| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.793_1076del | p.Val265IlefsX29 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTT | Val | del284a | Fs. | Stop at 293 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EXO1 stabilization | Yes, coding strand |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Fnu4H I |
| Sample ID | Patient status |
| 19_9954_9954-003_9954-003 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |