| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1_2805dup | p.Stop935_936ins934AA |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | ins2805a | InF | Ins | InF |
| 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 |
| 19_13098_13098-001_13098- | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |