| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1_645dup | p.Met1_Gln215dup |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATA | Ile | ins645a | InF | In frame ins | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Connector |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 19_9040_9040-003_9040-003 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |