| Variation name (cDNA level) | Variation name (protein level) | Variation status |
| c.1277_1386del | p.Lys427GlyfsX4 |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | del110b | Fs. | Stop at 430 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EXO1 stabilization |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status |
| 2_02-ACT2215_12430_12430 | Relative |
| Symptom |
| Reference ID | Reference |
| 2 | Unpublished data |