| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1039_2271del | p.Thr347ValfsX26 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACT | Thr | del1233a | InF | Stop at 372 | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 19_10057_10057-007_10057- | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |