| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7780delC | p.Gln2594ArgfsX88 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | del1a | Fs. | Stop at 2681 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #41 |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0153 I01 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Reference ID | Reference |
| 122 | Unpublished data |