ClinVar Miner

List of variants reported as likely pathogenic for Polycystic kidney disease 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 472
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950 0.00009
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.4870C>T (p.Arg1624Trp) rs200391019 0.00006
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.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 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.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.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.9338del (p.Ser3113fs) rs1388716999 0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 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.5513A>G (p.Tyr1838Cys) rs777999875 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11399-1G>A rs1183281205 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.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter) rs759322460 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.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718 0.00001
NM_138694.4(PKHD1):c.2821+2T>C rs1394431107 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.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr) rs375437755 0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 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.667G>A (p.Gly223Ser) rs749454235 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.7194G>A (p.Trp2398Ter) rs794727680 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 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.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.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_138694.4(PKHD1):c.9907del (p.Ser3303fs) rs1785247939 0.00001
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
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.10168G>T (p.Glu3390Ter)
NM_138694.4(PKHD1):c.10265G>A (p.Trp3422Ter)
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
NM_138694.4(PKHD1):c.10334del (p.Asn3445fs) rs2150417202
NM_138694.4(PKHD1):c.10384_10385del (p.Ile3462fs)
NM_138694.4(PKHD1):c.10393_10394insG (p.Ile3465fs)
NM_138694.4(PKHD1):c.10399C>T (p.Gln3467Ter)
NM_138694.4(PKHD1):c.10426C>T (p.Gln3476Ter)
NM_138694.4(PKHD1):c.10481_10503del (p.Leu3494fs)
NM_138694.4(PKHD1):c.1048_1049dup (p.Arg351fs)
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.10845_10846dup (p.Ala3616fs)
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) rs1554183240
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.10937C>G (p.Ser3646Ter)
NM_138694.4(PKHD1):c.10940dup (p.His3647fs)
NM_138694.4(PKHD1):c.10957_10958insG (p.Met3653fs) rs1772389754
NM_138694.4(PKHD1):c.10978A>T (p.Lys3660Ter)
NM_138694.4(PKHD1):c.11059C>T (p.Gln3687Ter)
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
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.11308C>T (p.Gln3770Ter)
NM_138694.4(PKHD1):c.11310+1G>C rs1365407882
NM_138694.4(PKHD1):c.11312_11324del (p.Asn3771fs)
NM_138694.4(PKHD1):c.11313_11317del
NM_138694.4(PKHD1):c.11352G>A (p.Trp3784Ter)
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.11425G>A (p.Gly3809Ser) rs1363452328
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
NM_138694.4(PKHD1):c.11600del (p.Ser3867fs)
NM_138694.4(PKHD1):c.11666-2A>G
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.1189C>T (p.Gln397Ter)
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.1272G>A (p.Trp424Ter)
NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter)
NM_138694.4(PKHD1):c.131-2A>T
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.1492del (p.Gln498fs)
NM_138694.4(PKHD1):c.1497del (p.Arg499fs)
NM_138694.4(PKHD1):c.1553G>A (p.Trp518Ter)
NM_138694.4(PKHD1):c.1597_1598insG (p.His533fs)
NM_138694.4(PKHD1):c.1602+1G>A rs398124476
NM_138694.4(PKHD1):c.1616T>C (p.Ile539Thr)
NM_138694.4(PKHD1):c.1617del (p.Ile539fs)
NM_138694.4(PKHD1):c.1625T>A (p.Leu542Ter)
NM_138694.4(PKHD1):c.1626del (p.Leu542fs)
NM_138694.4(PKHD1):c.1644del (p.Lys548fs)
NM_138694.4(PKHD1):c.1660_1661insA (p.Ser554fs)
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.179_182delinsGACGT (p.Ile60fs)
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1846_1848delinsT (p.Ala616fs)
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1867A>T (p.Lys623Ter)
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.1965-2A>C
NM_138694.4(PKHD1):c.2023C>T (p.Gln675Ter)
NM_138694.4(PKHD1):c.2057A>C (p.His686Pro)
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.2188delinsTA (p.Glu730Ter) rs2128196788
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.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2302G>T (p.Glu768Ter)
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.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.2941_2943delinsCT (p.Val981fs)
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.2998A>T (p.Arg1000Ter)
NM_138694.4(PKHD1):c.304G>T (p.Glu102Ter)
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.3089C>A (p.Ala1030Glu)
NM_138694.4(PKHD1):c.3140_3141del (p.Val1047fs)
NM_138694.4(PKHD1):c.3165C>G (p.Tyr1055Ter)
NM_138694.4(PKHD1):c.3228+1G>A
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.3350_3351del (p.Ile1117fs)
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.3404_3413del (p.Asn1135fs)
NM_138694.4(PKHD1):c.3421del (p.Val1141fs)
NM_138694.4(PKHD1):c.3479dup (p.Glu1161fs)
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.3577C>T (p.Gln1193Ter)
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter)
NM_138694.4(PKHD1):c.3634dup (p.Thr1212fs)
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3726_3727del (p.Leu1242fs)
NM_138694.4(PKHD1):c.3743G>A (p.Trp1248Ter)
NM_138694.4(PKHD1):c.3752_3753insTT (p.Leu1252fs)
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs) rs2128146668
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.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.4075_4078dup (p.Glu1360fs)
NM_138694.4(PKHD1):c.407dup (p.Pro137fs)
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.421del (p.Gln141fs)
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
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.4418_4419del (p.Gln1473fs)
NM_138694.4(PKHD1):c.4428C>A (p.Cys1476Ter)
NM_138694.4(PKHD1):c.449-1G>T
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.4537_4563delinsA (p.Ala1513fs)
NM_138694.4(PKHD1):c.453del (p.Lys151fs)
NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter) rs1433540169
NM_138694.4(PKHD1):c.4593del (p.Phe1531fs)
NM_138694.4(PKHD1):c.4643_4644del (p.His1548fs)
NM_138694.4(PKHD1):c.4644_4653del (p.His1548fs)
NM_138694.4(PKHD1):c.4649del (p.Leu1550fs)
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) rs1801949246
NM_138694.4(PKHD1):c.4677T>A (p.Tyr1559Ter)
NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr)
NM_138694.4(PKHD1):c.4698del (p.Arg1567fs)
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer) rs1057516626
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs) rs2128142414
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs) rs1057516885
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs) rs2128142132
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5081_5094del (p.Gly1694fs)
NM_138694.4(PKHD1):c.5115_5116insTATAAGAGACA (p.Val1706fs)
NM_138694.4(PKHD1):c.5116_5117insCATTTCTTATT (p.Val1706fs)
NM_138694.4(PKHD1):c.514_515delinsT (p.Glu172fs)
NM_138694.4(PKHD1):c.5151del (p.Gly1718fs)
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
NM_138694.4(PKHD1):c.5199del (p.Ser1734fs)
NM_138694.4(PKHD1):c.519C>A (p.Tyr173Ter)
NM_138694.4(PKHD1):c.5204delinsTGTCTT (p.Arg1735fs)
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His) rs2128141336
NM_138694.4(PKHD1):c.5236+1G>C
NM_138694.4(PKHD1):c.5249del (p.Gly1750fs)
NM_138694.4(PKHD1):c.527+1G>C
NM_138694.4(PKHD1):c.528-1G>T
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
NM_138694.4(PKHD1):c.5355_5356del (p.Phe1785fs)
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.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.5783G>A (p.Trp1928Ter)
NM_138694.4(PKHD1):c.5792del (p.Thr1931fs)
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
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.5909-46_5943del rs2127769312
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.5962_6010dup (p.Pro2004delinsHisProCysPheTer)
NM_138694.4(PKHD1):c.5965dup (p.Leu1989fs)
