| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.4218_4251del | p.Ser1407X |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | del34c | Fs. | Stop at 1407 | 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_-502G00171G00171 | Relative |
| Symptom |
| Reference ID | Reference |
| 71 | Unpublished data |