720=) rs2151549336
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs) rs1057516775
NM_138694.4(PKHD1):c.8163A>G (p.Pro2721=) rs764470314
NM_138694.4(PKHD1):c.8173+10A>G rs2151549146
NM_138694.4(PKHD1):c.8173+16C>T
NM_138694.4(PKHD1):c.8173+17G>A
NM_138694.4(PKHD1):c.8173+2T>G rs2151549200
NM_138694.4(PKHD1):c.8173+8T>C
NM_138694.4(PKHD1):c.8174-10del rs566540835
NM_138694.4(PKHD1):c.8174-13T>C
NM_138694.4(PKHD1):c.8174-16T>G
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8174-19dup
NM_138694.4(PKHD1):c.8174-20A>G
NM_138694.4(PKHD1):c.8174-2A>G
NM_138694.4(PKHD1):c.8174-2A>T rs1582925274
NM_138694.4(PKHD1):c.8174-7T>C
NM_138694.4(PKHD1):c.8174-9A>G rs1216410028
NM_138694.4(PKHD1):c.8181C>T (p.Thr2727=)
NM_138694.4(PKHD1):c.8187C>G (p.Ala2729=)
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter) rs2151512212
NM_138694.4(PKHD1):c.8196A>G (p.Ser2732=) rs773285582
NM_138694.4(PKHD1):c.8202A>G (p.Leu2734=)
NM_138694.4(PKHD1):c.8205A>G (p.Lys2735=)
NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg)
NM_138694.4(PKHD1):c.8207G>C (p.Trp2736Ser) rs1562410452
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter) rs2151512054
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs) rs2151512076
NM_138694.4(PKHD1):c.820dup (p.Arg274fs) rs1582064844
NM_138694.4(PKHD1):c.8217T>C (p.Pro2739=)
NM_138694.4(PKHD1):c.821_822del (p.Arg274fs)
NM_138694.4(PKHD1):c.8223A>C (p.Thr2741=) rs749978658
NM_138694.4(PKHD1):c.8223A>G (p.Thr2741=) rs749978658
NM_138694.4(PKHD1):c.8223A>T (p.Thr2741=)
NM_138694.4(PKHD1):c.822A>G (p.Arg274=) rs2128224054
NM_138694.4(PKHD1):c.8232T>A (p.Gly2744=) rs2151511754
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8244C>T (p.Gly2748=)
NM_138694.4(PKHD1):c.8253A>T (p.Gly2751=) rs2151511551
NM_138694.4(PKHD1):c.8258A>G (p.Asn2753Ser) rs749313015
NM_138694.4(PKHD1):c.8265C>A (p.Thr2755=) rs1582924494
NM_138694.4(PKHD1):c.8265C>G (p.Thr2755=)
NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg) rs1554263087
NM_138694.4(PKHD1):c.8274C>T (p.Gly2758=) rs368178645
NM_138694.4(PKHD1):c.8277T>G (p.Pro2759=)
NM_138694.4(PKHD1):c.8281G>T (p.Asp2761Tyr) rs1554263080
NM_138694.4(PKHD1):c.8282A>T (p.Asp2761Val) rs2151511198
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8289del (p.Leu2764fs) rs1768123584
NM_138694.4(PKHD1):c.828C>T (p.Asn276=)
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser) rs764600547
NM_138694.4(PKHD1):c.8302+16C>G
NM_138694.4(PKHD1):c.8302+19G>A
NM_138694.4(PKHD1):c.8303-1G>A rs786204241
NM_138694.4(PKHD1):c.8303-2A>G rs1554243821
NM_138694.4(PKHD1):c.8303-4A>G rs2151263287
NM_138694.4(PKHD1):c.8303-5C>A
NM_138694.4(PKHD1):c.8303-5C>T rs2151263317
NM_138694.4(PKHD1):c.8303-9C>T
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala) rs1793719203
NM_138694.4(PKHD1):c.8332C>T (p.Pro2778Ser)
NM_138694.4(PKHD1):c.8334A>G (p.Pro2778=)
NM_138694.4(PKHD1):c.8345G>A (p.Gly2782Glu)
NM_138694.4(PKHD1):c.8349G>C (p.Leu2783=)
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
NM_138694.4(PKHD1):c.8352T>C (p.Tyr2784=)
NM_138694.4(PKHD1):c.8361G>A (p.Gly2787=) rs1457123441
NM_138694.4(PKHD1):c.8363C>G (p.Thr2788Ser) rs2151262384
NM_138694.4(PKHD1):c.8378T>C (p.Val2793Ala) rs2151262174
NM_138694.4(PKHD1):c.8379G>A (p.Val2793=)
NM_138694.4(PKHD1):c.8393T>G (p.Val2798Gly) rs1554243589
NM_138694.4(PKHD1):c.8394T>C (p.Val2798=) rs897476178
NM_138694.4(PKHD1):c.8395C>T (p.Leu2799=)
NM_138694.4(PKHD1):c.8400T>C (p.Ser2800=) rs2151261758
NM_138694.4(PKHD1):c.8406A>G (p.Ala2802=) rs2151261646
NM_138694.4(PKHD1):c.8409C>A (p.Cys2803Ter)
NM_138694.4(PKHD1):c.840A>C (p.Thr280=) rs1461472339
NM_138694.4(PKHD1):c.840A>G (p.Thr280=) rs1461472339
NM_138694.4(PKHD1):c.840del (p.Gly281fs)
NM_138694.4(PKHD1):c.8412G>A (p.Met2804Ile) rs1363630467
NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu) rs2151261317
NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu) rs1809634616
NM_138694.4(PKHD1):c.843A>G (p.Gly281=)
NM_138694.4(PKHD1):c.8440+11G>T
NM_138694.4(PKHD1):c.8440+14C>T
NM_138694.4(PKHD1):c.8440+1G>A rs1793689014
NM_138694.4(PKHD1):c.8440+20T>A
NM_138694.4(PKHD1):c.8440+9A>G
NM_138694.4(PKHD1):c.8441-10T>C rs1255643305
NM_138694.4(PKHD1):c.8441-12del
NM_138694.4(PKHD1):c.8441-17C>T
NM_138694.4(PKHD1):c.8441-18A>G
NM_138694.4(PKHD1):c.8441-19T>C
NM_138694.4(PKHD1):c.8441-1G>A
NM_138694.4(PKHD1):c.8441-5A>G rs922193595
NM_138694.4(PKHD1):c.8441-6A>G
NM_138694.4(PKHD1):c.8445T>G (p.Thr2815=)
NM_138694.4(PKHD1):c.8453del (p.Asn2818fs) rs1790945437
NM_138694.4(PKHD1):c.8470C>G (p.Gln2824Glu)
NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile)
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8490T>A (p.Leu2830=) rs746539989
NM_138694.4(PKHD1):c.8490T>C (p.Leu2830=)
NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro) rs1790936941
NM_138694.4(PKHD1):c.8499A>C (p.Ser2833=)
NM_138694.4(PKHD1):c.8508C>T (p.Val2836=) rs1458400313
NM_138694.4(PKHD1):c.8514T>C (p.Cys2838=)
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter) rs2128223990
NM_138694.4(PKHD1):c.8541C>T (p.Asp2847=)
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs) rs746625317
NM_138694.4(PKHD1):c.8544A>G (p.Pro2848=) rs1438081367
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8553del (p.Ile2851fs)
NM_138694.4(PKHD1):c.8554+10T>A
NM_138694.4(PKHD1):c.8554+16A>G
NM_138694.4(PKHD1):c.8554+20T>G
NM_138694.4(PKHD1):c.8554+7G>A rs2151159723
NM_138694.4(PKHD1):c.8554+8T>C
NM_138694.4(PKHD1):c.8554+9A>G rs764785825
NM_138694.4(PKHD1):c.8555-12T>C
NM_138694.4(PKHD1):c.8555-14C>T
NM_138694.4(PKHD1):c.8555-16C>A
