ClinVar Miner

List of variants reported as pathogenic for Polycystic kidney disease, adult type

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 492
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met) rs368161263 0.00004
NM_001009944.3(PKD1):c.7065+9C>T rs765688834 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_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
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)
NC_000016.10:g.2092048_2092049dup rs1596482597
NM_001009944.2(PKD1):c.8017_8024delGGGCCCAG
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
NM_001009944.3(PKD1):c.1004_1019del (p.Ala335fs) rs2092667308
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.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.10724G>A (p.Trp3575Ter) rs1361283193
NM_001009944.3(PKD1):c.10725_10726dup (p.Val3576fs) rs2151708812
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.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.11200_11206del (p.Tyr3734fs) rs1567155179
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.11277C>G (p.Tyr3759Ter) rs369825780
NM_001009944.3(PKD1):c.11311_11312dup (p.Ala3772fs) rs2091620763
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.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.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.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.11800_11801del (p.Gly3934fs)
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.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.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.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.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.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.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.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.1385+1G>T
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.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.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.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.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.2308dup (p.Arg770fs) rs2092600549
NM_001009944.3(PKD1):c.2396_2421del (p.Arg799fs) rs2092598385
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
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.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.2659del (p.Trp887fs) rs2092593850
NM_001009944.3(PKD1):c.2674del (p.Thr892fs)
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs) rs1567210080
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.2784_2796del (p.Glu929fs)
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs) rs1596574774
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.288-2A>G rs2092684358
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.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.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.3543T>A (p.Tyr1181Ter) rs1057516206
NM_001009944.3(PKD1):c.3597_3601dup (p.Ala1201fs) rs2151800732
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter) rs2092506242
NM_001009944.3(PKD1):c.3684del (p.Val1229fs) rs2092503653
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.4177C>T (p.Gln1393Ter) rs1567201083
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.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.4485dup (p.Ala1496fs) rs2092478837
NM_001009944.3(PKD1):c.4550dup (p.Tyr1517Ter) rs2092477162
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.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.5290G>T (p.Glu1764Ter) rs753749502
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.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.5890del (p.Arg1964fs) rs2092440406
NM_001009944.3(PKD1):c.5921del (p.Leu1974fs) rs1596553527
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.601dup (p.His201fs) rs2151824362
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.6164dup (p.Glu2056fs) rs2151789587
NM_001009944.3(PKD1):c.616C>T (p.Gln206Ter)
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
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.6367C>T (p.Gln2123Ter) rs762911981
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.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.6549del (p.Glu2184fs)
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs) rs1596551138
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.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.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.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.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.7642G>T (p.Glu2548Ter) rs28369051
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter) rs2092321142
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.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.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.8098G>A (p.Ala2700Thr)
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.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.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
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.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.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.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.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.9584G>A (p.Trp3195Ter)
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) rs1596514027
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.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.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:c.(287+1_288-1)_(12003+1_12004-1)del
NM_024740.2(ALG9):c.681G>A (p.Trp227Ter) rs1592341222
Single allele

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