ClinVar Miner

List of variants reported as pathogenic for cystic kidney disease by Invitae

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 561
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
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.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950 0.00009
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
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.8518C>T (p.Arg2840Cys) rs200432861 0.00006
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 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.6900C>T (p.Asn2300=) rs776060304 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.1774C>T (p.Arg592Ter) rs779050294 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.9338del (p.Ser3113fs) rs1388716999 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter) rs765934021 0.00002
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.5513A>G (p.Tyr1838Cys) rs777999875 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.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 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.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 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.1748G>A (p.Cys583Tyr) rs369292828 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.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 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.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.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 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.370C>T (p.Arg124Ter) rs727504096 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp) rs1278235097 0.00001
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter) rs1350620976 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.5323C>T (p.Arg1775Ter) rs770522674 0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00001
NM_138694.4(PKHD1):c.6808+1G>T rs1217968843 0.00001
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588 0.00001
NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter) rs1436814142 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.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947 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.8629del (p.Ser2877fs) rs779168950 0.00001
NM_138694.4(PKHD1):c.8642+1G>A rs1485161784 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.9296C>A (p.Ser3099Ter) rs757946548 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly) rs1477456222 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.982C>T (p.Arg328Ter) rs398124503 0.00001
NC_000004.11:g.(?_88896421)_(88979275_?)del
NC_000004.12:g.(?_88007714)_(88058123_?)del
NC_000004.12:g.(?_88007714)_(88075714_?)del
NC_000004.12:g.(?_88038231)_(88075714_?)del
NC_000006.11:g.(?_51483869)_(51949741_?)del
NC_000006.11:g.(?_51483879)_(51949731_?)del
NC_000006.11:g.(?_51523740)_(51524777_?)del
NC_000006.11:g.(?_51586774)_(51752053_?)del
NC_000006.11:g.(?_51611509)_(51611697_?)del
NC_000006.11:g.(?_51612575)_(51618161_?)del
NC_000006.11:g.(?_51612985)_(51637140_?)del
NC_000006.11:g.(?_51637490)_(51637597_?)del
NC_000006.11:g.(?_51637490)_(51640729_?)del
NC_000006.11:g.(?_51695649)_(51720878_?)del
NC_000006.11:g.(?_51701182)_(51701287_?)del
NC_000006.11:g.(?_51701192)_(51701277_?)del
NC_000006.11:g.(?_51732651)_(51752053_?)del
NC_000006.11:g.(?_51747238)_(51752053_?)del
NC_000006.11:g.(?_51924716)_(51924850_?)del
NC_000006.11:g.(?_51936903)_(51938349_?)del
NC_000006.11:g.(?_51949670)_(51949741_?)del
NC_000006.12:g.(?_51632545)_(51648138_?)del
NC_000006.12:g.(?_51959860)_(52010469_?)del
NC_000006.12:g.(?_52053066)_(52054175_?)del
NC_000006.12:g.(?_52055567)_(52055749_?)del
NC_000006.12:g.52082543del
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) rs2110107236
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs)
NM_000297.4(PKD2):c.1095-2A>T
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs) rs2110112083
NM_000297.4(PKD2):c.1205del (p.Thr402fs) rs2110112194
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter) rs1391596181
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter) rs1578135870
NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter) rs2110115819
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)
NM_000297.4(PKD2):c.152del (p.Gly51fs) rs1726229033
NM_000297.4(PKD2):c.1579_1580del (p.Tyr527fs) rs1553926509
NM_000297.4(PKD2):c.1678_1679del (p.Asn560fs)
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
NM_000297.4(PKD2):c.1925del (p.Gly642fs)
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.282del (p.Phe94fs)
NM_000297.4(PKD2):c.443del (p.Gly148fs) rs1560592253
NM_000297.4(PKD2):c.443dup (p.His149fs)
NM_000297.4(PKD2):c.473del (p.Glu158fs) rs1578111620
NM_000297.4(PKD2):c.514del (p.Asp172fs) rs1232369409
NM_000297.4(PKD2):c.595+1G>A rs1578111778
NM_000297.4(PKD2):c.595+2T>C rs1018717398
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) rs2110089248
NM_000297.4(PKD2):c.655_661del (p.Ser219fs)
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.816del (p.Leu273fs)
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_138694.3(PKHD1):c.8108-?_8173+?del
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs) rs1334145215
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter) rs2150962096
NM_138694.4(PKHD1):c.10228C>T (p.Gln3410Ter)
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.10334del (p.Asn3445fs) rs2150417202
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10392del (p.Ile3465fs) rs2150416702
NM_138694.4(PKHD1):c.10393_10394insG (p.Ile3465fs)
NM_138694.4(PKHD1):c.10411del (p.Val3471fs) rs1554183588
NM_138694.4(PKHD1):c.10443del (p.Leu3481fs) rs1554183559
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10529T>G (p.Leu3510Ter)
NM_138694.4(PKHD1):c.10561C>T (p.Gln3521Ter) rs2150415240
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser) rs1554183398
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
NM_138694.4(PKHD1):c.10673del (p.Gly3558fs) rs2150414452
NM_138694.4(PKHD1):c.10708del (p.Ser3570fs)
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter) rs1057516345
NM_138694.4(PKHD1):c.10722del (p.Gly3575fs)
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.10774C>T (p.Gln3592Ter)
NM_138694.4(PKHD1):c.10850_10862dup (p.Asn3621fs)
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.10893_10894del (p.Tyr3631_Arg3632delinsTer) rs1554183204
NM_138694.4(PKHD1):c.10894A>T (p.Arg3632Ter)
NM_138694.4(PKHD1):c.10937C>G (p.Ser3646Ter)
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs) rs765390756
NM_138694.4(PKHD1):c.10976C>G (p.Ser3659Ter) rs1562040106
NM_138694.4(PKHD1):c.10984_10987del (p.Ile3662fs) rs1772384576
NM_138694.4(PKHD1):c.11060delinsTT (p.Gln3687fs)
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.11223T>G (p.Tyr3741Ter) rs778676351
NM_138694.4(PKHD1):c.1131_1132insA (p.Gly378fs) rs2128215670
NM_138694.4(PKHD1):c.1136dup (p.Phe380fs)
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter) rs1215290114
NM_138694.4(PKHD1):c.11408dup (p.Ala3804fs) rs2150329535
NM_138694.4(PKHD1):c.11416del (p.Thr3806fs)
NM_138694.4(PKHD1):c.11435_11441del (p.Ser3812fs)
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter) rs2150329160
NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter) rs1768958447
NM_138694.4(PKHD1):c.11566A>T (p.Lys3856Ter) rs1409782065
NM_138694.4(PKHD1):c.1157del (p.Asn386fs) rs2128215604
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) rs1554167673
NM_138694.4(PKHD1):c.11613G>A (p.Trp3871Ter)
NM_138694.4(PKHD1):c.11685del (p.Pro3896fs)
NM_138694.4(PKHD1):c.11697_11785+527delinsTTAGG
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11766del (p.Asp3923fs)
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11785+1G>T rs1488844530
NM_138694.4(PKHD1):c.11821C>T (p.Gln3941Ter)
NM_138694.4(PKHD1):c.11830del (p.His3944fs) rs774086520
NM_138694.4(PKHD1):c.1197del (p.Leu400fs) rs766857175
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.1205del (p.Phe402fs) rs1057517178
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) rs1808421350
NM_138694.4(PKHD1):c.1260del (p.Thr421fs)
NM_138694.4(PKHD1):c.126del (p.Phe42fs) rs760586271
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter) rs2128212671
NM_138694.4(PKHD1):c.1338del (p.Leu447fs) rs1582013246
NM_138694.4(PKHD1):c.134_154delinsAG (p.Leu45_Pro52delinsTer) rs1812193678
NM_138694.4(PKHD1):c.1350del (p.Met451fs)
NM_138694.4(PKHD1):c.1356C>G (p.Tyr452Ter)
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1414C>T (p.Gln472Ter)
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
NM_138694.4(PKHD1):c.1529del (p.Gly510fs) rs1807855713
NM_138694.4(PKHD1):c.1621G>T (p.Glu541Ter)
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs) rs777295562
NM_138694.4(PKHD1):c.1644del (p.Lys548fs)
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
NM_138694.4(PKHD1):c.1820dup (p.Asp608fs)
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1849_1850dup (p.Lys618fs)
NM_138694.4(PKHD1):c.1854del (p.Gly619fs) rs1807328785
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.1967G>A (p.Trp656Ter) rs2128203970
NM_138694.4(PKHD1):c.1968G>T (p.Trp656Cys) rs1209068432
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg) rs727504092
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter) rs2128203862
NM_138694.4(PKHD1):c.2059C>T (p.Gln687Ter) rs2128203606
NM_138694.4(PKHD1):c.2085_2086insA (p.Glu696fs) rs2128203474
NM_138694.4(PKHD1):c.2107G>A (p.Asp703Asn) rs2128203385
NM_138694.4(PKHD1):c.210dup (p.Ala71fs)
NM_138694.4(PKHD1):c.2120T>C (p.Ile707Thr)
NM_138694.4(PKHD1):c.2135dup (p.Thr713fs)
NM_138694.4(PKHD1):c.2146C>T (p.Gln716Ter)
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs) rs1581956689
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs) rs2128196889
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2201_2202del (p.Val734fs) rs1806590811
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter) rs1806573538
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.2280-1G>A
NM_138694.4(PKHD1):c.2339_2340del (p.Arg780fs) rs2128192920
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2555G>A (p.Trp852Ter)
NM_138694.4(PKHD1):c.2563C>T (p.Gln855Ter) rs1805754682
NM_138694.4(PKHD1):c.2590del (p.Arg864fs) rs1057516709
NM_138694.4(PKHD1):c.2601del (p.Asp867fs)
NM_138694.4(PKHD1):c.2606del (p.Asn869fs)
NM_138694.4(PKHD1):c.2664_2665insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGGGAGAGGGAGAGGGAGCATGATGGTGGAGTTTTT (p.Leu889fs)
NM_138694.4(PKHD1):c.2688_2696delinsA (p.Met896fs) rs1805550477
NM_138694.4(PKHD1):c.2713C>T (p.Gln905Ter) rs1805547113
NM_138694.4(PKHD1):c.2733del (p.Asn911fs) rs2128184202
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2796T>A (p.Cys932Ter)
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.2846del (p.Tyr949fs) rs2128182991
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter) rs773136605
NM_138694.4(PKHD1):c.2932del (p.Gln978fs) rs2128182780
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys) rs2128182593
NM_138694.4(PKHD1):c.2T>C (p.Met1Thr) rs2128246846
NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu)
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.312_313del (p.Tyr105fs)
NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)
NM_138694.4(PKHD1):c.3225del (p.Arg1076fs)
NM_138694.4(PKHD1):c.3271dup (p.Asp1091fs) rs1803325484
NM_138694.4(PKHD1):c.3300del (p.Phe1100fs)
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.330C>G (p.Tyr110Ter)
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3350_3351del (p.Ile1117fs)
NM_138694.4(PKHD1):c.337G>T (p.Gly113Ter) rs2128240429
NM_138694.4(PKHD1):c.338del (p.Gly113fs)
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs) rs1554200778
NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter) rs1802523270
NM_138694.4(PKHD1):c.3479dup (p.Glu1161fs)
NM_138694.4(PKHD1):c.3549del (p.His1184fs) rs1802504786
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
NM_138694.4(PKHD1):c.3589dup (p.Glu1197fs) rs2128151635
NM_138694.4(PKHD1):c.3628G>T (p.Gly1210Ter)
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3744G>A (p.Trp1248Ter)
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs) rs2128146668
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs)
NM_138694.4(PKHD1):c.3815G>A (p.Trp1272Ter)
NM_138694.4(PKHD1):c.3837_3838del (p.Arg1280fs)
NM_138694.4(PKHD1):c.3848C>A (p.Ser1283Ter)
NM_138694.4(PKHD1):c.390+1del rs1554227162
NM_138694.4(PKHD1):c.3921del (p.Gly1308fs)
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3958G>T (p.Gly1320Ter)
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4026del (p.Phe1343fs) rs2128145291
NM_138694.4(PKHD1):c.4034del (p.Gly1345fs) rs2128145261
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs) rs1581810497
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.411_414dup (p.Val139fs) rs2128236822
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4183_4184dup (p.Pro1396fs)
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
NM_138694.4(PKHD1):c.4224del (p.Thr1408_Val1409insTer) rs2128144542
NM_138694.4(PKHD1):c.4235del (p.Leu1412fs) rs2128144488
NM_138694.4(PKHD1):c.424del (p.Val142fs) rs2128236801
NM_138694.4(PKHD1):c.4277C>A (p.Ser1426Ter)
NM_138694.4(PKHD1):c.4295del (p.Val1432fs) rs1246693314
NM_138694.4(PKHD1):c.4328del (p.Cys1443fs)
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter) rs1581808463
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs) rs1554198780
NM_138694.4(PKHD1):c.4375_4390del (p.Leu1459fs)
NM_138694.4(PKHD1):c.4415G>A (p.Cys1472Tyr)
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter) rs1554198717
NM_138694.4(PKHD1):c.4436dup (p.Ile1480fs) rs1801998818
NM_138694.4(PKHD1):c.4444_4450del (p.Glu1482fs)
NM_138694.4(PKHD1):c.448G>T (p.Gly150Ter)
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.4496del (p.Leu1499fs)
NM_138694.4(PKHD1):c.4519C>T (p.Gln1507Ter)
NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter) rs1433540169
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs) rs1057516691
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter) rs1057516263
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) rs1801949246
NM_138694.4(PKHD1):c.4666del (p.Arg1556fs)
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.4778_4779del (p.Ile1593fs) rs2128142610
NM_138694.4(PKHD1):c.47T>A (p.Leu16Ter)
NM_138694.4(PKHD1):c.4816del (p.Val1606fs) rs2128142490
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs) rs2128142414
NM_138694.4(PKHD1):c.484G>T (p.Gly162Ter) rs1210505160
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs) rs2128142132
NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter) rs779028446
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter) rs2128141956
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) rs1057517220
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5075G>A (p.Cys1692Tyr)
NM_138694.4(PKHD1):c.5075G>C (p.Cys1692Ser)
NM_138694.4(PKHD1):c.507del (p.Phe169fs) rs2128233864
NM_138694.4(PKHD1):c.5117del (p.Val1706fs)
NM_138694.4(PKHD1):c.5155dup (p.Tyr1719fs)
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
NM_138694.4(PKHD1):c.525del (p.Asp175fs) rs1810924520
NM_138694.4(PKHD1):c.5261_5262del (p.His1754fs)
NM_138694.4(PKHD1):c.5310_5311del (p.Cys1770fs)
NM_138694.4(PKHD1):c.5322C>A (p.Cys1774Ter) rs2128138552
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs) rs794727572
NM_138694.4(PKHD1):c.5374del (p.Leu1792fs) rs2128138378
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5420del (p.Asp1807fs)
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.5462del (p.Asp1820_Leu1821insTer) rs2128130342
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter) rs2128231908
NM_138694.4(PKHD1):c.5502G>A (p.Trp1834Ter) rs1800728912
NM_138694.4(PKHD1):c.5521G>T (p.Glu1841Ter)
NM_138694.4(PKHD1):c.5585C>A (p.Ser1862Ter)
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
NM_138694.4(PKHD1):c.5656del (p.Met1886fs)
NM_138694.4(PKHD1):c.5665del (p.Glu1889fs) rs1581727260
NM_138694.4(PKHD1):c.5695C>T (p.Gln1899Ter) rs2128117147
NM_138694.4(PKHD1):c.5742del (p.Asn1915fs)
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525
NM_138694.4(PKHD1):c.575_578del (p.Ser192fs)
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) rs1791765505
NM_138694.4(PKHD1):c.5767_5768del (p.Gln1923fs) rs2127947553
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
NM_138694.4(PKHD1):c.5784G>A (p.Trp1928Ter) rs1791760028
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5858del (p.Leu1953fs) rs2127946739
NM_138694.4(PKHD1):c.5909-46_5943del rs2127769312
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.5953del (p.Ala1985fs) rs1561921358
NM_138694.4(PKHD1):c.5994_5998del (p.Gly1999fs)
NM_138694.4(PKHD1):c.5995G>T (p.Gly1999Ter) rs2127768828
NM_138694.4(PKHD1):c.6001G>T (p.Glu2001Ter)
NM_138694.4(PKHD1):c.6008del (p.Lys2003fs) rs2127768716
NM_138694.4(PKHD1):c.6029del (p.Gln2010fs) rs1561920869
NM_138694.4(PKHD1):c.6077del (p.Gly2026fs)
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6111_6112insG (p.Ser2038fs)
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6336T>G (p.Tyr2112Ter) rs2127664665
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs)
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.6392dup (p.Val2132fs) rs2127664245
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs)
NM_138694.4(PKHD1):c.6472G>T (p.Glu2158Ter)
NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter) rs368263958
NM_138694.4(PKHD1):c.6506_6511delinsC (p.Cys2169fs)
NM_138694.4(PKHD1):c.6508_6511del (p.Leu2170fs)
NM_138694.4(PKHD1):c.6568C>T (p.Gln2190Ter) rs1782629977
NM_138694.4(PKHD1):c.6592C>T (p.Gln2198Ter)
NM_138694.4(PKHD1):c.6629G>A (p.Gly2210Glu)
NM_138694.4(PKHD1):c.6658del (p.Leu2220fs) rs2127651823
NM_138694.4(PKHD1):c.6765del (p.Asp2255fs)
NM_138694.4(PKHD1):c.6778del (p.Tyr2260fs) rs1782064827
NM_138694.4(PKHD1):c.6794A>T (p.His2265Leu)
NM_138694.4(PKHD1):c.6805_6806insCTAT (p.Val2269fs)
NM_138694.4(PKHD1):c.6835del (p.Ser2279fs)
NM_138694.4(PKHD1):c.6839G>A (p.Trp2280Ter) rs758404336
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter) rs1583295819
NM_138694.4(PKHD1):c.690dup (p.Val231fs) rs2128229183
NM_138694.4(PKHD1):c.6929del (p.Gly2310fs)
NM_138694.4(PKHD1):c.7011_7012del (p.Cys2337fs)
NM_138694.4(PKHD1):c.7023T>A (p.Tyr2341Ter)
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs) rs1583203255
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs) rs1554289495
NM_138694.4(PKHD1):c.7138C>T (p.Gln2380Ter)
NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter) rs757590581
NM_138694.4(PKHD1):c.7171_7172del (p.Leu2391fs)
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs)
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
NM_138694.4(PKHD1):c.7253_7254del (p.Lys2418fs)
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) rs1037991711
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter) rs1231660958
NM_138694.4(PKHD1):c.7417del (p.Thr2473fs)
NM_138694.4(PKHD1):c.7465del (p.Ser2489fs) rs2151777326
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter) rs2151777194
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter) rs1057516768
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter) rs769645972
NM_138694.4(PKHD1):c.7529_7530del (p.Ser2510fs) rs2151761823
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) rs863224528
NM_138694.4(PKHD1):c.7594_7597del (p.Ser2532fs)
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs) rs1775351921
NM_138694.4(PKHD1):c.7651_7652dup (p.Leu2551fs)
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter) rs1057516751
NM_138694.4(PKHD1):c.7713del (p.His2572fs) rs1057517078
NM_138694.4(PKHD1):c.7765_7766delinsT (p.Thr2589fs) rs1773247172
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs) rs1583054534
NM_138694.4(PKHD1):c.7867del (p.Tyr2623fs)
NM_138694.4(PKHD1):c.7880_7881del (p.Gln2626_Ser2627insTer)
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs) rs1583053996
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs) rs1045491786
NM_138694.4(PKHD1):c.7912-1G>A rs1160209891
NM_138694.4(PKHD1):c.7912-1G>C rs1160209891
NM_138694.4(PKHD1):c.7944del (p.Asn2649fs)
NM_138694.4(PKHD1):c.7950C>G (p.Tyr2650Ter)
NM_138694.4(PKHD1):c.7964A>G (p.His2655Arg)
NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter) rs1482563973
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) rs1583013487
NM_138694.4(PKHD1):c.7985_7986del (p.Pro2662fs)
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
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.8128C>T (p.Gln2710Ter) rs2151549840
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
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.820dup (p.Arg274fs) rs1582064844
NM_138694.4(PKHD1):c.821_822del (p.Arg274fs)
NM_138694.4(PKHD1):c.8289del (p.Leu2764fs) rs1768123584
NM_138694.4(PKHD1):c.8303-1G>A rs786204241
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
NM_138694.4(PKHD1):c.8409C>A (p.Cys2803Ter)
NM_138694.4(PKHD1):c.840del (p.Gly281fs)
NM_138694.4(PKHD1):c.8453del (p.Asn2818fs) rs1790945437
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter) rs2128223990
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8553del (p.Ile2851fs)
NM_138694.4(PKHD1):c.8562T>G (p.Tyr2854Ter)
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8604_8605del (p.Trp2868fs)
NM_138694.4(PKHD1):c.865C>T (p.Gln289Ter) rs2128223979
NM_138694.4(PKHD1):c.8668del (p.Trp2890fs) rs2151021274
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8731del (p.Leu2911fs) rs2151020773
NM_138694.4(PKHD1):c.8782A>T (p.Lys2928Ter) rs2151020303
NM_138694.4(PKHD1):c.8829dup (p.Ile2944fs) rs2151011995
NM_138694.4(PKHD1):c.8837del (p.Leu2946fs)
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter) rs1229564017
NM_138694.4(PKHD1):c.8870_8874del (p.Ile2957fs)
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs) rs1473686155
NM_138694.4(PKHD1):c.8912del (p.Val2971fs) rs2151011017
NM_138694.4(PKHD1):c.8916dup (p.Ser2973fs)
NM_138694.4(PKHD1):c.8980C>T (p.Gln2994Ter) rs2150987482
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter) rs775628123
NM_138694.4(PKHD1):c.9038_9039delinsAA (p.Ser3013Ter)
NM_138694.4(PKHD1):c.9070dup (p.Cys3024fs) rs2150986957
NM_138694.4(PKHD1):c.9081_9082dup (p.Ile3028fs)
NM_138694.4(PKHD1):c.9149del (p.Gly3050fs) rs2150986366
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.9210_9223del (p.Gln3070fs) rs2150985744
NM_138694.4(PKHD1):c.9219G>A (p.Trp3073Ter) rs761075492
NM_138694.4(PKHD1):c.9302_9303del (p.Arg3101fs)
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9329dup (p.Cys3111fs)
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro) rs373241537
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9552T>G (p.Tyr3184Ter)
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter) rs2150982651
NM_138694.4(PKHD1):c.9615del (p.Ile3205fs)
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9699del (p.Ser3234fs) rs1785437689
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs) rs1582436832
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540
NM_138694.4(PKHD1):c.9735G>A (p.Trp3245Ter)
NM_138694.4(PKHD1):c.9779G>A (p.Trp3260Ter)
NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter)
NM_138694.4(PKHD1):c.9845del (p.Ser3282fs)
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
NM_138694.4(PKHD1):c.9945del (p.Met3316fs)
NM_138694.4(PKHD1):c.9956_9957del (p.Ile3319fs)
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563

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