Table 2 Driver and nondriver mutations in aplastic anemia and myeloid neoplasms.
Interpretation | Patient/Age | Disease | VAF | Gene | Functional consequence | Amino acid change | Sample |
---|---|---|---|---|---|---|---|
Driver mutations | PR-17–25/72 y | Aplastic anemia | 0.1105 | ASXL1 | Frameshift | p.P808fs | PBMCs |
PR-17–2/82 y | MDS-MLD | 0.07735 | U2AF1 | SNV | p.S34F | WB | |
PR-17–39/NA | MDS-MLD | 0.49555 | SRSF2 | SNV | p.P95L | WB | |
0.0864 | CBL | SNV | p.L380P | ||||
0.1591 | GNAS | SNV | p.R201H | ||||
PR-17–40/NA | MDS-MLD | 0.3232 | U2AF1 | SNV | p.Q157R | WB | |
PR-17–41/NA | AML-MRC | 0.04445 | ZRSR2 | Stopgain | p.K106X | WB | |
PR-18–77/70 y | MPN/MDS | 0.0324 | ASXL1 | Frameshift | p.G642fs | WB | |
PR-18–78/73 y | MDS-SLD | 0.7453 | EZH2 | SNV | p.D659G | WB | |
PR19-95/80 y | MDS-EB2 | 0.4073 | SF3B1 | SNV | p.K700E | WB | |
0.40385 | RUNX1 | Stopgain | p.R201X | ||||
0.3342 | PTPN11 | SNV | p.N58Y | ||||
MDS-L2007 | Cell line | 0.67895 | CEBPA | Stopgain | p.Q311X | Cell line | |
0.6548 | NRAS | SNV | p.G12A | ||||
0.9569 | TP53 | Splicing | c.672+1G>A | ||||
Potential driver mutations | PR-18–77/70 y | MPN/MDS | 0.74965 | CUX1 | Frameshift | p.R254fs | WB |
PR-18–78/73 y | MDS-SLD | 0.0345 | BCOR | Frameshift | p.E1182fs | WB | |
Nondriver mutations | PR-18–70/NA | MDS-EB1 | 0.04745 | NOTCH1 | SNV | p.L1531M | WB |