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CFTR- France & CFTR-NGS catalog have retrieved 1638 SUBSTITUTIONS, 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) |
|---|---|---|---|---|---|---|---|
| UTR 5 | c.-118G>A | non disease-causing | - | - | |||
| UTR 5 | c.-85C>G | 48C/G | non disease-causing | CF:1 | - | - | |
| UTR 5 | c.-8G>C | 125G/C | non disease-causing | Asymptomatic:1 CF:1 CFTR-RD:1 Pending (NBS):3 Suspicion of CF:4 | Asymptomatic:2 CF:22 CFTR-RD:33 Fetal bowel anomalies:1 Pending:5 | 0.043129 | AG: 0.00 (-14) AL: 0.00 (32) DG: 0.00 (-15) DL: 0.00 (31) |
| UTR 5 | c.-966T>G | -834T/G ; -895T/G (from the cap site) | non disease-causing | CF:1 CFTR-RD:7 | - | - | |
| UTR 5 | c.-165G>A | -33G>A | VUS | CFTR-RD:1 | - | - | |
| UTR 5 | c.-226G>T | VUS | CFTR-RD:1 | - | - | ||
| UTR 5 | c.-234T>A | -102T>A | VUS | CF:2 | - | - | |
| UTR 5 | c.-274C>A | VUS | CFTR-RD:1 | - | - | ||
| UTR 5 | c.-288G>C | VUS | Pending:1 | - | - | ||
| UTR 5 | c.-2C>T | VUS | CFTR-RD:1 | - | - | ||
| UTR 5 | c.-330T>G | VUS | Asymptomatic:1 | - | - | ||
| UTR 5 | c.-34C>T | 99C/T | VUS | CFTR-RD:1 | - | - | |
| UTR 5 | c.-461A>G | -329A/G | VUS | CFTR-RD:1 | - | - | |
| UTR 5 | c.-4G>C | 129G/C | VUS | CF:1 | - | - | |
| UTR 5 | c.-730A>G | VUS | - | - | |||
| UTR 5 | c.-812T>G | -741T>G | VUS | - | - | ||
| Exon 1 | c.1A>G | M1V | disease-causing | CF:6 CFTR-RD:3 | - | - | |
| Exon 1 | c.2T>A | M1K | disease-causing | CF:1 | - | - | |
| Exon 1 | c.2T>C | M1T | disease-causing | CF:4 | - | - | |
| Exon 1 | c.3G>A | M1I(ATA) | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 1 | c.4C>T | Q2X (together with R3W) | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 1 | c.7A>T | Q2X (together with R3W) | VUS | - | - | ||
| Exon 1 | c.8G>T | R3M | VUS | Asymptomatic:1 | - | - | |
| Exon 1 | c.11C>A | S4X | disease-causing | CF:3 | - | - | |
| Exon 1 | c.14C>T | P5L | disease-causing | CF:1 CFTR-RD:2 Pending:2 | - | - | |
| Exon 1 | c.26C>T | VUS | CF:1 | - | - | ||
| Exon 1 | c.31G>A | 163G/A | VUS | CFTR-RD:1 | - | - | |
| Exon 1 | c.37T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 1 | c.38C>T | S13F | disease-causing | CF:1 | - | - | |
| Exon 1 | c.40A>T | K14X | disease-causing | CF:2 | - | - | |
| Exon 1 | c.44T>C | L15P | disease-causing | - | - | ||
| Intron 1 | c.53+1G>T | 185+1G>T | disease-causing | CF:1 Fetal bowel anomalies: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.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+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+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+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.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.54-589A>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.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.54-877A>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.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+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+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+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+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+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+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+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+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.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.54-2477C>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.54-2542C>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.54-4180A>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.54-5047A>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.54-6168A>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.54-6907A>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.54-7449T>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.54-7589A>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.54-8288C>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.54-9095C>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.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.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.54-10943G>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.54-11388A>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) | ||
| Exon 2 | c.57G>A | W19X | disease-causing | - | - | ||
| Exon 2 | c.57G>T | W19C | VUS | - | - | ||
| Exon 2 | c.79G>A | G27R | disease-causing | - | - | ||
| Exon 2 | c.79G>C | G27R(211G to C) | VUS | CF:1 | - | - | |
| Exon 2 | c.79G>T | G27X | disease-causing | CF:1 | - | - | |
| Exon 2 | c.80G>A | G27E | VUS | CF:1 | - | - | |
| Exon 2 | c.91C>T | R31C ; 223C/T | VUS | CFTR-RD:1 Pending (NBS):1 | Asymptomatic:4 CF:2 CFTR-RD:9 Pending:1 | 0.001187 | AG: 0.00 (-34) AL: 0.00 (-37) DG: 0.00 (-17) DL: 0.00 (10) |
| Exon 2 | c.92G>T | R31L | VUS | - | - | ||
| Exon 2 | c.95T>C | VUS | CF:1 | - | - | ||
| Exon 2 | c.106G>A | D36N | VUS | Fetal bowel anomalies:1 | - | - | |
| Exon 2 | c.122C>G | P41R | VUS | Asymptomatic:1 | - | - | |
| Exon 2 | c.125C>T | S42F | VUS | CFTR-RD:2 | - | - | |
| Exon 2 | c.131A>G | D44G | disease-causing | CF:2 | - | - | |
| Exon 2 | c.137C>A | A46D | disease-causing | CF:3 CFTR-RD:2 | - | - | |
| Exon 2 | c.137C>T | A46V | VUS | - | - | ||
| Exon 2 | c.148T>C | S50P | disease-causing | CF:1 | - | - | |
| Exon 2 | c.154A>T | K52X | disease-causing | - | - | ||
| Exon 2 | c.157T>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 2 | c.164G>A | R55K | VUS | CFTR-RD:1 | - | - | |
| 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+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+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+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.165-188G>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.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.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.165-2037G>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) | ||
| Exon 3 | c.166G>A | E56K | disease-causing | Asymptomatic:1 CFTR-RD:9 | - | - | |
| Exon 3 | c.169T>G | W57G | disease-causing | CF:2 | - | - | |
| Exon 3 | c.170G>A | W57X(TAG) | disease-causing | - | - | ||
| Exon 3 | c.171G>A | W57X(TGA) | disease-causing | CF:3 Pending:1 | - | - | |
| Exon 3 | c.173A>G | D58G | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.178G>A | E60K | disease-causing | CF:2 | - | - | |
| Exon 3 | c.178G>T | E60X | disease-causing | CF:15 CFTR-RD:4 Pending:1 | - | - | |
| Exon 3 | c.200C>T | P67L | disease-causing | Asymptomatic:1 CF:1 | - | - | |
| Exon 3 | c.202A>G | K68E | VUS | Fetal bowel anomalies:1 | - | - | |
| Exon 3 | c.215C>A | A72D | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.220C>T | R74W | disease-causing | CFTR-RD:1 Suspicion of CF:1 | Asymptomatic:9 CF:3 CFTR-RD:52 Pending:11 | 0.004335 | AG: 0.00 (42) AL: 0.00 (-43) DG: 0.00 (6) DL: 0.00 (50) |
| Exon 3 | c.221G>A | R74Q | VUS | CFTR-RD:2 Pending:1 | - | - | |
| Exon 3 | c.223C>T | R75X | disease-causing | CF:4 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 3 | c.224G>A | R75Q | non disease-causing | CFTR-RD:1 Pending (NBS):1 | Asymptomatic:4 CF:4 CFTR-RD:30 Pending:1 | 0.018927 | AG: 0.00 (48) AL: 0.00 (-47) DG: 0.00 (-3) DL: 0.06 (49) |
| Exon 3 | c.224G>T | R75L | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.228T>G | VUS | CFTR-RD:2 | - | - | ||
| Exon 3 | c.235T>C | W79R | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.236G>A | W79X | disease-causing | CF:2 | - | - | |
| Exon 3 | c.244A>G | M82V | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.250T>C | Y84H | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.254G>A | G85E | disease-causing | CF:1 | CF:30 CFTR-RD:7 Pending:1 | 5.6e-05 | AG: 0.00 (18) AL: 0.00 (-14) DG: 0.00 (-9) DL: 0.12 (19) |
| Exon 3 | c.254G>T | G85V | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 3 | c.258C>G | I86M | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.259T>C | F87L | VUS | CF:3 | - | - | |
| Exon 3 | c.263T>G | L88X | disease-causing | CFTR-RD:1 | - | - | |
| Exon 3 | c.266A>G | Y89C | VUS | - | - | ||
| Exon 3 | c.271G>A | G91R | disease-causing | CF:4 | - | - | |
| Intron 3 | c.273+1G>A | 405+1G>A | disease-causing | CF:2 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Intron 3 | c.273+4A>G | 405+ 4A- >G | VUS | Pending:2 | - | - | |
| 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.274-6T>C | 406-6T>C | VUS | Asymptomatic:2 CFTR-RD:4 | - | - | |
| Intron 3 | c.273+27A>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 3 | c.273+46T>G | 405+46G/T | non disease-causing | CFTR-RD:1 | - | - | |
| 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+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+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+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.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.274-516A>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.274-560G>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.274-756C>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.274-848G>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.274-958T>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.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+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+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+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+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+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+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+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+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+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+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+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.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.274-4164C>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.274-5606T>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.274-5806A>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.274-6090T>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.274-6514T>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.274-7868T>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.274-8604G>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.274-9716T>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 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.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.274-10690T>C | not reported | Asymptomatic:1 | 0.000147 | AG: 0.00 (8) AL: 0.00 (22) DG: 0.00 (36) DL: 0.00 (-40) | ||
| Exon 4 | c.274G>A | E92K | disease-causing | CF:7 CFTR-RD:4 Pending:1 | - | - | |
| Exon 4 | c.274G>T | E92X | disease-causing | - | - | ||
