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CFTR- France & CFTR-NGS catalog have retrieved 10 INFRAMES, which are displayed below:
| #Exon/intron | Name (HGVS) | Legacy name | Class in CFTR-France | Report in CFTR-NGS | Report in CFTR-France | MAF (GnomAD) | Splicing prediction (SpliceAI) |
|---|---|---|---|---|---|---|---|
| Exon 8 | c.935_937del | ΔF311 | disease-causing | CFTR-RD:2 Pending:1 | - | - | |
| Exon 8 | c.1008_1019dup | 1151ins12 | disease-causing | CF:1 | - | - | |
| Exon 11 | c.1519_1521del | ΔI507 | disease-causing | Asymptomatic:2 CF:40 CFTR-RD:7 Pending:1 | - | - | |
| Exon 11 | c.1521_1523del | ΔF508 | disease-causing | Asymptomatic:6 CF:11 CFTR-RD:8 Pending (NBS):13 Suspicion of CF:11 | Asymptomatic:65 CF:2604 CFTR-RD:842 Fetal bowel anomalies:56 Pending:215 Ultrasound signs of fetal anomalies:1 | 0.00796 | AG: 0.00 (-39) AL: 0.01 (29) DG: 0.00 (-39) DL: 0.00 (-10) |
| Exon 14 | c.1820_1903del | 1949del84 | disease-causing | CF:4 CFTR-RD:1 | - | - | |
| Exon 19 | c.3064_3117del | 3196del54 | disease-causing | CF:1 | - | - | |
| Exon 19 | c.3067_3072del | 3199del6 ; 3195del6 | disease-causing | Asymptomatic:1 CF:9 CFTR-RD:2 Pending:1 | - | - | |
| Exon 21 | c.3371_3373del | E1123del | VUS | CFTR-RD:1 Pending:1 | - | - | |
| Exon 21 | c.3419_3421del | ΔM1140 | disease-causing | - | - | ||
| Exon 24 | c.3909_3914delinsTGT | 4041_4046del6insTGT | VUS | CFTR-RD:1 | - | - |