Table 2.
In silico evaluation of five novel mutations
| Gene | DNA change | Protein change | Mutation taster | PolyPhen-2 | SIFT | MAF (gnomAD) |
|---|---|---|---|---|---|---|
| RAF1 | c.786 T > G | p.N262K | Disease-causing | Probably damaging | Deleterious | – |
| RAF1 | c.788 T > G | p.V263G | Disease-causing | Probably damaging | Deleterious | – |
| BRAF | c.1796C > T | p.T599I | Disease-causing | Probably damaging | Deleterious | – |
| LZTR1 | c.509G > C | p.R170P | Disease-causing | Probably damaging | Deleterious | – |
| LZTR1 | c.2374 T > G | p.C792G | Disease-causing | Probably damaging | Deleterious | – |