Table 1.
Alterations observed for Case 1 in the short list of clinically relevant genes
| Gene | Nucleotide variation | Protein variation | Origin | Impact |
| AKT1 | c.235C>A | Gln79Lys | Somatic | Activating |
| CCNE1 | c.1022C>T | Thr341Met | Somatic | Unknown |
| CHEK2 | c.478A>G | Arg117Gly | Constitutive | Likely pathogenic |
| CUL2 | c.70C>T | Pro24Ser | Somatic | Unknown |
| ERCC6 | c.4179G>A | Met1393Ile | Somatic | Unknown |
| PMS2 | c.1531A>G | Thr511Ala | Constitutive | Benign |
| SMAD4 | c.1091T>A | Leu364X | Somatic | Loss of function |
| SUFU | c.1211T>C | Met404Thr | Constitutive | Unknown |