| UTR 5 |
c.(?_-1)_(*1_?)del |
CFTRdele1-24 |
disease-causing |
| UTR 5 |
c.-276_53+2553del |
|
disease-causing |
| UTR 5 |
c.-6186_273+507dup |
CFTRdup1-3 |
disease-causing |
| Intron 1 |
c.54-?_164+?del |
CFTRdele2 |
disease-causing |
| Intron 1 |
c.54-1161_164+1603del |
CFTR-dele2 |
disease-causing |
| Intron 1 |
c.54-5940_273+10250del |
CFTRdele2,3 ; Del exon 2-3 |
disease-causing |
| Intron 1 |
c.54-5811_164+2186delins182 |
|
disease-causing |
| 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 |
| Intron 3 |
c.(273+1_274-1)_(1584+1_1585-1)dup |
|
disease-causing |
| Exon 6 |
c.613_870-1547del |
|
disease-causing |
| Intron 7 |
c.(869+1_870-1)_(1584+1_1585-1)del |
|
disease-causing |
| Intron 11 |
c.(1584+1_1585-1)_(1766+1_1767-1)del |
|
disease-causing |
| Intron 11 |
c.[1585-11881_2490+101dup;2490+87_2490+88insTCAAAATTTACTAAA] |
CFTRdup11_13 |
disease-causing |
| Intron 15 |
c.2620-674_3367+198del |
2752-674_3499+198del9855 |
disease-causing |
| Intron 15 |
c.2619+1355_2908+243del |
|
disease-causing |
| Intron 15 |
c.(2619+1_2620-1)_(3367+1_3368-1)del |
|
disease-causing |
| Intron 17 |
c.2908+1086_3367+260del |
CFTR-dele16-17a-17b |
disease-causing |
| Intron 17 |
c.2909-636_3367+1194delins32 |
CFTRdele16-17b |
disease-causing |
| Intron 18 |
c.2989-449_3468+644del |
|
disease-causing |
| Intron 18 |
c.2989-977_3367+248del |
3121-977_3499+248del2515 ; del 17a-17b |
disease-causing |
| Intron 18 |
c.2988+1173_3468+2111del |
Del exon 17a-17b-18 |
disease-causing |
| Intron 18 |
c.2989-1698_3469-4461del |
|
disease-causing |
| Intron 18 |
c.2989-908_3085delinsGACAG |
|
disease-causing |
| Intron 18 |
c.2988+1616_3367+356delins62 |
Del exon 17a-17b |
disease-causing |
| 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 |
| Intron 18 |
c.(2988-1_2989-1)_(3367+1_3368-1)del |
Del exon 17a-17b |
disease-causing |
| Intron 21 |
c.3469-2880_3717+2150del |
CFTRdele19 |
disease-causing |
| Intron 21 |
c.(3468+1_3469-1)_(3717+1_3718-1)del |
|
disease-causing |
| Intron 21 |
c.[3469-331_3469-295del;3469-189_3717+3822del] |
|
disease-causing |
| Intron 24 |
c.3964-78_4242+577del |
CFTRdele22,23 ; Del exon 22-23 |
disease-causing |
| Intron 24 |
c.3964-3890_*3143delinsTAACT |
Del exon 22-24 |
disease-causing |
