ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 746
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 6p12.2(chr6:51801779-51878315)x1
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.*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.*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.*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.*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.*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.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His) rs752841263
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
NM_138694.4(PKHD1):c.10230A>G (p.Gln3410=) rs1349645712
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn)
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr)
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp) rs756792624
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val) rs139742511
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val)
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu)
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.10492G>A (p.Val3498Ile)
NM_138694.4(PKHD1):c.10505A>T (p.Glu3502Val) rs1554183496
NM_138694.4(PKHD1):c.10514G>A (p.Ser3505Asn)
NM_138694.4(PKHD1):c.10524C>A (p.Val3508=) rs1562042503
NM_138694.4(PKHD1):c.10524_10526CTT[1] (p.Phe3509del) rs1345766794
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637
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.10591A>G (p.Ile3531Val)
NM_138694.4(PKHD1):c.1059G>T (p.Gln353His) rs1317226081
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) rs539832575
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser) rs1554183398
NM_138694.4(PKHD1):c.1063G>T (p.Val355Phe) rs864622679
NM_138694.4(PKHD1):c.10651G>A (p.Glu3551Lys) rs751593192
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) rs201534300
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956
NM_138694.4(PKHD1):c.10724G>T (p.Gly3575Val) rs886061611
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) rs148300854
NM_138694.4(PKHD1):c.10780C>A (p.Gln3594Lys) rs1562041176
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu) rs1298906012
NM_138694.4(PKHD1):c.10836T>C (p.Ala3612=) rs886042607
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys)
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=) rs1290859259
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493
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.10926G>A (p.Met3642Ile) rs78518523
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro) rs139442289
NM_138694.4(PKHD1):c.10951C>A (p.Pro3651Thr) rs1220149658
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=) rs1303599332
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.11002G>T (p.Asp3668Tyr) rs114237522
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690
NM_138694.4(PKHD1):c.11101G>A (p.Val3701Ile) rs979287276
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr) rs373896034
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907
NM_138694.4(PKHD1):c.11131G>A (p.Gly3711Arg) rs767963628
NM_138694.4(PKHD1):c.11161G>A (p.Val3721Ile) rs1305304437
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
NM_138694.4(PKHD1):c.11175-12T>C
NM_138694.4(PKHD1):c.1119-18C>G rs367960459
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) rs1206336265
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.11245C>T (p.Pro3749Ser) rs1562020310
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.11322A>C (p.Val3774=) rs1388812392
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val) rs1299129734
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu) rs1554169587
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926
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.1148C>A (p.Pro383Gln) rs1417895348
NM_138694.4(PKHD1):c.11507-11C>T rs201478327
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.11539G>T (p.Ala3847Ser) rs769135174
NM_138694.4(PKHD1):c.11578A>G (p.Ile3860Val) rs755986501
NM_138694.4(PKHD1):c.11601_11602TG[1] (p.Val3868fs) rs1561991558
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=) rs752509045
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401
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.11785+1_11785+35del
NM_138694.4(PKHD1):c.11786-2del rs1554163591
NM_138694.4(PKHD1):c.11786-3C>A
NM_138694.4(PKHD1):c.11789T>A (p.Met3930Lys) rs148691090
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536
NM_138694.4(PKHD1):c.11818A>T (p.Asn3940Tyr) rs757479262
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) rs35403035
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=) rs199564783
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.11885A>G (p.Glu3962Gly) rs886061608
NM_138694.4(PKHD1):c.11899_11907del (p.Val3967_Ala3969del) rs1457757188
NM_138694.4(PKHD1):c.11912G>A (p.Gly3971Asp)
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.1201C>A (p.His401Asn)
