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CFTR- France & CFTR-NGS catalog have retrieved 33 LARGE REARRANGEMENTS, 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) |
|---|---|---|---|---|---|---|---|
| UTR 5 | c.(?_-1)_(*1_?)del | CFTRdele1-24 | disease-causing | CF:1 CFTR-RD:1 Pending:1 | - | - | |
| UTR 5 | c.-276_53+2553del | disease-causing | CF:1 CFTR-RD:1 | - | - | ||
| UTR 5 | c.-6186_273+507dup | CFTRdup1-3 | disease-causing | CF:2 | - | - | |
| Intron 1 | c.54-?_164+?del | CFTRdele2 | disease-causing | - | - | ||
| Intron 1 | c.54-1161_164+1603del | CFTR-dele2 | disease-causing | CF:1 | - | - | |
| Intron 1 | c.54-5940_273+10250del | CFTRdele2,3 ; Del exon 2-3 | disease-causing | CF:7 CFTR-RD:3 | - | - | |
| Intron 1 | c.54-5811_164+2186delins182 | disease-causing | CF:8 CFTR-RD:1 | - | - | ||
| Intron 1 | c.54-5813_164+2188del8112ins186 | disease-causing | - | - | |||
| Intron 2 | c.[165-291_1585-8528delins39;2619+2288_2989-839delins16] | CFTRdele3-10,14b-16 | disease-causing | CF:5 CFTR-RD:2 | - | - | |
| Intron 3 | c.(273+1_274-1)_(1584+1_1585-1)dup | disease-causing | CF:1 | - | - | ||
| Exon 6 | c.613_870-1547del | disease-causing | Fetal bowel anomalies:1 | - | - | ||
| Intron 7 | c.(869+1_870-1)_(1584+1_1585-1)del | disease-causing | CF:1 | - | - | ||
| Intron 11 | c.(1584+1_1585-1)_(1766+1_1767-1)del | disease-causing | CF:1 | - | - | ||
| Intron 11 | c.[1585-11881_2490+101dup;2490+87_2490+88insTCAAAATTTACTAAA] | CFTRdup11_13 | disease-causing | CFTR-RD:1 | - | - | |
| Intron 15 | c.2620-674_3367+198del | 2752-674_3499+198del9855 | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Intron 15 | c.2619+1355_2908+243del | disease-causing | CF:1 | - | - | ||
| Intron 15 | c.(2619+1_2620-1)_(3367+1_3368-1)del | disease-causing | Pending:1 | - | - | ||
| Intron 17 | c.2908+1086_3367+260del | CFTR-dele16-17a-17b | disease-causing | CF:1 | - | - | |
| Intron 17 | c.2909-636_3367+1194delins32 | CFTRdele16-17b | disease-causing | CF:1 | - | - | |
| Intron 18 | c.2989-449_3468+644del | disease-causing | CF:4 | - | - | ||
| Intron 18 | c.2989-977_3367+248del | 3121-977_3499+248del2515 ; del 17a-17b | disease-causing | CF:2 | - | - | |
| Intron 18 | c.2988+1173_3468+2111del | Del exon 17a-17b-18 | disease-causing | CF:5 CFTR-RD:2 Ultrasound signs of fetal anomalies:1 | - | - | |
| Intron 18 | c.2989-1698_3469-4461del | disease-causing | Pending:1 | - | - | ||
| Intron 18 | c.2989-908_3085delinsGACAG | disease-causing | CF:1 | - | - | ||
| Intron 18 | c.2988+1616_3367+356delins62 | Del exon 17a-17b | disease-causing | CF:2 | - | - | |
| Intron 18 | c.2988+1616_3367+356del3796ins62 | disease-causing | - | - | |||
| Intron 18 | c.(2988+1_2989-1)_(3468+1_3469-1)del | Del exon 17a-17b-18 | disease-causing | CF:1 Pending:1 | - | - | |
| Intron 18 | c.(2988-1_2989-1)_(3367+1_3368-1)del | Del exon 17a-17b | disease-causing | CF:2 | - | - | |
| Intron 21 | c.3469-2880_3717+2150del | CFTRdele19 | disease-causing | - | - | ||
| Intron 21 | c.(3468+1_3469-1)_(3717+1_3718-1)del | VUS | CF:1 | - | - | ||
| Intron 21 | c.[3469-331_3469-295del;3469-189_3717+3822del] | disease-causing | CF:1 | - | - | ||
| Intron 24 | Del exon 22-24 | disease-causing | CFTR-RD:1 | - | - | ||
| Intron 24 | c.3964-78_4242+577del | CFTRdele22,23 ; Del exon 22-23 | disease-causing | CF:2 CFTR-RD:1 | - | - |