ClinVar Miner

List of variants in gene PKD1

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Gene type:
ClinVar version:
Total variants: 818
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HGVS dbSNP
GRCh37/hg19 16p13.3(chr16:2154130-2185078)x3
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_000296.3(PKD1):c.12135+22delG rs199701927
NM_000296.3(PKD1):c.1849+28_1849+34delTGGTGGG rs56173969
NM_000296.3(PKD1):c.8019dup (p.Pro2674Alafs) rs1555452047
NM_000296.3(PKD1):c.856_862del (p.Gly287Terfs) rs1555459108
NM_000296.3(PKD1):c.9924-9_9924-7delTCC rs892390487
NM_001009944.2(PKD1):c.10220+2_10220+3delTG rs1114167366
NM_001009944.2(PKD1):c.6806C>G (p.Ser2269Ter)
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001009944.2:c.6468-?_10050+?del
NM_001009944.2:c.8949-?_9397+?del
NM_001009944.3(PKD1):c.*15G>A rs77566834
NM_001009944.3(PKD1):c.-195G>A rs867790304
NM_001009944.3(PKD1):c.-67C>T rs1016465177
NM_001009944.3(PKD1):c.10026dup (p.Leu3343fs) rs1567169118
NM_001009944.3(PKD1):c.10027C>T (p.Leu3343Phe) rs1158465434
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724
NM_001009944.3(PKD1):c.10050+10G>C rs746704728
NM_001009944.3(PKD1):c.10051-25G>A rs150399422
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=) rs149924232
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) rs1567166045
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs) rs1567165997
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860
NM_001009944.3(PKD1):c.10151C>G (p.Ser3384Ter) rs1383556063
NM_001009944.3(PKD1):c.10165G>A (p.Glu3389Lys) rs756738297
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10220+33G>A rs755957931
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513
NM_001009944.3(PKD1):c.10240G>A (p.Gly3414Ser) rs371762181
NM_001009944.3(PKD1):c.10247del (p.Gly3416fs)
NM_001009944.3(PKD1):c.10303C>T (p.Arg3435Trp) rs562831339
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp) rs374486955
NM_001009944.3(PKD1):c.10320_10337delinsATGGCC (p.Gln3441_Leu3446delinsTrpPro) rs1555448280
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) rs144593342
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter) rs780009030
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=) rs7194935
NM_001009944.3(PKD1):c.10377C>G (p.Tyr3459Ter)
NM_001009944.3(PKD1):c.1039_1045del (p.Gly347fs) rs1567217194
NM_001009944.3(PKD1):c.10406-4C>T rs151095649
NM_001009944.3(PKD1):c.10407T>A (p.Asp3469Glu)
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.1047_1049del (p.Asp349_Val350delinsGlu) rs1567217173
NM_001009944.3(PKD1):c.10487del (p.Leu3496fs) rs1555448106
NM_001009944.3(PKD1):c.1075C>G (p.Leu359Val) rs1057524759
NM_001009944.3(PKD1):c.1078_1088del (p.Glu360fs) rs1555459001
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593
NM_001009944.3(PKD1):c.1097C>A (p.Ser366Ter)
NM_001009944.3(PKD1):c.1119= (p.Leu373=) rs35842
NM_001009944.3(PKD1):c.1123C>A (p.Leu375Ile)
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter) rs1286585831
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.11713-29T>A rs1555445308
NM_001009944.3(PKD1):c.11713-2A>G rs1555445274
NM_001009944.3(PKD1):c.11713-31C>T rs1318395645
NM_001009944.3(PKD1):c.11713-3C>G rs754015180
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413
NM_001009944.3(PKD1):c.11743G>C (p.Ala3915Pro) rs1555445237
NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs) rs1555445192
NM_001009944.3(PKD1):c.11852T>A (p.Val3951Glu) rs1555445164
NM_001009944.3(PKD1):c.11868_11869insACT (p.Gly3957_Ala3958insThr) rs1567149662
NM_001009944.3(PKD1):c.11875G>C (p.Ala3959Pro) rs756245085
NM_001009944.3(PKD1):c.11880C>A (p.Asp3960Glu)
NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967fs) rs886040959
NM_001009944.3(PKD1):c.11912del (p.Pro3971fs) rs1555445123
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11921_11942dup (p.Gln3982_Leu3983insHisTer)
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=) rs116236042
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.3(PKD1):c.11986_12000del (p.Phe3996_Val4000del) rs1567148933
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006
NM_001009944.3(PKD1):c.12000C>G (p.Val4000=) rs1555445055
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12003+5G>T
NM_001009944.3(PKD1):c.12004-34C>A rs117865497
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg) rs760873748
NM_001009944.3(PKD1):c.1202-8G>A rs560799680
NM_001009944.3(PKD1):c.1202-9G>A
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.12037T>C (p.Ser4013Pro) rs1555444981
NM_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs)
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)
NM_001009944.3(PKD1):c.1206_1207del (p.His403fs) rs1567216675
NM_001009944.3(PKD1):c.12075G>A (p.Glu4025=) rs754786423
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960
NM_001009944.3(PKD1):c.12139-3C>G
NM_001009944.3(PKD1):c.12139-5C>T rs146430229
NM_001009944.3(PKD1):c.12146C>T (p.Ser4049Phe) rs757666977
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe) rs186160250
NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs)
NM_001009944.3(PKD1):c.12173T>G (p.Val4058Gly) rs80360485
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986
NM_001009944.3(PKD1):c.12217_12221del (p.Thr4073fs) rs1567146946
NM_001009944.3(PKD1):c.1221C>T (p.Pro407=) rs768893401
NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs) rs1555444715
NM_001009944.3(PKD1):c.12237C>T (p.Ser4079=) rs372534935
NM_001009944.3(PKD1):c.12261T>A (p.Cys4087Ter) rs199476097
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632
NM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs) rs1555444648
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.12344dup (p.Glu4116fs)
NM_001009944.3(PKD1):c.12348del (p.Glu4116fs)
NM_001009944.3(PKD1):c.12354C>A (p.Tyr4118Ter) rs1188292999
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12407G>A (p.Arg4136Lys) rs768391524
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502
NM_001009944.3(PKD1):c.12420G>A (p.Trp4140Ter) rs199476102
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.3(PKD1):c.12444G>C (p.Glu4148Asp) rs1567145638
NM_001009944.3(PKD1):c.12490del (p.Arg4164fs)
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs) rs1555444249
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs) rs1567144266
NM_001009944.3(PKD1):c.1259A>G (p.Tyr420Cys) rs755878230
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.12640C>T (p.Arg4214Cys) rs569380424
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del)
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro) rs1230641065
NM_001009944.3(PKD1):c.12699_12700AG[1] (p.Glu4234fs)
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12718G>T (p.Glu4240Ter) rs1567143705
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=) rs373854628
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443
NM_001009944.3(PKD1):c.1278_1280GGC[1] (p.Ala428del) rs724159824
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365
NM_001009944.3(PKD1):c.12803C>T (p.Pro4268Leu) rs767385060
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala) rs1341672915
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu) rs1567216472
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)
NM_001009944.3(PKD1):c.1304A>G (p.Gln435Arg) rs1426435123
NM_001009944.3(PKD1):c.1305_1306GT[1] (p.Cys436fs) rs1555458891
NM_001009944.3(PKD1):c.1306T>C (p.Cys436Arg) rs1555458892
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888
NM_001009944.3(PKD1):c.1325C>T (p.Ala442Val)
NM_001009944.3(PKD1):c.1326C>T (p.Ala442=) rs376607683
NM_001009944.3(PKD1):c.1347_1356delinsAC (p.Ser449fs) rs1567216323
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr) rs757107371
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly) rs1555458865
NM_001009944.3(PKD1):c.1385+26C>T rs376973904
NM_001009944.3(PKD1):c.1385+5C>T rs886038368
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
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.1420C>T (p.Gln474Ter) rs1567215646
NM_001009944.3(PKD1):c.1439del (p.Pro480fs) rs1567215590
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=) rs748123570
NM_001009944.3(PKD1):c.1523G>T (p.Cys508Phe) rs1057518001
NM_001009944.3(PKD1):c.1539C>T (p.Pro513=) rs550769703
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860
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.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1598A>G (p.Gln533Arg) rs2855342
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=) rs759092782
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser) rs1555458683
NM_001009944.3(PKD1):c.1607-27C>T rs4787158
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1630_1632CTC[1] (p.Leu545del)
NM_001009944.3(PKD1):c.1643C>T (p.Ala548Val) rs768613812
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1674G>A (p.Thr558=) rs757658330
NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg) rs1185676416
NM_001009944.3(PKD1):c.1687C>T (p.Gln563Ter) rs1064794207
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.3(PKD1):c.1722+1G>A rs1567214706
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.1723-2A>G rs1567214052
NM_001009944.3(PKD1):c.1772del (p.Thr591fs) rs1567213901
NM_001009944.3(PKD1):c.1827G>A (p.Val609=) rs905577227
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu) rs886038369
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1850-4A>G rs35929659
NM_001009944.3(PKD1):c.1886C>G (p.Ser629Cys) rs569768187
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=) rs1344519371
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp)
NM_001009944.3(PKD1):c.1903dup (p.Gln635fs) rs1567213083
NM_001009944.3(PKD1):c.1999A>G (p.Asn667Asp) rs1351098350
NM_001009944.3(PKD1):c.2012C>G (p.Ser671Ter)
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup) rs1567212718
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe) rs370141157
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2098-1G>C rs1567211807
NM_001009944.3(PKD1):c.2098-3C>T rs1295368570
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141
NM_001009944.3(PKD1):c.214C>T (p.Leu72=) rs972113626
NM_001009944.3(PKD1):c.215+1G>C rs1555462433
NM_001009944.3(PKD1):c.215+4_215+5insACAG rs1555462432
NM_001009944.3(PKD1):c.2152C>A (p.Gln718Lys) rs1555458032
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2161G>A (p.Ala721Thr) rs1085307516
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031
NM_001009944.3(PKD1):c.2214C>G (p.Pro738=) rs543166733
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) rs747483368
NM_001009944.3(PKD1):c.2216= (p.Arg739=) rs40433
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454
NM_001009944.3(PKD1):c.2266G>A (p.Ala756Thr)
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter)
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597
NM_001009944.3(PKD1):c.2298_2308del (p.Cys767fs) rs1567211181
NM_001009944.3(PKD1):c.2319A>G (p.Ala773=) rs537747463
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp)
NM_001009944.3(PKD1):c.239G>A (p.Arg80Gln) rs1190107349
NM_001009944.3(PKD1):c.2444T>C (p.Phe815Ser)
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser) rs766302578
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2540T>C (p.Leu847Pro)
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs)
NM_001009944.3(PKD1):c.2622_2626CCCTG[3] (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.2643C>T (p.Phe881=)
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=) rs142606648
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs) rs1567210080
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348
NM_001009944.3(PKD1):c.2732T>G (p.Val911Gly)
NM_001009944.3(PKD1):c.2759C>G (p.Ala920Gly) rs1555457748
NM_001009944.3(PKD1):c.275del (p.Ala92fs) rs1567219735
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168
NM_001009944.3(PKD1):c.2780_2782CGG[1] (p.Ala928del)
NM_001009944.3(PKD1):c.2804_2829del (p.Leu935fs) rs1567209616
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys) rs1085307552
NM_001009944.3(PKD1):c.2854-2A>G rs1555457488
NM_001009944.3(PKD1):c.2854-5C>T rs114846412
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp)
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.2867dup (p.Val957fs) rs1567208136
NM_001009944.3(PKD1):c.2870T>C (p.Val957Ala) rs1555457473
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.2885A>G (p.Asp962Gly) rs1567208045
NM_001009944.3(PKD1):c.2902A>G (p.Thr968Ala) rs1555457457
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.2933A>G (p.Gln978Arg) rs1555457445
NM_001009944.3(PKD1):c.2942T>C (p.Val981Ala) rs1555457440
NM_001009944.3(PKD1):c.2966_2967insCC (p.Ala990fs) rs1567207841
NM_001009944.3(PKD1):c.296G>T (p.Ser99Ile)
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=) rs143013095
NM_001009944.3(PKD1):c.3007_3024dup (p.Ser1003_Asn1008dup) rs1555457321
NM_001009944.3(PKD1):c.3019G>A (p.Val1007Met) rs376176735
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.3030C>T (p.Asn1010=) rs373237487
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp)
NM_001009944.3(PKD1):c.305_307del (p.Lys102del) rs1567219527
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068
NM_001009944.3(PKD1):c.3069G>C (p.Gln1023His)
NM_001009944.3(PKD1):c.3071delinsCCC (p.Val1024fs) rs1567206904
NM_001009944.3(PKD1):c.3087C>T (p.Ala1029=) rs374628271
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534
NM_001009944.3(PKD1):c.3128del (p.Val1043fs) rs1567206632
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu) rs724159822
NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del) rs1567206560
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=) rs369632433
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945
NM_001009944.3(PKD1):c.3200T>C (p.Phe1067Ser)
NM_001009944.3(PKD1):c.3205C>T (p.Pro1069Ser)
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=) rs2575316
NM_001009944.3(PKD1):c.3242C>T (p.Ser1081Leu) rs377441860
NM_001009944.3(PKD1):c.3247_3253del (p.Ala1083fs) rs1567205637
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677
NM_001009944.3(PKD1):c.3277C>T (p.His1093Tyr) rs146352591
NM_001009944.3(PKD1):c.3285C>A (p.Tyr1095Ter) rs558648661
NM_001009944.3(PKD1):c.3295+12G>C rs1397385522
NM_001009944.3(PKD1):c.3296-15G>A rs201704201
NM_001009944.3(PKD1):c.3296-1G>A rs1567204631
NM_001009944.3(PKD1):c.3296-1G>C rs1567204631
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys) rs770755888
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768
NM_001009944.3(PKD1):c.3384C>G (p.Ser1128=) rs530066894
NM_001009944.3(PKD1):c.3390T>G (p.Ala1130=) rs769998736
NM_001009944.3(PKD1):c.3397_3400GTGA[1] (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del) rs1060499705
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701
NM_001009944.3(PKD1):c.3482G>A (p.Trp1161Ter)
NM_001009944.3(PKD1):c.3489C>T (p.Phe1163=) rs139744826
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=) rs375384742
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3503dup (p.Val1169fs) rs1555456661
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.3525G>A (p.Pro1175=) rs375443604
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter) rs1057516206
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.360-18C>T rs771272026
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)
NM_001009944.3(PKD1):c.3601_3620del (p.Ala1201fs)
NM_001009944.3(PKD1):c.3644T>C (p.Leu1215Pro) rs1555456557
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met) rs749092859
NM_001009944.3(PKD1):c.3716_3718ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3731C>T (p.Thr1244Ile)
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241
NM_001009944.3(PKD1):c.3749G>A (p.Gly1250Asp) rs1567202673
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu) rs1567219166
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.3796C>T (p.Arg1266Trp) rs376754657
NM_001009944.3(PKD1):c.384del (p.Glu128fs) rs1567219155
NM_001009944.3(PKD1):c.3850del (p.Ala1284fs) rs1567202350
NM_001009944.3(PKD1):c.3890_3891insCAC (p.Arg1298_Val1299insThr) rs1567202189
NM_001009944.3(PKD1):c.3906C>T (p.Ala1302=) rs547817931
NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=) rs147850232
NM_001009944.3(PKD1):c.3932del (p.Ala1311fs) rs1567201999
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358
NM_001009944.3(PKD1):c.3948C>T (p.Tyr1316=) rs371589720
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
NM_001009944.3(PKD1):c.3961C>T (p.Pro1321Ser)
NM_001009944.3(PKD1):c.3975C>T (p.Leu1325=) rs758222643
NM_001009944.3(PKD1):c.3G>A (p.Met1Ile) rs1567233098
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys)
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.3(PKD1):c.404G>A (p.Trp135Ter) rs1567219111
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln) rs374129201
NM_001009944.3(PKD1):c.4053G>T (p.Arg1351=) rs371149993
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766
NM_001009944.3(PKD1):c.4072G>C (p.Ala1358Pro) rs1567201469
NM_001009944.3(PKD1):c.4110_4113del (p.His1369_Tyr1370insTer) rs1567201338
NM_001009944.3(PKD1):c.4127T>C (p.Val1376Ala)
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)
NM_001009944.3(PKD1):c.4148T>A (p.Val1383Asp) rs1567201202
NM_001009944.3(PKD1):c.4161_4162AG[2] (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val)
NM_001009944.3(PKD1):c.4191G>A (p.Glu1397=) rs1356967038
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln) rs1555456192
NM_001009944.3(PKD1):c.4217C>T (p.Pro1406Leu) rs1258742494
NM_001009944.3(PKD1):c.4220C>T (p.Pro1407Leu) rs140412120
NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter) rs1555456139
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala) rs2239671
NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=) rs78509585
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4319_4321del (p.Ser1440del) rs1567200450
NM_001009944.3(PKD1):c.4340C>A (p.Ala1447Glu)
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter)
NM_001009944.3(PKD1):c.445del (p.Gln149fs) rs796052133
NM_001009944.3(PKD1):c.4461del (p.Ser1488fs) rs1555455998
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
NM_001009944.3(PKD1):c.4601_4602delinsTT (p.Ser1534Ile)
NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter)
NM_001009944.3(PKD1):c.461C>T (p.Thr154Met) rs1441482246
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile)
NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=) rs71385734
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=) rs79884128
NM_001009944.3(PKD1):c.4709del (p.Thr1570fs) rs1555455797
NM_001009944.3(PKD1):c.4720G>A (p.Ala1574Thr) rs767157522
