| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1848_1848+1delinsTT | p.Thr518AlafsX2 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTG | Leu | indels | indels | indels | indels |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ASEF binding domain ARM4 |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.94 | - | 65 (Probably pathogenous) |
| Sample ID | Patient status |
| 19_10879---10879.001 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |