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Table 3 List of 60 mutations in the cystic fibrosis transmembrane regulator gene (specificity 100%)

From: Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study

F508del I507del F508C 621+1G>T D110H E585X G1349D
I502T 1706del17 1677delTA R117H H139R 1898+1G>A 4015delA
G542X 1717-1G>A Q552X 852del22 G178R 1898+3A>G  
G551D S549R(A>C) 2183AA>G T338I 991del5 1898+5G>T  
N1303K 4016insT 3849+10kb C>T R347P R334W 2184insA  
G85E 711+5G>A 711+1G>T 1259insA R347H 2522insC  
2789+5G>A W1282X G1244E R1066H R352Q 3120+1G>A  
I148T 3199del6 S912X R1158X 1717-8G>A R1066C  
R1162X 4382delA D1152H L1077P D579G 3272-26A>G  
L1065P R553X PoliT: 5T, 7T, 9T 1874insT 3659delC