NM_000297.4(PKD2):c.595+207T>C
|
rs2725235
|
0.78129
|
NM_000297.4(PKD2):c.844-22G>A
|
rs2725221
|
0.66782
|
NM_000297.4(PKD2):c.1716+117A>G
|
rs2725210
|
0.33871
|
NM_000297.4(PKD2):c.1716+310T>C
|
rs2728103
|
0.32205
|
NM_000297.4(PKD2):c.2523-169T>C
|
rs2725203
|
0.31587
|
NM_000297.4(PKD2):c.2019+274C>A
|
rs2725207
|
0.30999
|
NM_000297.4(PKD2):c.*1237G>A
|
rs10965
|
0.25694
|
NM_000297.4(PKD2):c.2358+245A>T
|
rs11938025
|
0.25379
|
NM_000297.4(PKD2):c.1548+321A>G
|
rs10031265
|
0.21880
|
NM_000297.4(PKD2):c.*256C>T
|
rs2728121
|
0.13098
|
NM_000297.4(PKD2):c.1094+92A>G
|
rs17013735
|
0.10175
|
NM_000297.4(PKD2):c.1094+308T>C
|
rs2725219
|
0.08801
|
NM_000297.4(PKD2):c.1549-137T>C
|
rs2728104
|
0.08736
|
NM_000297.4(PKD2):c.*1030G>A
|
rs2725202
|
0.08186
|
NM_000297.4(PKD2):c.843+218C>A
|
rs2728109
|
0.07940
|
NM_000297.4(PKD2):c.1094+324T>A
|
rs7674673
|
0.05311
|
NM_000297.4(PKD2):c.709+300G>T
|
rs76951105
|
0.03913
|
NM_000297.4(PKD2):c.596-87T>A
|
rs72873461
|
0.03287
|
NM_000297.4(PKD2):c.1549-47C>T
|
rs75331451
|
0.01955
|
NM_000297.4(PKD2):c.596-16C>T
|
rs62310565
|
0.01932
|
NM_000297.4(PKD2):c.596-281C>T
|
rs858
|
0.01827
|
NM_000297.4(PKD2):c.1320-196A>T
|
rs77991231
|
0.01516
|
NM_000297.4(PKD2):c.1548+242T>C
|
rs76491349
|
0.01513
|
NM_000297.4(PKD2):c.2358+288T>A
|
rs188453003
|
0.01148
|
NM_000297.4(PKD2):c.2358+290A>G
|
rs192262797
|
0.01147
|
NM_000297.4(PKD2):c.*837C>G
|
rs77638442
|
0.01121
|
NM_000297.4(PKD2):c.710-29G>A
|
rs72873478
|
0.01046
|
NM_000297.4(PKD2):c.2358+23G>A
|
rs10516804
|
0.01042
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00985
|
NM_000297.4(PKD2):c.1549-117G>C
|
rs79352425
|
0.00965
|
NM_000297.4(PKD2):c.*1120C>T
|
rs116540621
|
0.00805
|
NM_000297.4(PKD2):c.2134T>C (p.Leu712=)
|
rs73841280
|
0.00563
|
NM_000297.4(PKD2):c.2119-35T>C
|
rs78885971
|
0.00524
|
NM_000297.4(PKD2):c.843+116A>G
|
rs114532947
|
0.00499
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_000297.4(PKD2):c.2240+114C>T
|
rs1282890679
|
0.00381
|
NM_000297.4(PKD2):c.1319+158G>A
|
rs192899890
|
0.00332
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
NM_000297.4(PKD2):c.2359-196A>C
|
rs144707808
|
0.00289
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_000297.4(PKD2):c.*239T>G
|
rs147418332
|
0.00237
|
NM_000297.4(PKD2):c.*384T>C
|
rs192342290
|
0.00237
|
NM_000297.4(PKD2):c.*1113G>A
|
rs541524392
|
0.00232
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00176
|
NM_000297.4(PKD2):c.*552G>A
|
rs139787413
|
0.00123
|
NM_000297.4(PKD2):c.*1397G>A
|
rs563444129
|
0.00102
|
NM_000297.4(PKD2):c.*957T>A
|
rs143594425
|
0.00098
|
NM_000297.4(PKD2):c.1830G>A (p.Ala610=)
|
rs144968710
|
0.00091
|
NM_000297.4(PKD2):c.2720G>A (p.Arg907Gln)
|
rs150947109
|
0.00086
|
NM_000297.4(PKD2):c.784G>A (p.Val262Met)
|
rs138132026
|
0.00078
|
NM_000297.4(PKD2):c.*174G>T
|
rs187001642
|
0.00069
|
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val)
|
rs1801612
|
0.00065
|
NM_000297.4(PKD2):c.1836T>C (p.Ala612=)
|
rs145952917
|
0.00048
|
NM_000297.4(PKD2):c.1617G>C (p.Leu539=)
|
rs145297759
|
0.00044
|
NM_000297.4(PKD2):c.*604G>A
|
rs377022187
|
0.00037
|
NM_000297.4(PKD2):c.*1997T>C
|
rs375324508
|
0.00036
|
NM_000297.4(PKD2):c.*794C>A
|
rs370387859
|
0.00036
|
NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln)
|
rs753359659
|
0.00036
|
NM_000297.4(PKD2):c.2829C>T (p.Ser943=)
|
rs138495345
|
0.00036
|
NM_000297.4(PKD2):c.*110T>G
|
rs563547032
|
0.00035
|
NM_000297.4(PKD2):c.*1588G>A
|
rs758211189
|
0.00034
|
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu)
|
rs143581690
|
0.00028
|
NM_000297.4(PKD2):c.595+15C>T
|
rs559555727
|
0.00026
|
NM_000297.4(PKD2):c.*1221T>C
|
rs577956232
|
0.00025
|
NM_000297.4(PKD2):c.*1406C>G
|
rs748885735
|
0.00023
|
NM_000297.4(PKD2):c.2866G>A (p.Glu956Lys)
|
rs142701912
|
0.00023
|
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=)
|
rs555242193
|
0.00017
|
NM_000297.4(PKD2):c.*1152T>C
|
rs367711189
|
0.00015
|
NM_000297.4(PKD2):c.1223G>T (p.Ser408Ile)
|
rs148386297
|
0.00014
|
NM_000297.4(PKD2):c.1459T>C (p.Tyr487His)
|
rs201328200
|
0.00014
|
NM_000297.4(PKD2):c.2583C>T (p.Asp861=)
|
rs369520452
|
0.00014
|
NM_000297.4(PKD2):c.752G>A (p.Arg251Gln)
|
rs147000344
|
0.00014
|
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala)
|
rs200314088
|
0.00013
|
NM_000297.4(PKD2):c.1092C>T (p.Thr364=)
|
rs149257723
|
0.00011
|
NM_000297.4(PKD2):c.2399T>C (p.Met800Thr)
|
rs376271163
|
0.00011
|
NM_000297.4(PKD2):c.2523-7C>T
|
rs199528409
|
0.00011
|
NM_000297.4(PKD2):c.1433T>G (p.Ile478Ser)
|
rs765496869
|
0.00010
|
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys)
|
rs150838063
|
0.00010
|
NM_000297.4(PKD2):c.733A>C (p.Asn245His)
|
rs200543024
|
0.00010
|
NM_000297.4(PKD2):c.1959T>C (p.Asn653=)
|
rs371979633
|
0.00009
|
NM_000297.4(PKD2):c.2391A>C (p.Pro797=)
|
rs556777891
|
0.00009
|
NM_000297.4(PKD2):c.2725G>A (p.Val909Ile)
|
rs140848008
|
0.00009
|
NM_000297.4(PKD2):c.709+17C>T
|
rs757367196
|
0.00009
|
NM_000297.4(PKD2):c.*1250A>G
|
rs971004998
|
0.00008
|
NM_000297.4(PKD2):c.1035T>C (p.Tyr345=)
|
rs113818977
|
0.00008
|
NM_000297.4(PKD2):c.1717-7C>T
|
rs201267638
|
0.00008
|
NM_000297.4(PKD2):c.2814A>G (p.Gln938=)
|
rs573469832
|
0.00008
|
NM_000297.4(PKD2):c.1549-4T>C
|
rs374450718
|
0.00007
|
NM_000297.4(PKD2):c.2283G>A (p.Lys761=)
|
rs753806545
|
0.00007
|
NM_000297.4(PKD2):c.2499C>T (p.Gly833=)
|
rs180709531
