NM_000035.4(ALDOB):c.-214G>A
|
rs185972191
|
0.00678
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)
|
rs118204430
|
0.00013
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
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.379+1G>T
|
rs138121153
|
0.00004
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp)
|
rs555935217
|
0.00002
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
|
rs1270747182
|
0.00001
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
NC_000009.11:g.(104187910_104188836)_(104193180_104197990)del
|
|
|
NC_000009.11:g.(?_104188817)_(104193189_?)del
|
|
|
NC_000009.11:g.(?_104188827)_(104193169_?)del
|
|
|
NC_000009.12:g.(?_101424833)_(101437751_?)del
|
|
|
NC_000009.12:g.(?_101426493)_(101437751_?)del
|
|
|
NM_000035.4(ALDOB):c.1000-1_1006delinsTG
|
rs2118333206
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
NM_000035.4(ALDOB):c.113-1G>C
|
rs748663340
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.136del (p.Arg46fs)
|
|
|
NM_000035.4(ALDOB):c.149_155dup (p.Glu53fs)
|
rs2118362726
|
|
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr)
|
rs781023784
|
|
NM_000035.4(ALDOB):c.227dup (p.Val77fs)
|
rs2118362340
|
|
NM_000035.4(ALDOB):c.235del (p.Leu79fs)
|
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter)
|
rs761063847
|
|
NM_000035.4(ALDOB):c.271G>T (p.Gly91Ter)
|
|
|
NM_000035.4(ALDOB):c.302del (p.Lys101fs)
|
rs974582114
|
|
NM_000035.4(ALDOB):c.324+1G>A
|
rs764826805
|
|
NM_000035.4(ALDOB):c.324+2T>A
|
rs1057516379
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.325-1G>T
|
rs1402966846
|
|
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
|
rs528914024
|
|
NM_000035.4(ALDOB):c.34C>T (p.Gln12Ter)
|
rs190631679
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.360del (p.Asn120fs)
|
rs2118358565
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
NM_000035.4(ALDOB):c.403T>C (p.Cys135Arg)
|
rs2118355570
|
|
NM_000035.4(ALDOB):c.414C>A (p.Tyr138Ter)
|
|
|
NM_000035.4(ALDOB):c.427del (p.Val143fs)
|
rs2118355498
|
|
NM_000035.4(ALDOB):c.43del (p.Glu15fs)
|
rs1831209087
|
|
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.538C>T (p.Gln180Ter)
|
|
|
NM_000035.4(ALDOB):c.539del (p.Gln180fs)
|
|
|
NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del)
|
rs387906226
|
|
NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter)
|
rs868392830
|
|
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)
|
rs370793608
|
|
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)
|
rs2118366288
|
|
NM_000035.4(ALDOB):c.625-1G>A
|
rs1564077542
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
NM_000035.4(ALDOB):c.642C>A (p.Tyr214Ter)
|
|
|
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe)
|
rs1554702442
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)
|
rs118204426
|
|
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
|
|
|
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)
|
rs2118345550
|
|
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)
|
rs764701775
|
|
NM_000035.4(ALDOB):c.812T>C (p.Leu271Ser)
|
rs2118343224
|
|
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
|
rs2118342944
|
|
NM_000035.4(ALDOB):c.865_867del (p.Leu289del)
|
rs118204425
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
|
rs1249398093
|
|
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)
|
rs1057517133
|
|
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
|
|
|
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)
|
rs1172384674
|
|
NM_000035.4(ALDOB):c.999+2T>C
|
|
|