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CFTR- France & CFTR-NGS catalog have retrieved 13 INSERTIONS, 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) |
|---|---|---|---|---|---|---|---|
| Intron 4 | c.489+562_489+563insAACCCA | not reported | - | - | |||
| Intron 4 | c.489+564_489+565insAGAACCTACTCTGC | not reported | - | - | |||
| Intron 9 | c.1209+2120_1209+2121insAAG | not reported | Suspicion of CF:1 | 0.001431 | - | ||
| Intron 16 | c.2657+2_2657+3insA | 2789+2insA | disease-causing | Asymptomatic:1 CFTR-RD:3 Pending:2 | - | - | |
| Exon 17 | c.2737_2738insG | 2869insG | disease-causing | CF:1 CFTR-RD:5 Pending:1 | - | - | |
| Exon 18 | c.2919_2920ins121 | disease-causing | CF:2 | - | - | ||
| Intron 18 | c.2989-1846_2989-1845insG | not reported | Asymptomatic:1 | 0.021518 | AG: 0.00 (46) AL: 0.00 (-30) DG: 0.00 (46) DL: 0.00 (23) | ||
| Intron 20 | c.3367+228_3367+229insGT | not reported | Suspicion of CF:1 | 0.000321 | - | ||
| Exon 20 | c.3191_3192insTTTTAAGCTTAAAAGG | disease-causing | Fetal bowel anomalies:1 | - | - | ||
| Intron 20 | c.3367+453_3367+454insCACAGACA | not reported | Suspicion of CF:1 | - | - | ||
| Intron 21 | c.3468+1526_3468+1527insC | not reported | Pending (NBS):1 | 0.00476 | AG: 0.00 (9) AL: 0.00 (-23) DG: 0.00 (-25) DL: 0.00 (-35) | ||
| Intron 22 | c.3718-5371_3718-5370insGCCT | not reported | - | - | |||
| Intron 23 | c.3874-3565_3874-3564insGT | not reported | Suspicion of CF:1 | 0.008796 | - |