| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.2576_2584del | p.Glu859_Gln861del |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | del9b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Helix-turn-helix |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 5_2007070_20070899_AAB618 | Relative |
| Symptom |
| Reference ID | Reference |
| 5 | Unpublished data |