| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.3423_3434del | p.Thr1142_Arg1145del |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCT | Ser | del12c | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| ATP binding |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 19_2597025970-00225970-002 | Relative |
| Symptom |
| Reference ID | Reference |
| 19 | Unpublished data |