| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2128A>T | p.Lys710X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAA | Lys | TAA | Stop | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| R | Yes, non coding strand | No |
| Mutation(s) on the other allele: c.1210-12T[6] (1342-12T[6]) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Xmn I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-03323-00933 | Proband | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CBAVD |
| Reference ID | Reference |
| 1 | Unpublished data |