Table 2. Mutations observed in 70 MDS patients.
| Gene | No. of patients with var. (%) | Total no. of variants (n=202) | Gene | No. of patients with var. (%) | Total no. of variants (n=202) | Gene | No. of patients with var. (%) | Total no. of variants (n=202) |
|---|---|---|---|---|---|---|---|---|
| ABL1 | 2 (2.9) | 2 | GCAT | 3 (4.3) | 3 | RAD21 | 1 (1.4) | 1 |
| ASXL1 | 11 (15.7) | 12 | IDH1 | 1 (1.4) | 1 | RARA | 1 (1.4) | 1 |
| BCOR | 2 (2.9) | 2 | IDH2 | 2 (2.9) | 2 | RET | 2 (2.9) | 2 |
| BCORL1 | 2 (2.9) | 2 | IRF1 | 1 (1.4) | 1 | RUNX1 | 12 (17.1) | 14 |
| CALR | 1 (1.4) | 1 | JAK1 | 1 (1.4) | 1 | SETBP1 | 4 (5.7) | 4 |
| CBLC | 1 (1.4) | 1 | JAK2 | 1 (1.4) | 1 | SF3A1 | 1 (1.4) | 1 |
| CDH23 | 1 (1.4) | 1 | KIT | 1 (1.4) | 1 | SF3B1 | 19 (27.1) | 20 |
| CDH3 | 2 (2.9) | 2 | KMT2A | 4 (5.7) | 5 | SMC1A | 2 (2.9) | 2 |
| CREBBP | 4 (5.7) | 4 | KRAS | 4 (5.7) | 4 | SMC3 | 1 (1.4) | 1 |
| CSF3R | 4 (5.7) | 4 | MECOM | 1 (1.4) | 1 | SRSF2 | 11 (15.7) | 11 |
| CSNK1A1 | 4 (5.7) | 4 | NF1 | 1 (1.4) | 1 | STAG2 | 4 (5.7) | 4 |
| CTCF | 1 (1.4) | 1 | NOTCH1 | 4 (5.7) | 4 | SUZ12 | 1 (1.4) | 1 |
| CTNNA1 | 1 (1.4) | 1 | NRAS | 1 (1.4) | 2 | TET2 | 19 (27.1) | 25 |
| CUX1 | 1 (1.4) | 1 | NTRK1 | 2 (2.9) | 2 | TIMM50 | 1 (1.4) | 1 |
| DNMT3A | 7 (10) | 7 | NUP98 | 2 (2.9) | 2 | TNFAIP3 | 2 (2.9) | 2 |
| ENG | 2 (2.9) | 2 | PBRM1 | 1 (1.4) | 1 | TP53 | 3 (4.3) | 4 |
| EP300 | 2 (2.9) | 2 | PDGFRA | 3 (4.3) | 3 | U2AF1 | 3 (4.3) | 3 |
| ETV6 | 2 (2.9) | 2 | PDGFRB | 1 (1.4) | 1 | UMODL1 | 3 (4.3) | 3 |
| EZH2 | 3 (4.3) | 3 | PHF6 | 1 (1.4) | 1 | ZRSR2 | 7 (10) | 7 |
| GATA1 | 1 (1.4) | 1 | PHLPP1 | 1 (1.4) | 1 | |||
| GATA2 | 1 (1.4) | 1 | PTPN11 | 1 (1.4) | 1 |