Table 2.
The predictions for COG1 mutations using various software
| Software | c.1070 + 3A > G (splicing) | c.2492G > A (p.Arg831Gln) |
|---|---|---|
| VarSome | Likely Benign | Uncertain significance |
| DANN | Score:0.8675 | Score:0.9912 |
| dbscSNV | ADA Score:0.001334 | N/A |
| Mutation Taster | N/A | Disease-causing |
| Mutation assessor | N/A | Medium |
| FATHMM-MKL | N/A | Damaging |
| LRT | N/A | Deleterious |
| DEOGEN2 | N/A | Tolerated |
| EIGEN | N/A | Pathogenic |
| EIGEN PC | N/A | Pathogenic |
| SIFT | N/A | Damaging |
| SIFT4G | N/A | Damaging |
c. 1070 + 3A > G, the nucleotide of 1070 + 3 in the coding region was mutated from adenine to guanine; c.2492G > A, the nucleotide of 2492 in the coding region was mutated from guanine to adenine; p.Arg831Gln, amino acid 831 changed from arginine to glutamine