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.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)
|
rs121918040
|
0.00001
|
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter)
|
rs1276594505
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
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
|
NC_000004.11:g.88957372-?_89042944+?dup
|
|
|
NC_000004.12:g.(?_88038231)_(88075714_?)del
|
|
|
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)
|
rs2110107236
|
|
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs)
|
|
|
NM_000297.4(PKD2):c.1047dup (p.Val350fs)
|
rs1578130597
|
|
NM_000297.4(PKD2):c.1088del (p.Gly363fs)
|
rs1553925467
|
|
NM_000297.4(PKD2):c.1094+1G>C
|
rs58606740
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1095-2A>T
|
|
|
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)
|
rs121918039
|
|
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs)
|
rs2110112083
|
|
NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter)
|
rs924484889
|
|
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs)
|
rs1727648258
|
|
NM_000297.4(PKD2):c.1197del (p.Glu400fs)
|
rs2110112181
|
|
NM_000297.4(PKD2):c.1205del (p.Thr402fs)
|
rs2110112194
|
|
NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter)
|
rs121918041
|
|
NM_000297.4(PKD2):c.1320-2del
|
rs1578135823
|
|
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.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.1390C>T (p.Arg464Ter)
|
rs121918042
|
|
NM_000297.4(PKD2):c.1445del (p.Phe482fs)
|
rs1578135940
|
|
NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter)
|
rs1135401753
|
|
NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter)
|
rs1727790591
|
|
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)
|
|
|
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.1579_1580del (p.Tyr527fs)
|
rs1553926509
|
|
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter)
|
rs1720124087
|
|
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.1678_1679del (p.Asn560fs)
|
|
|
NM_000297.4(PKD2):c.1704dup (p.Val569fs)
|
rs1720128947
|
|
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.1792_1794delinsCCAAA (p.Phe598fs)
|
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
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.1925del (p.Gly642fs)
|
|
|
NM_000297.4(PKD2):c.1934_1935delinsT (p.Asn645fs)
|
rs1560621750
|
|
NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs)
|
rs2110129645
|
|
NM_000297.4(PKD2):c.1985del (p.Thr662fs)
|
rs2110129653
|
|
NM_000297.4(PKD2):c.1986del (p.Thr663fs)
|
rs1720430411
|
|
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs)
|
rs1720431219
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2019+1_2019+5del
|
rs1578142941
|
|
NM_000297.4(PKD2):c.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs)
|
|
|
NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter)
|
rs1578144873
|
|
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)
|
|
|
NM_000297.4(PKD2):c.2118+1G>C
|
rs1720594399
|
|
NM_000297.4(PKD2):c.2119-2A>G
|
rs1720752309
|
|
NM_000297.4(PKD2):c.2125del (p.His709fs)
|
rs2110137964
|
|
NM_000297.4(PKD2):c.2159del (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter)
|
rs770308463
|
|
NM_000297.4(PKD2):c.2240+1G>A
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2240+1G>C
|
rs1553927783
|
|
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.2286C>G (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2358+1G>A
|
|
|
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.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+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.2584del (p.Ala862fs)
|
rs2110150747
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.2814del (p.Gln938fs)
|
|
|
NM_000297.4(PKD2):c.2844del (p.Ser949fs)
|
rs1721205608
|
|
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.596-12_599del
|
|
|
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter)
|
rs1726673986
|
|
NM_000297.4(PKD2):c.605del (p.Gly202fs)
|
rs2110089194
|
|
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.654_655del (p.Ser219fs)
|
rs1578118330
|
|
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.693dup (p.Ile232fs)
|
rs1560598042
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
NM_000297.4(PKD2):c.710-1G>A
|
rs2110104725
|
|
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)
|
rs780351760
|
|
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.783dup (p.Val262fs)
|
rs2110104877
|
|
NM_000297.4(PKD2):c.816del (p.Leu273fs)
|
|
|
NM_000297.4(PKD2):c.817_818del (p.Leu273fs)
|
rs1057518969
|
|
NM_000297.4(PKD2):c.843+1G>A
|
rs1727333593
|
|
NM_000297.4(PKD2):c.844-2A>G
|
rs1727412388
|
|
NM_000297.4(PKD2):c.848_849dup (p.Glu284fs)
|
rs1727412539
|
|
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.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.986del (p.Gly329fs)
|
rs1553925459
|
|
NM_000297.4(PKD2):c.999delinsAGA (p.Pro334fs)
|
rs1560608729
|
|