| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.54_273del | p.Ser18ArgfsX16 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGC | Ser | del220c | Fs. | Stop at 33 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| N tail |
| Mutation(s) on the other allele: c.1624G>T (p.Gly542X) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-01670-00356 | Proband | Female | Autosomal recessive |
| Phenotypic group | Disease |
| CF |
| Reference ID | Reference |
| 0 | Unpublished data |