NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00006
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
NM_000035.4(ALDOB):c.*516T>A
|
rs1402343211
|
0.00001
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
NC_000009.12:g.101435743_101435818del
|
rs2118377686
|
|
NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs)
|
rs2118332973
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
NM_000035.4(ALDOB):c.112+1G>A
|
rs2118366070
|
|
NM_000035.4(ALDOB):c.112+1del
|
rs1057516534
|
|
NM_000035.4(ALDOB):c.113-1G>A
|
rs748663340
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.146del (p.Val49fs)
|
rs2118362762
|
|
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)
|
rs370761101
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)
|
rs200585150
|
|
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)
|
rs1376128325
|
|
NM_000035.4(ALDOB):c.324+1G>A
|
rs764826805
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.325-1G>C
|
rs1402966846
|
|
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
|
rs528914024
|
|
NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)
|
rs2118358456
|
|
NM_000035.4(ALDOB):c.380-1G>A
|
rs1554702666
|
|
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)
|
rs1057516902
|
|
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
|
rs1831149748
|
|
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)
|
rs752902486
|
|
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)
|
rs2118354587
|
|
NM_000035.4(ALDOB):c.540+1G>C
|
rs2118354551
|
|
NM_000035.4(ALDOB):c.541-153_800-175del
|
|
|
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)
|
rs2118350958
|
|
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)
|
rs370793608
|
|
NM_000035.4(ALDOB):c.625-1G>A
|
rs1564077542
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
NM_000035.4(ALDOB):c.62del (p.Gln21fs)
|
rs2118366284
|
|
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)
|
rs2118346537
|
|
NM_000035.4(ALDOB):c.683_688dup (p.Leu229_Lys230insMetLeu)
|
rs1478306331
|
|
NM_000035.4(ALDOB):c.689del (p.Lys230fs)
|
rs2118346335
|
|
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)
|
rs118204426
|
|
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)
|
rs2118345550
|
|
NM_000035.4(ALDOB):c.799+2T>A
|
rs2118345193
|
|
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)
|
rs1831103567
|
|
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
|
rs2118342944
|
|
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)
|
rs2118342839
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro)
|
rs2118342191
|
|
NM_000035.4(ALDOB):c.940dup (p.Trp314fs)
|
rs1554702328
|
|
NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)
|
rs2118341777
|
|
NM_000035.4:c.-10_624del
|
|
|
NM_000035.4:c.1_624del
|
|
|