| Exon 4 | c.278T>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 4 | c.283A>G | VUS | CF:1 | - | - | ||
| Exon 4 | c.287C>A | A96E | VUS | Pending:1 | - | - | |
| Exon 4 | c.293A>G | Q98R | disease-causing | CF:1 | - | - | |
| Exon 4 | c.296C>G | P99R | disease-causing | CF:1 | - | - | |
| Exon 4 | c.296C>T | P99L | disease-causing | CFTR-RD:1 | - | - | |
| Exon 4 | c.298C>G | VUS | Asymptomatic:1 | - | - | ||
| Exon 4 | c.302T>C | L101S | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.305T>C | L102P | VUS | CF:1 | - | - | |
| Exon 4 | c.314T>A | I105N | VUS | CF:1 | - | - | |
| Exon 4 | c.323C>T | S108F | disease-causing | CFTR-RD:1 | - | - | |
| Exon 4 | c.325T>A | Y109N | VUS | - | - | ||
| Exon 4 | c.326A>G | Y109C | VUS | - | - | ||
| Exon 4 | c.327T>A | Y109X | disease-causing | CF:1 | - | - | |
| Exon 4 | c.328G>C | D110H | disease-causing | CF:5 CFTR-RD:6 Pending:1 | - | - | |
| Exon 4 | c.330C>A | D110E | disease-causing | CF:2 | - | - | |
| Exon 4 | c.331C>G | P111A | disease-causing | - | - | ||
| Exon 4 | c.332C>T | P111L | disease-causing | CFTR-RD:2 | - | - | |
| Exon 4 | c.334G>A | VUS | - | - | |||
| Exon 4 | c.346G>A | E116K | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 4 | c.349C>G | R117G | disease-causing | CFTR-RD:2 | - | - | |
| Exon 4 | c.349C>T | R117C | disease-causing | Asymptomatic:2 CF:1 CFTR-RD:12 Fetal bowel anomalies:1 Pending:2 | - | - | |
| Exon 4 | c.350G>A | R117H | disease-causing | CF:1 CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | Asymptomatic:10 CF:4 CFTR-RD:142 Fetal bowel anomalies:1 Pending:55 | 0.001591 | AG: 0.00 (21) AL: 0.00 (-7) DG: 0.00 (-8) DL: 0.05 (46) |
| Exon 4 | c.350G>C | R117P | VUS | CF:1 | - | - | |
| Exon 4 | c.350G>T | R117L | disease-causing | CF:2 | - | - | |
| Exon 4 | c.355A>G | I119V | VUS | Asymptomatic:1 | - | - | |
| Exon 4 | c.357C>G | I119M | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.357C>T | VUS | Pending:1 | - | - | ||
| Exon 4 | c.358G>A | A120T | VUS | CFTR-RD:1 Pending:1 | - | - | |
| Exon 4 | c.359C>T | A120V | VUS | - | - | ||
| Exon 4 | c.360G>A | A120A (492G/A) | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.365A>G | Y122C | VUS | Fetal bowel anomalies:1 | - | - | |
| Exon 4 | c.366T>A | Y122X | disease-causing | Asymptomatic:2 CF:31 CFTR-RD:10 Fetal bowel anomalies:2 Pending:5 | - | - | |
| Exon 4 | c.377G>A | G126D | disease-causing | CF:1 | - | - | |
| Exon 4 | c.410T>G | L137R | VUS | - | - | ||
| Exon 4 | c.415C>T | VUS | CF:1 | - | - | ||
| Exon 4 | c.416A>G | H139R | disease-causing | - | - | ||
| Exon 4 | c.422C>A | A141D | VUS | CF:1 | - | - | |
| Exon 4 | c.433C>G | VUS | CFTR-RD:1 Fetal bowel anomalies:1 | - | - | ||
| Exon 4 | c.437A>G | H146R | VUS | Pending:1 | - | - | |
| Exon 4 | c.443T>C | I148T | non disease-causing | Asymptomatic:1 CF:8 CFTR-RD:7 Pending:1 | - | - | |
| Exon 4 | c.445G>A | G149R | disease-causing | CF:5 | - | - | |
| Exon 4 | c.451C>A | Q151K | VUS | CFTR-RD:2 | - | - | |
| Exon 4 | c.454A>G | M152V | disease-causing | CF:3 | - | - | |
| Exon 4 | c.454A>T | M152L | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.472A>C | S158R | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.472A>G | VUS | CFTR-RD:2 | - | - | ||
| Exon 4 | c.473G>A | S158N | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.473G>C | S158T | VUS | Fetal bowel anomalies:1 | - | - | |
| Exon 4 | c.476T>C | L159S | VUS | Asymptomatic:1 CFTR-RD:1 | - | - | |
| Exon 4 | c.481T>A | Y161N | VUS | CFTR-RD:2 | - | - | |
| Exon 4 | c.481T>G | Y161D | disease-causing | - | - | ||
| Exon 4 | c.482A>C | Y161S | VUS | - | - | ||
| Exon 4 | c.487A>C | VUS | CFTR-RD:1 | - | - | ||
