Table I.
Mutation distribution in our patient cohort compared to Czech (5), Polish (6) and previous Hungarian (2) publications.
| HGVS nomenclature | Legacy name/effect on protein level | Hungary 2011 (N=80) | Czech Republic 2013 (N=1200) | Poland 2014 (N=1476) | This study (N=90) |
|---|---|---|---|---|---|
| c.1521_1523delCTT | F508del | 70.0% | 67.4% | 54.5% | 53.3% |
| c.3846G>A | W1282X | 0.0% | 0.6% | 0.6% | 4.4% |
| c.3909C>G | N1303K | 5.0% | 2.4% | 1.2% | 4.4% |
| c.54-5940_273+10250del21kb | CFTRdele2,3(21kb) | 5.0% | 5.8% | 4.5% | 4.4% |
| c.2052_2053insA | 2184insA | 5.0% | 0.4% | 1.0% | 4.4% |
| c.1624G>T | G542X | 3.8% | 2.0% | 1.7% | 2.2% |
| c.489+1G>T | 621+1G>T | 0.0% | 0.4% | 0.3% | 2.2% |
| c.3276C>A | Y1092X | 1.3% | 0.0% | 0.1% | 2.2% |
| c.302T>G | L101X | 2.5% | 0.0% | 0.1% | 1.1% |
| c.1397C>G | S466X | 1.3% | 0.0% | 0.1% | 1.1% |
| c.2012delT | 2143delT | 0.0% | 0.9% | 1.8% | 2.2% |
| c.53+1G>T | 185+1G>T | 0.0% | 0.2% | 0.0% | 1.1% |
| c.1394C>T | p.Thr465Ile | 0.0% | 0.0% | 0.0% | 1.1% |
| c.1037_1038insA | p.Leu346Hisfs*17 | 0.0% | 0.0% | 0.0% | 1.1% |
| c.2051_2052delAAinsG | 2183AA>G | 0.0% | 0.1% | 0.7% | 1.1% |
| c.2657+5G>A | 2789+5G>A | 0.0% | 0.5% | 0.0% | 1.1% |
| c.3717+12191C>T | 3849+10kbC>T | 0.0% | 1.7% | 3.9% | 1.1% |
| c.215C>A | A72D | 0.0% | 0.0% | 0.0% | 1.1% |
| c.3454G>C | D1152H | 0.0% | 0.0% | 0.1% | 1.1% |
| c.3731G>A | G1244E | 0.0% | 0.0% | 0.0% | 1.1% |
| c.1727G>C | G576A | 0.0% | 0.0% | 0.3% | 1.1% |
| c.3302T>A | M1101K | 0.0% | 0.0% | 0.0% | 1.1% |
| c.2591_2592delTT | 2723delTT | 0.0% | 0.0% | 0.0% | 1.1% |
| c.3822G>A | W1274X | 0.0% | 0.0% | 0.0% | 1.1% |
| c.2002C>T | R668C | 0.0% | 0.0% | 0.2% | 1.1% |
| c.325_327delTATinsG | p.Tyr109Glyfs*4 | 0.0% | 0.0% | 0.0% | 1.1% |
| c.54-5811_164+2186del273+6780_273+6961inv | CFTRdele2 | 0.0% | 0.2% | 0.0% | 1.1% |