|
0.00007
|
NM_000297.4(PKD2):c.*744G>A
|
rs886059706
|
0.00006
|
NM_000297.4(PKD2):c.1654G>C (p.Ala552Pro)
|
rs369908107
|
0.00006
|
NM_000297.4(PKD2):c.2240+10A>G
|
rs201679112
|
0.00006
|
NM_000297.4(PKD2):c.*968A>G
|
rs531591196
|
0.00005
|
NM_000297.4(PKD2):c.1873G>A (p.Asp625Asn)
|
rs757573744
|
0.00005
|
NM_000297.4(PKD2):c.1927G>A (p.Asp643Asn)
|
rs748354306
|
0.00005
|
NM_000297.4(PKD2):c.2388A>G (p.Leu796=)
|
rs535577967
|
0.00005
|
NM_000297.4(PKD2):c.2491T>C (p.Ser831Pro)
|
rs149728995
|
0.00005
|
NM_000297.4(PKD2):c.1050C>T (p.Val350=)
|
rs767319449
|
0.00004
|
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val)
|
rs201504575
|
0.00004
|
NM_000297.4(PKD2):c.1487G>A (p.Arg496His)
|
rs746049242
|
0.00004
|
NM_000297.4(PKD2):c.1542C>T (p.Ile514=)
|
rs145716012
|
0.00004
|
NM_000297.4(PKD2):c.1555G>A (p.Val519Met)
|
rs148920907
|
0.00004
|
NM_000297.4(PKD2):c.2186T>A (p.Leu729Gln)
|
rs569788968
|
0.00004
|
NM_000297.4(PKD2):c.2241-9T>C
|
rs886059702
|
0.00004
|
NM_000297.4(PKD2):c.2338G>A (p.Asp780Asn)
|
rs773557612
|
0.00004
|
NM_000297.4(PKD2):c.2508C>T (p.Tyr836=)
|
rs757682666
|
0.00004
|
NM_000297.4(PKD2):c.2522+16T>C
|
rs202206741
|
0.00004
|
NM_000297.4(PKD2):c.2754C>T (p.Ser918=)
|
rs748855749
|
0.00004
|
NM_000297.4(PKD2):c.2792C>T (p.Thr931Met)
|
rs368926162
|
0.00004
|
NM_000297.4(PKD2):c.2901C>T (p.His967=)
|
rs757154198
|
0.00004
|
NM_000297.4(PKD2):c.794C>T (p.Thr265Met)
|
rs569250922
|
0.00004
|
NM_000297.4(PKD2):c.*1654T>C
|
rs778483971
|
0.00003
|
NM_000297.4(PKD2):c.1869C>G (p.Val623=)
|
rs148228357
|
0.00003
|
NM_000297.4(PKD2):c.2118+19C>T
|
rs777790980
|
0.00003
|
NM_000297.4(PKD2):c.2313C>T (p.Thr771=)
|
rs544014723
|
0.00003
|
NM_000297.4(PKD2):c.2408G>A (p.Arg803Gln)
|
rs771211716
|
0.00003
|
NM_000297.4(PKD2):c.2543G>A (p.Arg848Gln)
|
rs201598917
|
0.00003
|
NM_000297.4(PKD2):c.*1826A>G
|
rs189817187
|
0.00002
|
NM_000297.4(PKD2):c.1250G>A (p.Arg417Gln)
|
rs142261953
|
0.00002
|
NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys)
|
rs773998492
|
0.00002
|
NM_000297.4(PKD2):c.1781C>T (p.Ala594Val)
|
rs769963846
|
0.00002
|
NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp)
|
rs749112798
|
0.00002
|
NM_000297.4(PKD2):c.2214T>C (p.Phe738=)
|
rs772819278
|
0.00002
|
NM_000297.4(PKD2):c.2314G>A (p.Glu772Lys)
|
rs774525905
|
0.00002
|
NM_000297.4(PKD2):c.2448C>T (p.Asp816=)
|
rs371289455
|
0.00002
|
NM_000297.4(PKD2):c.2555C>G (p.Ser852Cys)
|
rs773003992
|
0.00002
|
NM_000297.4(PKD2):c.2586C>T (p.Ala862=)
|
rs373043298
|
0.00002
|
NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn)
|
rs370489860
|
0.00002
|
NM_000297.4(PKD2):c.2780A>C (p.His927Pro)
|
rs374072424
|
0.00002
|
NM_000297.4(PKD2):c.2816C>T (p.Pro939Leu)
|
rs750360835
|
0.00002
|
NM_000297.4(PKD2):c.961A>G (p.Ile321Val)
|
rs778569884
|
0.00002
|
NM_000297.4(PKD2):c.*116C>T
|
rs529071216
|
0.00001
|
NM_000297.4(PKD2):c.*1175T>A
|
rs886059707
|
0.00001
|
NM_000297.4(PKD2):c.*1291T>C
|
rs1325998362
|
0.00001
|
NM_000297.4(PKD2):c.*1941del
|
rs886059710
|
0.00001
|
NM_000297.4(PKD2):c.*351T>C
|
rs1166143834
|
0.00001
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
NM_000297.4(PKD2):c.1093G>A (p.Ala365Thr)
|
rs926203174
|
0.00001
|
NM_000297.4(PKD2):c.1094+1G>A
|
rs58606740
|
0.00001
|
NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr)
|
rs144431856
|
0.00001
|
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu)
|
rs1408612463
|
0.00001
|
NM_000297.4(PKD2):c.1153A>G (p.Thr385Ala)
|
rs1331921848
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.1281A>T (p.Ser427=)
|
rs367859449
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.1320G>A (p.Arg440=)
|
rs886041114
|
0.00001
|
NM_000297.4(PKD2):c.1395T>C (p.Tyr465=)
|
rs1199709583
|
0.00001
|
NM_000297.4(PKD2):c.1548+13A>G
|
rs1213173514
|
0.00001
|
NM_000297.4(PKD2):c.1548+9G>C
|
rs376901684
|
0.00001
|
NM_000297.4(PKD2):c.1658A>G (p.Tyr553Cys)
|
rs752554282
|
0.00001
|
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg)
|
rs181037821
|
0.00001
|
NM_000297.4(PKD2):c.1731C>G (p.Ile577Met)
|
rs985821858
|
0.00001
|
NM_000297.4(PKD2):c.1829C>T (p.Ala610Val)
|
rs1339345208
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.1902C>T (p.Phe634=)
|
rs368390451
|
0.00001
|
NM_000297.4(PKD2):c.1931T>C (p.Ile644Thr)
|
rs137929700
|
0.00001
|
NM_000297.4(PKD2):c.1938T>C (p.Phe646=)
|
rs772994340
|
0.00001
|
NM_000297.4(PKD2):c.1985C>T (p.Thr662Ile)
|
rs142983796
|
0.00001
|
NM_000297.4(PKD2):c.2020-14T>C
|
rs1164629640
|
0.00001
|
NM_000297.4(PKD2):c.2119-13C>T
|
rs755404719
|
0.00001
|
NM_000297.4(PKD2):c.2124C>T (p.Tyr708=)
|
rs772904125
|
0.00001
|
NM_000297.4(PKD2):c.2139C>T (p.Val713=)
|
rs200707583
|
0.00001
|
NM_000297.4(PKD2):c.2162C>G (p.Thr721Ser)
|
rs751589219
|
0.00001
|
NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser)
|
rs747895445
|
0.00001
|
NM_000297.4(PKD2):c.2205G>A (p.Lys735=)
|
rs368245083
|
0.00001
|
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)
|
rs121918040
|
0.00001
|
NM_000297.4(PKD2):c.2241-14C>T
|
rs763507546
|
0.00001
|
NM_000297.4(PKD2):c.2265T>C (p.Ile755=)
|
rs750408408
|
0.00001
|
NM_000297.4(PKD2):c.2295T>C (p.Asp765=)
|
rs138982773
|
0.00001
|
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter)
|
rs1276594505
|
0.00001
|
NM_000297.4(PKD2):c.2428G>A (p.Asp810Asn)
|
rs775470869
|
0.00001
|
NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn)
|
rs761597786
|
0.00001
|
NM_000297.4(PKD2):c.2460C>T (p.Ser820=)
|
rs572822238
|
0.00001
|
NM_000297.4(PKD2):c.2486G>A (p.Ser829Asn)
|
rs140589899
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.2560G>A (p.Gly854Ser)
|
rs1334898127
|
0.00001
|
NM_000297.4(PKD2):c.2585C>T (p.Ala862Val)
|
rs767919784
|
0.00001
|
NM_000297.4(PKD2):c.2592C>T (p.Ile864=)
|
rs1224247739
|
0.00001
|
NM_000297.4(PKD2):c.2613G>A (p.Glu871=)
|
rs1458107200
|
0.00001
|
NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys)
|
rs770609334
|
0.00001
|
NM_000297.4(PKD2):c.2714T>C (p.Met905Thr)
|
rs373039260
|
0.00001
|
NM_000297.4(PKD2):c.2743C>T (p.Arg915Cys)
|
rs1215199829
|
0.00001
|
NM_000297.4(PKD2):c.2762C>T (p.Ala921Val)
|
rs545898956
|
0.00001
|
NM_000297.4(PKD2):c.2837C>T (p.Pro946Leu)
|
rs370039125
|
0.00001
|
NM_000297.4(PKD2):c.2838A>G (p.Pro946=)
|
rs373794310
|
0.00001
|
NM_000297.4(PKD2):c.2902G>C (p.Val968Leu)
|
rs549787080
|
0.00001
|
NM_000297.4(PKD2):c.2904A>C (p.Val968=)
|
rs777215141
|
0.00001
|
NM_000297.4(PKD2):c.614T>A (p.Leu205His)
|
rs1064796616
|
0.00001
|
NM_000297.4(PKD2):c.621G>A (p.Glu207=)
|
rs769630264
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_000297.4(PKD2):c.710-10T>G
|
rs1727324181
|
0.00001
|
NM_000297.4(PKD2):c.710-11C>A
|
rs764334983
|
0.00001
|
NM_000297.4(PKD2):c.711G>C (p.Leu237Phe)
|
rs781318662
|
0.00001
|
NM_000297.4(PKD2):c.717C>T (p.Tyr239=)
|
rs780351760
|
0.00001
|
NM_000297.4(PKD2):c.724A>G (p.Met242Val)
|
rs748163182
|
0.00001
|
NM_000297.4(PKD2):c.783C>T (p.Pro261=)
|
rs766343471
|
0.00001
|
NM_000297.4(PKD2):c.795G>A (p.Thr265=)
|
rs758220304
|
0.00001
|
NM_000297.4(PKD2):c.843+6T>C
|
rs753371816
|
0.00001
|
NM_000297.4(PKD2):c.858C>A (p.Ser286=)
|
rs1181336830
|
0.00001
|
NM_000297.4(PKD2):c.900G>C (p.Gln300His)
|
rs1394365736
|
0.00001
|
NM_000297.4(PKD2):c.901A>G (p.Thr301Ala)
|
rs759567768
|
0.00001
|
NM_000297.4(PKD2):c.914A>G (p.Asn305Ser)
|
rs1727416682
|
0.00001
|
NM_000297.4(PKD2):c.945G>A (p.Leu315=)
|
rs201789789
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)
|
rs145877597
|
0.00001
|
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928399-88929179)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928399-88929365)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928399-88930841)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88930841)x4
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x0
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928738-88933584)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928777-88929230)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:88928816-88929179)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928816-88929365)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928816-88930841)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928877-88929179)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88928877-88929365)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88969129-88992580)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
|
|
|
NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del
|
|
|
NC_000004.11:g.88957372-?_89042944+?dup
|
|
|
NC_000004.12:g.(?_88038231)_(88075714_?)del
|
|
|
NC_000004.12:g.88007383G>C
|
rs9994525
|
|
NM_000297.4(PKD2):c.*1010G>A
|
rs144024108
|
|
NM_000297.4(PKD2):c.*1357CTT[1]
|
rs886059708
|
|
NM_000297.4(PKD2):c.*1611T>G
|
rs886059709
|
|
NM_000297.4(PKD2):c.*184dup
|
rs533244915
|
|
NM_000297.4(PKD2):c.*1972C>G
|
rs1721278680
|
|
NM_000297.4(PKD2):c.*2000G>A
|
rs182468664
|
|
NM_000297.4(PKD2):c.*235dup
|
rs200938134
|
|
NM_000297.4(PKD2):c.*507T>G
|
rs772523897
|
|
NM_000297.4(PKD2):c.*512_*513del
|
rs570887943
|
|
NM_000297.4(PKD2):c.*515A>G
|
rs1721229575
|
|
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)
|
rs2110107236
|
|
NM_000297.4(PKD2):c.1024A>G (p.Lys342Glu)
|
|
|
NM_000297.4(PKD2):c.1026del (p.Glu343fs)
|
|
|
NM_000297.4(PKD2):c.1027G>C (p.Glu343Gln)
|
rs2110107239
|
|
NM_000297.4(PKD2):c.1031_1032delinsTA (p.Cys344Leu)
|
|
|
NM_000297.4(PKD2):c.1033T>A (p.Tyr345Asn)
|
rs1485588385
|
|
NM_000297.4(PKD2):c.1034A>G (p.Tyr345Cys)
|
|
|
NM_000297.4(PKD2):c.1039del (p.Val347fs)
|
rs1727423812
|
|
NM_000297.4(PKD2):c.1043A>G (p.Tyr348Cys)
|
|
|
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs)
|
|
|
NM_000297.4(PKD2):c.1047dup (p.Val350fs)
|
rs1578130597
|
|
NM_000297.4(PKD2):c.1048G>T (p.Val350Phe)
|
|
|
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys)
|
rs375164861
|
|
NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly)
|
rs1560608801
|
|
NM_000297.4(PKD2):c.1071C>A (p.Pro357=)
|
|
|
NM_000297.4(PKD2):c.1087G>T (p.Gly363Ter)
|
|
|
NM_000297.4(PKD2):c.1088del (p.Gly363fs)
|
rs1553925467
|
|
NM_000297.4(PKD2):c.1092C>G (p.Thr364=)
|
|
|
NM_000297.4(PKD2):c.1094+1G>C
|
rs58606740
|
|
NM_000297.4(PKD2):c.1094+1del
|
rs2110107353
|
|
NM_000297.4(PKD2):c.1094+269G>C
|
rs2725220
|
|
NM_000297.4(PKD2):c.1094+315G>C
|
rs2725218
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1095-1G>T
|
|
|
NM_000297.4(PKD2):c.1095-2A>T
|
|
|
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys)
|
rs2110112018
|
|
NM_000297.4(PKD2):c.1104C>T (p.Tyr368=)
|
|
|
NM_000297.4(PKD2):c.1106C>G (p.Thr369Arg)
|
rs2110112025
|
|
NM_000297.4(PKD2):c.1114A>G (p.Lys372Glu)
|
rs188394492
|
|
NM_000297.4(PKD2):c.1116dup (p.Asp373fs)
|
rs2110112037
|
|
NM_000297.4(PKD2):c.1126G>A (p.Gly376Ser)
|
|
|
NM_000297.4(PKD2):c.1129A>C (p.Ser377Arg)
