| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1744_8532del | p.Glu582fsX10 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | del6789a | InF | Stop at 591 | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ASEF binding domain ARM3 |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 37_P09.281007985244/88880 | Relative |
| Symptom |
| Reference ID | Reference |
| 37 | Unpublished data |