| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2051_2052delinsG | p.Lys684AsnfsX38 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAA | Gln | indels | indels | indels | indels |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| R |
| 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 |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0,85 | - | 65 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-00221-00042 | Proband | Female | Autosomal recessive |
| Phenotypic group | Disease |
| CF |
| Reference ID | Reference |
| 0 | Unpublished data |