| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.793_2805del | p.Ala266LysfsX11 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTT | Val | del2013a | InF | Stop at 276 | InF |
| 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 |
| 37_L08.022-E_6099_65379 | Relative |
| Symptom |
| Reference ID | Reference |
| 37 | Unpublished data |