| 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:1 Pending:1 | - | - | |
| 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.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.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.490-165T>C | VUS | CFTR-RD:1 | - | - | ||
| 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.490-698T>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 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.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) | ||
| Exon 5 | c.490A>C | VUS | Pending:1 | - | - | ||
| Exon 5 | c.494T>C | L165S | disease-causing | CF:7 CFTR-RD:1 Pending:1 | - | - | |
| Exon 5 | c.500T>G | VUS | CF:2 | - | - | ||
| Exon 5 | c.508C>T | R170C | VUS | CFTR-RD:2 Pending:1 | - | - | |
| Exon 5 | c.509G>A | R170H | disease-causing | CFTR-RD:12 | - | - | |
| Exon 5 | c.523A>G | I175V | disease-causing | CF:2 | - | - | |
| Exon 5 | c.527G>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 5 | c.532G>A | G178R | disease-causing | CF:9 | - | - | |
| Exon 5 | c.533G>A | G178E | VUS | - | - | ||
| Exon 5 | c.535C>A | Q179K | VUS | CFTR-RD:1 | - | - | |
| Exon 5 | c.544A>C | VUS | Pending:1 | - | - | ||
| Exon 5 | c.547C>A | L183I | VUS | CF:1 | - | - | |
| Exon 5 | c.558C>A | N186K | VUS | CF:1 CFTR-RD:2 | - | - | |
| Exon 5 | c.571T>G | disease-causing | CF:1 CFTR-RD:2 Pending:1 | - | - | ||
| Exon 5 | c.574G>A | D192N | VUS | CF:1 | - | - | |
| Exon 5 | c.575A>G | D192G | disease-causing | - | - | ||
| Exon 5 | c.577G>A | E193K | disease-causing | - | - | ||
| Exon 5 | c.577G>T | E193X | disease-causing | CF:2 | - | - | |
| 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) | ||
| Exon 6 | c.580G>A | G194R | disease-causing | - | - | ||
| Exon 6 | c.581G>T | G194V | disease-causing | CFTR-RD:3 | - | - | |
| Exon 6 | c.595C>T | H199Y | disease-causing | CF:5 | - | - | |
| Exon 6 | c.596A>G | H199R | disease-causing | CF:1 Fetal bowel anomalies:2 | - | - | |
| Exon 6 | c.598T>A | F200I | disease-causing | CFTR-RD:2 | - | - | |
| Exon 6 | c.601G>A | V201M | disease-causing | CFTR-RD:1 | Asymptomatic:3 CF:3 CFTR-RD:33 Pending:7 | 0.000454 | AG: 0.00 (22) AL: 0.05 (-21) DG: 0.00 (-21) DL: 0.00 (16) |
| Exon 6 | c.609C>G | I203M | VUS | CFTR-RD:1 | - | - | |
| Exon 6 | c.613C>T | P205S | disease-causing | CF:6 CFTR-RD:3 | - | - | |
| Exon 6 | c.617T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 6 | c.617T>G | L206W | disease-causing | Asymptomatic:2 CF:26 CFTR-RD:65 Pending:27 | - | - | |
| Exon 6 | c.618G>T | L206F | VUS | CF:1 | - | - | |
| Exon 6 | c.619C>T | Q207X | disease-causing | - | - | ||
| Exon 6 | c.627A>G | A209A (759A/G) | VUS | CF:2 | CF:3 CFTR-RD:1 Pending:2 | 2.1e-05 | AG: 0.02 (-47) AL: 0.00 (34) DG: 0.00 (33) DL: 0.00 (-10) |
| Exon 6 | c.647G>A | W216X | disease-causing | CF:1 | - | - | |
| Exon 6 | c.650A>G | E217G | VUS | Asymptomatic:2 CF:1 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 6 | c.658C>T | Q220X | disease-causing | CF:16 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 6 | c.674G>A | VUS | Pending:1 | - | - | ||
| Exon 6 | c.680T>C | VUS | - | - | |||
| Exon 6 | c.680T>G | L227R | disease-causing | CF:10 CFTR-RD:2 Pending:1 | - | - | |
| Exon 6 | c.695T>A | V232D | disease-causing | CF:5 CFTR-RD:8 Pending:1 | - | - | |
| Exon 6 | c.701C>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 6 | c.709C>G | Q237E | disease-causing | Asymptomatic:1 CF:3 Pending:1 | - | - | |
| Exon 6 | c.710A>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 6 | c.711G>C | Q237H | VUS | - | - | ||
| Exon 6 | c.715G>A | G239R | VUS | CFTR-RD:1 | - | - | |
