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CFTR- France & CFTR-NGS catalog have retrieved 1322 INTRONIC VARIANTS, 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 1 | c.53+3158A>G | non disease-causing | CF:3 | CF:3 CFTR-RD:1 | 1.4e-05 | AG: 0.00 (5) AL: 0.00 (29) DG: 0.00 (-1) DL: 0.00 (-11) | |
| Intron 1 | c.53+1G>T | 185+1G>T | disease-causing | CF:1 Fetal bowel anomalies:1 | - | - | |
| Intron 1 | c.54-4235_164+377dup4723 | disease-causing | CF:1 | - | - | ||
| Intron 1 | c.53+4A>T | 185+4A>T | VUS | CF:1 CFTR-RD:1 Pending:1 | - | - | |
| Intron 1 | c.54-13C>G | 186-13C>G | VUS | CF:1 | - | - | |
| Intron 1 | c.54-589A>G | VUS | Asymptomatic:11 CF:13 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:12 | CF:5 CFTR-RD:6 Pending:4 | 0.068437 | AG: 0.00 (-42) AL: 0.00 (26) DG: 0.00 (-1) DL: 0.01 (26) | |
| Intron 1 | c.53+10199_53+10208dup10 | not reported | Pending (NBS):2 | 0.034495 | - | ||
| Intron 1 | c.53+10201_53+10208dup8 | not reported | Pending (NBS):1 Suspicion of CF:1 | 0.019662 | - | ||
| Intron 1 | c.53+10203_53+10208del6 | not reported | CFTR-RD:1 | 0.020353 | AG: 0.00 (1) AL: 0.00 (-46) DG: 0.00 (-47) DL: 0.00 (-49) | ||
| Intron 1 | c.53+10203_53+10208dup6 | not reported | Asymptomatic:1 CFTR-RD:1 Suspicion of CF:1 | 0.058742 | - | ||
| Intron 1 | c.53+10205_53+10208delCACA | not reported | Asymptomatic:1 CFTR-RD:1 Pending (NBS):1 | 0 | AG: 0.00 (-26) AL: 0.00 (-36) DG: 0.00 (50) DL: 0.00 (-27) | ||
| Intron 1 | c.53+10205_53+10208dupCACA | not reported | Asymptomatic:2 CF:1 CFTR-RD:2 Pending (NBS):2 | - | - | ||
| Intron 1 | c.53+10207_53+10208delCA | not reported | Asymptomatic:6 CF:4 CFTR-RD:6 Pending (NBS):4 Suspicion of CF:6 | 0 | AG: 0.00 (41) AL: 0.00 (-31) DG: 0.00 (50) DL: 0.00 (-27) | ||
| Intron 1 | c.53+10207_53+10208dupCA | not reported | Asymptomatic:4 CF:5 CFTR-RD:8 Infertility:1 Pending (NBS):4 Suspicion of CF:8 | - | - | ||
| Intron 1 | c.53+10331G>C | not reported | Suspicion of CF:3 | 0.000793 | AG: 0.00 (33) AL: 0.00 (-20) DG: 0.00 (-8) DL: 0.00 (-5) | ||
| Intron 1 | c.53+10442G>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:17 | 0.2256 | AG: 0.00 (6) AL: 0.00 (1) DG: 0.00 (-26) DL: 0.00 (-1) | ||
| Intron 1 | c.53+10554C>G | not reported | CFTR-RD:1 Pending (NBS):1 | 0.019788 | AG: 0.00 (-33) AL: 0.00 (-39) DG: 0.00 (26) DL: 0.00 (32) | ||
| Intron 1 | c.53+10565G>A | not reported | CF:1 Suspicion of CF:2 | 0.002509 | AG: 0.00 (-44) AL: 0.00 (16) DG: 0.00 (15) DL: 0.00 (-50) | ||
| Intron 1 | c.53+10714C>T | not reported | Asymptomatic:2 CF:1 CFTR-RD:2 Suspicion of CF:1 | 0.038003 | AG: 0.00 (13) AL: 0.00 (-14) DG: 0.00 (-26) DL: 0.00 (12) | ||
| Intron 1 | c.53+10983C>T | not reported | Asymptomatic:11 CF:13 CFTR-RD:11 Pending (NBS):13 Suspicion of CF:13 | 0.119336 | AG: 0.00 (21) AL: 0.00 (-14) DG: 0.00 (-34) DL: 0.00 (44) | ||
| Intron 1 | c.53+11393A>G | not reported | CF:2 Suspicion of CF:1 | 9.1e-05 | AG: 0.00 (-5) AL: 0.00 (-18) DG: 0.00 (-5) DL: 0.00 (-33) | ||
| Intron 1 | c.53+11406C>T | not reported | Asymptomatic:1 | 7e-06 | AG: 0.00 (25) AL: 0.00 (-45) DG: 0.00 (-9) DL: 0.00 (2) | ||
| Intron 1 | c.53+11652G>A | not reported | Asymptomatic:1 | 6.3e-05 | AG: 0.00 (2) AL: 0.00 (-18) DG: 0.00 (3) DL: 0.00 (-6) | ||
| Intron 1 | c.53+11718C>T | not reported | CF:1 | 0.000873 | AG: 0.00 (8) AL: 0.00 (-24) DG: 0.00 (45) DL: 0.00 (27) | ||
| Intron 1 | c.53+11897T>A | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:17 | 0.226354 | AG: 0.00 (-16) AL: 0.00 (-2) DG: 0.00 (1) DL: 0.00 (-2) | ||
| Intron 1 | c.53+11978A>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:17 | 0.231976 | AG: 0.00 (1) AL: 0.00 (6) DG: 0.00 (48) DL: 0.00 (-16) | ||
| Intron 1 | c.53+11991G>A | not reported | Asymptomatic:2 CFTR-RD:1 | 0.000643 | AG: 0.00 (-7) AL: 0.00 (-29) DG: 0.00 (35) DL: 0.00 (-29) | ||
| Intron 1 | c.53+1451A>G | not reported | Pending (NBS):1 | - | AG: 0.00 (-21) AL: 0.00 (-39) DG: 0.00 (16) DL: 0.00 (-3) | ||
| Intron 1 | c.53+2034A>C | not reported | Asymptomatic:2 CF:2 CFTR-RD:1 Suspicion of CF:7 | 0.01109 | AG: 0.00 (13) AL: 0.00 (2) DG: 0.00 (43) DL: 0.00 (-37) | ||
| Intron 1 | c.53+2253T>G | not reported | Asymptomatic:11 CF:13 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:9 | 0.076794 | AG: 0.00 (-49) AL: 0.00 (37) DG: 0.00 (35) DL: 0.00 (-11) | ||
| Intron 1 | c.53+2325_53+2352del28 | not reported | Asymptomatic:1 | - | - | ||
| Intron 1 | c.53+241A>C | not reported | CF:1 | - | AG: 0.00 (13) AL: 0.00 (-45) DG: 0.01 (13) DL: 0.00 (-7) | ||
| Intron 1 | c.53+2545G>A | not reported | Suspicion of CF:1 | 0.001396 | AG: 0.00 (-1) AL: 0.00 (1) DG: 0.00 (-13) DL: 0.00 (1) | ||
| Intron 1 | c.53+2600T>G | not reported | Suspicion of CF:1 | 0.000244 | AG: 0.00 (16) AL: 0.00 (4) DG: 0.00 (6) DL: 0.00 (3) | ||
| Intron 1 | c.53+2664G>A | not reported | Asymptomatic:11 CF:13 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:13 | 0.07602 | AG: 0.00 (15) AL: 0.00 (6) DG: 0.00 (7) DL: 0.00 (27) | ||
| Intron 1 | c.53+2680G>A | not reported | Pending (NBS):1 | 0.001061 | AG: 0.00 (41) AL: 0.00 (-10) DG: 0.00 (-9) DL: 0.00 (-1) | ||
| Intron 1 | c.53+2700C>T | not reported | Asymptomatic:3 CF:2 CFTR-RD:1 Suspicion of CF:9 | 0.021518 | AG: 0.00 (46) AL: 0.00 (-30) DG: 0.00 (46) DL: 0.00 (23) | ||
| Intron 1 | c.53+2839C>T | not reported | CF:1 | 7e-06 | AG: 0.00 (49) AL: 0.00 (12) DG: 0.00 (-2) DL: 0.00 (12) | ||
| Intron 1 | c.53+2972C>T | not reported | CFTR-RD:1 | 0.00222 | AG: 0.00 (-38) AL: 0.00 (30) DG: 0.00 (-38) DL: 0.00 (3) | ||
| Intron 1 | c.53+3384delA | not reported | Asymptomatic:1 | 7e-06 | AG: 0.00 (29) AL: 0.00 (-31) DG: 0.00 (43) DL: 0.00 (47) | ||
| Intron 1 | c.53+3600dupT | not reported | CFTR-RD:1 | 0.000589 | AG: 0.00 (17) AL: 0.00 (25) DG: 0.00 (-33) DL: 0.00 (-25) | ||
| Intron 1 | c.53+3886G>T | not reported | Infertility:1 | 7e-06 | AG: 0.00 (46) AL: 0.00 (-3) DG: 0.00 (-39) DL: 0.00 (40) | ||
| Intron 1 | c.53+400G>A | not reported | Pending (NBS):1 | 0.000405 | AG: 0.00 (2) AL: 0.05 (-11) DG: 0.00 (3) DL: 0.00 (6) | ||
| Intron 1 | c.53+4212T>C | not reported | Pending (NBS):1 | - | AG: 0.00 (0) AL: 0.00 (-4) DG: 0.00 (35) DL: 0.00 (-6) | ||
| Intron 1 | c.53+4283G>A | not reported | CF:2 | 0.000119 | AG: 0.00 (23) AL: 0.00 (0) DG: 0.00 (-47) DL: 0.00 (49) | ||
| Intron 1 | c.53+4972G>C | not reported | CF:1 | 7e-06 | AG: 0.00 (33) AL: 0.00 (-10) DG: 0.00 (-29) DL: 0.00 (-3) | ||
| Intron 1 | c.53+5419C>A | not reported | Infertility:1 | - | AG: 0.00 (2) AL: 0.00 (50) DG: 0.00 (-37) DL: 0.00 (9) | ||
| Intron 1 | c.53+5420G>A | not reported | CF:1 Suspicion of CF:1 | 0.004051 | AG: 0.00 (2) AL: 0.00 (13) DG: 0.00 (8) DL: 0.00 (20) | ||
| Intron 1 | c.53+574T>G | not reported | CFTR-RD:1 | 0.020353 | AG: 0.00 (1) AL: 0.00 (-46) DG: 0.00 (-47) DL: 0.00 (-49) | ||
| Intron 1 | c.53+5954C>T | not reported | CFTR-RD:1 | 5.6e-05 | AG: 0.00 (-1) AL: 0.00 (-45) DG: 0.00 (3) DL: 0.00 (39) | ||
| Intron 1 | c.53+6200G>A | not reported | Asymptomatic:4 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.107537 | AG: 0.00 (-11) AL: 0.00 (-1) DG: 0.00 (-17) DL: 0.00 (-1) | ||
| Intron 1 | c.53+6768_53+6771dupGAGA | not reported | Asymptomatic:8 CF:8 CFTR-RD:9 Pending (NBS):14 Suspicion of CF:6 | 0.133272 | - | ||
| Intron 1 | c.53+6770_53+6771delGA | not reported | Asymptomatic:3 CF:3 CFTR-RD:2 Suspicion of CF:4 | 1.9e-05 | AG: 0.00 (39) AL: 0.00 (42) DG: 0.00 (-28) DL: 0.00 (41) | ||
| Intron 1 | c.53+6770_53+6771dupGA | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | - | - | ||
| Intron 1 | c.53+6842G>A | not reported | Suspicion of CF:1 | 0.00633 | AG: 0.00 (44) AL: 0.00 (-21) DG: 0.00 (-13) DL: 0.00 (-34) | ||
| Intron 1 | c.53+6926C>T | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.004151 | AG: 0.00 (5) AL: 0.00 (-40) DG: 0.00 (-7) DL: 0.00 (35) | ||
| Intron 1 | c.53+7084A>C | not reported | Suspicion of CF:1 | 0.001194 | AG: 0.00 (34) AL: 0.00 (32) DG: 0.00 (8) DL: 0.00 (-15) | ||
| Intron 1 | c.53+7122_53+7131del10 | not reported | Pending (NBS):1 | - | - | ||
| Intron 1 | c.53+7538A>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:17 | 0.247988 | AG: 0.00 (-2) AL: 0.00 (-5) DG: 0.00 (-2) DL: 0.00 (8) | ||
| Intron 1 | c.53+7621C>A | not reported | Asymptomatic:1 Suspicion of CF:2 | 0.010528 | AG: 0.00 (-27) AL: 0.00 (-3) DG: 0.00 (-4) DL: 0.00 (22) | ||
| Intron 1 | c.53+7851C>T | not reported | Asymptomatic:4 CF:5 | 0.010669 | AG: 0.00 (-33) AL: 0.00 (-4) DG: 0.00 (-33) DL: 0.00 (-4) | ||
| Intron 1 | c.53+7928G>A | not reported | Asymptomatic:2 Pending (NBS):1 Suspicion of CF:1 | 0.018309 | AG: 0.00 (45) AL: 0.00 (-41) DG: 0.00 (-12) DL: 0.00 (43) | ||
| Intron 1 | c.53+8023G>A | not reported | Suspicion of CF:1 | 0.000119 | AG: 0.00 (14) AL: 0.00 (-37) DG: 0.00 (13) DL: 0.00 (-25) | ||
| Intron 1 | c.53+8741A>C | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.555843 | AG: 0.00 (-15) AL: 0.00 (46) DG: 0.00 (17) DL: 0.01 (46) | ||
| Intron 1 | c.53+8923dupA | not reported | Suspicion of CF:1 | 0.000187 | AG: 0.00 (-4) AL: 0.00 (13) DG: 0.00 (-50) DL: 0.00 (12) | ||
| Intron 1 | c.53+897A>T | not reported | CFTR-RD:1 | - | AG: 0.00 (-1) AL: 0.00 (-50) DG: 0.00 (7) DL: 0.00 (10) | ||
| Intron 1 | c.53+9067G>A | not reported | CFTR-RD:1 Suspicion of CF:2 | 0.002165 | AG: 0.00 (-24) AL: 0.05 (16) DG: 0.00 (-11) DL: 0.00 (16) | ||
| Intron 1 | c.53+9203T>C | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.55843 | AG: 0.00 (-4) AL: 0.00 (-24) DG: 0.03 (-4) DL: 0.05 (-24) | ||
| Intron 1 | c.53+9290A>G | not reported | Asymptomatic:11 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:21 | 0.30593 | AG: 0.00 (-27) AL: 0.00 (21) DG: 0.00 (23) DL: 0.00 (-10) | ||
| Intron 1 | c.53+9361T>G | not reported | Asymptomatic:1 | 7.7e-05 | AG: 0.00 (-50) AL: 0.00 (18) DG: 0.00 (-48) DL: 0.00 (18) | ||
| Intron 1 | c.53+9519_53+9528del10 | not reported | Asymptomatic:1 | - | - | ||
| Intron 1 | c.54-10249C>T | not reported | CFTR-RD:1 | 4.2e-05 | AG: 0.00 (25) AL: 0.00 (-40) DG: 0.00 (-41) DL: 0.00 (34) | ||
| Intron 1 | c.54-10266G>T | not reported | CFTR-RD:1 | - | AG: 0.00 (42) AL: 0.00 (-47) DG: 0.00 (-24) DL: 0.00 (37) | ||
| Intron 1 | c.54-10587T>C | not reported | Asymptomatic:4 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.104523 | AG: 0.00 (36) AL: 0.00 (9) DG: 0.00 (36) DL: 0.00 (-23) | ||
| Intron 1 | c.54-10641C>T | not reported | Asymptomatic:2 | 1.4e-05 | AG: 0.00 (-2) AL: 0.00 (-31) DG: 0.00 (-33) DL: 0.00 (0) | ||
| Intron 1 | c.54-10855G>A | not reported | Asymptomatic:1 | 7e-06 | AG: 0.00 (5) AL: 0.00 (1) DG: 0.00 (-28) DL: 0.00 (13) | ||
| 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.54-10943G>A | not reported | CF:2 CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | 0.002181 | AG: 0.00 (20) AL: 0.00 (1) DG: 0.00 (-26) DL: 0.00 (1) | ||
| Intron 1 | c.54-11104dupA | not reported | Suspicion of CF:1 | 2.8e-05 | AG: 0.00 (4) AL: 0.00 (-6) DG: 0.00 (-9) DL: 0.00 (-3) | ||
| Intron 1 | c.54-11388A>G | not reported | Asymptomatic:10 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:18 | 0.19194 | AG: 0.00 (1) AL: 0.00 (46) DG: 0.00 (27) DL: 0.00 (-13) | ||
| 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.54-1437C>T | not reported | Suspicion of CF:1 | 0.00037 | AG: 0.00 (-48) AL: 0.00 (-18) DG: 0.00 (-48) DL: 0.00 (34) | ||
| Intron 1 | c.54-240A>G | not reported | CF:1 CFTR-RD:1 Suspicion of CF:1 | 0.008599 | AG: 0.00 (44) AL: 0.00 (29) DG: 0.00 (-1) DL: 0.00 (-3) | ||
| Intron 1 | c.54-2477C>A | not reported | Asymptomatic:2 CF:2 Suspicion of CF:2 | 0.063447 | AG: 0.00 (6) AL: 0.00 (24) DG: 0.00 (-11) DL: 0.00 (17) | ||
| Intron 1 | c.54-2481G>A | not reported | CF:1 Suspicion of CF:3 | 0.126032 | AG: 0.00 (4) AL: 0.00 (1) DG: 0.00 (-40) DL: 0.00 (21) | ||
| Intron 1 | c.54-2484_54-2482dupAAA | not reported | Suspicion of CF:2 | 0.000655 | - | ||
| Intron 1 | c.54-2489_54-2482dup8 | not reported | Suspicion of CF:1 | 0.026059 | AG: 0.00 (-28) AL: 0.00 (3) DG: 0.00 (-15) DL: 0.00 (0) | ||
| Intron 1 | c.54-2542C>T | not reported | CF:1 | 0.003785 | AG: 0.00 (8) AL: 0.00 (21) DG: 0.00 (-29) DL: 0.00 (-23) | ||
| Intron 1 | c.54-2647G>T | not reported | CF:1 Suspicion of CF:2 | 0.002516 | AG: 0.00 (28) AL: 0.00 (-7) DG: 0.00 (-2) DL: 0.00 (-14) | ||
| Intron 1 | c.54-3001C>A | not reported | Asymptomatic:2 CFTR-RD:1 | 0.00021 | AG: 0.00 (-17) AL: 0.00 (9) DG: 0.00 (47) DL: 0.00 (9) | ||
| Intron 1 | c.54-3673G>A | not reported | Asymptomatic:5 CF:2 CFTR-RD:2 Pending (NBS):1 Suspicion of CF:4 | 0.055651 | AG: 0.00 (2) AL: 0.00 (6) DG: 0.00 (-11) DL: 0.00 (43) | ||
| Intron 1 | c.54-3739T>C | not reported | Asymptomatic:1 | - | AG: 0.00 (-9) AL: 0.00 (-42) DG: 0.00 (-14) DL: 0.00 (11) | ||
| Intron 1 | c.54-3873A>G | not reported | Asymptomatic:1 | - | AG: 0.00 (49) AL: 0.00 (-48) DG: 0.00 (49) DL: 0.00 (1) | ||
| Intron 1 | c.54-3874C>T | not reported | Asymptomatic:1 | - | AG: 0.00 (3) AL: 0.00 (-47) DG: 0.00 (-2) DL: 0.00 (2) | ||
| Intron 1 | c.54-3936G>A | not reported | Asymptomatic:2 CF:4 CFTR-RD:2 Suspicion of CF:1 | - | AG: 0.00 (15) AL: 0.00 (-16) DG: 0.00 (15) DL: 0.00 (-16) | ||
| Intron 1 | c.54-3937T>C | not reported | Asymptomatic:3 CF:5 CFTR-RD:1 Suspicion of CF:1 | 0 | AG: 0.00 (-9) AL: 0.00 (16) DG: 0.00 (-9) DL: 0.00 (16) | ||
| Intron 1 | c.54-3942delA | not reported | - | - | |||
| 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.54-3948delA | not reported | - | - | |||
| Intron 1 | c.54-3949delG | not reported | - | - | |||
| Intron 1 | c.54-3950dupT | not reported | Suspicion of CF:1 | - | - | ||
| Intron 1 | c.54-3950_54-3949delTG | not reported | - | - | |||
| Intron 1 | c.54-4180A>G | not reported | Pending (NBS):2 | 0.009692 | AG: 0.00 (-7) AL: 0.00 (-29) DG: 0.00 (38) DL: 0.00 (10) | ||
| Intron 1 | c.54-4212C>T | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.224956 | AG: 0.00 (4) AL: 0.00 (-24) DG: 0.00 (-35) DL: 0.00 (-25) | ||
| Intron 1 | c.54-4602G>C | not reported | CF:2 Suspicion of CF:1 | 0.001181 | AG: 0.00 (5) AL: 0.00 (-44) DG: 0.00 (5) DL: 0.00 (-1) | ||
| Intron 1 | c.54-4769C>A | not reported | Suspicion of CF:1 | 0.006273 | AG: 0.00 (33) AL: 0.00 (15) DG: 0.00 (31) DL: 0.00 (-10) | ||
| Intron 1 | c.54-4792_54-4791delGT | not reported | Asymptomatic:3 CF:2 CFTR-RD:2 Infertility:1 Suspicion of CF:3 | 8e-06 | AG: 0.00 (-24) AL: 0.00 (-6) DG: 0.00 (5) DL: 0.00 (3) | ||
| Intron 1 | c.54-4792_54-4791dupGT | not reported | Asymptomatic:3 Pending (NBS):2 Suspicion of CF:3 | 0.054235 | - | ||
| Intron 1 | c.54-4792_54-4791insCGTGTG | not reported | Asymptomatic:1 | - | - | ||
| Intron 1 | c.54-4794_54-4791dupGTGT | not reported | Asymptomatic:3 CF:1 CFTR-RD:2 Pending (NBS):1 | - | - | ||
| Intron 1 | c.54-4796_54-4791dup6 | not reported | Asymptomatic:6 CF:9 CFTR-RD:10 Pending (NBS):11 Suspicion of CF:7 | 0.159108 | - | ||
| Intron 1 | c.54-4798_54-4791del8 | not reported | Suspicion of CF:1 | 8e-06 | - | ||
| Intron 1 | c.54-4798_54-4791dup8 | not reported | Asymptomatic:2 CF:2 Suspicion of CF:1 | 0.025553 | - | ||
| Intron 1 | c.54-4800_54-4791dup10 | not reported | CF:2 CFTR-RD:3 | 0.119438 | - | ||
| Intron 1 | c.54-4802_54-4791dup12 | not reported | Asymptomatic:2 CFTR-RD:1 Suspicion of CF:1 | - | - | ||
| Intron 1 | c.54-4804_54-4791dup14 | not reported | CF:1 CFTR-RD:3 Infertility:1 Pending (NBS):2 Suspicion of CF:2 | 0.069525 | - | ||
| Intron 1 | c.54-5047A>G | not reported | Suspicion of CF:1 | 9.1e-05 | AG: 0.00 (-35) AL: 0.00 (2) DG: 0.00 (9) DL: 0.00 (-7) | ||
| Intron 1 | c.54-5067C>T | not reported | CFTR-RD:1 | 0.038106 | AG: 0.00 (-15) AL: 0.00 (-16) DG: 0.00 (29) DL: 0.00 (-11) | ||
| Intron 1 | c.54-5360A>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:15 | 0.24698 | AG: 0.00 (-45) AL: 0.00 (2) DG: 0.00 (13) DL: 0.00 (-7) | ||
| Intron 1 | c.54-5422dupT | not reported | Asymptomatic:11 CF:7 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:7 | 0.007614 | AG: 0.00 (32) AL: 0.00 (22) DG: 0.00 (22) DL: 0.00 (16) | ||
| Intron 1 | c.54-6168A>G | not reported | CF:2 Suspicion of CF:1 | 0.000377 | AG: 0.00 (1) AL: 0.00 (5) DG: 0.00 (-26) DL: 0.00 (5) | ||
| Intron 1 | c.54-6620G>C | not reported | CFTR-RD:1 | 2.1e-05 | AG: 0.00 (-7) AL: 0.00 (1) DG: 0.00 (10) DL: 0.00 (-1) | ||
| Intron 1 | c.54-6848_54-6841del8 | not reported | Asymptomatic:1 | - | - | ||
| Intron 1 | c.54-6907A>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:17 | 0.247802 | AG: 0.00 (31) AL: 0.00 (2) DG: 0.00 (-6) DL: 0.00 (-49) | ||
| Intron 1 | c.54-6935C>T | not reported | Asymptomatic:1 | - | AG: 0.00 (16) AL: 0.00 (22) DG: 0.00 (-6) DL: 0.00 (22) | ||
| Intron 1 | c.54-705C>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.247877 | AG: 0.00 (1) AL: 0.00 (-28) DG: 0.00 (-15) DL: 0.00 (1) | ||
| Intron 1 | c.54-7344dupT | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.007666 | AG: 0.00 (-36) AL: 0.00 (-16) DG: 0.00 (-5) DL: 0.00 (-36) | ||
| Intron 1 | c.54-7449T>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:17 | 0.246962 | AG: 0.00 (0) AL: 0.00 (44) DG: 0.00 (14) DL: 0.00 (-6) | ||
| Intron 1 | c.54-7459_54-7449del11 | not reported | Asymptomatic:1 | - | - | ||
| Intron 1 | c.54-7589A>T | not reported | Suspicion of CF:1 | 0.022967 | AG: 0.00 (32) AL: 0.00 (-17) DG: 0.00 (-48) DL: 0.00 (-45) | ||
| Intron 1 | c.54-8089dupT | not reported | Asymptomatic:13 CF:13 CFTR-RD:11 Pending (NBS):13 Suspicion of CF:13 | 0.130053 | AG: 0.00 (31) AL: 0.00 (41) DG: 0.00 (-48) DL: 0.00 (33) | ||
| Intron 1 | c.54-8288C>T | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.005816 | AG: 0.00 (10) AL: 0.00 (-29) DG: 0.00 (-31) DL: 0.00 (24) | ||
| Intron 1 | c.54-8604_54-8603dupAC | not reported | CFTR-RD:1 | 0.000831 | - | ||
| Intron 1 | c.54-877A>G | not reported | Suspicion of CF:1 | 0.021169 | AG: 0.00 (0) AL: 0.00 (4) DG: 0.00 (41) DL: 0.00 (-26) | ||
| Intron 1 | c.54-9095C>T | not reported | Asymptomatic:11 CF:13 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:13 | 0.061048 | AG: 0.00 (42) AL: 0.00 (-38) DG: 0.00 (-16) DL: 0.00 (37) | ||
| Intron 1 | c.54-9282G>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:12 Pending (NBS):15 Suspicion of CF:17 | 0.226393 | AG: 0.00 (15) AL: 0.00 (1) DG: 0.00 (-47) DL: 0.00 (-1) | ||
| Intron 1 | c.54-9643A>C | not reported | Pending (NBS):1 | 7e-06 | AG: 0.00 (-3) AL: 0.00 (2) DG: 0.00 (42) DL: 0.00 (-19) | ||
| Intron 1 | c.54-9673G>A | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.231319 | AG: 0.00 (27) AL: 0.00 (32) DG: 0.00 (7) DL: 0.00 (11) | ||
| Intron 1 | c.54-9790C>G | not reported | Asymptomatic:14 CF:13 CFTR-RD:12 Pending (NBS):14 Suspicion of CF:11 | 0.248426 | AG: 0.00 (-12) AL: 0.00 (17) DG: 0.00 (22) DL: 0.00 (17) | ||
| 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 2 | c.164+1G>C | 296+1G>C | disease-causing | CF:1 | - | - | |
| Intron 2 | c.165-2A>C | disease-causing | CF:1 | - | - | ||
| Intron 2 | c.165-2A>G | 297-2A>G | disease-causing | - | - | ||
| Intron 2 | c.165-3C>T | 297-3C>T | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Intron 2 | c.164+28A>G | 296+ 28A- >G | VUS | Asymptomatic:1 | - | - | |
| Intron 2 | c.164+1484A>C | not reported | Asymptomatic:1 CFTR-RD:1 | 0.000314 | AG: 0.07 (37) AL: 0.00 (2) DG: 0.00 (37) DL: 0.00 (-4) | ||
| Intron 2 | c.164+1491A>G | not reported | CFTR-RD:1 | - | AG: 0.00 (-15) AL: 0.04 (30) DG: 0.00 (-6) DL: 0.00 (-11) | ||
| Intron 2 | c.164+1603G>C | not reported | CF:1 CFTR-RD:1 Suspicion of CF:1 | 0.00687 | AG: 0.00 (12) AL: 0.00 (7) DG: 0.00 (7) DL: 0.00 (-11) | ||
| Intron 2 | c.164+1751G>A | not reported | Asymptomatic:1 Suspicion of CF:4 | 0.005926 | AG: 0.00 (-27) AL: 0.00 (-45) DG: 0.00 (-3) DL: 0.00 (-45) | ||
| Intron 2 | c.164+1976T>C | not reported | Asymptomatic:13 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.246179 | AG: 0.00 (-47) AL: 0.00 (-34) DG: 0.00 (34) DL: 0.00 (-34) | ||
| Intron 2 | c.164+2031T>C | not reported | Asymptomatic:9 CF:11 CFTR-RD:10 Pending (NBS):14 Suspicion of CF:10 | 0.247806 | AG: 0.00 (-45) AL: 0.00 (34) DG: 0.00 (28) DL: 0.00 (-13) | ||
| Intron 2 | c.164+208T>C | not reported | Asymptomatic:1 CFTR-RD:1 | 0.002237 | AG: 0.00 (32) AL: 0.00 (20) DG: 0.00 (32) DL: 0.00 (6) | ||
| Intron 2 | c.164+408_164+410dupAAA | not reported | Suspicion of CF:1 | - | - | ||
| Intron 2 | c.164+409_164+410dupAA | not reported | Asymptomatic:2 CFTR-RD:3 Suspicion of CF:2 | 0.188819 | - | ||
| Intron 2 | c.164+410dupA | not reported | Asymptomatic:1 CF:2 CFTR-RD:4 | 0.14979 | AG: 0.00 (2) AL: 0.00 (14) DG: 0.00 (-26) DL: 0.00 (13) | ||
| Intron 2 | c.164+416A>T | not reported | Suspicion of CF:1 | 8.4e-05 | AG: 0.00 (-49) AL: 0.00 (-7) DG: 0.00 (-49) DL: 0.00 (-1) | ||
| Intron 2 | c.164+507dupT | not reported | Asymptomatic:1 CF:1 CFTR-RD:2 | 0.011745 | AG: 0.00 (35) AL: 0.00 (37) DG: 0.00 (37) DL: 0.00 (16) | ||
| Intron 2 | c.164+685T>C | not reported | Asymptomatic:1 CFTR-RD:1 | 0.014064 | AG: 0.00 (9) AL: 0.00 (49) DG: 0.00 (9) DL: 0.00 (-18) | ||
| Intron 2 | c.165-1423C>G | not reported | CFTR-RD:1 Pending (NBS):1 | 0.001314 | AG: 0.00 (13) AL: 0.00 (-16) DG: 0.00 (-32) DL: 0.00 (-8) | ||
| Intron 2 | c.165-1541C>T | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.226044 | AG: 0.00 (3) AL: 0.00 (1) DG: 0.00 (-14) DL: 0.00 (-4) | ||
| Intron 2 | c.165-1588C>G | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:34 | 0.575718 | AG: 0.00 (-8) AL: 0.00 (2) DG: 0.00 (0) DL: 0.00 (-29) | ||
| Intron 2 | c.165-1883T>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.232074 | AG: 0.00 (22) AL: 0.04 (16) DG: 0.00 (-33) DL: 0.00 (-2) | ||
