| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1447G>T | p.Glu483X |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | TAA | Stop | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EXO1 stabilization | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 19_7894_7894-001_7894-001 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |