Table 1.
BCFR2013-patients, according to their mutations
| MUTATION 1 | MUTATION 2 | |||||||
|---|---|---|---|---|---|---|---|---|
| In CFTR2 | Not in CFTR2 | Not identified | Total | |||||
| CF-causing | Non CF causing | VCC | CFTR1 | Non-CFTR1 | ||||
| In CFTR2 | CF-causing | 995 | 8 | 49 | 51 | 20 | 34 | 1157 |
| Non CF causing | - | 1 | - | - | - | - | 1 | |
| VCC | - | - | 3 | - | - | - | 3 | |
| Not in CFTR2 | CFTR1 | - | - | - | 2 | - | 2 a | 4 |
| Non-CFTR1 | - | - | - | 3 | 1 | - | 4 | |
| Not identified | - | - | - | - | - | 14 | 14 | |
| Total | 995 | 9 | 52 | 56 | 21 | 50 | 1183 | |
2 patients, carrying 1 RM and 1 ‘not identified’ mutation are excluded from analysis (a)
Bold: mutations not reported in CFTR2, subsequently defined as a RM