ClinVar Miner

List of variants in gene PKHD1 studied for Polycystic kidney disease 4

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Gene type:
ClinVar version:
Total variants: 915
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_138694.4(PKHD1):c.2279+57A>G rs9395759 0.96175
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_138694.4(PKHD1):c.5909-46A>G rs1266889 0.70194
NM_138694.4(PKHD1):c.10156+22412C>T rs9349593 0.65024
NM_138694.4(PKHD1):c.8108-217C>T rs9474105 0.60763
NM_138694.4(PKHD1):c.8303-65C>A rs7765455 0.57777
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_138694.4(PKHD1):c.3629-32A>G rs2499480 0.46280
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_138694.4(PKHD1):c.8302+89A>T rs1571083 0.45590
NM_138694.4(PKHD1):c.8173+144G>A rs9474104 0.45513
NM_138694.4(PKHD1):c.282-41A>G rs1892274 0.43840
NM_138694.4(PKHD1):c.-84-47T>C rs9370097 0.43816
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_138694.4(PKHD1):c.667+57G>A rs17576809 0.41111
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_138694.4(PKHD1):c.2407+50C>T rs10948667 0.41035
NM_138694.4(PKHD1):c.602+67A>G rs3936986 0.41008
NM_138694.4(PKHD1):c.7215+102T>A rs4711985 0.39765
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7733+63C>T rs9382043 0.39367
NM_138694.4(PKHD1):c.7733+33C>T rs9382044 0.39361
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_138694.4(PKHD1):c.8441-32G>C rs3920621 0.33143
NM_138694.4(PKHD1):c.9998+49A>G rs2397060 0.32325
NM_138694.4(PKHD1):c.9998+175T>C rs35999523 0.30649
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_138694.4(PKHD1):c.8643-72C>T rs9370049 0.30583
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_138694.4(PKHD1):c.527+19T>C rs9474140 0.27509
NM_138694.4(PKHD1):c.8441-68T>C rs7775050 0.19022
NM_138694.4(PKHD1):c.6490+62A>G rs12196767 0.14660
NM_138694.4(PKHD1):c.11786-30C>T rs9395699 0.14058
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_138694.4(PKHD1):c.8173+101A>T rs55777546 0.09629
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_138694.4(PKHD1):c.8108-64G>A rs12523926 0.05318
NM_138694.4(PKHD1):c.527+51G>T rs62406055 0.05032
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_138694.4(PKHD1):c.1694-32C>G rs12196276 0.02096
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_138694.4(PKHD1):c.3097+15G>T rs376878007 0.00093
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_138694.4(PKHD1):c.11311-19C>G rs181140024 0.00052
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_138694.4(PKHD1):c.11310+13A>G rs191991777 0.00043
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_138694.4(PKHD1):c.8174-19A>T rs758233215 0.00028
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00022
NM_138694.4(PKHD1):c.3098-13G>A rs371242359 0.00022
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_138694.4(PKHD1):c.2821+10G>A rs367619854 0.00020
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478 0.00020
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074 0.00020
NM_138694.4(PKHD1):c.1603-19T>A rs201996881 0.00019
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136 0.00018
NM_138694.4(PKHD1):c.6490+8A>G rs201984652 0.00018
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=) rs150202544 0.00017
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552 0.00017
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956 0.00016
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551 0.00016
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_138694.4(PKHD1):c.8951-19G>A rs200025399 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr) rs145219220 0.00015
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00015
NM_138694.4(PKHD1):c.588G>A (p.Arg196=) rs201773743 0.00015
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp) rs756825030 0.00014
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) rs148300854 0.00013
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092 0.00012
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His) rs374233100 0.00011
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579 0.00011
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637 0.00010
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268 0.00010
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637 0.00009
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val) rs139742511 0.00009
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950 0.00009
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu) rs780849635 0.00009
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=) rs750130747 0.00009
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe) rs746561147 0.00009
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) rs369932370 0.00009
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln) rs370557603 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303 0.00008
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val) rs142608481 0.00007
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=) rs751244001 0.00007
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703 0.00007
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=) rs369801937 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr) rs776589273 0.00006
