TABLE 2.
Gene mutations in DIG.
| Gene | Type of mutation | Identity of mutation | Origin | |
|---|---|---|---|---|
| Nucleotide | Protein | |||
| TSC2 | Stop gain | G4681T | E1561* | Somatic |
| BRCA1 | Nonsynonymous | C2081T | S694F | Hereditary |
| MSH2 | Nonsynonymous | G641T | R214I | Hereditary |
| MSH6 | Nonsynonymous | G3611A | R1204Q | Hereditary |
| EWSR1 | Frameshift deletion | 879delC | P294Hfs*3 | Somatic |