ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 705
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HGVS dbSNP
NC_000006.11:g.(?_51497343)_(51512936_?)del
NC_000006.11:g.(?_51824658)_(51875267_?)del
NM_138694.3(PKHD1):c.11174_11175-4798del
NM_138694.3(PKHD1):c.8108-?_8173+?del
NM_138694.4(PKHD1):c.*1005C>T rs41273716
NM_138694.4(PKHD1):c.*1023G>A rs185962129
NM_138694.4(PKHD1):c.*1083G>T rs376414551
NM_138694.4(PKHD1):c.*1154A>G rs548889112
NM_138694.4(PKHD1):c.*1217G>A rs886061605
NM_138694.4(PKHD1):c.*1257G>A rs886061604
NM_138694.4(PKHD1):c.*1335T>C rs886061603
NM_138694.4(PKHD1):c.*1376A>G rs886061602
NM_138694.4(PKHD1):c.*1381G>C rs573219087
NM_138694.4(PKHD1):c.*1492_*1497del rs886061601
NM_138694.4(PKHD1):c.*1525G>A rs6941633
NM_138694.4(PKHD1):c.*1559T>C rs546309551
NM_138694.4(PKHD1):c.*1589T>G rs886061600
NM_138694.4(PKHD1):c.*1597G>A rs116233809
NM_138694.4(PKHD1):c.*1749C>T rs886061599
NM_138694.4(PKHD1):c.*1789G>A rs763964515
NM_138694.4(PKHD1):c.*1933G>A rs886061598
NM_138694.4(PKHD1):c.*2031A>G rs886061597
NM_138694.4(PKHD1):c.*2082A>G rs79635571
NM_138694.4(PKHD1):c.*2201G>A rs535226662
NM_138694.4(PKHD1):c.*2208A>G rs2784200
NM_138694.4(PKHD1):c.*220A>G rs751649423
NM_138694.4(PKHD1):c.*2304_*2305insA rs886061596
NM_138694.4(PKHD1):c.*2331C>T rs76762827
NM_138694.4(PKHD1):c.*2552_*2553dup rs113144792
NM_138694.4(PKHD1):c.*2553dup rs113144792
NM_138694.4(PKHD1):c.*2564A>G rs1414504
NM_138694.4(PKHD1):c.*2580C>A rs886061595
NM_138694.4(PKHD1):c.*27G>A rs764352165
NM_138694.4(PKHD1):c.*2857A>C rs886061594
NM_138694.4(PKHD1):c.*2922T>C rs146856769
NM_138694.4(PKHD1):c.*2967T>A rs41273714
NM_138694.4(PKHD1):c.*3025C>T rs2771012
NM_138694.4(PKHD1):c.*3026A>G rs2784199
NM_138694.4(PKHD1):c.*308C>T rs570760306
NM_138694.4(PKHD1):c.*3269C>A rs886061593
NM_138694.4(PKHD1):c.*3323T>C rs886061592
NM_138694.4(PKHD1):c.*3345T>A rs530251992
NM_138694.4(PKHD1):c.*3393C>A rs2784198
NM_138694.4(PKHD1):c.*3444G>A rs772732172
NM_138694.4(PKHD1):c.*3505_*3508AATT[1] rs552076092
NM_138694.4(PKHD1):c.*3520T>C rs886061591
NM_138694.4(PKHD1):c.*374T>C rs2784201
NM_138694.4(PKHD1):c.*636C>A rs41273718
NM_138694.4(PKHD1):c.*760T>G rs886061607
NM_138694.4(PKHD1):c.*780A>G rs886061606
NM_138694.4(PKHD1):c.*934G>T rs558281379
NM_138694.4(PKHD1):c.-214G>A rs886061625
NM_138694.4(PKHD1):c.-223G>A rs886061626
NM_138694.4(PKHD1):c.-30A>G rs767584874
NM_138694.4(PKHD1):c.10002A>G (p.Lys3334=) rs886061613
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037
NM_138694.4(PKHD1):c.10156+22398A>G rs1554206689
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169
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.10210A>G (p.Ile3404Val) rs147612089
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn)
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp) rs756792624
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) rs748863662
NM_138694.4(PKHD1):c.10411del (p.Val3471fs) rs1554183588
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs) rs1057516835
NM_138694.4(PKHD1):c.10443del (p.Leu3481fs) rs1554183559
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs) rs1057517326
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser)
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr)
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.10505A>T (p.Glu3502Val) rs1554183496
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs) rs1554183480
NM_138694.4(PKHD1):c.10524_10526CTT[1] (p.Phe3509del) rs1345766794
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs) rs1554183446
NM_138694.4(PKHD1):c.10571C>T (p.Ser3524Phe) rs1554183437
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser) rs1554183398
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067
NM_138694.4(PKHD1):c.1063G>T (p.Val355Phe) rs864622679
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter) rs1554219449
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter) rs1057516345
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.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter) rs780182068
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs) rs1057516652
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu) rs1298906012
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) rs1554183240
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) rs1554183235
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys) rs557405366
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661
NM_138694.4(PKHD1):c.10891_10892TA[1] (p.Tyr3631_Arg3632delinsTer) rs1554183204
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745
NM_138694.4(PKHD1):c.10924A>G (p.Met3642Val) rs747283913
NM_138694.4(PKHD1):c.10925T>C (p.Met3642Thr) rs1554183164
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs) rs765390756
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.10973T>C (p.Ile3658Thr) rs142536551
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11131G>A (p.Gly3711Arg) rs767963628
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs) rs1554183012
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
NM_138694.4(PKHD1):c.11206_11207AT[3] (p.Ile3738fs) rs1554176517
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs) rs1554176343
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983
NM_138694.4(PKHD1):c.11311-2A>G rs1554174903
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs) rs1554174796
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728
NM_138694.4(PKHD1):c.11398+2T>C
NM_138694.4(PKHD1):c.11399-1G>A
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu) rs1554169587
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs) rs1554169567
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln)
NM_138694.4(PKHD1):c.11507-12del rs771337119
NM_138694.4(PKHD1):c.11507-5C>T rs886061609
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) rs746471701
NM_138694.4(PKHD1):c.1156_1158AAT[1] (p.Asn387del) rs1554218506
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) rs1554167673
NM_138694.4(PKHD1):c.11665+1G>A rs759851475
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly) rs1561981487
NM_138694.4(PKHD1):c.11772_11773TG[1] (p.Val3925fs) rs1554165849
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11785+1G>T rs1488844530
NM_138694.4(PKHD1):c.11786-2del rs1554163591
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe) rs769223833
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys) rs146680689
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143
NM_138694.4(PKHD1):c.11885A>G (p.Glu3962Gly) rs886061608
NM_138694.4(PKHD1):c.11899_11907del (p.Val3967_Ala3969del) rs1457757188
NM_138694.4(PKHD1):c.11952_11954del (p.Gly3985del) rs1329790948
NM_138694.4(PKHD1):c.11986_12003del (p.Thr3996_Glu4001del) rs1554163379
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp) rs375680275
NM_138694.4(PKHD1):c.1205del (p.Phe402fs) rs1057517178
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter)
NM_138694.4(PKHD1):c.12099del (p.Gln4034fs) rs1554163298
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211
NM_138694.4(PKHD1):c.12118C>T (p.Gln4040Ter) rs1554163280
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter) rs745888824
NM_138694.4(PKHD1):c.12166del (p.Ala4056fs) rs1554163223
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu) rs758871283
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1233+99_1694-441del
NM_138694.4(PKHD1):c.1234-10T>A rs4715272
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala) rs144526315
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg) rs1554217772
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976
NM_138694.4(PKHD1):c.1353G>A (p.Met451Ile) rs886061622
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.1409del (p.Gly470fs) rs1057516975
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) rs557361225
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp)
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro)
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.1478_1483TCCGAG[3] (p.Val495_Arg496dup) rs1554217514
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120
NM_138694.4(PKHD1):c.1545C>T (p.Phe515=) rs267601071
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter)
NM_138694.4(PKHD1):c.156dup (p.Asn53fs) rs773991918
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs) rs1554216499
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856
NM_138694.4(PKHD1):c.1693+10G>A rs886061621
NM_138694.4(PKHD1):c.1693+2T>G
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter)
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) rs143867809
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1836+1G>A
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807
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.1893C>G (p.Phe631Leu) rs886061620
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143
NM_138694.4(PKHD1):c.1940G>A (p.Ser647Asn) rs1554214687
NM_138694.4(PKHD1):c.1947_1952del (p.Arg650_Thr651del) rs1554214650
NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys) rs200918134
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761
NM_138694.4(PKHD1):c.2017del (p.Asp673fs)
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser) rs781485593
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) rs377415956
NM_138694.4(PKHD1):c.2140+1G>A
NM_138694.4(PKHD1):c.2140+1G>C rs1554213853
NM_138694.4(PKHD1):c.2140+1G>T rs1554213853
NM_138694.4(PKHD1):c.2141-2A>C rs1554212403
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799
NM_138694.4(PKHD1):c.2168G>A (p.Arg723His) rs150597050
NM_138694.4(PKHD1):c.2172_2174del (p.Gly726del) rs763682158
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs)
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) rs1057516608
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs) rs1554211308
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859
NM_138694.4(PKHD1):c.2408-2A>G rs1554210085
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.2445G>T (p.Gln815His) rs775446499