| Exon 6 | c.721G>T | VUS | Asymptomatic:2 CFTR-RD:1 | - | - | ||
| Exon 6 | c.731T>A | M244K | VUS | CFTR-RD:1 | - | - | |
| 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.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) | ||
| Exon 7 | c.745G>T | D249Y | VUS | CFTR-RD:1 | - | - | |
| Exon 7 | c.769G>T | E257X | disease-causing | CFTR-RD:1 | - | - | |
| Exon 7 | c.772A>G | R258G | disease-causing | Asymptomatic:1 | Asymptomatic:1 CF:1 CFTR-RD:4 | 0.000112 | AG: 0.00 (-28) AL: 0.01 (-26) DG: 0.00 (-6) DL: 0.00 (5) |
| Exon 7 | c.774A>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 7 | c.794T>G | M265R | disease-causing | - | - | ||
| Exon 7 | c.808C>T | Q270X | disease-causing | Asymptomatic:1 CFTR-RD:1 | - | - | |
| Exon 7 | c.825C>G | Y275X | disease-causing | CF:1 | - | - | |
| Exon 7 | c.837A>T | E279D | VUS | CFTR-RD:1 | - | - | |
| Exon 7 | c.846A>T | E282D | VUS | CFTR-RD:1 | - | - | |
| Exon 7 | c.859A>T | N287Y | VUS | CF:1 | - | - | |
| Exon 7 | c.861C>G | VUS | - | - | |||
| Exon 7 | c.868C>T | Q290X | disease-causing | CF:2 CFTR-RD:2 | - | - | |
| Intron 7 | c.869+5G>A | disease-causing | CF:1 | - | - | ||
| Intron 7 | c.869+5G>T | VUS | CFTR-RD:1 | - | - | ||
| Intron 7 | c.869+8G>T | VUS | - | - | |||
| 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:260 CFTR-RD:353 Fetal bowel anomalies:2 Pending:58 | 0.075448 | AG: 0.00 (-41) AL: 0.00 (-11) DG: 0.00 (-7) DL: 0.00 (16) |
| 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.870-12T>A | disease-causing | CF:2 | - | - | ||
| 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.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.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.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.870-1095A>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.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.870-1400A>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) | ||
| Exon 8 | c.874G>A | E292K | VUS | CF:1 | - | - | |
| Exon 8 | c.874G>T | E292X | disease-causing | CF:1 | - | - | |
| Exon 8 | c.890G>A | R297Q | VUS | Asymptomatic:1 CFTR-RD:2 Pending:1 | - | - | |
| Exon 8 | c.899C>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 8 | c.902A>G | Y301C | VUS | Asymptomatic:1 CFTR-RD:1 | - | - | |
| Exon 8 | c.912C>G | Y304X | disease-causing | CF:3 | - | - | |
| Exon 8 | c.920G>A | S307N | VUS | CFTR-RD:1 | - | - | |
| Exon 8 | c.926C>G | A309G | VUS | CFTR-RD:1 | - | - | |
| Exon 8 | c.933C>A | F311L(C->A) | disease-causing | - | - | ||
| Exon 8 | c.933C>G | F311L | disease-causing | CF:4 CFTR-RD:1 Pending:2 | - | - | |
| Exon 8 | c.941G>A | G314E | disease-causing | - | - | ||
| Exon 8 | c.941G>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 8 | c.941G>T | G314V | VUS | Asymptomatic:1 Pending:1 | - | - | |
| Exon 8 | c.958T>G | L320V | VUS | Asymptomatic:2 CFTR-RD:2 | - | - | |
| Exon 8 | c.959T>A | L320X | disease-causing | CF:1 | - | - | |
| Exon 8 | c.964G>A | V322M (1096(G/A)) | VUS | Asymptomatic:2 | - | - | |
| Exon 8 | c.965T>C | V322A | VUS | - | - | ||
| Exon 8 | c.979C>G | L327V | VUS | Pending:1 | - | - | |
| Exon 8 | c.980T>G | L327R | VUS | CFTR-RD:1 | - | - | |
| Exon 8 | c.1000C>T | R334W | disease-causing | CF:27 CFTR-RD:4 Pending:2 | - | - | |
| Exon 8 | c.1001G>A | R334Q | disease-causing | CFTR-RD:1 | - | - | |
| Exon 8 | c.1001G>T | R334L | disease-causing | CFTR-RD:1 | - | - | |
| Exon 8 | c.1007T>A | I336K | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 8 | c.1013C>T | T338I | disease-causing | Asymptomatic:1 CF:2 CFTR-RD:5 Pending:5 | - | - | |
