Table 2.
Sequence variants detected in the studied Ph-like ALL cases.
| Sample | Fusion detected | Mutations detected | Coding sequence change | Amino acid change | dbSNP138 | Allele frequency (%) | ExAC MAF (%) |
|---|---|---|---|---|---|---|---|
| A | EBF1-PDGFRB | NOTCH1 | c.G4049T | p.R1350L | rs150343794 | 45.1 | 0.07 |
| B | P2RY8-CRLF2 | – | – | – | – | – | – |
| C | RCSD1-ABL1 | – | – | – | – | – | – |
| D | RCSD1-ABL2 | NOTCH1 | c.G3788A | p.R1263H | rs377594681 | 44.4 | 0.00097 |
| PAX5 | c.T6A | p.D2E | rs139701864 | 53.2 | 0.32 |