ClinVar Miner

List of variants in gene PKD1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1537
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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.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
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.4709C>T (p.Thr1570Met) rs368161263 0.00003
NM_001009944.3(PKD1):c.7065+9C>T rs765688834 0.00003
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro) rs1300272809 0.00002
NM_001009944.3(PKD1):c.8098G>A (p.Ala2700Thr) rs759568760 0.00002
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs) rs2091618729 0.00001
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 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.2545G>A (p.Val849Met) rs749138783 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.678G>A (p.Glu226=) rs2092673013 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.9412G>A (p.Val3138Met) rs1358566538 0.00001
GRCh37/hg19 16p13.3(chr16:2140675-2140809)
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
NC_000016.10:g.2092048_2092049dup rs1596482597
NC_000016.9:g.(2142594_2142954)_(2150568_2152061)del
NC_000016.9:g.(2160720_2160721)_(2164927_2165378)del
NC_000016.9:g.(2164927_2165378)_(2185900_?)del
NC_000016.9:g.(2169380_2185475)_(2185900_?)del
NM_000296.3:c.216-4133_5681del
NM_001009944.2(PKD1):c.12004delG rs2091475541
NM_001009944.2(PKD1):c.8017_8024delGGGCCCAG
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs) rs2544710685
NM_001009944.3(PKD1):c.10012dup (p.Leu3338fs)
NM_001009944.3(PKD1):c.10026del (p.Leu3343fs)
NM_001009944.3(PKD1):c.10026dup (p.Leu3343fs) rs1567169118
NM_001009944.3(PKD1):c.10031del (p.Phe3344fs) rs2092006545
NM_001009944.3(PKD1):c.1004_1019del (p.Ala335fs) rs2092667308
NM_001009944.3(PKD1):c.10066del (p.Ser3356fs)
NM_001009944.3(PKD1):c.10076del (p.Pro3359fs)
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) rs373222937
NM_001009944.3(PKD1):c.10140_10143del (p.Phe3380fs) rs2544693381
NM_001009944.3(PKD1):c.10151C>G (p.Ser3384Ter) rs1383556063
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.10183C>T (p.Gln3395Ter)
NM_001009944.3(PKD1):c.10188dup (p.Lys3397fs) rs2544692049
NM_001009944.3(PKD1):c.10189A>T (p.Lys3397Ter)
NM_001009944.3(PKD1):c.10203dup (p.Leu3402fs) rs2544691950
NM_001009944.3(PKD1):c.10219del (p.Ser3407fs) rs2151728391
NM_001009944.3(PKD1):c.1021dup (p.Ala341fs) rs2544878096
NM_001009944.3(PKD1):c.10220+2_10220+3del rs1114167366
NM_001009944.3(PKD1):c.10230_10231dup (p.Trp3411fs)
NM_001009944.3(PKD1):c.10232G>A (p.Trp3411Ter)
NM_001009944.3(PKD1):c.10233del (p.Trp3411fs) rs1596501760
NM_001009944.3(PKD1):c.10249delinsGTT (p.Thr3417fs)
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter) rs2151727019
NM_001009944.3(PKD1):c.10260_10279delinsAGCAGGT (p.Trp3420_Pro3427delinsTer)
NM_001009944.3(PKD1):c.10261_10264del (p.Pro3421fs) rs2544688790
NM_001009944.3(PKD1):c.10280_10289del (p.Pro3427fs)
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs) rs2151726918
NM_001009944.3(PKD1):c.10289_10305dup (p.Gln3436fs) rs2544688348
NM_001009944.3(PKD1):c.10292del (p.Gly3431fs)
NM_001009944.3(PKD1):c.102del (p.Glu34fs)
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter) rs2151726823
NM_001009944.3(PKD1):c.10307_10329del (p.Gln3436fs) rs2544688079
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs) rs2091891993
NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter) rs918228674
NM_001009944.3(PKD1):c.10321_10325del (p.Gln3441fs) rs2544688140
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter) rs780009030
NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs) rs2151726623
NM_001009944.3(PKD1):c.10387A>T (p.Lys3463Ter) rs150020128
NM_001009944.3(PKD1):c.10397C>G (p.Ser3466Ter) rs147464577
NM_001009944.3(PKD1):c.103_104delinsA (p.Pro35fs)
NM_001009944.3(PKD1):c.10405+1G>A
NM_001009944.3(PKD1):c.10405+1G>T
NM_001009944.3(PKD1):c.10417_10419delinsT (p.Ile3473fs) rs1567164013
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.10423C>T (p.Gln3475Ter) rs2544685880
NM_001009944.3(PKD1):c.10435G>T (p.Glu3479Ter)
NM_001009944.3(PKD1):c.10441del (p.Val3481fs) rs2091884240
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.10477del (p.Glu3493fs)
NM_001009944.3(PKD1):c.10487del (p.Leu3496fs) rs1555448106
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) rs2151710519
NM_001009944.3(PKD1):c.1051C>T (p.Gln351Ter)
NM_001009944.3(PKD1):c.10524_10525insT (p.Glu3509Ter)
NM_001009944.3(PKD1):c.10524dup (p.Glu3509fs) rs2151710478
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) rs1378307448
NM_001009944.3(PKD1):c.10527_10529delinsT (p.Glu3509fs)
NM_001009944.3(PKD1):c.10540C>T (p.Gln3514Ter) rs1567159623
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs) rs2151710347
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs) rs2151710316
NM_001009944.3(PKD1):c.10552G>T (p.Glu3518Ter)
NM_001009944.3(PKD1):c.10552_10585del (p.Glu3518fs) rs1567159386
NM_001009944.3(PKD1):c.10552del (p.Glu3518fs)
NM_001009944.3(PKD1):c.10560dup (p.Pro3521fs) rs1555447196
NM_001009944.3(PKD1):c.10563_10567del (p.Ser3523fs) rs2544654552
NM_001009944.3(PKD1):c.10573_10594dup (p.Gln3532fs) rs2544654195
NM_001009944.3(PKD1):c.1057G>T (p.Glu353Ter)
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter) rs1057516041
NM_001009944.3(PKD1):c.10588C>T (p.Gln3530Ter) rs1596490025
NM_001009944.3(PKD1):c.10594C>T (p.Gln3532Ter)
NM_001009944.3(PKD1):c.10594dup (p.Gln3532fs)
NM_001009944.3(PKD1):c.10598_10614del (p.Ala3533fs)
NM_001009944.3(PKD1):c.10615_10618+1del rs2544653894
NM_001009944.3(PKD1):c.10618+2T>C rs1555447153
NM_001009944.3(PKD1):c.10618+2T>G rs1555447153
NM_001009944.3(PKD1):c.10619-2A>G rs2544652543
NM_001009944.3(PKD1):c.10622dup (p.Val3542fs)
NM_001009944.3(PKD1):c.10652_10662del (p.Pro3551fs)
NM_001009944.3(PKD1):c.10653_10665dup (p.Ser3556fs)
NM_001009944.3(PKD1):c.10658G>A (p.Trp3553Ter) rs1321748065
NM_001009944.3(PKD1):c.10659del (p.Trp3553fs) rs1555447057
NM_001009944.3(PKD1):c.10669del (p.Leu3557fs)
NM_001009944.3(PKD1):c.10680del (p.Leu3561fs)
NM_001009944.3(PKD1):c.10691_10692del (p.Leu3564fs)
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10703_10728del (p.Val3568fs)
NM_001009944.3(PKD1):c.10709_10710del (p.Val3570fs)
NM_001009944.3(PKD1):c.10711dup (p.Ala3571fs) rs2544651236
NM_001009944.3(PKD1):c.10714_10717del (p.Val3572fs)
NM_001009944.3(PKD1):c.10722del (p.Trp3575fs)
NM_001009944.3(PKD1):c.10723dup (p.Trp3575fs)
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.10729_10732dup (p.Ala3578fs)
NM_001009944.3(PKD1):c.10733del (p.Ala3578fs) rs2091725538
NM_001009944.3(PKD1):c.10739_10740dup (p.Pro3581fs)
NM_001009944.3(PKD1):c.10745del (p.Pro3582fs)
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs) rs2151708652
NM_001009944.3(PKD1):c.10751dup (p.Ser3585fs)
NM_001009944.3(PKD1):c.10759dup (p.Ala3587fs)
NM_001009944.3(PKD1):c.10763G>A (p.Trp3588Ter)
NM_001009944.3(PKD1):c.10766_10767del (p.Leu3589fs)
NM_001009944.3(PKD1):c.1078_1088del (p.Glu360fs) rs1555459001
NM_001009944.3(PKD1):c.10803_10807del (p.Trp3603fs)
NM_001009944.3(PKD1):c.10821+1G>A rs1596488823
NM_001009944.3(PKD1):c.10821+1G>C
NM_001009944.3(PKD1):c.10822-1G>C rs2091715597
NM_001009944.3(PKD1):c.10822-30_10852del rs2544648459
NM_001009944.3(PKD1):c.10842C>A (p.Tyr3614Ter)
NM_001009944.3(PKD1):c.10842C>G (p.Tyr3614Ter) rs1367335682
NM_001009944.3(PKD1):c.10846_10847dup (p.Leu3617fs) rs2544648514
NM_001009944.3(PKD1):c.10895_10898del (p.Glu3632fs)
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.108dup (p.Cys37fs)
NM_001009944.3(PKD1):c.1091dup (p.Ser365fs)
NM_001009944.3(PKD1):c.10943dup (p.Pro3649fs)
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.10961_10982del (p.Leu3654fs) rs2544646598
NM_001009944.3(PKD1):c.10964_10965delinsAA (p.Phe3655Ter)
NM_001009944.3(PKD1):c.10964del (p.Phe3655fs) rs2544646806
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs) rs2544646762
NM_001009944.3(PKD1):c.10993_10994del (p.Lys3665fs)
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11002_11003dup (p.Gly3669fs) rs2544646304
NM_001009944.3(PKD1):c.1100del (p.Val367fs)
NM_001009944.3(PKD1):c.11016+1G>A rs2151707040
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11017-1G>T
NM_001009944.3(PKD1):c.11023del (p.Leu3675fs) rs2544639462
NM_001009944.3(PKD1):c.11033del (p.Met3678fs) rs1555446637
NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs) rs1555446611
NM_001009944.3(PKD1):c.1105_1106del (p.Gln368_Ser369insTer) rs2544877719
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs) rs2091670117
NM_001009944.3(PKD1):c.11088del (p.His3697fs)
NM_001009944.3(PKD1):c.11104C>T (p.Gln3702Ter)
NM_001009944.3(PKD1):c.11112_11119dup (p.Gln3707fs) rs2151704327
NM_001009944.3(PKD1):c.11115del (p.Lys3706fs)
NM_001009944.3(PKD1):c.11119C>T (p.Gln3707Ter) rs2091668243
NM_001009944.3(PKD1):c.1111G>T (p.Glu371Ter)
NM_001009944.3(PKD1):c.11134del (p.Arg3712fs)
NM_001009944.3(PKD1):c.11137dup (p.Ala3713fs) rs1555446582
NM_001009944.3(PKD1):c.11152_11153del (p.Thr3718fs) rs2544637927
