NM_000297.4(PKD2):c.844-22G>A
|
rs2725221
|
0.66782
|
NM_000297.4(PKD2):c.*1237G>A
|
rs10965
|
0.25694
|
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro)
|
rs1805044
|
0.23760
|
NM_000297.4(PKD2):c.*256C>T
|
rs2728121
|
0.13098
|
NM_000297.4(PKD2):c.420G>A (p.Gly140=)
|
rs2728118
|
0.08616
|
NM_000297.4(PKD2):c.*1030G>A
|
rs2725202
|
0.08186
|
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr)
|
rs117078377
|
0.02396
|
NM_000297.4(PKD2):c.596-16C>T
|
rs62310565
|
0.01932
|
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.*1120C>T
|
rs116540621
|
0.00805
|
NM_000297.4(PKD2):c.444C>T (p.Gly148=)
|
rs181704860
|
0.00680
|
NM_000297.4(PKD2):c.2134T>C (p.Leu712=)
|
rs73841280
|
0.00563
|
NM_000297.4(PKD2):c.570G>T (p.Ala190=)
|
rs541702320
|
0.00554
|
NM_000297.4(PKD2):c.2119-35T>C
|
rs78885971
|
0.00524
|
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
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.-26C>T
|
rs530444554
|
0.00134
|
NM_000297.4(PKD2):c.*552G>A
|
rs139787413
|
0.00123
|
NM_000297.4(PKD2):c.441G>A (p.Ala147=)
|
rs866815144
|
0.00109
|
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.-68A>G
|
rs547865163
|
0.00065
|
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.402G>A (p.Val134=)
|
rs886059696
|
0.00042
|
NM_000297.4(PKD2):c.403G>A (p.Gly135Ser)
|
rs886059697
|
0.00042
|
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.*1152T>C
|
rs367711189
|
0.00015
|
NM_000297.4(PKD2):c.2583C>T (p.Asp861=)
|
rs369520452
|
0.00014
|
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala)
|
rs200314088
|
0.00013
|
NM_000297.4(PKD2):c.9C>T (p.Asn3=)
|
rs773343245
|
0.00012
|
NM_000297.4(PKD2):c.-47G>C
|
rs770096557
|
0.00011
|
NM_000297.4(PKD2):c.1092C>T (p.Thr364=)
|
rs149257723
|
0.00011
|
NM_000297.4(PKD2):c.2523-7C>T
|
rs199528409
|
0.00011
|
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys)
|
rs150838063
|
0.00010
|
NM_000297.4(PKD2):c.356G>A (p.Arg119His)
|
rs748654180
|
0.00010
|
NM_000297.4(PKD2):c.733A>C (p.Asn245His)
|
rs200543024
|
0.00010
|
NM_000297.4(PKD2):c.2391A>C (p.Pro797=)
|
rs556777891
|
0.00009
|
NM_000297.4(PKD2):c.*1250A>G
|
rs971004998
|
0.00008
|
NM_000297.4(PKD2):c.1717-7C>T
|
rs201267638
|
0.00008
|
NM_000297.4(PKD2):c.203C>A (p.Pro68Gln)
|
rs751221093
|
0.00008
|
NM_000297.4(PKD2):c.2814A>G (p.Gln938=)
|
rs573469832
|
0.00008
|
NM_000297.4(PKD2):c.154C>A (p.Leu52Met)
|
rs886059694
|
0.00007
|
NM_000297.4(PKD2):c.2499C>T (p.Gly833=)
|
rs180709531
|
0.00007
|
NM_000297.4(PKD2):c.419G>A (p.Gly140Glu)
|
rs776779368
|
0.00007
|
NM_000297.4(PKD2):c.*744G>A
|
rs886059706
|
0.00006
|
NM_000297.4(PKD2):c.103G>A (p.Ala35Thr)
|
rs759263638
|
0.00006
|
NM_000297.4(PKD2):c.104C>A (p.Ala35Asp)
|
rs765176523
|
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.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.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.514G>T (p.Asp172Tyr)
|
rs886059698
|
0.00004
|
NM_000297.4(PKD2):c.*1654T>C
|
rs778483971
|
0.00003
|
NM_000297.4(PKD2):c.2118+19C>T
|
rs777790980
|
0.00003
|
NM_000297.4(PKD2):c.2408G>A (p.Arg803Gln)
|
rs771211716
|
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.2188C>T (p.Arg730Trp)
|
rs749112798
|
0.00002
|
NM_000297.4(PKD2):c.2314G>A (p.Glu772Lys)
|
rs774525905
|
0.00002
|
NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn)
|
rs370489860
|
0.00002
|
NM_000297.4(PKD2):c.587G>C (p.Gly196Ala)
|
rs1377684533
|
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.*351T>C
|
rs1166143834
|
0.00001
|
NM_000297.4(PKD2):c.-64C>T
|
rs886059693
|
0.00001
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
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.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.1320G>A (p.Arg440=)
|
rs886041114
|
0.00001
|
NM_000297.4(PKD2):c.1548+9G>C
|
rs376901684
|
0.00001
|
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg)
|
rs181037821
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.1931T>C (p.Ile644Thr)
|
rs137929700
|
0.00001
|
NM_000297.4(PKD2):c.199C>T (p.Pro67Ser)
|
rs1426011277
|
0.00001
|
NM_000297.4(PKD2):c.2139C>T (p.Val713=)
|
rs200707583
|
0.00001
|
NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser)
|
rs747895445
|
0.00001
|
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)
|
rs121918040
|
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.251G>A (p.Arg84Gln)
|
rs1326556150
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.2585C>T (p.Ala862Val)
|
rs767919784
|
0.00001
|
NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys)
|
rs770609334
|
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.2902G>C (p.Val968Leu)
|
rs549787080
|
0.00001
|
NM_000297.4(PKD2):c.485C>T (p.Pro162Leu)
|
rs1034653764
|
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.783C>T (p.Pro261=)
|
rs766343471
|
0.00001
|
NM_000297.4(PKD2):c.945G>A (p.Leu315=)
|
rs201789789
|
0.00001
|
NM_000297.4(PKD2):c.95G>A (p.Gly32Asp)
|
rs1393526656
|
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(chr4:88973122-88979275)
|
|
|
NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del
|
|
|
NC_000004.11:g.88957372-?_89042944+?dup
|
|
|
NC_000004.12:g.(?_88928831)_(88996847_?)del
|
|
|
NM_000297.4(PKD2):c.*1010G>A
|
rs144024108
|
|
NM_000297.4(PKD2):c.*1611T>G
|
rs886059709
|
|
NM_000297.4(PKD2):c.*1972C>G
|
rs1721278680
|
|
NM_000297.4(PKD2):c.*2000G>A
|
rs182468664
|
|
NM_000297.4(PKD2):c.*507T>G
|
rs772523897
|
|
NM_000297.4(PKD2):c.*515A>G
|
rs1721229575
|
|
NM_000297.4(PKD2):c.-82G>A
|
rs529779778
|
|
NM_000297.4(PKD2):c.-82G>C
|
rs529779778
|
|
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)
|
rs2110107236
|
|
NM_000297.4(PKD2):c.1026del (p.Glu343fs)
|
|
|
NM_000297.4(PKD2):c.1031_1032delinsTA (p.Cys344Leu)
|
|
|
NM_000297.4(PKD2):c.1047dup (p.Val350fs)
|
rs1578130597
|
|
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys)
|
rs375164861
|
|
NM_000297.4(PKD2):c.1088del (p.Gly363fs)
|
rs1553925467
|
|
NM_000297.4(PKD2):c.1094+1del
|
rs2110107353
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1095-1G>T
|
|
|
NM_000297.4(PKD2):c.109G>A (p.Gly37Ser)
|
rs1007960523
|
|
NM_000297.4(PKD2):c.110del (p.Gly37fs)
|
rs2110080128
|
|
NM_000297.4(PKD2):c.1114A>G (p.Lys372Glu)
|
rs188394492
|
|
NM_000297.4(PKD2):c.1116dup (p.Asp373fs)
|
rs2110112037
|
|
NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs)
|
rs1726227364
|
|
NM_000297.4(PKD2):c.1129A>C (p.Ser377Arg)
|
|
|
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)
|
rs121918039
|
|
NM_000297.4(PKD2):c.1146C>A (p.Ile382=)
|
rs1351905972
|
|
NM_000297.4(PKD2):c.1168G>A (p.Gly390Ser)
|
rs1578133666
|
|
NM_000297.4(PKD2):c.1181_1183del (p.Asp394_Leu395delinsVal)
|
|
|
NM_000297.4(PKD2):c.1197del (p.Glu400fs)
|
rs2110112181
|
|
NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter)
|
rs121918041
|
|
NM_000297.4(PKD2):c.1231_1239dup (p.Val413_Trp414insLysAsnVal)
|
|
|
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.1320-2del
|
rs1578135823
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1325del (p.Leu442fs)
|
rs1578135829
|
|
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg)
|
rs1727783547
|
|
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.1390C>T (p.Arg464Ter)
|
rs121918042
|
|
NM_000297.4(PKD2):c.1390del (p.Arg464fs)
|
rs1727786451
|
|
NM_000297.4(PKD2):c.1445del (p.Phe482fs)
|
rs1578135940
|
|
NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter)
|
rs1135401753
|
|
NM_000297.4(PKD2):c.1469A>T (p.Glu490Val)
|
rs1727790126
|
|
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.1492C>T (p.His498Tyr)
|
rs1553926080
|
|
NM_000297.4(PKD2):c.1496A>G (p.Lys499Arg)
|
rs1727791483
|
|
NM_000297.4(PKD2):c.1532A>T (p.Asp511Val)
|
rs121918043
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.1551del (p.Ser518fs)
|
rs776718970
|
|
NM_000297.4(PKD2):c.1573A>C (p.Asn525His)
|
rs1720121916
|
|
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.1645dup (p.Glu549fs)
|
|
|
NM_000297.4(PKD2):c.1668dup (p.Gln557fs)
|
rs1578139269
|
|
NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter)
|
rs1273223177
|
|
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu)
|
rs1720129428
|
|
NM_000297.4(PKD2):c.1716+2T>A
|
rs1720129561
|
|
NM_000297.4(PKD2):c.1737_1746delinsAACAGG (p.Phe579Leufs)
|
rs1560620277
|
|
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)
|
rs1553926905
|
|
NM_000297.4(PKD2):c.1790T>G (p.Leu597Arg)
|
|
|
NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)
|
|
|
NM_000297.4(PKD2):c.1807dup (p.Met603fs)
|
rs1578141765
|
|
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del)
|
rs1720323681
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
NM_000297.4(PKD2):c.1857del (p.Phe619fs)
|
rs1720325511
|
|
NM_000297.4(PKD2):c.189C>T (p.Ala63=)
|
rs886059695
|
|
NM_000297.4(PKD2):c.1903A>C (p.Thr635Pro)
|
rs2110129485
|
|
NM_000297.4(PKD2):c.1904C>G (p.Thr635Ser)
|
|
|
NM_000297.4(PKD2):c.1915A>T (p.Ile639Phe)
|
rs964798879
|
|
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.1967T>G (p.Leu656Trp)
|
rs138476749
|
|
NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)
|
rs1726231891
|
|
NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs)
|
rs2110129645
|
|
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.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.2020-5A>G
|
rs2110133917
|
|
NM_000297.4(PKD2):c.203dup (p.Ala69fs)
|
rs1187336837
|
|
NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs)
|
|
|
NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter)
|
rs1578144873
|
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NM_000297.4(PKD2):c.2052C>A (p.Tyr684Ter)
|
rs2110133998
|
|
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs)
|
rs1578144898
|
|
NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter)
|
|
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NM_000297.4(PKD2):c.2118+1G>C
|
rs1720594399
|
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NM_000297.4(PKD2):c.2119-2A>G
|
rs1720752309
|
|
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile)
|
rs943891159
|
|
NM_000297.4(PKD2):c.2159del (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu)
|
rs529945469
|
|
NM_000297.4(PKD2):c.2178dup (p.Glu727fs)
|
|
|
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser)
|
rs868519938
|
|
NM_000297.4(PKD2):c.2231A>G (p.Asp744Gly)
|
rs763311767
|
|
NM_000297.4(PKD2):c.2240+1G>A
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2241-2A>G
|
rs1560626499
|
|
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter)
|
rs1578147448
|
|
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.2318A>G (p.His773Arg)
