| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1753_1756delTCTT | p.Ser585GlnfsX4 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCT | Ser | del4a | Fs. | Stop at 588 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Lever |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 2_02-OCN1331642498215047440 | Relative |
| Symptom |
| Reference ID | Reference |
| 2 | Unpublished data |