NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)
|
rs143396225
|
0.00032
|
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys)
|
rs540634317
|
0.00014
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys)
|
rs377144001
|
0.00004
|
NM_003361.4(UMOD):c.1919A>G (p.Gln640Arg)
|
rs776685236
|
0.00002
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NC_000001.10:g.(155160963_155162030)delinsAT
|
|
|
NC_000001.10:g.(155160963_155162030)dupGCCGGCCCCGGGTCC
|
|
|
NC_000001.10:g.(155160963_155162030)insC
|
|
|
NC_000001.10:g.(155160963_155162030)insG
|
|
|
NM_000297.4(PKD2):c.368G>A (p.Arg123Gln)
|
rs1578111487
|
|
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs)
|
rs724159823
|
|
NM_001009944.3(PKD1):c.1278GGC[1] (p.Ala428del)
|
rs724159824
|
|
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs)
|
rs1555462463
|
|
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu)
|
rs724159822
|
|
NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs)
|
rs796053523
|
|
NM_002335.4(LRP5):c.3468G>C (p.Gln1156His)
|
rs724159825
|
|
NM_002456.6(MUC1):c.253C>T (p.Gln85Ter)
|
rs773704188
|
|
NM_003361.4(UMOD):c.148T>A (p.Cys50Ser)
|
rs2141677149
|
|
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
|
rs878855325
|
|
NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr)
|
rs2141676232
|
|
NM_003361.4(UMOD):c.503T>C (p.Leu168Pro)
|
rs2141675428
|
|
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)
|
rs1555487528
|
|
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp)
|
rs886043751
|
|
NM_003361.4(UMOD):c.800G>T (p.Cys267Phe)
|
rs2141674031
|
|
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys)
|
rs781101544
|
|
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg)
|
rs1554217772
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|