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CFTR- France & CFTR-NGS catalog have retrieved 31 VARIANTS INVOLVED IN COMPLEX ALLELES, 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) |
|---|---|---|---|---|---|---|---|
| Intron 2 | c.[165-291_1585-8528delins39;2619+2288_2989-839delins16] | CFTRdele3-10,14b-16 | disease-causing | CF:5 CFTR-RD:2 | - | - | |
| Exon 3 | c.221G>A | R74Q | VUS | CFTR-RD:2 Pending:1 | - | - | |
| Exon 3 | c.220C>T | R74W | disease-causing | CFTR-RD:1 Suspicion of CF:1 | Asymptomatic:9 CF:3 CFTR-RD:52 Pending:11 | 0.004335 | AG: 0.00 (42) AL: 0.00 (-43) DG: 0.00 (6) DL: 0.00 (50) |
| Exon 6 | c.601G>A | V201M | disease-causing | CFTR-RD:1 | Asymptomatic:3 CF:3 CFTR-RD:33 Pending:7 | 0.000454 | AG: 0.00 (22) AL: 0.05 (-21) DG: 0.00 (-21) DL: 0.00 (16) |
| Exon 6 | c.627A>G | A209A (759A/G) | VUS | CF:2 | CF:3 CFTR-RD:1 Pending:2 | 2.1e-05 | AG: 0.02 (-47) AL: 0.00 (34) DG: 0.00 (33) DL: 0.00 (-10) |
| Exon 6 | c.617T>G | L206W | disease-causing | Asymptomatic:2 CF:26 CFTR-RD:65 Pending:27 | - | - | |
| Exon 8 | c.890G>A | R297Q | VUS | Asymptomatic:1 CFTR-RD:2 Pending:1 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[11]T[5] | TG11T5 | VUS | Asymptomatic:18 CF:9 CFTR-RD:135 Fetal bowel anomalies:3 Pending:7 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[12]T[5] | TG12T5 | disease-causing | Asymptomatic:13 CF:17 CFTR-RD:369 Fetal bowel anomalies:1 Pending:16 | - | - | |
| Intron 9 | c.1210-12T[5] | poly-T tract variations | disease-causing | Asymptomatic:1 CF:5 CFTR-RD:61 Pending:3 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[9]T[9] | TG9T9 | non disease-causing | CF:5 CFTR-RD:26 Pending:9 | - | - | |
| Exon 10 | c.1327G>T | D443Y | disease-causing | Asymptomatic:5 CFTR-RD:63 Pending:3 | - | - | |
| Exon 11 | c.1523T>G | F508C | disease-causing | CF:1 | Asymptomatic:2 CF:8 CFTR-RD:33 Pending:1 | 0.000879 | AG: 0.03 (-43) AL: 0.01 (25) DG: 0.00 (-44) DL: 0.00 (-43) |
| Exon 11 | c.1521_1523del | ΔF508 | disease-causing | Asymptomatic:6 CF:11 CFTR-RD:8 Pending (NBS):13 Suspicion of CF:11 | Asymptomatic:65 CF:2608 CFTR-RD:842 Fetal bowel anomalies:56 Pending:213 Ultrasound signs of fetal anomalies:1 | 0.00796 | AG: 0.00 (-39) AL: 0.01 (29) DG: 0.00 (-39) DL: 0.00 (-10) |
| Exon 13 | c.1684G>A | V562I | VUS | CFTR-RD:1 | Asymptomatic:1 CF:5 CFTR-RD:33 Pending:3 | - | AG: 0.03 (-2) AL: 0.42 (1) DG: 0.00 (31) DL: 0.00 (1) |
| Exon 13 | c.1727G>C | G576A | disease-causing | Asymptomatic:16 CF:5 CFTR-RD:93 Fetal bowel anomalies:1 Pending:8 | - | - | |
| Intron 13 | c.1766+5G>A | 1898+5G>A | disease-causing | CF:4 | - | - | |
| Exon 14 | c.2173G>A | E725K | VUS | Asymptomatic:1 CF:1 CFTR-RD:1 Pending:1 | - | - | |
| Exon 14 | c.2421A>G | I807M ; 2553A/G | disease-causing | Asymptomatic:2 CFTR-RD:7 | - | - | |
| Exon 14 | c.2002C>T | R668C | disease-causing | Suspicion of CF:1 | Asymptomatic:17 CF:7 CFTR-RD:96 Fetal bowel anomalies:1 Pending:7 | 0.006121 | AG: 0.24 (13) AL: 0.22 (-40) DG: 0.00 (13) DL: 0.00 (-40) |
| Exon 14 | c.2260G>A | V754M | non disease-causing | Asymptomatic:2 CF:3 CFTR-RD:9 Pending:1 | - | - | |
| Intron 15 | c.2619+86_2619+87del | non disease-causing | Asymptomatic:17 CF:17 CFTR-RD:87 Fetal bowel anomalies:1 Pending:17 | - | - | ||
| Exon 15 | c.2562T>G | T854T (2694T/G) | non disease-causing | Asymptomatic:13 CF:5 CFTR-RD:12 Infertility:1 Pending (NBS):11 Suspicion of CF:24 | Asymptomatic:30 CF:235 CFTR-RD:445 Fetal bowel anomalies:4 Pending:63 | 0.429695 | AG: 0.00 (0) AL: 0.00 (10) DG: 0.00 (0) DL: 0.00 (-8) |
| Intron 18 | c.2989-313A>T | disease-causing | CF:2 | CF:3 CFTR-RD:1 Pending:2 | - | AG: 0.23 (-35) AL: 0.00 (25) DG: 0.55 (-2) DL: 0.00 (-36) | |
| Exon 18 | c.2930C>T | S977F | disease-causing | Asymptomatic:1 CF:4 CFTR-RD:10 Pending:3 | - | - | |
| Exon 19 | c.3080T>C | I1027T | VUS | Suspicion of CF:1 | CF:24 CFTR-RD:22 Pending:2 | 0.00037 | AG: 0.04 (-21) AL: 0.00 (35) DG: 0.00 (-21) DL: 0.00 (-17) |
| Exon 23 | c.3752G>A | S1251N | disease-causing | CF:16 CFTR-RD:2 | - | - | |
| Exon 23 | c.3808G>A | D1270N | disease-causing | CFTR-RD:1 Suspicion of CF:1 | Asymptomatic:7 CF:3 CFTR-RD:47 Pending:11 | 0.004392 | AG: 0.00 (36) AL: 0.00 (-41) DG: 0.00 (3) DL: 0.00 (40) |
| Intron 25 | c.4137-139G>A | 4269-139G/A | non disease-causing | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | Asymptomatic:15 CF:24 CFTR-RD:122 Pending:17 | 0.235764 | AG: 0.00 (2) AL: 0.00 (-37) DG: 0.00 (2) DL: 0.00 (38) |
| Exon 25 | c.4056G>T | Q1352H(G>T) | VUS | Asymptomatic:1 CFTR-RD:4 | - | - | |
| Exon 27 | c.4389G>A | Q1463Q (4521G/A) | non disease-causing | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | Asymptomatic:27 CF:127 CFTR-RD:308 Pending:43 | 0.234066 | AG: 0.00 (17) AL: 0.00 (1) DG: 0.00 (-23) DL: 0.00 (33) |