ClinVar Miner

List of variants reported as pathogenic for cystic kidney disease

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1435
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
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_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
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.5498C>T (p.Ser1833Leu) rs201105958 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.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met) rs368161263 0.00004
NM_001009944.3(PKD1):c.7065+9C>T rs765688834 0.00004
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.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 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_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter) rs764447736 0.00003
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) rs1567200098 0.00003
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_173543.3(DZIP1L):c.269C>T (p.Ala90Val) rs555349004 0.00003
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
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.390+1G>T rs752327566 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.1094+1G>A rs58606740 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.145C>T (p.Gln49Ter) rs1057518906 0.00001
NM_000297.4(PKD2):c.181C>T (p.Gln61Ter) rs1355372474 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.2419C>T (p.Arg807Ter) rs1276594505 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.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 0.00001
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter) rs1183899324 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter) rs941713150 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 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.11398+2T>C rs754038777 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.707+1G>A rs748365248 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.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.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.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.982C>T (p.Arg328Ter) rs398124503 0.00001
GRCh37/hg19 16p13.3(chr16:2089477-2135939)
GRCh37/hg19 16p13.3(chr16:2089795-2185919)
GRCh37/hg19 16p13.3(chr16:2092335-2112105)
GRCh37/hg19 16p13.3(chr16:2112698-2118833)
GRCh37/hg19 16p13.3(chr16:2140675-2140809)
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
GRCh37/hg19 16p13.3(chr16:2162341-2203046)
GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)
NC_000001.10:g.(155160963_155162030)insC
NC_000003.12:g.10133799_10141895del
NC_000004.11:g.(?_88896421)_(88979275_?)del
NC_000004.11:g.88957372-?_89042944+?dup
NC_000004.12:g.(?_88007714)_(88058123_?)del
NC_000004.12:g.(?_88007714)_(88075714_?)del
NC_000004.12:g.(?_88038231)_(88075714_?)del
NC_000004.12:g.(?_88928831)_(88996847_?)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
NC_000011.10:g.62628412_62655064del
NC_000016.10:g.2090809del rs2091475541
NC_000016.10:g.2092048_2092049dup rs1596482597
NC_000016.10:g.2132490_2138215del
NM_000092.5(COL4A4):c.2383G>A (p.Gly795Arg) rs779584531
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) rs2110107236
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs)
NM_000297.4(PKD2):c.1047dup (p.Val350fs) rs1578130597
NM_000297.4(PKD2):c.1088del (p.Gly363fs) rs1553925467
NM_000297.4(PKD2):c.1094+1G>C rs58606740
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1095-2A>T
NM_000297.4(PKD2):c.110del (p.Gly37fs) rs2110080128
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter) rs121918039
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs) rs2110112083
NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter) rs924484889
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs) rs1727648258
NM_000297.4(PKD2):c.1197del (p.Glu400fs) rs2110112181
NM_000297.4(PKD2):c.1205del (p.Thr402fs) rs2110112194
NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter) rs121918041
NM_000297.4(PKD2):c.1320-2del rs1578135823
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1322dup (p.Leu441fs) rs1727782355
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter) rs1391596181
NM_000297.4(PKD2):c.1325del (p.Leu442fs) rs1578135829
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) rs1578135842
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.1445del (p.Phe482fs) rs1578135940
NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter) rs1135401753
NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter) rs1727790591
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)
NM_000297.4(PKD2):c.152del (p.Gly51fs) rs1726229033
NM_000297.4(PKD2):c.1532A>T (p.Asp511Val) rs121918043
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1551del (p.Ser518fs) rs776718970
NM_000297.4(PKD2):c.1579_1580del (p.Tyr527fs) rs1553926509
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) rs1720124087
NM_000297.4(PKD2):c.1662G>A (p.Trp554Ter) rs1720126853
NM_000297.4(PKD2):c.1663C>T (p.Gln555Ter) rs1720127024
NM_000297.4(PKD2):c.1668dup (p.Gln557fs) rs1578139269
NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter) rs1273223177
NM_000297.4(PKD2):c.1678_1679del (p.Asn560fs)
NM_000297.4(PKD2):c.1704dup (p.Val569fs) rs1720128947
NM_000297.4(PKD2):c.1716+2T>A rs1720129561
NM_000297.4(PKD2):c.1737_1746delinsAACAGG (p.Phe579Leufs) rs1560620277
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1857del (p.Phe619fs) rs1720325511
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
NM_000297.4(PKD2):c.1868_1872del (p.Val623fs) rs1720325828
NM_000297.4(PKD2):c.1925del (p.Gly642fs)
NM_000297.4(PKD2):c.1934_1935delinsT (p.Asn645fs) rs1560621750
NM_000297.4(PKD2):c.196_199dup (p.Pro67fs) rs1726231891
NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs) rs2110129645
NM_000297.4(PKD2):c.1985del (p.Thr662fs) rs2110129653
NM_000297.4(PKD2):c.1986del (p.Thr663fs) rs1720430411
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs) rs1720431219
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2019+1_2019+5del rs1578142941
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs)
NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter) rs1578144873
NM_000297.4(PKD2):c.2052C>A (p.Tyr684Ter) rs2110133998
NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter)
NM_000297.4(PKD2):c.2118+1G>C rs1720594399
NM_000297.4(PKD2):c.2119-2A>G rs1720752309
NM_000297.4(PKD2):c.2125del (p.His709fs) rs2110137964
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter) rs770308463
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2240+1G>C rs1553927783
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter) rs1578147448
NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) rs1553927823
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2286C>G (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2358+1G>A
NM_000297.4(PKD2):c.2378_2384del (p.His793fs) rs1720855394
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2503dup (p.Ser835fs) rs1560628245
NM_000297.4(PKD2):c.2508C>A (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2517del (p.Gln840fs) rs2110141387
NM_000297.4(PKD2):c.2522+1_2522+2del rs1720863460
NM_000297.4(PKD2):c.2524del (p.Leu842fs) rs1553928730
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) rs1560632930
NM_000297.4(PKD2):c.2584del (p.Ala862fs) rs2110150747
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.2814del (p.Gln938fs)
NM_000297.4(PKD2):c.282del (p.Phe94fs)
NM_000297.4(PKD2):c.2844del (p.Ser949fs) rs1721205608
NM_000297.4(PKD2):c.306_307insAGG (p.Glu102_Val103insArg) rs398122932
NM_000297.4(PKD2):c.316del (p.Glu106fs)
NM_000297.4(PKD2):c.339_358dup (p.Pro120delinsArgTrpThrTer)
NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) rs1057518797
NM_000297.4(PKD2):c.405del (p.Ala136fs) rs1726245372
NM_000297.4(PKD2):c.423dup (p.Gly142fs) rs1726246959
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.538dup (p.Leu180fs) rs1371793191
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter) rs1726258048
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter) rs1163840810
NM_000297.4(PKD2):c.595+1G>A rs1578111778
NM_000297.4(PKD2):c.595+1G>C rs1578111778
NM_000297.4(PKD2):c.595+2T>C rs1018717398
NM_000297.4(PKD2):c.596-12_599del
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter) rs1726673986
NM_000297.4(PKD2):c.605del (p.Gly202fs) rs2110089194
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) rs2110089248
NM_000297.4(PKD2):c.642_643dup (p.Lys215fs) rs1726676402
NM_000297.4(PKD2):c.654_655del (p.Ser219fs) rs1578118330
NM_000297.4(PKD2):c.655_661del (p.Ser219fs)
NM_000297.4(PKD2):c.662del (p.Leu221fs) rs1726677278
NM_000297.4(PKD2):c.670del (p.Leu224fs) rs1553924173
NM_000297.4(PKD2):c.693dup (p.Ile232fs) rs1560598042
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.710-1G>A rs2110104725
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter) rs780351760
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter) rs1578129049
NM_000297.4(PKD2):c.744C>A (p.Tyr248Ter) rs1727326556
NM_000297.4(PKD2):c.753del (p.Arg251_Met252insTer) rs2110104830
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.816del (p.Leu273fs)
NM_000297.4(PKD2):c.817_818del (p.Leu273fs) rs1057518969
NM_000297.4(PKD2):c.843+1G>A rs1727333593
NM_000297.4(PKD2):c.844-2A>G rs1727412388
NM_000297.4(PKD2):c.848_849dup (p.Glu284fs) rs1727412539
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter) rs1727413505
NM_000297.4(PKD2):c.860_861insG (p.Leu288fs) rs1727413597
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.952dup (p.Val318fs) rs2110107069
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_000297.4(PKD2):c.986del (p.Gly329fs) rs1553925459
NM_000297.4(PKD2):c.999delinsAGA (p.Pro334fs) rs1560608729
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_001009944.2(PKD1):c.8017_8024delGGGCCCAG
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
NM_001009944.3(PKD1):c.10031del (p.Phe3344fs) rs2092006545
NM_001009944.3(PKD1):c.1004_1019del (p.Ala335fs) rs2092667308
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) rs1567166045
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter) rs2151729320
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs) rs1567165997
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
NM_001009944.3(PKD1):c.10163del (p.Ala3388fs) rs1596503384
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter) rs2151728536
NM_001009944.3(PKD1):c.10203dup (p.Leu3402fs)
NM_001009944.3(PKD1):c.10219del (p.Ser3407fs) rs2151728391
NM_001009944.3(PKD1):c.10220+2_10220+3del rs1114167366
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter) rs2151727019
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs) rs2151726918
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter) rs2151726823
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs) rs2091891993
NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter)
NM_001009944.3(PKD1):c.10321_10325del (p.Gln3441fs)
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter) rs780009030
NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs) rs2151726623
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs) rs2151725680
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs) rs2091883381
NM_001009944.3(PKD1):c.10487del (p.Leu3496fs) rs1555448106
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) rs2151710519
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) rs1378307448
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs) rs2151710347
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs) rs2151710316
NM_001009944.3(PKD1):c.10560dup (p.Pro3521fs) rs1555447196
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter) rs1057516041
NM_001009944.3(PKD1):c.10659del (p.Trp3553fs) rs1555447057
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter) rs1361283193
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter) rs1177764199
NM_001009944.3(PKD1):c.10725_10726dup (p.Val3576fs) rs2151708812
NM_001009944.3(PKD1):c.10733del (p.Ala3578fs) rs2091725538
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs) rs2151708652
NM_001009944.3(PKD1):c.1078_1088del (p.Glu360fs) rs1555459001
NM_001009944.3(PKD1):c.10822-1G>C rs2091715597
NM_001009944.3(PKD1):c.10822-30_10852del
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11016+1G>A rs2151707040
NM_001009944.3(PKD1):c.11033del (p.Met3678fs) rs1555446637
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs) rs2091670117
NM_001009944.3(PKD1):c.11112_11119dup (p.Gln3707fs) rs2151704327
NM_001009944.3(PKD1):c.11119C>T (p.Gln3707Ter) rs2091668243
NM_001009944.3(PKD1):c.11137dup (p.Ala3713fs) rs1555446582
NM_001009944.3(PKD1):c.11156+1G>C rs1596485727
NM_001009944.3(PKD1):c.11156+1G>T rs1596485727
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11157-1G>A rs2091646317
NM_001009944.3(PKD1):c.11178G>A (p.Trp3726Ter) rs2091645594
NM_001009944.3(PKD1):c.111C>A (p.Cys37Ter) rs2092941027
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs) rs1567155179
NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter) rs1567155145
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del) rs1567154953
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11270-1G>A rs2151700092
NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter) rs369825780
NM_001009944.3(PKD1):c.11311_11312dup (p.Ala3772fs) rs2091620763
NM_001009944.3(PKD1):c.11313_11314insCCCG (p.Ala3772fs) rs2091620545
NM_001009944.3(PKD1):c.11314del (p.Ala3772fs) rs1555446033
NM_001009944.3(PKD1):c.11315_11321del (p.Ala3772fs)
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs) rs1555445999
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
NM_001009944.3(PKD1):c.11344_11366dup (p.His3789fs)
NM_001009944.3(PKD1):c.1136dup (p.Asn379fs) rs2092665918
NM_001009944.3(PKD1):c.11377_11395dup (p.Ala3799fs) rs2091614437
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11388del (p.Tyr3797fs) rs2091615030
NM_001009944.3(PKD1):c.11411+1G>C rs2091612821
NM_001009944.3(PKD1):c.11412-2A>C rs1555445771
NM_001009944.3(PKD1):c.11412-7_11468del
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11423G>A (p.Trp3808Ter)
NM_001009944.3(PKD1):c.11426dup (p.Ser3810fs) rs2091601824
NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs) rs2091600536
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) rs1325300747
NM_001009944.3(PKD1):c.11488_11489del (p.Ser3830fs)
NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter) rs1286585831
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter) rs199476096
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg) rs1057518959
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) rs1596481464
NM_001009944.3(PKD1):c.11538-2A>C
NM_001009944.3(PKD1):c.11552del (p.Phe3851fs) rs2091580617
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter) rs2091580237
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs) rs2151695526
NM_001009944.3(PKD1):c.11628_11629insA (p.Gly3877fs) rs2091576236
NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs)
NM_001009944.3(PKD1):c.11649_11662del (p.Ser3884fs) rs1596480112
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs) rs2151695024
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11712+1G>C rs2091571329
NM_001009944.3(PKD1):c.11712+2T>C rs2091571271
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.1171dup (p.Ile391fs) rs2092665584
NM_001009944.3(PKD1):c.11722dup (p.Leu3908fs)
NM_001009944.3(PKD1):c.11723T>C (p.Leu3908Pro) rs2151688569
NM_001009944.3(PKD1):c.11725_11740del (p.Leu3909fs) rs2091500917
NM_001009944.3(PKD1):c.11752G>T (p.Glu3918Ter) rs1555445229
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11784G>A (p.Trp3928Ter) rs759035704
NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs) rs1555445192
NM_001009944.3(PKD1):c.11800_11801del (p.Gly3934fs)
NM_001009944.3(PKD1):c.11853dup (p.Arg3952fs) rs2091493781
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.11881_11981del (p.Arg3961fs)
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) rs1596476503
NM_001009944.3(PKD1):c.11889G>A (p.Trp3963Ter) rs2091491322
NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967fs) rs886040959
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.11984dup (p.Phe3996fs) rs2091483332
NM_001009944.3(PKD1):c.1199del (p.Arg400fs) rs2092665134
NM_001009944.3(PKD1):c.12004-2A>G rs2091475604
NM_001009944.3(PKD1):c.12004-7_12012dup rs1596475487
NM_001009944.3(PKD1):c.12007del (p.Ala4003fs) rs2091475296
NM_001009944.3(PKD1):c.1201+1G>A rs1596588978
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
NM_001009944.3(PKD1):c.1202-1G>A rs2151822688
NM_001009944.3(PKD1):c.1202-2A>G rs2092662592
NM_001009944.3(PKD1):c.1202-2A>T rs2092662592
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter) rs1218054241
NM_001009944.3(PKD1):c.12039_12040insAC (p.Val4014fs) rs2091472604
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12138+1G>C rs2151684070
NM_001009944.3(PKD1):c.12139-2A>C rs2091453268
NM_001009944.3(PKD1):c.12143_12144insTT (p.Ser4049fs)
NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter) rs2151682538
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter) rs2091450305
NM_001009944.3(PKD1):c.12217_12221del (p.Thr4073fs) rs1567146946
NM_001009944.3(PKD1):c.12232del (p.Glu4078fs) rs2091446343
NM_001009944.3(PKD1):c.12261T>A (p.Cys4087Ter) rs199476097
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) rs1060499718
NM_001009944.3(PKD1):c.1232_1251dup (p.His418fs) rs2092661595
NM_001009944.3(PKD1):c.12334_12335insGG (p.Ala4112fs)
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs) rs2091440383
NM_001009944.3(PKD1):c.12348del (p.Glu4116fs) rs1596473420
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12381C>A (p.Tyr4127Ter)
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter) rs756212622
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs) rs2151680679
NM_001009944.3(PKD1):c.123_129del (p.Gly44fs)
NM_001009944.3(PKD1):c.12420G>A (p.Trp4140Ter) rs199476102
NM_001009944.3(PKD1):c.12444+1G>A rs2091431794
NM_001009944.3(PKD1):c.12445-2A>C rs1555444334
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.12490del (p.Arg4164fs) rs1596472276
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs) rs1555444249
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs) rs2091400717
NM_001009944.3(PKD1):c.12605del (p.Gly4202fs)
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs) rs2151676915
NM_001009944.3(PKD1):c.12658G>T (p.Glu4220Ter) rs2091397048
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs) rs2151675632
NM_001009944.3(PKD1):c.1303C>T (p.Gln435Ter) rs2092660457
NM_001009944.3(PKD1):c.1309C>T (p.Gln437Ter) rs2151822408
NM_001009944.3(PKD1):c.1326del (p.Ala443fs) rs2151822381
NM_001009944.3(PKD1):c.1347_1356delinsAC (p.Ser449fs) rs1567216323
NM_001009944.3(PKD1):c.1353dup (p.Val452fs) rs2151822325
NM_001009944.3(PKD1):c.1385+1G>T
NM_001009944.3(PKD1):c.1391del (p.Leu464fs) rs2092649198
NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs)
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1429G>T (p.Glu477Ter)
NM_001009944.3(PKD1):c.1491del (p.Glu499fs)
NM_001009944.3(PKD1):c.1491dup (p.Gly498fs) rs2092648005
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1548G>A (p.Trp516Ter) rs2151820663
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys) rs750798165
NM_001009944.3(PKD1):c.1584C>A (p.Tyr528Ter) rs1401015526
NM_001009944.3(PKD1):c.1606+1G>A rs2151820539
NM_001009944.3(PKD1):c.1606+5G>A rs2092646077
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs) rs3072277
NM_001009944.3(PKD1):c.1654del (p.Asp552fs) rs2151819777
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter)
NM_001009944.3(PKD1):c.1669dup (p.Leu557fs) rs2092640687
NM_001009944.3(PKD1):c.1700C>G (p.Ser567Ter) rs765817015
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.176_206del (p.Leu59fs) rs2092939869
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter) rs2092629130
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1849+1G>T rs2092628618
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter) rs1348307652
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)
NM_001009944.3(PKD1):c.1931del (p.Gly644fs) rs1596580483
NM_001009944.3(PKD1):c.195_196insGACC (p.Pro66fs) rs2092939979
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
NM_001009944.3(PKD1):c.2032del (p.Ala678fs) rs2092615974
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter) rs1174034883
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs) rs2151816205
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001009944.3(PKD1):c.2085del (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2089C>T (p.Gln697Ter) rs2151816083
NM_001009944.3(PKD1):c.2097+2T>C rs2092614697
NM_001009944.3(PKD1):c.2101_2102dup (p.Leu702fs) rs2092604612
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter) rs2092604224
NM_001009944.3(PKD1):c.215+2_215+3del rs2092939625
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) rs747483368
NM_001009944.3(PKD1):c.2250G>A (p.Trp750Ter) rs2092601367
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs) rs2092600549
NM_001009944.3(PKD1):c.2376_2382del (p.Pro793fs) rs2092599090
NM_001009944.3(PKD1):c.2396_2421del (p.Arg799fs) rs2092598385
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2528C>G (p.Ser843Ter) rs2092596212
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter) rs199476100
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2542C>T (p.Gln848Ter) rs2092595963
NM_001009944.3(PKD1):c.2545G>A (p.Val849Met)
NM_001009944.3(PKD1):c.2605del (p.Arg869fs) rs2092594790
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.2659del (p.Trp887fs) rs2092593850
NM_001009944.3(PKD1):c.2660G>A (p.Trp887Ter) rs769587438
NM_001009944.3(PKD1):c.2674del (p.Thr892fs)
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs) rs1567210080
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer) rs2151813077
NM_001009944.3(PKD1):c.2688_2698del (p.Leu899fs)
NM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter) rs2092592999
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter) rs1339097856
NM_001009944.3(PKD1):c.2777_2789del (p.Val926fs) rs2092590647
NM_001009944.3(PKD1):c.2784_2796del (p.Glu929fs)
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs) rs1596574774
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter) rs763199691
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.288-2A>G rs2092684358
NM_001009944.3(PKD1):c.290del (p.Asp97fs) rs2092684328
NM_001009944.3(PKD1):c.2914A>T (p.Lys972Ter) rs2092566273
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.2952_2955del (p.Tyr986fs)
NM_001009944.3(PKD1):c.2962_2985+1del
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
NM_001009944.3(PKD1):c.2986-1G>A rs2092557654
NM_001009944.3(PKD1):c.302del (p.Asn101fs) rs2151826161
NM_001009944.3(PKD1):c.304A>T (p.Lys102Ter) rs2092684104
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter) rs753261451
NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter) rs2092555939
NM_001009944.3(PKD1):c.3071delinsCCC (p.Val1024fs) rs1567206904
NM_001009944.3(PKD1):c.3161+1G>C
NM_001009944.3(PKD1):c.3162-1G>A
NM_001009944.3(PKD1):c.3184C>T (p.Gln1062Ter) rs1231492796
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3205_3235del (p.Pro1069fs) rs2092538008
NM_001009944.3(PKD1):c.322G>T (p.Glu108Ter) rs1416011785
NM_001009944.3(PKD1):c.3250C>T (p.Gln1084Ter) rs1373028227
NM_001009944.3(PKD1):c.3295+1G>T rs2092536130
NM_001009944.3(PKD1):c.3295+2T>G rs2092536098
NM_001009944.3(PKD1):c.3296-1G>A rs1567204631
NM_001009944.3(PKD1):c.330del (p.Phe111fs) rs2151826084
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter) rs755084885
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
NM_001009944.3(PKD1):c.3441C>A (p.Tyr1147Ter)
NM_001009944.3(PKD1):c.3482G>A (p.Trp1161Ter) rs1205064584
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3503dup (p.Val1169fs) rs1555456661
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter) rs1057516206
NM_001009944.3(PKD1):c.3572_3573insA (p.Glu1192fs) rs2092507274
NM_001009944.3(PKD1):c.359+2T>G rs2092683440
NM_001009944.3(PKD1):c.3597_3601dup (p.Ala1201fs) rs2151800732
NM_001009944.3(PKD1):c.3601del (p.Ala1201fs) rs2092506499
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter) rs2092506242
NM_001009944.3(PKD1):c.3684del (p.Val1229fs) rs2092503653
NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter) rs2092501974
NM_001009944.3(PKD1):c.3729G>A (p.Trp1243Ter) rs2092501936
NM_001009944.3(PKD1):c.3792C>A (p.Tyr1264Ter) rs145263744
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
NM_001009944.3(PKD1):c.3850del (p.Ala1284fs) rs1567202350
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter) rs780119305
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs) rs2151799399
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs) rs2092491511
NM_001009944.3(PKD1):c.404G>A (p.Trp135Ter) rs1567219111
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4105dup (p.His1369fs)
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4168C>T (p.Gln1390Ter) rs2092487764
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter) rs890465248
NM_001009944.3(PKD1):c.4214G>A (p.Trp1405Ter) rs2151798372
NM_001009944.3(PKD1):c.4217_4220dup (p.Phe1408fs) rs754820795
NM_001009944.3(PKD1):c.4222_4232dup (p.Tyr1412fs) rs2092485909
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs) rs34495017
NM_001009944.3(PKD1):c.4276_4277delinsA (p.Ala1426fs) rs2092484442
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4394C>T (p.Pro1465Leu)
NM_001009944.3(PKD1):c.439dup (p.Val147fs) rs2092679105
NM_001009944.3(PKD1):c.4419del (p.Asn1474fs) rs2151797547
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4452del (p.Tyr1485fs) rs2092479999
NM_001009944.3(PKD1):c.445del (p.Gln149fs) rs796052133
NM_001009944.3(PKD1):c.4461del (p.Ser1488fs) rs1555455998
NM_001009944.3(PKD1):c.4485dup (p.Ala1496fs) rs2092478837
NM_001009944.3(PKD1):c.4550dup (p.Tyr1517Ter) rs2092477162
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter) rs2151796950
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs)
NM_001009944.3(PKD1):c.4654del (p.Val1552fs) rs2047525622
NM_001009944.3(PKD1):c.4709del (p.Thr1570fs) rs1555455797
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs) rs2151796475
NM_001009944.3(PKD1):c.4782del (p.Pro1595fs) rs2092471431
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.4832_4836dup (p.Ala1613fs) rs1596557533
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
NM_001009944.3(PKD1):c.4895_4896del (p.Ile1632fs)
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)
NM_001009944.3(PKD1):c.491del (p.Gln164fs) rs2151825169
NM_001009944.3(PKD1):c.4929C>G (p.Tyr1643Ter) rs752948922
NM_001009944.3(PKD1):c.4995del (p.Trp1666fs) rs2151795458
NM_001009944.3(PKD1):c.499del (p.Gly168fs) rs2151825150
NM_001009944.3(PKD1):c.5021del (p.Pro1674fs) rs1555455453
NM_001009944.3(PKD1):c.5047_5051del (p.Phe1683fs) rs2092460746
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter) rs534630703
NM_001009944.3(PKD1):c.5080del (p.His1694fs) rs2092460002
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.5142del (p.Phe1714fs) rs2092458566
NM_001009944.3(PKD1):c.5155G>C (p.Gly1719Arg)
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter) rs2092456617
NM_001009944.3(PKD1):c.5290G>T (p.Glu1764Ter) rs753749502
NM_001009944.3(PKD1):c.5301del (p.Thr1768fs) rs2092454886
NM_001009944.3(PKD1):c.5364del (p.Ser1789fs)
NM_001009944.3(PKD1):c.5366C>G (p.Ser1789Ter) rs1377414968
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter) rs2092452489
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.5637C>A (p.Tyr1879Ter) rs2092447380
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) rs1304952446
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter) rs2151792059
NM_001009944.3(PKD1):c.5722C>T (p.Gln1908Ter) rs2151791889
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs) rs2092444151
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs) rs2092443264
NM_001009944.3(PKD1):c.5809del (p.Ser1937fs) rs1555454915
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter) rs200001471
NM_001009944.3(PKD1):c.5856del (p.Asn1954fs) rs2151791178
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.5886_5893del (p.Gln1962fs) rs2092440281
NM_001009944.3(PKD1):c.5890del (p.Arg1964fs) rs2092440406
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del) rs1555454847
NM_001009944.3(PKD1):c.5921del (p.Leu1974fs) rs1596553527
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs) rs2151790507
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.601dup (p.His201fs) rs2151824362
NM_001009944.3(PKD1):c.6021C>A (p.Tyr2007Ter) rs147391291
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter) rs2151790199
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs) rs2092433875
NM_001009944.3(PKD1):c.6147_6148del (p.Asn2050fs) rs2092433535
NM_001009944.3(PKD1):c.6164dup (p.Glu2056fs) rs2151789587
NM_001009944.3(PKD1):c.616C>T (p.Gln206Ter)
NM_001009944.3(PKD1):c.6197_6209del (p.Leu2066fs) rs2092431000
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs) rs2151789316
NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter) rs2151788870
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs) rs2151824295
NM_001009944.3(PKD1):c.6299C>A (p.Ser2100Ter) rs539793378
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter) rs1555454512
NM_001009944.3(PKD1):c.6323_6330delinsACTCCTACCT (p.Pro2108fs) rs2092427579
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter) rs762911981
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg) rs2151788244
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) rs2092425533
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter) rs2151788037
NM_001009944.3(PKD1):c.6424del (p.Gln2142fs) rs1060499702
NM_001009944.3(PKD1):c.6440_6467del (p.Arg2147fs) rs1567192790
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter) rs2092423837
NM_001009944.3(PKD1):c.6483dup (p.Arg2162fs) rs1334651902
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter) rs1485307916
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter) rs1054011070
NM_001009944.3(PKD1):c.6549del (p.Glu2184fs)
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter) rs755972713
NM_001009944.3(PKD1):c.6560G>A (p.Trp2187Ter) rs1161210869
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs) rs1596551138
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs) rs2092420672
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter) rs1567192286
NM_001009944.3(PKD1):c.659del (p.Gly220fs) rs2151824233
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6747_6750delinsCA (p.Thr2250fs)
NM_001009944.3(PKD1):c.6749_6750del (p.Thr2250fs)
NM_001009944.3(PKD1):c.678G>A (p.Glu226=) rs2092673013
NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
NM_001009944.3(PKD1):c.6813dup (p.Arg2272fs) rs2151785975
NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter) rs546354639
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter) rs755591790
NM_001009944.3(PKD1):c.6883dup (p.Ser2295fs) rs2151785622
NM_001009944.3(PKD1):c.6913_6914del (p.Gln2305fs) rs1555454075
NM_001009944.3(PKD1):c.6915+1G>A rs2151785467
NM_001009944.3(PKD1):c.695G>C (p.Cys232Ser)
NM_001009944.3(PKD1):c.6982G>T (p.Glu2328Ter) rs2151783909
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter) rs2092401442
NM_001009944.3(PKD1):c.7045G>T (p.Glu2349Ter)
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs) rs1596548114
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter) rs2092400157
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001009944.3(PKD1):c.7065+2T>G rs2151783529
NM_001009944.3(PKD1):c.7066-1G>C
NM_001009944.3(PKD1):c.707del (p.Gln236fs) rs2092672656
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7111del (p.Val2371fs) rs1567187420
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)
NM_001009944.3(PKD1):c.711del (p.Ser238fs) rs2092672595
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs) rs2092356759
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7214G>A (p.Trp2405Ter) rs1555453244
NM_001009944.3(PKD1):c.7249dup (p.Leu2417fs) rs2092345946
NM_001009944.3(PKD1):c.7252del (p.Asp2418fs)
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.7369G>T (p.Glu2457Ter) rs2092341848
NM_001009944.3(PKD1):c.7421del (p.Gly2474fs) rs1237714286
NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter) rs1453883641
NM_001009944.3(PKD1):c.7495del (p.His2499fs) rs2092333316
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs) rs2151772170
NM_001009944.3(PKD1):c.7622del (p.Pro2541fs) rs1555452849
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter) rs28369051
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7749del (p.Leu2584fs) rs2092323231
NM_001009944.3(PKD1):c.7804C>T (p.Gln2602Ter) rs2092321430
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter) rs2092321142
NM_001009944.3(PKD1):c.7818dup (p.His2607fs) rs1555452653
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter) rs138871063
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter) rs762003393
NM_001009944.3(PKD1):c.7863+1del rs2092319664
NM_001009944.3(PKD1):c.7864-1G>T rs2092305301
NM_001009944.3(PKD1):c.78del (p.Arg28fs) rs2092941432
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter) rs778979740
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs) rs1555452400
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7951del (p.Val2651fs) rs2151766847
NM_001009944.3(PKD1):c.7973_7974del (p.Val2658fs) rs2092302256
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.7989del (p.Ile2664fs) rs2151766664
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter) rs2092301272
NM_001009944.3(PKD1):c.8017-1G>C rs2092263886
NM_001009944.3(PKD1):c.8017-2A>G rs1567180640
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs) rs2092262890
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter) rs151308544
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter) rs377029031
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter) rs779516086
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter) rs1222094213
NM_001009944.3(PKD1):c.8098G>A (p.Ala2700Thr)
NM_001009944.3(PKD1):c.8116_8125del (p.Thr2706fs) rs2092260381
NM_001009944.3(PKD1):c.8161+1G>T
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8162-2A>G rs2092209753
NM_001009944.3(PKD1):c.81del (p.Arg28fs)
NM_001009944.3(PKD1):c.8234_8235insCGTCACCATC (p.Arg2746fs) rs2092206577
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs) rs1596527579
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter) rs2092205600
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs) rs2092202856
NM_001009944.3(PKD1):c.8320del (p.Pro2773_Leu2774insTer) rs2092202749
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs) rs1567178000
NM_001009944.3(PKD1):c.8388T>G (p.Tyr2796Ter) rs2092200060
NM_001009944.3(PKD1):c.8427_8446dup (p.Leu2816fs)
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.8480_8481insCT (p.Leu2828fs)
NM_001009944.3(PKD1):c.8493dup (p.Asn2832fs)
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs) rs2151754452
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs) rs2151754069
NM_001009944.3(PKD1):c.8749del (p.Ala2917fs) rs2092179583
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs) rs1596525695
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter) rs747638599
NM_001009944.3(PKD1):c.8791+1G>A rs2092177236
NM_001009944.3(PKD1):c.8791+40_10050+3del
NM_001009944.3(PKD1):c.8804_8805del (p.Leu2934_Ser2935insTer)
NM_001009944.3(PKD1):c.8836del (p.Leu2946fs) rs2092156841
NM_001009944.3(PKD1):c.8839del (p.His2947fs)
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter) rs750780241
NM_001009944.3(PKD1):c.8897_8898del (p.Glu2966fs) rs2092154654
NM_001009944.3(PKD1):c.8900C>G (p.Ser2967Ter)
NM_001009944.3(PKD1):c.8945del (p.Pro2982fs) rs2092151870
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter) rs1567174997
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter) rs1596522636
NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs) rs1555450475
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer) rs1555450424
NM_001009944.3(PKD1):c.9201+1G>A rs2151749304
NM_001009944.3(PKD1):c.9217dup (p.Val3073fs)
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter) rs1596520985
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)
NM_001009944.3(PKD1):c.9386del (p.Gly3129fs)
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9486dup (p.Asn3163fs) rs2092049440
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.9568+1G>C rs2092046394
NM_001009944.3(PKD1):c.9569-1G>C rs2151741177
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter)
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) rs1596514027
NM_001009944.3(PKD1):c.9585_9591del (p.Trp3195fs) rs2092039663
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter) rs1474701377
NM_001009944.3(PKD1):c.9656_9674del (p.Leu3219fs) rs2092035920
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs) rs2151823406
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter) rs2151740638
NM_001009944.3(PKD1):c.9726_9727insA (p.Leu3243fs) rs2151739862
NM_001009944.3(PKD1):c.9736del (p.Arg3246fs) rs2092026801
NM_001009944.3(PKD1):c.9841del (p.Ala3281fs) rs2092021706
NM_001009944.3(PKD1):c.9867C>A (p.Cys3289Ter) rs1420757773
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter) rs1415277933
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs) rs1567169638
NM_001009944.3(PKD1):c.99C>A (p.Cys33Ter) rs2092941253
NM_001009944.3(PKD1):c.[7735_7737del;7972_7979del]
NM_001009944.3(PKD1):c.[9428_9429insCACGA;9432_9433del]
NM_001009944.3:c.(287+1_288-1)_(12003+1_12004-1)del
NM_001037160.3(CYS1):c.318+5G>A rs1201981092
NM_001371720.2(MUC1):c.3298dup (p.Thr1101Asnfs) rs1667142761
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter) rs980305935
NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter) rs1719950579
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_003361.4(UMOD):c.106C>T (p.His36Tyr)
NM_003361.4(UMOD):c.230G>A (p.Cys77Tyr) rs121917768
NM_003361.4(UMOD):c.276C>G (p.Cys92Trp)
NM_003361.4(UMOD):c.278T>C (p.Val93Ala) rs2141676565
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.280T>G (p.Cys94Gly) rs2141676543
NM_003361.4(UMOD):c.281G>C (p.Cys94Ser) rs2141676533
NM_003361.4(UMOD):c.283C>T (p.Pro95Ser) rs2141676523
NM_003361.4(UMOD):c.286G>T (p.Glu96Ter) rs1357689052
NM_003361.4(UMOD):c.287_289del (p.Glu96del) rs2141676487
NM_003361.4(UMOD):c.307G>T (p.Gly103Cys) rs28934584
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.358T>G (p.Cys120Gly) rs1555487621
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg) rs121917769
NM_003361.4(UMOD):c.383A>G (p.Asn128Ser) rs121917770
NM_003361.4(UMOD):c.443G>A (p.Cys148Tyr) rs28934582
NM_003361.4(UMOD):c.444T>G (p.Cys148Trp) rs1965741911
NM_003361.4(UMOD):c.490G>T (p.Glu164Ter) rs1057515585
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del) rs1555487528
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys) rs1567310155
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn) rs1965729129
NM_003361.4(UMOD):c.649T>C (p.Cys217Arg) rs28934583
NM_003361.4(UMOD):c.649T>G (p.Cys217Gly) rs28934583
NM_003361.4(UMOD):c.651C>G (p.Cys217Trp) rs1596561934
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.743G>C (p.Cys248Ser) rs398122388
NM_003361.4(UMOD):c.764G>A (p.Cys255Tyr) rs121917771
NM_003361.4(UMOD):c.817G>T (p.Val273Phe) rs121917774
NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr) rs1596560944
NM_003361.4(UMOD):c.898T>G (p.Cys300Gly) rs121917772
NM_003361.4(UMOD):c.93G>C (p.Trp31Cys)
NM_003361.4(UMOD):c.943T>C (p.Cys315Arg) rs121917773
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro) rs1555487318
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly) rs1555487316
NM_013338.5(ALG5):c.623G>A (p.Arg208His)
NM_013338.5(ALG5):c.635G>A (p.Arg212His)
NM_013338.5(ALG5):c.703_704del (p.Gln235fs)
NM_013338.5(ALG5):c.773G>A (p.Trp258Ter)
NM_016306.6(DNAJB11):c.151C>T (p.Gln51Ter)
NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg) rs1553849919
NM_016306.6(DNAJB11):c.166_167insTT (p.Arg56fs) rs1553849920
NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro) rs1553850185
NM_016306.6(DNAJB11):c.479del (p.Ala160fs) rs1351138670
NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter) rs2108473228
NM_020706.2(SCAF4):c.1295_1296del (p.Arg432fs)
NM_024740.2(ALG9):c.1109G>A (p.Arg370Lys) rs782464678
NM_024740.2(ALG9):c.681G>A (p.Trp227Ter) rs1592341222
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter) rs774410421
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_138694.3(PKHD1):c.8108-?_8173+?del
NM_138694.3:c.(?_5909)_(12225_?)del
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
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.1057C>T (p.Gln353Ter)
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.1068dup (p.Asn357Ter) rs1554219449
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.10972_10973del (p.Ile3658fs) rs1057517047
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.11026G>T (p.Gly3676Ter)
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.11452G>T (p.Val3818Phe) rs1385935333
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.1180G>A (p.Ala394Thr) rs1582024305
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.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1233+99_1694-441del
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.1284G>A (p.Trp428Ter)
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter) rs2128212671
NM_138694.4(PKHD1):c.1305del (p.Thr436fs) rs1808150555
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.1602+1G>A rs398124476
NM_138694.4(PKHD1):c.1621G>T (p.Glu541Ter)
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs) rs1554216499
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs) rs777295562
NM_138694.4(PKHD1):c.1644del (p.Lys548fs)
NM_138694.4(PKHD1):c.1693+1G>T rs2128209217
NM_138694.4(PKHD1):c.1693+2T>G rs1581999471
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.2140+1G>A rs1554213853
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.2192C>A (p.Ser731Ter) rs1057516608
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.2770C>T (p.Gln924Ter)
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.2950C>T (p.Gln984Ter) rs1581910796
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.3228+1G>T rs868673401
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
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.3364G>A (p.Gly1122Ser) rs1803308145
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.3561-1G>A rs1802457333
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.3766del (p.Gln1256fs) rs746972457
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+1G>A rs752327566
NM_138694.4(PKHD1):c.390+1del rs1554227162
NM_138694.4(PKHD1):c.3907del (p.Val1303fs) rs1581812192
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.4021_4022del (p.Gln1341fs) rs1802068057
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.4481del (p.Asn1494fs) rs1801988386
NM_138694.4(PKHD1):c.4485del (p.Ser1496fs) rs1325403863
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.4644del (p.Tyr1549fs) rs2128143028
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) rs1801949246
NM_138694.4(PKHD1):c.4666del (p.Arg1556fs)
NM_138694.4(PKHD1):c.470dup (p.Trp158fs) rs2128233941
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.4991C>T (p.Ser1664Phe) rs28937907
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.5081dup (p.Val1695fs) rs1057518952
NM_138694.4(PKHD1):c.5117del (p.Val1706fs)
NM_138694.4(PKHD1):c.5155dup (p.Tyr1719fs)
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
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.528-2A>G
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.5334dup (p.Asn1779Ter) rs1801600694
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.5476del (p.Ala1826fs)
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.5538C>A (p.Cys1846Ter)
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+1G>A rs775638588
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
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.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.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.602+1G>A rs1554223950
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.6209G>A (p.Trp2070Ter)
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)
NM_138694.4(PKHD1):c.6273_6285delinsGA (p.Glu2092fs)
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6333-2A>G
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.6442G>T (p.Glu2148Ter) rs1782990176
NM_138694.4(PKHD1):c.6469C>T (p.Gln2157Ter)
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.6809-2A>G rs1340926191
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.6865+1G>A
NM_138694.4(PKHD1):c.690dup (p.Val231fs) rs2128229183
NM_138694.4(PKHD1):c.6929del (p.Gly2310fs)
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
NM_138694.4(PKHD1):c.7011_7012del (p.Cys2337fs)
NM_138694.4(PKHD1):c.7023T>A (p.Tyr2341Ter)
NM_138694.4(PKHD1):c.7060C>T (p.Gln2354Ter)
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.731G>A (p.Trp244Ter) rs1582085757
NM_138694.4(PKHD1):c.7351-1G>C rs1554282540
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.7396G>T (p.Glu2466Ter)
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.7719dup (p.Met2574fs) rs797044745
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.7912-2A>G rs1554271235
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.7_19del (p.Ala3fs)
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter) rs768660365
NM_138694.4(PKHD1):c.8108-1G>C rs2151550125
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.8302+2T>C rs2151510946
NM_138694.4(PKHD1):c.8303-1G>A rs786204241
NM_138694.4(PKHD1):c.831_836del (p.277IT[1])
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.8555-2A>G rs1020621286
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.8798-2A>T rs1582470309
NM_138694.4(PKHD1):c.880+1G>A rs1582064292
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
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.9053C>T (p.Ser3018Phe) rs137852945
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.9182_9183insATTAGTGACA (p.Asn3062fs) rs1582441668
NM_138694.4(PKHD1):c.9183_9186delinsATTAGTGACATCAG (p.Asn3062fs) rs2150986043
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.9348del (p.Leu3117fs) rs1785501068
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.9386del (p.Gly3129fs) rs1785493309
NM_138694.4(PKHD1):c.9455del (p.Asn3152fs)
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.9568C>T (p.Gln3190Ter)
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.9825del (p.Gln3276fs)
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
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
NM_173543.3(DZIP1L):c.1061_1062del (p.Glu354fs) rs1135402756
NM_173543.3(DZIP1L):c.273G>C (p.Gln91His) rs1135402754
NM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter) rs1135402755
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del) rs750723025
NM_198334.3(GANAB):c.152_153del (p.Arg51fs) rs752158933
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs) rs879255641
NM_198334.3(GANAB):c.1936+1del
NM_198334.3(GANAB):c.224C>T (p.Thr75Met)
NM_198334.3(GANAB):c.2516C>T (p.Thr839Ile)
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
Single allele

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