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The CFTR-NGS catalog has retrieved 20 INDELS, which are displayed below:
| #Exon/intron | Name (HGVS) | Legacy name | Class in CFTR-France | Report in CFTR-NGS | MAF (GnomAD) | Splicing prediction (SpliceAI) |
|---|---|---|---|---|---|---|
| Exon 3 | c.222_223delinsA | disease-causing | - | - | ||
| Exon 4 | c.325_327delinsG | 457TAT>G | disease-causing | - | - | |
| Exon 7 | c.755delinsGCTGGGAAGAT | disease-causing | - | - | ||
| Intron 8 | c.1116+4_1116+10delinsTATACATAGTAT | VUS | - | - | ||
| Intron 12 | c.1680-871_1680-870delATinsGA | VUS | - | - | ||
| Exon 14 | c.2051_2052delinsG | 2183AA>G | disease-causing | - | - | |
| Exon 14 | c.2145_2146delinsGT | K716X | disease-causing | - | - | |
| Exon 17 | c.2743_2745delinsA | VUS | - | - | ||
| Exon 17 | c.2805_2810delinsTCAGA | disease-causing | - | - | ||
| Exon 18 | c.2916_2917delinsAT | VUS | - | - | ||
| Exon 21 | c.3400_3401delinsGTA | 3532AC>GTA | disease-causing | - | - | |
| Exon 22 | c.3598delinsTCT | VUS | - | - | ||
| Exon 22 | c.3598_3599delinsG | disease-causing | - | - | ||
| Exon 22 | c.3599_3600delinsG | disease-causing | - | - | ||
| Exon 22 | c.3644_3645delinsAT | L1215H | VUS | - | - | |
| Intron 23 | c.3874-1_3874delinsAG | disease-causing | - | - | ||
| Exon 24 | c.3909_3914delinsTGT | 4041_4046del6insTGT | VUS | - | - | |
| Exon 25 | c.4053_4054delinsAG | VUS | - | - | ||
| Exon 25 | c.4071_4073delinsAA | disease-causing | - | - | ||
| Exon 26 | c.4242_4242+1delinsTT | 4374_4374+1GG>TT | VUS | - | - |
