| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.546_677del | p.Tyr183_Arg226del |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGG | Arg | del132c | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| HhH & pseudo-HhH |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 2_DDM118142136215019468 | Relative |
| Symptom |
| Reference ID | Reference |
| 2 | Unpublished data |