| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.8344delA | p.Thr2782LeufsX28 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACT | Thr | del1a | Fs. | Stop at 2809 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EB1 & hDLG binding domain (C-t |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| SO_-1053G03346G03346 | Relative |
| Symptom |
| Reference ID | Reference |
| 71 | Unpublished data |