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The CFTR-France database has retrieved 32 VARIANTS INVOLVED IN COMPLEX ALLELES, which are displayed below:
| #Exon/intron | Name | Legacy name | Classe |
|---|---|---|---|
| Intron 2 | c.[165-291_1585-8528delins39;2619+2288_2989-839delins16] | CFTRdele3-10,14b-16 | disease-causing |
| Exon 3 | c.220C>T | R74W | disease-causing |
| Exon 3 | c.221G>A | R74Q | non disease-causing |
| Exon 4 | c.443T>C | I148T | non disease-causing |
| Exon 6 | c.601G>A | V201M | disease-causing |
| Exon 6 | c.627A>G | A209A (759A/G) | VUS |
| Exon 6 | c.617T>G | L206W | disease-causing |
| Exon 8 | c.890G>A | R297Q | non disease-causing |
| Intron 9 | c.1210-34_1210-6TG[12]T[5] | TG12T5 | disease-causing |
| Intron 9 | c.1210-12T[5] | poly-T tract variations | disease-causing |
| Intron 9 | c.1210-34_1210-6TG[9]T[9] | TG9T9 | non disease-causing |
| Intron 9 | c.1210-34_1210-6TG[11]T[5] | TG11T5 | VUS |
| Intron 9 | c.1210-34_1210-6TG[13]T[5] | TG13T5 | disease-causing |
| Exon 10 | c.1327G>T | D443Y | disease-causing |
| Exon 11 | c.1399C>T | 1531C/T (L467F) | VUS |
| Exon 11 | c.1523T>G | F508C | disease-causing |
| Exon 11 | c.1521_1523del | ΔF508 | disease-causing |
| Exon 13 | c.1727G>C | G576A | non disease-causing |
| Intron 13 | c.1766+5G>A | 1898+5G>A | disease-causing |
| Exon 13 | c.1684G>A | V562I | VUS |
| Exon 14 | c.2421A>G | I807M ; 2553A/G | disease-causing |
| Exon 14 | c.2002C>T | R668C | disease-causing |
| Exon 14 | c.2260G>A | V754M | non disease-causing |
| Exon 14 | c.2173G>A | E725K | likely benign |
| Intron 18 | c.2989-313A>T | disease-causing | |
| Exon 18 | c.2930C>T | S977F | disease-causing |
| Exon 19 | c.3080T>C | I1027T | likely benign |
| Exon 19 | c.3067_3072del | 3199del6 ; 3195del6 | disease-causing |
| Exon 22 | c.3705T>G | S1235R | non disease-causing |
| Exon 23 | c.3808G>A | D1270N | disease-causing |
| Exon 23 | c.3752G>A | S1251N | disease-causing |
| Exon 25 | c.4056G>T | Q1352H(G>T) | disease-causing |