Table 4. Distribution of the most frequent CFTR mutations detected in CF patients from Poland, compared with Central and Southeastern European populations.
| Mutationsa | Poland | Czechs | Slovakiac | Germany | Lithuania | W. Ukraine | E. Hungary | Romaniac | Bulgaria | Serbia | Greece |
| Number of chromosomes | 1476 | 1200 | 856 | 700 | 98 | 264 | 80 | 256 | 208 | 352 | 874 |
| F508del | 54.54b | 67.42d | 66.80d | 72.00d | 52.0 | 54.17 | 70.00 | 56.3 | 65.38d | 72.28d | 53.40 |
| exon2,3del21kb (l.n.CFTRdele2,3_21kb) | 4.47 | 5.75 | 2.26 | 1.2f | 2.0 | 4.17 | 5.00 | 1.6 | NA | 0e | 0.34e |
| c.3717+12191C>T (l.n.3849+10kbC>T) | 3.93 | 1.67e | 4.28 | 1.00e | NA | 0.76 | 0 | 0.4e | 1.44 | 0e | 0.11e |
| c.2012delT (l.n.2143delT) | 1.83 | 0.92 | 1.10 | 0.71 | 0 | 1.14 | 0 | 0e | 0 | 0e | 0e |
| c.1585-1G>A (l.n.1717-1G>A) | 1.83 | 0.33e | NA | 0.86 | 0 | 0.38 | 1.25 | 0.4 | 0 | 0e | 0e |
| G542X | 1.69 | 2.00 | 4.06d | 1.43 | 0 | 2.65 | 3.75 | 3.9 | 3.37 | 2.57 | 3.90d |
| R347P | 1.57 | 0.92 | 1.10 | 1.57 | 0 | 0 | 1.25 | NA | 1.44 | 0 e | 0.11e |
| N1303K | 1.22 | 2.42 | 2.03 | 2.29 | 2.0 | 4.92d | 5.00 | 0.8 | 6.73d | 0 | 2.63 |
| c.2052-2053insA (l.n.2184insA) | 1.02 | 0.42 | 1.58 | 0.57 | 0 | 7.20d | 5.00d | 0 | 0.48 | 0.28 | 0e |
| R553X | 0.95 | 0.50 | 0.90 | 2.29 | 4.2d | 0.38 | 0 | NA | 0 | 0 | 0 |
| c.3468+2−3insT (l.n.3600+2insT) | 0.75 | 0.25 | NA | 0e | 0 | NA | 0 | NA | 0 | 0 | 0e |
| c.2051–2052AA>G (l.n.2183AA>G) | 0.68 | 0.08 | NA | 0.57 | 0 | 0.38 | 0 | 0.8 | 0 | 0 | 1.38 |
| W1282X | 0.61 | 0.58 | 0.50 | 0.71 | 1.0 | 2.27 | 0 | 2.3d | 0.96 | 0 | 0.67 |
| c.3140-26A>G (l.n.3272-26A>G) | 0.61 | 0.67 | 0.50 | 0.86 | 0 | 0.76 | 0 | 0.4 | 0 | 0 | 0.81 |
| l.n.IVS8 T5_TG12–13 | 0.54 | NA | NA | NA | 0 | NA | NA | NA | NA | 0 | NA |
| R334W | 0.41 | 0.25 | NA | 0.29 | 0 | 0.76 | 0 | 0.4 | 0 | 0.28 | 0.81 |
| c.1766+1G>A (l.n.1898+1G>A) | 0.41 | 1.42d | 0.50 | 0 | 0 | 1.14 | 0 | NA | 0 | 0 | 0.11 |
| c.489+1G>T (l.n.621+1G>T) | 0.34 | 0.42 | NA | 0.14 | 0 | 0.76 | 0 | 0.8 | 0 | 2.86d | 5.72d |
| R117H | 0.34 | NA | NA | 0.29 | 0 | 0 | 0 | 0.4 | 0 | 0 | 0.23 |
| G551D | 0.34 | 2.91d | 0.50 | 1.00 | 0 | 0 | 0 | 0 | 0 | 0 | 0.34 |
| G314R | 0.37 | 0 | NA | 0 | 0 | 0 | 0 | NA | 0 | 0 | 0 |
| R668C | 0.34 | 0 | NA | 0 | 0 | 0 | 0 | NA | 0 | 0 | 0 |
| c.3528delC (l.n.3659delC) | 0.27 | 0.17 | NA | 0.57 | 0 | 0 | 0 | NA | 0 | 0 | 0 |
| c.164+1G>A (l.n.296+1G>A) | 0.20 | 0.08 | NA | 0 | 0 | 0 | 0 | NA | 0 | 0 | 0 |
| R851X | 0.20 | 0.08 | NA | 0 | 0 | 0 | 0 | NA | 0 | 0 | 0 |
| I336K | 0.14 | 0.58 | NA | 0.45 | 0 | 0 | 0 | NA | 0 | 0 | 0 |
| R1158X | 0.14 | 0.08 | NA | 0 | 0 | 0 | 0 | NA | 0 | 0 | 1.03 |
| E92K | 0.14 | 0.08 | NA | 0 | 0 | 0.38 | 0 | NA | 0 | 0 | 0 |
| R153I | 0.14 | 0 | NA | 0 | 0 | 0 | 0 | NA | 0 | 0 | 0 |
| c.579+3A>G (l.n.711+3A>G) | 0.14 | 0.17 | NA | 0 | 0 | 0 | 0 | NA | 0 | 0 | 0.69 |
| c.2589–2599del11bp (l.n.2721-31del11bp) | 0.14 | 0.08 | NA | 0 | 0 | 0.38 | 0 | NA | 0 | 0 | 0 |
| I507del | 0.14 | 0.08 | NA | 0.15 | 0 | 0 | 0 | 0 | 0 | 0.28 | 0.69 |
| R117C | 0.14 | 0.08 | NA | 0.15 | 0 | 0 | 0 | NA | 0 | 0 | 0.23 |
| F311L | 0.14 | 0 | NA | 0 | 0 | 0 | 0 | NA | 0 | 0 | 0 |
| Q1412X | 0.14 | 0 | NA | 0 | 0 | 0 | 0 | NA | 0 | 0 | 0 |
| Other reported | 1.52 | 8.51 | NA | 7.10 | 2.0 | 1.14 | 7.50 | 3.8 | 12,03 | 4.28 | 17.83 |
| Not detected | 17.5 | 0.50 | 13.89 | 4.57 | 35.8 | 16.29 | 6.25 | 27.7 | 8.17 | 17.43 | 9.15 |
| Estimated efficiency of INNOLiPA tests | 75.5 | 89.9 | 84.0 | 88.7 | 61.2 | 74.6 | 87.5 | 69.1 | 80.3 | 78.7 | 73.3 |
Legend: Data are given in %. a non-INNOLiPA mutations are in bold, and a novel mutation is underlined; b very close to the earlier estimate of 54% based on a much smaller study group of PL patients [7]; c only selected segments of the gene have been screened; d frequency significantly higher or e lower than in Polish cohort (p<0.005, Pearsons’s chi square); f [5]; NA– not analyzed/not available; Poland (mostly Southern and Western Poland; this study); Czech Republic [21]; Slovakia (based on [21]); Germany [22]; Lithuania [23]; Western Ukraine [24]; East Hungary [25]; Romania [26]; Bulgaria [27]; Serbia [28]; Greece [29].