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. 2010 Jul 26;12(6):819–826. doi: 10.1038/aja.2010.58

Table 2. Mutations that were analysed by the different INNO-LiPA CFTR kits.

INNO-LiPA CFTR19 INNO-LiPA CFTR17 INNO-LiPA CFTR Italian regional
[delta]F508 621+1G>T 1259insA
G542X 3849+10kbC>T 4016insT
N1303K 2183AA>G 4382delA
W1282X 394delTT 852del22
G551D 2789+5G>A R1162X D579G
1717-1G>A 3659delC G1244E
R553X R117H G1349D
CFTRdele2,3 (21 kb) R334W I502T
[delta]I507 R347P L1065P
711+1G>T G85E R1158X
3272-26A>G 3905insT 1078delT T338I
R560T A455E S549R(A>C)
1898+1G>A S1251N 2143delA 711+5G>A 991del5
I148T E60X D1152H
3199del6 3120+1G>A 2184delA 1898+3A>G, R1070Q
Q552X Poli-T tract variations R1066H
    R347H
    621+3A>G
    R334Q
    E217G

Abbreviation: CFTR, cystic fibrosis transmembrane conductance regulator.