| Intron 2 | c.165-188G>A | not reported | CFTR-RD:1 Pending (NBS):1 | 0.001026 | AG: 0.00 (-14) AL: 0.00 (-1) DG: 0.00 (40) DL: 0.00 (23) | ||
| Intron 2 | c.165-2037G>T | not reported | CF:1 | - | AG: 0.00 (-3) AL: 0.00 (-13) DG: 0.00 (-2) DL: 0.00 (-1) | ||
| Intron 2 | c.165-2072C>T | not reported | Pending (NBS):1 | 0.000454 | AG: 0.00 (22) AL: 0.01 (-27) DG: 0.00 (-2) DL: 0.00 (-37) | ||
| Intron 2 | c.165-2151G>C | not reported | Suspicion of CF:1 | 0.01079 | AG: 0.00 (5) AL: 0.00 (-3) DG: 0.00 (-27) DL: 0.00 (-1) | ||
| Intron 3 | c.273+46T>G | 405+46G/T | non disease-causing | CFTR-RD:1 | - | - | |
| Intron 3 | c.273+1G>A | 405+1G>A | disease-causing | CF:2 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Intron 3 | c.274-1G>C | 406-1G>C | disease-causing | CF:1 | - | - | |
| Intron 3 | c.274-1G>T | 406-1G>T | disease-causing | CF:2 | - | - | |
| Intron 3 | c.274-2A>G | 406- 2A- >G | disease-causing | CF:2 | - | - | |
| Intron 3 | c.274-3397_489+710del | dele4 | disease-causing | CF:1 | - | - | |
| Intron 3 | c.273+27A>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 3 | c.273+4A>G | 405+ 4A- >G | VUS | Pending:2 | - | - | |
| Intron 3 | c.274-6T>C | 406-6T>C | VUS | Asymptomatic:2 CFTR-RD:4 | - | - | |
| Intron 3 | c.273+10460A>G | not reported | Suspicion of CF:1 | 0.09256 | AG: 0.00 (-15) AL: 0.00 (29) DG: 0.00 (-1) DL: 0.00 (3) | ||
| Intron 3 | c.273+1108T>G | not reported | CF:1 | 9.1e-05 | AG: 0.00 (33) AL: 0.00 (4) DG: 0.00 (4) DL: 0.00 (-25) | ||
| Intron 3 | c.273+1116C>T | not reported | Asymptomatic:3 CF:2 CFTR-RD:1 Suspicion of CF:9 | 0.021796 | AG: 0.00 (25) AL: 0.00 (-4) DG: 0.00 (-33) DL: 0.00 (-4) | ||
| Intron 3 | c.273+1205_273+1215del11 | not reported | CFTR-RD:1 | - | - | ||
| Intron 3 | c.273+1433C>T | not reported | CFTR-RD:1 | - | AG: 0.00 (-1) AL: 0.00 (0) DG: 0.00 (-2) DL: 0.00 (-44) | ||
| Intron 3 | c.273+1708C>A | not reported | Asymptomatic:2 Pending (NBS):1 Suspicion of CF:1 | 0.018988 | AG: 0.00 (26) AL: 0.00 (3) DG: 0.00 (24) DL: 0.00 (-10) | ||
| Intron 3 | c.273+2020A>C | not reported | CFTR-RD:1 | 0.039106 | AG: 0.00 (-16) AL: 0.00 (2) DG: 0.00 (26) DL: 0.00 (0) | ||
| Intron 3 | c.273+2632A>C | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.565919 | AG: 0.00 (27) AL: 0.00 (2) DG: 0.00 (-44) DL: 0.00 (-26) | ||
| 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+2955G>C | not reported | CFTR-RD:1 Pending (NBS):1 | 0.009101 | AG: 0.00 (29) AL: 0.00 (-40) DG: 0.00 (-7) DL: 0.00 (33) | ||
| Intron 3 | c.273+3213C>T | not reported | CFTR-RD:1 | 0.038202 | AG: 0.00 (-18) AL: 0.00 (-20) DG: 0.00 (-43) DL: 0.00 (41) | ||
| Intron 3 | c.273+3449A>C | not reported | Infertility:1 | 0 | AG: 0.00 (15) AL: 0.00 (-23) DG: 0.00 (15) DL: 0.00 (19) | ||
| Intron 3 | c.273+3479G>A | not reported | Asymptomatic:3 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.10863 | AG: 0.00 (-15) AL: 0.00 (35) DG: 0.00 (-3) DL: 0.00 (17) | ||
| Intron 3 | c.273+3513delG | not reported | - | - | |||
| Intron 3 | c.273+3513_273+3514delGA | not reported | - | - | |||
| Intron 3 | c.273+4197T>C | not reported | Asymptomatic:1 | 7e-05 | AG: 0.00 (3) AL: 0.00 (-2) DG: 0.00 (2) DL: 0.00 (-2) | ||
| Intron 3 | c.273+4309dupA | not reported | Asymptomatic:22 CF:13 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:13 | 0.535081 | AG: 0.00 (-43) AL: 0.00 (-33) DG: 0.00 (-38) DL: 0.00 (-34) | ||
| Intron 3 | c.273+4963G>A | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.231253 | AG: 0.00 (12) AL: 0.00 (-26) DG: 0.00 (-49) DL: 0.00 (18) | ||
| Intron 3 | c.273+5039dupT | not reported | Asymptomatic:4 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:3 | 0.104937 | AG: 0.00 (44) AL: 0.00 (45) DG: 0.00 (44) DL: 0.00 (49) | ||
| Intron 3 | c.273+5241C>T | not reported | Suspicion of CF:1 | 0.006418 | AG: 0.00 (11) AL: 0.00 (9) DG: 0.00 (11) DL: 0.00 (9) | ||
| Intron 3 | c.273+5646G>A | not reported | CF:1 Suspicion of CF:1 | 0.010684 | AG: 0.00 (-9) AL: 0.00 (18) DG: 0.00 (-9) DL: 0.00 (18) | ||
| Intron 3 | c.273+565T>C | not reported | Asymptomatic:31 CF:20 CFTR-RD:23 Infertility:2 Pending (NBS):17 Suspicion of CF:41 | 1 | AG: 0.00 (-16) AL: 0.00 (49) DG: 0.00 (35) DL: 0.00 (49) | ||
| Intron 3 | c.273+5802A>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.232318 | AG: 0.00 (21) AL: 0.00 (-34) DG: 0.00 (29) DL: 0.00 (1) | ||
| Intron 3 | c.273+6228G>A | not reported | Asymptomatic:1 | - | AG: 0.00 (2) AL: 0.00 (6) DG: 0.00 (-39) DL: 0.00 (0) | ||
| Intron 3 | c.273+6381G>A | not reported | Suspicion of CF:1 | 0.000901 | AG: 0.00 (32) AL: 0.00 (-1) DG: 0.00 (-19) DL: 0.00 (-39) | ||
| Intron 3 | c.273+6454G>C | not reported | CFTR-RD:1 | 0.038265 | AG: 0.00 (20) AL: 0.00 (1) DG: 0.00 (20) DL: 0.00 (-18) | ||
| Intron 3 | c.273+6647A>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:12 Pending (NBS):15 Suspicion of CF:16 | 0.248535 | AG: 0.00 (1) AL: 0.00 (45) DG: 0.00 (-5) DL: 0.00 (-10) | ||
| Intron 3 | c.273+7020G>A | not reported | CFTR-RD:1 | 0.038163 | AG: 0.00 (4) AL: 0.00 (-26) DG: 0.00 (-3) DL: 0.00 (44) | ||
| Intron 3 | c.273+7101delT | not reported | CF:2 | 0.00119 | AG: 0.00 (-7) AL: 0.00 (-25) DG: 0.00 (-8) DL: 0.00 (-27) | ||
| Intron 3 | c.273+7145T>C | not reported | Asymptomatic:11 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:21 | 0.309198 | AG: 0.00 (16) AL: 0.00 (17) DG: 0.00 (-7) DL: 0.00 (-12) | ||
| Intron 3 | c.273+7470G>A | not reported | Asymptomatic:1 | - | AG: 0.00 (-27) AL: 0.00 (-43) DG: 0.00 (30) DL: 0.00 (-45) | ||
| Intron 3 | c.273+7616_273+7624del9 | not reported | Suspicion of CF:1 | - | - | ||
| Intron 3 | c.273+7727T>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:12 Pending (NBS):15 Suspicion of CF:16 | 0.22618 | AG: 0.00 (-5) AL: 0.00 (5) DG: 0.00 (-5) DL: 0.00 (9) | ||
| Intron 3 | c.273+7828A>C | not reported | CF:1 | 7e-06 | AG: 0.00 (16) AL: 0.00 (10) DG: 0.00 (43) DL: 0.00 (0) | ||
| Intron 3 | c.273+7919G>C | not reported | - | AG: 0.00 (-47) AL: 0.46 (0) DG: 0.00 (-35) DL: 0.00 (-48) | |||
| Intron 3 | c.273+7956G>A | not reported | 2.8e-05 | AG: 0.00 (2) AL: 0.16 (-37) DG: 0.00 (2) DL: 0.00 (45) | |||
| Intron 3 | c.273+8103C>T | not reported | Suspicion of CF:1 | 0.001225 | AG: 0.00 (48) AL: 0.00 (-18) DG: 0.00 (-13) DL: 0.00 (46) | ||
| 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 | - | ||
| Intron 3 | c.273+86T>G | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.017495 | AG: 0.00 (-18) AL: 0.00 (3) DG: 0.00 (2) DL: 0.00 (-6) | ||
| Intron 3 | c.273+879C>A | not reported | Asymptomatic:15 CF:14 CFTR-RD:12 Pending (NBS):15 Suspicion of CF:16 | 0.231978 | AG: 0.00 (-8) AL: 0.00 (7) DG: 0.00 (37) DL: 0.00 (-10) | ||
| Intron 3 | c.273+8889G>C | not reported | Asymptomatic:1 | - | AG: 0.00 (9) AL: 0.00 (47) DG: 0.00 (9) DL: 0.00 (-37) | ||
| 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) | ||
| Intron 3 | c.273+9019G>C | not reported | Infertility:1 | 0.019349 | AG: 0.00 (-49) AL: 0.00 (-17) DG: 0.00 (18) DL: 0.00 (-7) | ||
| Intron 3 | c.273+922G>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.247523 | AG: 0.00 (10) AL: 0.00 (-6) DG: 0.00 (10) DL: 0.00 (-6) | ||
| Intron 3 | c.273+933C>T | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.247708 | AG: 0.00 (-1) AL: 0.00 (-17) DG: 0.00 (-2) DL: 0.00 (7) | ||
| Intron 3 | c.273+93_273+103del11 | not reported | Suspicion of CF:1 | - | - | ||
| Intron 3 | c.273+9444A>G | not reported | CFTR-RD:1 | 0.023504 | AG: 0.00 (-1) AL: 0.00 (30) DG: 0.00 (-1) DL: 0.00 (30) | ||
| Intron 3 | c.273+9446A>G | not reported | Asymptomatic:24 CF:19 CFTR-RD:19 Infertility:1 Pending (NBS):14 Suspicion of CF:31 | 0.427949 | AG: 0.00 (-4) AL: 0.00 (28) DG: 0.00 (-1) DL: 0.00 (28) | ||
| Intron 3 | c.273+9446_273+9447delAT | not reported | Asymptomatic:6 CF:7 CFTR-RD:4 Infertility:1 Pending (NBS):4 Suspicion of CF:4 | 3.7e-05 | AG: 0.00 (47) AL: 0.00 (15) DG: 0.00 (49) DL: 0.00 (20) | ||
| Intron 3 | c.273+9446_273+9447dupAT | not reported | Asymptomatic:2 CF:1 CFTR-RD:1 Suspicion of CF:5 | - | - | ||
| Intron 3 | c.273+9452_273+9453dupGT | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 Suspicion of CF:1 | 0.013285 | - | ||
| Intron 3 | c.274-10489A>C | not reported | CF:1 | 0.000337 | AG: 0.00 (-36) AL: 0.00 (48) DG: 0.00 (-9) DL: 0.00 (-15) | ||
| Intron 3 | c.274-10617dupT | not reported | Suspicion of CF:2 | 0.019693 | AG: 0.00 (44) AL: 0.00 (-48) DG: 0.00 (-5) DL: 0.00 (-20) | ||
| Intron 3 | c.274-10690T>C | not reported | Asymptomatic:1 | 0.000147 | AG: 0.00 (8) AL: 0.00 (22) DG: 0.00 (36) DL: 0.00 (-40) | ||
| Intron 3 | c.274-1352T>A | not reported | Asymptomatic:13 CF:13 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:12 | 0.22349 | AG: 0.00 (2) AL: 0.00 (10) DG: 0.00 (25) DL: 0.00 (-38) | ||
| Intron 3 | c.274-179G>A | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.249024 | AG: 0.00 (14) AL: 0.00 (1) DG: 0.00 (14) DL: 0.00 (-10) | ||
| Intron 3 | c.274-4164C>T | not reported | Suspicion of CF:1 | 0 | AG: 0.00 (19) AL: 0.00 (-35) DG: 0.00 (1) DL: 0.00 (-35) | ||
| Intron 3 | c.274-4337A>G | not reported | Asymptomatic:3 CF:1 CFTR-RD:1 | 0.069982 | AG: 0.00 (1) AL: 0.00 (10) DG: 0.00 (-1) DL: 0.00 (10) | ||
| Intron 3 | c.274-4549T>C | not reported | Asymptomatic:4 CF:4 CFTR-RD:2 Suspicion of CF:3 | 0.205412 | AG: 0.00 (-32) AL: 0.00 (11) DG: 0.00 (12) DL: 0.00 (-2) | ||
| Intron 3 | c.274-4888T>C | not reported | Asymptomatic:4 CF:6 CFTR-RD:3 Suspicion of CF:3 | 0.547301 | AG: 0.00 (0) AL: 0.00 (45) DG: 0.00 (5) DL: 0.00 (27) | ||
| Intron 3 | c.274-4940T>C | not reported | Asymptomatic:3 CF:2 CFTR-RD:1 | 0.098768 | AG: 0.00 (-4) AL: 0.00 (5) DG: 0.00 (37) DL: 0.00 (-22) | ||
| Intron 3 | c.274-516A>G | not reported | Asymptomatic:1 Suspicion of CF:3 | 0.114022 | AG: 0.00 (-43) AL: 0.00 (40) DG: 0.00 (39) DL: 0.00 (-27) | ||
| Intron 3 | c.274-517C>T | not reported | Asymptomatic:2 CFTR-RD:1 | 0.000635 | AG: 0.00 (19) AL: 0.00 (41) DG: 0.00 (-31) DL: 0.00 (48) | ||
| Intron 3 | c.274-5606T>C | not reported | Asymptomatic:1 CFTR-RD:1 | - | AG: 0.00 (-8) AL: 0.00 (32) DG: 0.00 (31) DL: 0.00 (-8) | ||
| Intron 3 | c.274-560G>C | not reported | Pending (NBS):1 | 1.4e-05 | AG: 0.00 (-14) AL: 0.00 (1) DG: 0.00 (-40) DL: 0.00 (1) | ||
| Intron 3 | c.274-5806A>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.249112 | AG: 0.00 (4) AL: 0.00 (27) DG: 0.00 (-1) DL: 0.00 (6) | ||
| Intron 3 | c.274-5884C>T | not reported | CFTR-RD:1 Pending (NBS):1 | 0.000838 | AG: 0.00 (10) AL: 0.00 (-47) DG: 0.00 (-4) DL: 0.00 (17) | ||
| Intron 3 | c.274-5989_274-5981del9 | not reported | Pending (NBS):1 | - | - | ||
| Intron 3 | c.274-6090T>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.246212 | AG: 0.00 (-17) AL: 0.00 (-6) DG: 0.00 (15) DL: 0.00 (-2) | ||
| Intron 3 | c.274-6183G>A | not reported | Asymptomatic:11 CF:13 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:12 | 0.075427 | AG: 0.00 (10) AL: 0.00 (4) DG: 0.00 (-3) DL: 0.00 (39) | ||
| Intron 3 | c.274-6463C>T | not reported | Suspicion of CF:1 | 2.1e-05 | AG: 0.00 (-19) AL: 0.00 (41) DG: 0.00 (-8) DL: 0.00 (41) | ||
| Intron 3 | c.274-6491C>A | not reported | CF:1 | 0.004844 | AG: 0.00 (11) AL: 0.00 (20) DG: 0.00 (-36) DL: 0.00 (20) | ||
| Intron 3 | c.274-6492dupA | not reported | Asymptomatic:12 CF:6 CFTR-RD:12 Pending (NBS):9 Suspicion of CF:7 | 0.024286 | AG: 0.00 (25) AL: 0.00 (-13) DG: 0.00 (25) DL: 0.00 (36) | ||
| Intron 3 | c.274-6514T>C | not reported | Asymptomatic:11 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:21 | 0.320699 | AG: 0.00 (-49) AL: 0.00 (-7) DG: 0.00 (43) DL: 0.00 (-18) | ||
| Intron 3 | c.274-7230G>A | not reported | CF:1 | 7e-06 | AG: 0.00 (32) AL: 0.00 (4) DG: 0.00 (10) DL: 0.00 (-13) | ||
| Intron 3 | c.274-7279T>G | not reported | Asymptomatic:14 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.247787 | AG: 0.00 (-34) AL: 0.00 (-30) DG: 0.00 (-50) DL: 0.00 (36) | ||
| Intron 3 | c.274-7297C>A | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.017223 | AG: 0.00 (-16) AL: 0.00 (-38) DG: 0.00 (-3) DL: 0.00 (10) | ||
| Intron 3 | c.274-7337A>G | not reported | Asymptomatic:7 CF:7 CFTR-RD:8 Pending (NBS):11 Suspicion of CF:9 | 0.076335 | AG: 0.00 (-1) AL: 0.00 (2) DG: 0.00 (-12) DL: 0.00 (-43) | ||
| Intron 3 | c.274-7505dupT | not reported | Asymptomatic:19 CF:11 CFTR-RD:16 Pending (NBS):17 Suspicion of CF:9 | 0.232013 | AG: 0.00 (41) AL: 0.00 (21) DG: 0.00 (-1) DL: 0.00 (21) | ||
| Intron 3 | c.274-756C>T | not reported | Asymptomatic:1 | 0.005976 | AG: 0.00 (24) AL: 0.00 (13) DG: 0.00 (-33) DL: 0.00 (-32) | ||
| 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.274-7868T>A | not reported | Asymptomatic:11 CF:13 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:12 | 0.076297 | AG: 0.00 (-18) AL: 0.00 (31) DG: 0.00 (-43) DL: 0.00 (-49) | ||
| Intron 3 | c.274-7906T>A | not reported | Asymptomatic:10 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:20 | 0.207154 | AG: 0.00 (2) AL: 0.00 (20) DG: 0.00 (0) DL: 0.00 (-11) | ||
| Intron 3 | c.274-7920G>C | not reported | Asymptomatic:11 CF:13 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:12 | 0.076257 | AG: 0.00 (-8) AL: 0.00 (34) DG: 0.00 (3) DL: 0.00 (-16) | ||
| Intron 3 | c.274-7978T>C | not reported | Infertility:1 | 7e-06 | AG: 0.00 (50) AL: 0.00 (5) DG: 0.00 (42) DL: 0.00 (-2) | ||
| Intron 3 | c.274-7999A>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.226173 | AG: 0.00 (-12) AL: 0.00 (24) DG: 0.00 (-50) DL: 0.00 (-26) | ||
| Intron 3 | c.274-8353_274-8343del11 | not reported | Asymptomatic:1 | - | - | ||
| Intron 3 | c.274-848G>A | not reported | Asymptomatic:10 CF:12 CFTR-RD:8 Pending (NBS):13 Suspicion of CF:12 | 0.019405 | AG: 0.00 (36) AL: 0.00 (-2) DG: 0.00 (5) DL: 0.00 (29) | ||
| Intron 3 | c.274-8604G>C | not reported | Asymptomatic:1 | - | AG: 0.00 (-5) AL: 0.00 (47) DG: 0.00 (17) DL: 0.00 (0) | ||
| Intron 3 | c.274-8813T>C | not reported | Asymptomatic:1 | 0.002679 | AG: 0.00 (-7) AL: 0.00 (30) DG: 0.00 (-12) DL: 0.00 (30) | ||
| Intron 3 | c.274-8929T>C | not reported | CF:1 | 0.000112 | AG: 0.00 (-9) AL: 0.00 (-46) DG: 0.00 (39) DL: 0.00 (-47) | ||
| Intron 3 | c.274-9300T>G | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:26 | 0.565178 | AG: 0.00 (1) AL: 0.00 (27) DG: 0.00 (-1) DL: 0.00 (-40) | ||
| Intron 3 | c.274-9432A>C | not reported | CFTR-RD:1 Pending (NBS):1 | 0.001446 | AG: 0.00 (9) AL: 0.00 (2) DG: 0.00 (-18) DL: 0.00 (-8) | ||
| Intron 3 | c.274-9439T>C | not reported | Asymptomatic:1 | 0.003435 | AG: 0.00 (-10) AL: 0.00 (16) DG: 0.00 (-10) DL: 0.00 (-2) | ||
| 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.274-958T>A | not reported | Asymptomatic:1 | 3.5e-05 | AG: 0.00 (-45) AL: 0.00 (30) DG: 0.00 (46) DL: 0.00 (30) | ||
| Intron 3 | c.274-9716T>G | not reported | CFTR-RD:1 | 0.000363 | AG: 0.00 (-8) AL: 0.00 (8) DG: 0.00 (-5) DL: 0.00 (-33) | ||
| Intron 3 | c.274-9965A>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):14 Suspicion of CF:15 | 0.231272 | AG: 0.00 (-25) AL: 0.00 (-37) DG: 0.00 (-1) DL: 0.00 (4) | ||
| Intron 4 | c.489+1G>T | 621+1G>T | disease-causing | CF:16 CFTR-RD:2 Fetal bowel anomalies:1 Pending:2 | - | - | |
| Intron 4 | c.489+2T>C | 621+2T>C | disease-causing | CFTR-RD:1 | - | - | |
| Intron 4 | c.489+2T>G | 621+2T>G | disease-causing | CF:2 | - | - | |
| Intron 4 | c.489+3A>G | 621+3A>G | disease-causing | Asymptomatic:2 CF:1 CFTR-RD:1 Pending:1 | - | - | |
| Intron 4 | c.490-3T>G | disease-causing | CFTR-RD:1 | - | - | ||
| Intron 4 | c.489+33T>C | VUS | CFTR-RD:1 | - | - | ||
| Intron 4 | c.489+76T>C | VUS | CFTR-RD:1 | - | - | ||
| Intron 4 | c.490-165T>C | VUS | CFTR-RD:1 | - | - | ||
| Intron 4 | c.490-23_490-4del | VUS | CF:1 | - | - | ||
| Intron 4 | c.489+1053G>A | not reported | Asymptomatic:2 CFTR-RD:1 | 0.004553 | AG: 0.00 (46) AL: 0.00 (-8) DG: 0.00 (35) DL: 0.00 (-8) | ||
| Intron 4 | c.489+1089G>A | not reported | Asymptomatic:15 CF:14 CFTR-RD:12 Pending (NBS):15 Suspicion of CF:16 | 0.246611 | AG: 0.00 (49) AL: 0.00 (10) DG: 0.00 (-44) DL: 0.02 (-1) | ||
| Intron 4 | c.489+1101T>A | not reported | Asymptomatic:24 CF:18 CFTR-RD:19 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.56441 | AG: 0.00 (-12) AL: 0.00 (-2) DG: 0.00 (2) DL: 0.01 (-13) | ||
| Intron 4 | c.489+1172A>G | not reported | Asymptomatic:2 Pending (NBS):1 Suspicion of CF:1 | 0.018996 | AG: 0.00 (-34) AL: 0.00 (12) DG: 0.00 (-1) DL: 0.00 (-18) | ||
| Intron 4 | c.489+1487C>A | not reported | Asymptomatic:1 | 1.4e-05 | AG: 0.00 (2) AL: 0.00 (30) DG: 0.00 (2) DL: 0.00 (26) | ||
| Intron 4 | c.489+1563A>G | not reported | Asymptomatic:11 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:21 | 0.316 | AG: 0.00 (-3) AL: 0.00 (14) DG: 0.00 (34) DL: 0.00 (-50) | ||
| Intron 4 | c.489+240dupT | not reported | Asymptomatic:1 | 0.00048 | AG: 0.00 (0) AL: 0.00 (1) DG: 0.00 (0) DL: 0.00 (1) | ||
| Intron 4 | c.489+562_489+563insAACCCA | not reported | - | - | |||
| Intron 4 | c.489+564_489+565insAGAACCTACTCTGC | not reported | - | - | |||
| Intron 4 | c.489+586T>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:12 Pending (NBS):15 Suspicion of CF:16 | 0.226152 | AG: 0.00 (-13) AL: 0.00 (41) DG: 0.01 (18) DL: 0.00 (41) | ||
| Intron 4 | c.489+616T>A | not reported | Suspicion of CF:3 | 0.004516 | AG: 0.00 (45) AL: 0.00 (11) DG: 0.00 (33) DL: 0.00 (-12) | ||
| Intron 4 | c.489+91A>G | not reported | CF:1 Suspicion of CF:1 | 0.020424 | AG: 0.00 (27) AL: 0.00 (-3) DG: 0.00 (-46) DL: 0.00 (-3) | ||
| Intron 4 | c.490-1100T>C | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.565916 | AG: 0.00 (-41) AL: 0.00 (5) DG: 0.00 (15) DL: 0.00 (-12) | ||
| Intron 4 | c.490-1216T>C | not reported | Asymptomatic:4 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.1047 | AG: 0.00 (-2) AL: 0.00 (-42) DG: 0.00 (26) DL: 0.00 (-37) | ||
| Intron 4 | c.490-1274C>T | not reported | Asymptomatic:4 CF:3 CFTR-RD:4 Infertility:1 Pending (NBS):8 Suspicion of CF:3 | 0.036738 | AG: 0.00 (-31) AL: 0.00 (-2) DG: 0.00 (-31) DL: 0.00 (3) | ||
| Intron 4 | c.490-1547C>T | not reported | Asymptomatic:15 CF:14 CFTR-RD:12 Pending (NBS):15 Suspicion of CF:16 | 0.247633 | AG: 0.00 (43) AL: 0.00 (-38) DG: 0.00 (-18) DL: 0.00 (-5) | ||
| 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) | ||
| Intron 4 | c.490-263T>C | not reported | Suspicion of CF:1 | 0.010879 | AG: 0.00 (-11) AL: 0.00 (38) DG: 0.00 (-31) DL: 0.00 (-21) | ||
| Intron 4 | c.490-287_490-276del12 | not reported | CFTR-RD:1 | - | - | ||
| Intron 4 | c.490-698T>C | not reported | Asymptomatic:1 | 0.003665 | AG: 0.00 (43) AL: 0.00 (10) DG: 0.00 (50) DL: 0.00 (-31) | ||
| Intron 4 | c.490-784T>C | not reported | CF:1 | - | AG: 0.00 (-39) AL: 0.00 (11) DG: 0.00 (17) DL: 0.00 (-40) | ||
| Intron 4 | c.490-875T>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:15 | 0.231832 | AG: 0.00 (-50) AL: 0.00 (37) DG: 0.00 (-1) DL: 0.00 (-14) | ||
| Intron 5 | c.579+1G>T | 711+1G>T | disease-causing | CF:32 CFTR-RD:15 Fetal bowel anomalies:1 Pending:4 | - | - | |
| Intron 5 | c.579+3A>G | 711+3A>G | disease-causing | Asymptomatic:1 CF:3 CFTR-RD:6 Pending:2 | - | - | |
| Intron 5 | c.579+5G>A | 711+ 5G- >A | disease-causing | - | - | ||
| Intron 5 | c.580-1G>T | 712-1G>T | disease-causing | CF:3 CFTR-RD:1 | - | - | |
| Intron 5 | c.580-62T>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 5 | c.580-90C>T | VUS | - | - | |||
| Intron 5 | c.580-92T>A | 712-92T/A | VUS | CF:1 CFTR-RD:3 | - | - | |
| Intron 5 | c.579+372T>C | not reported | Pending (NBS):1 | 1.4e-05 | AG: 0.00 (40) AL: 0.00 (19) DG: 0.00 (19) DL: 0.00 (-18) | ||
| Intron 5 | c.579+385T>A | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:15 | 0.231968 | AG: 0.00 (11) AL: 0.00 (27) DG: 0.00 (-31) DL: 0.00 (43) | ||
| Intron 5 | c.580-114C>T | not reported | Suspicion of CF:1 | 0.000307 | AG: 0.00 (21) AL: 0.00 (-5) DG: 0.00 (21) DL: 0.00 (15) | ||
| Intron 5 | c.580-159G>A | not reported | Asymptomatic:11 CF:13 CFTR-RD:11 Pending (NBS):13 Suspicion of CF:12 | 0.119138 | AG: 0.00 (24) AL: 0.00 (-11) DG: 0.00 (8) DL: 0.00 (-5) | ||
| Intron 5 | c.580-168C>T | not reported | CFTR-RD:1 | - | AG: 0.00 (33) AL: 0.00 (49) DG: 0.00 (-8) DL: 0.00 (17) | ||
| Intron 6 | c.743+40A>G | 875+40A/G | non disease-causing | Asymptomatic:4 CF:3 CFTR-RD:4 Infertility:1 Pending (NBS):8 Suspicion of CF:3 | Asymptomatic:7 CF:34 CFTR-RD:52 Pending:2 | 0.036789 | AG: 0.00 (-37) AL: 0.00 (-40) DG: 0.00 (-40) DL: 0.00 (-13) |
| Intron 6 | c.744-33GATT[6] | TTGA repeats | non disease-causing | Asymptomatic:12 CF:281 CFTR-RD:259 Fetal bowel anomalies:2 Pending:41 | - | - | |
| Intron 6 | c.744-33GATT[7] | TTGA repeats | non disease-causing | Asymptomatic:7 CF:226 CFTR-RD:253 Fetal bowel anomalies:1 Pending:30 | - | - | |
| Intron 6 | c.744-33GATT[8] | TTGA repeats | non disease-causing | CF:5 CFTR-RD:18 Pending:7 | - | - | |
| Intron 6 | c.744-10_744-3del | 876-10del8 | VUS | CFTR-RD:1 | - | - | |
| Intron 6 | c.744-14_744-3del | 876-14del12 | VUS | CF:1 | - | - | |
| Intron 6 | c.744-33GATT[4] | VUS | CFTR-RD:1 | - | - | ||
| Intron 6 | c.743+135_743+136dupTT | not reported | Suspicion of CF:1 | - | AG: 0.00 (30) AL: 0.00 (-50) DG: 0.00 (30) DL: 0.00 (-21) | ||
| Intron 6 | c.743+136dupT | not reported | Asymptomatic:3 CF:1 CFTR-RD:6 Pending (NBS):5 Suspicion of CF:3 | - | - | ||
| Intron 6 | c.743+248G>A | not reported | Infertility:1 | 2.8e-05 | AG: 0.00 (2) AL: 0.00 (-29) DG: 0.00 (2) DL: 0.00 (-29) | ||
| Intron 6 | c.743+326T>A | not reported | Asymptomatic:5 CF:2 CFTR-RD:10 Infertility:1 Pending (NBS):10 Suspicion of CF:14 | 0.178655 | AG: 0.00 (-21) AL: 0.00 (-1) DG: 0.00 (32) DL: 0.00 (-2) | ||
| Intron 6 | c.744-354A>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.231311 | AG: 0.00 (1) AL: 0.00 (23) DG: 0.00 (-1) DL: 0.00 (-44) | ||
| Intron 6 | c.744-496A>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.231251 | AG: 0.00 (34) AL: 0.00 (10) DG: 0.00 (16) DL: 0.00 (10) | ||
| Intron 6 | c.744-9_744-6delGATT | TTGA repeats | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 7e-06 | AG: 0.05 (6) AL: 0.01 (2) DG: 0.00 (6) DL: 0.00 (34) | |
| Intron 7 | c.869+11C>T | 1001+11C/T | non disease-causing | Asymptomatic:11 CF:13 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:12 | Asymptomatic:11 CF:262 CFTR-RD:353 Fetal bowel anomalies:2 Pending:56 | 0.075448 | AG: 0.00 (-41) AL: 0.00 (-11) DG: 0.00 (-7) DL: 0.00 (16) |
| Intron 7 | c.869+5G>A | disease-causing | CF:1 | - | - | ||
| Intron 7 | c.870-1113_870-1110del | disease-causing | CF:22 CFTR-RD:11 Pending:1 | - | - | ||
| Intron 7 | c.870-12T>A | disease-causing | CF:2 | - | - | ||
| Intron 7 | c.869+5G>T | VUS | CFTR-RD:1 | - | - | ||
| Intron 7 | c.869+88T>A | VUS | Asymptomatic:1 CFTR-RD:1 | Asymptomatic:1 | 0.015099 | AG: 0.00 (-12) AL: 0.00 (38) DG: 0.00 (7) DL: 0.00 (-17) | |
| Intron 7 | c.869+8G>T | VUS | - | - | |||
| Intron 7 | c.870-1095A>G | VUS | Pending:1 | - | - | ||
| Intron 7 | c.870-1101T>C | VUS | CFTR-RD:1 | - | - | ||
| Intron 7 | c.870-1125A>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 7 | c.869+1481A>G | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.56551 | AG: 0.00 (-15) AL: 0.00 (15) DG: 0.00 (-1) DL: 0.00 (1) | ||
| Intron 7 | c.869+1601T>C | not reported | Asymptomatic:2 | 0.00423 | AG: 0.00 (6) AL: 0.00 (-2) DG: 0.00 (6) DL: 0.00 (-2) | ||
| Intron 7 | c.869+1640T>C | not reported | CFTR-RD:1 | 0.00637 | AG: 0.00 (11) AL: 0.00 (-41) DG: 0.00 (11) DL: 0.00 (-41) | ||
| Intron 7 | c.869+233C>A | not reported | CFTR-RD:1 | 0.038248 | AG: 0.00 (2) AL: 0.00 (11) DG: 0.00 (0) DL: 0.00 (-21) | ||
| Intron 7 | c.869+234G>A | not reported | Asymptomatic:1 | 7e-06 | AG: 0.00 (2) AL: 0.00 (-46) DG: 0.00 (10) DL: 0.00 (-18) | ||
| Intron 7 | c.869+286G>A | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.024541 | AG: 0.00 (10) AL: 0.00 (18) DG: 0.00 (17) DL: 0.00 (34) | ||
| 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.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) | ||
| Intron 7 | c.870-1095A>C | not reported | Suspicion of CF:1 | 0.000398 | AG: 0.00 (7) AL: 0.00 (2) DG: 0.35 (33) DL: 0.00 (-3) | ||
| 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) | ||
| Intron 7 | c.870-1225G>A | not reported | Asymptomatic:2 CFTR-RD:1 Suspicion of CF:3 | 0.018538 | AG: 0.00 (2) AL: 0.00 (44) DG: 0.00 (1) DL: 0.00 (-37) | ||
| 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.870-1400A>G | not reported | Asymptomatic:5 CF:3 CFTR-RD:6 Pending (NBS):3 Suspicion of CF:11 | 0.092625 | AG: 0.00 (4) AL: 0.00 (25) DG: 0.00 (-39) DL: 0.00 (5) | ||
| Intron 7 | c.870-168A>G | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.017359 | AG: 0.00 (-45) AL: 0.00 (-15) DG: 0.00 (-16) DL: 0.00 (31) | ||
| Intron 7 | c.870-276A>G | not reported | Infertility:1 | - | AG: 0.00 (42) AL: 0.00 (29) DG: 0.00 (-1) DL: 0.00 (4) | ||
| Intron 7 | c.870-668dupT | not reported | CF:1 CFTR-RD:1 | 0.050266 | AG: 0.00 (28) AL: 0.00 (26) DG: 0.00 (0) DL: 0.00 (-1) | ||
| Intron 8 | c.1116+1G>A | 1248+1G>A | disease-causing | CF:1 | CF:2 CFTR-RD:3 Fetal bowel anomalies:1 | 7e-06 | AG: 0.00 (-46) AL: 0.00 (-17) DG: 0.69 (-35) DL: 0.89 (-1) |
| Intron 8 | c.1117-5A>G | 1249-5A>G | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Intron 8 | c.1116+31A>C | 1248+31 A/C | VUS | - | - | ||
| Intron 8 | c.1116+4_1116+10delinsTATACATAGTAT | VUS | CFTR-RD:1 | - | - | ||
| Intron 8 | c.1116+592C>T | not reported | Asymptomatic:1 Suspicion of CF:2 | 0.104548 | AG: 0.00 (41) AL: 0.00 (-6) DG: 0.00 (41) DL: 0.00 (12) | ||
| Intron 8 | c.1116+593A>T | not reported | CF:2 | 0.000609 | AG: 0.00 (14) AL: 0.00 (40) DG: 0.00 (13) DL: 0.00 (-24) | ||
| Intron 8 | c.1116+606_1116+607delCA | not reported | Asymptomatic:2 CF:1 | 1.4e-05 | AG: 0.00 (42) AL: 0.00 (34) DG: 0.00 (-41) DL: 0.00 (-39) | ||
| Intron 8 | c.1116+612C>T | not reported | Asymptomatic:11 CF:13 CFTR-RD:11 Pending (NBS):13 Suspicion of CF:12 | 0.119206 | AG: 0.00 (21) AL: 0.00 (9) DG: 0.00 (21) DL: 0.00 (-8) | ||
| Intron 8 | c.1116+752A>G | not reported | Asymptomatic:4 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.104768 | AG: 0.00 (-4) AL: 0.00 (33) DG: 0.01 (37) DL: 0.00 (33) | ||
| Intron 8 | c.1117-200A>G | not reported | Pending (NBS):1 | 0.001089 | AG: 0.00 (-5) AL: 0.00 (25) DG: 0.00 (-40) DL: 0.00 (-3) | ||
| 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) | ||
| Intron 8 | c.1117-559G>A | not reported | Asymptomatic:1 | 0.000168 | AG: 0.00 (38) AL: 0.00 (-5) DG: 0.00 (-7) DL: 0.00 (-5) | ||
| Intron 8 | c.1117-561G>A | not reported | Asymptomatic:4 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.104719 | AG: 0.00 (40) AL: 0.00 (-49) DG: 0.00 (-3) DL: 0.00 (-5) | ||
| Intron 8 | c.1117-724G>A | not reported | CFTR-RD:1 | 0.038181 | AG: 0.00 (34) AL: 0.00 (-11) DG: 0.00 (-12) DL: 0.00 (-1) | ||
| Intron 8 | c.1117-756_1117-755delGA | not reported | CFTR-RD:1 Pending (NBS):2 Suspicion of CF:1 | 7e-06 | AG: 0.00 (5) AL: 0.00 (-16) DG: 0.00 (-49) DL: 0.00 (-22) | ||
| Intron 9 | c.1210-12T[7] | poly-T tract variations | non disease-causing | Asymptomatic:17 CF:252 CFTR-RD:233 Fetal bowel anomalies:7 Pending:50 | - | - | |
| Intron 9 | c.1210-12T[9] | poly-T tract variations ; 1342-13G/T | non disease-causing | Asymptomatic:8 CF:246 CFTR-RD:184 Fetal bowel anomalies:8 Pending:34 | - | - | |
| Intron 9 | c.1210-13G>T | TG10T9 | non disease-causing | Asymptomatic:12 CF:9 CFTR-RD:10 Pending (NBS):12 Suspicion of CF:12 | 0.097033 | AG: 0.01 (13) AL: 0.00 (15) DG: 0.00 (-15) DL: 0.00 (-5) | |
| Intron 9 | c.1210-13_1210-12delGT | TG10T7 | non disease-causing | Asymptomatic:9 CF:5 CFTR-RD:8 Pending (NBS):7 Suspicion of CF:8 | 1.5e-05 | AG: 0.01 (35) AL: 0.00 (0) DG: 0.00 (9) DL: 0.00 (7) | |
| Intron 9 | c.1210-13_1210-12dupGT | TG12T7 | non disease-causing | Asymptomatic:3 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:4 | 0.12247 | - | |
| Intron 9 | c.1210-15_1210-12delGTGT | TG9T7 | non disease-causing | CFTR-RD:1 | 1.5e-05 | AG: 0.02 (35) AL: 0.00 (3) DG: 0.00 (5) DL: 0.00 (13) | |
| Intron 9 | c.1210-34TG[10] | 1342-12(GT)n | non disease-causing | Asymptomatic:2 CF:16 CFTR-RD:56 Pending:4 | - | - | |
| Intron 9 | c.1210-34TG[11] | 1342-12(GT)n | non disease-causing | CF:14 CFTR-RD:50 Pending:2 | - | - | |
| Intron 9 | c.1210-34TG[12] | 1342-12(GT)n | non disease-causing | Asymptomatic:2 CF:1 CFTR-RD:21 Pending:2 | - | - | |
| Intron 9 | c.1210-34TG[13] | 1342-11TTT>G | non disease-causing | CFTR-RD:3 | - | - | |
| Intron 9 | c.1210-34TG[9] | non disease-causing | CFTR-RD:1 Pending:2 | - | - | ||
| Intron 9 | c.1210-34_1210-6TG[10]T[7] | TG10T7 | non disease-causing | Asymptomatic:22 CF:73 CFTR-RD:241 Pending:32 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[10]T[9] | TG10T9 | non disease-causing | Asymptomatic:26 CF:161 CFTR-RD:454 Fetal bowel anomalies:2 Pending:61 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[11]T[7] | TG11T7 | non disease-causing | Asymptomatic:22 CF:110 CFTR-RD:265 Fetal bowel anomalies:1 Pending:30 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[11]T[9] | TG11T9 | non disease-causing | Asymptomatic:2 CF:5 CFTR-RD:22 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[12]T[7] | TG12T7 | non disease-causing | Asymptomatic:7 CF:20 CFTR-RD:43 Pending:6 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[12]T[9] | TG12T9 | non disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[13]T[7] | TG13T7 | non disease-causing | CF:2 Fetal bowel anomalies:1 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[8]T[7] | TG8T7 | non disease-causing | - | - | ||
| Intron 9 | c.1210-34_1210-6TG[9]T[7] | TG9T7 | non disease-causing | - | - | ||
| Intron 9 | c.1210-34_1210-6TG[9]T[9] | TG9T9 | non disease-causing | CF:5 CFTR-RD:26 Pending:9 | - | - | |
| Intron 9 | c.1210-7_1210-6dupTT | TG11T9 | non disease-causing | CFTR-RD:1 | 0.045273 | - | |
| Intron 9 | c.1209+1G>A | 1341+1G>A | disease-causing | CF:1 | - | - | |
| Intron 9 | c.1209+2T>G | disease-causing | CF:1 | - | - | ||
| Intron 9 | c.1210-11T>G | TG12T5 | disease-causing | Asymptomatic:1 CF:1 CFTR-RD:2 Infertility:2 Suspicion of CF:7 | 0.008965 | AG: 0.00 (-11) AL: 0.08 (11) DG: 0.00 (11) DL: 0.00 (-19) | |
| Intron 9 | c.1210-12T[3] | 1342-11TTT>G | disease-causing | - | - | ||
| 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[12]T[3] | TG12T3 | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| 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.1210-34_1210-6TG[13]T[5] | TG13T5 | disease-causing | Asymptomatic:4 CF:6 CFTR-RD:77 Pending:3 | - | - | |
| Intron 9 | c.1209+18A>C | 1341+18A>C | VUS | CF:1 CFTR-RD:1 | - | - | |
| Intron 9 | c.1209+28C>T | VUS | Asymptomatic:1 | - | - | ||
| Intron 9 | c.1210-12T[11] | VUS | - | - | |||
| Intron 9 | c.1210-12T[6] | VUS | - | - | |||
| Intron 9 | c.1210-12T[8] | VUS | - | - | |||
| Intron 9 | c.1210-12_1210-11insG | TG12T6 | VUS | Suspicion of CF:1 | 0.001217 | AG: 0.00 (33) AL: 0.03 (12) DG: 0.00 (12) DL: 0.00 (-18) | |
| Intron 9 | c.1210-12_1210-11insGTG | TG13T6 | VUS | Asymptomatic:2 CFTR-RD:1 | 8.8e-05 | - | |
| Intron 9 | c.1210-13delG | TG10T8 | VUS | Asymptomatic:4 CF:2 CFTR-RD:2 Suspicion of CF:4 | 0.002218 | AG: 0.01 (14) AL: 0.00 (16) DG: 0.00 (-14) DL: 0.00 (-4) | |
| Intron 9 | c.1210-34_1210-6TG[10]T[8] | TG10T8 | VUS | CF:1 CFTR-RD: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[6] | TG12T6 | VUS | Asymptomatic:1 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[13]T[6] | TG13T6 | VUS | CF:1 CFTR-RD:3 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[15]T[7] | TG15T7 | VUS | CFTR-RD:1 | - | - | |
| Intron 9 | c.1210-34_1210-6TG[9]T[11] | TG9T11 | VUS | CFTR-RD:1 | - | - | |
| Intron 9 | c.1210-6T>A | VUS | CF:1 | - | - | ||
| Intron 9 | c.1210-7_1210-6delTT | TG11T5 | VUS | Asymptomatic:2 CF:1 CFTR-RD:4 Infertility:1 Pending (NBS):4 Suspicion of CF:1 | 0.036822 | AG: 0.00 (-19) AL: 0.05 (13) DG: 0.00 (-15) DL: 0.00 (-11) | |
| Intron 9 | c.1209+1251C>T | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.004287 | AG: 0.00 (-30) AL: 0.04 (-16) DG: 0.00 (-47) DL: 0.12 (49) | ||
| 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.1209+1964_1209+1975del12 | not reported | CFTR-RD:1 | - | - | ||
| Intron 9 | c.1209+2108G>T | not reported | Suspicion of CF:2 | 0.001431 | AG: 0.00 (-26) AL: 0.08 (-24) DG: 0.00 (-2) DL: 0.00 (17) | ||
| 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) | ||
| Intron 9 | c.1209+2115G>C | not reported | Suspicion of CF:1 | 0.001431 | AG: 0.04 (-31) AL: 0.00 (1) DG: 0.05 (45) DL: 0.00 (-5) | ||
| Intron 9 | c.1209+2118C>A | not reported | Suspicion of CF:1 | 0.001431 | AG: 0.02 (-34) AL: 0.00 (-17) DG: 0.01 (42) DL: 0.00 (13) | ||
| Intron 9 | c.1209+2120_1209+2121insAAG | not reported | Suspicion of CF:1 | 0.001431 | - | ||
| Intron 9 | c.1209+2122_1209+2126del5 | not reported | Suspicion of CF:1 | 0.00143 | - | ||
| Intron 9 | c.1209+2354G>A | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.564735 | AG: 0.00 (2) AL: 0.00 (-44) DG: 0.00 (2) DL: 0.00 (-44) | ||
| Intron 9 | c.1209+2613C>T | not reported | Suspicion of CF:1 | 0.014106 | AG: 0.00 (17) AL: 0.00 (-24) DG: 0.00 (-26) DL: 0.00 (-25) | ||
| Intron 9 | c.1209+2909T>C | not reported | Asymptomatic:23 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.565535 | AG: 0.00 (-23) AL: 0.00 (14) DG: 0.00 (49) DL: 0.00 (-16) | ||
| Intron 9 | c.1209+331C>T | not reported | CFTR-RD:1 | 0.001028 | AG: 0.00 (6) AL: 0.00 (-20) DG: 0.00 (-33) DL: 0.00 (43) | ||
| Intron 9 | c.1209+395C>T | not reported | Asymptomatic:1 | - | AG: 0.00 (2) AL: 0.00 (16) DG: 0.00 (28) DL: 0.00 (27) | ||
| Intron 9 | c.1209+425C>T | not reported | CF:3 CFTR-RD:1 Suspicion of CF:3 | 0.015008 | AG: 0.00 (-2) AL: 0.00 (32) DG: 0.01 (-2) DL: 0.00 (27) | ||
| Intron 9 | c.1209+846C>T | not reported | CF:1 | 0.000391 | AG: 0.00 (4) AL: 0.00 (-44) DG: 0.00 (-2) DL: 0.00 (17) | ||
| Intron 9 | c.1209+976G>T | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:4 | 0.033217 | AG: 0.00 (10) AL: 0.00 (-19) DG: 0.00 (-12) DL: 0.00 (49) | ||
| Intron 9 | c.1210-1036T>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.238209 | AG: 0.00 (-13) AL: 0.00 (5) DG: 0.00 (14) DL: 0.00 (5) | ||
| Intron 9 | c.1210-1110T>G | not reported | Suspicion of CF:1 | 2.1e-05 | AG: 0.00 (-50) AL: 0.00 (37) DG: 0.00 (-50) DL: 0.00 (41) | ||
| Intron 9 | c.1210-11_1210-10insG | not reported | Suspicion of CF:1 | 0.000828 | AG: 0.00 (32) AL: 0.03 (11) DG: 0.00 (11) DL: 0.00 (-19) | ||
| Intron 9 | c.1210-1234T>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.238951 | AG: 0.00 (-49) AL: 0.00 (18) DG: 0.00 (2) DL: 0.00 (-39) | ||
| Intron 9 | c.1210-15delG | not reported | CF:1 | 0 | AG: 0.01 (16) AL: 0.00 (18) DG: 0.00 (-12) DL: 0.00 (-2) | ||
| Intron 9 | c.1210-1638C>T | not reported | CFTR-RD:1 | 0.004357 | AG: 0.00 (22) AL: 0.00 (-25) DG: 0.00 (22) DL: 0.00 (17) | ||
| Intron 9 | c.1210-1684G>A | not reported | Asymptomatic:11 CF:13 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:12 | 0.075441 | AG: 0.00 (-39) AL: 0.00 (0) DG: 0.00 (2) DL: 0.00 (-39) | ||
| Intron 9 | c.1210-1692C>T | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.006494 | AG: 0.00 (-31) AL: 0.00 (-25) DG: 0.00 (-31) DL: 0.00 (-8) | ||
| Intron 9 | c.1210-19_1210-13del7 | not reported | Asymptomatic:1 | 0.0001 | - | ||
| Intron 9 | c.1210-2000G>A | not reported | Asymptomatic:4 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.106499 | AG: 0.00 (10) AL: 0.00 (-15) DG: 0.00 (19) DL: 0.00 (-15) | ||
| Intron 9 | c.1210-2137G>A | not reported | CF:3 | 0.000224 | AG: 0.00 (30) AL: 0.00 (-5) DG: 0.00 (-47) DL: 0.00 (50) | ||
| Intron 9 | c.1210-2636_1210-2632dup5 | not reported | Asymptomatic:9 CF:8 CFTR-RD:9 Pending (NBS):5 Suspicion of CF:15 | 0.230904 | - | ||
| Intron 9 | c.1210-275A>G | not reported | Asymptomatic:2 CF:2 CFTR-RD:1 Suspicion of CF:2 | 0.001317 | AG: 0.00 (-41) AL: 0.00 (-9) DG: 0.00 (3) DL: 0.00 (15) | ||
| Intron 9 | c.1210-275_1210-274delAT | not reported | Suspicion of CF:1 | - | - | ||
| Intron 9 | c.1210-277_1210-276delGT | not reported | Asymptomatic:7 CF:4 CFTR-RD:5 Infertility:1 Suspicion of CF:8 | 7e-06 | AG: 0.00 (-8) AL: 0.00 (-42) DG: 0.00 (48) DL: 0.00 (36) | ||
| Intron 9 | c.1210-277_1210-276dupGT | not reported | Asymptomatic:5 CF:3 CFTR-RD:2 Infertility:1 Pending (NBS):13 Suspicion of CF:7 | 0.189598 | - | ||
| Intron 9 | c.1210-279_1210-276delGTGT | not reported | Asymptomatic:2 | - | - | ||
| 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) | ||
| Intron 9 | c.1210-2816T>G | not reported | Suspicion of CF:1 | 0.009058 | AG: 0.00 (-40) AL: 0.00 (15) DG: 0.00 (-40) DL: 0.00 (9) | ||
| Intron 9 | c.1210-2832dupT | not reported | CFTR-RD:1 | 0.040107 | AG: 0.00 (42) AL: 0.00 (44) DG: 0.00 (17) DL: 0.00 (15) | ||
| Intron 9 | c.1210-285_1210-276dup10 | not reported | CF:1 CFTR-RD:1 | 0.01703 | - | ||
| Intron 9 | c.1210-287_1210-276dup12 | not reported | CF:1 CFTR-RD:2 Pending (NBS):1 | 0.010158 | - | ||
| Intron 9 | c.1210-289_1210-276dup14 | not reported | Asymptomatic:1 CF:1 CFTR-RD:3 | 0.072992 | - | ||
| Intron 9 | c.1210-32T>G | not reported | Asymptomatic:1 CFTR-RD:1 | 0 | AG: 0.00 (1) AL: 0.04 (32) DG: 0.00 (0) DL: 0.00 (4) | ||
| Intron 9 | c.1210-584T>A | not reported | Asymptomatic:1 Suspicion of CF:1 | - | AG: 0.00 (-9) AL: 0.00 (3) DG: 0.00 (25) DL: 0.00 (-46) | ||
| Intron 9 | c.1210-6delT | not reported | Suspicion of CF:1 | - | AG: 0.00 (-15) AL: 0.02 (13) DG: 0.00 (-15) DL: 0.00 (34) | ||
| Intron 9 | c.1210-873G>A | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.253813 | AG: 0.00 (-3) AL: 0.00 (-32) DG: 0.00 (-3) DL: 0.01 (26) | ||
| Intron 10 | c.1392+52T[10] | non disease-causing | CFTR-RD:1 | - | - | ||
| Intron 10 | c.1393-61A>G | 1525-61A/G | non disease-causing | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | Asymptomatic:11 CF:75 CFTR-RD:120 Fetal bowel anomalies:5 Pending:29 | 0.255903 | AG: 0.00 (7) AL: 0.00 (-12) DG: 0.00 (-31) DL: 0.00 (1) |
| Intron 10 | c.1393-1G>A | 1525- 1G- >A | disease-causing | CF:1 | - | - | |
| Intron 10 | c.1393-2A>G | 1525-2A>G | disease-causing | CFTR-RD:1 | - | - | |
| Intron 10 | c.1392+1del | VUS | CF:2 | - | - | ||
| Intron 10 | c.1393-3C>A | VUS | Asymptomatic:1 | - | - | ||
| Intron 10 | c.1392+1189C>T | not reported | Asymptomatic:11 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:21 | 0.308488 | AG: 0.00 (11) AL: 0.00 (43) DG: 0.00 (-2) DL: 0.00 (-47) | ||
| Intron 10 | c.1392+1320G>A | not reported | Asymptomatic:1 | 0.006216 | AG: 0.00 (-35) AL: 0.00 (-40) DG: 0.00 (2) DL: 0.00 (-35) | ||
| Intron 10 | c.1392+1520dupA | not reported | Asymptomatic:5 CF:5 CFTR-RD:4 Pending (NBS):5 Suspicion of CF:4 | 0.035396 | AG: 0.00 (-15) AL: 0.00 (-3) DG: 0.00 (-25) DL: 0.00 (-11) | ||
| Intron 10 | c.1392+152G>A | not reported | Asymptomatic:20 CF:12 CFTR-RD:17 Infertility:1 Pending (NBS):14 Suspicion of CF:29 | 0.313197 | AG: 0.00 (50) AL: 0.00 (23) DG: 0.00 (-27) DL: 0.00 (-33) | ||
| Intron 10 | c.1392+155C>T | not reported | Asymptomatic:17 CF:11 CFTR-RD:14 Pending (NBS):13 Suspicion of CF:15 | 0.32609 | AG: 0.00 (47) AL: 0.00 (-30) DG: 0.00 (-36) DL: 0.00 (1) | ||
| Intron 10 | c.1392+165T>C | not reported | Asymptomatic:18 CF:11 CFTR-RD:13 Pending (NBS):13 Suspicion of CF:18 | 0.329465 | AG: 0.00 (37) AL: 0.00 (-40) DG: 0.00 (-46) DL: 0.00 (-40) | ||
| Intron 10 | c.1392+1721T>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.253696 | AG: 0.00 (-26) AL: 0.00 (26) DG: 0.00 (24) DL: 0.00 (-42) | ||
| Intron 10 | c.1392+1826C>T | not reported | Asymptomatic:10 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:19 | 0.178228 | AG: 0.00 (-41) AL: 0.00 (-20) DG: 0.00 (-41) DL: 0.00 (0) | ||
| Intron 10 | c.1392+1901C>A | not reported | CFTR-RD:1 Suspicion of CF:2 | 0.003926 | AG: 0.00 (14) AL: 0.00 (18) DG: 0.00 (13) DL: 0.00 (-2) | ||
| 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) | ||
| Intron 10 | c.1392+2119T>G | not reported | Asymptomatic:11 CF:6 CFTR-RD:6 Pending (NBS):3 Suspicion of CF:12 | 0.238258 | AG: 0.00 (-7) AL: 0.00 (-49) DG: 0.00 (-33) DL: 0.00 (-26) | ||
| Intron 10 | c.1392+212T>C | not reported | Asymptomatic:17 CF:11 CFTR-RD:13 Pending (NBS):13 Suspicion of CF:21 | 0.250653 | AG: 0.00 (-10) AL: 0.00 (47) DG: 0.00 (35) DL: 0.00 (49) | ||
| Intron 10 | c.1392+2170A>G | not reported | CF:1 | 0.00053 | AG: 0.00 (8) AL: 0.00 (35) DG: 0.00 (35) DL: 0.00 (6) | ||
| Intron 10 | c.1392+228T>C | not reported | 0.000164 | AG: 0.00 (-26) AL: 0.00 (7) DG: 0.00 (33) DL: 0.00 (-2) | |||
| Intron 10 | c.1392+230T>C | not reported | 0.000164 | AG: 0.00 (-28) AL: 0.00 (8) DG: 0.00 (31) DL: 0.00 (-7) | |||
| Intron 10 | c.1392+2406G>A | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.564467 | AG: 0.00 (32) AL: 0.00 (-12) DG: 0.00 (-3) DL: 0.00 (20) | ||
| Intron 10 | c.1392+2449C>T | not reported | Asymptomatic:2 CF:1 CFTR-RD:3 Infertility:1 Pending (NBS):6 Suspicion of CF:2 | 0.017933 | AG: 0.00 (34) AL: 0.00 (-11) DG: 0.00 (-2) DL: 0.00 (-23) | ||
| Intron 10 | c.1392+2513A>T | not reported | CFTR-RD:1 | 0.016035 | AG: 0.00 (38) AL: 0.00 (1) DG: 0.00 (38) DL: 0.00 (1) | ||
| Intron 10 | c.1392+263C>T | not reported | Asymptomatic:7 CF:10 CFTR-RD:10 Pending (NBS):11 Suspicion of CF:7 | 7e-05 | AG: 0.00 (-2) AL: 0.00 (22) DG: 0.03 (-2) DL: 0.00 (50) | ||
| Intron 10 | c.1392+2942T>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.238946 | AG: 0.03 (-46) AL: 0.00 (28) DG: 0.00 (-46) DL: 0.00 (28) | ||
| Intron 10 | c.1392+307T>C | not reported | Asymptomatic:20 CF:11 CFTR-RD:13 Pending (NBS):13 Suspicion of CF:9 | 0.015793 | AG: 0.00 (34) AL: 0.00 (15) DG: 0.00 (-30) DL: 0.00 (-46) | ||
| Intron 10 | c.1392+311T>G | not reported | Asymptomatic:20 CF:11 CFTR-RD:13 Pending (NBS):13 Suspicion of CF:9 | 0.01128 | AG: 0.00 (1) AL: 0.00 (11) DG: 0.00 (32) DL: 0.00 (-50) | ||
| Intron 10 | c.1392+3252_1392+3253delTA | not reported | CF:1 Suspicion of CF:1 | 7e-05 | AG: 0.00 (15) AL: 0.00 (11) DG: 0.00 (-17) DL: 0.00 (-24) | ||
| Intron 10 | c.1392+3257_1392+3277del21 | not reported | CFTR-RD:1 | - | - | ||
| Intron 10 | c.1392+3262C>T | not reported | Pending (NBS):2 Suspicion of CF:2 | 0.006986 | AG: 0.00 (-2) AL: 0.00 (1) DG: 0.00 (-2) DL: 0.00 (2) | ||
| Intron 10 | c.1392+3288T>A | not reported | CF:2 | 0.000768 | AG: 0.00 (37) AL: 0.00 (-37) DG: 0.00 (-3) DL: 0.00 (-13) | ||
| Intron 10 | c.1392+329A>G | not reported | Asymptomatic:2 CF:1 | 0.006101 | AG: 0.00 (-7) AL: 0.00 (2) DG: 0.00 (47) DL: 0.00 (-42) | ||
| Intron 10 | c.1392+365C>A | not reported | Asymptomatic:2 CF:1 Suspicion of CF:1 | 0.013167 | AG: 0.00 (-11) AL: 0.00 (-43) DG: 0.00 (-4) DL: 0.00 (30) | ||
| Intron 10 | c.1392+3731A>G | not reported | Asymptomatic:10 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:19 | 0.186218 | AG: 0.01 (-25) AL: 0.00 (36) DG: 0.00 (-25) DL: 0.00 (6) | ||
| Intron 10 | c.1392+377G>T | not reported | Suspicion of CF:1 | 0.081971 | AG: 0.00 (-50) AL: 0.00 (-36) DG: 0.00 (19) DL: 0.00 (18) | ||
| Intron 10 | c.1392+3810_1392+3818del9 | not reported | CFTR-RD:1 | - | - | ||
