| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.516_523del | p.Lys172AsnfsX3 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | del8c | Fs. | Stop at 174 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Connector |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 2_02-DDM8081_29268_29268 | Relative |
| Symptom |
| Reference ID | Reference |
| 2 | Unpublished data |