Table 2.
Genes mutated only in T2‐ALL
| Gene, chr | Protein | Variant frequency in T2‐ALL (%) |
|---|---|---|
| NOTCH1‐bis, chr9 | K1488N | 20 |
| PRB4, chr12 | G164R | 20 |
| ITGAX, chr16 | D810Y | 19 |
| AQP5, chr12 | L74M | 14† |
| GRIN3B, chr19 | L824M | 14 |
| CUBN, chr10 | A2914S | 13 |
| OBSCN, chr1 | A8630E | 12 |
| SCARF2, chr22 | R147S | 12 |
| DDX3X, chrX | G11W | 12 |
| PDZD2, chr5 | L34I | 11 |
| MCM3, chr6 | A461D | 11 |
| WNT3, chr17 | R60S | 11 |
| ZIK1, chr19 | A364delinsVLYF* | 11 |
| BCOR, chrX | L1203Sfs*33 | 11 |
*stop codon, †possibly damaging, in bold: mutation present at heterozygous state in T2‐ALL and at homozygous state in AML‐M0.