ClinVar Miner

List of variants in gene PKHD1 reported as likely pathogenic for Autosomal recessive polycystic kidney disease

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Gene type:
ClinVar version:
Total variants: 324
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00041
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00026
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00018
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg) rs1412045164 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294 0.00003
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr) rs773880430 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_138694.4(PKHD1):c.106A>G (p.Thr36Ala) rs758858303 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11398+2T>C rs754038777 0.00001
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) rs746471701 0.00001
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter) rs1295732689 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 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.1602+2T>C rs1479728870 0.00001
NM_138694.4(PKHD1):c.1694-2A>G rs1807619777 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394 0.00001
NM_138694.4(PKHD1):c.2821+2T>C rs1394431107 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_138694.4(PKHD1):c.3229-2del rs1057516283 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00001
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00001
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly) rs202016058 0.00001
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn) rs200929620 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.6808+1G>T rs1217968843 0.00001
NM_138694.4(PKHD1):c.6865+1G>A rs372573190 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8318T>G (p.Val2773Gly) rs1471306684 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.8554+1G>A rs1790925351 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.881-1G>A rs1554220431 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 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.9296C>A (p.Ser3099Ter) rs757946548 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615 0.00001
NM_138694.4(PKHD1):c.9371A>G (p.His3124Arg) rs373241537 0.00001
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys) rs957419550 0.00001
NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile) rs1263208576 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.9998G>C (p.Arg3333Thr) rs1057524563 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.(?_51491785)_(51609350_?)del
NC_000006.11:g.(?_51491828)_(51492507_?)del
NC_000006.11:g.(?_51497353)_(51524777_?)del
NC_000006.11:g.(?_51518816)_(51523750_?)del
NC_000006.11:g.(?_51609173)_(51611697_?)del
NC_000006.11:g.(?_51747238)_(51777384_?)dup
NC_000006.11:g.(?_51750655)_(51768850_?)dup
NC_000006.11:g.(?_51751911)_(51799166_?)dup
NC_000006.11:g.(?_51768385)_(51799130_?)dup
NC_000006.11:g.(?_51777144)_(51777394_?)dup
NC_000006.11:g.(?_51798898)_(51824834_?)dup
NC_000006.11:g.(?_51875087)_(51882447_?)dup
NC_000006.11:g.(?_51917864)_(51924850_?)dup
NC_000006.12:g.(?_51855873)_(51912596_?)dup
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp) rs1384539153
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His) rs777377414
NM_138694.4(PKHD1):c.10157-1G>T rs2150418842
NM_138694.4(PKHD1):c.10157-2A>G rs2150418852
NM_138694.4(PKHD1):c.10180T>C (p.Cys3394Arg) rs2533458266
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr) rs1772559884
NM_138694.4(PKHD1):c.10226A>T (p.Asp3409Val) rs754808508
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter) rs1772516071
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly) rs1772510920
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter) rs1554219429
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11174+2T>C rs2150410774
NM_138694.4(PKHD1):c.11174_11175-4798del
NM_138694.4(PKHD1):c.11175-2A>G rs2533306617
NM_138694.4(PKHD1):c.1118+1G>T rs1808826795
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro) rs1320401077
NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu) rs2533303930
NM_138694.4(PKHD1):c.11310+1G>C rs1365407882
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.11507-1G>A rs2150304734
NM_138694.4(PKHD1):c.11507-2A>T rs2533096592
NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile) rs2533402360
NM_138694.4(PKHD1):c.11666-593_11752del rs2150277532
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser) rs1808425655
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.126del (p.Phe42fs) rs760586271
NM_138694.4(PKHD1):c.1338del (p.Leu447fs) rs1582013246
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser) rs2533368902
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.1513-1G>A rs2533343847
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter) rs1582002018
NM_138694.4(PKHD1):c.1693+1G>T rs2128209217
NM_138694.4(PKHD1):c.1693+2T>C rs1581999471
NM_138694.4(PKHD1):c.1694-1G>C rs398124477
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter) rs1581992845
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1836+1G>C
NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr) rs769867380
NM_138694.4(PKHD1):c.1964+2T>C rs1453646167
NM_138694.4(PKHD1):c.1965-2A>T rs2128203974
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) rs1554214097
NM_138694.4(PKHD1):c.2017del (p.Asp673fs) rs1581974348
NM_138694.4(PKHD1):c.2141-1G>A rs2128197058
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser) rs1806602099
NM_138694.4(PKHD1):c.2172del (p.Gly726fs) rs1806601043
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
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.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.2383C>T (p.Gln795Ter)
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro) rs1203260419
NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg) rs1466595320
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.2592+1G>T rs758812102
NM_138694.4(PKHD1):c.2593-1G>A
NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro) rs886042298
NM_138694.4(PKHD1):c.2715+1G>T rs1554209188
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro) rs1805300035
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.281+1G>T rs1582154630
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.2821+1G>A
NM_138694.4(PKHD1):c.2822-1G>C rs1554208257
NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu) rs2533050685
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.3098-1G>A rs2128169165
NM_138694.4(PKHD1):c.3098-2A>T rs1013567047
NM_138694.4(PKHD1):c.3118del (p.Arg1040fs) rs1803834984
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg) rs1322231013
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs) rs1554204054
NM_138694.4(PKHD1):c.3229-1G>A rs2532875684
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro) rs1803322601
NM_138694.4(PKHD1):c.3365-3C>T rs2128153381
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.3561-1G>A rs1802457333
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs) rs1802132538
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.390+1G>A rs752327566
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter) rs1226122841
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr) rs2128144732
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del) rs1802029655
NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro) rs1464962854
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe) rs753307105
NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp) rs2532717700
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs) rs1802018167
NM_138694.4(PKHD1):c.449-1G>A rs2533630386
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr) rs1810936262
NM_138694.4(PKHD1):c.51A>G (p.Ala17=) rs2533801001
NM_138694.4(PKHD1):c.53-1G>A rs775511838
NM_138694.4(PKHD1):c.53-3C>A rs1021843705
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser) rs1801599945
NM_138694.4(PKHD1):c.5380+1G>C rs1354626305
NM_138694.4(PKHD1):c.5380+2T>G rs1801591463
NM_138694.4(PKHD1):c.5381-7_5385del rs2128130561
NM_138694.4(PKHD1):c.5381-9T>G rs1332944383
NM_138694.4(PKHD1):c.5441dup (p.His1814fs) rs908880474
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs) rs1562140771
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter) rs1810710453
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter) rs2128231878
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter) rs1397593913
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5752-1G>C rs2537382687
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) rs1791765505
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs) rs1791763088
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs) rs1554162725
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_138694.4(PKHD1):c.5909-2del rs1334913120
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly) rs1554144359
NM_138694.4(PKHD1):c.602+1G>A rs1554223950
NM_138694.4(PKHD1):c.602+2T>A rs2128231798
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6121+1G>T rs2127767937
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6332+1G>A rs1042247087
NM_138694.4(PKHD1):c.6333-1G>C
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter) rs557437764
NM_138694.4(PKHD1):c.6491-2A>G rs2127653183
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) rs369925690
NM_138694.4(PKHD1):c.6683-2A>C rs2127637373
NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly) rs2536571512
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
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 rs1781631365
NM_138694.4(PKHD1):c.6866-2A>T rs775684274
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6893G>T (p.Arg2298Ile) rs1781623229
NM_138694.4(PKHD1):c.6996+2del rs2127621751
NM_138694.4(PKHD1):c.6996+4A>T rs781173081
NM_138694.4(PKHD1):c.707+2T>C rs1554222939
NM_138694.4(PKHD1):c.7215+1G>T rs866054011
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7350+2T>A rs2536177478
NM_138694.4(PKHD1):c.7486+1G>T rs1554282419
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro) rs1775360219
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys) rs886042259
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg) rs768265052
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.779-1G>A rs2533509237
NM_138694.4(PKHD1):c.779-2A>G rs2128224166
NM_138694.4(PKHD1):c.790G>A (p.Val264Met) rs1809647915
NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn) rs2535688296
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro) rs778592523
NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly) rs886061616
NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser) rs768660365
NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu) rs768660365
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) rs1771471295
NM_138694.4(PKHD1):c.8102_8107+8del rs2151627285
NM_138694.4(PKHD1):c.8173+2T>G rs2151549200
NM_138694.4(PKHD1):c.8174-2A>G rs1582925274
NM_138694.4(PKHD1):c.8174-2A>T rs1582925274
NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg) rs764880309
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala) rs1793719203
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.8440+1G>A rs1793689014
NM_138694.4(PKHD1):c.8441-1G>A rs1484189435
NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile) rs375145340
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro) rs1790936941
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs) rs746625317
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8555-1G>A rs1191618494
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs) rs1582479341
NM_138694.4(PKHD1):c.8797+1G>A rs2151020151
NM_138694.4(PKHD1):c.880+1G>A rs1582064292
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu) rs1582469538
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met) rs1453006216
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.8950+1G>A rs1351918391
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201
NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His) rs2533834965
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr) rs2533826606
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile) rs2533478138
NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn) rs2150983772
NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr) rs2533814675
NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys) rs2533812777
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg) rs2533808647
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9829+1G>A rs1273202231
NM_138694.4(PKHD1):c.9829+1dup rs1188399385
NM_138694.4(PKHD1):c.9830-2A>C rs890681861
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs) rs1785246943
NM_138694.4(PKHD1):c.9998+1G>A rs1554217691
NM_138694.4(PKHD1):c.9998+1G>T rs1554217691
NM_138694.4(PKHD1):c.9999-1G>A rs2150963039

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