Mutations found in the analyzed cohort of 738 Polish CF patients, sorted according to the position in the gene.

Legend: a IL19 i 17 – mutations included in the INNOLiPA tests (see below); CFMDB – non-INNOLiPA mutations present in the CTFR mutation database; novel – mutations first reported in this study; b in three chromosomes R668C with G576A in trans; c F508del, c.1585-1G>A, G542X, N1303K or c.579+3A>G; d F508del, G542X, R553X or N1303K; e not pathogenic if not in cis with c.3067-72del6 (l.n.3199del6); f not pathogenic – see explanation the text; g not pathogenic if not in cis with G1244V.
aMutations detected by two INNOLiPA_CFTR tests (legacy names): IL19 (INNOLiPA_CFTR19): F508del; G542X; N1303K; W1282X; G551D; 1717-1G>A; R553X; CFTRdele2,3(21kb); I507del; 711+1G>T; 3272-26A>G; 3905insT; R560T; 1898+1G>A; S1251N; I148T; 3199del6; 3120+1G>A; Q552X.
IL17 (INNOLiPA_CFTR17_TnUpdate): 621+1G>T; 3849+10kbC>T; 2183AA>G; 394delTT; 2789+5G>A; R1162X; 3659delC; R117H; R334W; R347P; G85E; 1078delT; A455E; 2143delT; E60X; 2184delA; 711+5G>A; polymorphism 5T/7T/9T.