| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.2191delG | p.Glu731LysfsX14 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | del1a | Fs. | Stop at 744 | Fr. |
| 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 |
| 19_2438224382-00124382-001 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |