ClinVar Miner

List of variants in gene PKD1 reported as likely pathogenic for Polycystic kidney disease, adult type

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Gene type:
ClinVar version:
Total variants: 466
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_001009944.3(PKD1):c.6070C>T (p.Arg2024Cys) rs199943712 0.00005
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys) rs375006983 0.00002
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs) rs2091618729 0.00001
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter) rs1567148587 0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly) rs751293870 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191 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_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp) rs1384099162 0.00001
NM_001009944.3(PKD1):c.9986C>T (p.Ser3329Phe) rs1203304646 0.00001
NC_000016.10:g.2137318_2137960del
NC_000016.9:g.2149731_(2150568_2152061)del
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_001009944.3(PKD1):c.10051-1G>T rs1245329669
NM_001009944.3(PKD1):c.10051-2A>G
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10220+1G>C
NM_001009944.3(PKD1):c.10233G>A (p.Trp3411Ter) rs1300254603
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter) rs2151726823
NM_001009944.3(PKD1):c.10405G>A (p.Asp3469Asn)
NM_001009944.3(PKD1):c.10441del (p.Val3481fs) rs2091884240
NM_001009944.3(PKD1):c.10441dup (p.Val3481fs) rs2091884240
NM_001009944.3(PKD1):c.10694T>G (p.Leu3565Arg) rs2091727215
NM_001009944.3(PKD1):c.10698GGCTGT[1] (p.3567AV[1]) rs777460677
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu) rs2544650057
NM_001009944.3(PKD1):c.10804G>C (p.Gly3602Arg)
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys) rs2091722550
NM_001009944.3(PKD1):c.10821+1G>A rs1596488823
NM_001009944.3(PKD1):c.10822-2A>G rs2151707926
NM_001009944.3(PKD1):c.10822-3C>G rs2544648778
NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr) rs2091706456
NM_001009944.3(PKD1):c.10946C>G (p.Pro3649Arg) rs2091706289
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val) rs2544646868
NM_001009944.3(PKD1):c.11016+1G>C
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11017-1G>C
NM_001009944.3(PKD1):c.11017-25A>C rs2151704874
NM_001009944.3(PKD1):c.11017-25A>G rs2151704874
NM_001009944.3(PKD1):c.11017-47_11022del rs2091672168
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs) rs1596485991
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter) rs745912756
NM_001009944.3(PKD1):c.11122_11156+1del
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) rs546924823
NM_001009944.3(PKD1):c.11249G>C (p.Arg3750Pro) rs1327414405
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del) rs1567154953
NM_001009944.3(PKD1):c.11253G>T (p.Gln3751His) rs2544631346
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly) rs1167476946
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11269+1G>T rs2544631133
NM_001009944.3(PKD1):c.11270-1G>T
NM_001009944.3(PKD1):c.11289_11299del (p.Gly3764fs) rs2151699891
NM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs) rs2091620612
NM_001009944.3(PKD1):c.112del (p.Leu38fs) rs2092941002
NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs) rs1555446053
NM_001009944.3(PKD1):c.11308_11312dup (p.Ala3773fs)
NM_001009944.3(PKD1):c.1132C>T (p.Gln378Ter) rs2544877617
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del) rs2091618795
NM_001009944.3(PKD1):c.11341_11343del (p.Tyr3781del) rs2091619119
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp) rs2091618553
NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs) rs2091616873
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter) rs770667157
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys) rs138629093
NM_001009944.3(PKD1):c.11411+1G>T
NM_001009944.3(PKD1):c.11411+2T>C
NM_001009944.3(PKD1):c.11416T>G (p.Trp3806Gly) rs2091602155
NM_001009944.3(PKD1):c.11452G>C (p.Gly3818Arg)
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11453G>T (p.Gly3818Val)
NM_001009944.3(PKD1):c.11453del (p.Gly3818fs) rs1567153194
NM_001009944.3(PKD1):c.11467_11480del (p.Leu3823fs) rs2544620365
NM_001009944.3(PKD1):c.11537+2T>A rs2151697557
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) rs2151695909
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11565_11571dup (p.Ser3858fs) rs2091579496
NM_001009944.3(PKD1):c.11595_11605dup (p.Leu3869fs)
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg) rs1555445569
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) rs2091577195
NM_001009944.3(PKD1):c.11615A>T (p.Glu3872Val)
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs) rs2151695288
NM_001009944.3(PKD1):c.11657G>C (p.Arg3886Pro) rs773875298
NM_001009944.3(PKD1):c.11661del (p.Phe3888fs) rs2151695275
NM_001009944.3(PKD1):c.116G>A (p.Cys39Tyr) rs2151858290
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp) rs2091571469
NM_001009944.3(PKD1):c.11713-1G>T
NM_001009944.3(PKD1):c.11713-2A>T
NM_001009944.3(PKD1):c.11713-2_11718dup
NM_001009944.3(PKD1):c.11741dup (p.Ala3915fs) rs2544600517
NM_001009944.3(PKD1):c.11765_11790dup (p.Leu3931fs) rs2544599608
NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)
NM_001009944.3(PKD1):c.11819_11828dup (p.Leu3944fs)
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro) rs1424496188
NM_001009944.3(PKD1):c.11888G>A (p.Trp3963Ter)
NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)
NM_001009944.3(PKD1):c.11962dup (p.Arg3988fs)
NM_001009944.3(PKD1):c.11987_11988insA (p.Phe3996fs)
NM_001009944.3(PKD1):c.12003+1G>C
NM_001009944.3(PKD1):c.12004-2A>C rs2091475604
NM_001009944.3(PKD1):c.1201+1G>A rs1596588978
NM_001009944.3(PKD1):c.1202-11C>G
NM_001009944.3(PKD1):c.1202-1G>A rs2151822688
NM_001009944.3(PKD1):c.12020G>A (p.Arg4007His)
NM_001009944.3(PKD1):c.12162_12165del (p.Leu4055fs)
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs) rs2544588372
NM_001009944.3(PKD1):c.12246_12247del (p.Ser4083fs)
NM_001009944.3(PKD1):c.12267del (p.Leu4090fs) rs2544587268
NM_001009944.3(PKD1):c.12290dup (p.Ala4098fs)
NM_001009944.3(PKD1):c.12305_12324del (p.Gly4102fs)
NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs) rs2091440547
NM_001009944.3(PKD1):c.12332_12336del (p.His4111fs)
NM_001009944.3(PKD1):c.12357del (p.Pro4120fs)
NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12463T>C (p.Phe4155Leu)
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12475G>T (p.Glu4159Ter)
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12554C>A (p.Ser4185Ter)
NM_001009944.3(PKD1):c.12609del (p.Leu4204fs)
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12624_12625dup (p.Glu4209fs)
NM_001009944.3(PKD1):c.12657_12658delinsAT (p.Phe4219_Glu4220delinsLeuTer)
NM_001009944.3(PKD1):c.1265T>C (p.Leu422Pro) rs2092661241
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
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.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.12728_12756del (p.Leu4243fs)
NM_001009944.3(PKD1):c.12794del (p.Gly4265fs)
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr) rs2092660647
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1307G>T (p.Cys436Phe) rs2092660360
NM_001009944.3(PKD1):c.1312dup (p.Ala438fs) rs2544876023
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1396G>C (p.Val466Leu)
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1488delinsTC (p.Gly498fs)
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro) rs1293305047
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs) rs2151820655