| Intron 10 | c.1392+3883A>C | not reported | Asymptomatic:5 CF:3 CFTR-RD:3 Pending (NBS):2 Suspicion of CF:5 | 0.187034 | AG: 0.00 (-48) AL: 0.00 (-44) DG: 0.00 (-48) DL: 0.01 (-40) | ||
| Intron 10 | c.1392+389A>G | not reported | Asymptomatic:2 CF:1 CFTR-RD:1 Suspicion of CF:2 | 1.4e-05 | AG: 0.00 (-39) AL: 0.00 (-50) DG: 0.00 (6) DL: 0.00 (-13) | ||
| Intron 10 | c.1392+390C>A | not reported | 1.4e-05 | AG: 0.00 (5) AL: 0.00 (6) DG: 0.00 (-14) DL: 0.00 (5) | |||
| Intron 10 | c.1392+3957C>G | not reported | Pending (NBS):1 | - | AG: 0.00 (-25) AL: 0.00 (-10) DG: 0.00 (-1) DL: 0.00 (-10) | ||
| Intron 10 | c.1392+395G>A | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.238213 | AG: 0.00 (33) AL: 0.00 (0) DG: 0.00 (-19) DL: 0.00 (0) | ||
| Intron 10 | c.1392+398C>G | not reported | 0 | AG: 0.00 (-3) AL: 0.00 (-2) DG: 0.00 (-3) DL: 0.00 (-22) | |||
| Intron 10 | c.1392+4090G>C | not reported | CF:3 | - | AG: 0.00 (9) AL: 0.00 (1) DG: 0.00 (-7) DL: 0.00 (-1) | ||
| Intron 10 | c.1392+4130A>G | not reported | Asymptomatic:1 | 0.000119 | AG: 0.00 (-15) AL: 0.00 (43) DG: 0.00 (-47) DL: 0.00 (2) | ||
| Intron 10 | c.1392+41G>A | not reported | Asymptomatic:6 CFTR-RD:4 Pending (NBS):3 Suspicion of CF:2 | 0 | AG: 0.00 (24) AL: 0.00 (-45) DG: 0.00 (-41) DL: 0.00 (-46) | ||
| Intron 10 | c.1392+4352T>C | not reported | Asymptomatic:2 CFTR-RD:1 | 0.000636 | AG: 0.00 (21) AL: 0.00 (-22) DG: 0.00 (21) DL: 0.00 (-22) | ||
| Intron 10 | c.1392+4423_1392+4424delCA | not reported | Asymptomatic:10 CF:5 CFTR-RD:5 Infertility:1 Pending (NBS):4 Suspicion of CF:7 | 2.1e-05 | AG: 0.00 (43) AL: 0.00 (42) DG: 0.00 (-28) DL: 0.00 (38) | ||
| Intron 10 | c.1392+4423_1392+4424dupCA | not reported | Asymptomatic:10 CF:4 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:6 | 0.327083 | - | ||
| Intron 10 | c.1392+4425T>C | not reported | CFTR-RD:1 | 7e-06 | AG: 0.00 (1) AL: 0.00 (38) DG: 0.00 (14) DL: 0.00 (-2) | ||
| Intron 10 | c.1392+4442A>C | not reported | CF:1 | 4.9e-05 | AG: 0.00 (10) AL: 0.00 (2) DG: 0.00 (8) DL: 0.00 (-3) | ||
| Intron 10 | c.1392+4616G>A | not reported | Suspicion of CF:1 | 0.000622 | AG: 0.00 (-37) AL: 0.00 (-40) DG: 0.00 (27) DL: 0.00 (-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 10 | c.1392+5059A>G | not reported | Asymptomatic:4 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.106272 | AG: 0.00 (-33) AL: 0.00 (-43) DG: 0.00 (-33) DL: 0.00 (16) | ||
| Intron 10 | c.1392+51C>G | not reported | Asymptomatic:1 CFTR-RD:1 | - | AG: 0.00 (-48) AL: 0.00 (14) DG: 0.00 (-37) DL: 0.00 (-48) | ||
| Intron 10 | c.1392+5205G>A | not reported | Infertility:1 Suspicion of CF:3 | 0.001445 | AG: 0.00 (2) AL: 0.00 (6) DG: 0.00 (6) DL: 0.00 (-43) | ||
| Intron 10 | c.1392+58T>C | not reported | Asymptomatic:1 CFTR-RD:1 | 0.000136 | AG: 0.00 (7) AL: 0.00 (-50) DG: 0.00 (22) DL: 0.00 (-47) | ||
| Intron 10 | c.1392+617_1392+624del8 | not reported | Pending (NBS):1 | - | - | ||
| Intron 10 | c.1392+706G>T | not reported | Pending (NBS):1 | - | AG: 0.00 (-11) AL: 0.00 (-12) DG: 0.00 (-11) DL: 0.00 (-33) | ||
| Intron 10 | c.1392+827A>G | not reported | Asymptomatic:1 Suspicion of CF:4 | 0.005867 | AG: 0.00 (39) AL: 0.00 (26) DG: 0.00 (-1) DL: 0.00 (25) | ||
| Intron 10 | c.1393-1063A>C | not reported | CFTR-RD:1 Suspicion of CF:2 | 0.004576 | AG: 0.00 (8) AL: 0.00 (2) DG: 0.00 (23) DL: 0.00 (2) | ||
| Intron 10 | c.1393-1093A>G | not reported | Asymptomatic:1 | 0 | AG: 0.00 (-26) AL: 0.00 (2) DG: 0.00 (0) DL: 0.00 (2) | ||
| Intron 10 | c.1393-1103T>C | not reported | Asymptomatic:1 | - | AG: 0.00 (-16) AL: 0.00 (12) DG: 0.00 (-22) DL: 0.00 (4) | ||
| Intron 10 | c.1393-1104C>T | not reported | CFTR-RD:1 | 0.050417 | AG: 0.00 (13) AL: 0.00 (-15) DG: 0.00 (8) DL: 0.00 (-21) | ||
| 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.1393-1644A>G | not reported | Asymptomatic:1 | - | AG: 0.00 (-45) AL: 0.00 (0) DG: 0.00 (-2) DL: 0.00 (50) | ||
| Intron 10 | c.1393-1775C>A | not reported | CFTR-RD:1 | - | AG: 0.00 (2) AL: 0.00 (18) DG: 0.00 (-16) DL: 0.00 (18) | ||
| 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.1393-2163A>G | not reported | Pending (NBS):1 | 0.010256 | AG: 0.00 (-50) AL: 0.00 (-3) DG: 0.00 (-5) DL: 0.00 (-3) | ||
| Intron 10 | c.1393-2487T>A | not reported | Asymptomatic:10 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:19 | 0.17826 | AG: 0.00 (-40) AL: 0.00 (5) DG: 0.00 (-3) DL: 0.00 (-21) | ||
| Intron 10 | c.1393-2489A>C | not reported | CFTR-RD:1 | 0.050585 | AG: 0.00 (-1) AL: 0.00 (-38) DG: 0.00 (-24) DL: 0.00 (-19) | ||
| Intron 10 | c.1393-2577C>G | not reported | Asymptomatic:1 | 0.002367 | AG: 0.00 (1) AL: 0.00 (-7) DG: 0.00 (-1) DL: 0.00 (-8) | ||
| Intron 10 | c.1393-2883G>A | not reported | Suspicion of CF:1 | 0.000114 | AG: 0.00 (-40) AL: 0.00 (-16) DG: 0.00 (-42) DL: 0.00 (33) | ||
| Intron 10 | c.1393-2896G>A | not reported | 0 | AG: 0.00 (-27) AL: 0.00 (-3) DG: 0.00 (46) DL: 0.00 (-44) | |||
| Intron 10 | c.1393-2926delG | not reported | - | - | |||
| Intron 10 | c.1393-2927_1393-2926delTG | not reported | - | - | |||
| Intron 10 | c.1393-2929_1393-2927delTTT | not reported | Asymptomatic:1 | - | - | ||
| Intron 10 | c.1393-2942_1393-2927del16 | not reported | Suspicion of CF:1 | - | - | ||
| Intron 10 | c.1393-3150C>T | not reported | Asymptomatic:3 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.106252 | AG: 0.00 (-20) AL: 0.00 (38) DG: 0.00 (-35) DL: 0.00 (26) | ||
| Intron 10 | c.1393-3252G>A | not reported | Infertility:1 | 0.006279 | AG: 0.00 (35) AL: 0.00 (-5) DG: 0.00 (1) DL: 0.00 (-5) | ||
| 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.1393-3602G>T | not reported | Pending (NBS):1 | 0.001089 | AG: 0.00 (19) AL: 0.00 (1) DG: 0.00 (-35) DL: 0.00 (-5) | ||
| Intron 10 | c.1393-3961T>C | not reported | Asymptomatic:11 CF:13 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:12 | 0.076145 | AG: 0.00 (-21) AL: 0.00 (25) DG: 0.00 (13) DL: 0.00 (-30) | ||
| Intron 10 | c.1393-3972A>G | not reported | CFTR-RD:1 | 0.038201 | AG: 0.00 (0) AL: 0.00 (2) DG: 0.00 (0) DL: 0.00 (-19) | ||
| Intron 10 | c.1393-3978C>G | not reported | CFTR-RD:1 | 8.4e-05 | AG: 0.00 (-48) AL: 0.00 (-4) DG: 0.00 (30) DL: 0.00 (-13) | ||
| Intron 10 | c.1393-4847G>T | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.005133 | AG: 0.00 (36) AL: 0.00 (38) DG: 0.00 (7) DL: 0.00 (46) | ||
| Intron 10 | c.1393-4892T>C | not reported | Suspicion of CF:1 | 0.000161 | AG: 0.00 (-7) AL: 0.00 (-18) DG: 0.00 (24) DL: 0.00 (-19) | ||
| Intron 10 | c.1393-5048G>A | not reported | Asymptomatic:10 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:20 | 0.191548 | AG: 0.00 (-9) AL: 0.00 (28) DG: 0.00 (-24) DL: 0.00 (28) | ||
| Intron 10 | c.1393-5118_1393-5109del10 | not reported | Asymptomatic:1 | - | - | ||
| Intron 10 | c.1393-5301A>G | not reported | Asymptomatic:1 CFTR-RD:1 | 0.000321 | AG: 0.00 (-10) AL: 0.00 (2) DG: 0.00 (-42) DL: 0.00 (24) | ||
| Intron 10 | c.1393-613_1393-604del10 | not reported | Pending (NBS):1 | - | - | ||
| Intron 10 | c.1393-878_1393-875delTAAA | not reported | Asymptomatic:1 | 7e-06 | AG: 0.00 (-15) AL: 0.00 (-27) DG: 0.00 (-15) DL: 0.00 (-23) | ||
| Intron 10 | c.1393-878_1393-875dupTAAA | not reported | Asymptomatic:8 CF:5 CFTR-RD:5 Pending (NBS):4 Suspicion of CF:3 | 0.148504 | - | ||
| Intron 10 | c.1393-882_1393-875dup8 | not reported | Asymptomatic:5 CF:6 CFTR-RD:5 Pending (NBS):9 Suspicion of CF:6 | 0.179972 | - | ||
| Intron 10 | c.1393-886_1393-875dup12 | not reported | Asymptomatic:2 CF:3 CFTR-RD:1 | 0.027414 | - | ||
| Intron 10 | c.1393-890_1393-875dup16 | not reported | Asymptomatic:1 CFTR-RD:2 | 0.021059 | - | ||
| Intron 10 | c.1393-953G>A | not reported | CF:1 Suspicion of CF:1 | 3.5e-05 | AG: 0.00 (37) AL: 0.00 (27) DG: 0.00 (37) DL: 0.00 (27) | ||
| Intron 10 | c.1393-962C>A | not reported | Suspicion of CF:1 | - | AG: 0.00 (36) AL: 0.00 (24) DG: 0.00 (-7) DL: 0.00 (28) | ||
| Intron 10 | c.1393-965A>C | not reported | Suspicion of CF:1 | - | AG: 0.00 (39) AL: 0.00 (-4) DG: 0.00 (39) DL: 0.00 (-4) | ||
| Intron 10 | c.1393-978A>G | not reported | Suspicion of CF:1 | 7e-06 | AG: 0.00 (9) AL: 0.00 (2) DG: 0.00 (9) DL: 0.00 (2) | ||
| Intron 10 | c.1393-981G>A | not reported | Suspicion of CF:1 | 7e-06 | AG: 0.00 (-48) AL: 0.00 (12) DG: 0.00 (12) DL: 0.00 (0) | ||
| Intron 10 | c.1393-985A>G | not reported | Suspicion of CF:1 | 0.000706 | AG: 0.00 (47) AL: 0.00 (2) DG: 0.00 (16) DL: 0.00 (47) | ||
| Intron 10 | c.1393-993G>A | not reported | Suspicion of CF:1 | - | AG: 0.00 (2) AL: 0.00 (-36) DG: 0.00 (-47) DL: 0.00 (24) | ||
| Intron 11 | c.1585-9218G>A | non disease-causing | Asymptomatic:24 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | Asymptomatic:1 CF:1 CFTR-RD:6 | 0.55372 | AG: 0.00 (-17) AL: 0.00 (24) DG: 0.00 (-32) DL: 0.00 (-34) | |
| Intron 11 | c.1584+1G>A | 1716+1G->A | disease-causing | CFTR-RD:1 | - | - | |
| Intron 11 | c.1584+2T>C | 1716+2T>C | disease-causing | Asymptomatic:1 CF:1 | - | - | |
| Intron 11 | c.1585-1G>A | 1717-1G>A | disease-causing | Asymptomatic:1 | Asymptomatic:2 CF:77 CFTR-RD:12 Fetal bowel anomalies:3 Pending:2 | 7.7e-05 | AG: 0.49 (2) AL: 0.97 (1) DG: 0.00 (-7) DL: 0.00 (1) |
| Intron 11 | c.1585-8G>A | 1717-8G>A | disease-causing | CF:5 | - | - | |
| Intron 11 | c.1585-9412A>G | disease-causing | Asymptomatic:1 CF:3 | CF:5 | 7e-06 | AG: 0.00 (-45) AL: 0.00 (-5) DG: 0.68 (-5) DL: 0.00 (-6) | |
| Intron 11 | c.1584+12T>C | 1716+12T/C | VUS | CF:2 | - | - | |
| Intron 11 | c.1584+3765A>T | VUS | - | - | |||
| Intron 11 | c.1584+53_1584+63dup | VUS | - | - | |||
| Intron 11 | c.1584+64T>C | VUS | Asymptomatic:1 | - | - | ||
| Intron 11 | c.1584+77A>G | 1716+ 77A/G | VUS | Pending:1 | - | - | |
| Intron 11 | c.1585-3T>C | VUS | Asymptomatic:2 Pending:1 | - | - | ||
| Intron 11 | c.1585-84A>C | VUS | CFTR-RD:1 | - | - | ||
| Intron 11 | c.1585-9212G>A | VUS | CF:1 | - | - | ||
| Intron 11 | c.1585-9395C>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 11 | c.1585-9418T>C | VUS | CFTR-RD:1 | - | - | ||
| Intron 11 | c.1585-9449C>A | VUS | Asymptomatic:2 CFTR-RD:2 | - | - | ||
| Intron 11 | c.1584+1000delT | not reported | Asymptomatic:1 | 0.001404 | AG: 0.00 (2) AL: 0.00 (13) DG: 0.00 (44) DL: 0.00 (13) | ||
| Intron 11 | c.1584+1000dupT | not reported | Asymptomatic:1 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:1 | 0.000238 | AG: 0.00 (13) AL: 0.00 (1) DG: 0.00 (13) DL: 0.00 (1) | ||
| Intron 11 | c.1584+10183A>T | not reported | CFTR-RD:2 Suspicion of CF:1 | 0.010442 | AG: 0.00 (7) AL: 0.00 (25) DG: 0.00 (7) DL: 0.00 (1) | ||
| Intron 11 | c.1584+10552dupA | not reported | Asymptomatic:1 CFTR-RD:1 Suspicion of CF:1 | 0.020803 | AG: 0.00 (-24) AL: 0.00 (-42) DG: 0.00 (-24) DL: 0.00 (-18) | ||
| Intron 11 | c.1584+10659C>T | not reported | Asymptomatic:11 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:19 | 0.170858 | AG: 0.00 (31) AL: 0.00 (3) DG: 0.00 (-27) DL: 0.00 (31) | ||
| Intron 11 | c.1584+11296A>G | not reported | Asymptomatic:1 | 0.000551 | AG: 0.00 (-5) AL: 0.00 (47) DG: 0.00 (-5) DL: 0.00 (-9) | ||
| Intron 11 | c.1584+11322C>T | not reported | Asymptomatic:2 CFTR-RD:1 | 0.000635 | AG: 0.00 (40) AL: 0.00 (-35) DG: 0.00 (-35) DL: 0.00 (-38) | ||
| Intron 11 | c.1584+11345A>G | not reported | Asymptomatic:11 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:19 | 0.190376 | AG: 0.00 (17) AL: 0.00 (2) DG: 0.00 (17) DL: 0.00 (2) | ||
| Intron 11 | c.1584+11712G>A | not reported | CF:1 | 1.4e-05 | AG: 0.00 (2) AL: 0.00 (18) DG: 0.00 (1) DL: 0.00 (-26) | ||
| Intron 11 | c.1584+1179A>G | not reported | Suspicion of CF:1 | 0.00546 | AG: 0.00 (43) AL: 0.00 (-36) DG: 0.00 (-36) DL: 0.00 (-4) | ||
| Intron 11 | c.1584+1190C>T | not reported | Asymptomatic:11 CF:13 CFTR-RD:11 Pending (NBS):13 Suspicion of CF:12 | 0.126736 | AG: 0.00 (9) AL: 0.00 (-47) DG: 0.00 (-47) DL: 0.00 (31) | ||
| Intron 11 | c.1584+12144T>C | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:31 | 0.420834 | AG: 0.00 (17) AL: 0.00 (-2) DG: 0.00 (0) DL: 0.00 (-4) | ||
| Intron 11 | c.1584+12191G>T | not reported | Suspicion of CF:1 | 2.1e-05 | AG: 0.00 (-22) AL: 0.00 (1) DG: 0.00 (-20) DL: 0.00 (-27) | ||
| Intron 11 | c.1584+12338dupT | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:29 | 0.411678 | AG: 0.00 (37) AL: 0.00 (35) DG: 0.00 (37) DL: 0.00 (-28) | ||
| Intron 11 | c.1584+13014T>C | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:34 | 0.560479 | AG: 0.00 (-44) AL: 0.00 (1) DG: 0.00 (49) DL: 0.00 (-12) | ||
| 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.1584+1319G>A | not reported | CFTR-RD:1 Pending (NBS):1 | 0.000343 | AG: 0.00 (23) AL: 0.00 (-1) DG: 0.00 (-25) DL: 0.00 (-1) | ||
| Intron 11 | c.1584+13395_1584+13402dup8 | not reported | CFTR-RD:1 | 0.047999 | - | ||
| Intron 11 | c.1584+13397_1584+13402dup6 | not reported | Asymptomatic:3 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:3 | 0.13286 | - | ||
| Intron 11 | c.1584+13401_1584+13402delCT | not reported | Asymptomatic:6 CF:6 CFTR-RD:3 Infertility:1 Pending (NBS):3 Suspicion of CF:2 | 1.5e-05 | AG: 0.00 (15) AL: 0.00 (7) DG: 0.00 (-50) DL: 0.00 (-16) | ||
| Intron 11 | c.1584+13403_1584+13414del12 | not reported | Asymptomatic:10 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:18 | 0.165173 | - | ||
| Intron 11 | c.1584+13403_1584+13416del14 | not reported | Asymptomatic:1 Pending (NBS):1 Suspicion of CF:1 | 0.000154 | - | ||
| Intron 11 | c.1584+1664delT | not reported | Asymptomatic:6 CF:1 CFTR-RD:5 Pending (NBS):1 Suspicion of CF:3 | 0.188008 | AG: 0.00 (-17) AL: 0.00 (-41) DG: 0.00 (47) DL: 0.00 (45) | ||
| Intron 11 | c.1584+1701T>A | not reported | Asymptomatic:3 CFTR-RD:2 Suspicion of CF:2 | 0.038983 | AG: 0.00 (-20) AL: 0.00 (0) DG: 0.00 (34) DL: 0.00 (-2) | ||
| Intron 11 | c.1584+2268C>G | not reported | Suspicion of CF:2 | - | AG: 0.00 (-5) AL: 0.00 (10) DG: 0.00 (-5) DL: 0.00 (10) | ||
| Intron 11 | c.1584+2363A>G | not reported | Suspicion of CF:1 | 0.006267 | AG: 0.00 (-24) AL: 0.00 (17) DG: 0.00 (49) DL: 0.00 (4) | ||
| Intron 11 | c.1584+2686_1584+2687delAT | not reported | Asymptomatic:1 | - | - | ||
| Intron 11 | c.1584+2725A>G | not reported | Asymptomatic:10 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:19 | 0.195173 | AG: 0.00 (1) AL: 0.00 (45) DG: 0.00 (0) DL: 0.00 (3) | ||
| Intron 11 | c.1584+2775C>G | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.233212 | AG: 0.00 (-5) AL: 0.00 (20) DG: 0.00 (-47) DL: 0.00 (49) | ||
| Intron 11 | c.1584+3108A>G | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 | 0.013783 | AG: 0.00 (46) AL: 0.00 (34) DG: 0.00 (48) DL: 0.00 (-41) | ||
| Intron 11 | c.1584+3440G>A | not reported | Pending (NBS):1 | 2.1e-05 | AG: 0.00 (23) AL: 0.00 (-23) DG: 0.00 (-7) DL: 0.00 (-49) | ||
| Intron 11 | c.1584+3634_1584+3641del8 | not reported | Suspicion of CF:1 | - | - | ||
| Intron 11 | c.1584+3708A>G | not reported | Asymptomatic:11 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:21 | 0.32653 | AG: 0.00 (-6) AL: 0.00 (2) DG: 0.00 (43) DL: 0.00 (1) | ||
| Intron 11 | c.1584+3765A>G | not reported | Suspicion of CF:1 | 0.000126 | AG: 0.00 (-1) AL: 0.00 (30) DG: 0.43 (-1) DL: 0.00 (19) | ||
| 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.1584+4753A>G | not reported | Asymptomatic:1 Suspicion of CF:3 | 0.114291 | AG: 0.00 (-14) AL: 0.00 (5) DG: 0.00 (50) DL: 0.00 (-33) | ||
| Intron 11 | c.1584+475T>C | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.017328 | AG: 0.00 (-49) AL: 0.00 (40) DG: 0.00 (12) DL: 0.00 (-2) | ||
| Intron 11 | c.1584+5096C>T | not reported | Asymptomatic:1 CFTR-RD:1 | 0.007729 | AG: 0.00 (-22) AL: 0.00 (-6) DG: 0.00 (-2) DL: 0.02 (36) | ||
| Intron 11 | c.1584+5097G>A | not reported | CF:1 | 0.000154 | AG: 0.00 (-7) AL: 0.00 (18) DG: 0.00 (35) DL: 0.00 (-1) | ||
| Intron 11 | c.1584+5485C>G | not reported | CFTR-RD:1 | 0.000796 | AG: 0.00 (0) AL: 0.00 (34) DG: 0.00 (34) DL: 0.00 (-30) | ||
| Intron 11 | c.1584+5806C>A | not reported | Suspicion of CF:1 | 0.000286 | AG: 0.00 (-18) AL: 0.00 (10) DG: 0.00 (-21) DL: 0.00 (-18) | ||
| Intron 11 | c.1584+6551G>A | not reported | Suspicion of CF:1 | 5.6e-05 | AG: 0.00 (-20) AL: 0.00 (12) DG: 0.00 (-4) DL: 0.00 (-31) | ||
| Intron 11 | c.1584+6622_1584+6631dup10 | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:2 | 0.023756 | - | ||
| Intron 11 | c.1584+6624_1584+6631dup8 | not reported | Asymptomatic:3 | 0.032562 | - | ||
| Intron 11 | c.1584+6626_1584+6631dup6 | not reported | CFTR-RD:1 Pending (NBS):1 Suspicion of CF:1 | - | - | ||
| Intron 11 | c.1584+6628_1584+6631delACAC | not reported | CFTR-RD:1 Suspicion of CF:1 | - | - | ||
| Intron 11 | c.1584+6628_1584+6631dupACAC | not reported | CFTR-RD:4 Pending (NBS):3 Suspicion of CF:2 | - | - | ||
| Intron 11 | c.1584+6630_1584+6631delAC | not reported | Asymptomatic:9 CF:6 CFTR-RD:5 Infertility:2 Pending (NBS):6 Suspicion of CF:8 | 0 | AG: 0.00 (39) AL: 0.00 (23) DG: 0.00 (-46) DL: 0.00 (18) | ||
| Intron 11 | c.1584+6630_1584+6631dupAC | not reported | CF:1 CFTR-RD:1 Suspicion of CF:1 | 0.063173 | - | ||
| Intron 11 | c.1584+6633A>C | not reported | Pending (NBS):1 | 1.8e-05 | AG: 0.00 (6) AL: 0.00 (2) DG: 0.00 (50) DL: 0.00 (-28) | ||
| Intron 11 | c.1584+6634G>A | not reported | Pending (NBS):1 | 2.6e-05 | AG: 0.00 (27) AL: 0.00 (1) DG: 0.00 (-17) DL: 0.00 (-23) | ||
| Intron 11 | c.1584+6959dupA | not reported | Asymptomatic:14 CF:9 CFTR-RD:12 Pending (NBS):9 Suspicion of CF:6 | 0.109402 | AG: 0.00 (49) AL: 0.00 (28) DG: 0.00 (-39) DL: 0.00 (-46) | ||
| Intron 11 | c.1584+6986G>A | not reported | Suspicion of CF:3 | 0.011733 | AG: 0.00 (2) AL: 0.00 (-4) DG: 0.00 (-3) DL: 0.00 (12) | ||
| Intron 11 | c.1584+7174A>G | not reported | Suspicion of CF:2 | 0.054149 | AG: 0.00 (-27) AL: 0.00 (4) DG: 0.00 (28) DL: 0.00 (2) | ||
| Intron 11 | c.1584+7232T>G | not reported | Asymptomatic:11 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:19 | 0.171269 | AG: 0.00 (-1) AL: 0.00 (-30) DG: 0.00 (-1) DL: 0.00 (-30) | ||
| Intron 11 | c.1584+772G>C | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.254599 | AG: 0.00 (12) AL: 0.00 (-5) DG: 0.00 (-21) DL: 0.00 (-5) | ||
| Intron 11 | c.1584+7991G>A | not reported | CFTR-RD:1 | 2.8e-05 | AG: 0.00 (35) AL: 0.00 (1) DG: 0.00 (2) DL: 0.00 (0) | ||
| Intron 11 | c.1584+801G>T | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 0.238975 | AG: 0.00 (-2) AL: 0.00 (46) DG: 0.00 (-34) DL: 0.00 (0) | ||
| Intron 11 | c.1584+8151C>A | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:31 | 0.410403 | AG: 0.00 (48) AL: 0.00 (-29) DG: 0.00 (-1) DL: 0.00 (35) | ||
| Intron 11 | c.1584+8690A>G | not reported | Asymptomatic:1 | 0.000517 | AG: 0.00 (0) AL: 0.00 (43) DG: 0.00 (-1) DL: 0.00 (43) | ||
| Intron 11 | c.1584+8917A>G | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.048392 | AG: 0.00 (1) AL: 0.00 (31) DG: 0.00 (-1) DL: 0.00 (40) | ||
| Intron 11 | c.1584+9563C>T | not reported | Pending (NBS):1 | 0.004449 | AG: 0.00 (-3) AL: 0.00 (-5) DG: 0.00 (-2) DL: 0.00 (-4) | ||
| Intron 11 | c.1585-10068C>T | not reported | Asymptomatic:11 CF:12 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:17 | 0.203793 | AG: 0.00 (-33) AL: 0.00 (-19) DG: 0.00 (-43) DL: 0.00 (-19) | ||
| Intron 11 | c.1585-10072C>T | not reported | Asymptomatic:24 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.553369 | AG: 0.00 (10) AL: 0.00 (-15) DG: 0.00 (-17) DL: 0.00 (-15) | ||
| Intron 11 | c.1585-10212G>A | not reported | CFTR-RD:1 Pending (NBS):1 | 0.001439 | AG: 0.00 (49) AL: 0.00 (-5) DG: 0.00 (27) DL: 0.00 (-5) | ||
| Intron 11 | c.1585-10330T>A | not reported | Asymptomatic:1 Suspicion of CF:2 | 0.104062 | AG: 0.00 (2) AL: 0.01 (-40) DG: 0.00 (2) DL: 0.00 (34) | ||
| Intron 11 | c.1585-10516G>C | not reported | CF:1 | 3.5e-05 | AG: 0.00 (-43) AL: 0.00 (1) DG: 0.00 (1) DL: 0.00 (-39) | ||
| Intron 11 | c.1585-10659T>C | not reported | CF:1 CFTR-RD:1 Suspicion of CF:1 | 0.008635 | AG: 0.00 (24) AL: 0.00 (14) DG: 0.00 (-26) DL: 0.00 (-5) | ||
| 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) | ||
| Intron 11 | c.1585-11125T>C | not reported | CF:1 | 0.000307 | AG: 0.00 (1) AL: 0.00 (25) DG: 0.00 (-4) DL: 0.00 (43) | ||
| Intron 11 | c.1585-11312G>T | not reported | Asymptomatic:1 | 0.001201 | AG: 0.00 (9) AL: 0.00 (43) DG: 0.00 (-37) DL: 0.00 (43) | ||
| Intron 11 | c.1585-11786_1585-11779del8 | not reported | Asymptomatic:1 | - | - | ||
| Intron 11 | c.1585-12202G>C | not reported | Asymptomatic:2 Suspicion of CF:1 | 0.006548 | AG: 0.00 (12) AL: 0.00 (1) DG: 0.00 (11) DL: 0.00 (48) | ||
| Intron 11 | c.1585-12768C>T | not reported | CFTR-RD:1 Pending (NBS):1 | 0.008642 | AG: 0.00 (27) AL: 0.00 (45) DG: 0.00 (-11) DL: 0.00 (-48) | ||
| Intron 11 | c.1585-12841T>G | not reported | Suspicion of CF:1 | 0.000796 | AG: 0.00 (11) AL: 0.00 (-30) DG: 0.00 (21) DL: 0.00 (25) | ||
| Intron 11 | c.1585-13074_1585-13063del12 | not reported | Asymptomatic:1 | - | - | ||
| Intron 11 | c.1585-13322T>G | not reported | Asymptomatic:11 CF:12 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:15 | 0.071933 | AG: 0.03 (-33) AL: 0.00 (26) DG: 0.00 (21) DL: 0.00 (-7) | ||
| Intron 11 | c.1585-13342A>G | not reported | Suspicion of CF:1 | 0.020744 | AG: 0.07 (-13) AL: 0.00 (17) DG: 0.00 (41) DL: 0.00 (1) | ||
| Intron 11 | c.1585-13420G>C | not reported | Asymptomatic:11 CF:12 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:18 | 0.214347 | AG: 0.00 (21) AL: 0.00 (38) DG: 0.00 (-8) DL: 0.00 (-45) | ||
