NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)
|
rs1163700577
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_000297.4(PKD2):c.1235dup (p.Asn412fs)
|
rs1727650877
|
|
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly)
|
rs1727651995
|
|
NM_000297.4(PKD2):c.1973del (p.Pro658fs)
|
rs1720429890
|
|
NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys)
|
rs1560608538
|
|
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
|
|
|
NM_001009944.3(PKD1):c.10167+25_10167+43del
|
rs1197421698
|
|
NM_001009944.3(PKD1):c.10524del (p.Glu3509fs)
|
rs2091741402
|
|
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val)
|
rs1483214870
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
NM_001009944.3(PKD1):c.11017-25A>C
|
rs2151704874
|
|
NM_001009944.3(PKD1):c.11017-25A>G
|
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
NM_001009944.3(PKD1):c.11712+1G>C
|
rs2091571329
|
|
NM_001009944.3(PKD1):c.12004-2A>G
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs)
|
rs2091440547
|
|
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)
|
rs1555444468
|
|
NM_001009944.3(PKD1):c.12507del (p.Lys4170fs)
|
rs2091410164
|
|
NM_001009944.3(PKD1):c.1260C>G (p.Tyr420Ter)
|
rs2092661409
|
|
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
|
|
|
NM_001009944.3(PKD1):c.2096C>A (p.Ser699Ter)
|
rs774476595
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs)
|
rs2092600667
|
|
NM_001009944.3(PKD1):c.2720ACGTGGTGG[1] (p.Asp910_Val912del)
|
rs2092591934
|
|
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)
|
rs1567208088
|
|
NM_001009944.3(PKD1):c.3631G>T (p.Glu1211Ter)
|
rs2092505450
|
|
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter)
|
rs780119305
|
|
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)
|
rs2092427197
|
|
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)
|
rs1555454460
|
|
NM_001009944.3(PKD1):c.6970dup (p.Thr2324fs)
|
rs2092402238
|
|
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)
|
rs1567187445
|
|
NM_001009944.3(PKD1):c.7489+5G>A
|
rs2092337963
|
|
NM_001009944.3(PKD1):c.7743_7767dup (p.Gly2590fs)
|
rs2092322668
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.827_830del (p.Thr276fs)
|
rs2092670456
|
|
NM_001009944.3(PKD1):c.8955_8962del (p.Arg2985fs)
|
rs2092142482
|
|
NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del)
|
rs2092048798
|
|
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)
|
rs869312944
|
|
NM_001009944.3(PKD1):c.9568G>A (p.Gly3190Arg)
|
rs1060499704
|
|
NM_016306.6(DNAJB11):c.400del (p.Ile134fs)
|
rs1169192999
|
|
NM_016306.6(DNAJB11):c.430G>T (p.Glu144Ter)
|
rs1273228187
|
|
NM_138694.4(PKHD1):c.3761_3785delinsGCCCCAGATACCCGATGCGGGCGT (p.Ala1254fs)
|
rs1802122259
|
|