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The CFTR-NGS catalog has retrieved 217 DELETIONS, which are displayed below:
| #Exon/intron | Name (HGVS) | Legacy name | Class in CFTR-France | Report in CFTR-NGS | MAF (GnomAD) | Splicing prediction (SpliceAI) |
|---|---|---|---|---|---|---|
| UTR 5 | c.3468+6401_3468+6404del5 | not reported | - | - | ||
| Intron 1 | c.54-1412delA | not reported | Suspicion of CF:1 | - | AG: 0.00 (46) AL: 0.00 (-37) DG: 0.00 (12) DL: 0.00 (44) | |
| Intron 1 | c.54-3942delA | not reported | - | - | ||
| Intron 1 | c.54-3948delA | not reported | - | - | ||
| Intron 1 | c.54-3949delG | not reported | - | - | ||
| Intron 1 | c.54-9813delC | not reported | Asymptomatic:23 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:24 | 0.563628 | AG: 0.00 (-35) AL: 0.00 (42) DG: 0.00 (-25) DL: 0.00 (50) | |
| Intron 1 | c.54-6848_54-6841del8 | not reported | Asymptomatic:1 | - | - | |
| Intron 1 | c.53+2325_53+2352del28 | not reported | Asymptomatic:1 | - | - | |
| Intron 1 | c.53+7122_53+7131del10 | not reported | Pending (NBS):1 | - | - | |
| Intron 1 | c.53+9519_53+9528del10 | not reported | Asymptomatic:1 | - | - | |
| Intron 1 | c.54-3942_54-3941delAG | not reported | CFTR-RD:1 | - | AG: 0.00 (-2) AL: 0.00 (23) DG: 0.00 (-2) DL: 0.00 (23) | |
| Intron 1 | c.54-3950_54-3949delTG | not reported | - | - | ||
| Intron 1 | c.54-7459_54-7449del11 | not reported | Asymptomatic:1 | - | - | |
| 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.273+3513delG | not reported | - | - | ||
| Intron 3 | c.274-7743delA | not reported | CFTR-RD:1 | 0.020553 | AG: 0.00 (-25) AL: 0.00 (39) DG: 0.00 (19) DL: 0.00 (1) | |
| Intron 3 | c.274-9503delC | not reported | Asymptomatic:1 | - | AG: 0.00 (0) AL: 0.00 (-39) DG: 0.00 (-45) DL: 0.00 (-13) | |
| Intron 3 | c.273+93_273+103del11 | not reported | Suspicion of CF:1 | - | - | |
| Intron 3 | c.274-3397_489+710del | dele4 | disease-causing | - | - | |
| Intron 3 | c.273+7616_273+7624del9 | not reported | Suspicion of CF:1 | - | - | |
| Intron 3 | c.274-5989_274-5981del9 | not reported | Pending (NBS):1 | - | - | |
| Intron 3 | c.273+1205_273+1215del11 | not reported | CFTR-RD:1 | - | - | |
| Intron 3 | c.273+3513_273+3514delGA | not reported | - | - | ||
| Intron 3 | c.274-8353_274-8343del11 | not reported | Asymptomatic:1 | - | - | |
| Intron 3 | c.273+8918_273+8920delTGT | not reported | Asymptomatic:5 CF:3 CFTR-RD:6 Pending (NBS):3 Suspicion of CF:11 | 0.092059 | AG: 0.00 (-14) AL: 0.00 (-31) DG: 0.00 (4) DL: 0.00 (45) | |
| 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.490-16delT | not reported | CFTR-RD:1 | - | AG: 0.00 (28) AL: 0.00 (21) DG: 0.00 (45) DL: 0.00 (28) | |
| Exon 4 | c.469_477del9 | not reported | Asymptomatic:1 | - | - | |
| Intron 4 | c.490-23_490-4del | VUS | - | - | ||
| Intron 4 | c.490-287_490-276del12 | not reported | CFTR-RD:1 | - | - | |
| Exon 5 | c.543_546del | 675del4 | disease-causing | - | - | |
| Exon 5 | c.519_526del8 | not reported | CFTR-RD:1 | - | - | |
| 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 | VUS | - | - | |
| Exon 7 | c.773del | 905delG | disease-causing | - | - | |
| Exon 7 | c.861_865del | 991del5 | disease-causing | - | - | |
| Intron 7 | c.870-1345delA | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:34 | 0.574576 | AG: 0.00 (-43) AL: 0.00 (-49) DG: 0.00 (-48) DL: 0.00 (35) | |
| Intron 7 | c.869+288_869+322del35 | not reported | Asymptomatic:1 | - | - | |
| Intron 7 | c.869+611_869+629del19 | not reported | Pending (NBS):1 | - | - | |
| Intron 7 | c.870-1113_870-1110del | disease-causing | - | - | ||
| Intron 7 | c.870-1113_870-1110delGAAT | not reported | Asymptomatic:1 CFTR-RD:1 | - | AG: 0.29 (-48) AL: 0.00 (26) DG: 0.00 (47) DL: 0.00 (-48) | |
| 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 | - | - | |