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.12094C>T (p.Pro4032Ser)
NM_138694.4(PKHD1):c.12099del (p.Gln4034fs) rs1554163298
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830
NM_138694.4(PKHD1):c.12107G>A (p.Arg4036Gln)
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.12147G>A (p.Glu4049=) rs1561967407
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter) rs745888824
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg)
NM_138694.4(PKHD1):c.12166del (p.Ala4056fs) rs1554163223
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu) rs758871283
NM_138694.4(PKHD1):c.12201G>A (p.Pro4067=) rs750988521
NM_138694.4(PKHD1):c.12213G>A (p.Gln4071=) rs1406924877
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys) rs1347911533
NM_138694.4(PKHD1):c.1225A>G (p.Arg409Gly)
NM_138694.4(PKHD1):c.122T>G (p.Ile41Ser) rs886043527
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC rs1554217929
NM_138694.4(PKHD1):c.1234-9T>C rs200707468
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala) rs144526315
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
NM_138694.4(PKHD1):c.1285G>C (p.Glu429Gln) rs372376237
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) rs727504094
NM_138694.4(PKHD1):c.128A>G (p.Asp43Gly)
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) rs201195801
NM_138694.4(PKHD1):c.130+9G>A rs367608402
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444
NM_138694.4(PKHD1):c.131G>T (p.Gly44Val) rs727504097
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.1378G>A (p.Gly460Arg)
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)
NM_138694.4(PKHD1):c.143G>T (p.Gly48Val)
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp)
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro)
NM_138694.4(PKHD1):c.1478_1483TCCGAG[3] (p.Val495_Arg496dup) rs1554217514
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120
NM_138694.4(PKHD1):c.1512+9C>G
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe)
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val) rs142608481
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1602+4G>A rs374817290
NM_138694.4(PKHD1):c.1639T>C (p.Cys547Arg) rs1562248576
NM_138694.4(PKHD1):c.164G>A (p.Gly55Asp)
NM_138694.4(PKHD1):c.1652C>T (p.Pro551Leu) rs727504093
NM_138694.4(PKHD1):c.1674C>T (p.Leu558=) rs1562248370
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln)
NM_138694.4(PKHD1):c.1693+10G>A rs886061621
NM_138694.4(PKHD1):c.1693+9C>T
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) rs143867809
NM_138694.4(PKHD1):c.1737G>A (p.Thr579=) rs765871629
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys)
NM_138694.4(PKHD1):c.1796C>T (p.Pro599Leu) rs199941159
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys) rs199846197
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=)
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165
NM_138694.4(PKHD1):c.187_189del (p.Val63del) rs1554228222
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu) rs886061620
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143
NM_138694.4(PKHD1):c.193G>A (p.Val65Met) rs749853418
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.1964+17G>T rs201349527
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188
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.2005C>G (p.Arg669Gly)
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761
NM_138694.4(PKHD1):c.2050C>A (p.Leu684Met) rs727504091
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.2091G>A (p.Thr697=) rs147826962
NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp) rs199858063
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu) rs144455663
NM_138694.4(PKHD1):c.2141-3T>C
NM_138694.4(PKHD1):c.2141-4C>G rs1042054004
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366
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.217C>T (p.Arg73Trp) rs567357782
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090
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.2217G>A (p.Pro739=) rs373367366
NM_138694.4(PKHD1):c.2217G>T (p.Pro739=) rs373367366
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=) rs886043022
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2279+13T>G rs188914598
NM_138694.4(PKHD1):c.2280-10C>T rs749295454
NM_138694.4(PKHD1):c.2280-4A>T
NM_138694.4(PKHD1):c.2280-9G>A rs376576760
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)
NM_138694.4(PKHD1):c.2293G>A (p.Glu765Lys) rs1554211410
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met)
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp)
NM_138694.4(PKHD1):c.2372A>G (p.His791Arg) rs754581415
NM_138694.4(PKHD1):c.2378G>A (p.Arg793His) rs138620202
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859
NM_138694.4(PKHD1):c.2407+5A>G
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg)
NM_138694.4(PKHD1):c.2445G>T (p.Gln815His) rs775446499
NM_138694.4(PKHD1):c.2448C>T (p.Leu816=) rs771790015
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys)
NM_138694.4(PKHD1):c.2495G>A (p.Ser832Asn) rs1562221186
NM_138694.4(PKHD1):c.2507_2515del (p.Val836_Glu838del) rs1554209944
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg) rs1562220663
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp)
NM_138694.4(PKHD1):c.2577G>A (p.Leu859=) rs747583853
NM_138694.4(PKHD1):c.258G>A (p.Leu86=) rs1562305126
NM_138694.4(PKHD1):c.2593-10A>G
NM_138694.4(PKHD1):c.2607C>T (p.Asn869=) rs147051973
NM_138694.4(PKHD1):c.2610T>C (p.Leu870=)
NM_138694.4(PKHD1):c.2626G>C (p.Ala876Pro)
NM_138694.4(PKHD1):c.262G>C (p.Val88Leu) rs374447352
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=) rs147915980
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)
NM_138694.4(PKHD1):c.270A>G (p.Thr90=) rs886044598
NM_138694.4(PKHD1):c.2715+7del rs551015414
NM_138694.4(PKHD1):c.2716-3C>G rs1057518964
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.2788A>G (p.Thr930Ala) rs144387673
NM_138694.4(PKHD1):c.2795G>A (p.Cys932Tyr) rs1329209110
NM_138694.4(PKHD1):c.281+2dup rs1554228127
NM_138694.4(PKHD1):c.282-3C>T
NM_138694.4(PKHD1):c.2822-10C>A
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)
NM_138694.4(PKHD1):c.2876C>T (p.Ser959Phe)
NM_138694.4(PKHD1):c.2894C>T (p.Thr965Ile) rs1554208153
NM_138694.4(PKHD1):c.2929A>G (p.Asn977Asp) rs749030797
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr) rs1554208064
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe) rs398124482
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg) rs794727447
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln) rs753169961
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val) rs979700489
NM_138694.4(PKHD1):c.3009T>C (p.Gly1003=) rs886042383
NM_138694.4(PKHD1):c.3043C>G (p.Leu1015Val) rs1272367929
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln)
NM_138694.4(PKHD1):c.3075G>T (p.Glu1025Asp) rs746461184
NM_138694.4(PKHD1):c.3084A>G (p.Arg1028=) rs754425809
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)
NM_138694.4(PKHD1):c.3098-3C>T rs368231573
NM_138694.4(PKHD1):c.3110_3112CCA[1] (p.Thr1038del) rs1554204118
NM_138694.4(PKHD1):c.3119G>A (p.Arg1040Gln) rs751832041
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) rs201123815
NM_138694.4(PKHD1):c.3259G>C (p.Val1087Leu)
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.3275A>G (p.Tyr1092Cys) rs1249309896
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285
NM_138694.4(PKHD1):c.3320A>G (p.Asn1107Ser) rs1162008544
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr)
NM_138694.4(PKHD1):c.3334_3335insTTT (p.Thr1112delinsIleSer) rs1562188854
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg) rs746070060
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071
NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro) rs144365187
NM_138694.4(PKHD1):c.3393G>A (p.Ala1131=) rs1562177292
NM_138694.4(PKHD1):c.3411G>A (p.Thr1137=)
NM_138694.4(PKHD1):c.3432C>T (p.His1144=)
NM_138694.4(PKHD1):c.3452C>T (p.Pro1151Leu)
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.3529T>C (p.Ser1177Pro)
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387
NM_138694.4(PKHD1):c.3604G>A (p.Glu1202Lys) rs554956088
NM_138694.4(PKHD1):c.3620C>G (p.Ser1207Cys) rs1562174999
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=) rs182216709
NM_138694.4(PKHD1):c.3628+9C>A
NM_138694.4(PKHD1):c.3629-15G>A rs375870003
NM_138694.4(PKHD1):c.3643A>T (p.Ser1215Cys)
NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp) rs376121326
NM_138694.4(PKHD1):c.3704G>A (p.Arg1235Gln) rs567239866
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln)
NM_138694.4(PKHD1):c.3729G>A (p.Thr1243=) rs759084914
NM_138694.4(PKHD1):c.3731A>C (p.Glu1244Ala) rs886043209
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val)
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn)
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro)
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=) rs1373102999
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=) rs145960781
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His) rs374233100
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092
NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu)
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.4017G>C (p.Glu1339Asp) rs886043210
NM_138694.4(PKHD1):c.4019C>G (p.Thr1340Arg)
NM_138694.4(PKHD1):c.401C>T (p.Ala134Val)
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=) rs147584295
NM_138694.4(PKHD1):c.4105C>A (p.Arg1369Ser)
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211
NM_138694.4(PKHD1):c.4112A>C (p.Lys1371Thr) rs1554199021
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr) rs773345692
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552
