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The CFTR-NGS catalog has retrieved 8 VARIANTS INVOLVED IN COMPLEX ALLELES, which are displayed below:
| #Exon/intron | Name (HGVS) | Legacy name | Class in CFTR-France | Report in CFTR-NGS | MAF (GnomAD) | Splicing prediction (SpliceAI) |
|---|---|---|---|---|---|---|
| Intron 1 | c.54-10943G>A | not reported | CF:2 CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | 0.002181 | AG: 0.00 (20) AL: 0.00 (1) DG: 0.00 (-26) DL: 0.00 (1) | |
| Intron 3 | c.274-5884C>T | not reported | CFTR-RD:1 Pending (NBS):1 | 0.000838 | AG: 0.00 (10) AL: 0.00 (-47) DG: 0.00 (-4) DL: 0.00 (17) | |
| Exon 4 | c.350G>A | R117H | disease-causing | CF:1 CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | 0.001591 | AG: 0.00 (21) AL: 0.00 (-7) DG: 0.00 (-8) DL: 0.05 (46) |
| Intron 10 | c.1393-1489_1393-1488delTA | not reported | CF:1 CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | 0.001614 | AG: 0.00 (31) AL: 0.00 (-9) DG: 0.00 (31) DL: 0.00 (0) | |
| Intron 11 | c.1584+1319G>A | not reported | CFTR-RD:1 Pending (NBS):1 | 0.000343 | AG: 0.00 (23) AL: 0.00 (-1) DG: 0.00 (-25) DL: 0.00 (-1) | |
| Exon 12 | c.1657C>T | R553X | disease-causing | Asymptomatic:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:1 | 0.000126 | AG: 0.00 (22) AL: 0.00 (-5) DG: 0.00 (-6) DL: 0.21 (22) |
| Intron 15 | c.2620-3342A>G | not reported | Asymptomatic:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:1 | 7.7e-05 | AG: 0.00 (-28) AL: 0.00 (-5) DG: 0.00 (-1) DL: 0.00 (-28) | |
| Exon 22 | c.3485G>T | 3617G/T | disease-causing | CFTR-RD:1 Pending (NBS):1 | 0.000663 | AG: 0.00 (30) AL: 0.01 (-16) DG: 0.00 (30) DL: 0.11 (32) |