|
rs748554287
|
|
NM_000297.4(PKD2):c.2351_2354del (p.Lys784fs)
|
|
|
NM_000297.4(PKD2):c.2358+1G>A
|
|
|
NM_000297.4(PKD2):c.2358+5G>A
|
rs1720774022
|
|
NM_000297.4(PKD2):c.235C>T (p.Leu79Phe)
|
rs1726235229
|
|
NM_000297.4(PKD2):c.2378_2384del (p.His793fs)
|
rs1720855394
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.2444A>G (p.Asp815Gly)
|
|
|
NM_000297.4(PKD2):c.2475_2477del (p.Arg827del)
|
|
|
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.2517del (p.Gln840fs)
|
rs2110141387
|
|
NM_000297.4(PKD2):c.2522+1G>T
|
|
|
NM_000297.4(PKD2):c.2522+1_2522+2del
|
rs1720863460
|
|
NM_000297.4(PKD2):c.2524del (p.Leu842fs)
|
rs1553928730
|
|
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.2549A>G (p.Glu850Gly)
|
rs1721172803
|
|
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.2728C>T (p.Arg910Cys)
|
rs377398357
|
|
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.2773A>T (p.Ile925Phe)
|
rs888130252
|
|
NM_000297.4(PKD2):c.2803C>T (p.Leu935=)
|
rs957416019
|
|
NM_000297.4(PKD2):c.2814del (p.Gln938fs)
|
|
|
NM_000297.4(PKD2):c.2819G>A (p.Arg940His)
|
rs756158263
|
|
NM_000297.4(PKD2):c.2844del (p.Ser949fs)
|
rs1721205608
|
|
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe)
|
rs749666891
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
NM_000297.4(PKD2):c.295G>T (p.Glu99Ter)
|
rs1578111378
|
|
NM_000297.4(PKD2):c.306_307insAGG (p.Glu102_Val103insArg)
|
rs398122932
|
|
NM_000297.4(PKD2):c.316del (p.Glu106fs)
|
|
|
NM_000297.4(PKD2):c.331G>A (p.Val111Met)
|
rs1726241184
|
|
NM_000297.4(PKD2):c.339_358dup (p.Pro120delinsArgTrpThrTer)
|
|
|
NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)
|
rs1057518797
|
|
NM_000297.4(PKD2):c.368G>A (p.Arg123Gln)
|
rs1578111487
|
|
NM_000297.4(PKD2):c.386C>G (p.Ser129Trp)
|
|
|
NM_000297.4(PKD2):c.405del (p.Ala136fs)
|
rs1726245372
|
|
NM_000297.4(PKD2):c.41del (p.Asp14fs)
|
rs1474473957
|
|
NM_000297.4(PKD2):c.481_502del (p.Gly161fs)
|
rs1553923513
|
|
NM_000297.4(PKD2):c.544G>C (p.Gly182Arg)
|
rs886059699
|
|
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter)
|
rs1163840810
|
|
NM_000297.4(PKD2):c.595+1G>C
|
rs1578111778
|
|
NM_000297.4(PKD2):c.595+3A>T
|
rs1331405684
|
|
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser)
|
rs1726264964
|
|
NM_000297.4(PKD2):c.596-12_599del
|
|
|
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter)
|
rs1726673986
|
|
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)
|
rs2110089248
|
|
NM_000297.4(PKD2):c.654_655del (p.Ser219fs)
|
rs1578118330
|
|
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.697G>A (p.Val233Ile)
|
rs1726679079
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)
|
rs780351760
|
|
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.744C>A (p.Tyr248Ter)
|
rs1727326556
|
|
NM_000297.4(PKD2):c.753del (p.Arg251_Met252insTer)
|
rs2110104830
|
|
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.781C>T (p.Pro261Ser)
|
rs886059701
|
|
NM_000297.4(PKD2):c.783dup (p.Val262fs)
|
rs2110104877
|
|
NM_000297.4(PKD2):c.817_818del (p.Leu273fs)
|
rs1057518969
|
|
NM_000297.4(PKD2):c.843+1G>A
|
rs1727333593
|
|
NM_000297.4(PKD2):c.872T>C (p.Leu291Pro)
|
rs1727414003
|
|
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
|
|
|
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.952dup (p.Val318fs)
|
rs2110107069
|
|
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
|
rs749004212
|
|
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.999delinsAGA (p.Pro334fs)
|
rs1560608729
|
|