| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.4626_4630delTAAAG | p.Lys1543IlefsX3 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCT | Pro | del5c | Fs. | Stop at 1545 | 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 |
| SO_-3374G03757G03757 | Relative |
| Symptom |
| Reference ID | Reference |
| 71 | Unpublished data |