NM_138694.4(PKHD1):c.8555-19T>A
NM_138694.4(PKHD1):c.8555-19T>C
NM_138694.4(PKHD1):c.8555-1G>A
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_138694.4(PKHD1):c.8555-8A>G
NM_138694.4(PKHD1):c.8556G>A (p.Gly2852=)
NM_138694.4(PKHD1):c.8559T>G (p.Val2853=)
NM_138694.4(PKHD1):c.8562T>G (p.Tyr2854Ter)
NM_138694.4(PKHD1):c.8570T>C (p.Val2857Ala) rs1790366459
NM_138694.4(PKHD1):c.8580C>T (p.Tyr2860=) rs1582601662
NM_138694.4(PKHD1):c.8589T>C (p.Tyr2863=)
NM_138694.4(PKHD1):c.8590C>G (p.Pro2864Ala)
NM_138694.4(PKHD1):c.8598C>T (p.Asn2866=) rs893003949
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8604_8605del (p.Trp2868fs)
NM_138694.4(PKHD1):c.8607A>C (p.Thr2869=)
NM_138694.4(PKHD1):c.8607A>T (p.Thr2869=) rs2151138145
NM_138694.4(PKHD1):c.8635A>T (p.Asn2879Tyr) rs2151137736
NM_138694.4(PKHD1):c.8642+19T>G
NM_138694.4(PKHD1):c.8643-16dup
NM_138694.4(PKHD1):c.8643-17T>C
NM_138694.4(PKHD1):c.8643-7G>A
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8652A>G (p.Val2884=)
NM_138694.4(PKHD1):c.865C>T (p.Gln289Ter) rs2128223979
NM_138694.4(PKHD1):c.8667T>C (p.Asp2889=)
NM_138694.4(PKHD1):c.8668del (p.Trp2890fs) rs2151021274
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp) rs886061615
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu) rs1786704837
NM_138694.4(PKHD1):c.8688A>T (p.Ile2896=)
NM_138694.4(PKHD1):c.8694T>C (p.Leu2898=)
NM_138694.4(PKHD1):c.8697C>T (p.Ser2899=) rs1363597984
NM_138694.4(PKHD1):c.8700C>G (p.Ser2900=)
NM_138694.4(PKHD1):c.8700C>T (p.Ser2900=)
NM_138694.4(PKHD1):c.8709T>C (p.Tyr2903=) rs1016868995
NM_138694.4(PKHD1):c.8712G>A (p.Glu2904=)
NM_138694.4(PKHD1):c.8724A>G (p.Ala2908=)
NM_138694.4(PKHD1):c.8731del (p.Leu2911fs) rs2151020773
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs) rs1582479341
NM_138694.4(PKHD1):c.8741AAG[3] (p.Glu2915dup) rs1554221417
NM_138694.4(PKHD1):c.8751G>A (p.Lys2917=)
NM_138694.4(PKHD1):c.8754C>G (p.Gly2918=)
NM_138694.4(PKHD1):c.8757C>T (p.His2919=) rs2151020553
NM_138694.4(PKHD1):c.8760T>C (p.His2920=) rs2151020510
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.8778G>A (p.Arg2926=) rs754005242
NM_138694.4(PKHD1):c.8781C>G (p.Leu2927=) rs2151020320
NM_138694.4(PKHD1):c.8782A>T (p.Lys2928Ter) rs2151020303
NM_138694.4(PKHD1):c.8789G>A (p.Arg2930Gln)
NM_138694.4(PKHD1):c.8790G>T (p.Arg2930=)
NM_138694.4(PKHD1):c.8797+16G>A
NM_138694.4(PKHD1):c.8797+1G>A rs2151020151
NM_138694.4(PKHD1):c.8797+20G>T rs766264473
NM_138694.4(PKHD1):c.8798-15C>A
NM_138694.4(PKHD1):c.8798-17A>G
NM_138694.4(PKHD1):c.8798-19A>G
NM_138694.4(PKHD1):c.8798-19A>T
NM_138694.4(PKHD1):c.8798-2A>T rs1582470309
NM_138694.4(PKHD1):c.8798-6_8798-5delinsTT rs2151012388
NM_138694.4(PKHD1):c.8798-7G>A rs1554220805
NM_138694.4(PKHD1):c.8798-8T>C
NM_138694.4(PKHD1):c.8799_8801dup (p.Gly2933_Ser2934insArg) rs781387046
NM_138694.4(PKHD1):c.880+1G>A rs1582064292
NM_138694.4(PKHD1):c.880+7A>G rs2128223925
NM_138694.4(PKHD1):c.8807A>G (p.His2936Arg)
NM_138694.4(PKHD1):c.8808T>C (p.His2936=) rs2151012284
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.881-20A>G
NM_138694.4(PKHD1):c.881-4T>G
NM_138694.4(PKHD1):c.8811C>A (p.Val2937=) rs752973353
NM_138694.4(PKHD1):c.8820T>C (p.Asp2940=) rs766377653
NM_138694.4(PKHD1):c.8829dup (p.Ile2944fs) rs2151011995
NM_138694.4(PKHD1):c.8832T>A (p.Ile2944=)
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs) rs1057517244
NM_138694.4(PKHD1):c.8835T>G (p.Arg2945=)
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser) rs1582469785
NM_138694.4(PKHD1):c.8837del (p.Leu2946fs)
NM_138694.4(PKHD1):c.8841T>C (p.Ala2947=)
NM_138694.4(PKHD1):c.8847G>A (p.Glu2949=)
NM_138694.4(PKHD1):c.8850T>C (p.Val2950=) rs1786416361
NM_138694.4(PKHD1):c.8854C>T (p.Leu2952=)
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter) rs1229564017
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu) rs1582469538
NM_138694.4(PKHD1):c.8868T>C (p.Asn2956=)
NM_138694.4(PKHD1):c.8870_8874del (p.Ile2957fs)
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
NM_138694.4(PKHD1):c.8885A>G (p.Asp2962Gly) rs1554220680
NM_138694.4(PKHD1):c.8889A>C (p.Val2963=)
NM_138694.4(PKHD1):c.888A>G (p.Pro296=) rs76012218
NM_138694.4(PKHD1):c.8892A>G (p.Ser2964=)
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.8894G>A (p.Cys2965Tyr) rs1786406368
NM_138694.4(PKHD1):c.8895T>C (p.Cys2965=) rs748369784
NM_138694.4(PKHD1):c.889T>C (p.Cys297Arg) rs1231976944
NM_138694.4(PKHD1):c.8905C>T (p.Leu2969=) rs1417169945
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs) rs1473686155
NM_138694.4(PKHD1):c.8912del (p.Val2971fs) rs2151011017
NM_138694.4(PKHD1):c.8916G>A (p.Gly2972=)
NM_138694.4(PKHD1):c.8916dup (p.Ser2973fs)
NM_138694.4(PKHD1):c.8919C>G (p.Ser2973=)
NM_138694.4(PKHD1):c.8935C>A (p.Arg2979=) rs765020336
NM_138694.4(PKHD1):c.893A>G (p.Asp298Gly)
NM_138694.4(PKHD1):c.8940A>G (p.Glu2980=) rs1582468826
NM_138694.4(PKHD1):c.8950+17G>C
NM_138694.4(PKHD1):c.8950+1G>A
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.8950+20A>G
NM_138694.4(PKHD1):c.8950+9A>C rs1390628353
NM_138694.4(PKHD1):c.8951-12A>G
NM_138694.4(PKHD1):c.8951-12A>T
NM_138694.4(PKHD1):c.8951-17C>T
NM_138694.4(PKHD1):c.8951-4A>G
NM_138694.4(PKHD1):c.8951-4A>T rs2150987649
NM_138694.4(PKHD1):c.8951-5del rs2150987670
NM_138694.4(PKHD1):c.8951-7T>G rs760257250
NM_138694.4(PKHD1):c.8951-9T>G rs2150987691
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201
NM_138694.4(PKHD1):c.8955C>A (p.Val2985=) rs1324020809
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs) rs1057517387
NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His)
NM_138694.4(PKHD1):c.8964T>G (p.Leu2988=) rs2150987538
NM_138694.4(PKHD1):c.8970T>C (p.Asn2990=) rs1293255485
NM_138694.4(PKHD1):c.897T>C (p.Ile299=)
NM_138694.4(PKHD1):c.8980C>T (p.Gln2994Ter) rs2150987482
NM_138694.4(PKHD1):c.8989G>A (p.Gly2997Arg) rs886061614
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.9000G>A (p.Leu3000=)
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter) rs775628123
NM_138694.4(PKHD1):c.9003C>T (p.Tyr3001=) rs775628123
NM_138694.4(PKHD1):c.9027G>A (p.Val3009=)
NM_138694.4(PKHD1):c.9027G>T (p.Val3009=) rs1785566962
NM_138694.4(PKHD1):c.9033A>G (p.Ala3011=)
NM_138694.4(PKHD1):c.9038_9039delinsAA (p.Ser3013Ter)
NM_138694.4(PKHD1):c.9044T>G (p.Ile3015Ser) rs2150987139
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) rs779418460
NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe) rs137852945
NM_138694.4(PKHD1):c.9058C>T (p.Leu3020=) rs779074962
NM_138694.4(PKHD1):c.9060G>A (p.Leu3020=) rs2150987070
NM_138694.4(PKHD1):c.9066G>A (p.Gln3022=) rs2150987009
NM_138694.4(PKHD1):c.9069C>T (p.Ser3023=) rs1785560641
NM_138694.4(PKHD1):c.9070dup (p.Cys3024fs) rs2150986957
NM_138694.4(PKHD1):c.9072T>C (p.Cys3024=)
NM_138694.4(PKHD1):c.9081_9082dup (p.Ile3028fs)
NM_138694.4(PKHD1):c.9090A>G (p.Ala3030=) rs2150986813
NM_138694.4(PKHD1):c.9096C>A (p.Ala3032=)
NM_138694.4(PKHD1):c.9096C>T (p.Ala3032=)
NM_138694.4(PKHD1):c.90T>C (p.Gly30=) rs1812294982
NM_138694.4(PKHD1):c.9112T>C (p.Leu3038=)
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer) rs1554218926
NM_138694.4(PKHD1):c.9141T>C (p.Ala3047=) rs2150986490
NM_138694.4(PKHD1):c.9144C>G (p.Gly3048=) rs772138645
NM_138694.4(PKHD1):c.9149del (p.Gly3050fs) rs2150986366
NM_138694.4(PKHD1):c.9153A>C (p.Ile3051=)
NM_138694.4(PKHD1):c.9154G>C (p.Asp3052His) rs765526
NM_138694.4(PKHD1):c.9159A>G (p.Leu3053=) rs370346770
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys) rs1060501355
NM_138694.4(PKHD1):c.9168G>A (p.Gln3056=)
NM_138694.4(PKHD1):c.9171C>T (p.Ala3057=)
NM_138694.4(PKHD1):c.9177T>C (p.Thr3059=)
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs) rs1582441668
NM_138694.4(PKHD1):c.9183T>C (p.Thr3061=) rs2150986075
NM_138694.4(PKHD1):c.9183_9186delinsATTAGTGACATCAG (p.Asn3062fs) rs2150986043
NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr)
NM_138694.4(PKHD1):c.9189C>T (p.Asn3063=)
NM_138694.4(PKHD1):c.9192T>C (p.Leu3064=) rs781061156
NM_138694.4(PKHD1):c.9201G>A (p.Leu3067=)
NM_138694.4(PKHD1):c.9207A>C (p.Thr3069=)
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.9210_9223del (p.Gln3070fs) rs2150985744
NM_138694.4(PKHD1):c.9211C>G (p.Pro3071Ala) rs1785533041
NM_138694.4(PKHD1):c.9216G>T (p.Ala3072=)
NM_138694.4(PKHD1):c.9219G>A (p.Trp3073Ter) rs761075492
NM_138694.4(PKHD1):c.924G>A (p.Glu308=) rs1181071222
NM_138694.4(PKHD1):c.9253C>G (p.Gln3085Glu) rs1164973591
NM_138694.4(PKHD1):c.9267C>T (p.Ile3089=) rs1785519804
NM_138694.4(PKHD1):c.9268A>G (p.Asn3090Asp) rs1785519408
NM_138694.4(PKHD1):c.9269A>G (p.Asn3090Ser) rs1785518946
NM_138694.4(PKHD1):c.9273C>A (p.Leu3091=)
NM_138694.4(PKHD1):c.9276T>C (p.His3092=)
NM_138694.4(PKHD1):c.9285T>A (p.Val3095=) rs1785514970
NM_138694.4(PKHD1):c.9285T>C (p.Val3095=)
NM_138694.4(PKHD1):c.9291A>G (p.Ala3097=)
NM_138694.4(PKHD1):c.9294A>C (p.Gly3098=)
NM_138694.4(PKHD1):c.9299A>G (p.Glu3100Gly) rs749998868
NM_138694.4(PKHD1):c.9302_9303del (p.Arg3101fs)
NM_138694.4(PKHD1):c.9303A>G (p.Arg3101=) rs1785510980
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9315C>T (p.His3105=)
NM_138694.4(PKHD1):c.9318C>T (p.Ile3106=)
NM_138694.4(PKHD1):c.9319C>A (p.Arg3107=)
NM_138694.4(PKHD1):c.9327C>G (p.His3109Gln) rs1160858819
NM_138694.4(PKHD1):c.9329dup (p.Cys3111fs)
NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile)
NM_138694.4(PKHD1):c.9339T>A (p.Ser3113=)
NM_138694.4(PKHD1):c.9348del (p.Leu3117fs) rs1785501068
NM_138694.4(PKHD1):c.934C>A (p.Arg312=) rs372340268
NM_138694.4(PKHD1):c.9368C>T (p.Ala3123Val)
NM_138694.4(PKHD1):c.9369G>A (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.936G>T (p.Arg312=) rs755140707
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro) rs373241537
NM_138694.4(PKHD1):c.9375A>G (p.Ser3125=) rs2150984388
NM_138694.4(PKHD1):c.9384T>C (p.His3128=) rs2150984309
NM_138694.4(PKHD1):c.9386del (p.Gly3129fs) rs1785493309
NM_138694.4(PKHD1):c.9396C>G (p.Leu3132=) rs2150984241
NM_138694.4(PKHD1):c.9396C>T (p.Leu3132=)
NM_138694.4(PKHD1):c.939T>G (p.Ala313=) rs1399301994
NM_138694.4(PKHD1):c.9400A>G (p.Lys3134Glu) rs2150984204
NM_138694.4(PKHD1):c.9408T>C (p.Ser3136=) rs1785490409
NM_138694.4(PKHD1):c.9411A>T (p.Gly3137=) rs755275674
NM_138694.4(PKHD1):c.9429A>G (p.Arg3143=)
NM_138694.4(PKHD1):c.9432C>A (p.Ile3144=)
NM_138694.4(PKHD1):c.9448T>C (p.Phe3150Leu) rs2150983802
NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn) rs2150983772
NM_138694.4(PKHD1):c.9462C>T (p.Asp3154=) rs1173000316
NM_138694.4(PKHD1):c.9469_9470delinsAA (p.Ala3157Asn) rs878855204
NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs) rs1057516413
NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr)
NM_138694.4(PKHD1):c.9507C>T (p.Asn3169=) rs1785472118
NM_138694.4(PKHD1):c.9513T>C (p.Thr3171=)
NM_138694.4(PKHD1):c.951T>C (p.Asp317=) rs1809305983
NM_138694.4(PKHD1):c.9522C>T (p.Asp3174=)
NM_138694.4(PKHD1):c.9529A>G (p.Ile3177Val)
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs) rs1554218519
NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys)
NM_138694.4(PKHD1):c.9537T>C (p.Leu3179=) rs2150983195
NM_138694.4(PKHD1):c.9543A>G (p.Ala3181=) rs2150983169
NM_138694.4(PKHD1):c.9544G>A (p.Val3182Ile) rs575058604
NM_138694.4(PKHD1):c.9546A>G (p.Val3182=) rs758820099
NM_138694.4(PKHD1):c.9549G>A (p.Val3183=) rs750639527
NM_138694.4(PKHD1):c.954G>A (p.Val318=)
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9552T>G (p.Tyr3184Ter)
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9567A>T (p.Pro3189=)
NM_138694.4(PKHD1):c.957G>A (p.Arg319=)
NM_138694.4(PKHD1):c.9582A>G (p.Lys3194=)
NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del) rs1554218479
NM_138694.4(PKHD1):c.9585A>C (p.Lys3195Asn) rs1417442108
NM_138694.4(PKHD1):c.9588G>A (p.Val3196=) rs2150982682
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter) rs2150982651
NM_138694.4(PKHD1):c.9598C>T (p.Leu3200Phe)
NM_138694.4(PKHD1):c.9603G>A (p.Arg3201=) rs940043076
NM_138694.4(PKHD1):c.9613A>C (p.Ile3205Leu)
NM_138694.4(PKHD1):c.9615del (p.Ile3205fs)
NM_138694.4(PKHD1):c.961A>G (p.Thr321Ala) rs2128221798
NM_138694.4(PKHD1):c.9621C>T (p.Ala3207=) rs1785450695
NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg)
NM_138694.4(PKHD1):c.9633T>C (p.Ser3211=) rs2150982230
NM_138694.4(PKHD1):c.9636T>C (p.Phe3212=) rs1269059408
NM_138694.4(PKHD1):c.9651C>T (p.Asp3217=)
NM_138694.4(PKHD1):c.9663G>T (p.Pro3221=) rs371508721
NM_138694.4(PKHD1):c.9669A>C (p.Ser3223=) rs2150981986
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9696T>G (p.Ala3232=)
NM_138694.4(PKHD1):c.9699del (p.Ser3234fs) rs1785437689
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9711A>G (p.Arg3237=) rs2150981690
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.9723dup (p.Gly3242fs) rs1582436832
NM_138694.4(PKHD1):c.9725G>C (p.Gly3242Ala) rs886044327
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540
NM_138694.4(PKHD1):c.9735G>A (p.Trp3245Ter)
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs) rs751754608
NM_138694.4(PKHD1):c.9744C>T (p.Phe3248=)
NM_138694.4(PKHD1):c.9747C>A (p.Thr3249=)
NM_138694.4(PKHD1):c.9756A>G (p.Pro3252=)
NM_138694.4(PKHD1):c.976+13C>T
NM_138694.4(PKHD1):c.976+14C>T
NM_138694.4(PKHD1):c.976+18G>A
NM_138694.4(PKHD1):c.976+18G>T
NM_138694.4(PKHD1):c.976+19C>T
NM_138694.4(PKHD1):c.976+9G>A
NM_138694.4(PKHD1):c.977-11A>C
NM_138694.4(PKHD1):c.977-11A>G
NM_138694.4(PKHD1):c.977-17A>G
NM_138694.4(PKHD1):c.977-18G>A
NM_138694.4(PKHD1):c.977-18G>C
NM_138694.4(PKHD1):c.977-19C>T
NM_138694.4(PKHD1):c.977-4dup
NM_138694.4(PKHD1):c.9774G>A (p.Glu3258=)
NM_138694.4(PKHD1):c.9777A>G (p.Pro3259=) rs1008018928
NM_138694.4(PKHD1):c.9777A>T (p.Pro3259=) rs1008018928
NM_138694.4(PKHD1):c.9779G>A (p.Trp3260Ter)
NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter)
NM_138694.4(PKHD1):c.9783C>T (p.His3261=)
NM_138694.4(PKHD1):c.9789G>A (p.Val3263=) rs2150980928
NM_138694.4(PKHD1):c.9801T>C (p.His3267=)
NM_138694.4(PKHD1):c.9804A>T (p.Ser3268=)
NM_138694.4(PKHD1):c.9817A>C (p.Met3273Leu) rs1562221107
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)
NM_138694.4(PKHD1):c.9829+13A>G
NM_138694.4(PKHD1):c.9829+15T>C
NM_138694.4(PKHD1):c.9829+1G>A rs1273202231
NM_138694.4(PKHD1):c.9829+1dup
NM_138694.4(PKHD1):c.9829+20C>A
NM_138694.4(PKHD1):c.9829+20C>T
NM_138694.4(PKHD1):c.9829+8G>A
NM_138694.4(PKHD1):c.9829+9T>C
NM_138694.4(PKHD1):c.982C>A (p.Arg328=)
NM_138694.4(PKHD1):c.9830-15T>C
NM_138694.4(PKHD1):c.9830-18A>G
NM_138694.4(PKHD1):c.9830-2A>C rs890681861
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9834T>C (p.Val3278=) rs2150975041
NM_138694.4(PKHD1):c.9845del (p.Ser3282fs)
NM_138694.4(PKHD1):c.9846T>C (p.Ser3282=) rs1354756451
NM_138694.4(PKHD1):c.9849T>C (p.Phe3283=) rs773647607
NM_138694.4(PKHD1):c.9852G>A (p.Val3284=)
NM_138694.4(PKHD1):c.9856A>T (p.Ser3286Cys) rs770299635
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter) rs1057517357
NM_138694.4(PKHD1):c.9867C>T (p.Ser3289=) rs747103964
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_138694.4(PKHD1):c.9874C>T (p.Leu3292=) rs2150974520
NM_138694.4(PKHD1):c.9876G>C (p.Leu3292=)
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356
NM_138694.4(PKHD1):c.987G>C (p.Gly329=) rs2128219124
NM_138694.4(PKHD1):c.9894A>C (p.Pro3298=)
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs) rs1785246943
NM_138694.4(PKHD1):c.9921C>T (p.His3307=) rs2150974061
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg) rs1307732644
NM_138694.4(PKHD1):c.9927A>C (p.Ile3309=)
NM_138694.4(PKHD1):c.9930A>G (p.Thr3310=)
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
NM_138694.4(PKHD1):c.993T>G (p.Leu331=) rs2128219118
NM_138694.4(PKHD1):c.9942C>G (p.Thr3314=) rs773916989
NM_138694.4(PKHD1):c.9945del (p.Met3316fs)
NM_138694.4(PKHD1):c.9956_9957del (p.Ile3319fs)
NM_138694.4(PKHD1):c.9963T>C (p.Asp3321=)
NM_138694.4(PKHD1):c.9973T>C (p.Phe3325Leu) rs199924729
NM_138694.4(PKHD1):c.9987A>C (p.Ser3329=) rs760987550
NM_138694.4(PKHD1):c.9987A>G (p.Ser3329=)
NM_138694.4(PKHD1):c.9998+10T>C rs2150973480
NM_138694.4(PKHD1):c.9998+12A>G
NM_138694.4(PKHD1):c.9998+13G>C
NM_138694.4(PKHD1):c.9998+1G>A
NM_138694.4(PKHD1):c.9998+1G>T rs1554217691
NM_138694.4(PKHD1):c.9998+9T>G
NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys) rs1057524563
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563
NM_138694.4(PKHD1):c.9999-13A>G rs2150963083
NM_138694.4(PKHD1):c.9999-18T>A
NM_138694.4(PKHD1):c.9999-1G>A rs2150963039
NM_138694.4(PKHD1):c.9999-7T>G
NM_138694.4(PKHD1):c.999A>G (p.Glu333=) rs1296198049
NM_138694.4(PKHD1):c.99A>G (p.Ala33=)
NM_138694.4(PKHD1):c.9C>G (p.Ala3=)
NM_138694.4(PKHD1):c.9C>T (p.Ala3=)

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.