| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.131delC | p.Thr44ArgfsX20 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACG | Thr | del1b | Fs. | Stop at 63 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Mismatch binding |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 8_42913_69180_08-250111EG | Relative |
| Symptom |
| Reference ID | Reference |
| 8 | Unpublished data |