| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.532_729dup | p.Phe178_Glu243dup |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGG | Arg | ins198a | InF | In frame ins | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| No | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 37_P13.20-E23262 | Relative |
| Symptom |
| Reference ID | Reference |
| 37 | Unpublished data |