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro) rs541777274
NM_001009944.3(PKD1):c.4756G>A (p.Asp1586Asn) rs770968964
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707
NM_001009944.3(PKD1):c.4832_4836dup (p.Ala1613fs)
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter) rs566014072
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.4872C>T (p.Ile1624=) rs142575178
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.3(PKD1):c.4894_4901dup (p.Leu1635_Gln1636insTer) rs1567198410
NM_001009944.3(PKD1):c.4901G>T (p.Gly1634Val)
NM_001009944.3(PKD1):c.4905G>A (p.Leu1635=) rs748967532
NM_001009944.3(PKD1):c.4910T>G (p.Val1637Gly)
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)
NM_001009944.3(PKD1):c.4968T>C (p.Val1656=)
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile)
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457
NM_001009944.3(PKD1):c.5021del (p.Pro1674fs) rs1555455453
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=) rs772143717
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=) rs377662680
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5093G>C (p.Arg1698Pro) rs569887918
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=)
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=) rs9935526
NM_001009944.3(PKD1):c.5203A>T (p.Ser1735Cys) rs1064796417
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=) rs146915755
NM_001009944.3(PKD1):c.5245del (p.Val1749fs) rs1555455279
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.5279G>A (p.Trp1760Ter)
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759
NM_001009944.3(PKD1):c.5366C>G (p.Ser1789Ter) rs1377414968
NM_001009944.3(PKD1):c.5372A>C (p.Asn1791Thr) rs1335408319
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410
NM_001009944.3(PKD1):c.5411del (p.Gly1804fs)
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=) rs143916489
NM_001009944.3(PKD1):c.5469G>A (p.Val1823=) rs756513436
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) rs544092291
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.5557A>G (p.Thr1853Ala) rs1064797206
NM_001009944.3(PKD1):c.5589C>T (p.Ser1863=) rs775686229
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200
NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter) rs1567196052
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348
NM_001009944.3(PKD1):c.5657C>T (p.Pro1886Leu) rs80360487
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.5665G>A (p.Gly1889Ser)
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185
NM_001009944.3(PKD1):c.5693dup (p.Val1899fs) rs1567195868
NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=) rs773475991
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter)
NM_001009944.3(PKD1):c.5753C>T (p.Thr1918Ile) rs878915702
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.5809del (p.Ser1937fs) rs1555454915
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=)
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs) rs1567195285
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter)
NM_001009944.3(PKD1):c.5836C>A (p.His1946Asn) rs80360489
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.3(PKD1):c.5851C>A (p.Arg1951=) rs191717700
NM_001009944.3(PKD1):c.5852G>A (p.Arg1951Gln) rs137905643
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.3(PKD1):c.5896_5898GTG[1] (p.Val1967del) rs1555454847
NM_001009944.3(PKD1):c.5913delinsACC (p.Ser1972fs) rs1567194928
NM_001009944.3(PKD1):c.5937C>A (p.Cys1979Ter)
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr) rs771005067
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro)
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373
NM_001009944.3(PKD1):c.5987T>G (p.Val1996Gly)
NM_001009944.3(PKD1):c.5999C>G (p.Ser2000Cys)
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu)
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.603C>T (p.His201=) rs13334842
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071
NM_001009944.3(PKD1):c.6099G>A (p.Ala2033=) rs376744819
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288
NM_001009944.3(PKD1):c.6193del (p.Ala2065fs) rs1555454620
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=) rs886038370
NM_001009944.3(PKD1):c.6224G>A (p.Arg2075His) rs200930978
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121
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.6363C>T (p.Arg2121=) rs138648495
NM_001009944.3(PKD1):c.6394_6396TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235
NM_001009944.3(PKD1):c.6398dup (p.Val2134fs) rs1555454467
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr)
NM_001009944.3(PKD1):c.6424del (p.Gln2142fs) rs1060499702
NM_001009944.3(PKD1):c.6440_6467del (p.Arg2147fs) rs1567192790
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs) rs1567192623
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6565_6566GT[3] (p.Tyr2190fs)
NM_001009944.3(PKD1):c.6573C>T (p.Arg2191=) rs949370419
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.6587_6593dup (p.Gly2199fs) rs1567192229
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=) rs367600795
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6622G>C (p.Gly2208Arg) rs779825346
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu) rs1567218284
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347
NM_001009944.3(PKD1):c.6725_6726CA[1] (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter) rs1567191609
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu) rs1555454223
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
NM_001009944.3(PKD1):c.6771G>A (p.Val2257=) rs770172913
NM_001009944.3(PKD1):c.6784G>C (p.Gly2262Arg) rs1567191274
NM_001009944.3(PKD1):c.6792A>C (p.Ser2264=) rs142928249
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg) rs1555454145
NM_001009944.3(PKD1):c.6836G>A (p.Ser2279Asn) rs368363458
NM_001009944.3(PKD1):c.6877C>T (p.Pro2293Ser) rs1383657728
NM_001009944.3(PKD1):c.689G>C (p.Cys230Ser) rs1255640370
NM_001009944.3(PKD1):c.6911_6912CA[1] (p.Gln2305fs) rs1555454075
NM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter) rs1064793762
NM_001009944.3(PKD1):c.6915+19C>T rs371376951
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=) rs189277711
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met) rs564570407
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp) rs1114167370
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) rs184394342
NM_001009944.3(PKD1):c.6987_6993GCTGGCG[3] (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7010C>A (p.Thr2337Asn) rs1060499713
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val)
NM_001009944.3(PKD1):c.7066-5G>A rs372745980
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162
NM_001009944.3(PKD1):c.7107_7108GT[3] (p.Ser2372fs) rs1567187389
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7109G>C (p.Cys2370Ser) rs1567187434
NM_001009944.3(PKD1):c.7111del (p.Val2371fs) rs1567187420
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile) rs1555453383
NM_001009944.3(PKD1):c.7164C>G (p.Tyr2388Ter) rs1555453372
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=) rs2457533
NM_001009944.3(PKD1):c.7169_7171del (p.Glu2390del) rs1555453367
NM_001009944.3(PKD1):c.7170G>A (p.Glu2390=) rs1567187083
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7183A>T (p.Asn2395Tyr)
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met) rs1446061270
NM_001009944.3(PKD1):c.7265C>A (p.Thr2422Lys) rs1555453210
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr) rs1555453207
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) rs1555453207
NM_001009944.3(PKD1):c.7274del (p.Gly2425fs) rs1567186399
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084
NM_001009944.3(PKD1):c.7278T>C (p.Ser2426=) rs2575311
NM_001009944.3(PKD1):c.7280C>T (p.Ala2427Val) rs140494005
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln) rs201021499
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.7336_7338del (p.Phe2446del) rs1567186120
NM_001009944.3(PKD1):c.7353G>T (p.Leu2451=) rs1342647727
NM_001009944.3(PKD1):c.7375G>T (p.Gly2459Cys) rs1555453102
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943
NM_001009944.3(PKD1):c.739_740CT[3] (p.Cys248fs) rs1567218104
NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter) rs1453883641
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=) rs2003782
NM_001009944.3(PKD1):c.7448C>T (p.Ala2483Val) rs759448663
NM_001009944.3(PKD1):c.7470_7475del (p.Lys2490_His2492delinsAsn)
NM_001009944.3(PKD1):c.7490-19C>T rs767603290
NM_001009944.3(PKD1):c.7490-2A>T rs1567185163
NM_001009944.3(PKD1):c.7490-38C>T rs775658891
NM_001009944.3(PKD1):c.7493G>A (p.Trp2498Ter) rs1567185138
NM_001009944.3(PKD1):c.7495C>T (p.His2499Tyr) rs1439713011
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140
NM_001009944.3(PKD1):c.7544G>C (p.Arg2515Pro)
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7567_7569GAG[1] (p.Glu2524del) rs1555452876
NM_001009944.3(PKD1):c.7575C>T (p.Phe2525=) rs144409293
NM_001009944.3(PKD1):c.7587G>C (p.Lys2529Asn)
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=)
NM_001009944.3(PKD1):c.7622del (p.Pro2541fs) rs1555452849
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.3(PKD1):c.7646_7648del (p.Val2549del) rs1567184420
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=) rs530703053
