Table 2. Mutational signature analysis for de novo substitutions:
Breakdown of the germline and somatic variants in the FA proband and control
| Fanconi Anemia patient | Control | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Mutation type | Transition (Ti) | Transversion (Tv) | Total | Ti/Tv | Transition (Ti) | Transversion (Tv) | Total | Ti/Tv | |
| Germline | SBS | 27 | 40 | 67 | 0.68 | 22 | 13 | 35 | 1.69 |
| DBS | 0 | 0 | 0 | NA | 0 | 0 | 0 | NA | |
| CBS | 2 | 0 | 2 | NA | 0 | 0 | 0 | NA | |
| BBS | NA | NA | 0 | NA | NA | NA | 0 | NA | |
| Total | 29 | 40 | 69 | 0.73 | 22 | 13 | 35 | 1.69 | |
| Somatic | SBS | 278 | 521 | 799 | 0.53 | 4 | 3 | 7 | 1.33 |
| DBS | 6 | 12 | 18 | 0.50 | 0 | 0 | 0 | NA | |
| CBS | 1 | 23 | 24 | 0.04 | 1 | 2 | 3 | 0.50 | |
| BBS | NA | NA | 3 | NA | NA | NA | 0 | NA | |
| Total | 285 | 556 | 844 | 0.51 | 5 | 5 | 10 | 1.00 | |
BBS, Biallelic base substitution; CBS, Clustered-base substitution; DBS, Doublet-base substitution; SBS, Single-base substitution; NA, not applicable