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.4257G>A (p.Arg1419=) rs577832997
NM_138694.4(PKHD1):c.4264C>T (p.Arg1422Trp)
NM_138694.4(PKHD1):c.4265G>C (p.Arg1422Pro) rs557773345
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) rs771702541
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579
NM_138694.4(PKHD1):c.4341G>A (p.Leu1447=) rs1562165566
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) rs146649894
NM_138694.4(PKHD1):c.4380C>T (p.Asn1460=) rs371934160
NM_138694.4(PKHD1):c.4439T>A (p.Ile1480Lys)
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096
NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr) rs144905283
NM_138694.4(PKHD1):c.445C>T (p.Pro149Ser) rs886042420
NM_138694.4(PKHD1):c.446C>T (p.Pro149Leu)
NM_138694.4(PKHD1):c.449-6A>T rs200204976
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu)
NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly) rs1271610315
NM_138694.4(PKHD1):c.4514G>A (p.Arg1505Lys)
NM_138694.4(PKHD1):c.4540G>C (p.Asp1514His) rs147098776
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)
NM_138694.4(PKHD1):c.4549A>G (p.Met1517Val) rs1562163930
NM_138694.4(PKHD1):c.4554A>G (p.Val1518=) rs1562163878
NM_138694.4(PKHD1):c.4577_4588del (p.Cys1526_Thr1529del) rs1554198521
NM_138694.4(PKHD1):c.4581T>G (p.Asn1527Lys) rs1554198527
NM_138694.4(PKHD1):c.4606G>A (p.Val1536Ile) rs371846890
NM_138694.4(PKHD1):c.4613G>A (p.Cys1538Tyr) rs794727565
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)
NM_138694.4(PKHD1):c.4751G>T (p.Ser1584Ile) rs1197981811
NM_138694.4(PKHD1):c.4792C>G (p.Leu1598Val) rs1562162277
NM_138694.4(PKHD1):c.4812G>A (p.Thr1604=) rs780533224
NM_138694.4(PKHD1):c.4852A>G (p.Ile1618Val)
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)
NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys)
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=)
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031
NM_138694.4(PKHD1):c.4876A>G (p.Ile1626Val) rs770183868
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile)
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu) rs1554198203
NM_138694.4(PKHD1):c.5086T>G (p.Ser1696Ala) rs1562160374
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.5123C>A (p.Ser1708Tyr)
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509
NM_138694.4(PKHD1):c.5130G>T (p.Pro1710=)
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=)
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.5153G>T (p.Gly1718Val) rs1562159899
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432
NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=) rs187667255
NM_138694.4(PKHD1):c.5236+4A>G rs1264894779
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=)
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu)
NM_138694.4(PKHD1):c.5275G>C (p.Gly1759Arg) rs398124488
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.528-18A>T rs200804428
NM_138694.4(PKHD1):c.5283T>G (p.Ser1761=)
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=) rs886061618
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln) rs370557603
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.5381T>C (p.Val1794Ala)
NM_138694.4(PKHD1):c.5397G>A (p.Leu1799=) rs1458152386
NM_138694.4(PKHD1):c.5405T>C (p.Leu1802Pro)
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His)
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.544G>A (p.Ala182Thr) rs142346881
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=)
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5527A>G (p.Ser1843Gly) rs1159626384
NM_138694.4(PKHD1):c.5574T>G (p.Phe1858Leu) rs1562140096
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501
NM_138694.4(PKHD1):c.5586G>A (p.Ser1862=) rs1372900985
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys) rs776275341
NM_138694.4(PKHD1):c.5588G>A (p.Gly1863Asp) rs794727578
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405
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.5706C>T (p.Thr1902=)
NM_138694.4(PKHD1):c.5726G>A (p.Arg1909Gln)
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5752-9G>A rs184441390
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488
NM_138694.4(PKHD1):c.5787C>T (p.Ser1929=) rs1561990875
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.5908G>C (p.Gly1970Arg) rs794727592
NM_138694.4(PKHD1):c.5909G>A (p.Gly1970Glu) rs750312874
NM_138694.4(PKHD1):c.5944G>A (p.Glu1982Lys)
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.6038T>C (p.Leu2013Pro) rs1554144276
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=) rs373208457
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.607C>T (p.Pro203Ser)
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.6130C>T (p.Pro2044Ser) rs777570978
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala) rs1283289447
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=) rs148817026
NM_138694.4(PKHD1):c.624T>C (p.His208=) rs767511678
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys)
NM_138694.4(PKHD1):c.642G>A (p.Gln214=) rs762584715
NM_138694.4(PKHD1):c.6439_6441del (p.Asn2147del) rs1554133798
NM_138694.4(PKHD1):c.6462T>G (p.Val2154=) rs878852998
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014
NM_138694.4(PKHD1):c.6479A>G (p.Asn2160Ser)
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958
NM_138694.4(PKHD1):c.6512A>G (p.Tyr2171Cys) rs1554132731
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) rs375436864
NM_138694.4(PKHD1):c.6564C>T (p.Ile2188=)
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070
NM_138694.4(PKHD1):c.657C>T (p.Gly219=) rs189345248
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) rs199897497
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.668-3C>T
NM_138694.4(PKHD1):c.6683-3C>T rs1554300531
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044
NM_138694.4(PKHD1):c.6713A>G (p.Asn2238Ser) rs1562588214
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys)
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser) rs146102132
NM_138694.4(PKHD1):c.6795T>C (p.His2265=) rs186227053
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val)
NM_138694.4(PKHD1):c.6808+5G>C rs398124490
NM_138694.4(PKHD1):c.6847A>G (p.Ile2283Val) rs1554299441
NM_138694.4(PKHD1):c.6850C>A (p.His2284Asn) rs1554299439
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715
NM_138694.4(PKHD1):c.6866-4_6866-2del rs748114217
NM_138694.4(PKHD1):c.6866-5A>G rs886061617
NM_138694.4(PKHD1):c.6872C>T (p.Ser2291Leu)
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.6948G>A (p.Met2316Ile)
NM_138694.4(PKHD1):c.6992T>C (p.Ile2331Thr)
NM_138694.4(PKHD1):c.6996+5G>A rs1232218253
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.7067C>T (p.Pro2356Leu) rs141360909
NM_138694.4(PKHD1):c.707A>T (p.Lys236Met)
NM_138694.4(PKHD1):c.708-4G>A rs748018742
NM_138694.4(PKHD1):c.708-5C>T rs371844893
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val) rs748865599
NM_138694.4(PKHD1):c.7106C>G (p.Thr2369Ser) rs1216619838
NM_138694.4(PKHD1):c.7106_7108del (p.Thr2369del) rs1554290053
NM_138694.4(PKHD1):c.7110-7T>A rs113034899
NM_138694.4(PKHD1):c.7110G>A (p.Arg2370=) rs1562532532
NM_138694.4(PKHD1):c.7118T>C (p.Leu2373Pro) rs1562532468
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=)
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.7238G>A (p.Arg2413His) rs772219802
NM_138694.4(PKHD1):c.723G>A (p.Lys241=) rs886044700
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.727G>T (p.Ala243Ser)
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138694.4(PKHD1):c.7282G>C (p.Asp2428His) rs766312557
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)
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.7308T>G (p.Thr2436=)
NM_138694.4(PKHD1):c.7350+5G>A rs1554287798
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met) rs201173272
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.7487-5TA[3] rs1554281310
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val)
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn) rs142487082
NM_138694.4(PKHD1):c.7626T>C (p.Ser2542=)
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) rs779757789
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys) rs886042259
NM_138694.4(PKHD1):c.7665C>T (p.Ser2555=)
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln)
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042
NM_138694.4(PKHD1):c.7689T>G (p.Ser2563Arg) rs1490760433
NM_138694.4(PKHD1):c.7694G>C (p.Cys2565Ser) rs1336917781
NM_138694.4(PKHD1):c.769A>C (p.Thr257Pro) rs778755997
NM_138694.4(PKHD1):c.7715A>T (p.His2572Leu)
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.7734-6C>A rs367564272
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537
NM_138694.4(PKHD1):c.7758T>C (p.Tyr2586=)
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu) rs1160054242
NM_138694.4(PKHD1):c.778+10C>G rs1365502451
NM_138694.4(PKHD1):c.778G>A (p.Glu260Lys) rs1554222386
NM_138694.4(PKHD1):c.779-12del rs5876252
NM_138694.4(PKHD1):c.779-9dup rs886061624
NM_138694.4(PKHD1):c.782T>C (p.Ile261Thr) rs398124493
NM_138694.4(PKHD1):c.7864A>G (p.Thr2622Ala)
NM_138694.4(PKHD1):c.7887C>T (p.Asn2629=) rs146083613
NM_138694.4(PKHD1):c.7906C>T (p.Leu2636=)
NM_138694.4(PKHD1):c.7911+19T>C rs201017366
NM_138694.4(PKHD1):c.7911+5C>A rs199953233
NM_138694.4(PKHD1):c.7912-5T>G rs371510537
NM_138694.4(PKHD1):c.7956G>T (p.Leu2652=)
NM_138694.4(PKHD1):c.7957C>T (p.Leu2653=) rs556212333
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln) rs778592523
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=) rs755688912
NM_138694.4(PKHD1):c.802A>G (p.Thr268Ala) rs1338872732
NM_138694.4(PKHD1):c.8036T>C (p.Leu2679Pro) rs200129776
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg) rs1185197350
NM_138694.4(PKHD1):c.8086C>G (p.Leu2696Val) rs1562452827
NM_138694.4(PKHD1):c.8090G>A (p.Arg2697Lys) rs794727747
NM_138694.4(PKHD1):c.8107+8T>G rs368339881
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp) rs201254195
NM_138694.4(PKHD1):c.812T>C (p.Leu271Pro) rs750887164
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503
NM_138694.4(PKHD1):c.8158C>T (p.Pro2720Ser)
NM_138694.4(PKHD1):c.8173+12C>T rs368093611
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) rs759658629
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=) rs149310653
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>C (p.Glu2747Gln) rs794727756
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) rs1562410143
NM_138694.4(PKHD1):c.8246_8247inv (p.Trp2749Ser) rs398124494
NM_138694.4(PKHD1):c.8252G>C (p.Gly2751Ala) rs1441352481
NM_138694.4(PKHD1):c.826A>T (p.Asn276Tyr)
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.8302+5G>A rs1554263049
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128
NM_138694.4(PKHD1):c.831C>T (p.Ile277=)
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=)
NM_138694.4(PKHD1):c.8393T>G (p.Val2798Gly) rs1554243589
NM_138694.4(PKHD1):c.8410A>G (p.Met2804Val)
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.8440+10G>C rs376658460
NM_138694.4(PKHD1):c.8455C>T (p.Pro2819Ser) rs886043763
NM_138694.4(PKHD1):c.8466G>A (p.Lys2822=)
NM_138694.4(PKHD1):c.8471A>G (p.Gln2824Arg) rs1246250277
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8494G>T (p.Ala2832Ser) rs779751632
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8554+3A>G rs370312392
NM_138694.4(PKHD1):c.8575C>A (p.Leu2859Ile) rs727504086
NM_138694.4(PKHD1):c.8599T>C (p.Ser2867Pro)
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.868G>A (p.Val290Ile)
NM_138694.4(PKHD1):c.873C>T (p.Thr291=)
NM_138694.4(PKHD1):c.8741_8743AAG[3] (p.Glu2915dup) rs1554221417
NM_138694.4(PKHD1):c.8755C>T (p.His2919Tyr) rs886042601
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp)
NM_138694.4(PKHD1):c.8788C>T (p.Arg2930Trp) rs752776137
NM_138694.4(PKHD1):c.878C>T (p.Ala293Val) rs398124499
NM_138694.4(PKHD1):c.8798-10A>T rs1562235798
NM_138694.4(PKHD1):c.8798-7G>A rs1554220805
NM_138694.4(PKHD1):c.8799_8801dup (p.Ser2934_Val2935insArg) rs781387046
NM_138694.4(PKHD1):c.880+5C>T
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met)
NM_138694.4(PKHD1):c.8814G>A (p.Thr2938=) rs755169390
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)
NM_138694.4(PKHD1):c.8885A>G (p.Asp2962Gly) rs1554220680
NM_138694.4(PKHD1):c.8886C>T (p.Asp2962=)
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.8948C>T (p.Ser2983Leu) rs141169758
NM_138694.4(PKHD1):c.8951-13C>T rs112249812
NM_138694.4(PKHD1):c.8970T>C (p.Asn2990=) rs1293255485
NM_138694.4(PKHD1):c.8989G>A (p.Gly2997Arg) rs886061614
NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=) rs777095602
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) rs779418460
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.9106G>T (p.Val3036Leu) rs141912421
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
NM_138694.4(PKHD1):c.910C>G (p.Pro304Ala) rs727504095
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592
NM_138694.4(PKHD1):c.9154G>T (p.Asp3052Tyr)
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys) rs1060501355
NM_138694.4(PKHD1):c.9186T>C (p.Asn3062=) rs755873874
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
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.9282C>T (p.Asn3094=)
NM_138694.4(PKHD1):c.9299A>G (p.Glu3100Gly) rs749998868
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln) rs140781915
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro) rs373241537
NM_138694.4(PKHD1):c.9391C>T (p.His3131Tyr) rs886043567
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660
NM_138694.4(PKHD1):c.9469_9470delinsAA (p.Ala3157Asn) rs878855204
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244
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.9544G>A (p.Val3182Ile) rs575058604
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593
NM_138694.4(PKHD1):c.9560del (p.Ser3187fs) rs1562222437
NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His)
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=) rs201670044
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.9619G>A (p.Ala3207Thr)
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
NM_138694.4(PKHD1):c.9696T>C (p.Ala3232=) rs368588369
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.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9725G>A (p.Gly3242Asp) rs886044327
NM_138694.4(PKHD1):c.9725G>C (p.Gly3242Ala) rs886044327
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540
NM_138694.4(PKHD1):c.977-7C>G
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337
NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys)
NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys) rs1057524563

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.