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg) rs761871204 0.00006
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro) rs139442289 0.00006
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr) rs373896034 0.00006
NM_138694.4(PKHD1):c.11506+14G>C rs371687822 0.00006
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) rs1443176251 0.00006
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu) rs200278368 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly) rs528966196 0.00006
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys) rs751529187 0.00006
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) rs374132086 0.00006
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val) rs146962673 0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) rs374869252 0.00006
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) rs200432861 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg) rs201824369 0.00005
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782 0.00005
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=) rs759939735 0.00005
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln) rs557773345 0.00005
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser) rs149293970 0.00005
NM_138694.4(PKHD1):c.5687C>T (p.Thr1896Met) rs140996978 0.00005
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070 0.00005
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met) rs776068047 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_138694.4(PKHD1):c.977-20G>A rs753880972 0.00005
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu) rs545701882 0.00004
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) rs201534300 0.00004
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=) rs754613918 0.00004
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val) rs781286941 0.00004
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) rs557361225 0.00004
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln) rs757182803 0.00004
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys) rs199846197 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met) rs564240823 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.2538C>T (p.His846=) rs775356491 0.00004
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) rs886042298 0.00004
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe) rs398124482 0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050 0.00004
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) rs201123815 0.00004
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile) rs147035447 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) rs146649894 0.00004
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg) rs1412045164 0.00004
NM_138694.4(PKHD1):c.5958C>T (p.His1986=) rs745388926 0.00004
NM_138694.4(PKHD1):c.630T>G (p.Leu210=) rs950789431 0.00004
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) rs375436864 0.00004
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=) rs747038764 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly) rs746000400 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu) rs775014599 0.00003
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143 0.00003
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg) rs755769277 0.00003
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=) rs1252381398 0.00003
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) rs727504094 0.00003
NM_138694.4(PKHD1):c.131-16C>T rs1174461021 0.00003
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp) rs139770251 0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294 0.00003
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly) rs145855006 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp) rs749170990 0.00003
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met) rs778864835 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=) rs778487042 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=) rs758960742 0.00003
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026 0.00003
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys) rs151108325 0.00003
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr) rs747072396 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) rs565528098 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=) rs781630151 0.00003
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser) rs1343246818 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=) rs774349380 0.00002
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=) rs1162292670 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.108G>A (p.Thr36=) rs779123303 0.00002
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=) rs1268794606 0.00002
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp) rs748017071 0.00002
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=) rs886043022 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=) rs140920157 0.00002
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp) rs769143280 0.00002
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val) rs979700489 0.00002
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val) rs774570785 0.00002
NM_138694.4(PKHD1):c.3629-16C>T rs776260404 0.00002
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro) rs199643308 0.00002
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00002
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030 0.00002
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val) rs755286726 0.00002
NM_138694.4(PKHD1):c.6996+5G>A rs1232218253 0.00002
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn) rs749431123 0.00002
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=) rs753436694 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503 0.00002
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val) rs762313489 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp) rs757650951 0.00002
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881 0.00002
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=) rs200466480 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.10129G>A (p.Glu3377Lys) rs754382673 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=) rs375770253 0.00001
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=) rs562160590 0.00001
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637 0.00001
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612 0.00001
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162 0.00001
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=) rs758082610 0.00001
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) rs1206336265 0.00001
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.11398+2T>C rs754038777 0.00001
NM_138694.4(PKHD1):c.11399-1G>A rs1183281205 0.00001
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) rs746471701 0.00001
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs) rs747170980 0.00001
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter) rs1295732689 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11786-3C>A rs746467881 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter) rs780097121 0.00001
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys) rs531466080 0.00001
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg) rs778545068 0.00001
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=) rs757125119 0.00001
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys) rs1347911533 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.1510C>T (p.Gln504Ter) rs759322460 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.1917A>T (p.Val639=) rs1192699542 0.00001
NM_138694.4(PKHD1):c.193G>A (p.Val65Met) rs749853418 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651 0.00001
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=) rs769144028 0.00001
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) rs377415956 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.2280-4A>T rs549804372 0.00001
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs) rs767737392 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.2377C>T (p.Arg793Cys) rs779653146 0.00001
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val) rs546401927 0.00001
NM_138694.4(PKHD1):c.2593-10A>G rs1050450962 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2821+2T>C rs1394431107 0.00001
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met) rs530600526 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln) rs899785229 0.00001
NM_138694.4(PKHD1):c.3229-7T>G rs780401384 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780 0.00001
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713 0.00001
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443 0.00001
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) rs727504096 0.00001
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln) rs764940559 0.00001
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=) rs150985194 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val) rs112182862 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg) rs759930967 0.00001
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) rs771702541 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter) rs1350620976 0.00001
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=) rs556583531 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674 0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689 0.00001
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=) rs1241103975 0.00001
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=) rs535128714 0.00001
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=) rs1355951747 0.00001
NM_138694.4(PKHD1):c.56G>A (p.Arg19His) rs1375765328 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=) rs1167596697 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00001
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala) rs1283289447 0.00001
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958 0.00001
NM_138694.4(PKHD1):c.657C>T (p.Gly219=) rs189345248 0.00001
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr) rs1376315113 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=) rs1315333212 0.00001
NM_138694.4(PKHD1):c.6808+1G>T rs1217968843 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val) rs748865599 0.00001
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588 0.00001
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter) rs794727680 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met) rs201173272 0.00001
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly) rs747117144 0.00001
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe) rs202008567 0.00001
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=) rs746499996 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.7940C>T (p.Pro2647Leu) rs1448998543 0.00001
NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu) rs776654447 0.00001
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947 0.00001
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln) rs778592523 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly) rs775472136 0.00001
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg) rs1185197350 0.00001
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp) rs754533251 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=) rs756431455 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu) rs746096431 0.00001
NM_138694.4(PKHD1):c.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.8629del (p.Ser2877fs) rs779168950 0.00001
NM_138694.4(PKHD1):c.8642+1G>A rs1485161784 0.00001
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr) rs193185189 0.00001
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=) rs1418482955 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val) rs773010322 0.00001
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile) rs768138709 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 0.00001
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu) rs141912421 0.00001
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=) rs764734730 0.00001
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) rs769571577 0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) rs757946548 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys) rs957419550 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter) rs758732107 0.00001
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503 0.00001
NM_138694.4(PKHD1):c.9907del (p.Ser3303fs) rs1785247939 0.00001
NM_138694.3:c.(?_5909)_(12225_?)del
NM_138694.4(PKHD1):c.10073A>G (p.Asp3358Gly)
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.100G>A (p.Gly34Arg) rs2128244638
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro) rs2150962340
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10124_10125del (p.Glu3375fs)
NM_138694.4(PKHD1):c.10137_10152del (p.Ala3380fs)
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His) rs752841263
NM_138694.4(PKHD1):c.10160C>T (p.Thr3387Ile) rs2150418782
NM_138694.4(PKHD1):c.10168G>T (p.Glu3390Ter)
NM_138694.4(PKHD1):c.10180T>G (p.Cys3394Gly)
NM_138694.4(PKHD1):c.10265G>A (p.Trp3422Ter)
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
NM_138694.4(PKHD1):c.10384_10385del (p.Ile3462fs)
NM_138694.4(PKHD1):c.10399C>T (p.Gln3467Ter)
NM_138694.4(PKHD1):c.10436A>G (p.Gln3479Arg)
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10462A>T (p.Asn3488Tyr)
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) rs1581894231
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.1048_1049dup (p.Arg351fs)
NM_138694.4(PKHD1):c.1057C>T (p.Gln353Ter)
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=) rs2150414839
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10640T>C (p.Leu3547Pro) rs2150414704
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
NM_138694.4(PKHD1):c.10688T>A (p.Leu3563Ter)
NM_138694.4(PKHD1):c.10722dup (p.Gly3575fs)
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter) rs2150413999
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs) rs1195276132
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter) rs780182068
NM_138694.4(PKHD1):c.10845_10846dup (p.Ala3616fs)
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) rs1554183240
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) rs1554183235
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.10932G>T (p.Met3644Ile)
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs) rs765390756
NM_138694.4(PKHD1):c.10957_10958insG (p.Met3653fs) rs1772389754
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs) rs1057517047
NM_138694.4(PKHD1):c.10978A>T (p.Lys3660Ter)
NM_138694.4(PKHD1):c.11026G>T (p.Gly3676Ter)
NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=) rs1204544455
NM_138694.4(PKHD1):c.11059C>T (p.Gln3687Ter)
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11075G>A (p.Arg3692Gln)
NM_138694.4(PKHD1):c.11092C>T (p.Gln3698Ter)
NM_138694.4(PKHD1):c.11151_11154del (p.Ser3718fs)
NM_138694.4(PKHD1):c.1119-2A>G
NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter) rs1020902474
NM_138694.4(PKHD1):c.11310+1G>C rs1365407882
NM_138694.4(PKHD1):c.11310+3A>G rs1271798139
NM_138694.4(PKHD1):c.11312_11324del (p.Asn3771fs)
NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)
NM_138694.4(PKHD1):c.11352G>A (p.Trp3784Ter)
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val) rs1299129734
NM_138694.4(PKHD1):c.11387C>A (p.Ser3796Ter)
NM_138694.4(PKHD1):c.11395A>T (p.Lys3799Ter)
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter) rs1215290114
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
NM_138694.4(PKHD1):c.1145C>T (p.Ala382Val)
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter) rs2150329160
NM_138694.4(PKHD1):c.11533C>A (p.Pro3845Thr)
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser) rs548244367
NM_138694.4(PKHD1):c.11666-2A>G
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11770_11771dup (p.Val3925fs)
NM_138694.4(PKHD1):c.11770del (p.Thr3924fs)
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11785+1_11785+35del rs761547193
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=) rs779069598
NM_138694.4(PKHD1):c.11840T>C (p.Met3947Thr)
NM_138694.4(PKHD1):c.1189C>T (p.Gln397Ter)
NM_138694.4(PKHD1):c.11920G>A (p.Gly3974Ser) rs2150241066
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=) rs2150241037
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter)
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
NM_138694.4(PKHD1):c.1216del (p.Glu406fs)
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) rs1808421350
NM_138694.4(PKHD1):c.1231A>G (p.Lys411Glu)
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter)
NM_138694.4(PKHD1):c.1303G>C (p.Gly435Arg) rs763244593
NM_138694.4(PKHD1):c.131-2A>T
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=) rs1393535530
NM_138694.4(PKHD1):c.1396G>A (p.Gly466Arg)
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.1474C>T (p.Gln492Ter)
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup) rs1554217514
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
NM_138694.4(PKHD1):c.1497del (p.Arg499fs)
NM_138694.4(PKHD1):c.1529del (p.Gly510fs) rs1807855713
NM_138694.4(PKHD1):c.1597_1598insG (p.His533fs)
NM_138694.4(PKHD1):c.1602+1G>A rs398124476
NM_138694.4(PKHD1):c.1603-14_1603-13del rs748577508
NM_138694.4(PKHD1):c.1616T>C (p.Ile539Thr)
NM_138694.4(PKHD1):c.1617del (p.Ile539fs)
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs) rs1554216499
NM_138694.4(PKHD1):c.1625T>A (p.Leu542Ter)
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs) rs777295562
NM_138694.4(PKHD1):c.1626del (p.Leu542fs)
NM_138694.4(PKHD1):c.1628T>C (p.Leu543Pro)
NM_138694.4(PKHD1):c.1660_1661insA (p.Ser554fs)
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)
NM_138694.4(PKHD1):c.1693+1G>T rs2128209217
NM_138694.4(PKHD1):c.1693+2T>C
NM_138694.4(PKHD1):c.1700_1704dup (p.Ser569fs)
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
NM_138694.4(PKHD1):c.1747T>A (p.Cys583Ser)
NM_138694.4(PKHD1):c.179_182delinsGACGT (p.Ile60fs)
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1846_1848delinsT (p.Ala616fs)
NM_138694.4(PKHD1):c.1854del (p.Gly619fs) rs1807328785
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1867A>T (p.Lys623Ter)
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.1900G>A (p.Gly634Ser)
NM_138694.4(PKHD1):c.1910del (p.Asn637fs)
NM_138694.4(PKHD1):c.1954_1957dup (p.Pro653fs)
NM_138694.4(PKHD1):c.1964+2T>C
NM_138694.4(PKHD1):c.1965-1G>T
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter) rs2128203862
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu) rs144455663
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg)
NM_138694.4(PKHD1):c.2172del (p.Gly726fs) rs1806601043
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs) rs2128196889
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)
NM_138694.4(PKHD1):c.2188delinsTA (p.Glu730Ter) rs2128196788
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) rs1057516608
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=) rs373367366
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.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2474_2475insTGGC (p.Ser826fs)
NM_138694.4(PKHD1):c.2503_2504del (p.Thr835fs)
NM_138694.4(PKHD1):c.2532C>G (p.Tyr844Ter)
NM_138694.4(PKHD1):c.257del (p.Leu86fs)
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.2648_2649del (p.Val882_Tyr883insTer)
NM_138694.4(PKHD1):c.2664del (p.Gly890fs) rs2128186439
NM_138694.4(PKHD1):c.2681del (p.Gly894fs)
NM_138694.4(PKHD1):c.2715+1G>A
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter)
NM_138694.4(PKHD1):c.2799_2809del (p.His934fs)
NM_138694.4(PKHD1):c.281+1G>A rs1582154630
NM_138694.4(PKHD1):c.281+2T>G
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.282-1G>T
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.2822-1G>C rs1554208257
NM_138694.4(PKHD1):c.2850del (p.Thr951fs)
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter) rs773136605
NM_138694.4(PKHD1):c.2887C>T (p.Gln963Ter)
NM_138694.4(PKHD1):c.2916_2917insTGCCGTCTTCTGC (p.Val973fs)
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.2941_2943delinsCT (p.Val981fs)
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr) rs1554208064
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg) rs794727447
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys) rs2128182593
NM_138694.4(PKHD1):c.2998A>T (p.Arg1000Ter)
NM_138694.4(PKHD1):c.304G>T (p.Glu102Ter)
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
NM_138694.4(PKHD1):c.3062del (p.Leu1021fs)
NM_138694.4(PKHD1):c.3079del (p.Ser1027fs)
NM_138694.4(PKHD1):c.3082A>T (p.Arg1028Ter)
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.3140_3141del (p.Val1047fs)
NM_138694.4(PKHD1):c.3165C>G (p.Tyr1055Ter)
NM_138694.4(PKHD1):c.3170G>A (p.Cys1057Tyr)
NM_138694.4(PKHD1):c.3192C>A (p.Ser1064Arg)
NM_138694.4(PKHD1):c.3228+1G>T rs868673401
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3259G>A (p.Val1087Met) rs372422063
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.3363_3364insATATA (p.Gly1122delinsIleTer)
NM_138694.4(PKHD1):c.3364+1G>T
NM_138694.4(PKHD1):c.3365-3C>T rs2128153381
NM_138694.4(PKHD1):c.3369_3370del (p.Glu1124fs)
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala) rs144365187
NM_138694.4(PKHD1):c.3404_3413del (p.Asn1135fs)
NM_138694.4(PKHD1):c.3421del (p.Val1141fs)
NM_138694.4(PKHD1):c.3497del (p.Pro1166fs)
NM_138694.4(PKHD1):c.349del (p.Ser117fs)
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs) rs2128152615
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu) rs1581827172
NM_138694.4(PKHD1):c.3548_3557del (p.Ile1183fs)
NM_138694.4(PKHD1):c.3560+1G>T
NM_138694.4(PKHD1):c.3561-1G>A rs1802457333
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter)
NM_138694.4(PKHD1):c.3643A>G (p.Ser1215Gly) rs752105357
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3707C>T (p.Ser1236Phe) rs542983527
NM_138694.4(PKHD1):c.3726_3727del (p.Leu1242fs)
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu) rs140815495
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val) rs140815495
NM_138694.4(PKHD1):c.3743G>A (p.Trp1248Ter)
NM_138694.4(PKHD1):c.3752_3753insTT (p.Leu1252fs)
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3830_3843dup (p.Pro1282fs)
NM_138694.4(PKHD1):c.3864dup (p.Lys1289fs)
NM_138694.4(PKHD1):c.3886_3887del (p.Glu1296fs)
NM_138694.4(PKHD1):c.390+1G>A rs752327566
NM_138694.4(PKHD1):c.3932_3933del (p.Thr1311fs)
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3946_3947del (p.Ser1316fs)
NM_138694.4(PKHD1):c.4002_4003del (p.Asn1335fs)
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs)
NM_138694.4(PKHD1):c.4017_4018del (p.Glu1339fs)
NM_138694.4(PKHD1):c.407dup (p.Pro137fs)
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs) rs1581810497
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4155del (p.Phe1385fs)
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=) rs756553815
NM_138694.4(PKHD1):c.421del (p.Gln141fs)
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe) rs565836750
NM_138694.4(PKHD1):c.4274T>G (p.Leu1425Arg)
NM_138694.4(PKHD1):c.4293T>A (p.Cys1431Ter)
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter) rs1811318008
NM_138694.4(PKHD1):c.4347_4348del (p.Asp1450fs)
NM_138694.4(PKHD1):c.4361del (p.Gly1454fs)
NM_138694.4(PKHD1):c.4414_4418del (p.Cys1472fs)
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.4428C>A (p.Cys1476Ter)
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_138694.4(PKHD1):c.4481del (p.Asn1494fs) rs1801988386
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.453del (p.Lys151fs)
NM_138694.4(PKHD1):c.470dup (p.Trp158fs) rs2128233941
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile) rs932913425
NM_138694.4(PKHD1):c.514_515delinsT (p.Glu172fs)
NM_138694.4(PKHD1):c.519C>A (p.Tyr173Ter)
NM_138694.4(PKHD1):c.5249del (p.Gly1750fs)
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.528-2A>G
NM_138694.4(PKHD1):c.528-9del rs753686281
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
NM_138694.4(PKHD1):c.5355_5356del (p.Phe1785fs)
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu) rs1288521396
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=) rs758616921
NM_138694.4(PKHD1):c.5380+1G>C
NM_138694.4(PKHD1):c.538_542delinsC (p.Leu180fs)
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter)
NM_138694.4(PKHD1):c.5425T>G (p.Cys1809Gly) rs1800745753
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr) rs1800745257
NM_138694.4(PKHD1):c.5476del (p.Ala1826fs)
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter) rs2128231908
NM_138694.4(PKHD1):c.5480C>T (p.Thr1827Ile)
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5600+1G>A rs1581763359
NM_138694.4(PKHD1):c.5609T>A (p.Leu1870Ter)
NM_138694.4(PKHD1):c.5611G>T (p.Glu1871Ter)
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
NM_138694.4(PKHD1):c.5663_5666del (p.Thr1888fs)
NM_138694.4(PKHD1):c.5699_5706del (p.Pro1900fs)
NM_138694.4(PKHD1):c.5738del (p.Gly1913fs)
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5751+2T>G
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp) rs543037335
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
NM_138694.4(PKHD1):c.5786C>G (p.Ser1929Cys) rs1791759592
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe) rs1791759592
NM_138694.4(PKHD1):c.5792del (p.Thr1931fs)
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
NM_138694.4(PKHD1):c.5801G>T (p.Trp1934Leu)
NM_138694.4(PKHD1):c.5808_5809del (p.Glu1937fs)
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.5965dup (p.Leu1989fs)
NM_138694.4(PKHD1):c.5977G>T (p.Gly1993Cys)
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr) rs1210348558
NM_138694.4(PKHD1):c.6007_6008insGTGTGATCTG (p.Lys2003delinsSerValIleTer)
NM_138694.4(PKHD1):c.602+1G>A rs1554223950
NM_138694.4(PKHD1):c.602+5G>A
NM_138694.4(PKHD1):c.6054C>G (p.Tyr2018Ter)
NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile)
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
NM_138694.4(PKHD1):c.6125C>A (p.Ser2042Ter)
NM_138694.4(PKHD1):c.6125del (p.Ser2042fs)
NM_138694.4(PKHD1):c.6147delinsAGATGTGTATAAGAGCAG (p.Cys2050fs)
NM_138694.4(PKHD1):c.6187del (p.Ala2063fs)
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)
NM_138694.4(PKHD1):c.6209G>A (p.Trp2070Ter)
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)
NM_138694.4(PKHD1):c.6273_6285delinsGAG (p.Glu2092fs)
NM_138694.4(PKHD1):c.6284_6285insAGATG (p.Val2096fs)
NM_138694.4(PKHD1):c.6285del (p.Val2096fs)
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6311T>G (p.Leu2104Arg)
NM_138694.4(PKHD1):c.6312_6313del (p.Tyr2105fs)
NM_138694.4(PKHD1):c.6319_6321delinsT (p.Lys2107fs)
NM_138694.4(PKHD1):c.6332+1G>A
NM_138694.4(PKHD1):c.6332+3A>C
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-2A>G
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer) rs1405067373
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs) rs1783005266
NM_138694.4(PKHD1):c.6395_6396del (p.Val2132fs)
NM_138694.4(PKHD1):c.6410_6423del (p.Arg2137fs) rs2127663896
NM_138694.4(PKHD1):c.6427G>A (p.Gly2143Arg)
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs)
NM_138694.4(PKHD1):c.6469C>T (p.Gln2157Ter)
NM_138694.4(PKHD1):c.6603del (p.Lys2202fs)
NM_138694.4(PKHD1):c.6617_6620delinsATAAAGACAGT (p.Phe2206fs)
NM_138694.4(PKHD1):c.6619_6620del (p.Gln2207fs)
NM_138694.4(PKHD1):c.661del (p.Tyr221fs)
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) rs369925690
NM_138694.4(PKHD1):c.6667_6668delinsTGA (p.Val2223Ter)
NM_138694.4(PKHD1):c.6683-2A>G
NM_138694.4(PKHD1):c.6702C>A (p.Cys2234Ter)
NM_138694.4(PKHD1):c.674A>G (p.Gln225Arg) rs749690371
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=) rs900150542
NM_138694.4(PKHD1):c.6776del (p.Phe2259fs)
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
NM_138694.4(PKHD1):c.6818C>T (p.Thr2273Met)
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter) rs1583295819
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs) rs760921148
NM_138694.4(PKHD1):c.6865+1G>A
NM_138694.4(PKHD1):c.6865+2T>C
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.6870G>A (p.Trp2290Ter)
NM_138694.4(PKHD1):c.6898A>G (p.Asn2300Asp) rs2127622765
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) rs373795139
NM_138694.4(PKHD1):c.6952A>C (p.Thr2318Pro) rs2127622153
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
NM_138694.4(PKHD1):c.700A>T (p.Lys234Ter)
NM_138694.4(PKHD1):c.7012G>C (p.Gly2338Arg) rs2127557145
NM_138694.4(PKHD1):c.703_704insATAAA (p.Gly235fs)
NM_138694.4(PKHD1):c.7060C>T (p.Gln2354Ter)
NM_138694.4(PKHD1):c.7060_7061del (p.Gln2354fs)
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs) rs1583203255
NM_138694.4(PKHD1):c.707+143A>C rs4711996
NM_138694.4(PKHD1):c.7081_7082del (p.Thr2361fs)
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter) rs1057516221
NM_138694.4(PKHD1):c.7103G>T (p.Cys2368Phe)
NM_138694.4(PKHD1):c.7108del (p.Arg2370fs)
NM_138694.4(PKHD1):c.7109+2T>A
NM_138694.4(PKHD1):c.7109+3A>C rs1583202788
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs) rs1554289495
NM_138694.4(PKHD1):c.7128C>G (p.Tyr2376Ter)
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter) rs757590581
NM_138694.4(PKHD1):c.7159_7160del (p.Thr2387fs)
NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs) rs2127551949
NM_138694.4(PKHD1):c.7215+1G>T
NM_138694.4(PKHD1):c.7218delinsGTGTATAAGAGACAG (p.Ile2406fs)
NM_138694.4(PKHD1):c.7251_7252delinsT (p.Val2419fs)
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7300del (p.Ala2434fs)
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) rs753450358
NM_138694.4(PKHD1):c.7310C>A (p.Ser2437Ter)
NM_138694.4(PKHD1):c.7311delinsTT (p.Val2438fs)
NM_138694.4(PKHD1):c.7325T>A (p.Leu2442Ter)
NM_138694.4(PKHD1):c.7328T>A (p.Leu2443Ter)
NM_138694.4(PKHD1):c.7348A>T (p.Lys2450Ter)
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7378A>T (p.Lys2460Ter)
NM_138694.4(PKHD1):c.7393_7404delinsGACA (p.Trp2465fs)
NM_138694.4(PKHD1):c.7394G>A (p.Trp2465Ter) rs2151778258
NM_138694.4(PKHD1):c.7396G>T (p.Glu2466Ter)
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)
NM_138694.4(PKHD1):c.7450G>T (p.Ala2484Ser)
NM_138694.4(PKHD1):c.7466C>G (p.Ser2489Ter)
NM_138694.4(PKHD1):c.7486+41C>A rs982874
NM_138694.4(PKHD1):c.7486G>A (p.Gly2496Ser)
NM_138694.4(PKHD1):c.7487-1G>C
NM_138694.4(PKHD1):c.7512_7522del (p.Gln2504fs)
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter) rs769645972
NM_138694.4(PKHD1):c.7514T>G (p.Leu2505Trp) rs769645972
NM_138694.4(PKHD1):c.7531_7532del (p.Ser2511fs)
NM_138694.4(PKHD1):c.7591_7592del (p.Leu2531fs)
NM_138694.4(PKHD1):c.7608_7609insGACCCATCCA (p.Ser2537fs)
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs) rs1775351921
NM_138694.4(PKHD1):c.7661C>A (p.Ser2554Ter) rs1775347142
NM_138694.4(PKHD1):c.7680_7681del (p.His2561fs)
NM_138694.4(PKHD1):c.7713del (p.His2572fs) rs1057517078
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs) rs797044745
NM_138694.4(PKHD1):c.7721dup (p.Met2574fs)
NM_138694.4(PKHD1):c.7733+1G>C
NM_138694.4(PKHD1):c.7734-27_7734-26dup rs201176305
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile) rs748895723
NM_138694.4(PKHD1):c.7758T>A (p.Tyr2586Ter)
NM_138694.4(PKHD1):c.776C>G (p.Ser259Ter)
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.779-25dup rs5876252
NM_138694.4(PKHD1):c.7893dup (p.Ile2632fs)
NM_138694.4(PKHD1):c.7912-2A>G rs1554271235
NM_138694.4(PKHD1):c.7929del (p.Asp2643fs)
NM_138694.4(PKHD1):c.792_793del (p.Phe265fs)
NM_138694.4(PKHD1):c.7946A>T (p.Asn2649Ile) rs2151628916
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) rs1583013487
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
NM_138694.4(PKHD1):c.7_19del (p.Ala3fs)
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro) rs778592523
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs) rs1771488619
NM_138694.4(PKHD1):c.8028del (p.Pro2677fs)
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter) rs768660365
NM_138694.4(PKHD1):c.8089_8090del (p.Arg2697fs)
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) rs1771471295
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs) rs774050795
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter) rs1473182306
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8162dup (p.Thr2722fs)
NM_138694.4(PKHD1):c.8174-2A>T rs1582925274
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter) rs2151512212
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter) rs2151512054
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs) rs2151512076
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8241del (p.Gly2748fs)
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) rs1562410143
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946
NM_138694.4(PKHD1):c.831_836del (p.277IT[1])
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter) rs2128223990
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8578del (p.Tyr2860fs)
NM_138694.4(PKHD1):c.8589T>A (p.Tyr2863Ter)
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8604del (p.Ser2867_Trp2868insTer)
NM_138694.4(PKHD1):c.8641A>T (p.Arg2881Ter)
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu) rs1786704837
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.8785_8786insCTT (p.His2929delinsProTyr)
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser) rs1582469785
NM_138694.4(PKHD1):c.8846_8847del (p.Glu2949fs)
NM_138694.4(PKHD1):c.8856del (p.Leu2952_Leu2953insTer)
NM_138694.4(PKHD1):c.8861C>T (p.Thr2954Ile)
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter) rs1229564017
NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln)
NM_138694.4(PKHD1):c.8899G>A (p.Gly2967Arg)
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs) rs1473686155
NM_138694.4(PKHD1):c.8926A>T (p.Lys2976Ter)
NM_138694.4(PKHD1):c.8932del (p.Ser2978fs)
NM_138694.4(PKHD1):c.8948C>A (p.Ser2983Ter)
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.8987dup (p.Gly2997fs)
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.9003C>A (p.Tyr3001Ter)
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter) rs775628123
NM_138694.4(PKHD1):c.9005C>A (p.Ser3002Ter)
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp) rs1444969670
NM_138694.4(PKHD1):c.9148G>T (p.Gly3050Cys)
NM_138694.4(PKHD1):c.9166C>T (p.Gln3056Ter)
NM_138694.4(PKHD1):c.9169del (p.Ala3057fs)
NM_138694.4(PKHD1):c.9171del (p.Tyr3058fs)
NM_138694.4(PKHD1):c.9230G>A (p.Trp3077Ter) rs1250269841
NM_138694.4(PKHD1):c.925T>C (p.Cys309Arg)
NM_138694.4(PKHD1):c.926G>C (p.Cys309Ser)
NM_138694.4(PKHD1):c.9288_9290del (p.Ala3097del) rs2150985143
NM_138694.4(PKHD1):c.9289G>A (p.Ala3097Thr)
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9345del (p.Glu3115fs)
NM_138694.4(PKHD1):c.9353G>A (p.Trp3118Ter)
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666
NM_138694.4(PKHD1):c.93C>A (p.Ser31Arg)
NM_138694.4(PKHD1):c.9455del (p.Asn3152fs)
NM_138694.4(PKHD1):c.9540_9543delinsTTT (p.Leu3180fs)
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9568C>T (p.Gln3190Ter)
NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs)
NM_138694.4(PKHD1):c.9600del (p.Arg3201fs)
NM_138694.4(PKHD1):c.9614T>C (p.Ile3205Thr)
NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg) rs1785450007
NM_138694.4(PKHD1):c.9653_9654del (p.Lys3218fs)
NM_138694.4(PKHD1):c.9656_9657del (p.Val3219fs)
NM_138694.4(PKHD1):c.9693A>C (p.Arg3231Ser) rs1194740215
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9715G>A (p.Gly3239Ser)
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540
NM_138694.4(PKHD1):c.9739G>C (p.Val3247Leu) rs2150981332
NM_138694.4(PKHD1):c.977-2A>G
NM_138694.4(PKHD1):c.9825del (p.Gln3276fs)
NM_138694.4(PKHD1):c.9830-18_9842del
NM_138694.4(PKHD1):c.9830-1G>A
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9834del (p.Thr3279fs)
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg) rs1307732644
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
NM_138694.4(PKHD1):c.9969del (p.Asn3323fs)
NM_138694.4(PKHD1):c.9970A>G (p.Lys3324Glu) rs1785240656
NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del)
NM_138694.4(PKHD1):c.9974del (p.Phe3325fs)
NM_138694.4(PKHD1):c.9998+1G>T rs1554217691
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563
NM_138694.4(PKHD1):c.9999-1G>A rs2150963039

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