Skip to main content
. 2020 Mar;20(1):444–452. doi: 10.4314/ahs.v20i1.51

Table 1.

Genetic analysis data in the study population

CFTR gene mutation Homozygous Heterozygous No. of patients
Phe508del 46 12 58
E1104X 10 5 15
G542X 3 5 8
N1303K 4 2 6
711 + 1G > T 2 2 4
W1282X 2 1 3
4268 + 2T > G 2 0 2
G85E 1 1 2
1524 + 5 InsC 0 2 2
R764X 1 0 1
R1158X 1 0 1
I1203V 1 0 1
1677delTA 1 0 1
del ex1,et 2 0 1 1
R785X 0 1 1
R1066C 0 1 1
3729 delA insTCT 0 1 1
Unknown - - 28