| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.2038C>T | p.Arg680X |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ATP binding | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 19_5206_5206-002_5206-002 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |