Table 5.
Putative effect of the mutation on gene function based on LoFtool predictions
| Gene | Mutation | Intron/ Exon | Position (Chromosome) | LoFtool Score |
Mutation Effect |
|---|---|---|---|---|---|
| EGFR | G > A | Exon | Chr7 55,170,575 | 0.0455 | Probably Damaging |
| G > A | Intron | Chr7 55,170,193 | 0.0455 | Probably Damaging | |
| G > A | Intron | Chr7 55,170,210 | 0.0455 | Probably Damaging | |
| Insertion (A) | Intron | Chr7 55,170,230 | 0.0455 | Probably Damaging | |
| A > G | Exon | Chr7 55,170,332 | 0.0455 | Probably Damaging | |
| KRAS | G > A | Intron | Chr12 25,245,246 | 0.19 | Probably Damaging |
| A > C | Intron | Chr12 252,271,121 | 0.19 | Probably Damaging | |
| PIK3CA | T > A | Exon | Chr3 179,218,237 | 0.268 | Probably Damaging |
| T > A | Exon | Chr3 179,234,443 | 0.268 | Probably Damaging | |
| C > T | Intron | Chr3 179,218,425 | 0.268 | Probably Damaging | |
| T > G | Intron | Chr3 179,218,439 | 0.268 | Probably Damaging | |
| G > A | Intron | Chr3 179,218,352 | 0.268 | Probably Damaging | |
| T > A | Intron | Chr3 179,234,011 | 0.268 | Probably Damaging | |
| C > T | Exon | Chr3 179,234,223 | 0.268 | Probably Damaging | |
| T > A | Exon | Chr3 179,234,446 | 0.268 | Probably Damaging | |
| T > A | Exon | Chr3 179,234,447 | 0.268 | Probably Damaging | |
| C > T | Exon | Chr3 179,234,232 | 0.268 | Probably Damaging |