| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.208_2271del | p.Lys70ValfsX3 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | del2064a | InF | Stop at 72 | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ATPase |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 2_02-DDM3127_19588_--- | Relative |
| Symptom |
| Reference ID | Reference |
| 2 | Unpublished data |