Table 2.
TPCH CF cohort—rare CFTR mutations with unrecorded phenotypic characterisation. Functional CFTR testing data have been extracted from the CFTR2 database [2].
| CFTR Mutation | Functional Testing CFTR Mutation 1 |
Functional Testing CFTR Mutation 2 |
Global Database Records (CFTR2) |
|---|---|---|---|
| P67L/3272-26A->G | Missense | Missense | Unknown combination |
| W1282X/I1269N | Nonsense | Missense | Unknown combination |
| F508del/V1108L (c.3322delG) * | Frame insertion/deletion | Unknown | Unknown combination |
| G542X/T1246I | Nonsense | Missense | Unknown combination |
| 1898+1G->A (1766+1G>A)/2622 + 1G->T (2490+1G>T) | Unknown | Variant to splice donor/acceptor site | Unknown combination |
| E60X/Q1291H | Nonsense | Nonsense | Unknown combination |
| G551D/D110H * | Missense | Missense | Unknown combination |
| 1249-1G>A (c.1117-5A>G)/c.1210-34(TG)12(T)5 | Variant to splice donor/acceptor site | Unknown | Unknown combination |
| V520F/1461ins4 | Missense | Insertion/deletion variant | Unknown combination |
* = these genotypes were present in two sets of pwCF.