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys)
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.2507_2515del (p.Val836_Glu838del) rs1554209944
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro)
NM_138694.4(PKHD1):c.2590del (p.Arg864fs) rs1057516709
NM_138694.4(PKHD1):c.2626G>C (p.Ala876Pro)
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) rs886042298
NM_138694.4(PKHD1):c.2654G>A (p.Gly885Asp) rs1307445542
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718
NM_138694.4(PKHD1):c.2715+1G>C rs1554209188
NM_138694.4(PKHD1):c.2715+2_2715+14del rs1057516562
NM_138694.4(PKHD1):c.2715+7del rs551015414
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208
NM_138694.4(PKHD1):c.281+1G>A
NM_138694.4(PKHD1):c.281+2dup rs1554228127
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.2822-1G>C rs1554208257
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860
NM_138694.4(PKHD1):c.2853C>A (p.Thr951=)
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter)
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln) rs753169961
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655
NM_138694.4(PKHD1):c.3097+2T>C rs1554207834
NM_138694.4(PKHD1):c.3110_3112CCA[1] (p.Thr1038del) rs1554204118
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs) rs1554204054
NM_138694.4(PKHD1):c.3228+1G>C rs868673401
NM_138694.4(PKHD1):c.3228+1G>T rs868673401
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3229-2del rs1057516283
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330
NM_138694.4(PKHD1):c.3269_3280del (p.Gly1090_Ser1093del) rs1554202991
NM_138694.4(PKHD1):c.3288T>C (p.Leu1096=) rs751889282
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg) rs746070060
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.3457_3458CA[5] (p.Gln1155fs) rs1554200778
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3481G>C (p.Glu1161Gln) rs878855202
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.3561-2A>G rs1057516982
NM_138694.4(PKHD1):c.3629-15G>A rs375870003
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) rs727504096
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn)
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs) rs1554199349
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583
NM_138694.4(PKHD1):c.390+1G>T rs752327566
NM_138694.4(PKHD1):c.390+1del rs1554227162
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092
NM_138694.4(PKHD1):c.3907del (p.Val1303fs)
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer) rs1554199226
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) rs536456650
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs)
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs) rs1057516594
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter)
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg)
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>G (p.Leu1407Arg)
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105
NM_138694.4(PKHD1):c.4295del (p.Val1432fs) rs1246693314
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs) rs1554198780
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter) rs1554198717
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)
NM_138694.4(PKHD1):c.448+2T>C rs1057517270
NM_138694.4(PKHD1):c.4485del (p.Ser1496fs) rs1325403863
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
NM_138694.4(PKHD1):c.4503T>G (p.Thr1501=) rs1554198630
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu)
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs) rs1057516382
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs) rs1057516691
NM_138694.4(PKHD1):c.4577_4588del (p.Cys1526_Thr1529del) rs1554198521
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter) rs1057516263
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer) rs1554224707
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)
NM_138694.4(PKHD1):c.4751G>T (p.Ser1584Ile) rs1197981811
NM_138694.4(PKHD1):c.4820_4821AT[1] (p.Tyr1607_Ile1608insTer) rs1057516626
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs) rs1057516885
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu) rs1554198203
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) rs28937907
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) rs1057517220
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566
NM_138694.4(PKHD1):c.5065del (p.Met1689fs) rs1554198072
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.5146G>T (p.Val1716Phe) rs751058491
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.5236+14A>G rs12210725
NM_138694.4(PKHD1):c.5236+1G>A rs398124487
NM_138694.4(PKHD1):c.5236+31_5236+34del rs547420704
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.5237-2A>C rs1554197152
NM_138694.4(PKHD1):c.527+1del rs1057516697
NM_138694.4(PKHD1):c.53-1G>A rs775511838
NM_138694.4(PKHD1):c.53-2A>G rs1554228601
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=) rs886061618
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile) rs1554197025
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu) rs1288521396
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026
NM_138694.4(PKHD1):c.5415_5417GGA[1] (p.Glu1806del) rs1554194551
NM_138694.4(PKHD1):c.5441dup (p.His1814fs)
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) rs142346881
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter) rs1057516692
NM_138694.4(PKHD1):c.5455_5456TG[1] (p.Cys1819_Asp1820delinsTer) rs1554194504
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs) rs1562140771
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys) rs776275341
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405
NM_138694.4(PKHD1):c.5600+1G>A
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322
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.5665del (p.Glu1889fs)
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs) rs1554191298
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5751+3A>G
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130
NM_138694.4(PKHD1):c.5862_5864del (p.Leu1956del) rs1554162788
NM_138694.4(PKHD1):c.5877_5878CA[1] (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs) rs1554162725
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.4(PKHD1):c.5909-2del rs1334913120
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.5953del (p.Ala1985fs) rs1561921358
NM_138694.4(PKHD1):c.5963T>C (p.Ile1988Thr) rs770492164
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly) rs1554144359
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr) rs1210348558
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637
NM_138694.4(PKHD1):c.6029del (p.Gln2010fs) rs1561920869
NM_138694.4(PKHD1):c.603-1G>A rs1554223403
NM_138694.4(PKHD1):c.603-2A>G rs757521428
NM_138694.4(PKHD1):c.6038T>C (p.Leu2013Pro) rs1554144276
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA rs1057517378
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.4(PKHD1):c.6294_6295TG[1] (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs) rs1554134080
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer) rs1405067373
NM_138694.4(PKHD1):c.6439_6441del (p.Asn2147del) rs1554133798
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter) rs557437764
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014
NM_138694.4(PKHD1):c.6490+1G>A rs1554133736
NM_138694.4(PKHD1):c.6491-1G>A rs1554132790
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958
NM_138694.4(PKHD1):c.6507_6511del (p.Cys2169_Tyr2171delinsTer)
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter) rs1057516706
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482
NM_138694.4(PKHD1):c.657C>T (p.Gly219=) rs189345248
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr) rs1459248210
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
NM_138694.4(PKHD1):c.6683-3C>T rs1554300531
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6809-2A>T
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs) rs760921148
NM_138694.4(PKHD1):c.6866-16_6866del rs1554299291
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.6887_6889TAA[1] (p.Ile2297del) rs1554299250
NM_138694.4(PKHD1):c.6900C>G (p.Asn2300Lys) rs776060304
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter) rs1057516441
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.6996+9T>A rs878855203
NM_138694.4(PKHD1):c.6996G>A (p.Glu2332=) rs775831255
NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser) rs1554290169
NM_138694.4(PKHD1):c.7029C>A (p.Tyr2343Ter)
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs)
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909
NM_138694.4(PKHD1):c.707+1G>A rs748365248
NM_138694.4(PKHD1):c.707+2T>C rs1554222939
NM_138694.4(PKHD1):c.708-1G>A rs1554222508
NM_138694.4(PKHD1):c.708-2A>C rs753492974
NM_138694.4(PKHD1):c.708-4G>A rs748018742
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter) rs1057516221
NM_138694.4(PKHD1):c.7106_7108del (p.Thr2369del) rs1554290053
NM_138694.4(PKHD1):c.7110-7T>A rs113034899
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs) rs1554289495
NM_138694.4(PKHD1):c.7192T>G (p.Trp2398Gly) rs762553057
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) rs199559837
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7270del (p.Asp2424fs) rs1057516596
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) rs753450358
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214
NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter)
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722
NM_138694.4(PKHD1):c.7351-1G>C rs1554282540
NM_138694.4(PKHD1):c.7351-21dup rs768522482
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) rs1037991711
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156
NM_138694.4(PKHD1):c.7486+1G>T rs1554282419
NM_138694.4(PKHD1):c.7487-5TA[3] rs1554281310
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter) rs1057516768
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) rs863224528
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn) rs142487082
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) rs779757789
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln)
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042
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.7717C>T (p.Arg2573Cys) rs752994816
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) rs565528098
NM_138694.4(PKHD1):c.7734-4T>C rs7452724
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603
NM_138694.4(PKHD1):c.779-12del rs5876252
NM_138694.4(PKHD1):c.779-9dup rs886061624
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs)
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs) rs1057516690
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs)
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer) rs1057516607
NM_138694.4(PKHD1):c.7911+19T>C rs201017366
NM_138694.4(PKHD1):c.7911+5C>A rs199953233
NM_138694.4(PKHD1):c.7912-1G>A rs1160209891
NM_138694.4(PKHD1):c.7912-2A>G rs1554271235
NM_138694.4(PKHD1):c.7912-5T>G rs371510537
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter) rs1057516490
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_138694.4(PKHD1):c.8107+1G>C rs1554270880
NM_138694.4(PKHD1):c.8107+4555A>G rs207466959
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs) rs1057516775
NM_138694.4(PKHD1):c.8173+12C>T rs368093611
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8174-2A>T
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) rs759658629
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309
NM_138694.4(PKHD1):c.8207G>C (p.Trp2736Ser) rs1562410452
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg) rs1554263087
NM_138694.4(PKHD1):c.8281G>T (p.Asp2761Tyr) rs1554263080
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8302+12T>A rs1571084
NM_138694.4(PKHD1):c.8303-1G>A rs786204241
NM_138694.4(PKHD1):c.8303-2A>G rs1554243821
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.4(PKHD1):c.8393T>G (p.Val2798Gly) rs1554243589
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497
NM_138694.4(PKHD1):c.8441-5A>G
NM_138694.4(PKHD1):c.8494G>T (p.Ala2832Ser) rs779751632
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs)
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)
NM_138694.4(PKHD1):c.8642+1G>A rs1485161784
NM_138694.4(PKHD1):c.8648_8650TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp) rs886061615
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs)
NM_138694.4(PKHD1):c.8741_8743AAG[3] (p.Glu2915dup) rs1554221417
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.8788C>T (p.Arg2930Trp) rs752776137
NM_138694.4(PKHD1):c.8798-2A>T
NM_138694.4(PKHD1):c.8799_8801dup (p.Ser2934_Val2935insArg) rs781387046
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs) rs1057517244
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236
NM_138694.4(PKHD1):c.8885A>G (p.Asp2962Gly) rs1554220680
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.889T>C (p.Cys297Arg) rs1231976944
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
NM_138694.4(PKHD1):c.8948C>T (p.Ser2983Leu) rs141169758
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs) rs1057517387
NM_138694.4(PKHD1):c.8989G>A (p.Gly2997Arg) rs886061614
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)
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.9059T>C (p.Leu3020Pro) rs757148837
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg) rs146550270
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer) rs1554218926
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys) rs1060501355
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs)
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981
NM_138694.4(PKHD1):c.9253C>G (p.Gln3085Glu)
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) rs769571577
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268
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.9402G>A (p.Lys3134=) rs143737660
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297
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.9478C>T (p.His3160Tyr) rs147351244
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser) rs1343246818
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs) rs1554218519
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.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653
NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del) rs1554218479
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter) rs758732107
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577
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)
NM_138694.4(PKHD1):c.9725G>C (p.Gly3242Ala) rs886044327
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs) rs751754608
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699
NM_138694.4(PKHD1):c.9829+1G>A rs1273202231
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter) rs1057517357
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337
NM_138694.4(PKHD1):c.9998+1G>T rs1554217691
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563

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