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CFTR- France & CFTR-NGS catalog have retrieved 55 DUPLICATIONS, 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) |
|---|---|---|---|---|---|---|---|
| Exon 1 | c.25dup | disease-causing | CF:2 CFTR-RD:1 | - | - | ||
| Exon 1 | c.49_50dup | disease-causing | CF:1 | - | - | ||
| Intron 1 | c.54-10886dupA | not reported | Suspicion of CF:1 | 0.011281 | AG: 0.00 (-48) AL: 0.00 (-17) DG: 0.00 (-16) DL: 0.00 (-18) | ||
| Intron 1 | c.54-8604_54-8603dupAC | not reported | CFTR-RD:1 | 0.000831 | - | ||
| Intron 1 | c.54-4235_164+377dup4723 | disease-causing | CF:1 | - | - | ||
| Intron 2 | c.164+408_164+410dupAAA | not reported | Suspicion of CF:1 | - | - | ||
| Exon 3 | c.175dup | 306insA | disease-causing | CF:1 | - | - | |
| Exon 3 | c.233dup | 359insT ; 360-365insT ; 365-366insT (W79fs) | disease-causing | CF:2 CFTR-RD:2 | - | - | |
| Intron 3 | c.273+2723dupG | not reported | CFTR-RD:1 | - | AG: 0.00 (28) AL: 0.00 (2) DG: 0.00 (26) DL: 0.00 (2) | ||
| Intron 3 | c.273+8685_273+8686dupAT | not reported | Asymptomatic:9 CF:6 CFTR-RD:7 Pending (NBS):6 Suspicion of CF:11 | 0.248856 | - | ||
| Exon 4 | c.413_415dup | L138ins | disease-causing | - | - | ||
| Exon 5 | c.531dup | disease-causing | CF:1 | - | - | ||
| Exon 6 | c.586dup | disease-causing | CF:1 | - | - | ||
| Intron 7 | c.869+731dupT | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.22626 | AG: 0.00 (12) AL: 0.00 (-21) DG: 0.00 (12) DL: 0.00 (47) | ||
| Exon 8 | c.1008_1019dup | 1151ins12 | disease-causing | CF:1 | - | - | |
| Exon 9 | c.1130dup | disease-causing | CF:1 | - | - | ||
| Intron 9 | c.1210-2809dupT | not reported | CFTR-RD:1 | 0.006638 | AG: 0.00 (17) AL: 0.00 (19) DG: 0.00 (-8) DL: 0.00 (-10) | ||
| Exon 10 | c.1248dup | N417X | disease-causing | CF:1 | - | - | |
| Intron 10 | c.1392+4828dupT | not reported | CFTR-RD:1 Suspicion of CF:2 | 0.002345 | AG: 0.00 (37) AL: 0.00 (29) DG: 0.00 (-38) DL: 0.00 (-28) | ||
| Intron 11 | c.1585-4415dupG | not reported | Suspicion of CF:1 | - | AG: 0.00 (49) AL: 0.00 (50) DG: 0.00 (-21) DL: 0.00 (-39) | ||
| Intron 11 | c.1584+53_1584+63dup | VUS | - | - | |||
| Intron 11 | c.1585-9167_1585-9155dup13 | not reported | - | - | |||
| Exon 12 | c.1616_1617dup | 1749insTA | disease-causing | CF:1 | - | - | |
| Intron 12 | c.1679+694_2490+281dup | VUS | CFTR-RD:1 | - | - | ||
| Exon 14 | c.2044dup | disease-causing | - | - | |||
| Exon 14 | c.2045dup | 2176insC | disease-causing | - | - | ||
| Exon 14 | c.2052dup | 2184insA | disease-causing | CF:18 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 14 | c.2089dup | 2221insA | disease-causing | CFTR-RD:1 | - | - | |
| Exon 14 | c.2175dup | 2307insA | disease-causing | CF:1 | - | - | |
| Exon 15 | c.2502dup | 2634insT | disease-causing | CF:3 | - | - | |
| Exon 15 | c.2601dup | 2732insA | disease-causing | CFTR-RD:1 | - | - | |
| Intron 15 | c.2619+1125dupC | not reported | Asymptomatic:10 CF:8 CFTR-RD:10 Infertility:2 Pending (NBS):4 Suspicion of CF:12 | 0.999972 | AG: 0.00 (45) AL: 0.00 (-41) DG: 0.00 (-41) DL: 0.00 (-3) | ||
| Intron 15 | c.2619+2779dupG | not reported | Suspicion of CF:1 | 0.001165 | AG: 0.00 (43) AL: 0.00 (-44) DG: 0.00 (-20) DL: 0.00 (25) | ||
| Exon 16 | c.2639_2640dup | disease-causing | CF:1 | - | - | ||
| Exon 17 | c.2810dup | 2942insT | disease-causing | CF:1 | - | - | |
| Exon 17 | c.2810dupT | not reported | CF:1 | 7e-06 | AG: 0.00 (-10) AL: 0.00 (22) DG: 0.00 (-9) DL: 0.00 (2) | ||
| Exon 17 | c.2763_2764dup | 2896insAG | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Intron 18 | c.2988+1465dupT | not reported | Suspicion of CF:1 | - | - | ||
| Intron 19 | c.3139+187dup | VUS | Asymptomatic:1 | - | - | ||
| Exon 20 | c.3263dup | disease-causing | CF:1 | - | - | ||
| Intron 20 | c.3368-2dup | VUS | CF:1 | - | - | ||
| Exon 20 | c.3184_3188dup | 3320ins5 | disease-causing | CF:1 | - | - | |
| Exon 22 | c.3492dup | K1165X | disease-causing | - | - | ||
| Exon 22 | c.3532_3535dup | 3667ins4 | disease-causing | CF:1 | - | - | |
| Intron 22 | c.3717+5574dupT | not reported | Suspicion of CF:1 | 0.000658 | AG: 0.00 (42) AL: 0.00 (-7) DG: 0.00 (12) DL: 0.00 (-30) | ||
| Intron 22 | c.3718-770_3718-750dup21 | not reported | Asymptomatic:1 | - | - | ||
| Exon 23 | c.3767dup | 3898insC | disease-causing | CF:1 | - | - | |
| Exon 23 | c.3773dup | 3905insT | disease-causing | CF:4 CFTR-RD:1 | - | - | |
| Exon 24 | c.3889dup | 4016insT | disease-causing | CF:7 CFTR-RD:2 Pending:1 | - | - | |
| Exon 24 | c.3891dup | 4022insT | disease-causing | CF:1 | - | - | |
| Exon 25 | c.4086dup | 4218insT | disease-causing | CF:1 | - | - | |
| Exon 26 | c.4147dup | 4279insA | disease-causing | CFTR-RD:1 | - | - | |
| Exon 27 | c.4303dup | disease-causing | CFTR-RD:3 | - | - | ||
| Exon 27 | c.4374dup | VUS | Pending:1 | - | - | ||
| Exon 27 | c.4300_4301dup | 4428insGA | disease-causing | CF:3 CFTR-RD:1 | - | - |