Table 2. Cystic fibrosis transmembrane conductance regulator genotype according to F508del mutation group.
Patient | ||||||
F508del mutation group | CFTR mutation genotype | n | % | % per group | ||
G0 | -/- | 43 | 23.9 | 36.1 | ||
G542X/- | 5 | 2.8 | ||||
G542X/R1162X | 1 | 0.6 | ||||
G542X/I618T | 1 | 0.6 | ||||
G542X/2183A>G | 1 | 0.6 | ||||
G542X/2183AA→G | 1 | 0.6 | ||||
G542X/P205S | 1 | 0.6 | ||||
G542X/R334W | 1 | 0.6 | ||||
I507V/- | 1 | 0.6 | ||||
R334W/R1066C | 1 | 0.6 | ||||
R334W/R334W | 1 | 0.6 | ||||
3120+1G>A/3120+1G>A | 1 | 0.6 | ||||
3120+1G>A/- | 1 | 0.6 | ||||
TG11-5T/- | 1 | 0.6 | ||||
622-2A>G/711+1G>T | 1 | 0.6 | ||||
R1162X/R1162X | 1 | 0.6 | ||||
R1162X/- | 1 | 0.6 | ||||
D110H/V232H | 1 | 0.6 | ||||
G1 | F508del/- | 40 | 22.2 | 37.2 | ||
F508del/G542X | 13 | 7.2 | ||||
F508del/R1162X | 5 | 2.8 | ||||
F508del/N1303K | 4 | 2.2 | ||||
F508del/R553X | 2 | 1.1 | ||||
F508del/S4X | 1 | 0.6 | ||||
F508del/1717-1G>A | 1 | 0.6 | ||||
F508del/exon 6B-16 duplication | 1 | 0.6 | ||||
F508del/2184insA | 1 | 0.6 | ||||
G2 | F508del/F508del | 48 | 26.7 | 26.7 |
: absent F508del
: heterozygous F508del patients
: homozygous F508del patients