| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.835_1312del | p.Gly279CysfsX16 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGT | Gly | del478a | Fs. | Stop at 294 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, coding strand |
| At the mRNA level | On restriction map |
| New restriction site(s): Hinc II Lost restriction site(s): none |
| Sample ID | Patient status |
| 19_717---717.001 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |