The CFTR-France database has retrieved 105 DELETIONS, which are displayed below:
#Exon/intron | Name | Legacy name | Classe |
---|---|---|---|
Exon 2 | c.100_117del | 232del18 | disease-causing |
Exon 3 | c.168del | 300delA | disease-causing |
Exon 3 | c.233del | 360delT | disease-causing |
Exon 3 | c.174_177del | 306delTAGA | disease-causing |
Exon 3 | c.262_263del | 394delTT | disease-causing |
Intron 3 | c.274-3397_489+710del | dele4 | disease-causing |
Exon 4 | c.308del | disease-causing | |
Exon 4 | c.442del | 574delA | disease-causing |
Exon 4 | c.409_412del | 541del4 | disease-causing |
Exon 4 | c.410_416del | disease-causing | |
Intron 4 | c.490-23_490-4del | VUS | |
Exon 5 | c.543_546del | 675del4 | disease-causing |
Exon 6 | c.601del | 733delG | disease-causing |
Exon 6 | c.671del | disease-causing | |
Exon 6 | c.723_743+1del | 852del22 | disease-causing |
Intron 6 | c.744-10_744-3del | 876-10del8 | VUS |
Intron 6 | c.744-14_744-3del | 876-14del12 | likely pathogenic |
Exon 7 | c.773del | 905delG | disease-causing |
Exon 7 | c.861_865del | 991del5 | disease-causing |
Intron 7 | c.870-1113_870-1110del | disease-causing | |
Exon 8 | c.948del | 1078delT | disease-causing |
Exon 8 | c.959del | disease-causing | |
Exon 8 | c.1002del | I336delG | VUS |
Exon 8 | c.1029del | 1161delC | disease-causing |
Exon 8 | c.1081del | 1213delT | disease-causing |
Exon 8 | c.1083del | 1215delG | disease-causing |
Exon 8 | c.935_937del | ΔF311 | disease-causing |
Exon 8 | c.1093_1094del | 1221delCT | disease-causing |
Exon 9 | c.1162_1168del | 1294del7 | disease-causing |
Exon 10 | c.1235del | 1367delC | disease-causing |
Intron 10 | c.1392+1del | disease-causing | |
Exon 10 | c.1330_1331del | 1460delAT | disease-causing |
Exon 10 | c.1360_1368del | 1491_1500del | VUS |
Exon 11 | c.1418del | 1548delG | disease-causing |
Exon 11 | c.1477_1478del | 1609delCA | disease-causing |
Exon 11 | c.1519_1521del | ΔI507 | disease-causing |
Exon 11 | c.1521_1523del | ΔF508 | disease-causing |
Exon 11 | c.1545_1546del | 1677delTA | disease-causing |
Exon 11 | c.1579_1584+11del | 1706del17 | disease-causing |
Exon 12 | c.1650del | 1782delA | disease-causing |
Exon 12 | c.1670del | 1802delC | disease-causing |
Exon 12 | c.1674del | 1806delA | disease-causing |
Exon 12 | c.1642_1643del | 1774delCT | disease-causing |
Exon 13 | c.1703del | 1833delT | disease-causing |
Exon 14 | c.1904del | disease-causing | |
Exon 14 | c.1911del | 2043delG | disease-causing |
Exon 14 | c.1981del | 2113delA | disease-causing |
Exon 14 | c.2012del | 2143delT | disease-causing |
Exon 14 | c.2045del | disease-causing | |
Exon 14 | c.2052del | 2184delA | disease-causing |
Exon 14 | c.2215del | 2347delG | disease-causing |
Exon 14 | c.2291del | 2423delG | disease-causing |
Exon 14 | c.2373del | disease-causing | |
Exon 14 | c.2443del | disease-causing | |
Exon 14 | c.2450del | disease-causing | |
Exon 14 | c.1792_1798del | 1924del7 | disease-causing |
Exon 14 | c.1820_1903del | 1949del84 | disease-causing |
Exon 14 | c.1986_1989del | 2118del4 ; 2116delCTAA | disease-causing |
Exon 14 | c.2051_2052del | 2183delAA | disease-causing |
Exon 14 | c.2241_2248del | 2372del8 | disease-causing |
Exon 14 | c.2249_2256del | 2380_2387del | disease-causing |
Exon 14 | c.2324_2325del | 2456delAC | disease-causing |
Intron 14 | c.2490+4_2490+7del | VUS | |
Exon 15 | c.2502del | 2634delT | disease-causing |
Exon 15 | c.2508del | 2640delT | disease-causing |
Exon 15 | c.2583del | 2711delT | disease-causing |
Exon 15 | c.2589_2599del | 2721del11 | disease-causing |
Intron 15 | c.2619+20_2619+24del | IVS14a+17del5 | VUS |
Intron 15 | c.2619+86_2619+87del | non disease-causing | |
Exon 16 | c.2637_2644del | disease-causing | |
Exon 17 | c.2875del | 3007delG | disease-causing |
Exon 18 | c.2924_2925del | 3056delGA | disease-causing |
Exon 19 | c.3011del | disease-causing | |
Exon 19 | c.3022del | 3154delG | disease-causing |
Exon 19 | c.3138del | VUS | |
Exon 19 | c.2997_3000del | 3129del4 ; 3126del4 | disease-causing |
Exon 19 | c.3011_3019del | 3143del9 | disease-causing |
Exon 19 | c.3064_3117del | 3196del54 | disease-causing |
Exon 19 | c.3067_3072del | 3199del6 ; 3195del6 | disease-causing |
Exon 19 | c.3068_3072del | 3200_3204delTAGTG | disease-causing |
Exon 20 | c.3180del | 3312delA | VUS |
Exon 20 | c.3264del | 3396delC | disease-causing |
Exon 20 | c.3324del | disease-causing | |
Exon 20 | c.3229_3230del | 3359delCT | disease-causing |
Exon 21 | c.3371_3373del | E1123del | VUS |
Exon 21 | c.3419_3421del | ΔM1140 | disease-causing |
Exon 21 | c.3454_3455del | VUS | |
Exon 22 | c.3528del | 3659delC | disease-causing |
Exon 22 | c.3605del | 3737delA | disease-causing |
Exon 22 | c.3623del | 3755delG | disease-causing |
Exon 22 | c.3659del | 3791delC | disease-causing |
Exon 22 | c.3691del | 3821delT | disease-causing |
Intron 22 | c.3717+53del | VUS | |
Exon 22 | c.3618_3619del | 3750delAG | disease-causing |
Exon 23 | c.3747del | 3878delG | disease-causing |
Intron 23 | c.3874-19_3874-17del | 4006-19del3 | VUS |
Exon 24 | c.3883del | 4015delA | disease-causing |
Exon 24 | c.3883_3886del | 4010del4 | disease-causing |
Exon 25 | c.4071del | disease-causing | |
Intron 26 | c.4243-7del | disease-causing | |
Intron 26 | c.4243-32del | VUS | |
Intron 26 | c.4243-33del | VUS | |
Exon 26 | c.4197_4198del | 4326delTC | disease-causing |
Exon 26 | c.4200_4201del | 4332delTG | disease-causing |
Exon 27 | c.4251del | 4382delA | disease-causing |