. Author manuscript; available in PMC: 2013 May 10.

Published in final edited form as: J Cyst Fibros. 2011 Mar 8;10(4):278–281. doi: 10.1016/j.jcf.2011.02.001

Table 2.

CFTR Mutations from ACMG 23 Mutation Panel in 107 CF Patients Identified via Newborn Screening Programme

CFTR Mutation^a	Proportion of Allele	Frequency of Allele (%)	Cumulative Detection (%)^b
F508del	137/214	64.02	92.52
3849+10KbC>T	6/214	2.80	92.52^c
G542X	5/214	2.34	94.39
N1303K	4/214	1.87	98.13
R117H	4/214	1.87	99.07
R553X	3/214	1.40	99.07
1717-1G>A	2/214	0.93	99.07
G551D	1/214	0.47	100
R347P	1/214	0.47	100
A455E	1/214	0.47	100
W1282X	1/214	0.47	100
621+1 G>T	1/214	0.47	100

The other 11 mutations in ACMG 23 mutation panel are G85E, 711+1 G>T, R334W, I507del, R560T, 1898+1 G>A, 2184delA, 2789+5 G>A, 3120+1 G>A, R1162X and 3659delC.

The identification of either one or two mutant alleles prompts further confirmatory evaluations, so some mutant alleles do not contribute to the detection rate when they are in compound heterozygote.

Note that 3849+10KbC>T did not contribute to the cumulative detection rate because all 6 of the patients with this allele also had a F508del mutation.