Table 2 Characteristics of four mutations identified in our cohort
Gene | POLE | POLE | POLD1 | POLD1 |
|---|---|---|---|---|
Mutation | c.940T > G:p.314S > A | c.1403A > G:p.468Y > C | c.1120G > A:p.374E > K | c.1231C > T:p.411Q > X |
PolyPhen-2 | Benign | Probably Damaging | Probably Damaging | NA |
Mutation assessor | Medium | High | High | NA |
SIFT | Tolerated | Damaging | Damaging | Damaging |
CADD | 22.1 | 27.1 | 33 | 37 |
Mutation Taster | Disease Causing | Disease Causing | Disease Causing | Disease Causing |
Family history | NA | NA | Negative | Negative |
Conservation between species | 6 out of 6 | 6 out of 6 | 7 out of 7 | 3 out of 7 |
Age at diagnosis | 62 | 69 | 55 | 75 |
Frequency in ExAC | 0.00008245 | 0 | 0 | 0 |