NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
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.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.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
NC_000004.11:g.(?_88896421)_(88979275_?)del
|
|
|
NC_000004.12:g.(?_88007714)_(88058123_?)del
|
|
|
NC_000004.12:g.(?_88007714)_(88075714_?)del
|
|
|
NC_000004.12:g.(?_88038231)_(88075714_?)del
|
|
|
NC_000016.10:g.2132490_2138215del
|
|
|
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)
|
rs2110107236
|
|
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs)
|
|
|
NM_000297.4(PKD2):c.1095-2A>T
|
|
|
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs)
|
rs2110112083
|
|
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs)
|
rs1727648258
|
|
NM_000297.4(PKD2):c.1205del (p.Thr402fs)
|
rs2110112194
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)
|
rs1391596181
|
|
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.1521G>A (p.Trp507Ter)
|
|
|
NM_000297.4(PKD2):c.152del (p.Gly51fs)
|
rs1726229033
|
|
NM_000297.4(PKD2):c.1579_1580del (p.Tyr527fs)
|
rs1553926509
|
|
NM_000297.4(PKD2):c.1678_1679del (p.Asn560fs)
|
|
|
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)
|
rs1553926905
|
|
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
|
|
|
NM_000297.4(PKD2):c.1925del (p.Gly642fs)
|
|
|
NM_000297.4(PKD2):c.1985del (p.Thr662fs)
|
rs2110129653
|
|
NM_000297.4(PKD2):c.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.203dup (p.Ala69fs)
|
rs1187336837
|
|
NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)
|
|
|
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs)
|
rs1578144898
|
|
NM_000297.4(PKD2):c.2118+1G>C
|
rs1720594399
|
|
NM_000297.4(PKD2):c.2125del (p.His709fs)
|
rs2110137964
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.2524del (p.Leu842fs)
|
rs1553928730
|
|
NM_000297.4(PKD2):c.2584del (p.Ala862fs)
|
rs2110150747
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.282del (p.Phe94fs)
|
|
|
NM_000297.4(PKD2):c.443del (p.Gly148fs)
|
rs1560592253
|
|
NM_000297.4(PKD2):c.443dup (p.His149fs)
|
|
|
NM_000297.4(PKD2):c.473del (p.Glu158fs)
|
rs1578111620
|
|
NM_000297.4(PKD2):c.514del (p.Asp172fs)
|
rs1232369409
|
|
NM_000297.4(PKD2):c.538dup (p.Leu180fs)
|
rs1371793191
|
|
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter)
|
rs1726258048
|
|
NM_000297.4(PKD2):c.595+1G>A
|
rs1578111778
|
|
NM_000297.4(PKD2):c.595+2T>C
|
rs1018717398
|
|
NM_000297.4(PKD2):c.605del (p.Gly202fs)
|
rs2110089194
|
|
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)
|
rs2110089248
|
|
NM_000297.4(PKD2):c.655_661del (p.Ser219fs)
|
|
|
NM_000297.4(PKD2):c.710-1G>A
|
rs2110104725
|
|
NM_000297.4(PKD2):c.783dup (p.Val262fs)
|
rs2110104877
|
|
NM_000297.4(PKD2):c.816del (p.Leu273fs)
|
|
|
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter)
|
rs1727413505
|
|
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
|
rs200001068
|
|
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
|
rs749004212
|
|
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)
|
rs2151726823
|
|
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)
|
rs1385274120
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])
|
rs777460677
|
|
NM_001009944.3(PKD1):c.109del (p.Cys37fs)
|
rs2151858299
|
|
NM_001009944.3(PKD1):c.11016+1G>A
|
rs2151707040
|
|
NM_001009944.3(PKD1):c.11270-1G>A
|
rs2151700092
|
|
NM_001009944.3(PKD1):c.11712+1G>C
|
rs2091571329
|
|
NM_001009944.3(PKD1):c.11713-1G>A
|
rs867092741
|
|
NM_001009944.3(PKD1):c.1232_1251dup (p.His418fs)
|
rs2092661595
|
|
NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs)
|
rs2151675632
|
|
NM_001009944.3(PKD1):c.1353dup (p.Val452fs)
|
rs2151822325
|
|
NM_001009944.3(PKD1):c.1491dup (p.Gly498fs)
|
rs2092648005
|
|
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)
|
rs750798165
|
|
NM_001009944.3(PKD1):c.176_206del (p.Leu59fs)
|
rs2092939869
|
|
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer)
|
rs2151813077
|
|
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter)
|
rs763199691
|
|
NM_001009944.3(PKD1):c.302del (p.Asn101fs)
|
rs2151826161
|
|
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter)
|
rs534630703
|
|
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter)
|
rs2151792059
|
|
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs)
|
rs2151790507
|
|
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs)
|
rs2151789316
|
|
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg)
|
rs2151788244
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter)
|
rs1054011070
|
|
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter)
|
rs755972713
|
|
NM_001009944.3(PKD1):c.6915+1G>A
|
rs2151785467
|
|
NM_001009944.3(PKD1):c.7065+2T>G
|
rs2151783529
|
|
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
|
rs2432403
|
|
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs)
|
rs2151772170
|
|
NM_001009944.3(PKD1):c.7622del (p.Pro2541fs)
|
rs1555452849
|
|
NM_001009944.3(PKD1):c.78del (p.Arg28fs)
|
rs2092941432
|
|
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs)
|
rs2151754452
|
|
NM_001009944.3(PKD1):c.8791+40_10050+3del
|
|
|
NM_001009944.3(PKD1):c.9398-2A>G
|
rs2151742515
|
|
NM_001009944.3(PKD1):c.9569-1G>C
|
rs2151741177
|
|
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs)
|
rs2151823406
|
|
NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter)
|
rs1415277933
|
|
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del)
|
rs750723025
|
|
Single allele
|
|
|