NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter)
|
rs941713150
|
0.00001
|
NM_000297.4(PKD2):c.1039del (p.Val347fs)
|
rs1727423812
|
|
NM_000297.4(PKD2):c.1549-1G>A
|
rs1720121027
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2119-1603_2522+740del
|
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.709+1G>T
|
rs398123308
|
|
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
|
rs200001068
|
|
NM_000458.4(HNF1B):c.516C>G (p.Tyr172Ter)
|
rs764561297
|
|
NM_001009944.3(PKD1):c.10441del (p.Val3481fs)
|
rs2091884240
|
|
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs)
|
rs1555445999
|
|
NM_001009944.3(PKD1):c.12307del (p.Ala4103fs)
|
rs2091442608
|
|
NM_001009944.3(PKD1):c.1987del (p.Gln663fs)
|
rs1238458888
|
|
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)
|
rs2092538738
|
|
NM_001009944.3(PKD1):c.3441C>G (p.Tyr1147Ter)
|
rs762887911
|
|
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)
|
rs2092683596
|
|
NM_001009944.3(PKD1):c.3745del (p.Asp1249fs)
|
rs2092501574
|
|
NM_001009944.3(PKD1):c.3746del (p.Asp1249fs)
|
rs2092501540
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)
|
rs1567191179
|
|
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter)
|
rs2092401442
|
|
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter)
|
rs28369051
|
|
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter)
|
rs2092205600
|
|
NM_001009944.3(PKD1):c.8458_8459del (p.Leu2819_Ser2820insTer)
|
rs2092196755
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.9047del (p.Gln3016fs)
|
rs2092138707
|
|
NM_001009944.3(PKD1):c.9398-1G>C
|
rs1555449642
|
|
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter)
|
rs1474701377
|
|
NM_138694.4(PKHD1):c.1602+1G>A
|
rs398124476
|
|