| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.948delT | p.Phe316LeufsX12 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTT | Phe | del1c | Fs. | Stop at 327 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TM5 | Yes, non coding strand |
| 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): Dde I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-03003-00815 | Proband | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CF |
| Reference ID | Reference |
| 0 | Unpublished data |