|
|
|
NM_000297.4(PKD2):c.1130G>A (p.Ser377Asn)
|
|
|
NM_000297.4(PKD2):c.1133G>A (p.Ser378Asn)
|
|
|
NM_000297.4(PKD2):c.1136A>G (p.His379Arg)
|
|
|
NM_000297.4(PKD2):c.1137C>G (p.His379Gln)
|
|
|
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)
|
rs121918039
|
|
NM_000297.4(PKD2):c.1140G>A (p.Trp380Ter)
|
|
|
NM_000297.4(PKD2):c.1144A>C (p.Ile382Leu)
|
|
|
NM_000297.4(PKD2):c.1144A>G (p.Ile382Val)
|
|
|
NM_000297.4(PKD2):c.1146C>A (p.Ile382=)
|
rs1351905972
|
|
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs)
|
rs2110112083
|
|
NM_000297.4(PKD2):c.1152A>T (p.Ala384=)
|
|
|
NM_000297.4(PKD2):c.1158T>G (p.Tyr386Ter)
|
rs571950456
|
|
NM_000297.4(PKD2):c.1161T>C (p.Ser387=)
|
|
|
NM_000297.4(PKD2):c.1168G>A (p.Gly390Ser)
|
rs1578133666
|
|
NM_000297.4(PKD2):c.1172A>G (p.Tyr391Cys)
|
|
|
NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter)
|
rs924484889
|
|
NM_000297.4(PKD2):c.1176T>C (p.Tyr392=)
|
|
|
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs)
|
rs1727648258
|
|
NM_000297.4(PKD2):c.1181_1183del (p.Asp394_Leu395delinsVal)
|
|
|
NM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs)
|
rs1578133684
|
|
NM_000297.4(PKD2):c.1194_1195del (p.Glu400fs)
|
rs1727649413
|
|
NM_000297.4(PKD2):c.1197del (p.Glu400fs)
|
rs2110112181
|
|
NM_000297.4(PKD2):c.1205C>T (p.Thr402Ile)
|
rs2110112190
|
|
NM_000297.4(PKD2):c.1205del (p.Thr402fs)
|
rs2110112194
|
|
NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter)
|
rs121918041
|
|
NM_000297.4(PKD2):c.1219G>A (p.Ala407Thr)
|
|
|
NM_000297.4(PKD2):c.1231_1239dup (p.Val413_Trp414insLysAsnVal)
|
|
|
NM_000297.4(PKD2):c.1235dup (p.Asn412fs)
|
rs1727650877
|
|
NM_000297.4(PKD2):c.1242G>T (p.Trp414Cys)
|
rs1553925852
|
|
NM_000297.4(PKD2):c.1246G>C (p.Asp416His)
|
|
|
NM_000297.4(PKD2):c.1257C>T (p.Thr419=)
|
|
|
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly)
|
rs1727651995
|
|
NM_000297.4(PKD2):c.1259G>A (p.Arg420Lys)
|
|
|
NM_000297.4(PKD2):c.1261G>A (p.Ala421Thr)
|
rs748280556
|
|
NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser)
|
rs748280556
|
|
NM_000297.4(PKD2):c.1262C>A (p.Ala421Glu)
|
rs1727652224
|
|
NM_000297.4(PKD2):c.1271T>C (p.Ile424Thr)
|
|
|
NM_000297.4(PKD2):c.1273G>C (p.Asp425His)
|
rs1727652728
|
|
NM_000297.4(PKD2):c.1276T>C (p.Phe426Leu)
|
|
|
NM_000297.4(PKD2):c.1276T>G (p.Phe426Val)
|
|
|
NM_000297.4(PKD2):c.1278C>T (p.Phe426=)
|
|
|
NM_000297.4(PKD2):c.1283T>C (p.Val428Ala)
|
|
|
NM_000297.4(PKD2):c.1283T>G (p.Val428Gly)
|
|
|
NM_000297.4(PKD2):c.1284G>A (p.Val428=)
|
|
|
NM_000297.4(PKD2):c.1290C>A (p.Asn430Lys)
|
rs554608570
|
|
NM_000297.4(PKD2):c.1290C>T (p.Asn430=)
|
|
|
NM_000297.4(PKD2):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000297.4(PKD2):c.1298T>C (p.Ile433Thr)
|
rs1192846098
|
|
NM_000297.4(PKD2):c.1319+13G>A
|
|
|
NM_000297.4(PKD2):c.1319+5G>A
|
rs2110112343
|
|
NM_000297.4(PKD2):c.1320-15C>G
|
|
|
NM_000297.4(PKD2):c.1320-18G>A
|
|
|
NM_000297.4(PKD2):c.1320-2del
|
rs1578135823
|
|
NM_000297.4(PKD2):c.1320-3C>A
|
rs2110115733
|
|
NM_000297.4(PKD2):c.1320-6A>G
|
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1322dup (p.Leu441fs)
|
rs1727782355
|
|
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)
|
rs1391596181
|
|
NM_000297.4(PKD2):c.1325del (p.Leu442fs)
|
rs1578135829
|
|
NM_000297.4(PKD2):c.1326G>T (p.Leu442Phe)
|
|
|
NM_000297.4(PKD2):c.1342A>G (p.Thr448Ala)
|
rs745700907
|
|
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg)
|
rs1727783547
|
|
NM_000297.4(PKD2):c.1346G>A (p.Gly449Asp)
|
rs1131408
|
|
NM_000297.4(PKD2):c.1346G>C (p.Gly449Ala)
|
|
|
NM_000297.4(PKD2):c.1346G>T (p.Gly449Val)
|
rs1131408
|
|
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)
|
rs1578135842
|
|
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)
|
rs1578135870
|
|
NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter)
|
rs2110115819
|
|
NM_000297.4(PKD2):c.1368A>G (p.Gln456=)
|
|
|
NM_000297.4(PKD2):c.1373A>C (p.Gln458Pro)
|
|
|
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)
|
rs121918042
|
|
NM_000297.4(PKD2):c.1390del (p.Arg464fs)
|
rs1727786451
|
|
NM_000297.4(PKD2):c.1396G>T (p.Val466Phe)
|
|
|
NM_000297.4(PKD2):c.1405T>G (p.Phe469Val)
|
|
|
NM_000297.4(PKD2):c.1423G>T (p.Ala475Ser)
|
|
|
NM_000297.4(PKD2):c.1437C>T (p.Ile479=)
|
|
|
NM_000297.4(PKD2):c.1445del (p.Phe482fs)
|
rs1578135940
|
|
NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter)
|
rs1135401753
|
|
NM_000297.4(PKD2):c.1460A>G (p.Tyr487Cys)
|
|
|
NM_000297.4(PKD2):c.1469A>T (p.Glu490Val)
|
rs1727790126
|
|
NM_000297.4(PKD2):c.1477T>C (p.Leu493=)
|
|
|
NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter)
|
rs1727790591
|
|
NM_000297.4(PKD2):c.1486C>T (p.Arg496Cys)
|
rs977431912
|
|
NM_000297.4(PKD2):c.1489A>G (p.Ile497Val)
|
|
|
NM_000297.4(PKD2):c.1492C>G (p.His498Asp)
|
rs1553926080
|
|
NM_000297.4(PKD2):c.1492C>T (p.His498Tyr)
|
rs1553926080
|
|
NM_000297.4(PKD2):c.1496A>G (p.Lys499Arg)
|
rs1727791483
|
|
NM_000297.4(PKD2):c.1500A>G (p.Leu500=)
|
|
|
NM_000297.4(PKD2):c.1502A>G (p.His501Arg)
|
|
|
NM_000297.4(PKD2):c.1508del (p.Phe503fs)
|
|
|
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)
|
|
|
NM_000297.4(PKD2):c.1523A>G (p.Asn508Ser)
|
|
|
NM_000297.4(PKD2):c.1532A>T (p.Asp511Val)
|
rs121918043
|
|
NM_000297.4(PKD2):c.1542C>G (p.Ile514Met)
|
|
|
NM_000297.4(PKD2):c.1548+10A>G
|
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.1548+314dup
