| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8080C>T | p.Arg2694X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| COOH unique region | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Dde I Lost restriction site(s): BsaJ I, Hae III |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0099 I01 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Reference ID | Reference |
| 122 | Unpublished data |