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.11161dup (p.Glu3721fs) rs2151702333
NM_001009944.3(PKD1):c.11172G>A (p.Trp3724Ter)
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
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.11235dup (p.Pro3746fs) rs2544631623
NM_001009944.3(PKD1):c.11240del (p.Pro3747fs)
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.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11263C>T (p.Gln3755Ter) rs2091642103
NM_001009944.3(PKD1):c.11269+1G>C
NM_001009944.3(PKD1):c.11270-17_11346delinsCCG
NM_001009944.3(PKD1):c.11270-1G>A rs2151700092
NM_001009944.3(PKD1):c.11270-25_11316del rs2544625593
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs) rs1555446105
NM_001009944.3(PKD1):c.11277C>A (p.Tyr3759Ter)
NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter) rs369825780
NM_001009944.3(PKD1):c.11277_11280dup (p.Asp3761fs)
NM_001009944.3(PKD1):c.11280dup (p.Asp3761fs)
NM_001009944.3(PKD1):c.11286_11308del (p.Pro3763fs)
NM_001009944.3(PKD1):c.11289del (p.Gly3764fs)
NM_001009944.3(PKD1):c.11299_11342del (p.Val3767fs) rs2544625256
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) rs2544625519
NM_001009944.3(PKD1):c.11325_11344del (p.Phe3776fs)
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs) rs1555445999
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp) rs2091618553
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
NM_001009944.3(PKD1):c.11344_11366dup (p.His3789fs) rs2544624823
NM_001009944.3(PKD1):c.11344del (p.Asp3782fs) rs2091618928
NM_001009944.3(PKD1):c.11346del (p.Asp3782fs)
NM_001009944.3(PKD1):c.11352_11355del (p.Trp3785fs)
NM_001009944.3(PKD1):c.11352_11355dup (p.Glu3786fs)
NM_001009944.3(PKD1):c.11354G>A (p.Trp3785Ter)
NM_001009944.3(PKD1):c.11355G>A (p.Trp3785Ter)
NM_001009944.3(PKD1):c.11366_11369del (p.His3789fs)
NM_001009944.3(PKD1):c.1136dup (p.Asn379fs) rs2092665918
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter) rs770667157
NM_001009944.3(PKD1):c.11377_11395dup (p.Ala3799fs) rs2091614437
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11379dup (p.Thr3794fs)
NM_001009944.3(PKD1):c.11384G>A (p.Trp3795Ter) rs2151699315
NM_001009944.3(PKD1):c.11385G>A (p.Trp3795Ter) rs2544624559
NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs) rs2544624546
NM_001009944.3(PKD1):c.11388del (p.Tyr3797fs) rs2091615030
NM_001009944.3(PKD1):c.11389dup (p.Tyr3797fs)
NM_001009944.3(PKD1):c.11411+1G>C rs2091612821
NM_001009944.3(PKD1):c.11412-1G>A
NM_001009944.3(PKD1):c.11412-1G>C rs2544621386
NM_001009944.3(PKD1):c.11412-2A>C rs1555445771
NM_001009944.3(PKD1):c.11412-7_11468del rs2544620556
NM_001009944.3(PKD1):c.11418G>A (p.Trp3806Ter)
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11421dup (p.Trp3808fs)
NM_001009944.3(PKD1):c.11423G>A (p.Trp3808Ter) rs2544621217
NM_001009944.3(PKD1):c.11426dup (p.Ser3810fs) rs2091601824
NM_001009944.3(PKD1):c.11441_11459dup (p.Val3820_Gln3821insTer)
NM_001009944.3(PKD1):c.11443del (p.Asp3815fs)
NM_001009944.3(PKD1):c.11452_11453del (p.Gly3818fs)
NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs) rs1567153194
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.11471del (p.Gly3824fs) rs2544620523
NM_001009944.3(PKD1):c.11488_11489del (p.Ser3830fs) rs2544620270
NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter) rs1286585831
NM_001009944.3(PKD1):c.11502_11506del (p.Arg3835fs)
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.11526G>A (p.Trp3842Ter) rs2544619656
NM_001009944.3(PKD1):c.11528dup (p.Asp3844fs)
NM_001009944.3(PKD1):c.11538-2A>C rs2544615836
NM_001009944.3(PKD1):c.11538-2del rs1555445595
NM_001009944.3(PKD1):c.11538-51_11554del rs2544615546
NM_001009944.3(PKD1):c.11547_11610del (p.Val3850fs)
NM_001009944.3(PKD1):c.11552_11557del (p.Phe3851_Glu3853delinsTer) rs2544615479
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.11567_11568del (p.Arg3856fs) rs2544615278
NM_001009944.3(PKD1):c.11578_11593del (p.Ala3860fs)
NM_001009944.3(PKD1):c.11579_11582del (p.Ala3860fs)
NM_001009944.3(PKD1):c.11580_11581delinsT (p.Val3861fs)
NM_001009944.3(PKD1):c.11586dup (p.Leu3863fs)
NM_001009944.3(PKD1):c.11588_11592del (p.Leu3863fs)
NM_001009944.3(PKD1):c.11591dup (p.His3864fs)
NM_001009944.3(PKD1):c.11614G>T (p.Glu3872Ter)
NM_001009944.3(PKD1):c.11621del (p.Pro3874fs) rs2151695543
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs) rs2151695526
NM_001009944.3(PKD1):c.11626_11653del (p.Ala3876fs) rs2544614209
NM_001009944.3(PKD1):c.11628_11629insA (p.Gly3877fs) rs2091576236
NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs) rs2544614330
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs) rs2151695288
NM_001009944.3(PKD1):c.11649_11662del (p.Ser3884fs) rs1596480112
NM_001009944.3(PKD1):c.11650del (p.Ser3884fs) rs2544614260
NM_001009944.3(PKD1):c.1165_1167delinsAT (p.Tyr389fs)
NM_001009944.3(PKD1):c.11674_11676delinsTT (p.Arg3892fs)
NM_001009944.3(PKD1):c.11674_11695del (p.Arg3892fs) rs2544613573
NM_001009944.3(PKD1):c.11685_11695del (p.Gly3896fs)
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.11693_11702del (p.Ser3898fs) rs2544613308
NM_001009944.3(PKD1):c.11703dup (p.Leu3902fs) rs2544613272
NM_001009944.3(PKD1):c.11711C>A (p.Ser3904Ter)
NM_001009944.3(PKD1):c.11712+1G>A
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.11713-2A>G rs1555445274
NM_001009944.3(PKD1):c.11716dup (p.Cys3906fs)
NM_001009944.3(PKD1):c.1171dup (p.Ile391fs) rs2092665584
NM_001009944.3(PKD1):c.11722dup (p.Leu3908fs) rs2544600781
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.11726_11733delinsGCAGCAGGCGAAGTGGCAGCA (p.Leu3909fs)
NM_001009944.3(PKD1):c.11729_11747del (p.Phe3910fs) rs2544600433
NM_001009944.3(PKD1):c.11729delinsGCA (p.Phe3910fs)
NM_001009944.3(PKD1):c.11752G>T (p.Glu3918Ter) rs1555445229
NM_001009944.3(PKD1):c.11765G>A (p.Trp3922Ter)
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11769dup (p.Arg3924fs)
NM_001009944.3(PKD1):c.11773G>T (p.Glu3925Ter) rs1425693814
NM_001009944.3(PKD1):c.11778dup (p.Arg3927fs) rs2544599759
NM_001009944.3(PKD1):c.11783G>A (p.Trp3928Ter) rs764746483
NM_001009944.3(PKD1):c.11784G>A (p.Trp3928Ter) rs759035704
NM_001009944.3(PKD1):c.11797del (p.Leu3933fs)
NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs) rs1555445192
NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)
NM_001009944.3(PKD1):c.11800_11801del (p.Gly3934fs) rs2544599434
NM_001009944.3(PKD1):c.11805dup (p.Trp3936fs) rs2544599360
NM_001009944.3(PKD1):c.11814del (p.Trp3939fs)
NM_001009944.3(PKD1):c.11816G>A (p.Trp3939Ter) rs2544599226
NM_001009944.3(PKD1):c.11824_11878dup (p.Asp3960delinsGlyGlyAlaAspGlyGlyHisGlyThrGlyThrProArgProAlaGlyCysArgTer)
NM_001009944.3(PKD1):c.1183_1195dup (p.Ala399fs)
NM_001009944.3(PKD1):c.11847_11866del (p.Leu3950fs)
NM_001009944.3(PKD1):c.11853dup (p.Arg3952fs) rs2091493781
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro) rs1424496188
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.11864_11865delinsC (p.Gln3955fs)
NM_001009944.3(PKD1):c.11881_11981del (p.Arg3961fs) rs2544596612
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) rs1596476503
NM_001009944.3(PKD1):c.11888G>A (p.Trp3963Ter)
NM_001009944.3(PKD1):c.11889G>A (p.Trp3963Ter) rs2091491322
NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)
NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967fs) rs886040959
NM_001009944.3(PKD1):c.11912del (p.Pro3971fs) rs1555445123
NM_001009944.3(PKD1):c.11913_11916dup (p.Arg3973fs)
NM_001009944.3(PKD1):c.11930dup (p.Asp3978fs) rs2151686766
NM_001009944.3(PKD1):c.11932_11939delinsACG (p.Asp3978fs)
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter) rs2544597444
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.11973_11980dup (p.Leu3994fs)
NM_001009944.3(PKD1):c.11976_11983dup (p.Leu3995fs)
NM_001009944.3(PKD1):c.11984dup (p.Phe3996fs) rs2091483332
NM_001009944.3(PKD1):c.11989del (p.Leu3997fs) rs2544596466
NM_001009944.3(PKD1):c.11995_11996dup (p.Leu3999fs) rs2544596335
NM_001009944.3(PKD1):c.11996dup (p.Leu3999fs)
NM_001009944.3(PKD1):c.1199del (p.Arg400fs) rs2092665134
NM_001009944.3(PKD1):c.12003+1G>T
NM_001009944.3(PKD1):c.12004-1G>A rs2544594493
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.1201+1G>C
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
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.12054_12055del (p.Leu4019fs) rs2544593424
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs) rs2544593252
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12068dup (p.Pro4024fs) rs2544593076
NM_001009944.3(PKD1):c.1206_1207del (p.His403fs) rs1567216675
NM_001009944.3(PKD1):c.12100del (p.Val4034fs) rs2544592433
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12138+1G>C rs2151684070
NM_001009944.3(PKD1):c.12138+2T>A
NM_001009944.3(PKD1):c.12139-1G>A
NM_001009944.3(PKD1):c.12139-2A>C rs2091453268
NM_001009944.3(PKD1):c.12143_12144insTT (p.Ser4049fs) rs2544589581
NM_001009944.3(PKD1):c.12144_12145del (p.Ser4049fs) rs2544589539
NM_001009944.3(PKD1):c.12148del (p.Ser4050fs)
NM_001009944.3(PKD1):c.12155_12156del (p.Val4052fs)
NM_001009944.3(PKD1):c.12164dup (p.Trp4056fs)
NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter) rs2151682538
NM_001009944.3(PKD1):c.12168G>A (p.Trp4056Ter)
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter) rs2091450305
NM_001009944.3(PKD1):c.12178dup (p.Gln4060fs)
NM_001009944.3(PKD1):c.12181del (p.Ala4061fs)
NM_001009944.3(PKD1):c.12184_12185del (p.Leu4062fs)
NM_001009944.3(PKD1):c.12198C>A (p.Cys4066Ter)
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs) rs2544588372
NM_001009944.3(PKD1):c.12217_12221del (p.Thr4073fs) rs1567146946
NM_001009944.3(PKD1):c.12220_12221del (p.Leu4074fs)
NM_001009944.3(PKD1):c.12221dup (p.Cys4075fs)
NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs) rs1555444715
NM_001009944.3(PKD1):c.12232del (p.Glu4078fs) rs2091446343
NM_001009944.3(PKD1):c.12237dup (p.Trp4080fs)
NM_001009944.3(PKD1):c.12239G>A (p.Trp4080Ter)
NM_001009944.3(PKD1):c.12252_12253del (p.Leu4085fs)
NM_001009944.3(PKD1):c.12261T>A (p.Cys4087Ter) rs199476097
NM_001009944.3(PKD1):c.12267del (p.Leu4090fs) rs2544587268
NM_001009944.3(PKD1):c.12273G>A (p.Trp4091Ter)
NM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs) rs1555444648
NM_001009944.3(PKD1):c.12287G>A (p.Trp4096Ter)
NM_001009944.3(PKD1):c.12301dup (p.Leu4101fs)
NM_001009944.3(PKD1):c.12307del (p.Ala4103fs) rs2091442608
NM_001009944.3(PKD1):c.12308del (p.Ala4103fs)
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) rs1060499718
NM_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs) rs1555444602
NM_001009944.3(PKD1):c.12310del (p.Val4104fs)
NM_001009944.3(PKD1):c.12323G>A (p.Trp4108Ter) rs2544586222
NM_001009944.3(PKD1):c.1232_1251dup (p.His418fs) rs2092661595
NM_001009944.3(PKD1):c.12334_12335insGG (p.Ala4112fs) rs2522733776
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs) rs2091440383
NM_001009944.3(PKD1):c.12348del (p.Glu4116fs) rs1596473420
NM_001009944.3(PKD1):c.12354C>A (p.Tyr4118Ter) rs1188292999
NM_001009944.3(PKD1):c.12365G>A (p.Trp4122Ter) rs2091438383
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12381C>A (p.Tyr4127Ter) rs756212622
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter) rs756212622
NM_001009944.3(PKD1):c.12382G>T (p.Glu4128Ter) rs1596473289
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs) rs2151680679
NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del) rs2544585102
NM_001009944.3(PKD1):c.12390_12393del (p.Glu4131fs)
NM_001009944.3(PKD1):c.123_129del (p.Gly44fs) rs2544960411
NM_001009944.3(PKD1):c.123_129dup (p.Gly44fs)
NM_001009944.3(PKD1):c.12400del (p.Leu4134fs)
NM_001009944.3(PKD1):c.12403dup (p.Arg4135fs) rs2091435565
NM_001009944.3(PKD1):c.12410T>C (p.Leu4137Pro)
NM_001009944.3(PKD1):c.12420G>A (p.Trp4140Ter) rs199476102
NM_001009944.3(PKD1):c.12442dup (p.Glu4148fs)
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.12497_12507del (p.Ser4165_Ser4166insTer) rs2544580431
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs) rs1555444249
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.1251del (p.His418fs)
NM_001009944.3(PKD1):c.12531del (p.Ser4179fs)
NM_001009944.3(PKD1):c.1254dup (p.Cys419fs)
NM_001009944.3(PKD1):c.12557_12558del (p.His4186fs)
NM_001009944.3(PKD1):c.12570dup (p.Ser4191fs) rs2544579371
NM_001009944.3(PKD1):c.12577C>T (p.Gln4193Ter) rs2544579185
NM_001009944.3(PKD1):c.12581dup (p.Asp4195fs)
NM_001009944.3(PKD1):c.12586_12589del (p.Asp4195_Gly4196insTer)
NM_001009944.3(PKD1):c.12591_12592insGGCCG (p.Ser4198fs)
NM_001009944.3(PKD1):c.12596_12600dup (p.Leu4201Ter)
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs) rs2544578714
NM_001009944.3(PKD1):c.12596dup (p.Ser4200fs)
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs) rs2091400717
NM_001009944.3(PKD1):c.12605del (p.Gly4202fs) rs2544578863
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs) rs2544578227
NM_001009944.3(PKD1):c.12615dup (p.Thr4206fs) rs2544578657
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12633del (p.Glu4211fs) rs2091400232
NM_001009944.3(PKD1):c.12646C>T (p.Gln4216Ter)
NM_001009944.3(PKD1):c.12656dup (p.Glu4220fs)
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.12682del (p.Arg4228fs)
NM_001009944.3(PKD1):c.12682dup (p.Arg4228fs) rs2544576934
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12711C>G (p.Tyr4237Ter) rs906771712
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.12739C>T (p.Gln4247Ter) rs2091390332
NM_001009944.3(PKD1):c.1276A>T (p.Lys426Ter)
NM_001009944.3(PKD1):c.1277dup (p.Ala427fs)
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu) rs1567216472
NM_001009944.3(PKD1):c.1291C>T (p.Gln431Ter) rs2544876167
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1297C>T (p.Gln433Ter) rs2544876107
NM_001009944.3(PKD1):c.1303C>T (p.Gln435Ter) rs2092660457
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs) rs1555458891
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.1355_1361del (p.Val452fs)
NM_001009944.3(PKD1):c.1357C>T (p.Gln453Ter)
NM_001009944.3(PKD1):c.1385+1G>C
NM_001009944.3(PKD1):c.1385+1G>T rs2544875657
NM_001009944.3(PKD1):c.1386-2A>G rs2544872834
NM_001009944.3(PKD1):c.1391del (p.Leu464fs) rs2092649198
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs) rs2544960791
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.1400_1410del (p.Trp467fs) rs1567215697
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1420C>T (p.Gln474Ter) rs1567215646
NM_001009944.3(PKD1):c.1426del (p.Val476fs) rs2544872575
NM_001009944.3(PKD1):c.1429G>T (p.Glu477Ter) rs1346411637
NM_001009944.3(PKD1):c.1442_1445dup (p.Gln483fs)
NM_001009944.3(PKD1):c.1447C>T (p.Gln483Ter)
NM_001009944.3(PKD1):c.1458dup (p.Phe487fs)
NM_001009944.3(PKD1):c.1491del (p.Glu499fs) rs2092648005
NM_001009944.3(PKD1):c.1491dup (p.Gly498fs) rs2092648005
NM_001009944.3(PKD1):c.1505del (p.Pro502fs)
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1524C>A (p.Cys508Ter)
NM_001009944.3(PKD1):c.1528_1546del (p.Arg510fs)
NM_001009944.3(PKD1):c.1538_1539delinsG (p.Pro513fs) rs2544871993
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1546del (p.Trp516fs) rs2544871950
NM_001009944.3(PKD1):c.1547G>A (p.Trp516Ter)
NM_001009944.3(PKD1):c.1548G>A (p.Trp516Ter) rs2151820663
NM_001009944.3(PKD1):c.1551dup (p.Asn518Ter)
NM_001009944.3(PKD1):c.155C>A (p.Ser52Ter) rs2092940490
NM_001009944.3(PKD1):c.1564_1565del (p.Cys522fs)
NM_001009944.3(PKD1):c.1568C>G (p.Ser523Ter)
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.1584del (p.Ser527_Tyr528insTer) rs2527408768
NM_001009944.3(PKD1):c.1588_1592del (p.Cys530fs) rs2544871731
NM_001009944.3(PKD1):c.1589G>A (p.Cys530Tyr) rs2544871753
NM_001009944.3(PKD1):c.1595_1598dup (p.Gln533fs)
NM_001009944.3(PKD1):c.15_31del (p.Pro6fs)
NM_001009944.3(PKD1):c.1606+1G>A rs2151820539
NM_001009944.3(PKD1):c.1606+1G>T
NM_001009944.3(PKD1):c.1606+2T>G rs2544871660
NM_001009944.3(PKD1):c.1606+5G>A rs2092646077
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs) rs3072277
NM_001009944.3(PKD1):c.160_166dup (p.Leu56fs)
NM_001009944.3(PKD1):c.1628dup (p.Asn543fs) rs2544870113
NM_001009944.3(PKD1):c.1640del (p.Gly547fs)
NM_001009944.3(PKD1):c.1654del (p.Asp552fs) rs2151819777
NM_001009944.3(PKD1):c.1658_1667dup (p.Leu557fs)
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.165_171dup (p.Thr58fs)
NM_001009944.3(PKD1):c.165dup (p.Leu56fs)
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter) rs2544869877
NM_001009944.3(PKD1):c.1662_1678delinsCAG (p.Gln554fs)
NM_001009944.3(PKD1):c.1663G>T (p.Gly555Ter) rs2092640827
NM_001009944.3(PKD1):c.1669_1670del (p.Leu557fs) rs1397649778
NM_001009944.3(PKD1):c.1669dup (p.Leu557fs) rs2092640687
NM_001009944.3(PKD1):c.1681del (p.Ala561fs)
NM_001009944.3(PKD1):c.1684C>T (p.Gln562Ter)
NM_001009944.3(PKD1):c.1687C>T (p.Gln563Ter) rs1064794207
NM_001009944.3(PKD1):c.1699_1700del (p.Ala568fs) rs2544869651
NM_001009944.3(PKD1):c.1700C>G (p.Ser567Ter) rs765817015
NM_001009944.3(PKD1):c.1720G>T (p.Glu574Ter)
NM_001009944.3(PKD1):c.1722+1G>A rs1567214706
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.1723-1G>A rs1596582948
NM_001009944.3(PKD1):c.1723-2A>C
NM_001009944.3(PKD1):c.1723-2A>G rs1567214052
NM_001009944.3(PKD1):c.1768_1769del (p.Thr590fs)
NM_001009944.3(PKD1):c.176_206del (p.Leu59fs) rs2092939869
NM_001009944.3(PKD1):c.1772del (p.Thr591fs) rs1567213901
NM_001009944.3(PKD1):c.1789C>T (p.Gln597Ter)
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.1850-1G>A rs2544861967
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter) rs1348307652
NM_001009944.3(PKD1):c.1907_1916dup (p.Cys640fs)
NM_001009944.3(PKD1):c.1926del (p.Gly644fs)
NM_001009944.3(PKD1):c.1930G>T (p.Gly644Ter)
NM_001009944.3(PKD1):c.1931del (p.Gly644fs) rs1596580483
NM_001009944.3(PKD1):c.1937G>A (p.Trp646Ter)
NM_001009944.3(PKD1):c.1938G>A (p.Trp646Ter)
NM_001009944.3(PKD1):c.1938dup (p.Cys647fs)
NM_001009944.3(PKD1):c.1944dup (p.Gly649fs) rs2544861242
NM_001009944.3(PKD1):c.195_196insGACC (p.Pro66fs) rs2092939979
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter) rs2544860881
NM_001009944.3(PKD1):c.1987del (p.Gln663fs) rs1238458888
NM_001009944.3(PKD1):c.1A>C (p.Met1Leu)
NM_001009944.3(PKD1):c.1A>T (p.Met1Leu)
NM_001009944.3(PKD1):c.2032del (p.Ala678fs) rs2092615974
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs) rs1448641464
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter) rs1174034883
NM_001009944.3(PKD1):c.2049G>A (p.Trp683Ter)
NM_001009944.3(PKD1):c.2050A>T (p.Arg684Ter) rs1416326519
NM_001009944.3(PKD1):c.2053G>T (p.Glu685Ter)
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs) rs2151816205
NM_001009944.3(PKD1):c.2079del (p.Ala696fs) rs1057518923
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+211_6915+1del
NM_001009944.3(PKD1):c.2097+2T>C rs2092614697
NM_001009944.3(PKD1):c.2098-1G>C rs1567211807
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.2143_6915+1del
NM_001009944.3(PKD1):c.215+1G>C rs1555462433
NM_001009944.3(PKD1):c.215+1G>T rs1555462433
NM_001009944.3(PKD1):c.215+2T>G rs2544960078
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.2169_2170delinsA (p.Gly724fs)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2210del (p.Gly737fs)
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) rs747483368
NM_001009944.3(PKD1):c.2226C>G (p.Tyr742Ter)
NM_001009944.3(PKD1):c.2232del (p.Ala745fs)
NM_001009944.3(PKD1):c.2246C>G (p.Ser749Ter)
NM_001009944.3(PKD1):c.2250G>A (p.Trp750Ter) rs2092601367
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter) rs775710328
NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs) rs2092600667
NM_001009944.3(PKD1):c.2298_2308del (p.Cys767fs) rs1567211181
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs) rs2092600549
NM_001009944.3(PKD1):c.235del (p.Leu79fs) rs2544886159
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.2401_2410dup (p.Asn804fs)
NM_001009944.3(PKD1):c.2414del (p.Gly805fs) rs2544854273
NM_001009944.3(PKD1):c.2436del (p.Cys813fs)
NM_001009944.3(PKD1):c.2439C>A (p.Cys813Ter) rs746720158
NM_001009944.3(PKD1):c.2494del (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.24_27dup (p.Ala10fs)
NM_001009944.3(PKD1):c.2511C>G (p.Tyr837Ter)
NM_001009944.3(PKD1):c.2524_2525dup (p.Ser843fs)
NM_001009944.3(PKD1):c.2528C>G (p.Ser843Ter) rs2092596212
NM_001009944.3(PKD1):c.252dup (p.Gly85fs)
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter) rs199476100
NM_001009944.3(PKD1):c.2542C>T (p.Gln848Ter) rs2092595963
NM_001009944.3(PKD1):c.2552_2553del (p.Ser851fs) rs2544853323
NM_001009944.3(PKD1):c.2553_2554del (p.Gly852fs)
NM_001009944.3(PKD1):c.2563del (p.Ala855fs)
NM_001009944.3(PKD1):c.2605del (p.Arg869fs) rs2092594790
NM_001009944.3(PKD1):c.2609_2610dup (p.Glu871fs)
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs) rs1596575646
NM_001009944.3(PKD1):c.2618_2622dup (p.Pro875fs)
NM_001009944.3(PKD1):c.2622C>A (p.Cys874Ter) rs2544852828
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.2663del (p.Glu888fs)
NM_001009944.3(PKD1):c.2674del (p.Thr892fs) rs2544852424
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.2684C>A (p.Ser895Ter) rs2544852332
NM_001009944.3(PKD1):c.2684C>G (p.Ser895Ter)
NM_001009944.3(PKD1):c.2688_2698del (p.Leu899fs) rs2544852242
NM_001009944.3(PKD1):c.268del (p.Leu90fs)
NM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter) rs2092592999
NM_001009944.3(PKD1):c.2703G>A (p.Trp901Ter)
NM_001009944.3(PKD1):c.2709_2712del (p.Ser903fs)
NM_001009944.3(PKD1):c.2711_2712del (p.Glu904fs)
NM_001009944.3(PKD1):c.2719dup (p.His907fs)
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter) rs1339097856
NM_001009944.3(PKD1):c.2732_2753dup (p.Arg919fs)
NM_001009944.3(PKD1):c.2777_2789del (p.Val926fs) rs2092590647
NM_001009944.3(PKD1):c.2781_2782insAG (p.Ala928fs) rs1596574987
NM_001009944.3(PKD1):c.2784_2796del (p.Glu929fs) rs2544851545
NM_001009944.3(PKD1):c.2801del (p.Gly934fs)
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs) rs1596574774
NM_001009944.3(PKD1):c.2837dup (p.Gln947fs)
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter) rs763199691
NM_001009944.3(PKD1):c.2842_2843delinsC (p.Gly948fs)
NM_001009944.3(PKD1):c.2848del (p.Val949_Leu950insTer)
NM_001009944.3(PKD1):c.2850del (p.Leu950_Val951insTer) rs2544851099
NM_001009944.3(PKD1):c.2852del (p.Val951fs)
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.2854-2A>G rs1555457488
NM_001009944.3(PKD1):c.2867dup (p.Val957fs) rs1567208136
NM_001009944.3(PKD1):c.288-1G>C
NM_001009944.3(PKD1):c.288-2A>G rs2092684358
NM_001009944.3(PKD1):c.2900G>A (p.Trp967Ter)
NM_001009944.3(PKD1):c.290del (p.Asp97fs) rs2092684328
NM_001009944.3(PKD1):c.2911_2914dup (p.Lys972fs)
NM_001009944.3(PKD1):c.2914A>T (p.Lys972Ter) rs2092566273
NM_001009944.3(PKD1):c.2917C>T (p.Gln973Ter)
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.2952_2955del (p.Tyr986fs) rs2544844866
NM_001009944.3(PKD1):c.2958_2959del (p.Tyr986_Gln987delinsTer)
NM_001009944.3(PKD1):c.2960_2973del (p.Gln987fs)
NM_001009944.3(PKD1):c.2961_2977del (p.Ser988fs)
NM_001009944.3(PKD1):c.2962_2963del (p.Ser988fs) rs2544844831
NM_001009944.3(PKD1):c.2962_2985+1del rs2544844679
NM_001009944.3(PKD1):c.2966_2967insCC (p.Ala990fs) rs1567207841
NM_001009944.3(PKD1):c.2966_2970del (p.Ala989fs) rs2544844747
NM_001009944.3(PKD1):c.2966_2985+48del
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs) rs2544844763
NM_001009944.3(PKD1):c.2968dup (p.Ala990fs)
NM_001009944.3(PKD1):c.2984C>G (p.Ser995Ter)
NM_001009944.3(PKD1):c.2985+1G>A
NM_001009944.3(PKD1):c.2986-1G>A rs2092557654
NM_001009944.3(PKD1):c.2986-2A>G
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.3094del (p.Ser1032fs)
NM_001009944.3(PKD1):c.3105_3109del (p.Thr1036fs)
NM_001009944.3(PKD1):c.3106dup (p.Thr1036fs)
NM_001009944.3(PKD1):c.3121del (p.Ala1041fs)
NM_001009944.3(PKD1):c.3124_3127dup (p.Val1043fs)
NM_001009944.3(PKD1):c.3128del (p.Val1043fs) rs1567206632
NM_001009944.3(PKD1):c.3148G>T (p.Glu1050Ter)
NM_001009944.3(PKD1):c.3160del (p.Leu1054fs) rs2544840995
NM_001009944.3(PKD1):c.3161+1G>C rs2544840964
NM_001009944.3(PKD1):c.3162-1G>A rs2544837759
NM_001009944.3(PKD1):c.3162-1G>T rs2544837759
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter) rs1596566550
NM_001009944.3(PKD1):c.3168del (p.Phe1057fs)
NM_001009944.3(PKD1):c.3171_3172del (p.Phe1057fs) rs2151804597
NM_001009944.3(PKD1):c.3181G>T (p.Glu1061Ter)
NM_001009944.3(PKD1):c.3182dup (p.Gln1062fs)
NM_001009944.3(PKD1):c.3184C>T (p.Gln1062Ter) rs1231492796
NM_001009944.3(PKD1):c.3196C>T (p.Gln1066Ter)
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.3213C>G (p.Tyr1071Ter)
NM_001009944.3(PKD1):c.3217_3218insTTCGG (p.Glu1073fs)
NM_001009944.3(PKD1):c.3218dup (p.Ser1074fs)
NM_001009944.3(PKD1):c.322G>T (p.Glu108Ter) rs1416011785
NM_001009944.3(PKD1):c.3240dup (p.Ser1081fs)
NM_001009944.3(PKD1):c.3242C>A (p.Ser1081Ter)
NM_001009944.3(PKD1):c.3244dup (p.Val1082fs)
NM_001009944.3(PKD1):c.3247_3253del (p.Ala1083fs) rs1567205637
NM_001009944.3(PKD1):c.3250C>T (p.Gln1084Ter) rs1373028227
NM_001009944.3(PKD1):c.3267del (p.His1089fs)
NM_001009944.3(PKD1):c.3282del (p.Tyr1095fs)
NM_001009944.3(PKD1):c.3285C>A (p.Tyr1095Ter) rs558648661
NM_001009944.3(PKD1):c.3294_3295+5del
NM_001009944.3(PKD1):c.3295+1G>C rs2092536130
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.3296-1G>C rs1567204631
NM_001009944.3(PKD1):c.3296-2A>G
NM_001009944.3(PKD1):c.3296-4_3304del rs2544832042
NM_001009944.3(PKD1):c.330del (p.Phe111fs) rs2151826084
NM_001009944.3(PKD1):c.3332_3334del (p.Phe1111_Glu1112delinsTer)
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.3356dup (p.Val1120fs)
NM_001009944.3(PKD1):c.3370_3371dup (p.Ser1125fs)
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs) rs2544831329
NM_001009944.3(PKD1):c.3388_3395dup (p.Val1133fs)
NM_001009944.3(PKD1):c.3398_3399del (p.Val1133fs)
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.341_345del (p.Asn113_Leu114insTer) rs2544884834
NM_001009944.3(PKD1):c.3420del (p.Gly1141fs)
NM_001009944.3(PKD1):c.3424del (p.Arg1142fs)
NM_001009944.3(PKD1):c.3425_3428dup (p.Val1144fs) rs2544830957
NM_001009944.3(PKD1):c.3441C>A (p.Tyr1147Ter) rs762887911
NM_001009944.3(PKD1):c.3441C>G (p.Tyr1147Ter) rs762887911
NM_001009944.3(PKD1):c.3462del (p.Gly1156fs)
NM_001009944.3(PKD1):c.3477C>G (p.Tyr1159Ter)
NM_001009944.3(PKD1):c.3482G>A (p.Trp1161Ter) rs1205064584
NM_001009944.3(PKD1):c.3489del (p.Phe1163fs)
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3503dup (p.Val1169fs) rs1555456661
NM_001009944.3(PKD1):c.3514C>T (p.Gln1172Ter)
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.3521_3524del (p.Gln1174fs)
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter) rs1057516206
NM_001009944.3(PKD1):c.3561C>G (p.Tyr1187Ter) rs2151800871
NM_001009944.3(PKD1):c.3572_3573insA (p.Glu1192fs) rs2092507274
NM_001009944.3(PKD1):c.3586_3587del (p.Thr1196fs) rs2544829575
NM_001009944.3(PKD1):c.359+2T>G rs2092683440
NM_001009944.3(PKD1):c.3597_3601dup (p.Ala1201fs) rs2151800732
NM_001009944.3(PKD1):c.3600_3608delinsC (p.Ala1201fs)
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs) rs778028967
NM_001009944.3(PKD1):c.3601del (p.Ala1201fs) rs2092506499
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter) rs2092506242
NM_001009944.3(PKD1):c.3611del (p.Ala1204fs)
NM_001009944.3(PKD1):c.3613del (p.Asp1205fs) rs2544829295
NM_001009944.3(PKD1):c.3640G>T (p.Gly1214Ter)
NM_001009944.3(PKD1):c.3652dup (p.Asp1218fs)
NM_001009944.3(PKD1):c.3665_3684delinsAGTACA (p.Ala1222fs)
NM_001009944.3(PKD1):c.3666del (p.Val1223fs)
NM_001009944.3(PKD1):c.3684del (p.Val1229fs) rs2092503653
NM_001009944.3(PKD1):c.3706C>T (p.Gln1236Ter) rs2544828429
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.371_386dup (p.Cys129delinsTrpGluProValTer)
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.3738_3763dup (p.Gly1255fs)
NM_001009944.3(PKD1):c.3745del (p.Asp1249fs) rs2092501574
NM_001009944.3(PKD1):c.3746del (p.Asp1249fs) rs2092501540
NM_001009944.3(PKD1):c.3753del (p.Val1252fs) rs2544828080
NM_001009944.3(PKD1):c.3761C>A (p.Ser1254Ter)
NM_001009944.3(PKD1):c.3764del (p.Gly1255fs) rs2544827974
NM_001009944.3(PKD1):c.3792C>A (p.Tyr1264Ter) rs145263744
NM_001009944.3(PKD1):c.3802C>T (p.Gln1268Ter) rs2092500037
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs) rs2544827572
NM_001009944.3(PKD1):c.3814del (p.Thr1271_Val1272insTer)
NM_001009944.3(PKD1):c.381dup (p.Glu128Ter) rs2544883301
NM_001009944.3(PKD1):c.382dup (p.Glu128fs)
NM_001009944.3(PKD1):c.384del (p.Glu128fs) rs1567219155
NM_001009944.3(PKD1):c.3850del (p.Ala1284fs) rs1567202350
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter) rs780119305
NM_001009944.3(PKD1):c.3930_3931insCA (p.Ala1311fs) rs2544826608
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs) rs2151799399
NM_001009944.3(PKD1):c.3932del (p.Ala1311fs) rs1567201999
NM_001009944.3(PKD1):c.393_394del (p.Cys131fs)
NM_001009944.3(PKD1):c.3948del (p.Ala1315_Tyr1316insTer)
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.3957_3994dup (p.Asp1332fs)
NM_001009944.3(PKD1):c.3972C>A (p.Tyr1324Ter)
NM_001009944.3(PKD1):c.3G>A (p.Met1Ile) rs1567233098
NM_001009944.3(PKD1):c.4012dup (p.Thr1338fs)
NM_001009944.3(PKD1):c.4023dup (p.Cys1342fs) rs2544825647
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.4064_4065dup (p.Pro1356fs)
NM_001009944.3(PKD1):c.4064dup (p.Leu1357fs)
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4105dup (p.His1369fs) rs2544824948
NM_001009944.3(PKD1):c.4109_4120delinsG (p.Tyr1370fs) rs2544824840
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4135G>T (p.Glu1379Ter)
NM_001009944.3(PKD1):c.4156C>T (p.Gln1386Ter)
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.4168C>T (p.Gln1390Ter) rs2092487764
NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter) rs2544883158
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4186del (p.Asp1396fs)
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.4220dup (p.Phe1408fs)
NM_001009944.3(PKD1):c.4222_4232dup (p.Tyr1412fs) rs2092485909
NM_001009944.3(PKD1):c.4230C>A (p.Tyr1410Ter) rs2544823901
NM_001009944.3(PKD1):c.4242G>A (p.Trp1414Ter) rs2092485664
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs) rs34495017
NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter) rs1555456139
NM_001009944.3(PKD1):c.4276_4277delinsA (p.Ala1426fs) rs2092484442
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs) rs2544823369
NM_001009944.3(PKD1):c.4282_4291del (p.Arg1427_Gly1428insTer) rs2544823259
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4308_4339del (p.Asp1437fs) rs2544822734
NM_001009944.3(PKD1):c.4369_4370del (p.Ala1458fs) rs2092481936
NM_001009944.3(PKD1):c.4370C>G (p.Ser1457Ter)
NM_001009944.3(PKD1):c.4390G>T (p.Glu1464Ter)
NM_001009944.3(PKD1):c.4394C>T (p.Pro1465Leu) rs777140825
NM_001009944.3(PKD1):c.439del (p.Val147fs)
NM_001009944.3(PKD1):c.439dup (p.Val147fs) rs2092679105
NM_001009944.3(PKD1):c.43_62del (p.Leu15fs)
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.4455C>G (p.Tyr1485Ter)
NM_001009944.3(PKD1):c.445C>T (p.Gln149Ter) rs2544883033
NM_001009944.3(PKD1):c.445del (p.Gln149fs) rs796052133
NM_001009944.3(PKD1):c.4460_4469del (p.Phe1487fs)
NM_001009944.3(PKD1):c.4461del (p.Ser1488fs) rs1555455998
NM_001009944.3(PKD1):c.4485dup (p.Ala1496fs) rs2092478837
NM_001009944.3(PKD1):c.4494C>G (p.Tyr1498Ter)
NM_001009944.3(PKD1):c.4499G>A (p.Trp1500Ter)
NM_001009944.3(PKD1):c.4510del (p.Asp1504fs) rs2544821112
NM_001009944.3(PKD1):c.4520G>A (p.Trp1507Ter)
NM_001009944.3(PKD1):c.4521G>A (p.Trp1507Ter) rs2544821034
NM_001009944.3(PKD1):c.4534G>T (p.Glu1512Ter)
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.4616G>A (p.Trp1539Ter) rs1596558405
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter) rs2151796950
NM_001009944.3(PKD1):c.4625_4626del (p.Val1542fs)
NM_001009944.3(PKD1):c.464G>A (p.Cys155Tyr)
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs) rs2092474542
NM_001009944.3(PKD1):c.4654del (p.Val1552fs) rs2047525622
NM_001009944.3(PKD1):c.4709del (p.Thr1570fs) rs1555455797
NM_001009944.3(PKD1):c.4712C>A (p.Ser1571Ter)
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs) rs2151796475
NM_001009944.3(PKD1):c.4745G>A (p.Trp1582Ter) rs2544818887
NM_001009944.3(PKD1):c.4749_4751delinsAGCGCTATTC (p.Leu1584fs)
NM_001009944.3(PKD1):c.4753del (p.Cys1585fs)
NM_001009944.3(PKD1):c.4755_4756del (p.Cys1585_Asp1586delinsTer)
NM_001009944.3(PKD1):c.4782del (p.Pro1595fs) rs2092471431
NM_001009944.3(PKD1):c.4793_4794del (p.Ser1598fs)
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs) rs2544818419
NM_001009944.3(PKD1):c.4796dup (p.Tyr1599Ter) rs1596557742
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.4797C>G (p.Tyr1599Ter)
NM_001009944.3(PKD1):c.4818del (p.Phe1607fs)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4825dup (p.Ile1609fs)
NM_001009944.3(PKD1):c.4832_4836dup (p.Ala1613fs) rs1596557533
NM_001009944.3(PKD1):c.4835_4839delinsGATGATACTGAA (p.Thr1612_Ala1613delinsArgTer)
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter) rs566014072
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.4868_4869dup (p.Ile1624fs)
NM_001009944.3(PKD1):c.4880_4883del (p.Tyr1627fs)
NM_001009944.3(PKD1):c.4881T>A (p.Tyr1627Ter)
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter) rs2544817521
NM_001009944.3(PKD1):c.4895_4896del (p.Ile1632fs) rs2544817442
NM_001009944.3(PKD1):c.4896dup (p.Glu1633fs)
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4910_4916dup (p.Tyr1643fs)
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs) rs2544817124
NM_001009944.3(PKD1):c.491del (p.Gln164fs) rs2151825169
NM_001009944.3(PKD1):c.4929C>G (p.Tyr1643Ter) rs752948922
NM_001009944.3(PKD1):c.4935del (p.Thr1646fs)
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.4957dup (p.Gln1653fs)
NM_001009944.3(PKD1):c.4995del (p.Trp1666fs) rs2151795458
NM_001009944.3(PKD1):c.499del (p.Gly168fs) rs2151825150
NM_001009944.3(PKD1):c.5006G>A (p.Trp1669Ter) rs769439901
NM_001009944.3(PKD1):c.5014delinsGG (p.Arg1672fs)
NM_001009944.3(PKD1):c.5018del (p.Gly1673fs) rs1596556800
NM_001009944.3(PKD1):c.5021del (p.Pro1674fs) rs1555455453
NM_001009944.3(PKD1):c.5034dup (p.Ser1679fs) rs2544815998
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.512T>A (p.Leu171Ter) rs2544882746
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.5142del (p.Phe1714fs) rs2092458566
NM_001009944.3(PKD1):c.5146del (p.Glu1716fs)
NM_001009944.3(PKD1):c.5155G>C (p.Gly1719Arg) rs2544814581
NM_001009944.3(PKD1):c.5159G>A (p.Trp1720Ter) rs2151794620
NM_001009944.3(PKD1):c.515_516dup (p.Asp173fs)
NM_001009944.3(PKD1):c.5160G>A (p.Trp1720Ter)
NM_001009944.3(PKD1):c.5161del (p.Trp1720_Leu1721insTer) rs2544814541
NM_001009944.3(PKD1):c.5167dup (p.Val1723fs) rs2544814470
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter) rs2092456617
NM_001009944.3(PKD1):c.5229_5235del (p.Gly1744fs)
NM_001009944.3(PKD1):c.5255G>A (p.Trp1752Ter)
NM_001009944.3(PKD1):c.5266G>T (p.Glu1756Ter)
NM_001009944.3(PKD1):c.5272del (p.Gly1757_Leu1758insTer)
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) rs2544812863
NM_001009944.3(PKD1):c.5366C>G (p.Ser1789Ter) rs1377414968
NM_001009944.3(PKD1):c.5372del (p.Asn1791fs)
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter) rs2092452489
NM_001009944.3(PKD1):c.5413_5453del (p.Leu1805fs)
NM_001009944.3(PKD1):c.5413del (p.Leu1805fs) rs2092452089
NM_001009944.3(PKD1):c.541_542dup (p.Ala182fs)
NM_001009944.3(PKD1):c.5437G>T (p.Gly1813Ter)
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter) rs2544812084
NM_001009944.3(PKD1):c.5481dup (p.Gln1828fs) rs1596555170
NM_001009944.3(PKD1):c.5482C>T (p.Gln1828Ter)
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter) rs2544811872
NM_001009944.3(PKD1):c.5549del (p.Pro1850fs)
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.5553_5557del (p.Val1852fs) rs2544811526
NM_001009944.3(PKD1):c.5607dup (p.Asn1870fs)
NM_001009944.3(PKD1):c.5613dup (p.Val1872fs)
NM_001009944.3(PKD1):c.5617_5620del (p.Ser1873fs)
NM_001009944.3(PKD1):c.5622G>A (p.Trp1874Ter) rs2151792322
NM_001009944.3(PKD1):c.5637C>A (p.Tyr1879Ter) rs2092447380
NM_001009944.3(PKD1):c.5637C>G (p.Tyr1879Ter) rs2092447380
NM_001009944.3(PKD1):c.5644_5645del (p.Thr1882fs)
NM_001009944.3(PKD1):c.5669_5682dup (p.Ser1895fs)
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) rs1304952446
NM_001009944.3(PKD1):c.5678G>A (p.Trp1893Ter) rs2092446562
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter) rs2151792059
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter) rs942694907
NM_001009944.3(PKD1):c.5707delinsGA (p.Gln1903fs)
NM_001009944.3(PKD1):c.5710_5713dup (p.Val1905fs)
NM_001009944.3(PKD1):c.5713del (p.Val1905fs)
NM_001009944.3(PKD1):c.5722C>T (p.Gln1908Ter) rs2151791889
NM_001009944.3(PKD1):c.5744C>A (p.Ser1915Ter) rs760842136
NM_001009944.3(PKD1):c.5756del (p.Phe1919fs) rs2544809853
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.576_586del (p.Ala193fs) rs2544880866
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs) rs2092444151
NM_001009944.3(PKD1):c.5778_5784del (p.Asn1927fs)
NM_001009944.3(PKD1):c.5778del (p.Asn1927fs)
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs) rs2092443264
NM_001009944.3(PKD1):c.5809del (p.Ser1937fs) rs1555454915
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs) rs1567195285
NM_001009944.3(PKD1):c.5824dup (p.Arg1942fs) rs1567195285
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter) rs200001471
NM_001009944.3(PKD1):c.5856del (p.Asn1954fs) rs2151791178
NM_001009944.3(PKD1):c.5861dup (p.Asn1954fs)
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.5882_5927del (p.Ala1961fs)
NM_001009944.3(PKD1):c.5884C>T (p.Gln1962Ter) rs1337022607
NM_001009944.3(PKD1):c.5886_5893del (p.Gln1962fs) rs2092440281
NM_001009944.3(PKD1):c.5887del (p.Val1963fs) rs2092440563
NM_001009944.3(PKD1):c.5890del (p.Arg1964fs) rs2092440406
NM_001009944.3(PKD1):c.5895dup (p.Val1966fs)
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del) rs1555454847
NM_001009944.3(PKD1):c.5912dup (p.Ser1972fs) rs2151790839
NM_001009944.3(PKD1):c.5921del (p.Leu1974fs) rs1596553527
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5931del (p.Asn1978fs)
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.5989C>T (p.Gln1997Ter) rs2544806938
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.6012C>A (p.Tyr2004Ter)
NM_001009944.3(PKD1):c.601dup (p.His201fs) rs2151824362
NM_001009944.3(PKD1):c.6021C>A (p.Tyr2007Ter) rs147391291
NM_001009944.3(PKD1):c.6021C>G (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.6050C>A (p.Ser2017Ter)
NM_001009944.3(PKD1):c.6065C>A (p.Ser2022Ter)
NM_001009944.3(PKD1):c.6071del (p.Arg2024fs)
NM_001009944.3(PKD1):c.6084C>A (p.Tyr2028Ter) rs757173009
NM_001009944.3(PKD1):c.6086del (p.Thr2029fs)
NM_001009944.3(PKD1):c.6090del (p.Val2031fs)
NM_001009944.3(PKD1):c.6091_6136del (p.Val2031fs)
NM_001009944.3(PKD1):c.6102del (p.Leu2035fs)
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs) rs2544805834
NM_001009944.3(PKD1):c.6115dup (p.Gln2039fs)
NM_001009944.3(PKD1):c.6124_6125del (p.Ala2042fs)
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) rs2544880759
NM_001009944.3(PKD1):c.6184C>T (p.Gln2062Ter) rs750843149
NM_001009944.3(PKD1):c.6193del (p.Ala2065fs) rs1555454620
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.6232C>T (p.Gln2078Ter)
NM_001009944.3(PKD1):c.6237dup (p.Glu2080Ter)
NM_001009944.3(PKD1):c.6251del (p.Ser2084fs)
NM_001009944.3(PKD1):c.6256_6262dup (p.Arg2088fs)
NM_001009944.3(PKD1):c.6261_6262del (p.Arg2088fs)
NM_001009944.3(PKD1):c.6276C>A (p.Tyr2092Ter)
NM_001009944.3(PKD1):c.6281G>A (p.Trp2094Ter) rs2544804084
NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter) rs2151788870
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs) rs2544804049
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.6312_6318dup (p.Glu2107delinsHisArgTer) rs2544803846
NM_001009944.3(PKD1):c.6314_6315del (p.Thr2105fs)
NM_001009944.3(PKD1):c.6323_6330delinsACTCCTACCT (p.Pro2108fs) rs2092427579
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
NM_001009944.3(PKD1):c.6341_6344del (p.Ser2113_Tyr2114insTer)
NM_001009944.3(PKD1):c.6346_6352del (p.Arg2116fs) rs2544803642
NM_001009944.3(PKD1):c.6360C>A (p.Tyr2120Ter) rs1404404094
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.6398dup (p.Val2134fs) rs1555454467
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.6457dup (p.Val2153fs)
NM_001009944.3(PKD1):c.6469del (p.Leu2157fs)
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.6491C>G (p.Ser2164Ter) rs1257689527
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter) rs1485307916
NM_001009944.3(PKD1):c.6504C>A (p.Tyr2168Ter) rs766241260
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs) rs1567192623
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter) rs1054011070
NM_001009944.3(PKD1):c.6537del (p.Thr2180fs)
NM_001009944.3(PKD1):c.6540del (p.Tyr2181fs)
NM_001009944.3(PKD1):c.6549_6550del (p.Glu2184fs)
NM_001009944.3(PKD1):c.6549del (p.Glu2184fs) rs2544802378
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter) rs755972713
NM_001009944.3(PKD1):c.655C>T (p.Gln219Ter) rs2092673393
NM_001009944.3(PKD1):c.6560G>A (p.Trp2187Ter) rs1161210869
NM_001009944.3(PKD1):c.6561G>A (p.Trp2187Ter)
NM_001009944.3(PKD1):c.6562G>T (p.Glu2188Ter)
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.6576_6582del (p.Cys2195fs)
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6584_6597del (p.Cys2195fs)
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter) rs1567192286
NM_001009944.3(PKD1):c.6587_6593dup (p.Gly2199fs) rs1567192229
NM_001009944.3(PKD1):c.6599_6614dup (p.Leu2206fs)
NM_001009944.3(PKD1):c.659del (p.Gly220fs) rs2151824233
NM_001009944.3(PKD1):c.6600_6603del (p.Pro2201fs)
NM_001009944.3(PKD1):c.6611_6612del (p.Val2204fs)
NM_001009944.3(PKD1):c.6629_6644dup (p.Leu2216fs)
NM_001009944.3(PKD1):c.6656del (p.Pro2219fs)
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6660del (p.Leu2221fs) rs2544801350
NM_001009944.3(PKD1):c.6684C>G (p.Tyr2228Ter) rs149862983
NM_001009944.3(PKD1):c.6693_6694del (p.Phe2232fs)
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs) rs2544801096
NM_001009944.3(PKD1):c.670_691del (p.Leu224fs) rs2544880323
NM_001009944.3(PKD1):c.6715_6716del (p.Thr2239fs) rs2151786492
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter) rs1567191609
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6727_6730del (p.Gln2243fs)
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.6734_6737del (p.Ile2245fs)
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.673_674del (p.Ser225fs) rs2544880396
NM_001009944.3(PKD1):c.6741del (p.Asn2248fs)
NM_001009944.3(PKD1):c.6747_6750delinsCA (p.Thr2250fs) rs2544800654
NM_001009944.3(PKD1):c.6749_6750del (p.Thr2250fs) rs2544800643
NM_001009944.3(PKD1):c.6759_6760delinsT (p.Glu2254fs) rs2544800523
NM_001009944.3(PKD1):c.6759del (p.Glu2254fs) rs2544800556
NM_001009944.3(PKD1):c.6760G>T (p.Glu2254Ter)
NM_001009944.3(PKD1):c.6769del (p.Val2257fs) rs2544800435
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del) rs2544800298
NM_001009944.3(PKD1):c.6786del (p.Gly2263fs)
NM_001009944.3(PKD1):c.6794dup (p.Tyr2265Ter)
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.679C>T (p.Gln227Ter)
NM_001009944.3(PKD1):c.6802_6803del (p.Trp2268fs)
NM_001009944.3(PKD1):c.6803G>A (p.Trp2268Ter)
NM_001009944.3(PKD1):c.6804G>A (p.Trp2268Ter)
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6808_6811del (p.Asp2270fs)
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs) rs1567191145
NM_001009944.3(PKD1):c.6813dup (p.Arg2272fs) rs2151785975
NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter) rs546354639
NM_001009944.3(PKD1):c.6856dup (p.Leu2286fs) rs2544799645
NM_001009944.3(PKD1):c.6859G>T (p.Glu2287Ter)
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter) rs755591790
NM_001009944.3(PKD1):c.6883dup (p.Ser2295fs) rs2151785622
NM_001009944.3(PKD1):c.6894G>A (p.Trp2298Ter)
NM_001009944.3(PKD1):c.6900T>A (p.Cys2300Ter)
NM_001009944.3(PKD1):c.690C>A (p.Cys230Ter)
NM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter) rs1064793762
NM_001009944.3(PKD1):c.6913_6914del (p.Gln2305fs) rs1555454075
NM_001009944.3(PKD1):c.6915+1G>A rs2151785467
NM_001009944.3(PKD1):c.6915+2T>C
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.6919dup (p.Glu2307fs)
NM_001009944.3(PKD1):c.6953del (p.Arg2318fs)
NM_001009944.3(PKD1):c.695G>C (p.Cys232Ser) rs2544880304
NM_001009944.3(PKD1):c.6961_6985del (p.Ser2321fs)
NM_001009944.3(PKD1):c.6968_6981dup (p.Glu2328fs)
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.7004dup (p.Tyr2336fs)
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter) rs2092401442
NM_001009944.3(PKD1):c.7045G>T (p.Glu2349Ter) rs2544795284
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+224C>G rs2544792639
NM_001009944.3(PKD1):c.7065+2T>G rs2151783529
NM_001009944.3(PKD1):c.7066-1G>C rs2544785393
NM_001009944.3(PKD1):c.7066-2A>G rs2544785397
NM_001009944.3(PKD1):c.706C>T (p.Gln236Ter) rs2544880232
NM_001009944.3(PKD1):c.706del (p.Gln236fs) rs2544880243
NM_001009944.3(PKD1):c.7078_7081del (p.Ser2360fs) rs2544785272
NM_001009944.3(PKD1):c.707_711del (p.Gln236fs)
NM_001009944.3(PKD1):c.707del (p.Gln236fs) rs2092672656
NM_001009944.3(PKD1):c.7105dup (p.Glu2369fs)
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_7114del (p.Ser2372fs) rs1567187389
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs) rs1567187389
NM_001009944.3(PKD1):c.7115C>G (p.Ser2372Cys) rs2544784984
NM_001009944.3(PKD1):c.711del (p.Ser238fs) rs2092672595
NM_001009944.3(PKD1):c.7120A>T (p.Lys2374Ter) rs2151776957
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7136A>G (p.Tyr2379Cys)
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7138G>T (p.Glu2380Ter) rs778386729
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs) rs2092356759
NM_001009944.3(PKD1):c.7164C>G (p.Tyr2388Ter) rs1555453372
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7184dup (p.Asn2395fs)
NM_001009944.3(PKD1):c.71_81del (p.Gly24fs)
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7209+1G>A
NM_001009944.3(PKD1):c.7209+4_7209+7del
NM_001009944.3(PKD1):c.7223del (p.Arg2408fs)
NM_001009944.3(PKD1):c.7236del (p.Asn2412fs)
NM_001009944.3(PKD1):c.7237_7238del (p.Lys2413fs) rs2544782282
NM_001009944.3(PKD1):c.7241del (p.Thr2414fs)
NM_001009944.3(PKD1):c.7249dup (p.Leu2417fs) rs2092345946
NM_001009944.3(PKD1):c.7252del (p.Asp2418fs) rs2544782151
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln) rs2092344562
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7303dup (p.Arg2435fs) rs2544781629
NM_001009944.3(PKD1):c.7305_7309del (p.Gly2436fs)
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.7340del (p.Thr2447fs)
NM_001009944.3(PKD1):c.7345dup (p.Thr2449fs) rs2151774462
NM_001009944.3(PKD1):c.7369G>T (p.Glu2457Ter) rs2092341848
NM_001009944.3(PKD1):c.7384_7385dup (p.Ile2463fs)
NM_001009944.3(PKD1):c.73_74delinsT (p.Gly25fs)
NM_001009944.3(PKD1):c.7401dup (p.Asn2468fs)
NM_001009944.3(PKD1):c.7415_7416insC (p.Ser2475fs)
NM_001009944.3(PKD1):c.7421_7430del (p.Gly2474fs)
NM_001009944.3(PKD1):c.7421del (p.Gly2474fs) rs1237714286
NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)
NM_001009944.3(PKD1):c.7422del (p.Ser2475fs) rs2544780499
NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter) rs1453883641
NM_001009944.3(PKD1):c.7429del (p.Arg2477fs)
NM_001009944.3(PKD1):c.744C>A (p.Cys248Ter) rs762278346
NM_001009944.3(PKD1):c.7469dup (p.Val2491fs)
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg) rs2092338268
NM_001009944.3(PKD1):c.7485C>A (p.Cys2495Ter)
NM_001009944.3(PKD1):c.7487del (p.Thr2496fs)
NM_001009944.3(PKD1):c.7489+1G>A rs2544779978
NM_001009944.3(PKD1):c.7489+5G>A rs2092337963
NM_001009944.3(PKD1):c.7490-1G>A
NM_001009944.3(PKD1):c.7490-1G>C
NM_001009944.3(PKD1):c.7490-2A>G
NM_001009944.3(PKD1):c.7490-2A>T rs1567185163
NM_001009944.3(PKD1):c.7493G>A (p.Trp2498Ter) rs1567185138
NM_001009944.3(PKD1):c.7495del (p.His2499fs) rs2092333316
NM_001009944.3(PKD1):c.74del (p.Gly25fs)
NM_001009944.3(PKD1):c.74dup (p.Gly27fs)
NM_001009944.3(PKD1):c.7508_7518del (p.Asp2503fs)
NM_001009944.3(PKD1):c.750_751delinsA (p.Pro252fs)
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter) rs2151772321
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7566C>A (p.Cys2522Ter)
NM_001009944.3(PKD1):c.7575_7576del (p.Phe2525fs)
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs) rs2151772170
NM_001009944.3(PKD1):c.7591dup (p.Ser2531fs)
NM_001009944.3(PKD1):c.7597_7598del (p.Ser2533fs) rs2544777946
NM_001009944.3(PKD1):c.7622del (p.Pro2541fs) rs1555452849
NM_001009944.3(PKD1):c.7622dup (p.Arg2544fs)
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter) rs28369051
NM_001009944.3(PKD1):c.7655_7658dup (p.Val2554fs)
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7672C>T (p.Gln2558Ter) rs2544777318
NM_001009944.3(PKD1):c.7703+1G>A
NM_001009944.3(PKD1):c.7703+2T>G
NM_001009944.3(PKD1):c.7704-1G>C rs2544776487
NM_001009944.3(PKD1):c.7704-2A>G rs2544776491
NM_001009944.3(PKD1):c.7704-2_7712del rs1555452738
NM_001009944.3(PKD1):c.7704delG
NM_001009944.3(PKD1):c.7709T>A (p.Leu2570Ter)
NM_001009944.3(PKD1):c.771del (p.Thr258fs)
NM_001009944.3(PKD1):c.771dup (p.Thr258fs) rs2544879772
NM_001009944.3(PKD1):c.7749del (p.Leu2584fs) rs2092323231
NM_001009944.3(PKD1):c.7751_7754del (p.Leu2584fs) rs1567183784
NM_001009944.3(PKD1):c.7754_7755del (p.Thr2585fs)
NM_001009944.3(PKD1):c.7761G>A (p.Trp2587Ter)
NM_001009944.3(PKD1):c.7784_7785dup (p.Leu2596fs) rs1567183633
NM_001009944.3(PKD1):c.7795del (p.Leu2599fs)
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.7817del (p.Gln2606fs)
NM_001009944.3(PKD1):c.7818dup (p.His2607fs) rs1555452653
NM_001009944.3(PKD1):c.7821_7825del (p.Val2608fs)
NM_001009944.3(PKD1):c.7827del (p.Ile2609fs)
NM_001009944.3(PKD1):c.782del (p.Gly261fs) rs2544879677
NM_001009944.3(PKD1):c.7832_7837delinsGC (p.Tyr2611fs)
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter) rs138871063
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer) rs2544775084
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del) rs2544775052
NM_001009944.3(PKD1):c.7844_7851del (p.Leu2615fs)
NM_001009944.3(PKD1):c.7859dup (p.Asn2620fs)
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter) rs762003393
NM_001009944.3(PKD1):c.7863+1G>A
NM_001009944.3(PKD1):c.7863+1del rs2092319664
NM_001009944.3(PKD1):c.7864-1G>T rs2092305301
NM_001009944.3(PKD1):c.7864-2A>T
NM_001009944.3(PKD1):c.7884_7903dup (p.Glu2635fs) rs2544769929
NM_001009944.3(PKD1):c.7887_7888insTGTGGCG (p.Ala2630fs) rs2544770043
NM_001009944.3(PKD1):c.78_96dup (p.Cys33fs) rs2544960532
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.7948_7949del (p.Leu2650fs) rs2544769485
NM_001009944.3(PKD1):c.7951del (p.Val2651fs) rs2151766847
NM_001009944.3(PKD1):c.796C>T (p.Gln266Ter) rs2151823901
NM_001009944.3(PKD1):c.7973_7974del (p.Val2658fs) rs2092302256
NM_001009944.3(PKD1):c.7973dup (p.Asp2659fs)
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.8017-1_8161+1del
NM_001009944.3(PKD1):c.8017-1dup rs1555452047
NM_001009944.3(PKD1):c.8017-2A>G rs1567180640
NM_001009944.3(PKD1):c.8017-3C>G rs780785813
NM_001009944.3(PKD1):c.8018_8019del
NM_001009944.3(PKD1):c.8025dup (p.Arg2676fs)
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.8045dup (p.Cys2683fs) rs2544758303
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter) rs377029031
NM_001009944.3(PKD1):c.8054_8055delinsC (p.Lys2685fs)
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter) rs779516086
NM_001009944.3(PKD1):c.8068_8102dup (p.Glu2701_Thr2702insSerTrpArgProTer)
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter) rs1222094213
NM_001009944.3(PKD1):c.8116_8125del (p.Thr2706fs) rs2092260381
NM_001009944.3(PKD1):c.8137G>T (p.Gly2713Ter)
NM_001009944.3(PKD1):c.8150delinsATCCG (p.Leu2717fs)
NM_001009944.3(PKD1):c.8152_8156del (p.Asn2718fs)
NM_001009944.3(PKD1):c.8158dup (p.Thr2720fs)
NM_001009944.3(PKD1):c.8161+1G>T rs2544757259
NM_001009944.3(PKD1):c.8161+2T>G
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8162-2A>G rs2092209753
NM_001009944.3(PKD1):c.8186C>A (p.Ser2729Ter)
NM_001009944.3(PKD1):c.8192_8193del (p.Val2731fs)
NM_001009944.3(PKD1):c.81del (p.Arg28fs) rs2544960575
NM_001009944.3(PKD1):c.8201del (p.Pro2734fs)
NM_001009944.3(PKD1):c.8203C>T (p.Gln2735Ter)
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
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.823del (p.Ala275fs)
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter) rs2092205600
NM_001009944.3(PKD1):c.825del (p.Thr276fs)
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.8290_8293dup (p.Arg2765fs)
NM_001009944.3(PKD1):c.8299C>G (p.Arg2767Gly)
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8302_8305del (p.Val2768fs)
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs) rs2092202856
NM_001009944.3(PKD1):c.8320_8321del (p.Leu2774fs) rs2544745650
NM_001009944.3(PKD1):c.8320del (p.Pro2773_Leu2774insTer) rs2092202749
NM_001009944.3(PKD1):c.8324_8325insA (p.Leu2776fs) rs2544745612
NM_001009944.3(PKD1):c.8326_8344dup (p.Val2782fs)
NM_001009944.3(PKD1):c.8327_8330del (p.Leu2776fs)
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs) rs2544745465
NM_001009944.3(PKD1):c.8332_8344dup (p.Val2782fs) rs2544745408
NM_001009944.3(PKD1):c.8333del (p.Gly2778fs) rs1567178000
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs) rs1567178000
NM_001009944.3(PKD1):c.8337_8366delinsTC (p.Glu2779fs)
NM_001009944.3(PKD1):c.8343del (p.Ile2781fs)
NM_001009944.3(PKD1):c.8350C>T (p.Gln2784Ter) rs2544745346
NM_001009944.3(PKD1):c.8363C>A (p.Ser2788Ter)
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs) rs1057518604
NM_001009944.3(PKD1):c.8370_8376del (p.Arg2791fs)
NM_001009944.3(PKD1):c.8374del (p.Ser2792fs) rs2544745075
NM_001009944.3(PKD1):c.8382_8386del (p.Cys2795fs)
NM_001009944.3(PKD1):c.8388T>G (p.Tyr2796Ter) rs2092200060
NM_001009944.3(PKD1):c.8408_8409delinsT (p.Gly2803fs)
NM_001009944.3(PKD1):c.8410del (p.Cys2804fs)
NM_001009944.3(PKD1):c.8427_8446dup (p.Leu2816fs) rs2544744482
NM_001009944.3(PKD1):c.8427del (p.Glu2810fs) rs1567177760
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter) rs777608163
NM_001009944.3(PKD1):c.8429_8433del (p.Glu2810fs)
NM_001009944.3(PKD1):c.8443del (p.Ala2815fs)
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8457_8458del (p.Leu2819_Ser2820insTer)
NM_001009944.3(PKD1):c.8458_8459del (p.Leu2819_Ser2820insTer) rs2092196755
NM_001009944.3(PKD1):c.8461dup (p.Asp2821fs)
NM_001009944.3(PKD1):c.846_852del (p.Ser286_Gly287insTer)
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.8480_8481insCT (p.Leu2828fs) rs2544744207
NM_001009944.3(PKD1):c.8491dup (p.Ser2831fs)
NM_001009944.3(PKD1):c.8493dup (p.Asn2832fs) rs2544744105
NM_001009944.3(PKD1):c.8502del (p.Phe2836fs)
NM_001009944.3(PKD1):c.8514dup (p.Ile2839fs) rs2544743893
NM_001009944.3(PKD1):c.8524dup (p.Tyr2842fs)
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.8554del (p.Ala2852fs) rs2544743555
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.8566C>T (p.Gln2856Ter) rs2092189640
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.856_862dup (p.Gln288fs)
NM_001009944.3(PKD1):c.8574_8580del (p.Ala2859fs)
NM_001009944.3(PKD1):c.8590G>T (p.Glu2864Ter) rs374629549
NM_001009944.3(PKD1):c.8603C>G (p.Ser2868Ter) rs901163374
NM_001009944.3(PKD1):c.8614del (p.Ile2872fs)
NM_001009944.3(PKD1):c.862C>T (p.Gln288Ter) rs2544879145
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs) rs2151754452
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter) rs2544742591
NM_001009944.3(PKD1):c.8646G>A (p.Trp2882Ter)
NM_001009944.3(PKD1):c.8657_8661del (p.Gly2886fs)
NM_001009944.3(PKD1):c.8691del (p.Val2898fs) rs2544742014
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.8703_8704del (p.Gln2902fs)
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs) rs2151754069
NM_001009944.3(PKD1):c.8747del (p.Pro2916fs)
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+2T>C
NM_001009944.3(PKD1):c.8791+40_10050+3del
NM_001009944.3(PKD1):c.8792-2A>G
NM_001009944.3(PKD1):c.8793_10499+1del
NM_001009944.3(PKD1):c.8803_8806del (p.Ser2935fs)
NM_001009944.3(PKD1):c.8804_8805del (p.Leu2934_Ser2935insTer) rs2544737997
NM_001009944.3(PKD1):c.8823C>G (p.Tyr2941Ter) rs780322906
NM_001009944.3(PKD1):c.8836del (p.Leu2946fs) rs2092156841
NM_001009944.3(PKD1):c.8839del (p.His2947fs) rs2544737764
NM_001009944.3(PKD1):c.8842_8843del (p.Ser2948fs)
NM_001009944.3(PKD1):c.8860G>T (p.Glu2954Ter)
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.8898_8911dup (p.Ala2971fs) rs1555450672
NM_001009944.3(PKD1):c.8900C>G (p.Ser2967Ter) rs2544737112
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter) rs200520583
NM_001009944.3(PKD1):c.890dup (p.Leu298fs)
NM_001009944.3(PKD1):c.8925dup (p.Tyr2976fs) rs2544736793
NM_001009944.3(PKD1):c.8945del (p.Pro2982fs) rs2092151870
NM_001009944.3(PKD1):c.8945dup (p.Ser2984fs)
NM_001009944.3(PKD1):c.8957del (p.Asp2986fs)
NM_001009944.3(PKD1):c.8960_8969del (p.Pro2987fs)
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.8998del (p.Arg3000fs) rs1555450475
NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs) rs1555450475
NM_001009944.3(PKD1):c.899_914del (p.Val300fs)
NM_001009944.3(PKD1):c.899dup (p.Thr301fs) rs2544878899
NM_001009944.3(PKD1):c.9003G>A (p.Trp3001Ter)
NM_001009944.3(PKD1):c.9005C>A (p.Ser3002Ter) rs1486764809
NM_001009944.3(PKD1):c.9013C>T (p.Gln3005Ter) rs1063401
NM_001009944.3(PKD1):c.9040dup (p.Leu3014fs) rs2544733556
NM_001009944.3(PKD1):c.9047del (p.Gln3016fs) rs2092138707
NM_001009944.3(PKD1):c.9048del (p.Gln3016fs)
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter) rs2544733475
NM_001009944.3(PKD1):c.9072_9397+1del
NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer) rs1555450424
NM_001009944.3(PKD1):c.9075G>A (p.Trp3025Ter)
NM_001009944.3(PKD1):c.9083_9084del (p.Glu3028fs) rs2544733268
NM_001009944.3(PKD1):c.9098del (p.Leu3033fs)
NM_001009944.3(PKD1):c.90C>A (p.Cys30Ter)
NM_001009944.3(PKD1):c.9118C>T (p.Gln3040Ter)
NM_001009944.3(PKD1):c.914G>A (p.Trp305Ter)
NM_001009944.3(PKD1):c.9178dup (p.Ser3060fs)
NM_001009944.3(PKD1):c.9185_9188dup (p.Phe3064fs) rs2544732354
NM_001009944.3(PKD1):c.9195_9196del (p.Phe3066fs) rs2544732273
NM_001009944.3(PKD1):c.9195_9199delinsCCTT (p.Phe3066fs)
NM_001009944.3(PKD1):c.9201+1G>A rs2151749304
NM_001009944.3(PKD1):c.9202-10_9218del rs1596521250
NM_001009944.3(PKD1):c.9202-1G>T
NM_001009944.3(PKD1):c.9217dup (p.Val3073fs) rs2544731000
NM_001009944.3(PKD1):c.921del (p.Phe307fs)
NM_001009944.3(PKD1):c.9225C>A (p.Tyr3075Ter)
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.924_948delinsTGGAT (p.Asp309fs) rs1555459056
NM_001009944.3(PKD1):c.9262_9263insGT (p.Tyr3088fs)
NM_001009944.3(PKD1):c.9262dup (p.Tyr3088fs)
NM_001009944.3(PKD1):c.9264del (p.Thr3087_Tyr3088insTer)
NM_001009944.3(PKD1):c.9296del (p.Asp3099fs) rs2544730531
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter) rs1596520985
NM_001009944.3(PKD1):c.9302T>A (p.Leu3101Ter) rs2544730498
NM_001009944.3(PKD1):c.9320_9324dup (p.Ile3109fs) rs2544730274
NM_001009944.3(PKD1):c.9325_9330delinsGCGCCATCCCC (p.Ile3109fs)
NM_001009944.3(PKD1):c.932_960del (p.Ser311fs)
NM_001009944.3(PKD1):c.9331_9334delinsAG (p.Phe3111fs)
NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter) rs2544730146
NM_001009944.3(PKD1):c.9347_9350dup (p.Phe3118fs) rs2151748289
NM_001009944.3(PKD1):c.9347del (p.Gly3116fs) rs2544730117
NM_001009944.3(PKD1):c.9373A>T (p.Lys3125Ter)
NM_001009944.3(PKD1):c.9378_9383dup (p.Trp3128Ter) rs2544729906
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter) rs2544729897
NM_001009944.3(PKD1):c.9386del (p.Gly3129fs) rs2544729882
NM_001009944.3(PKD1):c.9395C>G (p.Ser3132Ter)
NM_001009944.3(PKD1):c.9397+1G>C rs2544729773
NM_001009944.3(PKD1):c.9398-1G>C rs1555449642
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9412dup (p.Val3138fs) rs1567171493
NM_001009944.3(PKD1):c.9417del (p.Ile3140fs) rs2544718731
NM_001009944.3(PKD1):c.9451del (p.His3151fs)
NM_001009944.3(PKD1):c.9462_9478del (p.Asp3155fs) rs2544718286
NM_001009944.3(PKD1):c.9486dup (p.Asn3163fs) rs2092049440
NM_001009944.3(PKD1):c.9496dup (p.Asp3166fs)
NM_001009944.3(PKD1):c.9522del (p.His3174fs)
NM_001009944.3(PKD1):c.9530dup (p.Gly3177_Ser3178insTer)
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.954_976del (p.Pro319fs) rs2151823424
NM_001009944.3(PKD1):c.9555G>A (p.Trp3185Ter)
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9563_9568+2delinsCTCGG
NM_001009944.3(PKD1):c.9568+1G>C rs2092046394
NM_001009944.3(PKD1):c.9568+1G>T rs2092046394
NM_001009944.3(PKD1):c.9569-1G>C rs2151741177
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter) rs2544716328
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.9607_9608del (p.Arg3203fs)
NM_001009944.3(PKD1):c.960del (p.Ala321fs)
NM_001009944.3(PKD1):c.9616C>T (p.Gln3206Ter) rs2092038810
NM_001009944.3(PKD1):c.9647_9648del (p.Asn3216fs)
NM_001009944.3(PKD1):c.964_965dup (p.His323fs) rs1567217428
NM_001009944.3(PKD1):c.9654G>A (p.Trp3218Ter)
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.9661del (p.Val3221fs) rs2544715545
NM_001009944.3(PKD1):c.966_972del (p.His323fs)
NM_001009944.3(PKD1):c.9670G>T (p.Glu3224Ter) rs2544715496
NM_001009944.3(PKD1):c.9678_9679insA (p.Gly3227fs)
NM_001009944.3(PKD1):c.9682_9683dup (p.Leu3229fs)
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9686del (p.Leu3229fs)
NM_001009944.3(PKD1):c.968_972del (p.His323fs)
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.9729dup (p.Arg3244fs) rs2092027387
NM_001009944.3(PKD1):c.9736del (p.Arg3246fs) rs2092026801
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9756_9771dup (p.Phe3258fs)
NM_001009944.3(PKD1):c.9760C>T (p.Gln3254Ter) rs2544713742
NM_001009944.3(PKD1):c.9771_9774del (p.Phe3257fs)
NM_001009944.3(PKD1):c.9800G>A (p.Trp3267Ter) rs1460604173
NM_001009944.3(PKD1):c.9821dup (p.Thr3276fs)
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs) rs1596512729
NM_001009944.3(PKD1):c.9835C>T (p.Gln3279Ter)
NM_001009944.3(PKD1):c.9841del (p.Ala3281fs) rs2092021706
NM_001009944.3(PKD1):c.9847dup (p.Cys3283fs)
NM_001009944.3(PKD1):c.9852C>A (p.Cys3284Ter)
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9863del (p.Ile3288fs) rs2544712802
NM_001009944.3(PKD1):c.9867C>A (p.Cys3289Ter) rs1420757773
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs) rs2544712716
NM_001009944.3(PKD1):c.9885del (p.Asn3295fs) rs1596512492
NM_001009944.3(PKD1):c.9886dup (p.Ala3296fs)
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.9918del (p.Tyr3307fs)
NM_001009944.3(PKD1):c.9924-10_9924dup
NM_001009944.3(PKD1):c.9924-1G>T
NM_001009944.3(PKD1):c.9924-1_10050+1del
NM_001009944.3(PKD1):c.9925dup (p.Thr3309fs) rs2151738483
NM_001009944.3(PKD1):c.9930dup (p.His3311fs)
NM_001009944.3(PKD1):c.9964dup (p.Thr3322fs)
NM_001009944.3(PKD1):c.9965_9966del (p.Thr3322fs) rs2544711045
NM_001009944.3(PKD1):c.9983dup (p.Ser3329fs)
NM_001009944.3(PKD1):c.9992dup (p.Val3332fs)
NM_001009944.3(PKD1):c.9994del (p.Val3332fs) rs1555449235
NM_001009944.3(PKD1):c.99C>A (p.Cys33Ter) rs2092941253
NM_001009944.3(PKD1):c.99del (p.Cys33fs) rs2544960516
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_001009944.3:c.1_8551del
Single allele

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