| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.3749_3750delAA | p.Lys1250SerfsX5 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | del2b | Fs. | Stop at 1254 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 7_-5819E041009E041009 | Relative |
| Symptom |
| Reference ID | Reference |
| 7 | Unpublished data |