|
rs35144940
|
|
NM_000297.4(PKD2):c.1548G>A (p.Val516=)
|
|
|
NM_000297.4(PKD2):c.1548_1548+2del
|
|
|
NM_000297.4(PKD2):c.1549-1G>A
|
rs1720121027
|
|
NM_000297.4(PKD2):c.1549-20A>G
|
|
|
NM_000297.4(PKD2):c.1551del (p.Ser518fs)
|
rs776718970
|
|
NM_000297.4(PKD2):c.1556T>A (p.Val519Glu)
|
|
|
NM_000297.4(PKD2):c.1557G>A (p.Val519=)
|
|
|
NM_000297.4(PKD2):c.1564A>C (p.Ile522Leu)
|
|
|
NM_000297.4(PKD2):c.1564A>G (p.Ile522Val)
|
|
|
NM_000297.4(PKD2):c.1565T>C (p.Ile522Thr)
|
|
|
NM_000297.4(PKD2):c.1573A>C (p.Asn525His)
|
rs1720121916
|
|
NM_000297.4(PKD2):c.1577T>A (p.Ile526Lys)
|
rs1578139175
|
|
NM_000297.4(PKD2):c.1579_1580del (p.Tyr527fs)
|
rs1553926509
|
|
NM_000297.4(PKD2):c.1580A>G (p.Tyr527Cys)
|
|
|
NM_000297.4(PKD2):c.1587A>T (p.Thr529=)
|
rs375543446
|
|
NM_000297.4(PKD2):c.1591A>G (p.Asn531Asp)
|
|
|
NM_000297.4(PKD2):c.1594G>T (p.Val532Leu)
|
|
|
NM_000297.4(PKD2):c.1604T>C (p.Leu535Pro)
|
|
|
NM_000297.4(PKD2):c.1606C>T (p.Leu536=)
|
rs983462333
|
|
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter)
|
rs1720124087
|
|
NM_000297.4(PKD2):c.1617G>A (p.Leu539=)
|
rs145297759
|
|
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs)
|
rs1560617356
|
|
NM_000297.4(PKD2):c.1641C>A (p.Asn547Lys)
|
|
|
NM_000297.4(PKD2):c.1645dup (p.Glu549fs)
|
|
|
NM_000297.4(PKD2):c.1646A>G (p.Glu549Gly)
|
|
|
NM_000297.4(PKD2):c.1654G>A (p.Ala552Thr)
|
|
|
NM_000297.4(PKD2):c.1662G>A (p.Trp554Ter)
|
rs1720126853
|
|
NM_000297.4(PKD2):c.1663C>T (p.Gln555Ter)
|
rs1720127024
|
|
NM_000297.4(PKD2):c.1668dup (p.Gln557fs)
|
rs1578139269
|
|
NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter)
|
rs1273223177
|
|
NM_000297.4(PKD2):c.1671G>A (p.Gln557=)
|
|
|
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs)
|
rs1553926529
|
|
NM_000297.4(PKD2):c.1678_1679del (p.Asn560fs)
|
|
|
NM_000297.4(PKD2):c.1704dup (p.Val569fs)
|
rs1720128947
|
|
NM_000297.4(PKD2):c.1705G>T (p.Val569Phe)
|
|
|
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu)
|
rs1720129428
|
|
NM_000297.4(PKD2):c.1716+137del
|
rs70957296
|
|
NM_000297.4(PKD2):c.1716+14T>G
|
|
|
NM_000297.4(PKD2):c.1716+17A>G
|
rs142580445
|
|
NM_000297.4(PKD2):c.1716+18T>C
|
|
|
NM_000297.4(PKD2):c.1716+2T>A
|
rs1720129561
|
|
NM_000297.4(PKD2):c.1717-20A>G
|
|
|
NM_000297.4(PKD2):c.1717-33C>T
|
|
|
NM_000297.4(PKD2):c.1717-6T>A
|
|
|
NM_000297.4(PKD2):c.1725A>G (p.Lys575=)
|
|
|
NM_000297.4(PKD2):c.1733A>G (p.Asn578Ser)
|
|
|
NM_000297.4(PKD2):c.1737_1746delinsAACAGG (p.Phe579Leufs)
|
rs1560620277
|
|
NM_000297.4(PKD2):c.1743G>A (p.Arg581=)
|
|
|
NM_000297.4(PKD2):c.1755G>C (p.Gln585His)
|
|
|
NM_000297.4(PKD2):c.1760C>T (p.Ser587Leu)
|
|
|
NM_000297.4(PKD2):c.1762A>G (p.Thr588Ala)
|
|
|
NM_000297.4(PKD2):c.1765A>G (p.Thr589Ala)
|
rs777230304
|
|
NM_000297.4(PKD2):c.1766C>A (p.Thr589Asn)
|
rs1553926904
|
|
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)
|
rs1553926905
|
|
NM_000297.4(PKD2):c.1775G>C (p.Arg592Pro)
|
|
|
NM_000297.4(PKD2):c.1781C>A (p.Ala594Asp)
|
|
|
NM_000297.4(PKD2):c.1790T>G (p.Leu597Arg)
|
|
|
NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)
|
|
|
NM_000297.4(PKD2):c.1796G>A (p.Gly599Asp)
|
rs1560620374
|
|
NM_000297.4(PKD2):c.1807dup (p.Met603fs)
|
rs1578141765
|
|
NM_000297.4(PKD2):c.1808T>C (p.Met603Thr)
|
|
|
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del)
|
rs1720323681
|
|
NM_000297.4(PKD2):c.1816A>T (p.Ile606Phe)
|
rs755666887
|
|
NM_000297.4(PKD2):c.1824C>A (p.Phe608Leu)
|
|
|
NM_000297.4(PKD2):c.1827A>G (p.Leu609=)
|
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)
|
|
|
NM_000297.4(PKD2):c.1857del (p.Phe619fs)
|
rs1720325511
|
|
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
|
|
|
NM_000297.4(PKD2):c.1868_1872del (p.Val623fs)
|
rs1720325828
|
|
NM_000297.4(PKD2):c.1893G>A (p.Glu631=)
|
|
|
NM_000297.4(PKD2):c.1896T>C (p.Cys632=)
|
|
|
NM_000297.4(PKD2):c.1898+11A>G
|
rs768940917
|
|
NM_000297.4(PKD2):c.1899-10A>C
|
|
|
NM_000297.4(PKD2):c.1899-17T>C
|
|
|
NM_000297.4(PKD2):c.1899-2A>T
|
|
|
NM_000297.4(PKD2):c.1899-4A>C
|
|
|
NM_000297.4(PKD2):c.1899-6T>G
|
rs398123306
|
|
NM_000297.4(PKD2):c.1903A>C (p.Thr635Pro)
|
rs2110129485
|
|
NM_000297.4(PKD2):c.1904C>G (p.Thr635Ser)
|
|
|
NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys)
|
rs398123307
|
|
NM_000297.4(PKD2):c.1912C>T (p.Arg638Cys)
|
|
|
NM_000297.4(PKD2):c.1913G>A (p.Arg638His)
|
|
|
NM_000297.4(PKD2):c.1915A>T (p.Ile639Phe)
|
rs964798879
|
|
NM_000297.4(PKD2):c.1918A>G (p.Ile640Val)
|
|
|
NM_000297.4(PKD2):c.1925del (p.Gly642fs)
|
|
|
NM_000297.4(PKD2):c.1929T>C (p.Asp643=)
|
|
|
NM_000297.4(PKD2):c.1929dup (p.Ile644fs)
|
rs1720428157
|
|
NM_000297.4(PKD2):c.1934A>G (p.Asn645Ser)
|
rs1720428369
|
|
NM_000297.4(PKD2):c.1934_1935delinsT (p.Asn645fs)
|
rs1560621750
|
|
NM_000297.4(PKD2):c.1945A>G (p.Ile649Val)
|
|
|
NM_000297.4(PKD2):c.1948G>A (p.Glu650Lys)
|
|
|
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter)
|
rs146396414
|
|
NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp)
|
rs138476749
|
|
NM_000297.4(PKD2):c.1969G>A (p.Gly657Arg)
|
|
|
NM_000297.4(PKD2):c.1973del (p.Pro658fs)
|
rs1720429890
|
|
NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs)
|
rs2110129645
|
|
NM_000297.4(PKD2):c.1985del (p.Thr662fs)
|
rs2110129653
|
|
NM_000297.4(PKD2):c.1986T>C (p.Thr662=)
|
|
|
NM_000297.4(PKD2):c.1986del (p.Thr663fs)
|
rs1720430411
|
|
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile)
|
rs1720430638
|
|
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs)
|
rs1720431219
|
|
NM_000297.4(PKD2):c.2014C>G (p.Leu672Val)
|
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2019+1_2019+5del
|
rs1578142941
|
|
NM_000297.4(PKD2):c.2019+3A>G
|
rs2110129703
|
|
NM_000297.4(PKD2):c.2019+5G>A
|
rs1578142944
|
|
NM_000297.4(PKD2):c.2019G>T (p.Leu673Phe)
|
|
|
NM_000297.4(PKD2):c.2020-158del
|
rs60055635
|
|
NM_000297.4(PKD2):c.2020-158dup
|
rs60055635
|
|
NM_000297.4(PKD2):c.2020-19T>C
|
rs776437852
|
|
NM_000297.4(PKD2):c.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.2020-2A>G
|
|
|
NM_000297.4(PKD2):c.2020-2del
|
rs2110133920
|
|
NM_000297.4(PKD2):c.2020-5A>G
|
rs2110133917
|
|
NM_000297.4(PKD2):c.2035A>G (p.Ile679Val)
|
|
|
NM_000297.4(PKD2):c.2040C>T (p.Ile680=)
|
|
|
NM_000297.4(PKD2):c.2042A>G (p.Asn681Ser)
|
|
|
NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs)
|
|
|
NM_000297.4(PKD2):c.2051_2053del (p.Tyr684del)
|
rs1578144872
|
|
NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter)
|
rs1578144873
|
|
NM_000297.4(PKD2):c.2052C>A (p.Tyr684Ter)
|
rs2110133998
|
|
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu)
|
rs2110134005
|
|
NM_000297.4(PKD2):c.2089G>C (p.Glu697Gln)
|
|
|
NM_000297.4(PKD2):c.2093T>C (p.Met698Thr)
|
|
|
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs)
|
rs1578144898
|
|
NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter)
|
|
|
NM_000297.4(PKD2):c.2106T>A (p.Asp702Glu)
|
rs1409281141
|
|
NM_000297.4(PKD2):c.2118+10del
|
|
|
NM_000297.4(PKD2):c.2118+10dup
|
rs756472871
|
|
NM_000297.4(PKD2):c.2118+1G>C
|
rs1720594399
|
|
NM_000297.4(PKD2):c.2118+2T>C
|
|
|
NM_000297.4(PKD2):c.2118+8A>G
|
|
|
NM_000297.4(PKD2):c.2119-1603_2522+740del
|
|
|
NM_000297.4(PKD2):c.2119-2A>G
|
rs1720752309
|
|
NM_000297.4(PKD2):c.2125del (p.His709fs)
|
rs2110137964
|
|
NM_000297.4(PKD2):c.2139C>G (p.Val713=)
|
|
|
NM_000297.4(PKD2):c.2140A>G (p.Lys714Glu)
|
|
|
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile)
|
rs943891159
|
|
NM_000297.4(PKD2):c.2154A>C (p.Lys718Asn)
|
|
|
NM_000297.4(PKD2):c.2159del (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2163C>T (p.Thr721=)
|
|
|
NM_000297.4(PKD2):c.2164G>A (p.Val722Met)
|
|
|
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu)
|
rs529945469
|
|
NM_000297.4(PKD2):c.2178A>T (p.Ser726=)
|
|
|
NM_000297.4(PKD2):c.2178dup (p.Glu727fs)
|
|
|
NM_000297.4(PKD2):c.2184_2185delinsAG (p.Ser728_Leu729delinsArgVal)
|
|
|
NM_000297.4(PKD2):c.2186T>C (p.Leu729Pro)
|
|
|
NM_000297.4(PKD2):c.2189G>A (p.Arg730Gln)
|
|
|
NM_000297.4(PKD2):c.2196A>C (p.Gly732=)
|
rs2110138104
|
|
NM_000297.4(PKD2):c.2197G>T (p.Gly733Ter)
|
rs778707203
|
|
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser)
|
rs868519938
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000297.4(PKD2):c.2210del (p.Asn737fs)
|
|
|
NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter)
|
rs770308463
|
|
NM_000297.4(PKD2):c.2231A>G (p.Asp744Gly)
|
rs763311767
|
|
NM_000297.4(PKD2):c.2240+113del
|
rs111465406
|
|
NM_000297.4(PKD2):c.2240+113dup
|
rs111465406
|
|
NM_000297.4(PKD2):c.2240+1G>A
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2240+1G>C
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2241-12C>T
|
|
|
NM_000297.4(PKD2):c.2241-2A>G
|
rs1560626499
|
|
NM_000297.4(PKD2):c.2241-8A>G
|
|
|
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter)
|
rs1578147448
|
|
NM_000297.4(PKD2):c.2246G>A (p.Gly749Asp)
|
|
|
NM_000297.4(PKD2):c.2262G>A (p.Glu754=)
|
|
|
NM_000297.4(PKD2):c.2272A>G (p.Ile758Val)
|
|
|
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs)
|
rs1560626561
|
|
NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs)
|
rs1553927823
|
|
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2286C>G (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2291A>T (p.Gln764Leu)
|
rs1553927827
|
|
NM_000297.4(PKD2):c.2302C>G (p.Gln768Glu)
|
|
|
NM_000297.4(PKD2):c.2305G>T (p.Glu769Ter)
|
rs1255557802
|
|
NM_000297.4(PKD2):c.2313C>A (p.Thr771=)
|
rs544014723
|
|
NM_000297.4(PKD2):c.2313C>G (p.Thr771=)
|
|
|
NM_000297.4(PKD2):c.2317C>T (p.His773Tyr)
|
|
|
NM_000297.4(PKD2):c.2318A>G (p.His773Arg)
|
rs748554287
|
|
NM_000297.4(PKD2):c.2333T>C (p.Met778Thr)
|
rs2110138695
|
|
NM_000297.4(PKD2):c.2336G>A (p.Arg779Lys)
|
|
|
NM_000297.4(PKD2):c.2338G>C (p.Asp780His)
|
rs773557612
|
|
NM_000297.4(PKD2):c.2340C>A (p.Asp780Glu)
|
|
|
NM_000297.4(PKD2):c.2340C>T (p.Asp780=)
|
|
|
NM_000297.4(PKD2):c.2341G>T (p.Asp781Tyr)
|
|
|
NM_000297.4(PKD2):c.2343C>A (p.Asp781Glu)
|
|
|
NM_000297.4(PKD2):c.2351_2354del (p.Lys784fs)
|
|
|
NM_000297.4(PKD2):c.2352A>G (p.Lys784=)
|
|
|
NM_000297.4(PKD2):c.2353G>A (p.Glu785Lys)
|
|
|
NM_000297.4(PKD2):c.2358+1G>A
|
|
|
NM_000297.4(PKD2):c.2358+1G>C
|
rs2110138755
|
|
NM_000297.4(PKD2):c.2358+1G>T
|
|
|
NM_000297.4(PKD2):c.2358+5G>A
|
rs1720774022
|
|
NM_000297.4(PKD2):c.2358+6T>C
|
|
|
NM_000297.4(PKD2):c.2358+8_2358+21del
|
rs747163995
|
|
NM_000297.4(PKD2):c.2359-12C>G
|
|
|
NM_000297.4(PKD2):c.2359-20A>G
|
|
|
NM_000297.4(PKD2):c.2359-7del
|
rs1034495207
|
|
NM_000297.4(PKD2):c.2359-7dup
|
|
|
NM_000297.4(PKD2):c.2377C>T (p.His793Tyr)
|
rs1720855480
|
|
NM_000297.4(PKD2):c.2378_2384del (p.His793fs)
|
rs1720855394
|
|
NM_000297.4(PKD2):c.2383T>C (p.Ser795Pro)
|
|
|
NM_000297.4(PKD2):c.2388A>T (p.Leu796Phe)
|
|
|
NM_000297.4(PKD2):c.2393G>A (p.Arg798His)
|
|
|
NM_000297.4(PKD2):c.2400G>A (p.Met800Ile)
|
|
|
NM_000297.4(PKD2):c.2407C>G (p.Arg803Gly)
|
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.2416C>T (p.Pro806Ser)
|
|
|
NM_000297.4(PKD2):c.2435_2436del (p.Asp811_Ser812insTer)
|
|
|
NM_000297.4(PKD2):c.2440G>T (p.Glu814Ter)
|
rs1578148821
|
|
NM_000297.4(PKD2):c.2444A>G (p.Asp815Gly)
|
|
|
NM_000297.4(PKD2):c.2461G>A (p.Gly821Arg)
|
|
|
NM_000297.4(PKD2):c.2475_2477del (p.Arg827del)
|
|
|
NM_000297.4(PKD2):c.2484A>G (p.Gly828=)
|
rs889600957
|
|
NM_000297.4(PKD2):c.2498del (p.Gly833fs)
|
|
|
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
|
|
|
NM_000297.4(PKD2):c.2503dup (p.Ser835fs)
|
rs1560628245
|
|
NM_000297.4(PKD2):c.2508C>A (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.2509G>A (p.Glu837Lys)
|
|
|
NM_000297.4(PKD2):c.2517del (p.Gln840fs)
|
rs2110141387
|
|
NM_000297.4(PKD2):c.2522+12G>A
|
|
|
NM_000297.4(PKD2):c.2522+1G>T
|
|
|
NM_000297.4(PKD2):c.2522+1_2522+2del
|
rs1720863460
|
|
NM_000297.4(PKD2):c.2522+2dup
|
|
|
NM_000297.4(PKD2):c.2523-1G>A
|
rs1553928728
|
|
NM_000297.4(PKD2):c.2523-3C>A
|
|
|
NM_000297.4(PKD2):c.2524del (p.Leu842fs)
|
rs1553928730
|
|
NM_000297.4(PKD2):c.2525T>G (p.Leu842Arg)
|
rs1721170351
|
|
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)
|
rs1560632930
|
|
NM_000297.4(PKD2):c.2534G>C (p.Arg845Pro)
|
rs755031837
|
|
NM_000297.4(PKD2):c.2539G>A (p.Asp847Asn)
|
|
|
NM_000297.4(PKD2):c.2548dup (p.Glu850fs)
|
|
|
NM_000297.4(PKD2):c.2549A>G (p.Glu850Gly)
|
rs1721172803
|
|
NM_000297.4(PKD2):c.2559C>T (p.Ile853=)
|
|
|
NM_000297.4(PKD2):c.2563A>G (p.Ser855Gly)
|
|
|
NM_000297.4(PKD2):c.2568dup (p.Val857fs)
|
rs1578153553
|
|
NM_000297.4(PKD2):c.2570T>C (p.Val857Ala)
|
|
|
NM_000297.4(PKD2):c.2571G>A (p.Val857=)
|
|
|
NM_000297.4(PKD2):c.2572T>A (p.Ser858Thr)
|
|
|
NM_000297.4(PKD2):c.2584del (p.Ala862fs)
|
rs2110150747
|
|
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)
|
rs1578153598
|
|
NM_000297.4(PKD2):c.2602G>A (p.Glu868Lys)
|
rs754032659
|
|
NM_000297.4(PKD2):c.2614C>A (p.Arg872=)
|
|
|
NM_000297.4(PKD2):c.2614C>G (p.Arg872Gly)
|
rs755226061
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.2615G>A (p.Arg872Gln)
|
|
|
NM_000297.4(PKD2):c.2627A>G (p.Lys876Arg)
|
rs2110150855
|
|
NM_000297.4(PKD2):c.2629AGG[1] (p.Arg878del)
|
|
|
NM_000297.4(PKD2):c.2637G>A (p.Glu879=)
|
|
|
NM_000297.4(PKD2):c.2649del (p.Arg883fs)
|
|
|
NM_000297.4(PKD2):c.2651T>C (p.Leu884Pro)
|
|
|
NM_000297.4(PKD2):c.2652G>A (p.Leu884=)
|
|
|
NM_000297.4(PKD2):c.2667C>T (p.Ala889=)
|
|
|
NM_000297.4(PKD2):c.2670+12T>C
|
|
|
NM_000297.4(PKD2):c.2670+27G>A
|
|
|
NM_000297.4(PKD2):c.2670G>A (p.Glu890=)
|
rs2110150904
|
|
NM_000297.4(PKD2):c.2671-14T>A
|
|
|
NM_000297.4(PKD2):c.2671-3dup
|
|
|
NM_000297.4(PKD2):c.2671G>T (p.Asp891Tyr)
|
|
|
NM_000297.4(PKD2):c.2687G>A (p.Arg896His)
|
|
|
NM_000297.4(PKD2):c.2692A>C (p.Ser898Arg)
|
|
|
NM_000297.4(PKD2):c.2703T>C (p.His901=)
|
|
|
NM_000297.4(PKD2):c.2707G>C (p.Glu903Gln)
|
|
|
NM_000297.4(PKD2):c.2719C>T (p.Arg907Trp)
|
|
|
NM_000297.4(PKD2):c.2728C>T (p.Arg910Cys)
|
rs377398357
|
|
NM_000297.4(PKD2):c.2729G>A (p.Arg910His)
|
|
|
NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro)
|
rs144590958
|
|
NM_000297.4(PKD2):c.2730T>C (p.Arg910=)
|
|
|
NM_000297.4(PKD2):c.2744G>A (p.Arg915His)
|
rs755957288
|
|
NM_000297.4(PKD2):c.2757T>C (p.Asp919=)
|
rs1199134875
|
|
NM_000297.4(PKD2):c.2760T>C (p.Asp920=)
|
|
|
NM_000297.4(PKD2):c.2770C>T (p.Gln924Ter)
|
|
|
NM_000297.4(PKD2):c.2773A>T (p.Ile925Phe)
|
rs888130252
|
|
NM_000297.4(PKD2):c.2793G>A (p.Thr931=)
|
|
|
NM_000297.4(PKD2):c.2803C>T (p.Leu935=)
|
rs957416019
|
|
NM_000297.4(PKD2):c.2807del (p.Asn936fs)
|
rs1721203306
|
|
NM_000297.4(PKD2):c.2814del (p.Gln938fs)
|
|
|
NM_000297.4(PKD2):c.2819G>A (p.Arg940His)
|
rs756158263
|
|
NM_000297.4(PKD2):c.2828G>C (p.Ser943Thr)
|
rs2110151913
|
|
NM_000297.4(PKD2):c.2834G>A (p.Arg945His)
|
|
|
NM_000297.4(PKD2):c.2834G>T (p.Arg945Leu)
|
|
|
NM_000297.4(PKD2):c.2844del (p.Ser949fs)
|
rs1721205608
|
|
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)
|
rs749666891
|
|
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe)
|
rs749666891
|
|
NM_000297.4(PKD2):c.2850A>G (p.Gln950=)
|
|
|
NM_000297.4(PKD2):c.2855C>T (p.Thr952Ile)
|
|
|
NM_000297.4(PKD2):c.2891C>G (p.Ser964Cys)
|
|
|
NM_000297.4(PKD2):c.2902G>A (p.Val968Ile)
|
|
|
NM_000297.4(PKD2):c.595+11G>T
|
|
|
NM_000297.4(PKD2):c.595+13G>A
|
|
|
NM_000297.4(PKD2):c.595+16C>T
|
|
|
NM_000297.4(PKD2):c.595+1G>A
|
rs1578111778
|
|
NM_000297.4(PKD2):c.595+1G>C
|
rs1578111778
|
|
NM_000297.4(PKD2):c.595+2T>C
|
rs1018717398
|
|
NM_000297.4(PKD2):c.595+3A>G
|
|
|
NM_000297.4(PKD2):c.595+3A>T
|
rs1331405684
|
|
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser)
|
rs1726264964
|
|
NM_000297.4(PKD2):c.596-116del
|
rs200521275
|
|
NM_000297.4(PKD2):c.596-116dup
|
rs200521275
|
|
NM_000297.4(PKD2):c.596-12_599del
|
|
|
NM_000297.4(PKD2):c.596-1G>T
|
rs1560597874
|
|
NM_000297.4(PKD2):c.596-59A>G
|
|
|
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter)
|
rs1726673986
|
|
NM_000297.4(PKD2):c.603G>A (p.Trp201Ter)
|
rs1553924158
|
|
NM_000297.4(PKD2):c.605del (p.Gly202fs)
|
rs2110089194
|
|
NM_000297.4(PKD2):c.608C>G (p.Thr203Arg)
|
|
|
NM_000297.4(PKD2):c.608C>T (p.Thr203Ile)
|
|
|
NM_000297.4(PKD2):c.617T>C (p.Met206Thr)
|
|
|
NM_000297.4(PKD2):c.620A>G (p.Glu207Gly)
|
rs2110089221
|
|
NM_000297.4(PKD2):c.638G>A (p.Arg213Gln)
|
|
|
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)
|
rs2110089248
|
|
NM_000297.4(PKD2):c.642_643dup (p.Lys215fs)
|
rs1726676402
|
|
NM_000297.4(PKD2):c.646T>A (p.Tyr216Asn)
|
|
|
NM_000297.4(PKD2):c.654_655del (p.Ser219fs)
|
rs1578118330
|
|
NM_000297.4(PKD2):c.655A>C (p.Ser219Arg)
|
|
|
NM_000297.4(PKD2):c.655A>G (p.Ser219Gly)
|
|
|
NM_000297.4(PKD2):c.655_661del (p.Ser219fs)
|
|
|
NM_000297.4(PKD2):c.662del (p.Leu221fs)
|
rs1726677278
|
|
NM_000297.4(PKD2):c.670del (p.Leu224fs)
|
rs1553924173
|
|
NM_000297.4(PKD2):c.681C>A (p.Tyr227Ter)
|
|
|
NM_000297.4(PKD2):c.690del (p.Leu231fs)
|
|
|
NM_000297.4(PKD2):c.691dup (p.Leu231fs)
|
rs1553924174
|
|
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer)
|
rs1578118371
|
|
NM_000297.4(PKD2):c.693dup (p.Ile232fs)
|
rs1560598042
|
|
NM_000297.4(PKD2):c.696A>C (p.Ile232=)
|
|
|
NM_000297.4(PKD2):c.697G>A (p.Val233Ile)
|
rs1726679079
|
|
NM_000297.4(PKD2):c.699C>T (p.Val233=)
|
|
|
NM_000297.4(PKD2):c.705C>T (p.Cys235=)
|
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
NM_000297.4(PKD2):c.709+1G>T
|
rs398123308
|
|
NM_000297.4(PKD2):c.709+6T>G
|
rs1726679832
|
|
NM_000297.4(PKD2):c.709+9A>C
|
|
|
NM_000297.4(PKD2):c.710-10T>C
|
|
|
NM_000297.4(PKD2):c.710-1G>A
|
rs2110104725
|
|
NM_000297.4(PKD2):c.710-2A>G
|
rs2110104722
|
|
NM_000297.4(PKD2):c.710-3C>G
|
rs1727324496
|
|
NM_000297.4(PKD2):c.710-4539T>C
|
|
|
NM_000297.4(PKD2):c.710-6T>C
|
rs1578129010
|
|
NM_000297.4(PKD2):c.710-7G>A
|
|
|
NM_000297.4(PKD2):c.713C>T (p.Thr238Ile)
|
|
|
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)
|
rs780351760
|
|
NM_000297.4(PKD2):c.718G>A (p.Gly240Ser)
|
|
|
NM_000297.4(PKD2):c.721A>G (p.Met241Val)
|
|
|
NM_000297.4(PKD2):c.735T>G (p.Asn245Lys)
|
|
|
NM_000297.4(PKD2):c.740A>G (p.Tyr247Cys)
|
rs886059700
|
|
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter)
|
rs1578129049
|
|
NM_000297.4(PKD2):c.743A>G (p.Tyr248Cys)
|
|
|
NM_000297.4(PKD2):c.744C>A (p.Tyr248Ter)
|
rs1727326556
|
|
NM_000297.4(PKD2):c.749C>G (p.Thr250Ser)
|
rs1341016726
|
|
NM_000297.4(PKD2):c.750C>T (p.Thr250=)
|
|
|
NM_000297.4(PKD2):c.751C>T (p.Arg251Trp)
|
|
|
NM_000297.4(PKD2):c.753del (p.Arg251_Met252insTer)
|
rs2110104830
|
|
NM_000297.4(PKD2):c.763C>T (p.Gln255Ter)
|
|
|
NM_000297.4(PKD2):c.764A>C (p.Gln255Pro)
|
|
|
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro)
|
rs2110104859
|
|
NM_000297.4(PKD2):c.776A>C (p.Asp259Ala)
|
rs768028361
|
|
NM_000297.4(PKD2):c.779C>A (p.Thr260Asn)
|
|
|
NM_000297.4(PKD2):c.780C>T (p.Thr260=)
|
|
|
NM_000297.4(PKD2):c.781C>T (p.Pro261Ser)
|
rs886059701
|
|
NM_000297.4(PKD2):c.783dup (p.Val262fs)
|
rs2110104877
|
|
NM_000297.4(PKD2):c.813A>G (p.Lys271=)
|
|
|
NM_000297.4(PKD2):c.814A>G (p.Thr272Ala)
|
|
|
NM_000297.4(PKD2):c.816del (p.Leu273fs)
|
|
|
NM_000297.4(PKD2):c.817_818del (p.Leu273fs)
|
rs1057518969
|
|
NM_000297.4(PKD2):c.826A>G (p.Met276Val)
|
|
|
NM_000297.4(PKD2):c.832G>T (p.Asp278Tyr)
|
|
|
NM_000297.4(PKD2):c.838T>C (p.Trp280Arg)
|
rs2110104970
|
|
NM_000297.4(PKD2):c.843+1G>A
|
rs1727333593
|
|
NM_000297.4(PKD2):c.843+57T>C
|
rs17786456
|
|
NM_000297.4(PKD2):c.843G>A (p.Lys281=)
|
rs1727333486
|
|
NM_000297.4(PKD2):c.843G>C (p.Lys281Asn)
|
rs1727333486
|
|
NM_000297.4(PKD2):c.844-19A>G
|
|
|
NM_000297.4(PKD2):c.844-20G>T
|
|
|
NM_000297.4(PKD2):c.844-2A>G
|
rs1727412388
|
|
NM_000297.4(PKD2):c.844-6T>A
|
|
|
NM_000297.4(PKD2):c.844-7C>A
|
|
|
NM_000297.4(PKD2):c.847A>G (p.Thr283Ala)
|
|
|
NM_000297.4(PKD2):c.848_849dup (p.Glu284fs)
|
rs1727412539
|
|
NM_000297.4(PKD2):c.856T>A (p.Ser286Thr)
|
|
|
NM_000297.4(PKD2):c.860T>C (p.Leu287Ser)
|
rs1727413505
|
|
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter)
|
rs1727413505
|
|
NM_000297.4(PKD2):c.860_861insG (p.Leu288fs)
|
rs1727413597
|
|
NM_000297.4(PKD2):c.868G>A (p.Gly290Arg)
|
|
|
NM_000297.4(PKD2):c.872T>C (p.Leu291Pro)
|
rs1727414003
|
|
NM_000297.4(PKD2):c.875A>C (p.Tyr292Ser)
|
rs1560608538
|
|
NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys)
|
rs1560608538
|
|
NM_000297.4(PKD2):c.892A>G (p.Ser298Gly)
|
|
|
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
|
|
|
NM_000297.4(PKD2):c.911A>T (p.Asp304Val)
|
|
|
NM_000297.4(PKD2):c.915C>A (p.Asn305Lys)
|
|
|
NM_000297.4(PKD2):c.916C>G (p.Arg306Gly)
|
rs200001068
|
|
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
|
rs200001068
|
|
NM_000297.4(PKD2):c.917G>A (p.Arg306Gln)
|
|
|
NM_000297.4(PKD2):c.932A>G (p.Tyr311Cys)
|
|
|
NM_000297.4(PKD2):c.940C>T (p.Leu314=)
|
|
|
NM_000297.4(PKD2):c.950G>A (p.Gly317Glu)
|
rs2110107072
|
|
NM_000297.4(PKD2):c.952dup (p.Val318fs)
|
rs2110107069
|
|
NM_000297.4(PKD2):c.954T>C (p.Val318=)
|
rs1727418866
|
|
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
|
rs749004212
|
|
NM_000297.4(PKD2):c.965G>T (p.Arg322Leu)
|
rs145877597
|
|
NM_000297.4(PKD2):c.966G>T (p.Arg322=)
|
|
|
NM_000297.4(PKD2):c.972C>T (p.Leu324=)
|
|
|
NM_000297.4(PKD2):c.973C>G (p.Arg325Gly)
|
|
|
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)
|
rs1727420867
|
|
NM_000297.4(PKD2):c.982_984del (p.Asn328del)
|
rs1727421192
|
|
NM_000297.4(PKD2):c.986del (p.Gly329fs)
|
rs1553925459
|
|
NM_000297.4(PKD2):c.992G>A (p.Cys331Tyr)
|
rs1578130536
|
|
NM_000297.4(PKD2):c.992G>C (p.Cys331Ser)
|
rs1578130536
|
|
NM_000297.4(PKD2):c.997A>G (p.Ile333Val)
|
|
|
NM_000297.4(PKD2):c.999delinsAGA (p.Pro334fs)
|
rs1560608729
|
|