| Intron 11 | c.1585-13519G>A | not reported | CFTR-RD:1 | 0.000371 | AG: 0.00 (42) AL: 0.00 (-3) DG: 0.00 (41) DL: 0.00 (-5) | ||
| Intron 11 | c.1585-13589T>G | not reported | CFTR-RD:1 | - | AG: 0.00 (-16) AL: 0.00 (-2) DG: 0.00 (11) DL: 0.00 (-2) | ||
| Intron 11 | c.1585-1361A>G | not reported | Suspicion of CF:1 | 0.004698 | AG: 0.00 (-34) AL: 0.00 (33) DG: 0.00 (13) DL: 0.00 (-15) | ||
| Intron 11 | c.1585-13644G>C | not reported | Suspicion of CF:1 | 0.000217 | AG: 0.00 (-36) AL: 0.00 (19) DG: 0.00 (-36) DL: 0.00 (-1) | ||
| Intron 11 | c.1585-13668T>C | not reported | Asymptomatic:13 CF:7 CFTR-RD:13 Infertility:1 Pending (NBS):11 Suspicion of CF:22 | 0.349739 | AG: 0.00 (-12) AL: 0.00 (11) DG: 0.00 (-12) DL: 0.00 (-33) | ||
| Intron 11 | c.1585-13704T>C | not reported | Asymptomatic:3 CF:2 CFTR-RD:3 Pending (NBS):2 Suspicion of CF:6 | 0.18158 | AG: 0.00 (-2) AL: 0.00 (24) DG: 0.00 (1) DL: 0.00 (24) | ||
| Intron 11 | c.1585-14024G>A | not reported | Suspicion of CF:1 | 0.01663 | AG: 0.00 (3) AL: 0.00 (-47) DG: 0.00 (3) DL: 0.00 (16) | ||
| Intron 11 | c.1585-1522C>T | not reported | Suspicion of CF:1 | 0.000915 | AG: 0.00 (13) AL: 0.00 (-32) DG: 0.00 (-33) DL: 0.00 (17) | ||
| Intron 11 | c.1585-2007C>T | not reported | Suspicion of CF:3 | 0.001564 | AG: 0.00 (2) AL: 0.00 (-45) DG: 0.00 (-32) DL: 0.00 (4) | ||
| Intron 11 | c.1585-2148C>T | not reported | Asymptomatic:1 | 0.007662 | AG: 0.00 (-41) AL: 0.00 (28) DG: 0.00 (-17) DL: 0.00 (46) | ||
| Intron 11 | c.1585-2634C>T | not reported | Asymptomatic:14 CF:7 CFTR-RD:13 Infertility:1 Pending (NBS):11 Suspicion of CF:23 | 0.440286 | AG: 0.00 (32) AL: 0.00 (2) DG: 0.00 (-21) DL: 0.00 (-26) | ||
| Intron 11 | c.1585-2785_1585-2781del5 | not reported | Asymptomatic:2 CF:1 CFTR-RD:1 Suspicion of CF:5 | 1.5e-05 | - | ||
| Intron 11 | c.1585-2801delT | not reported | Asymptomatic:12 CF:6 CFTR-RD:13 Infertility:1 Pending (NBS):11 Suspicion of CF:8 | 0 | AG: 0.00 (30) AL: 0.00 (-3) DG: 0.00 (-43) DL: 0.00 (30) | ||
| Intron 11 | c.1585-2810delT | not reported | Asymptomatic:2 CFTR-RD:2 Pending (NBS):2 | 0.00021 | AG: 0.00 (47) AL: 0.00 (1) DG: 0.00 (-26) DL: 0.00 (47) | ||
| Intron 11 | c.1585-2813T>G | not reported | Asymptomatic:2 CF:2 Suspicion of CF:8 | 0.083338 | AG: 0.00 (-35) AL: 0.00 (-8) DG: 0.00 (-35) DL: 0.00 (38) | ||
| Intron 11 | c.1585-2813_1585-2810delTTTT | not reported | Asymptomatic:2 CFTR-RD:1 | - | - | ||
| Intron 11 | c.1585-2915T>C | not reported | Asymptomatic:1 | 0.048145 | AG: 0.00 (-45) AL: 0.00 (28) DG: 0.00 (33) DL: 0.00 (-3) | ||
| Intron 11 | c.1585-3069C>A | not reported | Asymptomatic:23 CF:16 CFTR-RD:17 Pending (NBS):15 Suspicion of CF:16 | 0.551349 | AG: 0.00 (26) AL: 0.00 (24) DG: 0.00 (-1) DL: 0.00 (34) | ||
| Intron 11 | c.1585-3120T>C | not reported | Suspicion of CF:1 | 0.011199 | AG: 0.00 (-22) AL: 0.00 (47) DG: 0.00 (14) DL: 0.00 (-39) | ||
| Intron 11 | c.1585-3143G>A | not reported | Asymptomatic:1 | 0.007658 | AG: 0.00 (1) AL: 0.00 (39) DG: 0.00 (1) DL: 0.00 (-33) | ||
| 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.1585-3353G>A | not reported | Asymptomatic:31 CF:20 CFTR-RD:23 Infertility:2 Pending (NBS):17 Suspicion of CF:43 | 0.996343 | AG: 0.00 (2) AL: 0.00 (-33) DG: 0.00 (4) DL: 0.00 (40) | ||
| Intron 11 | c.1585-3710dupT | not reported | CFTR-RD:1 | - | AG: 0.00 (28) AL: 0.00 (-44) DG: 0.00 (20) DL: 0.00 (-1) | ||
| Intron 11 | c.1585-4029G>A | not reported | Asymptomatic:14 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:19 | 0.389697 | AG: 0.00 (4) AL: 0.00 (-26) DG: 0.00 (3) DL: 0.00 (4) | ||
| Intron 11 | c.1585-4086delT | not reported | Asymptomatic:7 CFTR-RD:5 Pending (NBS):3 Suspicion of CF:5 | 0 | AG: 0.00 (50) AL: 0.00 (42) DG: 0.00 (-10) DL: 0.00 (-6) | ||
| Intron 11 | c.1585-4087_1585-4086delTT | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 | - | - | ||
| Intron 11 | c.1585-4203A>G | not reported | Asymptomatic:24 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.552155 | AG: 0.00 (45) AL: 0.00 (2) DG: 0.00 (0) DL: 0.00 (2) | ||
| Intron 11 | c.1585-4205A>G | not reported | CFTR-RD:1 | 0.015963 | AG: 0.00 (-50) AL: 0.00 (4) DG: 0.00 (-1) DL: 0.00 (4) | ||
| Intron 11 | c.1585-4349G>C | not reported | Asymptomatic:31 CF:20 CFTR-RD:23 Infertility:2 Pending (NBS):17 Suspicion of CF:43 | 1 | AG: 0.00 (-37) AL: 0.00 (-8) DG: 0.00 (13) DL: 0.00 (-1) | ||
| Intron 11 | c.1585-4351T>C | not reported | Asymptomatic:31 CF:20 CFTR-RD:23 Infertility:2 Pending (NBS):17 Suspicion of CF:43 | 0.999993 | AG: 0.00 (-6) AL: 0.00 (47) DG: 0.00 (15) DL: 0.00 (-33) | ||
| 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.1585-4416C>T | not reported | Suspicion of CF:1 | 0.046472 | AG: 0.00 (49) AL: 0.00 (50) DG: 0.00 (-13) DL: 0.00 (-39) | ||
| 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.1585-4416dupC | not reported | Asymptomatic:1 | 0.019245 | AG: 0.00 (-7) AL: 0.00 (-30) DG: 0.00 (-12) DL: 0.00 (-30) | ||
| 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.1585-5555A>G | not reported | Asymptomatic:3 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.101785 | AG: 0.00 (-21) AL: 0.00 (32) DG: 0.00 (-1) DL: 0.00 (-21) | ||
| Intron 11 | c.1585-5908G>A | not reported | CFTR-RD:1 | 0.00454 | AG: 0.00 (48) AL: 0.01 (-35) DG: 0.00 (-35) DL: 0.00 (1) | ||
| Intron 11 | c.1585-594A>G | not reported | CF:1 | 0.000503 | AG: 0.00 (-26) AL: 0.00 (-46) DG: 0.00 (-1) DL: 0.00 (23) | ||
| Intron 11 | c.1585-618A>G | not reported | Asymptomatic:1 | - | - | ||
| Intron 11 | c.1585-6356C>T | not reported | Asymptomatic:1 | 0.000377 | AG: 0.00 (19) AL: 0.00 (45) DG: 0.00 (-20) DL: 0.00 (45) | ||
| Intron 11 | c.1585-6754C>T | not reported | Suspicion of CF:1 | 9.8e-05 | AG: 0.00 (11) AL: 0.01 (-43) DG: 0.00 (11) DL: 0.01 (20) | ||
| Intron 11 | c.1585-6787G>A | not reported | Asymptomatic:14 CF:13 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:19 | 0.387833 | AG: 0.00 (2) AL: 0.01 (-10) DG: 0.00 (-7) DL: 0.00 (-10) | ||
| Intron 11 | c.1585-6789T>C | not reported | Pending (NBS):1 | 0.000126 | AG: 0.01 (-8) AL: 0.00 (32) DG: 0.00 (-8) DL: 0.00 (-2) | ||
| Intron 11 | c.1585-6932A>G | not reported | Asymptomatic:14 CF:13 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:22 | 0.388384 | AG: 0.00 (41) AL: 0.00 (2) DG: 0.00 (40) DL: 0.00 (1) | ||
| Intron 11 | c.1585-7109G>A | not reported | Asymptomatic:3 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.101289 | AG: 0.00 (46) AL: 0.00 (0) DG: 0.00 (25) DL: 0.00 (-44) | ||
| Intron 11 | c.1585-7236G>C | not reported | Suspicion of CF:1 | 0.003837 | AG: 0.00 (7) AL: 0.00 (-44) DG: 0.00 (23) DL: 0.00 (24) | ||
| Intron 11 | c.1585-7257A>G | not reported | Suspicion of CF:1 | 0.000105 | AG: 0.00 (-23) AL: 0.00 (6) DG: 0.00 (44) DL: 0.00 (6) | ||
| Intron 11 | c.1585-7259A>C | not reported | CF:1 | - | AG: 0.00 (-21) AL: 0.00 (1) DG: 0.00 (46) DL: 0.00 (1) | ||
| Intron 11 | c.1585-7357G>T | not reported | CF:2 Suspicion of CF:1 | 0.000112 | AG: 0.00 (23) AL: 0.00 (16) DG: 0.00 (5) DL: 0.00 (-25) | ||
| Intron 11 | c.1585-7390A>G | not reported | Asymptomatic:11 CF:12 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:18 | 0.215698 | AG: 0.00 (-38) AL: 0.00 (-39) DG: 0.00 (8) DL: 0.00 (-39) | ||
| Intron 11 | c.1585-7695_1585-7670del26 | not reported | Pending (NBS):1 | - | - | ||
| Intron 11 | c.1585-7958C>T | not reported | Asymptomatic:3 CF:2 CFTR-RD:3 Pending (NBS):2 Suspicion of CF:4 | 0.173453 | AG: 0.00 (40) AL: 0.00 (-4) DG: 0.00 (-2) DL: 0.00 (11) | ||
| Intron 11 | c.1585-7995G>C | not reported | Asymptomatic:1 CFTR-RD:1 | 0.015277 | AG: 0.00 (11) AL: 0.00 (-21) DG: 0.00 (32) DL: 0.00 (50) | ||
| Intron 11 | c.1585-8054dupA | not reported | Asymptomatic:19 CF:10 CFTR-RD:17 Infertility:1 Pending (NBS):15 Suspicion of CF:9 | 0.004612 | AG: 0.00 (-13) AL: 0.00 (40) DG: 0.00 (-28) DL: 0.00 (-22) | ||
| Intron 11 | c.1585-8364A>G | not reported | CFTR-RD:1 | - | - | ||
| Intron 11 | c.1585-8612G>A | not reported | CFTR-RD:1 | 0.038494 | AG: 0.00 (29) AL: 0.00 (-50) DG: 0.00 (-11) DL: 0.00 (-1) | ||
| Intron 11 | c.1585-889G>A | not reported | Asymptomatic:7 CF:3 CFTR-RD:6 Pending (NBS):3 Suspicion of CF:13 | 0.110477 | AG: 0.00 (2) AL: 0.00 (-19) DG: 0.00 (-11) DL: 0.01 (17) | ||
| 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) | ||
| Intron 11 | c.1585-9049G>C | not reported | Pending (NBS):1 | 2.8e-05 | AG: 0.00 (3) AL: 0.00 (-19) DG: 0.00 (-20) DL: 0.00 (15) | ||
| Intron 11 | c.1585-9167_1585-9155dup13 | not reported | - | - | |||
| Intron 11 | c.1585-9284G>A | not reported | Suspicion of CF:1 | 2.8e-05 | AG: 0.00 (5) AL: 0.00 (1) DG: 0.00 (-31) DL: 0.00 (-1) | ||
| Intron 11 | c.1585-953dupT | not reported | Asymptomatic:3 CF:2 CFTR-RD:8 Pending (NBS):3 Suspicion of CF:5 | 0.000872 | AG: 0.00 (16) AL: 0.00 (15) DG: 0.00 (-33) DL: 0.00 (15) | ||
| Intron 11 | c.1585-9634T>A | not reported | Asymptomatic:13 CF:13 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:22 | 0.387319 | AG: 0.00 (34) AL: 0.00 (18) DG: 0.00 (1) DL: 0.00 (-25) | ||
| Intron 11 | c.1585-9647C>T | not reported | CFTR-RD:1 | 0.014026 | AG: 0.00 (-2) AL: 0.00 (47) DG: 0.00 (-2) DL: 0.00 (2) | ||
| Intron 11 | c.1585-9774T>C | not reported | CF:1 | - | AG: 0.00 (-27) AL: 0.00 (-6) DG: 0.00 (40) DL: 0.00 (-32) | ||
| Intron 11 | c.1585-9806T>C | not reported | Asymptomatic:11 CF:12 CFTR-RD:9 Pending (NBS):13 Suspicion of CF:15 | 0.062981 | AG: 0.00 (1) AL: 0.00 (5) DG: 0.00 (44) DL: 0.00 (5) | ||
| Intron 12 | c.1680-717A>G | non disease-causing | Asymptomatic:1 | - | - | ||
| Intron 12 | c.1680-870T>A | 1811+1650T>A | non disease-causing | Asymptomatic:24 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | Asymptomatic:21 CF:79 CFTR-RD:233 Fetal bowel anomalies:2 Pending:44 | 0.551573 | AG: 0.00 (10) AL: 0.00 (-8) DG: 0.00 (-19) DL: 0.02 (-13) |
| Intron 12 | c.1679+1G>C | 1811+1G>C | disease-causing | CF:3 | - | - | |
| Intron 12 | c.1680-1G>A | 1812-1G>A | disease-causing | CF:4 | - | - | |
| Intron 12 | c.1680-877G>T | 1811+1643G->T | disease-causing | - | - | ||
| Intron 12 | c.1680-883A>G | disease-causing | Asymptomatic:2 CF:1 | CF:3 | - | AG: 0.11 (-49) AL: 0.00 (37) DG: 0.72 (0) DL: 0.00 (5) | |
| Intron 12 | c.1680-886A>G | 1811+1.6kbA>G | disease-causing | CF:26 CFTR-RD:1 | - | - | |
| Intron 12 | c.1679+18G>A | 1811+18G->A | VUS | - | - | ||
| Intron 12 | c.1679+694_2490+281dup | VUS | CFTR-RD:1 | - | - | ||
| Intron 12 | c.1679+9C>G | VUS | - | - | |||
| Intron 12 | c.1680-871A>G | VUS | CFTR-RD:2 | - | - | ||
| Intron 12 | c.1680-871_1680-870delATinsGA | VUS | CF:1 | - | - | ||
| Intron 12 | c.1680-981T>C | VUS | CF:1 | - | - | ||
| Intron 12 | c.1680-99T>C | 1812- 99 T- >C | VUS | CFTR-RD:2 | - | - | |
| Intron 12 | c.1679+1125C>G | not reported | Suspicion of CF:1 | 0.018817 | AG: 0.00 (0) AL: 0.00 (-40) DG: 0.00 (-1) DL: 0.00 (4) | ||
| Intron 12 | c.1679+1148A>C | not reported | Suspicion of CF:1 | 0.001634 | AG: 0.00 (-19) AL: 0.00 (20) DG: 0.00 (-19) DL: 0.00 (-50) | ||
| Intron 12 | c.1680-1071A>G | not reported | Asymptomatic:24 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.551578 | AG: 0.00 (-9) AL: 0.00 (2) DG: 0.00 (30) DL: 0.00 (-38) | ||
| Intron 12 | c.1680-1240G>A | not reported | Asymptomatic:24 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.551614 | AG: 0.00 (21) AL: 0.00 (17) DG: 0.00 (26) DL: 0.00 (-36) | ||
| Intron 12 | c.1680-124T>C | not reported | Asymptomatic:1 Suspicion of CF:2 | 0.099192 | AG: 0.00 (-34) AL: 0.00 (6) DG: 0.00 (17) DL: 0.00 (-5) | ||
| Intron 12 | c.1680-414C>T | not reported | Asymptomatic:24 CF:17 CFTR-RD:19 Infertility:1 Pending (NBS):17 Suspicion of CF:30 | 0.551829 | AG: 0.00 (-32) AL: 0.00 (-23) DG: 0.00 (-14) DL: 0.00 (24) | ||
| Intron 12 | c.1680-450C>T | not reported | CFTR-RD:1 | 0.000517 | AG: 0.00 (3) AL: 0.00 (-42) DG: 0.00 (-2) DL: 0.00 (22) | ||
| Intron 12 | c.1680-570G>T | not reported | Asymptomatic:24 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:29 | 0.551555 | AG: 0.00 (-2) AL: 0.00 (-1) DG: 0.00 (-2) DL: 0.00 (-1) | ||
| Intron 12 | c.1680-588A>G | not reported | Asymptomatic:24 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:31 | 0.551341 | AG: 0.00 (-16) AL: 0.00 (-43) DG: 0.00 (17) DL: 0.00 (-18) | ||
| Intron 13 | c.1766+152T>A | 1898+152T/A | non disease-causing | Asymptomatic:14 CF:7 CFTR-RD:12 Infertility:1 Pending (NBS):11 Suspicion of CF:24 | Asymptomatic:1 CF:23 CFTR-RD:65 Pending:9 | 0.434603 | AG: 0.00 (2) AL: 0.00 (16) DG: 0.00 (20) DL: 0.00 (-41) |
| Intron 13 | c.1766+1G>A | 1898+1G>A | disease-causing | CF:6 | - | - | |
| Intron 13 | c.1766+1G>C | 1898+1G>C | disease-causing | CF:1 | - | - | |
| Intron 13 | c.1766+3A>C | 1898+3A>C | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Intron 13 | c.1766+3A>G | 1898+3A>G | disease-causing | CF:4 | - | - | |
| Intron 13 | c.1766+5G>A | 1898+5G>A | disease-causing | CF:4 | - | - | |
| Intron 13 | c.1766+5G>T | 1898+5G>T | disease-causing | CFTR-RD:1 | - | - | |
| Intron 13 | c.1766+73T>G | 1898+73T>G | VUS | Suspicion of CF:1 | Asymptomatic:1 CF:1 CFTR-RD:2 | 0.000349 | AG: 0.00 (38) AL: 0.00 (-1) DG: 0.00 (38) DL: 0.00 (-16) |
| Intron 13 | c.1767-12T>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 13 | c.1767-58G>C | VUS | Asymptomatic:1 | - | - | ||
| Intron 13 | c.1766+287T>C | not reported | Asymptomatic:3 CF:3 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.097383 | AG: 0.00 (-13) AL: 0.00 (-40) DG: 0.00 (-15) DL: 0.00 (-2) | ||
| Intron 13 | c.1766+492_1766+511del20 | not reported | Asymptomatic:1 | - | - | ||
| Intron 13 | c.1766+653C>T | not reported | Asymptomatic:31 CF:20 CFTR-RD:22 Infertility:2 Pending (NBS):17 Suspicion of CF:43 | 0.968943 | AG: 0.00 (-34) AL: 0.00 (-42) DG: 0.00 (-28) DL: 0.00 (16) | ||
| Intron 13 | c.1767-136T>C | not reported | Asymptomatic:11 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:17 | 0.205958 | AG: 0.00 (-8) AL: 0.00 (-30) DG: 0.00 (26) DL: 0.00 (-30) | ||
| Intron 13 | c.1767-290C>T | not reported | Suspicion of CF:1 | 6.3e-05 | AG: 0.00 (15) AL: 0.02 (-20) DG: 0.00 (-38) DL: 0.00 (-20) | ||
| Intron 14 | c.2490+1G>A | 2622+1G>A | disease-causing | Asymptomatic:1 CF:10 CFTR-RD:2 Pending:1 | - | - | |
| Intron 14 | c.2490+2T>C | 2622+2T>C | VUS | Asymptomatic:2 | - | - | |
| Intron 14 | c.2490+4_2490+7del | VUS | - | - | |||
| Intron 14 | c.2490+5G>T | VUS | - | - | |||
| Intron 14 | c.2491-51T>C | 2623-51T>C | VUS | Pending:1 | - | - | |
| Intron 14 | c.2490+1034G>A | not reported | Asymptomatic:1 | - | AG: 0.01 (-50) AL: 0.00 (0) DG: 0.00 (47) DL: 0.00 (-1) | ||
| Intron 14 | c.2490+1105delA | not reported | CFTR-RD:1 | 0.01591 | AG: 0.00 (18) AL: 0.00 (21) DG: 0.00 (7) DL: 0.00 (-22) | ||
| Intron 14 | c.2490+424G>A | not reported | Asymptomatic:1 | 7e-05 | AG: 0.00 (12) AL: 0.00 (1) DG: 0.00 (-16) DL: 0.00 (1) | ||
| Intron 14 | c.2490+876A>G | not reported | Asymptomatic:1 Suspicion of CF:4 | 0.005807 | AG: 0.00 (48) AL: 0.00 (-16) DG: 0.00 (-47) DL: 0.00 (-16) | ||
| Intron 14 | c.2490+983G>C | not reported | Asymptomatic:24 CF:17 CFTR-RD:19 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.551005 | AG: 0.02 (-23) AL: 0.01 (1) DG: 0.00 (14) DL: 0.00 (1) | ||
| Intron 14 | c.2491-447A>G | not reported | Asymptomatic:24 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.551492 | AG: 0.00 (9) AL: 0.00 (2) DG: 0.00 (9) DL: 0.00 (2) | ||
| Intron 14 | c.2491-586T>A | not reported | Asymptomatic:11 CF:12 CFTR-RD:10 Pending (NBS):13 Suspicion of CF:17 | 0.107947 | AG: 0.00 (2) AL: 0.00 (33) DG: 0.00 (-3) DL: 0.00 (-50) | ||
| Intron 14 | c.2491-64A>G | not reported | Suspicion of CF:1 | 0.000216 | AG: 0.00 (45) AL: 0.00 (2) DG: 0.00 (37) DL: 0.00 (-36) | ||
| Intron 14 | c.2491-784C>T | not reported | Infertility:1 | - | AG: 0.00 (0) AL: 0.00 (-49) DG: 0.00 (-2) DL: 0.00 (22) | ||
| Intron 14 | c.2491-808G>A | not reported | Asymptomatic:24 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.55185 | AG: 0.00 (2) AL: 0.00 (-25) DG: 0.00 (-42) DL: 0.00 (46) | ||
| Intron 14 | c.2491-896G>A | not reported | Suspicion of CF:1 | - | AG: 0.00 (16) AL: 0.00 (-5) DG: 0.00 (36) DL: 0.00 (0) | ||
| Intron 14 | c.2491-92T>G | not reported | Suspicion of CF:1 | 0.000363 | AG: 0.00 (-13) AL: 0.00 (26) DG: 0.00 (-8) DL: 0.00 (-2) | ||
| Intron 15 | c.2619+86_2619+87del | non disease-causing | Asymptomatic:17 CF:17 CFTR-RD:87 Fetal bowel anomalies:1 Pending:17 | - | - | ||
| Intron 15 | c.2619+86_2619+87delTA | non disease-causing | Asymptomatic:13 CF:4 CFTR-RD:12 Infertility:1 Pending (NBS):11 Suspicion of CF:23 | 0.439136 | AG: 0.00 (30) AL: 0.00 (36) DG: 0.00 (-46) DL: 0.00 (8) | ||
| Intron 15 | c.2620-26A>G | 2752-26A>G | non disease-causing | Asymptomatic:3 CFTR-RD:1 | - | - | |
| Intron 15 | c.2620-6T>C | 2752-6T->C | non disease-causing | CFTR-RD:1 | - | - | |
| Intron 15 | c.(2619+1_2620-1)_(3367+1_3368-1)del | disease-causing | Pending:1 | - | - | ||
| Intron 15 | c.2619+106T>A | VUS | Asymptomatic:2 CF:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:5 | Asymptomatic:2 CF:1 CFTR-RD:12 Pending:2 | 0.099439 | AG: 0.00 (2) AL: 0.00 (7) DG: 0.00 (-18) DL: 0.00 (-14) | |
| Intron 15 | c.2619+20_2619+24del | IVS14a+17del5 | VUS | CFTR-RD:1 | - | - | |
| Intron 15 | c.2619+3A>G | 2751+3A>G | VUS | CFTR-RD:1 | - | - | |
| Intron 15 | c.2619+62T>C | VUS | - | - | |||
| Intron 15 | c.2620-15C>G | 2752-15C/G | VUS | Asymptomatic:2 | CFTR-RD:2 Pending:1 | 0.002087 | AG: 0.00 (-6) AL: 0.00 (15) DG: 0.00 (15) DL: 0.00 (48) |
| Intron 15 | c.2620-17G>T | VUS | CFTR-RD:1 | - | - | ||
| Intron 15 | c.2620-22A>G | 2752-22A/G | VUS | - | - | ||
| 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+1154T>C | not reported | Asymptomatic:6 CF:1 CFTR-RD:7 Infertility:1 Pending (NBS):5 Suspicion of CF:13 | 0.552869 | AG: 0.00 (-33) AL: 0.00 (14) DG: 0.00 (-34) DL: 0.00 (-6) | ||
| Intron 15 | c.2619+1460G>A | not reported | Suspicion of CF:1 | 0.00014 | AG: 0.00 (16) AL: 0.00 (-27) DG: 0.00 (36) DL: 0.00 (-27) | ||
| Intron 15 | c.2619+1569A>T | not reported | Suspicion of CF:1 | 0.010502 | AG: 0.00 (-46) AL: 0.00 (-22) DG: 0.00 (30) DL: 0.00 (-46) | ||
| Intron 15 | c.2619+1900C>T | not reported | Asymptomatic:1 Suspicion of CF:4 | 0.005584 | AG: 0.00 (25) AL: 0.00 (-22) DG: 0.00 (-2) DL: 0.00 (30) | ||
| Intron 15 | c.2619+1913C>T | not reported | CFTR-RD:1 | 4.9e-05 | AG: 0.00 (12) AL: 0.00 (-13) DG: 0.00 (-8) DL: 0.00 (33) | ||
| Intron 15 | c.2619+2166C>T | not reported | Asymptomatic:2 CF:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:5 | 0.100106 | AG: 0.03 (-26) AL: 0.02 (-46) DG: 0.00 (-2) DL: 0.00 (-46) | ||
| Intron 15 | c.2619+2216C>T | not reported | Asymptomatic:3 CF:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:7 | 0.225962 | AG: 0.00 (-28) AL: 0.00 (-50) DG: 0.00 (-2) DL: 0.00 (18) | ||
| Intron 15 | c.2619+2322C>T | not reported | Asymptomatic:1 Suspicion of CF:2 | 0.097322 | AG: 0.00 (20) AL: 0.00 (-50) DG: 0.00 (-29) DL: 0.00 (-25) | ||
| Intron 15 | c.2619+2715T>C | not reported | Pending (NBS):1 | 0.014952 | AG: 0.00 (-32) AL: 0.00 (13) DG: 0.00 (37) DL: 0.00 (-2) | ||
| Intron 15 | c.2619+2767dupA | not reported | CFTR-RD:1 Pending (NBS):1 | 0.003788 | AG: 0.00 (-27) AL: 0.00 (28) DG: 0.00 (-42) DL: 0.00 (42) | ||
| Intron 15 | c.2619+2772C>G | not reported | Suspicion of CF:1 | - | AG: 0.00 (11) AL: 0.00 (-44) DG: 0.00 (-20) DL: 0.00 (25) | ||
| 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) | ||
| Intron 15 | c.2619+2823C>T | not reported | Suspicion of CF:1 | 0.023375 | AG: 0.00 (21) AL: 0.00 (-40) DG: 0.00 (-29) DL: 0.00 (10) | ||
| Intron 15 | c.2619+3267T>G | not reported | Asymptomatic:26 CF:17 CFTR-RD:18 Infertility:1 Pending (NBS):17 Suspicion of CF:31 | 0.547986 | AG: 0.00 (0) AL: 0.00 (17) DG: 0.00 (0) DL: 0.00 (-37) | ||
| Intron 15 | c.2619+3333T>G | not reported | Asymptomatic:26 CF:17 CFTR-RD:18 Infertility:1 Pending (NBS):17 Suspicion of CF:32 | 0.553435 | AG: 0.00 (48) AL: 0.00 (37) DG: 0.00 (1) DL: 0.00 (-9) | ||
| Intron 15 | c.2619+3341A>C | not reported | Asymptomatic:4 CF:2 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:6 | 0.154952 | AG: 0.00 (43) AL: 0.00 (40) DG: 0.00 (42) DL: 0.00 (-7) | ||
| Intron 15 | c.2619+3364G>A | not reported | Asymptomatic:31 CF:19 CFTR-RD:23 Infertility:2 Pending (NBS):17 Suspicion of CF:43 | 0.999873 | AG: 0.00 (15) AL: 0.02 (46) DG: 0.00 (-30) DL: 0.00 (43) | ||
| Intron 15 | c.2619+3549_2619+3556del8 | not reported | Asymptomatic:1 | - | - | ||
| Intron 15 | c.2619+3608G>C | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.050123 | AG: 0.00 (26) AL: 0.00 (-28) DG: 0.00 (2) DL: 0.00 (-25) | ||
| Intron 15 | c.2619+3757_2619+3765del9 | not reported | Suspicion of CF:1 | - | - | ||
| Intron 15 | c.2619+438A>G | not reported | Asymptomatic:12 CF:4 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:14 | 0.440551 | AG: 0.00 (-4) AL: 0.00 (-37) DG: 0.00 (20) DL: 0.00 (-31) | ||
| Intron 15 | c.2619+727C>T | not reported | CFTR-RD:2 Pending (NBS):1 Suspicion of CF:1 | 0.004402 | AG: 0.00 (4) AL: 0.00 (-4) DG: 0.00 (-35) DL: 0.00 (4) | ||
| Intron 15 | c.2619+774A>G | not reported | Asymptomatic:21 CF:12 CFTR-RD:18 Infertility:1 Pending (NBS):17 Suspicion of CF:31 | 0.552008 | AG: 0.00 (-48) AL: 0.00 (26) DG: 0.00 (30) DL: 0.00 (-43) | ||
| Intron 15 | c.2620-1001G>A | not reported | Asymptomatic:1 | - | AG: 0.00 (49) AL: 0.00 (-46) DG: 0.00 (11) DL: 0.00 (48) | ||
| Intron 15 | c.2620-1021T>C | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:16 | 0.189319 | AG: 0.00 (-26) AL: 0.00 (9) DG: 0.00 (31) DL: 0.00 (-2) | ||
| Intron 15 | c.2620-1081G>A | not reported | Suspicion of CF:1 | 0.006446 | AG: 0.00 (7) AL: 0.00 (-22) DG: 0.00 (5) DL: 0.00 (-1) | ||
| Intron 15 | c.2620-1307delT | not reported | CFTR-RD:1 | 7e-06 | AG: 0.00 (-13) AL: 0.00 (-42) DG: 0.00 (-13) DL: 0.00 (50) | ||
| Intron 15 | c.2620-1372A>G | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):9 Suspicion of CF:9 | 0.185706 | AG: 0.00 (43) AL: 0.00 (14) DG: 0.00 (-1) DL: 0.00 (24) | ||
| Intron 15 | c.2620-1422A>G | not reported | CF:1 Suspicion of CF:1 | 0.007464 | AG: 0.00 (-1) AL: 0.00 (2) DG: 0.00 (24) DL: 0.00 (-26) | ||
| Intron 15 | c.2620-1486A>T | not reported | Asymptomatic:12 CF:8 CFTR-RD:10 Infertility:1 Pending (NBS):10 Suspicion of CF:18 | 0.328387 | AG: 0.00 (-20) AL: 0.00 (2) DG: 0.00 (38) DL: 0.00 (46) | ||
| Intron 15 | c.2620-1497G>A | not reported | CFTR-RD:1 | 0.037667 | AG: 0.00 (-9) AL: 0.00 (-1) DG: 0.00 (49) DL: 0.00 (-1) | ||
| Intron 15 | c.2620-180G>A | not reported | Suspicion of CF:1 | 0.015128 | AG: 0.00 (8) AL: 0.00 (1) DG: 0.00 (8) DL: 0.00 (-1) | ||
| Intron 15 | c.2620-1849C>A | not reported | Asymptomatic:18 CF:12 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:23 | 0.490101 | AG: 0.00 (2) AL: 0.00 (-33) DG: 0.00 (2) DL: 0.00 (0) | ||
| Intron 15 | c.2620-2212A>T | not reported | Asymptomatic:18 CF:12 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:25 | 0.479003 | AG: 0.00 (40) AL: 0.00 (13) DG: 0.00 (-6) DL: 0.00 (2) | ||
| Intron 15 | c.2620-2705G>A | not reported | Suspicion of CF:1 | 0.01059 | AG: 0.00 (38) AL: 0.00 (1) DG: 0.00 (-27) DL: 0.00 (1) | ||
| Intron 15 | c.2620-2757G>A | not reported | Suspicion of CF:1 | 0.00432 | AG: 0.00 (-8) AL: 0.00 (-13) DG: 0.00 (-9) DL: 0.00 (0) | ||
| Intron 15 | c.2620-2820A>G | not reported | CFTR-RD:1 Pending (NBS):1 | 0.009812 | AG: 0.00 (-16) AL: 0.00 (-18) DG: 0.00 (-40) DL: 0.00 (-16) | ||
| Intron 15 | c.2620-3192C>A | not reported | CFTR-RD:1 | 0.000517 | AG: 0.00 (22) AL: 0.00 (-1) DG: 0.00 (-40) DL: 0.00 (45) | ||
| Intron 15 | c.2620-3257_2620-3256delTT | not reported | Suspicion of CF:1 | 0.015124 | AG: 0.00 (-17) AL: 0.00 (-32) DG: 0.00 (26) DL: 0.00 (-3) | ||
| Intron 15 | c.2620-3342A>G | not reported | Asymptomatic:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:1 | 7.7e-05 | AG: 0.00 (-28) AL: 0.00 (-5) DG: 0.00 (-1) DL: 0.00 (-28) | ||
| Intron 15 | c.2620-3573G>T | not reported | Suspicion of CF:1 | 0.004706 | AG: 0.00 (43) AL: 0.00 (1) DG: 0.00 (-2) DL: 0.00 (38) | ||
| Intron 15 | c.2620-3663C>T | not reported | CF:1 | - | AG: 0.00 (25) AL: 0.00 (-14) DG: 0.00 (-6) DL: 0.00 (9) | ||
| Intron 15 | c.2620-367A>G | not reported | CFTR-RD:1 | 0.000516 | AG: 0.00 (-3) AL: 0.00 (16) DG: 0.00 (21) DL: 0.00 (1) | ||
| Intron 15 | c.2620-655C>T | not reported | Suspicion of CF:1 | 0.010589 | AG: 0.00 (5) AL: 0.00 (4) DG: 0.00 (4) DL: 0.00 (6) | ||
| Intron 15 | c.2620-757G>A | not reported | Suspicion of CF:1 | 0.004791 | AG: 0.00 (6) AL: 0.00 (-16) DG: 0.00 (4) DL: 0.00 (-16) | ||
| Intron 15 | c.2620-851_2620-849delATA | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:15 | 0.161761 | AG: 0.00 (-9) AL: 0.00 (46) DG: 0.00 (-5) DL: 0.00 (46) | ||
| Intron 15 | c.2620-900T>A | not reported | CF:1 | 0.001081 | AG: 0.00 (-3) AL: 0.00 (-24) DG: 0.00 (-3) DL: 0.00 (39) | ||
| Intron 16 | c.2657+2_2657+3insA | 2789+2insA | disease-causing | Asymptomatic:1 CFTR-RD:3 Pending:2 | - | - | |
| Intron 16 | c.2657+5G>A | 2789+5G>A | disease-causing | CF:66 CFTR-RD:35 Fetal bowel anomalies:1 Pending:19 | - | - | |
| Intron 16 | c.2658-1G>C | 2790-1G>C | disease-causing | CF:1 | - | - | |
| Intron 16 | c.2658-1G>T | 2790-1G>T | disease-causing | CF:1 | - | - | |
| Intron 16 | c.2657+66C>T | VUS | Pending:1 | - | - | ||
| Intron 16 | c.2658-13A>G | VUS | CF:1 | - | - | ||
| Intron 16 | c.2658-21G>A | 2790-21G/A | VUS | CFTR-RD:1 | - | - | |
| Intron 16 | c.2658-2A>G | 2790-2A>G | VUS | Asymptomatic:1 Pending:1 | - | - | |
| Intron 16 | c.2658-77T>A | VUS | CFTR-RD:1 | - | - | ||
| Intron 16 | c.2657+285C>A | not reported | Suspicion of CF:1 | 0.035159 | AG: 0.00 (-24) AL: 0.00 (11) DG: 0.00 (-24) DL: 0.00 (11) | ||
| Intron 17 | c.2909-71G>C | 3041-71G/C | non disease-causing | CFTR-RD:1 | Asymptomatic:2 CF:5 CFTR-RD:14 | 0.037669 | AG: 0.00 (11) AL: 0.00 (35) DG: 0.00 (-33) DL: 0.00 (-1) |
| Intron 17 | c.2909-92G>A | 3041-92G/A | non disease-causing | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:16 | Asymptomatic:14 CF:32 CFTR-RD:120 Pending:20 | 0.162344 | AG: 0.00 (22) AL: 0.00 (-11) DG: 0.00 (-7) DL: 0.00 (-5) |
| Intron 17 | c.2908+1G>A | disease-causing | CF:2 | - | - | ||
| Intron 17 | c.2909-15T>G | 3041-15T>G | disease-causing | CF:1 CFTR-RD:1 Pending:1 | - | - | |
| Intron 17 | c.2908+19G>A | VUS | CFTR-RD:1 | - | - | ||
| Intron 17 | c.2908+4C>A | VUS | CFTR-RD:1 | - | - | ||
| Intron 17 | c.2909-15T>C | VUS | CFTR-RD:1 | - | - | ||
| Intron 17 | c.2909-36T>G | VUS | Asymptomatic:1 | - | - | ||
| Intron 17 | c.2908+316G>A | not reported | CFTR-RD:1 | 0.000642 | AG: 0.00 (-11) AL: 0.00 (-48) DG: 0.00 (49) DL: 0.00 (-48) | ||
| Intron 17 | c.2908+390_2908+393delCTAT | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.049837 | AG: 0.00 (-7) AL: 0.00 (14) DG: 0.00 (25) DL: 0.00 (45) | ||
| Intron 17 | c.2908+809T>C | not reported | Suspicion of CF:1 | 0.015261 | AG: 0.00 (24) AL: 0.00 (7) DG: 0.00 (24) DL: 0.00 (-22) | ||
| Intron 17 | c.2908+877G>A | not reported | Suspicion of CF:1 | 0.015407 | AG: 0.00 (15) AL: 0.00 (-1) DG: 0.00 (-17) DL: 0.00 (10) | ||
| Intron 17 | c.2909-313G>A | not reported | CFTR-RD:1 | 0.00074 | AG: 0.00 (-45) AL: 0.00 (-22) DG: 0.00 (-45) DL: 0.00 (37) | ||
| Intron 17 | c.2909-362C>A | not reported | - | AG: 0.00 (4) AL: 0.00 (35) DG: 0.00 (4) DL: 0.00 (35) | |||
| Intron 17 | c.2909-413A>C | not reported | Asymptomatic:7 CF:5 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:6 | 0.150136 | AG: 0.00 (-4) AL: 0.00 (2) DG: 0.00 (-14) DL: 0.00 (-27) | ||
| Intron 17 | c.2909-533G>T | not reported | Asymptomatic:1 | 4.2e-05 | AG: 0.00 (-18) AL: 0.00 (1) DG: 0.00 (-12) DL: 0.00 (-46) | ||
| Intron 17 | c.2909-650G>A | not reported | Asymptomatic:11 CF:11 CFTR-RD:8 Pending (NBS):13 Suspicion of CF:12 | 0.016146 | AG: 0.00 (25) AL: 0.00 (-10) DG: 0.00 (-3) DL: 0.00 (16) | ||
| Intron 17 | c.2909-730_2909-720del11 | not reported | Asymptomatic:1 | - | - | ||
| Intron 17 | c.2909-746A>G | not reported | Suspicion of CF:1 | 0.022622 | AG: 0.00 (41) AL: 0.00 (14) DG: 0.00 (-6) DL: 0.00 (41) | ||
| Intron 17 | c.2909-863T>C | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.050047 | AG: 0.00 (50) AL: 0.00 (43) DG: 0.00 (23) DL: 0.01 (-6) | ||
| Intron 18 | c.2989-93A[12] | 3121-92A12/13 | non disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Intron 18 | c.2988+1616_3367+356delins62 | Del exon 17a-17b | disease-causing | CF:2 | - | - | |
| Intron 18 | c.2988+1G>A | 3120+1G>A | disease-causing | Suspicion of CF:1 | CF:28 CFTR-RD:6 Pending:7 | 0.000294 | AG: 0.00 (18) AL: 0.00 (0) DG: 0.00 (18) DL: 0.99 (-1) |
| Intron 18 | c.2989-1G>A | 3121-1G>A | disease-causing | Asymptomatic:2 CF:7 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Intron 18 | c.2989-2A>G | 3121-2A>G | disease-causing | CF:1 | - | - | |
| 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) | |
| Intron 18 | c.2989-303T>C | VUS | - | - | |||
| Intron 18 | c.2989-357C>T | VUS | Pending:1 | - | - | ||
| Intron 18 | c.2989-35G>A | VUS | CF:1 | - | - | ||
| Intron 18 | c.2989-3C>G | 3121-3C>G | VUS | CF:1 | - | - | |
| Intron 18 | c.2989-422G>T | VUS | 0.001705 | AG: 0.00 (27) AL: 0.00 (-10) DG: 0.00 (-15) DL: 0.00 (22) | |||
| Intron 18 | c.2989-69C>G | VUS | Pending:1 | - | - | ||
| Intron 18 | c.2988+1427T>G | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):9 Suspicion of CF:13 | 0.190339 | AG: 0.00 (45) AL: 0.00 (8) DG: 0.00 (6) DL: 0.00 (8) | ||
| Intron 18 | c.2988+1465delT | not reported | Asymptomatic:4 CF:1 Suspicion of CF:1 | 7e-06 | AG: 0.00 (-19) AL: 0.00 (43) DG: 0.00 (-29) DL: 0.00 (43) | ||
| Intron 18 | c.2988+1465dupT | not reported | Suspicion of CF:1 | - | - | ||
| Intron 18 | c.2988+1735T>C | not reported | CFTR-RD:1 Pending (NBS):1 | 0.028519 | AG: 0.00 (2) AL: 0.00 (47) DG: 0.01 (2) DL: 0.00 (-40) | ||
| Intron 18 | c.2988+444G>T | not reported | CFTR-RD:1 | 0.037105 | AG: 0.00 (16) AL: 0.00 (1) DG: 0.00 (14) DL: 0.00 (46) | ||
| Intron 18 | c.2988+636A>G | not reported | Asymptomatic:1 Suspicion of CF:2 | 0.1235 | AG: 0.00 (-27) AL: 0.00 (-1) DG: 0.00 (-21) DL: 0.00 (26) | ||
| Intron 18 | c.2989-124_2989-120del5 | not reported | Asymptomatic:1 | 0.000106 | - | ||
| Intron 18 | c.2989-1498T>C | not reported | Suspicion of CF:1 | 0.000677 | AG: 0.00 (-17) AL: 0.00 (39) DG: 0.00 (-33) DL: 0.00 (29) | ||
| Intron 18 | c.2989-1677T>C | not reported | Suspicion of CF:1 | 0.000244 | AG: 0.00 (-43) AL: 0.00 (16) DG: 0.00 (14) DL: 0.00 (4) | ||
| Intron 18 | c.2989-1728T>C | not reported | Asymptomatic:1 Suspicion of CF:2 | 0.127389 | AG: 0.00 (34) AL: 0.00 (8) DG: 0.00 (-45) DL: 0.00 (-2) | ||
| Intron 18 | c.2989-1792_2989-1783del10 | not reported | Asymptomatic:1 | - | - | ||
| Intron 18 | c.2989-1846_2989-1845insG | not reported | Asymptomatic:1 | 0.021518 | AG: 0.00 (46) AL: 0.00 (-30) DG: 0.00 (46) DL: 0.00 (23) | ||
| Intron 18 | c.2989-731T>C | not reported | CFTR-RD:1 | 0.03756 | AG: 0.00 (39) AL: 0.00 (-48) DG: 0.00 (13) DL: 0.00 (-2) | ||
| Intron 18 | c.2989-81delA | not reported | Asymptomatic:1 | - | - | ||
| Intron 18 | c.2989-81dupA | not reported | Asymptomatic:1 CFTR-RD:1 Pending (NBS):1 | 0.020464 | AG: 0.00 (32) AL: 0.00 (43) DG: 0.00 (-46) DL: 0.00 (-6) | ||
| Intron 18 | c.2989-82_2989-81delAA | not reported | Asymptomatic:1 | - | - | ||
| Intron 19 | c.3139+18C>T | 3271+18C/T | non disease-causing | Suspicion of CF:1 | CF:2 CFTR-RD:1 | 0.001251 | AG: 0.00 (-30) AL: 0.00 (-42) DG: 0.00 (-18) DL: 0.00 (-4) |
| Intron 19 | c.3139+42A>T | 3271+42A/T | non disease-causing | Suspicion of CF:1 | CF:2 CFTR-RD:8 Pending:2 | 0.035757 | AG: 0.00 (-28) AL: 0.00 (-32) DG: 0.00 (-28) DL: 0.00 (-3) |
| Intron 19 | c.3140-92T>C | 3272-93T/C | non disease-causing | Asymptomatic:1 Suspicion of CF:2 | CF:6 CFTR-RD:30 Pending:1 | 0.124927 | AG: 0.00 (27) AL: 0.00 (11) DG: 0.00 (20) DL: 0.00 (-13) |
| Intron 19 | c.3139+1G>A | 3271+1G>A | disease-causing | CF:4 | - | - | |
| Intron 19 | c.3140-26A>G | 3272-26A>G | disease-causing | Asymptomatic:2 CF:30 CFTR-RD:17 Pending:8 | - | - | |
| Intron 19 | c.3139+101C>G | 3271+101C/G | VUS | CFTR-RD:1 | - | - | |
| Intron 19 | c.3139+16T>A | VUS | CFTR-RD:1 | - | - | ||
| Intron 19 | c.3139+187dup | VUS | Asymptomatic:1 | - | - | ||
| Intron 19 | c.3139+89T>C | VUS | Pending:1 | - | - | ||
| Intron 19 | c.3140-16T>A | VUS | Pending:1 | - | - | ||
| Intron 19 | c.3140-25T>A | VUS | - | - | |||
| Intron 19 | c.3140-33A>G | 3272-33A/G | VUS | CFTR-RD:1 | - | - | |
| Intron 19 | c.3139+121_3139+135del15 | not reported | Asymptomatic:1 | - | - | ||
| Intron 20 | c.3367+37G>A | 3499+37G/A | non disease-causing | CF:1 CFTR-RD:2 | - | - | |
| Intron 20 | c.3368-140A>C | 3500-140A/C | non disease-causing | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | CF:4 CFTR-RD:4 Pending:2 | 0.190655 | AG: 0.00 (-16) AL: 0.00 (42) DG: 0.00 (37) DL: 0.00 (42) |
| Intron 20 | c.3367+45T>C | 3499+45T/C | VUS | - | - | ||
| Intron 20 | c.3368-2dup | VUS | CF:1 | - | - | ||
| Intron 20 | c.3367+1012G>A | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | 0.190536 | AG: 0.00 (2) AL: 0.00 (-30) DG: 0.00 (-3) DL: 0.00 (-34) | ||
| Intron 20 | c.3367+1115A>G | not reported | Asymptomatic:3 CF:2 CFTR-RD:3 Pending (NBS):1 Suspicion of CF:10 | 0.032095 | AG: 0.00 (9) AL: 0.00 (4) DG: 0.00 (-31) DL: 0.00 (3) | ||
| Intron 20 | c.3367+196C>T | not reported | CFTR-RD:1 | 0.147709 | AG: 0.00 (49) AL: 0.00 (48) DG: 0.00 (-14) DL: 0.00 (18) | ||
| Intron 20 | c.3367+212_3367+259del48 | not reported | CFTR-RD:1 | - | - | ||
| Intron 20 | c.3367+213_3367+214delAT | not reported | Asymptomatic:1 CF:1 CFTR-RD:2 | 0 | AG: 0.00 (49) AL: 0.00 (46) DG: 0.00 (-27) DL: 0.00 (16) | ||
| Intron 20 | c.3367+213_3367+214dupAT | not reported | Asymptomatic:2 CF:1 | 0.088721 | - | ||
| Intron 20 | c.3367+214_3367+259del46 | not reported | Asymptomatic:9 CF:7 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:5 | - | - | ||
| Intron 20 | c.3367+215G>A | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 | 0.023535 | AG: 0.00 (40) AL: 0.00 (46) DG: 0.00 (39) DL: 0.00 (-1) | ||
| Intron 20 | c.3367+215_3367+216delGT | not reported | Asymptomatic:3 CF:2 | 0 | AG: 0.00 (44) AL: 0.00 (48) DG: 0.00 (5) DL: 0.00 (1) | ||
| Intron 20 | c.3367+215_3367+226del12 | not reported | Asymptomatic:1 | - | - | ||
| Intron 20 | c.3367+215_3367+258del44 | not reported | Pending (NBS):1 | - | - | ||
| Intron 20 | c.3367+219A>G | not reported | Asymptomatic:2 CF:2 | 0.023499 | AG: 0.00 (42) AL: 0.00 (34) DG: 0.00 (-5) DL: 0.00 (35) | ||
| Intron 20 | c.3367+228_3367+229insGT | not reported | Suspicion of CF:1 | 0.000321 | - | ||
| Intron 20 | c.3367+229A>G | not reported | 0.0009 | AG: 0.00 (32) AL: 0.00 (15) DG: 0.00 (-1) DL: 0.00 (-31) | |||
| Intron 20 | c.3367+236_3367+245dup10 | not reported | Asymptomatic:1 | 0.024974 | - | ||
| Intron 20 | c.3367+240_3367+245del6 | not reported | Asymptomatic:1 | - | - | ||
| Intron 20 | c.3367+242_3367+245dupTATA | not reported | Asymptomatic:1 | 0.10171 | - | ||
| Intron 20 | c.3367+244_3367+245delTA | not reported | CF:1 CFTR-RD:2 Suspicion of CF:2 | 0 | AG: 0.00 (42) AL: 0.00 (46) DG: 0.00 (-1) DL: 0.00 (46) | ||
| Intron 20 | c.3367+244_3367+245dupTA | not reported | Asymptomatic:1 | 0.200271 | - | ||
| Intron 20 | c.3367+246_3367+255del10 | not reported | Asymptomatic:1 | 0.008076 | - | ||
| Intron 20 | c.3367+320C>G | not reported | Asymptomatic:3 CF:6 CFTR-RD:5 Infertility:1 Pending (NBS):8 Suspicion of CF:4 | 0.040727 | AG: 0.00 (50) AL: 0.02 (-39) DG: 0.00 (-1) DL: 0.00 (43) | ||
| Intron 20 | c.3367+442_3367+453dup12 | not reported | CFTR-RD:1 Pending (NBS):1 | 0.020099 | - | ||
| Intron 20 | c.3367+444_3367+453dup10 | not reported | CFTR-RD:1 | 0.018183 | - | ||
| Intron 20 | c.3367+446_3367+453dup8 | not reported | Asymptomatic:5 CF:4 CFTR-RD:4 Infertility:1 Pending (NBS):7 Suspicion of CF:5 | 0.20485 | - | ||
| Intron 20 | c.3367+448_3367+453dup6 | not reported | Asymptomatic:3 CF:2 CFTR-RD:2 | - | - | ||
| Intron 20 | c.3367+450_3367+453delCACA | not reported | CF:1 Pending (NBS):2 Suspicion of CF:2 | - | - | ||
| Intron 20 | c.3367+452_3367+453delCA | not reported | Asymptomatic:16 CF:3 CFTR-RD:8 Pending (NBS):5 Suspicion of CF:8 | 2.3e-05 | AG: 0.00 (29) AL: 0.00 (-33) DG: 0.07 (42) DL: 0.00 (46) | ||
| Intron 20 | c.3367+452_3367+453dupCA | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 | 0.030002 | - | ||
| Intron 20 | c.3367+453_3367+454insCACACAGA | not reported | Asymptomatic:1 CFTR-RD:1 | - | - | ||
| Intron 20 | c.3367+453_3367+454insCACAGACA | not reported | Suspicion of CF:1 | - | - | ||
| Intron 20 | c.3367+453_3367+454insCCCACACA | not reported | CF:1 | - | - | ||
| Intron 20 | c.3367+602C>A | not reported | CFTR-RD:1 | 0.0007 | AG: 0.00 (39) AL: 0.00 (-20) DG: 0.00 (-4) DL: 0.00 (-2) | ||
| Intron 20 | c.3367+929A>G | not reported | Suspicion of CF:1 | 0.015828 | AG: 0.00 (-44) AL: 0.00 (-20) DG: 0.06 (25) DL: 0.00 (-3) | ||
| Intron 20 | c.3368-1285C>T | not reported | Asymptomatic:1 | - | AG: 0.00 (17) AL: 0.00 (-2) DG: 0.00 (-2) DL: 0.00 (35) | ||
| Intron 20 | c.3368-1304_3368-1294del11 | not reported | Suspicion of CF:1 | - | - | ||
| Intron 20 | c.3368-344T>C | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.049986 | AG: 0.00 (-45) AL: 0.00 (23) DG: 0.00 (47) DL: 0.00 (-15) | ||
| Intron 20 | c.3368-589_3368-588delTG | not reported | Asymptomatic:1 | 3.6e-05 | AG: 0.00 (8) AL: 0.00 (-28) DG: 0.00 (10) DL: 0.00 (8) | ||
| Intron 20 | c.3368-932C>T | not reported | CFTR-RD:1 Pending (NBS):1 | 0.007477 | AG: 0.00 (10) AL: 0.00 (-32) DG: 0.00 (-39) DL: 0.00 (20) | ||
| Intron 21 | c.3469-65C>A | 3601-65C/A | non disease-causing | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:16 | Asymptomatic:2 CF:40 CFTR-RD:65 Pending:9 | 0.185621 | AG: 0.00 (-15) AL: 0.00 (42) DG: 0.00 (-33) DL: 0.00 (-31) |
| Intron 21 | c.3468+2T>C | 3600+2T>C | disease-causing | CFTR-RD:1 | - | - | |
| Intron 21 | c.3469-1304C>G | disease-causing | CF:1 | CF:2 | - | AG: 0.00 (-1) AL: 0.00 (12) DG: 0.98 (-1) DL: 0.02 (-11) | |
| Intron 21 | c.(3468+1_3469-1)_(3717+1_3718-1)del | VUS | CF:1 | - | - | ||
| Intron 21 | c.3468+51C>A | VUS | CFTR-RD:1 | - | - | ||
| Intron 21 | c.3468+5G>A | 3600+5G>A | VUS | CF:2 | - | - | |
| Intron 21 | c.3468+70T>C | VUS | CFTR-RD:1 | - | - | ||
| Intron 21 | c.3469-1374A>C | VUS | Asymptomatic:2 | - | - | ||
| Intron 21 | c.3469-1473A>G | VUS | CF:1 | - | - | ||
| Intron 21 | c.3469-17T>C | 3601-17T>C | VUS | Asymptomatic:1 CF:1 CFTR-RD:3 | - | - | |
| Intron 21 | c.3469-20T>C | 3601-20T>C | VUS | CF:1 Pending:1 | - | - | |
| Intron 21 | c.3468+1239_3468+1248del10 | not reported | Suspicion of CF:1 | - | - | ||
| Intron 21 | c.3468+1241C>G | not reported | Suspicion of CF:1 | 0.015837 | AG: 0.00 (49) AL: 0.00 (14) DG: 0.00 (-35) DL: 0.00 (-6) | ||
| Intron 21 | c.3468+1385_3468+1393del9 | not reported | CFTR-RD:1 | - | - | ||
| Intron 21 | c.3468+146_3468+158del13 | not reported | Suspicion of CF:1 | - | - | ||
| Intron 21 | c.3468+1526_3468+1527insC | not reported | Pending (NBS):1 | 0.00476 | AG: 0.00 (9) AL: 0.00 (-23) DG: 0.00 (-25) DL: 0.00 (-35) | ||
| Intron 21 | c.3468+1532dupT | not reported | Asymptomatic:29 CF:18 CFTR-RD:23 Infertility:2 Pending (NBS):17 Suspicion of CF:19 | 0.99235 | AG: 0.00 (22) AL: 0.00 (13) DG: 0.00 (-21) DL: 0.00 (-31) | ||
| Intron 21 | c.3468+1581T>C | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.050022 | AG: 0.00 (-46) AL: 0.00 (5) DG: 0.00 (3) DL: 0.00 (32) | ||
| Intron 21 | c.3468+1607C>T | not reported | Asymptomatic:7 CF:4 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:6 | 0.147548 | AG: 0.00 (-23) AL: 0.00 (-21) DG: 0.00 (-23) DL: 0.00 (16) | ||
| Intron 21 | c.3468+1795C>T | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.07388 | AG: 0.00 (34) AL: 0.00 (-2) DG: 0.00 (-21) DL: 0.00 (-38) | ||
| Intron 21 | c.3468+1945G>A | not reported | Asymptomatic:7 CF:4 CFTR-RD:4 Pending (NBS):2 Suspicion of CF:12 | 0.104205 | AG: 0.00 (2) AL: 0.00 (-19) DG: 0.00 (-38) DL: 0.00 (-47) | ||
| Intron 21 | c.3468+1991T>C | not reported | CFTR-RD:1 | 0.037672 | AG: 0.00 (6) AL: 0.00 (18) DG: 0.00 (27) DL: 0.00 (22) | ||
| Intron 21 | c.3468+2109T>C | not reported | Suspicion of CF:1 | 0.023177 | AG: 0.00 (0) AL: 0.00 (25) DG: 0.00 (0) DL: 0.00 (-2) | ||
| Intron 21 | c.3468+2289C>G | not reported | CFTR-RD:1 | 2.1e-05 | AG: 0.00 (10) AL: 0.00 (34) DG: 0.00 (20) DL: 0.00 (-27) | ||
| Intron 21 | c.3468+2651A>G | not reported | CFTR-RD:1 Pending (NBS):1 | 0.001358 | AG: 0.00 (-48) AL: 0.00 (-42) DG: 0.00 (-10) DL: 0.00 (-44) | ||
| Intron 21 | c.3468+2834C>T | not reported | CFTR-RD:1 | 0.037273 | AG: 0.00 (-2) AL: 0.00 (-18) DG: 0.00 (5) DL: 0.00 (11) | ||
| Intron 21 | c.3468+2906A>G | not reported | Asymptomatic:3 CF:1 CFTR-RD:4 Infertility:1 Pending (NBS):6 Suspicion of CF:3 | 0.020255 | AG: 0.00 (1) AL: 0.00 (23) DG: 0.00 (24) DL: 0.00 (23) | ||
| Intron 21 | c.3468+2920C>T | not reported | Asymptomatic:7 CF:5 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.103934 | AG: 0.00 (9) AL: 0.00 (-19) DG: 0.00 (-7) DL: 0.00 (10) | ||
| Intron 21 | c.3468+3104C>T | not reported | CFTR-RD:1 Infertility:1 Pending (NBS):3 Suspicion of CF:1 | 0.009455 | AG: 0.00 (17) AL: 0.00 (0) DG: 0.00 (-2) DL: 0.00 (0) | ||
| Intron 21 | c.3468+3108_3468+3119del12 | not reported | CFTR-RD:1 | - | - | ||
| Intron 21 | c.3468+3399C>T | not reported | Suspicion of CF:1 | 1.4e-05 | AG: 0.00 (36) AL: 0.00 (-13) DG: 0.00 (4) DL: 0.00 (35) | ||
| Intron 21 | c.3468+3454A>G | not reported | CFTR-RD:1 | 0.000371 | AG: 0.00 (-19) AL: 0.00 (39) DG: 0.00 (31) DL: 0.00 (-20) | ||
| Intron 21 | c.3468+3499A>G | not reported | Asymptomatic:3 CFTR-RD:2 | 0.031565 | AG: 0.00 (1) AL: 0.03 (13) DG: 0.00 (1) DL: 0.00 (13) | ||
| Intron 21 | c.3468+3542G>A | not reported | Suspicion of CF:1 | 0.011438 | AG: 0.00 (3) AL: 0.01 (-30) DG: 0.00 (2) DL: 0.00 (20) | ||
| Intron 21 | c.3468+3605A>G | not reported | Asymptomatic:17 CF:12 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:24 | 0.434056 | AG: 0.00 (50) AL: 0.00 (19) DG: 0.00 (-43) DL: 0.00 (-11) | ||
| Intron 21 | c.3468+3762G>A | not reported | Asymptomatic:15 CF:12 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:25 | 0.490442 | AG: 0.00 (37) AL: 0.00 (7) DG: 0.00 (20) DL: 0.00 (18) | ||
| Intron 21 | c.3468+3790_3468+3793dupCACA | not reported | CF:1 | 0.005252 | - | ||
| Intron 21 | c.3468+3792_3468+3793delCA | not reported | Asymptomatic:8 CF:9 CFTR-RD:2 Pending (NBS):3 Suspicion of CF:5 | 9.3e-05 | AG: 0.00 (26) AL: 0.00 (4) DG: 0.00 (17) DL: 0.00 (15) | ||
| Intron 21 | c.3468+3792_3468+3793dupCA | not reported | Asymptomatic:6 CF:2 CFTR-RD:10 Infertility:1 Pending (NBS):8 Suspicion of CF:7 | 0.234333 | - | ||
| Intron 21 | c.3468+3924T>C | not reported | Suspicion of CF:1 | 0.00806 | AG: 0.00 (-12) AL: 0.00 (10) DG: 0.00 (27) DL: 0.00 (-24) | ||
| Intron 21 | c.3468+4244G>A | not reported | Asymptomatic:18 CF:12 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | 0.47854 | AG: 0.00 (-41) AL: 0.00 (1) DG: 0.00 (3) DL: 0.00 (13) | ||
