| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1783_1786delCTCA | p.Leu595MetfsX4 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTC | Leu | del4a | Fs. | Stop at 598 | Fr. |
| 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 |
| 14_F0880_04C324_04C324 | Relative |
| Symptom |
| Reference ID | Reference |
| 14 | Unpublished data |