Table 3.

Mutations of the CFTR Gene Represented in More Than 1% of CBAVD Patients

Mutation	No. of alleles	Percentage of the 364 alleles
p.F508del*†‡	87	23.90
IVS8-T5*†	62	17.03
p.[D443Y;G576A;R668C]	12	3.30
p.D1152H	12	3.30
p.R117H*†‡	11	3.02
p.L997F	11	3.02
p.G542X*†‡	9	2.47
p.L206W	7	1.92
p.M952I	6	1.65
p.R347H*	5	1.37
p.[R74W;V201M;D1270N]	5	1.37
p.R170H	4	1.10
p.F508C	4	1.10

Mutations that are part of commercial kit panels: 

^*cystic fibrosis v3 5/7/9T OLA ASR (Abbott Diagnostics), 

^†INNO-LiPA CFTR (Innogenetics), and 

^‡Elucigene CF30 (Tepnel Diagnostics).