NM_001009944.3(PKD1):c.7704-2_7712del rs1555452738
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=) rs28575767
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val) rs1555452734
NM_001009944.3(PKD1):c.7720C>T (p.Leu2574Phe) rs762784886
NM_001009944.3(PKD1):c.773C>T (p.Thr258Ile) rs754889452
NM_001009944.3(PKD1):c.7751_7754del (p.Leu2584fs) rs1567183784
NM_001009944.3(PKD1):c.7767C>T (p.His2589=) rs555499745
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr) rs529066905
NM_001009944.3(PKD1):c.7782_7783TG[3] (p.Leu2596fs) rs1567183633
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182
NM_001009944.3(PKD1):c.7818dup (p.His2607fs) rs1555452653
NM_001009944.3(PKD1):c.7856T>G (p.Leu2619Arg)
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter) rs762003393
NM_001009944.3(PKD1):c.7863+11C>T rs368629973
NM_001009944.3(PKD1):c.7863+13T>C rs115024665
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg) rs9936785
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)
NM_001009944.3(PKD1):c.7918G>T (p.Ala2640Ser)
NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs) rs1555452400
NM_001009944.3(PKD1):c.7946C>T (p.Thr2649Ile) rs1490043027
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533
NM_001009944.3(PKD1):c.8016+26T>C rs9934488
NM_001009944.3(PKD1):c.8016+2T>C
NM_001009944.3(PKD1):c.8017-29C>T rs546456429
NM_001009944.3(PKD1):c.8017-2A>G rs1567180640
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys)
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=)
NM_001009944.3(PKD1):c.8087T>G (p.Leu2696Arg) rs201238819
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter) rs1222094213
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_001009944.3(PKD1):c.8112_8132del (p.Gly2705_Ala2711del)
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=) rs375408086
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn) rs199700485
NM_001009944.3(PKD1):c.8136C>T (p.Ile2712=) rs754894798
NM_001009944.3(PKD1):c.8161+12C>T rs375283810
NM_001009944.3(PKD1):c.8161+21T>C rs4786209
NM_001009944.3(PKD1):c.8161+29G>A rs375810914
NM_001009944.3(PKD1):c.8161+38G>A rs57922772
NM_001009944.3(PKD1):c.8161+4C>T rs766547394
NM_001009944.3(PKD1):c.8161+5C>T rs534696523
NM_001009944.3(PKD1):c.8161+8G>A rs199569003
NM_001009944.3(PKD1):c.8162-12G>A rs375993328
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=) rs28674911
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560
NM_001009944.3(PKD1):c.8195G>A (p.Arg2732Gln) rs78185588
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569
NM_001009944.3(PKD1):c.8246C>T (p.Ala2749Val) rs773014664
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del) rs1555451280
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.8333del (p.Gly2778fs) rs1567178000
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs) rs1057518604
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro)
NM_001009944.3(PKD1):c.8405C>T (p.Pro2802Leu) rs534112936
NM_001009944.3(PKD1):c.8411G>A (p.Cys2804Tyr) rs1555451184
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) rs202086892
NM_001009944.3(PKD1):c.8423T>C (p.Ile2808Thr) rs1567177764
NM_001009944.3(PKD1):c.8427del (p.Glu2810fs) rs1567177760
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=) rs886038371
NM_001009944.3(PKD1):c.8444C>T (p.Ala2815Val) rs183084156
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser) rs1057523051
NM_001009944.3(PKD1):c.8499delinsAAAG (p.Phe2834_Pro2835insLys)
NM_001009944.3(PKD1):c.849_855TCTGGCC[1] (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.858T>C (p.Ser286=) rs886038372
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549
NM_001009944.3(PKD1):c.8590G>T (p.Glu2864Ter) rs374629549
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro)
NM_001009944.3(PKD1):c.8615T>A (p.Ile2872Asn)
NM_001009944.3(PKD1):c.8619C>T (p.Thr2873=) rs143419418
NM_001009944.3(PKD1):c.8620G>A (p.Val2874Met) rs574287355
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=)
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642
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.8712C>T (p.Ser2904=) rs757969966
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838
NM_001009944.3(PKD1):c.8751G>A (p.Ala2917=) rs746333408
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys) rs1229120097
NM_001009944.3(PKD1):c.8791+5G>A rs751652400
NM_001009944.3(PKD1):c.8791+5G>C rs751652400
NM_001009944.3(PKD1):c.8828C>T (p.Ala2943Val) rs1567175859
NM_001009944.3(PKD1):c.8830G>T (p.Val2944Phe) rs1555450761
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter) rs750780241
NM_001009944.3(PKD1):c.8896G>T (p.Glu2966Ter) rs773129632
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123
NM_001009944.3(PKD1):c.8898_8911dup (p.Ala2971fs) rs1555450672
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter) rs200520583
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr) rs1555450667
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309
NM_001009944.3(PKD1):c.8932_8934TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser)
NM_001009944.3(PKD1):c.8948+11C>T rs147923678
NM_001009944.3(PKD1):c.8948+15C>T rs778271516
NM_001009944.3(PKD1):c.8948+17A>G rs9928442
NM_001009944.3(PKD1):c.8949-17A>G rs9928278
NM_001009944.3(PKD1):c.8949-20G>A rs9936029
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385
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)
NM_001009944.3(PKD1):c.8978T>C (p.Leu2993Pro) rs1555450487
NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs) rs1555450475
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=) rs374619113
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.9065_9070del (p.Asp3022_Met3023del) rs1555450426
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) rs17135779
NM_001009944.3(PKD1):c.9067_9123del (p.Met3023_Ala3041del) rs1567174543
NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer) rs1555450424
NM_001009944.3(PKD1):c.9077G>C (p.Arg3026Pro)
NM_001009944.3(PKD1):c.9123C>T (p.Ala3041=) rs771451033
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189
NM_001009944.3(PKD1):c.9169G>A (p.Val3057Met) rs778055216
NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp) rs1057518856
NM_001009944.3(PKD1):c.9185T>G (p.Val3062Gly)
NM_001009944.3(PKD1):c.9195G>C (p.Val3065=) rs9935834
NM_001009944.3(PKD1):c.9195_9196delinsCC (p.Phe3066Leu) rs372874584
NM_001009944.3(PKD1):c.9196T>C (p.Phe3066Leu) rs9925969
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062
NM_001009944.3(PKD1):c.9201+5G>A
NM_001009944.3(PKD1):c.9231dup (p.Met3078fs) rs1567173968
NM_001009944.3(PKD1):c.9239C>G (p.Thr3080Arg) rs1322954391
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.9270C>T (p.Val3090=) rs149056734
NM_001009944.3(PKD1):c.9296A>T (p.Asp3099Val) rs1567173808
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=) rs12926160
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9397+3G>C rs1555450109
NM_001009944.3(PKD1):c.9398-1G>A rs1555449642
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9412dup (p.Val3138fs) rs1567171493
NM_001009944.3(PKD1):c.9431G>C (p.Gly3144Ala)
NM_001009944.3(PKD1):c.9451C>T (p.His3151Tyr)
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
NM_001009944.3(PKD1):c.9494T>C (p.Leu3165Pro) rs1555449597
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001009944.3(PKD1):c.9518C>T (p.Pro3173Leu) rs772608027
NM_001009944.3(PKD1):c.9518del (p.Pro3173fs) rs1567171182
NM_001009944.3(PKD1):c.9527T>A (p.Leu3176Gln)
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.9558C>G (p.His3186Gln)
NM_001009944.3(PKD1):c.9561_9563CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9563A>T (p.Asn3188Ile) rs1567171059
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9569-13T>C rs11248911
NM_001009944.3(PKD1):c.9582C>T (p.Ala3194=) rs1399957695
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala)
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) rs1085307551
NM_001009944.3(PKD1):c.964_965dup (p.His323fs) rs1567217428
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9690G>A (p.Val3230=) rs777968856
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr) rs143312683
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val) rs780284563
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal) rs1057516202
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser) rs1555449378
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs)
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001009944.3(PKD1):c.9841G>A (p.Ala3281Thr) rs1210319842
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile)
NM_001009944.3(PKD1):c.9867C>A (p.Cys3289Ter) rs1420757773
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498
NM_001009944.3(PKD1):c.9912_9913CT[1] (p.Ser3305fs) rs1567169638
NM_001009944.3(PKD1):c.9923+9C>T rs560457620
NM_001009944.3(PKD1):c.9925A>C (p.Thr3309Pro)
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met)
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684
NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs) rs796053523
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980
NM_001009944.3(PKD1):c.9994del (p.Val3332fs) rs1555449235
PKD1, 2-BP DEL, 5224AG
PKD1, 3-BP DEL, EX20 AND 8-BP DEL, EX21
PKD1, IVSDS, G-C, +1
Single allele

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