| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3112_3140del | p.Glu1038ValfsX7 | Homozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | del29a | Fs. | Stop at 1044 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| KARA0043 | Proband | Male | GREECE |
| Phenotypic group | Disease |
| Reference ID | Reference |
| 1 | Unpublished data |