Table 2 Pathogenicity evaluation based on the POLE-score system
Mutation analysis | Results | POLE-score |
|---|---|---|
C > A over 20% | 27.5% (76) | 1 |
T > G over 4% | 3.99% (11) | 0 |
Indels below 5% | 0.36% (1) | 1 |
C > G below 0.6% | 0.36% (1) | 1 |
TMB over 100 muts/Mb | 203.8 | 1 |
Recurrent variant in EC | no | 0 |
Total POLE-score | 4 | |