| Intron 21 | c.3468+4430T>C | not reported | Asymptomatic:3 CF:1 CFTR-RD:1 Suspicion of CF:2 | 0.030812 | AG: 0.00 (25) AL: 0.00 (27) DG: 0.00 (25) DL: 0.00 (-36) | ||
| Intron 21 | c.3468+4571_3468+4586del16 | not reported | CFTR-RD:1 | - | - | ||
| Intron 21 | c.3468+4747_3468+4750delGTCT | not reported | CFTR-RD:1 | - | - | ||
| Intron 21 | c.3468+503G>A | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.050062 | AG: 0.00 (36) AL: 0.00 (47) DG: 0.00 (-4) DL: 0.00 (42) | ||
| Intron 21 | c.3468+512T>C | not reported | Pending (NBS):1 | 0.000929 | AG: 0.00 (12) AL: 0.00 (38) DG: 0.00 (2) DL: 0.00 (38) | ||
| Intron 21 | c.3468+5179C>T | not reported | Asymptomatic:12 CF:8 CFTR-RD:10 Infertility:1 Pending (NBS):10 Suspicion of CF:19 | 0.317395 | AG: 0.00 (31) AL: 0.00 (26) DG: 0.00 (-1) DL: 0.00 (24) | ||
| Intron 21 | c.3468+5371_3468+5372delTT | not reported | CF:1 CFTR-RD:1 | - | - | ||
| Intron 21 | c.3468+5372delT | not reported | Asymptomatic:5 CF:4 CFTR-RD:2 Suspicion of CF:3 | 2.8e-05 | AG: 0.00 (-40) AL: 0.00 (-43) DG: 0.00 (12) DL: 0.00 (-33) | ||
| Intron 21 | c.3468+5536A>G | not reported | Suspicion of CF:1 | 0.015893 | AG: 0.00 (-13) AL: 0.00 (-28) DG: 0.00 (49) DL: 0.00 (-19) | ||
| Intron 21 | c.3468+5763C>T | not reported | Asymptomatic:2 CFTR-RD:1 Pending (NBS):1 | 0.034625 | AG: 0.00 (-21) AL: 0.00 (36) DG: 0.00 (8) DL: 0.00 (0) | ||
| Intron 21 | c.3468+5779C>A | not reported | Suspicion of CF:1 | 0.034844 | AG: 0.00 (35) AL: 0.00 (-37) DG: 0.00 (-3) DL: 0.00 (29) | ||
| Intron 21 | c.3468+6057G>T | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.04996 | AG: 0.00 (-40) AL: 0.00 (1) DG: 0.00 (-40) DL: 0.00 (-10) | ||
| Intron 21 | c.3468+6121C>T | not reported | Suspicion of CF:1 | 0.002486 | AG: 0.00 (25) AL: 0.00 (-12) DG: 0.00 (45) DL: 0.00 (-4) | ||
| Intron 21 | c.3468+6147A>C | not reported | Suspicion of CF:1 | 0.000223 | AG: 0.00 (-1) AL: 0.00 (-38) DG: 0.00 (-30) DL: 0.00 (19) | ||
| Intron 21 | c.3468+6321G>A | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.049887 | AG: 0.00 (2) AL: 0.00 (-45) DG: 0.00 (3) DL: 0.00 (43) | ||
| Intron 21 | c.3468+6322G>A | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.049854 | AG: 0.00 (-46) AL: 0.00 (-35) DG: 0.00 (50) DL: 0.00 (49) | ||
| Intron 21 | c.3468+6350C>G | not reported | CF:1 | 0.000586 | AG: 0.00 (22) AL: 0.00 (11) DG: 0.00 (22) DL: 0.00 (24) | ||
| Intron 21 | c.3468+6383A>G | not reported | Suspicion of CF:1 | 0.015819 | AG: 0.00 (39) AL: 0.00 (-11) DG: 0.00 (-19) DL: 0.00 (-11) | ||
| Intron 21 | c.3468+6387C>G | not reported | Asymptomatic:1 CF:1 | 0.000203 | AG: 0.00 (-15) AL: 0.00 (20) DG: 0.00 (-15) DL: 0.00 (2) | ||
| Intron 21 | c.3468+6401_3469-6404del5 | not reported | Pending (NBS):1 | - | - | ||
| Intron 21 | c.3468+85T>C | not reported | Suspicion of CF:1 | 1.4e-05 | AG: 0.00 (-42) AL: 0.00 (36) DG: 0.00 (46) DL: 0.00 (-31) | ||
| Intron 21 | c.3468+913G>A | not reported | Asymptomatic:3 CFTR-RD:2 | 0.026339 | AG: 0.00 (32) AL: 0.00 (1) DG: 0.00 (32) DL: 0.00 (-1) | ||
| Intron 21 | c.3469-1081G>A | not reported | Suspicion of CF:1 | 0.015812 | AG: 0.00 (37) AL: 0.00 (6) DG: 0.00 (-26) DL: 0.00 (-1) | ||
| Intron 21 | c.3469-1606C>T | not reported | Asymptomatic:1 | 0.005587 | AG: 0.00 (48) AL: 0.00 (-36) DG: 0.00 (-12) DL: 0.00 (12) | ||
| Intron 21 | c.3469-1993T>C | not reported | CFTR-RD:1 | 2.1e-05 | AG: 0.00 (7) AL: 0.00 (34) DG: 0.00 (27) DL: 0.00 (-38) | ||
| Intron 21 | c.3469-2321T>C | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.074809 | AG: 0.00 (35) AL: 0.00 (-4) DG: 0.00 (17) DL: 0.00 (-47) | ||
| Intron 21 | c.3469-2664C>T | not reported | Suspicion of CF:1 | 0.004454 | AG: 0.00 (41) AL: 0.00 (15) DG: 0.00 (-1) DL: 0.00 (13) | ||
| Intron 21 | c.3469-3197G>A | not reported | Suspicion of CF:1 | 0.045757 | AG: 0.00 (-27) AL: 0.00 (46) DG: 0.00 (40) DL: 0.00 (-50) | ||
| Intron 21 | c.3469-337G>A | not reported | Suspicion of CF:1 | 0.034933 | AG: 0.00 (2) AL: 0.00 (10) DG: 0.00 (36) DL: 0.00 (-28) | ||
| Intron 21 | c.3469-3450T>C | not reported | Asymptomatic:7 CF:5 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:6 | 0.147765 | AG: 0.00 (-43) AL: 0.00 (-11) DG: 0.00 (24) DL: 0.00 (-11) | ||
| Intron 21 | c.3469-3902C>T | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.073896 | AG: 0.00 (24) AL: 0.00 (3) DG: 0.00 (30) DL: 0.00 (3) | ||
| Intron 21 | c.3469-4002C>G | not reported | CFTR-RD:1 | - | AG: 0.00 (-36) AL: 0.00 (-30) DG: 0.00 (-1) DL: 0.00 (-23) | ||
| Intron 21 | c.3469-4027C>G | not reported | CF:1 | 7.7e-05 | AG: 0.00 (-5) AL: 0.00 (2) DG: 0.00 (-33) DL: 0.00 (2) | ||
| Intron 21 | c.3469-4159G>C | not reported | Asymptomatic:31 CF:20 CFTR-RD:23 Infertility:2 Pending (NBS):17 Suspicion of CF:43 | 0.994126 | AG: 0.00 (15) AL: 0.00 (-33) DG: 0.00 (-28) DL: 0.00 (38) | ||
| Intron 21 | c.3469-4588C>G | not reported | Pending (NBS):1 | - | AG: 0.00 (27) AL: 0.00 (17) DG: 0.00 (27) DL: 0.00 (0) | ||
| Intron 21 | c.3469-4936_3469-4926del11 | not reported | Asymptomatic:1 | - | - | ||
| Intron 21 | c.3469-5141T>C | not reported | Asymptomatic:1 | 0.011379 | AG: 0.00 (-3) AL: 0.00 (45) DG: 0.00 (-4) DL: 0.00 (6) | ||
| Intron 21 | c.3469-5272G>A | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:16 | 0.189319 | AG: 0.00 (-14) AL: 0.00 (-17) DG: 0.00 (-3) DL: 0.00 (-14) | ||
| Intron 21 | c.3469-5493C>T | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.050025 | AG: 0.00 (-26) AL: 0.00 (1) DG: 0.00 (44) DL: 0.00 (-7) | ||
| Intron 21 | c.3469-5564C>T | not reported | Suspicion of CF:1 | 0.000363 | AG: 0.00 (45) AL: 0.00 (-31) DG: 0.00 (34) DL: 0.00 (0) | ||
| Intron 21 | c.3469-5913G>A | not reported | Asymptomatic:2 CF:1 | 0.005786 | AG: 0.00 (-16) AL: 0.00 (12) DG: 0.00 (12) DL: 0.00 (-1) | ||
| Intron 21 | c.3469-6052C>T | not reported | Asymptomatic:1 | - | AG: 0.00 (41) AL: 0.00 (-45) DG: 0.00 (41) DL: 0.00 (-6) | ||
| Intron 21 | c.3469-6154A>G | not reported | CFTR-RD:1 | 0.037539 | AG: 0.00 (41) AL: 0.00 (2) DG: 0.00 (12) DL: 0.00 (-13) | ||
| Intron 21 | c.3469-6205C>A | not reported | Suspicion of CF:1 | 0.015758 | AG: 0.00 (-23) AL: 0.00 (40) DG: 0.00 (-12) DL: 0.00 (30) | ||
| Intron 21 | c.3469-6283C>T | not reported | Asymptomatic:18 CF:12 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:25 | 0.478321 | AG: 0.00 (15) AL: 0.00 (-18) DG: 0.00 (-2) DL: 0.00 (-11) | ||
| Intron 21 | c.3469-904C>T | not reported | CF:1 | 0.00239 | AG: 0.00 (43) AL: 0.00 (-20) DG: 0.00 (-39) DL: 0.00 (-20) | ||
| Intron 21 | c.3469-906T>C | not reported | CF:1 | - | AG: 0.00 (45) AL: 0.00 (-18) DG: 0.00 (-24) DL: 0.00 (-18) | ||
| Intron 22 | c.3717+1G>A | 3849+ 1G- >A | disease-causing | CF:1 | - | - | |
| Intron 22 | c.3717+40A>G | 3849+40A>G | disease-causing | CF:2 CFTR-RD:5 Pending:4 | - | - | |
| Intron 22 | c.3717+4A>G | 3849+4A>G | disease-causing | CF:1 | - | - | |
| Intron 22 | c.3718-1G>A | 3850-1G>A | disease-causing | CF:3 Fetal bowel anomalies:1 | - | - | |
| Intron 22 | c.3718-2477C>T | 3849+10kbC>T | disease-causing | Suspicion of CF:1 | Asymptomatic:4 CF:42 CFTR-RD:16 Pending:7 | 0.000133 | AG: 0.00 (-11) AL: 0.00 (36) DG: 0.16 (-2) DL: 0.00 (36) |
| Intron 22 | c.3717+45G>A | 3849+45G>A | VUS | Asymptomatic:1 CFTR-RD:4 Fetal bowel anomalies:1 | - | - | |
| Intron 22 | c.3717+53del | VUS | CFTR-RD:1 | - | - | ||
| Intron 22 | c.3717+68A>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 22 | c.3718-2487A>T | VUS | CFTR-RD:1 | - | - | ||
| Intron 22 | c.3718-24G>A | VUS | CFTR-RD:1 | Asymptomatic:2 CF:1 CFTR-RD:2 | 0.000216 | AG: 0.01 (24) AL: 0.00 (-4) DG: 0.00 (-3) DL: 0.00 (23) | |
| Intron 22 | c.3718-48A>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 22 | c.3718-79T>C | 3850-79T/C | VUS | CFTR-RD:3 | - | - | |
| Intron 22 | c.3717+1969A>C | not reported | Asymptomatic:2 CF:2 Suspicion of CF:1 | 0.003245 | AG: 0.00 (-31) AL: 0.00 (2) DG: 0.00 (-28) DL: 0.00 (2) | ||
| Intron 22 | c.3717+1971T>A | not reported | CFTR-RD:1 | 0.03757 | AG: 0.00 (-33) AL: 0.00 (-15) DG: 0.00 (-1) DL: 0.00 (-30) | ||
| Intron 22 | c.3717+2085C>A | not reported | CFTR-RD:1 | 0.037578 | AG: 0.00 (26) AL: 0.00 (1) DG: 0.00 (-29) DL: 0.00 (-31) | ||
| Intron 22 | c.3717+2357C>A | not reported | CFTR-RD:1 | 0.037692 | AG: 0.00 (-1) AL: 0.00 (27) DG: 0.00 (32) DL: 0.00 (-49) | ||
| Intron 22 | c.3717+2396A>G | not reported | Suspicion of CF:1 | 0.001829 | AG: 0.00 (-40) AL: 0.00 (41) DG: 0.00 (-12) DL: 0.00 (-7) | ||
| Intron 22 | c.3717+2748A>G | not reported | CFTR-RD:1 | 0.037583 | AG: 0.00 (-26) AL: 0.00 (26) DG: 0.00 (-7) DL: 0.00 (-3) | ||
| Intron 22 | c.3717+3018C>A | not reported | CFTR-RD:1 | 0.03704 | AG: 0.00 (2) AL: 0.00 (41) DG: 0.00 (-4) DL: 0.00 (36) | ||
| Intron 22 | c.3717+3030G>A | not reported | Asymptomatic:1 | 0.00014 | AG: 0.00 (29) AL: 0.00 (-20) DG: 0.00 (2) DL: 0.00 (-34) | ||
| Intron 22 | c.3717+3358G>A | not reported | Asymptomatic:1 CFTR-RD:1 | 0.001969 | AG: 0.00 (29) AL: 0.00 (-26) DG: 0.00 (-13) DL: 0.00 (-6) | ||
| Intron 22 | c.3717+372A>G | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.002255 | AG: 0.00 (22) AL: 0.00 (3) DG: 0.00 (20) DL: 0.00 (1) | ||
| Intron 22 | c.3717+4214C>T | not reported | Suspicion of CF:3 | 0.001467 | AG: 0.00 (40) AL: 0.00 (45) DG: 0.00 (-22) DL: 0.00 (13) | ||
| Intron 22 | c.3717+4385G>C | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:1 | 0.016105 | AG: 0.00 (-44) AL: 0.00 (-30) DG: 0.00 (30) DL: 0.00 (-30) | ||
| Intron 22 | c.3717+4799dupA | not reported | Asymptomatic:1 CFTR-RD:1 Suspicion of CF:1 | 0.023251 | AG: 0.00 (-15) AL: 0.00 (14) DG: 0.00 (-15) DL: 0.00 (-21) | ||
| Intron 22 | c.3717+4816_3717+4822del7 | not reported | Asymptomatic:3 CF:1 CFTR-RD:3 Pending (NBS):1 Suspicion of CF:4 | 0.040088 | - | ||
| Intron 22 | c.3717+4941G>T | not reported | CF:1 CFTR-RD:1 | 0.004921 | AG: 0.00 (11) AL: 0.00 (47) DG: 0.00 (-8) DL: 0.00 (-21) | ||
| Intron 22 | c.3717+5497G>A | not reported | Suspicion of CF:1 | 0.014843 | AG: 0.00 (8) AL: 0.00 (-19) DG: 0.00 (5) DL: 0.00 (12) | ||
| 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.3717+5579G>A | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.075204 | AG: 0.00 (0) AL: 0.00 (-20) DG: 0.00 (8) DL: 0.00 (-1) | ||
| Intron 22 | c.3717+5885dupT | not reported | Infertility:1 Pending (NBS):1 Suspicion of CF:1 | 0.000844 | AG: 0.00 (-2) AL: 0.00 (42) DG: 0.00 (-32) DL: 0.00 (-30) | ||
| Intron 22 | c.3717+6086G>T | not reported | Asymptomatic:1 | - | AG: 0.00 (5) AL: 0.00 (-1) DG: 0.00 (5) DL: 0.00 (-1) | ||
| Intron 22 | c.3717+6146T>G | not reported | Suspicion of CF:1 | 0.014874 | AG: 0.00 (30) AL: 0.00 (-2) DG: 0.00 (30) DL: 0.00 (-33) | ||
| Intron 22 | c.3717+6174T>G | not reported | CFTR-RD:2 | 0.0003 | AG: 0.00 (1) AL: 0.00 (47) DG: 0.00 (-1) DL: 0.00 (46) | ||
| Intron 22 | c.3717+6418A>G | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.000182 | AG: 0.00 (-45) AL: 0.00 (17) DG: 0.00 (-46) DL: 0.00 (-33) | ||
| Intron 22 | c.3717+6432G>A | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:16 | 0.161646 | AG: 0.00 (3) AL: 0.00 (46) DG: 0.00 (-3) DL: 0.00 (45) | ||
| Intron 22 | c.3717+657A>G | not reported | Suspicion of CF:1 | 0.004698 | AG: 0.00 (-46) AL: 0.00 (-25) DG: 0.00 (48) DL: 0.00 (-42) | ||
| Intron 22 | c.3717+683C>T | not reported | Suspicion of CF:1 | 4.2e-05 | AG: 0.00 (22) AL: 0.00 (-13) DG: 0.00 (-36) DL: 0.00 (22) | ||
| Intron 22 | c.3717+7003T>C | not reported | CFTR-RD:1 Pending (NBS):2 Suspicion of CF:1 | 0.007748 | AG: 0.00 (-11) AL: 0.00 (14) DG: 0.00 (-49) DL: 0.00 (14) | ||
| Intron 22 | c.3717+766G>T | not reported | CFTR-RD:1 | 0.033008 | AG: 0.00 (50) AL: 0.00 (-30) DG: 0.00 (41) DL: 0.00 (32) | ||
| Intron 22 | c.3718-1178T>C | not reported | CFTR-RD:1 | 0.037565 | AG: 0.00 (-8) AL: 0.00 (11) DG: 0.00 (-8) DL: 0.00 (41) | ||
| Intron 22 | c.3718-1260G>A | not reported | CFTR-RD:1 | 0.037576 | AG: 0.00 (9) AL: 0.00 (-39) DG: 0.00 (-19) DL: 0.00 (25) | ||
| Intron 22 | c.3718-1296_3718-1288del9 | not reported | CF:1 | - | - | ||
| Intron 22 | c.3718-1529C>T | not reported | CF:3 | 0.0006 | AG: 0.00 (5) AL: 0.00 (1) DG: 0.00 (-29) DL: 0.00 (5) | ||
| Intron 22 | c.3718-1561C>G | not reported | Suspicion of CF:1 | 0.014902 | AG: 0.00 (-1) AL: 0.00 (5) DG: 0.00 (37) DL: 0.00 (46) | ||
| Intron 22 | c.3718-1562C>T | not reported | CFTR-RD:1 | 8.4e-05 | AG: 0.00 (38) AL: 0.00 (48) DG: 0.00 (38) DL: 0.00 (47) | ||
| Intron 22 | c.3718-1676G>C | not reported | Suspicion of CF:1 | 0.036061 | AG: 0.00 (3) AL: 0.00 (0) DG: 0.00 (-34) DL: 0.00 (-8) | ||
| Intron 22 | c.3718-1899C>G | not reported | CFTR-RD:1 | 0.037524 | AG: 0.00 (1) AL: 0.00 (26) DG: 0.00 (4) DL: 0.00 (-33) | ||
| Intron 22 | c.3718-1927C>T | not reported | Suspicion of CF:1 | 0.009724 | AG: 0.00 (11) AL: 0.00 (-18) DG: 0.00 (-2) DL: 0.00 (41) | ||
| Intron 22 | c.3718-2960_3718-2959delTG | not reported | Asymptomatic:2 CFTR-RD:1 | 0.008149 | AG: 0.00 (-16) AL: 0.00 (-22) DG: 0.00 (26) DL: 0.00 (23) | ||
| Intron 22 | c.3718-3345G>A | not reported | Suspicion of CF:1 | 0.033891 | AG: 0.00 (-3) AL: 0.00 (-4) DG: 0.00 (-3) DL: 0.00 (43) | ||
| Intron 22 | c.3718-3392G>A | not reported | CFTR-RD:1 | 2.1e-05 | AG: 0.00 (43) AL: 0.00 (1) DG: 0.00 (24) DL: 0.00 (44) | ||
| Intron 22 | c.3718-3437G>C | not reported | Suspicion of CF:1 | 0.00093 | AG: 0.00 (-24) AL: 0.00 (35) DG: 0.00 (33) DL: 0.00 (-1) | ||
| Intron 22 | c.3718-3514_3718-3497del18 | not reported | Asymptomatic:1 | - | - | ||
| Intron 22 | c.3718-3630G>T | not reported | Suspicion of CF:3 | 0.001449 | AG: 0.00 (3) AL: 0.00 (-3) DG: 0.00 (3) DL: 0.00 (1) | ||
| Intron 22 | c.3718-3673_3718-3670delATAA | not reported | Suspicion of CF:2 | 2.9e-05 | AG: 0.00 (36) AL: 0.00 (9) DG: 0.00 (16) DL: 0.00 (-24) | ||
| Intron 22 | c.3718-3673_3718-3670dupATAA | not reported | Asymptomatic:10 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:9 | 0.18717 | - | ||
| Intron 22 | c.3718-3677_3718-3670dup8 | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.015764 | - | ||
| Intron 22 | c.3718-3681_3718-3670dup12 | not reported | Asymptomatic:1 CFTR-RD:1 | 0.046562 | - | ||
| Intron 22 | c.3718-3927G>A | not reported | Suspicion of CF:1 | 0.033826 | AG: 0.00 (2) AL: 0.00 (-23) DG: 0.00 (-34) DL: 0.00 (43) | ||
| Intron 22 | c.3718-4189G>C | not reported | Asymptomatic:1 CFTR-RD:1 | 0.002018 | AG: 0.00 (32) AL: 0.01 (1) DG: 0.00 (-21) DL: 0.00 (1) | ||
| Intron 22 | c.3718-4521T>G | not reported | Suspicion of CF:1 | 2.8e-05 | AG: 0.00 (38) AL: 0.00 (33) DG: 0.00 (38) DL: 0.00 (36) | ||
| Intron 22 | c.3718-4552dupA | not reported | Asymptomatic:1 | - | AG: 0.00 (12) AL: 0.00 (-32) DG: 0.00 (-23) DL: 0.00 (35) | ||
| Intron 22 | c.3718-4566G>A | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:16 | 0.163089 | AG: 0.00 (26) AL: 0.00 (-28) DG: 0.00 (-11) DL: 0.00 (39) | ||
| Intron 22 | c.3718-4732G>A | not reported | Suspicion of CF:1 | 0 | AG: 0.00 (-3) AL: 0.00 (26) DG: 0.00 (-11) DL: 0.00 (29) | ||
| Intron 22 | c.3718-4740G>A | not reported | Suspicion of CF:1 | 0 | AG: 0.00 (34) AL: 0.00 (-48) DG: 0.00 (-3) DL: 0.00 (37) | ||
| Intron 22 | c.3718-4742G>A | not reported | Suspicion of CF:1 | 0 | AG: 0.00 (36) AL: 0.00 (-1) DG: 0.00 (39) DL: 0.00 (-1) | ||
| Intron 22 | c.3718-4757A>C | not reported | Suspicion of CF:1 | - | AG: 0.00 (-35) AL: 0.00 (-41) DG: 0.00 (14) DL: 0.00 (11) | ||
| Intron 22 | c.3718-4763G>A | not reported | CF:1 Suspicion of CF:1 | 1.4e-05 | AG: 0.00 (-29) AL: 0.00 (-25) DG: 0.00 (-12) DL: 0.00 (20) | ||
| Intron 22 | c.3718-4807C>A | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 Suspicion of CF:1 | - | AG: 0.00 (-46) AL: 0.00 (15) DG: 0.00 (-31) DL: 0.00 (32) | ||
| Intron 22 | c.3718-4811C>A | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 Suspicion of CF:1 | 9.8e-05 | AG: 0.00 (-42) AL: 0.00 (19) DG: 0.00 (-27) DL: 0.00 (18) | ||
| Intron 22 | c.3718-4819G>A | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 Suspicion of CF:1 | - | AG: 0.00 (21) AL: 0.00 (-18) DG: 0.00 (-19) DL: 0.00 (44) | ||
| Intron 22 | c.3718-4833G>A | not reported | Infertility:1 | 0.000419 | AG: 0.00 (-43) AL: 0.00 (-38) DG: 0.00 (40) DL: 0.00 (-5) | ||
| Intron 22 | c.3718-4869A>G | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.073471 | AG: 0.00 (-2) AL: 0.00 (-7) DG: 0.00 (31) DL: 0.00 (-7) | ||
| Intron 22 | c.3718-4938A>T | not reported | Asymptomatic:11 CF:11 CFTR-RD:8 Pending (NBS):13 Suspicion of CF:11 | 0.012464 | AG: 0.00 (7) AL: 0.00 (2) DG: 0.00 (-22) DL: 0.00 (1) | ||
| Intron 22 | c.3718-5203dupT | not reported | Asymptomatic:14 CF:7 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:10 | 0.398895 | AG: 0.00 (23) AL: 0.00 (49) DG: 0.00 (-3) DL: 0.00 (-6) | ||
| Intron 22 | c.3718-5204_3718-5203dupTT | not reported | Asymptomatic:1 | 0.085426 | - | ||
| Intron 22 | c.3718-5334A>T | not reported | Suspicion of CF:1 | 0.00014 | AG: 0.00 (-10) AL: 0.00 (-33) DG: 0.00 (-10) DL: 0.00 (-33) | ||
| Intron 22 | c.3718-5346T>C | not reported | Asymptomatic:1 | - | AG: 0.00 (2) AL: 0.00 (44) DG: 0.00 (2) DL: 0.00 (-40) | ||
| Intron 22 | c.3718-5371_3718-5370insGCCT | not reported | - | - | |||
| Intron 22 | c.3718-5374A>G | not reported | Asymptomatic:3 CF:2 Suspicion of CF:1 | - | AG: 0.00 (-36) AL: 0.00 (7) DG: 0.00 (30) DL: 0.00 (-37) | ||
| Intron 22 | c.3718-5375C>T | not reported | Asymptomatic:3 CF:2 Suspicion of CF:1 | - | AG: 0.00 (-35) AL: 0.00 (8) DG: 0.00 (31) DL: 0.00 (8) | ||
| Intron 22 | c.3718-5378G>A | not reported | Asymptomatic:2 Suspicion of CF:1 | - | AG: 0.00 (11) AL: 0.00 (-48) DG: 0.00 (34) DL: 0.00 (-42) | ||
| Intron 22 | c.3718-5379T>C | not reported | Asymptomatic:3 CF:2 Suspicion of CF:1 | - | AG: 0.00 (-31) AL: 0.00 (12) DG: 0.00 (35) DL: 0.00 (-7) | ||
| Intron 22 | c.3718-5379_3718-5376delTGCC | not reported | - | - | |||
| Intron 22 | c.3718-5386A>G | not reported | Asymptomatic:1 CF:1 Suspicion of CF:1 | - | AG: 0.00 (19) AL: 0.00 (-50) DG: 0.00 (0) DL: 0.00 (42) | ||
| Intron 22 | c.3718-5393A>G | not reported | CF:1 CFTR-RD:1 | - | AG: 0.00 (-43) AL: 0.00 (26) DG: 0.00 (49) DL: 0.00 (-18) | ||
| Intron 22 | c.3718-5402T>C | not reported | Asymptomatic:3 | - | AG: 0.00 (-34) AL: 0.00 (35) DG: 0.00 (-37) DL: 0.00 (-9) | ||
| Intron 22 | c.3718-5408G>T | not reported | Asymptomatic:2 CF:1 | - | AG: 0.00 (11) AL: 0.00 (-28) DG: 0.00 (1) DL: 0.00 (-3) | ||
| Intron 22 | c.3718-5423T>C | not reported | Asymptomatic:3 CF:1 CFTR-RD:1 | 0 | AG: 0.00 (-13) AL: 0.00 (5) DG: 0.00 (12) DL: 0.00 (-36) | ||
| Intron 22 | c.3718-5551G>A | not reported | Suspicion of CF:1 | - | AG: 0.00 (-46) AL: 0.00 (-45) DG: 0.00 (-46) DL: 0.00 (31) | ||
| Intron 22 | c.3718-5552T>C | not reported | Suspicion of CF:1 | - | AG: 0.00 (-45) AL: 0.00 (10) DG: 0.00 (32) DL: 0.00 (-45) | ||
| Intron 22 | c.3718-5558T>C | not reported | Suspicion of CF:1 | - | AG: 0.00 (-5) AL: 0.00 (-39) DG: 0.00 (-4) DL: 0.00 (-39) | ||
| Intron 22 | c.3718-5607dupT | not reported | Asymptomatic:2 CFTR-RD:1 | 0.007389 | AG: 0.00 (23) AL: 0.00 (0) DG: 0.00 (23) DL: 0.00 (-31) | ||
| Intron 22 | c.3718-5884G>T | not reported | Suspicion of CF:1 | 0.010269 | AG: 0.00 (28) AL: 0.00 (-16) DG: 0.00 (-30) DL: 0.00 (-43) | ||
| Intron 22 | c.3718-6324T>C | not reported | CFTR-RD:1 | 0.037548 | AG: 0.00 (-23) AL: 0.00 (-35) DG: 0.00 (36) DL: 0.00 (-37) | ||
| Intron 22 | c.3718-6371_3718-6363del9 | not reported | Asymptomatic:1 | - | - | ||
| Intron 22 | c.3718-6421T>C | not reported | CFTR-RD:1 | 0.037524 | AG: 0.02 (4) AL: 0.00 (-39) DG: 0.00 (-23) DL: 0.00 (-39) | ||
| Intron 22 | c.3718-6443G>A | not reported | Suspicion of CF:1 | 0.010232 | AG: 0.00 (26) AL: 0.00 (-17) DG: 0.00 (49) DL: 0.00 (-1) | ||
| Intron 22 | c.3718-6540A>C | not reported | Suspicion of CF:1 | 0.014846 | AG: 0.00 (10) AL: 0.00 (-4) DG: 0.00 (32) DL: 0.00 (-4) | ||
| Intron 22 | c.3718-668T>A | not reported | CF:1 | - | AG: 0.00 (-10) AL: 0.00 (42) DG: 0.00 (-10) DL: 0.00 (-11) | ||
| Intron 22 | c.3718-6952_3718-6943del10 | not reported | Asymptomatic:1 | - | - | ||
| Intron 22 | c.3718-6979T>C | not reported | Suspicion of CF:1 | 0.001242 | AG: 0.00 (-16) AL: 0.00 (-3) DG: 0.00 (34) DL: 0.00 (-44) | ||
| Intron 22 | c.3718-7146A>C | not reported | Infertility:1 | 0.000161 | AG: 0.00 (26) AL: 0.00 (-21) DG: 0.00 (-31) DL: 0.00 (-21) | ||
| Intron 22 | c.3718-770_3718-750dup21 | not reported | Asymptomatic:1 | - | - | ||
| Intron 22 | c.3718-950T>C | not reported | Suspicion of CF:1 | 0.004468 | AG: 0.00 (-42) AL: 0.00 (9) DG: 0.00 (33) DL: 0.00 (-2) | ||
| Intron 23 | c.3874-105T>G | non disease-causing | Asymptomatic:2 CF:3 CFTR-RD:4 Pending:3 | - | - | ||
| Intron 23 | c.3874-200G>A | 4006-200G/A | non disease-causing | Asymptomatic:10 CF:7 CFTR-RD:8 Infertility:1 Pending (NBS):8 Suspicion of CF:14 | Asymptomatic:2 CF:17 CFTR-RD:71 Pending:8 | 0.189379 | AG: 0.00 (21) AL: 0.23 (-45) DG: 0.00 (2) DL: 0.00 (-45) |
| Intron 23 | c.3873+1G>A | 4005+1G>A | disease-causing | Suspicion of CF:1 | CF:17 | - | AG: 0.00 (28) AL: 0.00 (-30) DG: 0.07 (28) DL: 0.98 (-1) |
| Intron 23 | c.3874-1G>A | disease-causing | CF:1 CFTR-RD:1 | - | - | ||
| Intron 23 | c.3874-1_3874delinsAG | disease-causing | Pending:1 | - | - | ||
| Intron 23 | c.3874-4522A>G | disease-causing | CF:2 | CF:2 | 3.5e-05 | AG: 0.02 (1) AL: 0.00 (26) DG: 0.00 (1) DL: 0.00 (9) | |
| Intron 23 | c.3873+112A>C | VUS | CF:1 | - | - | ||
| Intron 23 | c.3874-14C>G | 4006- 14C- >G | VUS | CFTR-RD:1 | - | - | |
| Intron 23 | c.3874-172C>G | VUS | - | - | |||
| Intron 23 | c.3874-19_3874-17del | 4006-19del3 | VUS | Asymptomatic:1 | - | - | |
