| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1210-12T[6] (1342-12T[6]) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | spl-12 | Spl. | T[6] |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Mutation(s) on the other allele: c.2128A>T (p.Lys710X) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| TTTTTTTAACAGGA |
| GTTTTTTAACAGGA |
| -3.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-03323-00933 | Proband | Male |
| Phenotypic group | Disease |
| CBAVD |
| Reference ID | Reference |
| 1 | Unpublished data |