Table II.
Allele frequencies and mutation detection rates in the combined mutational database. Novel mutations are in bold.
| Exon/intron | HGVS nomenclature | Legacy name/effect on protein level | No. of alleles (N=170) | Frequency of alleles | Mutation in trans | Proportion of detected mutations |
|---|---|---|---|---|---|---|
| e11 | c.1521_1523delCTT | F508del | 104 | 61.2% | various CF mutations | Elucigene CF29v.2 75.9% |
| e23 | c.3846G>A | W1282X | 4 | 2.4% | F508del, 2184insA, W1282 | |
| e24 | c.3909C>G | N1303K | 8 | 4.7% | various CF mutations | |
| e12 | c.1624G>T | G542X | 5 | 2.9% | various CF mutations | |
| i11 | c.1585-1G>A | 1717-1G>A | 1 | 0.6% | F508del | |
| e8 | c.1040G>C | R347P | 1 | 0.6% | G542X | |
| e14 | c.2051_2052delAAinsG | 2183AA>G | 1 | 0.6% | D1152H | |
| i16 | c.2657+5G>A | 2789+5G>A | 1 | 0.6% | 621+1G>T | |
| i4 | c.489+1G>T | 621+1G>T | 2 | 1.2% | F508del, 2789+5G>A | |
| e21 | c.3454G>C | D1152H | 1 | 0.6% | 2183AA>G | |
| i22 | c.3717+12191C>T | 3849+10kbC>T | 1 | 0.6% | F508del | |
| i1-i3 | c.54-5940_273+ 10250del21kb | CFTRdele2,3(21kb) | 8 | 4.7% | F508del, N1303K, Y109G | “Slavic PCR” 4.7% |
| e14 | c.2052_2053insA | 2184insA | 8 | 4.7% | F508del, G542X, W1282 | Sequencing of e14 6.5% |
| e14 | c.2012delT | 2143delT | 2 | 1.2% | F508del | |
| e14 | c.2002C>T | R668C | 1 | 0.6% | G576A | |
| e20 | c.3276C>A | Y1092X | 3 | 1.8% | F508del | Sequencing of the entire coding region 11.8% |
| e4 | c.302T>G | L101X | 3 | 1.8% | F508del, 2723delTT | |
| e11 | c.1397C>G | S466X | 2 | 1.2% | F508del | |
| i1 | c.53+1G>T | 185+1G>T | 1 | 0.6% | N1303K | |
| e11 | c.1394C>T | p.Thr465Ile | 1 | 0.6% | F508del | |
| e8 | c.1037_1038insA | p.Leu346Hisfs*17 | 1 | 0.6% | F508del | |
| e3 | c.215C>A | A72D | 1 | 0.6% | N1303K | |
| e15 | c.2491G>T | E831X | 1 | 0.6% | N1303K | |
| e6 | c.658C>T | Q220X | 1 | 0.6% | F508del | |
| e23 | c.3731G>A | G1244E | 1 | 0.6% | F508del | |
| e13 | c.1727G>C | G576A | 1 | 0.6% | R668C | |
| e20 | c.3302T>A | M1101K | 1 | 0.6% | F508del | |
| e15 | c.2591_2592delTT | 2723delTT | 1 | 0.6% | L101X | |
| e23 | c.3822G>A | W1274X | 1 | 0.6% | F508del | |
| e4 | c.325_327delTATinsG | p.Tyr109Glyfs*4 | 1 | 0.6% | CFTRdele2,3(21kb) | |
| i1-i2 | c.54-5811_164+2186del273 +6780_273+6961inv | CFTRdele2 | 1 | 0.6% | F508del | MLPA 0.6% |