| Intron 8 | c.1117-358delT | not reported | Asymptomatic:19 CF:8 CFTR-RD:11 Pending (NBS):4 Suspicion of CF:27 | 7e-06 | AG: 0.00 (42) AL: 0.00 (46) DG: 0.00 (38) DL: 0.00 (25) | |
| Exon 9 | c.1162_1168del | 1294del7 | disease-causing | - | - | |
| Intron 9 | c.1209+142_1209+148del7 | not reported | CF:1 | - | - | |
| Intron 9 | c.1209+153_1209+178del26 | not reported | CF:1 | - | - | |
| Intron 9 | c.1210-275_1210-274delAT | not reported | Suspicion of CF:1 | - | - | |
| Intron 9 | c.1209+2122_1209+2126del5 | not reported | Suspicion of CF:1 | 0.00143 | - | |
| Intron 9 | c.1209+1964_1209+1975del12 | not reported | CFTR-RD:1 | - | - | |
| Intron 9 | c.1209+2111_1209+2113delGGA | not reported | Suspicion of CF:1 | 0.001431 | AG: 0.00 (10) AL: 0.08 (-25) DG: 0.00 (-2) DL: 0.00 (16) | |
| Exon 10 | c.1235del | 1367delC | disease-causing | - | - | |
| Intron 10 | c.1392+1del | VUS | - | - | ||
| Exon 10 | c.1330_1331del | 1460delAT | disease-causing | - | - | |
| Exon 10 | c.1360_1368del | 1491_1500del | VUS | - | - | |
| Intron 10 | c.1392+198delT | not reported | Asymptomatic:16 CF:10 CFTR-RD:11 Pending (NBS):12 Suspicion of CF:5 | 0.376539 | AG: 0.00 (44) AL: 0.00 (8) DG: 0.00 (-6) DL: 0.00 (-8) | |
| Exon 10 | c.1234_1238del5 | not reported | - | - | ||
| Intron 10 | c.1393-2926delG | not reported | - | - | ||
| Intron 10 | c.1392+617_1392+624del8 | not reported | Pending (NBS):1 | - | - | |
| Intron 10 | c.1393-613_1393-604del10 | not reported | Pending (NBS):1 | - | - | |
| Intron 10 | c.1392+3810_1392+3818del9 | not reported | CFTR-RD:1 | - | - | |
| Intron 10 | c.1392+3257_1392+3277del21 | not reported | CFTR-RD:1 | - | - | |
| Intron 10 | c.1393-1489_1393-1488delTA | not reported | CF:1 CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | 0.001614 | AG: 0.00 (31) AL: 0.00 (-9) DG: 0.00 (31) DL: 0.00 (0) | |
| Intron 10 | c.1393-1912_1393-1899del14 | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:13 | 0.236563 | - | |
| Intron 10 | c.1393-2927_1393-2926delTG | not reported | - | - | ||
| Intron 10 | c.1393-3544_1393-3535del10 | not reported | Asymptomatic:1 | - | - | |
| Intron 10 | c.1393-3575_1393-3559del17 | not reported | Pending (NBS):1 | - | - | |
| Intron 10 | c.1393-5118_1393-5109del10 | not reported | Asymptomatic:1 | - | - | |
| 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 | Asymptomatic:6 CF:11 CFTR-RD:8 Pending (NBS):13 Suspicion of CF:11 | 0.00796 | AG: 0.00 (-39) AL: 0.01 (29) DG: 0.00 (-39) DL: 0.00 (-10) |
| Exon 11 | c.1545_1546del | 1677delTA | disease-causing | - | - | |
| Intron 11 | c.1585-443delA | not reported | Infertility:1 | - | AG: 0.00 (-2) AL: 0.00 (14) DG: 0.00 (29) DL: 0.01 (-8) | |
| Intron 11 | c.1584+3867delA | not reported | CFTR-RD:1 | 0.038238 | AG: 0.00 (-6) AL: 0.00 (-32) DG: 0.00 (-26) DL: 0.00 (-32) | |
| Intron 11 | c.1585-3307delC | not reported | Suspicion of CF:1 | 0.001082 | AG: 0.00 (-8) AL: 0.00 (12) DG: 0.00 (48) DL: 0.00 (-4) | |
| Intron 11 | c.1585-4416delC | not reported | Suspicion of CF:1 | 0.0166 | AG: 0.00 (-7) AL: 0.00 (39) DG: 0.00 (-32) DL: 0.00 (-30) | |
| Intron 11 | c.1584+13048delC | not reported | CF:1 Suspicion of CF:1 | 5.6e-05 | AG: 0.00 (-28) AL: 0.00 (32) DG: 0.00 (36) DL: 0.00 (43) | |
| Intron 11 | c.1585-10862delC | not reported | Asymptomatic:3 CF:2 CFTR-RD:3 Pending (NBS):2 Suspicion of CF:5 | 0.173777 | AG: 0.00 (9) AL: 0.00 (5) DG: 0.00 (-36) DL: 0.00 (-43) | |
| Exon 11 | c.1579_1584+11del | 1706del17 | disease-causing | - | - | |
| Intron 11 | c.1584+3634_1584+3641del8 | not reported | Suspicion of CF:1 | - | - | |
| Intron 11 | c.1584+2686_1584+2687delAT | not reported | Asymptomatic:1 | - | - | |
| Intron 11 | c.1585-7695_1585-7670del26 | not reported | Pending (NBS):1 | - | - | |
| Intron 11 | c.1585-8954_1585-8953delCT | not reported | Suspicion of CF:1 | 5.6e-05 | AG: 0.00 (-23) AL: 0.00 (-28) DG: 0.00 (-34) DL: 0.00 (-13) |
