| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1463T>A | p.Leu488X |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTG | Leu | TAG | Stop | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EXO1 stabilization | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 7_1273013332E110037 | Relative |
| Symptom |
| Reference ID | Reference |
| 7 | Unpublished data |