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1543G>T (p.Gly515Trp) rs1555458704
NM_001009944.3(PKD1):c.1548del (p.Trp516fs)
NM_001009944.3(PKD1):c.1606+5G>A rs2092646077
NM_001009944.3(PKD1):c.1606+5G>T
NM_001009944.3(PKD1):c.1607-2A>C rs2544870219
NM_001009944.3(PKD1):c.1620_1621del (p.Ala541fs)
NM_001009944.3(PKD1):c.1653_1654dup (p.Asp552fs) rs2151819777
NM_001009944.3(PKD1):c.1722+1G>T rs1567214706
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.1723-1G>C rs1596582948
NM_001009944.3(PKD1):c.1830C>G (p.Tyr610Ter)
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val) rs781018494
NM_001009944.3(PKD1):c.2037del (p.Tyr680fs) rs2544860522
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs) rs1448641464
NM_001009944.3(PKD1):c.2078_2089dup (p.Ala696_Gln697insArgProProAla) rs2092614761
NM_001009944.3(PKD1):c.2081_2085dup (p.Ala696fs)
NM_001009944.3(PKD1):c.2093_2097+2del
NM_001009944.3(PKD1):c.2095T>C (p.Ser699Pro) rs2544860133
NM_001009944.3(PKD1):c.2096del (p.Ser699fs)
NM_001009944.3(PKD1):c.2097+1G>A rs2151816064
NM_001009944.3(PKD1):c.215+5G>A
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln) rs1616940
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.224C>T (p.Ser75Phe)
NM_001009944.3(PKD1):c.2262dup (p.Pro755fs) rs2544855475
NM_001009944.3(PKD1):c.2285G>A (p.Trp762Ter)
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser) rs2092686792
NM_001009944.3(PKD1):c.2427_2428del (p.His809fs)
NM_001009944.3(PKD1):c.2484C>A (p.Tyr828Ter) rs1402606705
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter) rs199476100
NM_001009944.3(PKD1):c.2543A>C (p.Gln848Pro)
NM_001009944.3(PKD1):c.2558_2634del (p.Ala853fs)
NM_001009944.3(PKD1):c.2667dup (p.Asn890fs) rs2092593686
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter) rs2151812964
NM_001009944.3(PKD1):c.2729_2730del (p.Asp910fs)
NM_001009944.3(PKD1):c.2730_2741del (p.Asp910_Val913del)
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.2865dup (p.Val956fs) rs2544845327
NM_001009944.3(PKD1):c.2877_2880del (p.Gly960fs) rs2151809215
NM_001009944.3(PKD1):c.290A>G (p.Asp97Gly) rs2092684310
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del) rs2544885084
NM_001009944.3(PKD1):c.2985+2_2985+4del
NM_001009944.3(PKD1):c.3015_3032del (p.Asn1008_Val1013del)
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.3034dup (p.Thr1012fs)
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.305_307del (p.Lys102del) rs1567219527
NM_001009944.3(PKD1):c.3075del (p.Thr1026fs)
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.3161+1G>T
NM_001009944.3(PKD1):c.3161+5G>C rs2092552533
NM_001009944.3(PKD1):c.3162-1G>C rs2544837759
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter) rs1596566550
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3218del (p.Glu1073fs) rs2544837286
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs) rs1596566156
NM_001009944.3(PKD1):c.3284A>G (p.Tyr1095Cys)
NM_001009944.3(PKD1):c.3295+1G>A
NM_001009944.3(PKD1):c.3296-4_3304del rs2544832042
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs) rs2544831329
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3466_3467dup (p.Leu1158fs)
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.3538_3539del (p.Thr1180fs)
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.359+5G>A rs2092683412
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.3665_3684delinsACATGA (p.Ala1222fs)
NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del) rs2092503169
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3741G>C (p.Met1247Ile)
NM_001009944.3(PKD1):c.3777_3778del (p.Val1260fs) rs2544827855
NM_001009944.3(PKD1):c.3804_3805del (p.Asn1269fs) rs1596561773
NM_001009944.3(PKD1):c.380T>G (p.Phe127Cys) rs2092679766
NM_001009944.3(PKD1):c.385T>C (p.Cys129Arg)
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro) rs2544827223
NM_001009944.3(PKD1):c.3865dup (p.Val1289fs)
NM_001009944.3(PKD1):c.3982T>C (p.Trp1328Arg)
NM_001009944.3(PKD1):c.3984G>C (p.Trp1328Cys) rs2151799171
NM_001009944.3(PKD1):c.3999del (p.Ser1334fs)
NM_001009944.3(PKD1):c.4070T>C (p.Leu1357Pro) rs2151798827
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.417G>C (p.Trp139Cys) rs2544883148
NM_001009944.3(PKD1):c.4234T>G (p.Tyr1412Asp)
NM_001009944.3(PKD1):c.4241G>C (p.Trp1414Ser) rs2151798259
NM_001009944.3(PKD1):c.4264del (p.Ala1422fs) rs2544823557
NM_001009944.3(PKD1):c.4296_4298del (p.Phe1433del)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4379T>G (p.Val1460Gly) rs2151797664
NM_001009944.3(PKD1):c.4462T>C (p.Ser1488Pro) rs773746552
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg) rs2092478372
NM_001009944.3(PKD1):c.4511del (p.Asp1504fs)
NM_001009944.3(PKD1):c.4550A>G (p.Tyr1517Cys)
NM_001009944.3(PKD1):c.458C>A (p.Ala153Asp) rs2092678870
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met) rs2544820023
NM_001009944.3(PKD1):c.4639dup (p.Arg1547fs)
NM_001009944.3(PKD1):c.4651del (p.Leu1551fs) rs2544819817
NM_001009944.3(PKD1):c.4696_4701del (p.Val1566_Ser1567del)
NM_001009944.3(PKD1):c.4746G>T (p.Trp1582Cys)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.4981_4983del (p.Asn1661del)
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del) rs1596556896
NM_001009944.3(PKD1):c.5115del (p.Ser1705fs) rs2544815125
NM_001009944.3(PKD1):c.5130_5146dup (p.Glu1716fs)
NM_001009944.3(PKD1):c.5271del (p.Gly1757_Leu1758insTer)
NM_001009944.3(PKD1):c.529+1G>A
NM_001009944.3(PKD1):c.529+3G>C
NM_001009944.3(PKD1):c.529+5G>A rs2544882689
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter) rs2544812084
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser) rs2151792963
NM_001009944.3(PKD1):c.5495G>T (p.Gly1832Val) rs2544812034
NM_001009944.3(PKD1):c.5515T>A (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5517G>A (p.Trp1839Ter)
NM_001009944.3(PKD1):c.5608A>C (p.Asn1870His)
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser) rs2544811132
NM_001009944.3(PKD1):c.5609A>T (p.Asn1870Ile)
NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter) rs1567196052
NM_001009944.3(PKD1):c.5707delinsGA (p.Gln1903fs)
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.5936_5949del (p.Cys1979fs) rs2544807269
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.6000_6001del (p.Arg2001fs) rs2544806868
NM_001009944.3(PKD1):c.6005T>A (p.Val2002Asp)
NM_001009944.3(PKD1):c.6124G>C (p.Ala2042Pro) rs556681288
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.3(PKD1):c.6280T>G (p.Trp2094Gly)
NM_001009944.3(PKD1):c.628T>C (p.Cys210Arg) rs2544880665
NM_001009944.3(PKD1):c.6292G>A (p.Asp2098Asn)
NM_001009944.3(PKD1):c.6293A>T (p.Asp2098Val)
NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr) rs2092673697
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp) rs2151788281
NM_001009944.3(PKD1):c.6384C>A (p.Asn2128Lys)
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys) rs1247882278
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr) rs1596590574
NM_001009944.3(PKD1):c.6420del (p.Val2141fs) rs2544803187
NM_001009944.3(PKD1):c.6421G>T (p.Val2141Phe)
NM_001009944.3(PKD1):c.6545_6603delinsGCTCG (p.Gln2182_Pro2201delinsArgSer) rs2544801847
NM_001009944.3(PKD1):c.655C>T (p.Gln219Ter) rs2092673393
NM_001009944.3(PKD1):c.6576_6582del (p.Cys2195fs)
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.664G>C (p.Ala222Pro)
NM_001009944.3(PKD1):c.6656C>G (p.Pro2219Arg)
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6701T>A (p.Val2234Glu) rs2092417183
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.6760G>A (p.Glu2254Lys)
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del) rs2544800298
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs) rs1567191145
NM_001009944.3(PKD1):c.6842C>T (p.Ser2281Phe)
NM_001009944.3(PKD1):c.6890A>C (p.His2297Pro)
NM_001009944.3(PKD1):c.6892T>G (p.Trp2298Gly)
NM_001009944.3(PKD1):c.689G>T (p.Cys230Phe)
NM_001009944.3(PKD1):c.692T>C (p.Leu231Pro)
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg) rs2151824152
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp) rs1114167370
NM_001009944.3(PKD1):c.6987_6988insATGGCGG (p.Leu2330fs) rs2544795860
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001009944.3(PKD1):c.7065+2T>C
NM_001009944.3(PKD1):c.7065+2del
NM_001009944.3(PKD1):c.7075del (p.Arg2359fs) rs2092358825
NM_001009944.3(PKD1):c.7088_7095dup (p.Val2366fs)
NM_001009944.3(PKD1):c.7108T>A (p.Cys2370Ser)
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7109G>A (p.Cys2370Tyr)
NM_001009944.3(PKD1):c.7115C>G (p.Ser2372Cys) rs2544784984
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr) rs2544784938
NM_001009944.3(PKD1):c.7209+1G>A
NM_001009944.3(PKD1):c.7209_7209+1delinsTT rs2544784180
NM_001009944.3(PKD1):c.7250T>C (p.Leu2417Pro)
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr) rs1555453207
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) rs1555453207
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln) rs2092344562
NM_001009944.3(PKD1):c.7298T>G (p.Leu2433Arg)
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7301_7312dup (p.Arg2434_Val2437dup) rs2092343785
NM_001009944.3(PKD1):c.7303_7317del (p.Arg2435_Arg2439del) rs2092343570
NM_001009944.3(PKD1):c.7313T>C (p.Leu2438Pro) rs2544781523
NM_001009944.3(PKD1):c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG (p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGly) rs2544781129
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg) rs2092338268
NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr) rs2544780036
NM_001009944.3(PKD1):c.7489+5G>A rs2092337963
NM_001009944.3(PKD1):c.7490-11C>G
NM_001009944.3(PKD1):c.7534del (p.Leu2512fs) rs2544778476
NM_001009944.3(PKD1):c.7535T>G (p.Leu2512Arg) rs2151772458
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del) rs1555452876
NM_001009944.3(PKD1):c.7584C>G (p.Tyr2528Ter)
NM_001009944.3(PKD1):c.7605C>A (p.Tyr2535Ter)
NM_001009944.3(PKD1):c.7638dup (p.Phe2547fs) rs2544777576
NM_001009944.3(PKD1):c.7664T>G (p.Val2555Gly) rs2544777388
NM_001009944.3(PKD1):c.7703+2T>A
NM_001009944.3(PKD1):c.7703+5G>C
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys) rs2092327300
NM_001009944.3(PKD1):c.7704-1G>A rs2544776487
NM_001009944.3(PKD1):c.7832_7835dup (p.Ala2614fs)
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del) rs2544775052
NM_001009944.3(PKD1):c.7864-1G>A rs2092305301
NM_001009944.3(PKD1):c.7892_7911del (p.Glu2631fs)
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter) rs778979740
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7957_7958del (p.Leu2653fs) rs2151766800
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.8005del (p.Ala2669fs) rs1596536546
NM_001009944.3(PKD1):c.8016+1G>A rs2544768869
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8161+2_8161+3delinsGT
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.8257_8260del (p.Tyr2753fs)
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer) rs2151756041
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8288T>C (p.Leu2763Pro) rs2092204260
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8299_8310del (p.Arg2767_Asn2770del)
NM_001009944.3(PKD1):c.8299dup (p.Arg2767fs) rs2151755878
NM_001009944.3(PKD1):c.8300G>C (p.Arg2767Pro) rs770080914
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu) rs1456510041
NM_001009944.3(PKD1):c.8304_8326del (p.Leu2769fs)
NM_001009944.3(PKD1):c.8353G>C (p.Gly2785Arg) rs2151755659
NM_001009944.3(PKD1):c.8354G>A (p.Gly2785Asp) rs2544745312
NM_001009944.3(PKD1):c.8426C>T (p.Pro2809Leu) rs2544744667
NM_001009944.3(PKD1):c.8447T>A (p.Leu2816Gln)
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.844_850del (p.Gly282fs)
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_001009944.3(PKD1):c.8498C>T (p.Pro2833Leu)
NM_001009944.3(PKD1):c.8554G>C (p.Ala2852Pro)
NM_001009944.3(PKD1):c.8555_8556del (p.Ala2852fs)
NM_001009944.3(PKD1):c.8558T>C (p.Phe2853Ser)
NM_001009944.3(PKD1):c.8606_8607del (p.Glu2869fs) rs2544742995
NM_001009944.3(PKD1):c.8757del (p.Leu2920fs) rs2544741352
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.8792-2A>C
NM_001009944.3(PKD1):c.8896G>T (p.Glu2966Ter) rs773129632
NM_001009944.3(PKD1):c.8909del (p.Gly2970fs) rs2544737008
NM_001009944.3(PKD1):c.8930C>T (p.Thr2977Ile)
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser) rs1596523677
NM_001009944.3(PKD1):c.8948+1del
NM_001009944.3(PKD1):c.8949-2A>C
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.8971T>G (p.Tyr2991Asp)
NM_001009944.3(PKD1):c.8978T>A (p.Leu2993Gln) rs1555450487
NM_001009944.3(PKD1):c.8998C>G (p.Arg3000Gly)
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.9045C>G (p.Cys3015Trp) rs1596522411
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg) rs2151750082
NM_001009944.3(PKD1):c.9097del (p.Leu3033fs)
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del) rs2544733084
NM_001009944.3(PKD1):c.9111_9132del (p.Arg3039fs)
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9201+4A>G
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9202-1G>A rs2151748829
NM_001009944.3(PKD1):c.9335G>A (p.Cys3112Tyr)
NM_001009944.3(PKD1):c.9355A>T (p.Lys3119Ter) rs1315416272
NM_001009944.3(PKD1):c.9365T>G (p.Ile3122Ser) rs2092119998
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
NM_001009944.3(PKD1):c.9411C>G (p.His3137Gln) rs750132441
NM_001009944.3(PKD1):c.9413T>A (p.Val3138Glu)
NM_001009944.3(PKD1):c.9415G>A (p.Gly3139Ser) rs1165123201
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9430G>C (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9431G>A (p.Gly3144Glu)
NM_001009944.3(PKD1):c.9454C>G (p.Arg3152Gly) rs776866974
NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs) rs1596514864
NM_001009944.3(PKD1):c.9504C>G (p.Phe3168Leu)
NM_001009944.3(PKD1):c.9513del (p.Thr3172fs) rs2544717941
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn) rs2092047055
NM_001009944.3(PKD1):c.9556C>G (p.His3186Asp)
NM_001009944.3(PKD1):c.9559G>A (p.Asp3187Asn)
NM_001009944.3(PKD1):c.9559G>T (p.Asp3187Tyr) rs754938191
NM_001009944.3(PKD1):c.9559_9561del (p.Asp3187del) rs2544717535
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9562A>T (p.Asn3188Tyr)
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9569-1G>A rs2151741177
NM_001009944.3(PKD1):c.9569-1G>T
NM_001009944.3(PKD1):c.9595_9618del (p.His3199_Gln3206del)
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe) rs1422698524
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9697dup (p.Glu3233fs) rs2544715201
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal) rs1057516202
NM_001009944.3(PKD1):c.9773_9787del (p.Phe3258_Ile3262del)
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser) rs1555449378
NM_001009944.3(PKD1):c.9789G>T (p.Trp3263Cys)
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr) rs1188643869
NM_001009944.3(PKD1):c.9806G>A (p.Arg3269Gln)
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9924-1G>C rs2151738493
NM_001009944.3(PKD1):c.[8279T>C;8282G>C8291T>C]

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