| Intron 23 | c.3874-4A>G | 4006-4A>G | VUS | CFTR-RD:2 | - | - | |
| Intron 23 | c.3874-71A>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 23 | c.3873+117T>G | not reported | Asymptomatic:2 CFTR-RD:1 Suspicion of CF:1 | 0.036701 | AG: 0.00 (-41) AL: 0.00 (16) DG: 0.00 (0) DL: 0.00 (16) | ||
| Intron 23 | c.3873+1192T>C | not reported | CFTR-RD:1 | 0.037552 | AG: 0.00 (25) AL: 0.00 (11) DG: 0.00 (25) DL: 0.00 (3) | ||
| Intron 23 | c.3873+1477dupT | not reported | Asymptomatic:1 | 0.053074 | AG: 0.00 (-7) AL: 0.00 (37) DG: 0.00 (-7) DL: 0.00 (-20) | ||
| Intron 23 | c.3873+1564C>A | not reported | CFTR-RD:1 | 0.037584 | AG: 0.00 (-32) AL: 0.00 (-14) DG: 0.00 (20) DL: 0.00 (3) | ||
| Intron 23 | c.3873+1595A>T | not reported | Suspicion of CF:1 | 0.022358 | AG: 0.00 (30) AL: 0.00 (2) DG: 0.00 (41) DL: 0.00 (-7) | ||
| Intron 23 | c.3873+1837dupA | not reported | Asymptomatic:1 | 0.053416 | AG: 0.00 (-8) AL: 0.00 (36) DG: 0.00 (-36) DL: 0.00 (-31) | ||
| Intron 23 | c.3873+1886T>C | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.073577 | AG: 0.00 (-15) AL: 0.00 (27) DG: 0.00 (-12) DL: 0.00 (27) | ||
| Intron 23 | c.3873+2423G>A | not reported | Suspicion of CF:1 | 0.014853 | AG: 0.00 (16) AL: 0.00 (-17) DG: 0.00 (-3) DL: 0.00 (-36) | ||
| Intron 23 | c.3873+2704A>G | not reported | CFTR-RD:1 Suspicion of CF:1 | 0.073554 | AG: 0.00 (33) AL: 0.00 (6) DG: 0.00 (-1) DL: 0.00 (36) | ||
| Intron 23 | c.3873+3226_3873+3234del9 | not reported | Asymptomatic:1 | - | - | ||
| Intron 23 | c.3873+3519C>T | not reported | Pending (NBS):1 | 0.000217 | AG: 0.00 (38) AL: 0.00 (12) DG: 0.00 (-24) DL: 0.00 (33) | ||
| Intron 23 | c.3873+3705_3873+3725del21 | not reported | Asymptomatic:1 | - | - | ||
| Intron 23 | c.3873+3877G>A | not reported | Asymptomatic:18 CF:11 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:25 | 0.474597 | AG: 0.00 (-3) AL: 0.00 (-25) DG: 0.00 (-3) DL: 0.00 (40) | ||
| Intron 23 | c.3873+4160G>A | not reported | Suspicion of CF:1 | 0.000238 | AG: 0.00 (-39) AL: 0.00 (0) DG: 0.00 (48) DL: 0.00 (-33) | ||
| Intron 23 | c.3873+4531A>T | not reported | Suspicion of CF:1 | 0.035043 | AG: 0.00 (9) AL: 0.01 (-9) DG: 0.00 (-2) DL: 0.00 (-9) | ||
| Intron 23 | c.3873+4665C>G | not reported | Suspicion of CF:1 | 0.004452 | AG: 0.00 (42) AL: 0.00 (-21) DG: 0.00 (42) DL: 0.00 (-26) | ||
| Intron 23 | c.3873+4830T>C | not reported | Asymptomatic:31 CF:20 CFTR-RD:23 Infertility:2 Pending (NBS):17 Suspicion of CF:43 | 0.995203 | AG: 0.00 (-49) AL: 0.00 (-2) DG: 0.00 (20) DL: 0.00 (-2) | ||
| Intron 23 | c.3873+4851G>C | not reported | Asymptomatic:1 | 7e-06 | AG: 0.00 (-45) AL: 0.00 (-1) DG: 0.00 (32) DL: 0.00 (-1) | ||
| Intron 23 | c.3873+4975C>T | not reported | Suspicion of CF:1 | 0.014806 | AG: 0.00 (-39) AL: 0.00 (28) DG: 0.00 (-27) DL: 0.00 (28) | ||
| Intron 23 | c.3873+5101delA | not reported | Asymptomatic:1 | 0 | AG: 0.00 (15) AL: 0.00 (29) DG: 0.00 (33) DL: 0.00 (5) | ||
| Intron 23 | c.3873+5101dupA | not reported | Asymptomatic:1 CFTR-RD:2 | 0.000432 | AG: 0.00 (29) AL: 0.00 (9) DG: 0.00 (4) DL: 0.00 (5) | ||
| Intron 23 | c.3873+857A>T | not reported | CF:1 | - | AG: 0.00 (-22) AL: 0.00 (30) DG: 0.00 (-22) DL: 0.00 (30) | ||
| Intron 23 | c.3874-1131_3874-1124del8 | not reported | Asymptomatic:1 | - | - | ||
| Intron 23 | c.3874-1387C>T | not reported | Asymptomatic:1 Suspicion of CF:4 | 0.00571 | AG: 0.00 (50) AL: 0.00 (-24) DG: 0.00 (-2) DL: 0.00 (20) | ||
| Intron 23 | c.3874-1764A>G | not reported | Asymptomatic:15 CF:13 CFTR-RD:11 Pending (NBS):13 Suspicion of CF:14 | 0.085085 | AG: 0.00 (-1) AL: 0.19 (-27) DG: 0.02 (-39) DL: 0.01 (9) | ||
| Intron 23 | c.3874-245A>G | not reported | CFTR-RD:1 | - | AG: 0.40 (0) AL: 0.00 (-16) DG: 0.00 (44) DL: 0.00 (0) | ||
| Intron 23 | c.3874-2719T>C | not reported | Suspicion of CF:1 | 0.004516 | AG: 0.00 (0) AL: 0.00 (33) DG: 0.00 (15) DL: 0.00 (-39) | ||
| Intron 23 | c.3874-2820A>T | not reported | Asymptomatic:2 | 0.000649 | AG: 0.00 (48) AL: 0.00 (-2) DG: 0.00 (43) DL: 0.00 (40) | ||
| Intron 23 | c.3874-2835A>T | not reported | Suspicion of CF:1 | 0.022364 | AG: 0.00 (13) AL: 0.00 (2) DG: 0.00 (49) DL: 0.00 (-4) | ||
| Intron 23 | c.3874-3011G>A | not reported | Suspicion of CF:1 | 0.014875 | AG: 0.00 (16) AL: 0.00 (1) DG: 0.00 (-14) DL: 0.00 (25) | ||
| Intron 23 | c.3874-3216T>G | not reported | Suspicion of CF:1 | 0.000224 | AG: 0.00 (-48) AL: 0.00 (38) DG: 0.00 (15) DL: 0.00 (-7) | ||
| Intron 23 | c.3874-3222G>T | not reported | Asymptomatic:7 CF:4 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:5 | 0.149944 | AG: 0.00 (-42) AL: 0.00 (44) DG: 0.00 (-14) DL: 0.00 (-1) | ||
| Intron 23 | c.3874-3323A>T | not reported | Asymptomatic:14 CF:10 CFTR-RD:11 Infertility:1 Pending (NBS):10 Suspicion of CF:10 | 0.41704 | AG: 0.00 (17) AL: 0.00 (-33) DG: 0.00 (-31) DL: 0.00 (34) | ||
| Intron 23 | c.3874-3323delA | not reported | CF:1 Suspicion of CF:2 | 0.118292 | AG: 0.00 (35) AL: 0.00 (-34) DG: 0.00 (37) DL: 0.00 (35) | ||
| Intron 23 | c.3874-3323_3874-3322delAT | not reported | Asymptomatic:3 CF:1 CFTR-RD:3 Pending (NBS):2 Suspicion of CF:4 | 1.5e-05 | AG: 0.00 (-11) AL: 0.00 (-49) DG: 0.00 (-11) DL: 0.00 (-13) | ||
| Intron 23 | c.3874-3325A>T | not reported | CF:1 Suspicion of CF:2 | 0.148564 | AG: 0.00 (19) AL: 0.00 (-31) DG: 0.00 (-31) DL: 0.00 (36) | ||
| Intron 23 | c.3874-3325delA | not reported | Asymptomatic:7 CF:2 CFTR-RD:5 Infertility:1 Pending (NBS):6 Suspicion of CF:3 | 0.159123 | AG: 0.00 (37) AL: 0.00 (-32) DG: 0.00 (-30) DL: 0.00 (37) | ||
| Intron 23 | c.3874-3325_3874-3322delATAT | not reported | Asymptomatic:4 CF:5 Suspicion of CF:2 | 1.5e-05 | AG: 0.00 (-9) AL: 0.00 (-11) DG: 0.00 (-11) DL: 0.00 (-40) | ||
| Intron 23 | c.3874-3325_3874-3323delATA | not reported | Asymptomatic:3 CF:2 | 0.159123 | AG: 0.00 (-30) AL: 0.00 (-32) DG: 0.00 (-30) DL: 0.00 (37) | ||
| Intron 23 | c.3874-3327delA | not reported | Asymptomatic:6 CF:5 CFTR-RD:5 | 0.000895 | AG: 0.00 (39) AL: 0.00 (-30) DG: 0.00 (-28) DL: 0.00 (39) | ||
| Intron 23 | c.3874-3327_3874-3325delATA | not reported | Suspicion of CF:1 | 0.000895 | AG: 0.00 (-28) AL: 0.00 (-30) DG: 0.00 (-28) DL: 0.00 (39) | ||
| Intron 23 | c.3874-3345_3874-3342delGTAT | not reported | Asymptomatic:1 | 0.000131 | AG: 0.00 (-7) AL: 0.00 (-9) DG: 0.00 (-9) DL: 0.00 (-3) | ||
| Intron 23 | c.3874-3345_3874-3344delGT | not reported | Asymptomatic:1 | 0 | AG: 0.00 (4) AL: 0.00 (2) DG: 0.00 (4) DL: 0.00 (2) | ||
| Intron 23 | c.3874-3356T>A | not reported | Asymptomatic:9 CF:8 CFTR-RD:7 Infertility:1 Pending (NBS):8 Suspicion of CF:6 | 0.367145 | AG: 0.00 (2) AL: 0.00 (-2) DG: 0.00 (4) DL: 0.00 (-2) | ||
| Intron 23 | c.3874-3357G>T | not reported | Asymptomatic:8 CF:8 CFTR-RD:7 Infertility:1 Pending (NBS):8 Suspicion of CF:6 | 0.370259 | AG: 0.00 (-16) AL: 0.00 (1) DG: 0.00 (3) DL: 0.00 (-1) | ||
| Intron 23 | c.3874-3359_3874-3358dupTA | not reported | CFTR-RD:1 | 0.087842 | - | ||
| Intron 23 | c.3874-3471_3874-3470dupTA | not reported | CFTR-RD:1 | 0.000103 | - | ||
| Intron 23 | c.3874-3524A>G | not reported | Suspicion of CF:1 | 5.7e-05 | AG: 0.00 (15) AL: 0.00 (-12) DG: 0.00 (-5) DL: 0.00 (-7) | ||
| Intron 23 | c.3874-352delT | not reported | CF:1 Suspicion of CF:1 | 0.000349 | AG: 0.00 (-27) AL: 0.00 (-43) DG: 0.00 (-1) DL: 0.00 (-28) | ||
| Intron 23 | c.3874-3534G>A | not reported | Asymptomatic:1 | - | AG: 0.00 (-25) AL: 0.00 (25) DG: 0.00 (3) DL: 0.00 (-1) | ||
| Intron 23 | c.3874-3538A>G | not reported | Asymptomatic:1 | - | AG: 0.00 (-39) AL: 0.00 (2) DG: 0.00 (-9) DL: 0.00 (-7) | ||
| Intron 23 | c.3874-3540_3874-3539delGT | not reported | Asymptomatic:7 CF:2 CFTR-RD:7 Pending (NBS):4 Suspicion of CF:4 | 3.1e-05 | AG: 0.00 (7) AL: 0.00 (28) DG: 0.00 (13) DL: 0.00 (-13) | ||
| Intron 23 | c.3874-3540_3874-3539dupGT | not reported | Suspicion of CF:1 | - | - | ||
| Intron 23 | c.3874-3542_3874-3539delGTGT | not reported | CFTR-RD:1 Pending (NBS):2 | 3.1e-05 | AG: 0.00 (6) AL: 0.00 (28) DG: 0.00 (15) DL: 0.00 (-13) | ||
| Intron 23 | c.3874-3564A>G | not reported | Asymptomatic:11 CF:5 CFTR-RD:7 Pending (NBS):2 Suspicion of CF:6 | 0.437811 | AG: 0.00 (-13) AL: 0.00 (2) DG: 0.00 (-1) DL: 0.00 (-13) | ||
| Intron 23 | c.3874-3564_3874-3561delATGT | not reported | CFTR-RD:1 | 0 | AG: 0.00 (0) AL: 0.00 (29) DG: 0.00 (0) DL: 0.00 (-12) | ||
| Intron 23 | c.3874-3564_3874-3563delAT | not reported | Asymptomatic:3 CF:3 CFTR-RD:1 Suspicion of CF:1 | 0 | AG: 0.00 (-50) AL: 0.00 (29) DG: 0.00 (0) DL: 0.00 (-12) | ||
| Intron 23 | c.3874-3565_3874-3564insGT | not reported | Suspicion of CF:1 | 0.008796 | - | ||
| Intron 23 | c.3874-3854C>G | not reported | Suspicion of CF:1 | 8.4e-05 | AG: 0.00 (-5) AL: 0.00 (14) DG: 0.00 (-5) DL: 0.00 (19) | ||
| Intron 23 | c.3874-4668_3874-4667delCA | not reported | Asymptomatic:3 CF:2 Suspicion of CF:5 | 0 | AG: 0.00 (-17) AL: 0.00 (18) DG: 0.00 (17) DL: 0.00 (-23) | ||
| Intron 23 | c.3874-4761_3874-4760dupAT | not reported | Asymptomatic:6 CF:4 CFTR-RD:1 Suspicion of CF:3 | 0.158361 | - | ||
| Intron 23 | c.3874-4782T>A | not reported | Suspicion of CF:1 | 0.035722 | AG: 0.00 (2) AL: 0.00 (15) DG: 0.00 (-4) DL: 0.00 (8) | ||
| Intron 23 | c.3874-4797_3874-4796dupCA | not reported | Asymptomatic:1 | 0.021518 | AG: 0.00 (46) AL: 0.00 (-30) DG: 0.00 (46) DL: 0.00 (23) | ||
| Intron 23 | c.3874-4805C>T | not reported | Suspicion of CF:1 | 2.2e-05 | AG: 0.00 (-28) AL: 0.00 (38) DG: 0.00 (-18) DL: 0.00 (45) | ||
| Intron 23 | c.3874-4816A>G | not reported | Suspicion of CF:2 | 0.015952 | AG: 0.00 (-10) AL: 0.00 (-17) DG: 0.00 (-5) DL: 0.00 (-7) | ||
| Intron 23 | c.3874-4818G>A | not reported | Asymptomatic:9 CF:7 CFTR-RD:8 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | 0.163291 | AG: 0.00 (-21) AL: 0.00 (-23) DG: 0.00 (-7) DL: 0.00 (-5) | ||
| Intron 23 | c.3874-4818_3874-4815delGTAT | not reported | Suspicion of CF:1 | 0 | AG: 0.00 (-17) AL: 0.00 (-21) DG: 0.00 (-17) DL: 0.00 (-3) | ||
| Intron 23 | c.3874-4818_3874-4817delGT | not reported | Asymptomatic:7 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):3 Suspicion of CF:4 | 0 | AG: 0.00 (4) AL: 0.00 (2) DG: 0.00 (8) DL: 0.00 (2) | ||
| Intron 23 | c.3874-4818_3874-4817dupGT | not reported | Asymptomatic:1 CF:1 Suspicion of CF:1 | 0.025888 | - | ||
| Intron 23 | c.3874-510T>G | not reported | CFTR-RD:1 | 0.015208 | AG: 0.00 (1) AL: 0.00 (-17) DG: 0.00 (2) DL: 0.00 (-26) | ||
| Intron 23 | c.3874-560C>T | not reported | Asymptomatic:7 CF:4 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:6 | 0.147642 | AG: 0.00 (25) AL: 0.00 (-48) DG: 0.00 (-2) DL: 0.00 (24) | ||
| Intron 23 | c.3874-645A>T | not reported | Asymptomatic:1 | 0.00562 | AG: 0.00 (0) AL: 0.00 (23) DG: 0.00 (-2) DL: 0.00 (35) | ||
| Intron 23 | c.3874-816C>G | not reported | Asymptomatic:1 | 0.005635 | AG: 0.00 (9) AL: 0.00 (3) DG: 0.00 (9) DL: 0.00 (3) | ||
| Intron 24 | c.3963+69A>G | non disease-causing | CFTR-RD:1 | CF:1 CFTR-RD:5 | - | AG: 0.00 (41) AL: 0.00 (12) DG: 0.00 (-36) DL: 0.00 (26) | |
| Intron 24 | c.3964-283T>C | 4096-283T/C | non disease-causing | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | CF:1 CFTR-RD:2 | 0.235361 | AG: 0.00 (30) AL: 0.00 (-7) DG: 0.00 (26) DL: 0.00 (-7) |
| Intron 24 | c.3963+2T>A | 4095+ 2T- >A | disease-causing | Fetal bowel anomalies:1 | - | - | |
| Intron 24 | c.3964-3C>G | 4096-3C>G | disease-causing | CF:3 | - | - | |
| Intron 24 | c.3963+47A>T | VUS | - | - | |||
| Intron 24 | c.3964-93T>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 24 | c.3963+1316C>T | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:16 | 0.199501 | AG: 0.00 (-35) AL: 0.00 (40) DG: 0.00 (4) DL: 0.00 (18) | ||
| Intron 24 | c.3963+1492G>A | not reported | Asymptomatic:1 Suspicion of CF:5 | 0.020917 | AG: 0.00 (2) AL: 0.00 (-34) DG: 0.00 (2) DL: 0.00 (26) | ||
| Intron 24 | c.3963+1556delT | not reported | CFTR-RD:1 | 0.020553 | AG: 0.00 (-25) AL: 0.00 (39) DG: 0.00 (19) DL: 0.00 (1) | ||
| Intron 24 | c.3963+1745C>T | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | 0.234624 | AG: 0.00 (24) AL: 0.00 (-18) DG: 0.00 (-24) DL: 0.00 (45) | ||
| Intron 24 | c.3963+2099G>C | not reported | Asymptomatic:2 CF:1 CFTR-RD:3 | 0.011672 | AG: 0.00 (10) AL: 0.00 (-26) DG: 0.00 (-33) DL: 0.00 (-27) | ||
| Intron 24 | c.3963+2135_3963+2162del28 | not reported | Asymptomatic:1 | - | - | ||
| Intron 24 | c.3963+2390G>A | not reported | Asymptomatic:4 CF:2 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:4 | 0.085611 | AG: 0.00 (24) AL: 0.00 (1) DG: 0.00 (13) DL: 0.00 (-40) | ||
| Intron 24 | c.3963+2655_3963+2663del9 | not reported | Asymptomatic:1 | - | - | ||
| Intron 24 | c.3963+2835A>C | not reported | CFTR-RD:1 | - | AG: 0.00 (11) AL: 0.00 (9) DG: 0.00 (11) DL: 0.00 (9) | ||
| Intron 24 | c.3963+307G>A | not reported | Asymptomatic:1 | 0.000391 | AG: 0.00 (2) AL: 0.00 (-20) DG: 0.00 (4) DL: 0.00 (38) | ||
| Intron 24 | c.3963+3466C>T | not reported | CFTR-RD:1 | 0.000468 | AG: 0.00 (49) AL: 0.00 (-45) DG: 0.00 (-22) DL: 0.00 (30) | ||
| Intron 24 | c.3963+3645G>T | not reported | Asymptomatic:11 CF:8 CFTR-RD:8 Infertility:1 Pending (NBS):10 Suspicion of CF:16 | 0.161134 | AG: 0.00 (3) AL: 0.02 (-50) DG: 0.00 (-2) DL: 0.00 (26) | ||
| Intron 24 | c.3963+4002C>A | not reported | Asymptomatic:2 | - | AG: 0.00 (-35) AL: 0.00 (-50) DG: 0.00 (22) DL: 0.00 (-35) | ||
| Intron 24 | c.3963+4382C>T | not reported | Suspicion of CF:1 | 0.00023 | AG: 0.00 (-40) AL: 0.00 (1) DG: 0.00 (-14) DL: 0.00 (42) | ||
| Intron 24 | c.3963+469G>A | not reported | CF:2 | 2.8e-05 | AG: 0.00 (-11) AL: 0.00 (-1) DG: 0.00 (-11) DL: 0.00 (-1) | ||
| Intron 24 | c.3963+5306C>T | not reported | Suspicion of CF:2 | 0.027669 | AG: 0.00 (43) AL: 0.00 (44) DG: 0.00 (-2) DL: 0.00 (44) | ||
| Intron 24 | c.3963+567T>G | not reported | Asymptomatic:11 CF:8 CFTR-RD:8 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | 0.189093 | AG: 0.00 (1) AL: 0.00 (-23) DG: 0.00 (-1) DL: 0.00 (-9) | ||
| Intron 24 | c.3963+5858C>T | not reported | CFTR-RD:1 | - | AG: 0.00 (-36) AL: 0.00 (25) DG: 0.00 (-36) DL: 0.00 (35) | ||
| Intron 24 | c.3963+696G>A | not reported | Suspicion of CF:1 | 0.000789 | AG: 0.00 (-32) AL: 0.00 (49) DG: 0.00 (-8) DL: 0.00 (-38) | ||
| Intron 24 | c.3964-1091G>A | not reported | CF:1 Suspicion of CF:1 | 0.01387 | AG: 0.00 (41) AL: 0.00 (-20) DG: 0.00 (1) DL: 0.00 (26) | ||
| Intron 24 | c.3964-1161dupA | not reported | CF:3 CFTR-RD:1 | 0.00863 | AG: 0.00 (-1) AL: 0.00 (23) DG: 0.00 (-34) DL: 0.00 (-30) | ||
| Intron 24 | c.3964-1350T>A | not reported | CF:2 Suspicion of CF:1 | 0.000342 | AG: 0.00 (44) AL: 0.00 (39) DG: 0.00 (44) DL: 0.00 (-5) | ||
| Intron 24 | c.3964-1499G>T | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | 0.232963 | AG: 0.00 (-10) AL: 0.00 (1) DG: 0.00 (-42) DL: 0.00 (-25) | ||
| Intron 24 | c.3964-1597C>A | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | 0.232995 | AG: 0.00 (34) AL: 0.00 (-4) DG: 0.00 (-48) DL: 0.00 (21) | ||
| Intron 24 | c.3964-1615_3964-1607del9 | not reported | Asymptomatic:1 | - | - | ||
| Intron 24 | c.3964-180T>G | not reported | CFTR-RD:1 | 0.000733 | AG: 0.00 (11) AL: 0.00 (12) DG: 0.00 (11) DL: 0.00 (-36) | ||
| Intron 24 | c.3964-1832A>C | not reported | Asymptomatic:7 CF:4 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:6 | 0.149487 | AG: 0.00 (36) AL: 0.00 (-6) DG: 0.00 (-11) DL: 0.00 (-7) | ||
| Intron 24 | c.3964-1972G>T | not reported | CF:1 | 0.000195 | AG: 0.00 (13) AL: 0.00 (0) DG: 0.00 (-35) DL: 0.00 (0) | ||
| Intron 24 | c.3964-2060delA | not reported | Suspicion of CF:1 | 0.026785 | AG: 0.00 (-26) AL: 0.00 (3) DG: 0.00 (49) DL: 0.00 (12) | ||
| Intron 24 | c.3964-2682dupA | not reported | CFTR-RD:1 Suspicion of CF:1 | - | - | ||
| Intron 24 | c.3964-2682_3964-2681delAC | not reported | - | - | |||
| Intron 24 | c.3964-2756C>A | not reported | Pending (NBS):1 | 0.005165 | AG: 0.00 (-7) AL: 0.00 (6) DG: 0.00 (22) DL: 0.00 (38) | ||
| Intron 24 | c.3964-2812C>T | not reported | Suspicion of CF:1 | 0.005966 | AG: 0.00 (13) AL: 0.00 (-25) DG: 0.00 (-5) DL: 0.00 (-25) | ||
| Intron 24 | c.3964-3014C>G | not reported | Asymptomatic:2 | 0.001264 | AG: 0.00 (-15) AL: 0.00 (-16) DG: 0.00 (-1) DL: 0.00 (-16) | ||
| Intron 24 | c.3964-3168G>T | not reported | Suspicion of CF:3 | 0.001417 | AG: 0.00 (37) AL: 0.00 (-5) DG: 0.00 (-18) DL: 0.00 (-5) | ||
| Intron 24 | c.3964-3226T>C | not reported | CFTR-RD:1 | 0.016177 | AG: 0.00 (-36) AL: 0.00 (12) DG: 0.00 (10) DL: 0.00 (-15) | ||
| Intron 24 | c.3964-3414G>A | not reported | Asymptomatic:3 CF:2 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:4 | 0.07051 | AG: 0.00 (-19) AL: 0.00 (1) DG: 0.00 (27) DL: 0.00 (37) | ||
| Intron 24 | c.3964-3448T>C | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.051483 | AG: 0.00 (-19) AL: 0.00 (15) DG: 0.00 (25) DL: 0.00 (-2) | ||
| Intron 24 | c.3964-3612_3964-3605del8 | not reported | Asymptomatic:1 | - | - | ||
| Intron 24 | c.3964-3671G>A | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.051359 | AG: 0.00 (4) AL: 0.00 (30) DG: 0.00 (4) DL: 0.00 (30) | ||
| Intron 24 | c.3964-390G>A | not reported | Suspicion of CF:1 | 0.027003 | AG: 0.00 (27) AL: 0.00 (-23) DG: 0.00 (4) DL: 0.00 (-7) | ||
| Intron 24 | c.3964-3993C>T | not reported | Asymptomatic:1 | 0 | AG: 0.00 (47) AL: 0.00 (17) DG: 0.00 (-28) DL: 0.00 (-14) | ||
| Intron 24 | c.3964-3998A>G | not reported | Asymptomatic:3 CF:1 | 0.000419 | AG: 0.00 (20) AL: 0.00 (22) DG: 0.00 (-5) DL: 0.00 (-7) | ||
| Intron 24 | c.3964-4000G>A | not reported | Asymptomatic:9 CF:6 CFTR-RD:9 Infertility:1 Pending (NBS):9 Suspicion of CF:14 | 0.196407 | AG: 0.00 (22) AL: 0.00 (20) DG: 0.00 (-7) DL: 0.00 (-5) | ||
| Intron 24 | c.3964-4000_3964-3999delGT | not reported | Asymptomatic:5 CF:3 CFTR-RD:3 Suspicion of CF:4 | 2.1e-05 | AG: 0.00 (4) AL: 0.00 (44) DG: 0.00 (17) DL: 0.00 (1) | ||
| Intron 24 | c.3964-4000_3964-3999dupGT | not reported | Asymptomatic:5 CF:4 CFTR-RD:3 Pending (NBS):1 Suspicion of CF:4 | 0.171424 | - | ||
| Intron 24 | c.3964-4002_3964-3999dupGTGT | not reported | CF:1 | 0.003755 | - | ||
| Intron 24 | c.3964-4255A>C | not reported | Suspicion of CF:2 | 0.027979 | AG: 0.00 (18) AL: 0.00 (36) DG: 0.00 (-49) DL: 0.00 (16) | ||
| Intron 24 | c.3964-4483C>G | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:15 | 0.234521 | AG: 0.00 (1) AL: 0.00 (-4) DG: 0.00 (0) DL: 0.00 (-34) | ||
| Intron 24 | c.3964-4498_3964-4488del11 | not reported | Pending (NBS):1 | - | - | ||
| Intron 24 | c.3964-4554A>C | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:14 | 0.235278 | AG: 0.00 (5) AL: 0.00 (-48) DG: 0.00 (-2) DL: 0.00 (-45) | ||
| Intron 24 | c.3964-4760delC | not reported | Suspicion of CF:1 | 0.0006 | AG: 0.00 (20) AL: 0.00 (-13) DG: 0.00 (11) DL: 0.00 (22) | ||
| Intron 24 | c.3964-4961C>T | not reported | Asymptomatic:1 | 7.7e-05 | AG: 0.00 (-42) AL: 0.00 (-7) DG: 0.00 (-42) DL: 0.00 (19) | ||
| Intron 24 | c.3964-5188T>C | not reported | Infertility:1 | - | AG: 0.00 (-21) AL: 0.00 (14) DG: 0.00 (13) DL: 0.00 (14) | ||
| Intron 24 | c.3964-5308G>A | not reported | Asymptomatic:11 CF:11 CFTR-RD:8 Pending (NBS):13 Suspicion of CF:11 | 0.011503 | AG: 0.00 (13) AL: 0.00 (-39) DG: 0.00 (2) DL: 0.00 (-25) | ||
| Intron 24 | c.3964-576G>T | not reported | Pending (NBS):1 | 0.000852 | AG: 0.00 (43) AL: 0.00 (-21) DG: 0.00 (-23) DL: 0.00 (21) | ||
| 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) |
| Intron 25 | c.4136+5G>A | disease-causing | CFTR-RD:1 | - | - | ||
| Intron 25 | c.4137-116G>T | VUS | - | - | |||
| Intron 25 | c.4137-136A>G | VUS | CF:1 CFTR-RD:1 | - | - | ||
| Intron 25 | c.4137-89A>G | VUS | CF:1 | - | - | ||
| Intron 25 | c.4137-94T>A | VUS | - | - | |||
| Intron 25 | c.4136+192G>A | not reported | Suspicion of CF:1 | 0.004224 | AG: 0.00 (-43) AL: 0.00 (4) DG: 0.00 (-25) DL: 0.00 (6) | ||
| Intron 25 | c.4136+237C>T | not reported | Asymptomatic:7 CF:4 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:6 | 0.149532 | AG: 0.00 (10) AL: 0.00 (-41) DG: 0.00 (-2) DL: 0.00 (0) | ||
| Intron 26 | c.4242+13A>G | 4374+13A/G | non disease-causing | Suspicion of CF:1 | CF:4 CFTR-RD:4 | 0.002916 | AG: 0.00 (-46) AL: 0.00 (-41) DG: 0.00 (-10) DL: 0.00 (-13) |
| Intron 26 | c.4242+1G>A | 4374+1G>A | disease-causing | Asymptomatic:2 CF:3 | - | - | |
| Intron 26 | c.4243-7del | disease-causing | CFTR-RD:2 | - | - | ||
| Intron 26 | c.4242+65G>A | VUS | CF:1 | - | - | ||
| Intron 26 | c.4242+71G>T | VUS | - | - | |||
| Intron 26 | c.4243-16A>G | VUS | CFTR-RD:2 | - | - | ||
| Intron 26 | c.4243-20A>G | VUS | - | - | |||
| Intron 26 | c.4243-2A>C | VUS | Pending:1 | - | - | ||
| Intron 26 | c.4243-32del | VUS | CFTR-RD:1 | - | - | ||
| Intron 26 | c.4243-33del | VUS | - | - | |||
| Intron 26 | c.4243-35del | 4375-36delT | VUS | - | - | ||
| Intron 26 | c.4242+198T>C | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | 0.235442 | AG: 0.00 (1) AL: 0.00 (-9) DG: 0.00 (1) DL: 0.00 (-15) | ||
| Intron 26 | c.4242+327C>G | not reported | Asymptomatic:1 Suspicion of CF:1 | - | AG: 0.00 (-16) AL: 0.00 (49) DG: 0.00 (-5) DL: 0.00 (17) | ||
| Intron 26 | c.4242+347A>G | not reported | Asymptomatic:1 Suspicion of CF:1 | 1.4e-05 | AG: 0.00 (-36) AL: 0.00 (11) DG: 0.00 (17) DL: 0.00 (-25) | ||
| Intron 26 | c.4242+532C>T | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.051446 | AG: 0.00 (32) AL: 0.00 (-13) DG: 0.00 (-14) DL: 0.00 (31) | ||
| Intron 26 | c.4242+67G>A | not reported | CF:1 | 0.000489 | AG: 0.00 (45) AL: 0.00 (32) DG: 0.00 (-3) DL: 0.00 (24) |