Table 3.
Gene | Variant | Tier | Pathogenicity | Effect | Allelic frequency (%) | |
| ||||||
Sample BC4 FFPE | Sample BC5 FFPE | |||||
| ||||||
EGFR | c.2125G>A, p.E709K | 2C | ü | missense | 4,81 | - |
PIK3CA | c.3073A>G, p.T1025A | 2C | ü | missense | - | 11 |
KIT | c.1737T>C, p.D579D | 4 | possibly not | missense | 4,17 | - |
| ||||||
Sample BC6 FFPE | Sample BC7 FFPE | |||||
| ||||||
PIK3CA | c.1049A>G, p.D350G | 2C | ü | missense | 4,49 | - |
| ||||||
Sample BC11 FFPE | Sample BC12 FFPE | |||||
| ||||||
EGFR | c.2508C>T, p.R836R | 4 | possibly not | synonymous | 26 | 42 |
PDGFRA | c.661C>T, p.L221F | 4 | possibly not | missense | 36 | 40 |