| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.804dup | p.Ser269IlefsX15 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCA | Ser | ins1a | Fs. | Stop at 283 |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EXO1 stabilization |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 2_02-ACT2063_1706_1706 | Relative |
| Symptom |
| Reference ID | Reference |
| 2 | Unpublished data |