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. 2013 May-Jun;39(3):306–316. doi: 10.1590/S1806-37132013000300007

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
G0

: absent F508del

G1

: heterozygous F508del patients

G2

: homozygous F508del patients