| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1477dup | p.Tyr493LeufsX44 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | ins1b | Fs. | Stop at 536 |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ASEF binding domain ARM1 |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 4_20234---43209/43210 | Relative |
| Symptom |
| Reference ID | Reference |
| 4 | Unpublished data |