The CFTR-France database has retrieved 104 DELETIONS, which are displayed below:



Variants listing:
#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 unclassified
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 unclassified
Intron 6 c.744-14_744-3del 876-14del12 unclassified
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 unclassified
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 unclassified
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 unclassified
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 unclassified
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 unclassified
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 unclassified
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 unclassified
Exon 21 c.3419_3421del ΔM1140 disease-causing
Exon 21 c.3454_3455del unclassified
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 unclassified
Exon 22 c.3618_3619del 3750delAG disease-causing
Intron 23 c.3874-19_3874-17del 4006-19del3 unclassified
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 unclassified
Intron 26 c.4243-33del unclassified
Exon 26 c.4197_4198del 4326delTC disease-causing
Exon 26 c.4200_4201del 4332delTG disease-causing
Exon 27 c.4251del 4382delA disease-causing





Go to CFTRare