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+5G>A
NM_138694.4(PKHD1):c.6049del (p.Ser2017fs)
NM_138694.4(PKHD1):c.6054C>G (p.Tyr2018Ter)
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.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.6312_6313del (p.Tyr2105fs)
NM_138694.4(PKHD1):c.6319_6321delinsT (p.Lys2107fs)
NM_138694.4(PKHD1):c.6323C>A (p.Ser2108Ter)
NM_138694.4(PKHD1):c.6332+1G>A
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
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.6592C>T (p.Gln2198Ter)
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.6630dup (p.Gln2211fs)
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.6758del (p.Lys2253fs)
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.6861del (p.Asp2288fs) rs760921148
NM_138694.4(PKHD1):c.6865+2T>C
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6870G>A (p.Trp2290Ter)
NM_138694.4(PKHD1):c.6952A>C (p.Thr2318Pro) rs2127622153
NM_138694.4(PKHD1):c.6996+4A>T
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
NM_138694.4(PKHD1):c.700A>T (p.Lys234Ter)
NM_138694.4(PKHD1):c.703_704insATAAA (p.Gly235fs)
NM_138694.4(PKHD1):c.7060_7061del (p.Gln2354fs)
NM_138694.4(PKHD1):c.7081_7082del (p.Thr2361fs)
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter) rs1057516221
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.7128C>G (p.Tyr2376Ter)
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.7289del (p.Leu2430fs)
NM_138694.4(PKHD1):c.7300del (p.Ala2434fs)
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.7466C>G (p.Ser2489Ter)
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.7531_7532del (p.Ser2511fs)
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) rs863224528
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.7721dup (p.Met2574fs)
NM_138694.4(PKHD1):c.7733+1G>C
NM_138694.4(PKHD1):c.7757_7761del (p.Tyr2586fs)
NM_138694.4(PKHD1):c.7758T>A (p.Tyr2586Ter)
NM_138694.4(PKHD1):c.7761_7771del (p.Asp2587_Leu2588insTer)
NM_138694.4(PKHD1):c.776C>G (p.Ser259Ter)
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.7876C>T (p.Gln2626Ter)
NM_138694.4(PKHD1):c.7893dup (p.Ile2632fs)
NM_138694.4(PKHD1):c.7929del (p.Asp2643fs)
NM_138694.4(PKHD1):c.792_793del (p.Phe265fs)
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) rs1583013487
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.8089_8090del (p.Arg2697fs)
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8162dup (p.Thr2722fs)
NM_138694.4(PKHD1):c.8174-1G>A
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.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8241del (p.Gly2748fs)
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
NM_138694.4(PKHD1):c.8441-2A>C
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.8555-2A>G rs1020621286
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.865del (p.Gln289fs)
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.8785_8786insCTT (p.His2929delinsProTyr)
NM_138694.4(PKHD1):c.8846_8847del (p.Glu2949fs)
NM_138694.4(PKHD1):c.8856del (p.Leu2952_Leu2953insTer)
NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln)
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.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.9217_9231del (p.Trp3073_Trp3077del)
NM_138694.4(PKHD1):c.9230G>A (p.Trp3077Ter) rs1250269841
NM_138694.4(PKHD1):c.9247_9257del (p.Val3083fs)
NM_138694.4(PKHD1):c.9288_9290del (p.Ala3097del) rs2150985143
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
NM_138694.4(PKHD1):c.9345del (p.Glu3115fs)
NM_138694.4(PKHD1):c.9353G>A (p.Trp3118Ter)
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666
NM_138694.4(PKHD1):c.9476T>G (p.Leu3159Ter)
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.9584_9585del (p.Lys3195fs)
NM_138694.4(PKHD1):c.9600del (p.Arg3201fs)
NM_138694.4(PKHD1):c.9653_9654del (p.Lys3218fs)
NM_138694.4(PKHD1):c.9656_9657del (p.Val3219fs)
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.977-2A>G
NM_138694.4(PKHD1):c.9829+1dup
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.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
NM_138694.4(PKHD1):c.9969del (p.Asn3323fs)
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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