| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1185_1186dup | p.Glu396GlyfsX43 | Homozygous |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | ins2b | Fs. | Stop at 438 |
| 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 |
| 37_P07.07-E602357277 | Relative |
| Symptom |
| Reference ID | Reference |
| 37 | Unpublished data |