| Exon 8 | c.1021T>C | S341P | disease-causing | - | - | ||
| Exon 8 | c.1037T>C | L346P | disease-causing | - | - | ||
| Exon 8 | c.1039C>T | R347C | VUS | CFTR-RD:1 | - | - | |
| Exon 8 | c.1040G>A | R347H | disease-causing | Asymptomatic:3 CF:20 CFTR-RD:16 Pending:8 | - | - | |
| Exon 8 | c.1040G>C | R347P | disease-causing | CF:27 CFTR-RD:9 Fetal bowel anomalies:1 | - | - | |
| Exon 8 | c.1040G>T | R347L | disease-causing | Asymptomatic:1 CF:2 | - | - | |
| Exon 8 | c.1043T>A | M348K | VUS | Asymptomatic:1 CF:1 CFTR-RD:1 | - | - | |
| Exon 8 | c.1046C>T | A349V | VUS | CFTR-RD:1 | - | - | |
| Exon 8 | c.1052C>G | T351S | VUS | Asymptomatic:2 CF:1 CFTR-RD:10 | - | - | |
| Exon 8 | c.1054C>G | R352G | VUS | CF:2 | - | - | |
| Exon 8 | c.1054C>T | R352W | disease-causing | CFTR-RD:7 | - | - | |
| Exon 8 | c.1055G>A | R352Q | disease-causing | CF:5 CFTR-RD:1 | - | - | |
| Exon 8 | c.1057C>T | Q353X | disease-causing | Asymptomatic:1 | - | - | |
| Exon 8 | c.1064C>T | VUS | Asymptomatic:1 | - | - | ||
| Exon 8 | c.1069G>A | A357T | VUS | Pending (NBS):1 | Pending:2 | - | AG: 0.00 (13) AL: 0.00 (0) DG: 0.03 (13) DL: 0.00 (-22) |
| Exon 8 | c.1070C>T | A357V | VUS | Pending:1 | - | - | |
| Exon 8 | c.1076A>G | Q359R | disease-causing | CF:1 | - | - | |
| Exon 8 | c.1081T>A | W361R(T>A) | VUS | - | - | ||
| Exon 8 | c.1081T>C | W361R(T>C) | disease-causing | CF:1 | - | - | |
| Exon 8 | c.1090T>C | S364P | VUS | CF:2 | - | - | |
| Exon 8 | c.1116G>A | VUS | CFTR-RD: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+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+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.1117-559G>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) | ||
| Exon 9 | c.1118A>G | VUS | Asymptomatic:1 | - | - | ||
| Exon 9 | c.1125A>C | L375F | VUS | CFTR-RD:1 | - | - | |
| Exon 9 | c.1135G>A | E379K | VUS | CFTR-RD:1 | - | - | |
| Exon 9 | c.1139A>G | Y380C | VUS | CFTR-RD:1 | - | - | |
| Exon 9 | c.1163C>T | T388M | VUS | CFTR-RD:1 | - | - | |
| Exon 9 | c.1175T>G | V392G | disease-causing | CF:1 | - | - | |
| Exon 9 | c.1177G>C | V393L | VUS | CFTR-RD:1 | - | - | |
| Exon 9 | c.1202G>A | W401X(TAG) | disease-causing | CFTR-RD:1 | - | - | |
| Exon 9 | c.1203G>A | W401X(TGA) | disease-causing | CF:4 | - | - | |
| Exon 9 | c.1209G>A | E403E (1341G/A) | disease-causing | CF:2 | - | - | |
| Exon 9 | c.1209G>C | E403D | disease-causing | CF:3 Pending:1 | - | - | |
| 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.1210-6T>A | VUS | CF:1 | - | - | ||
| 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.1210-32T>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.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.1210-275A>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.1210-584T>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.1210-873G>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 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+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+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+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.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.1210-1234T>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.1210-1638C>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.1210-2000G>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.1210-2816T>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) | ||
| Exon 10 | c.1240C>T | Q414X | disease-causing | CF:1 | - | - | |
| Exon 10 | c.1254T>C | not reported | 0 | AG: 0.01 (-44) AL: 0.00 (39) DG: 0.01 (16) DL: 0.00 (39) | |||
| Exon 10 | c.1270G>A | G424S | VUS | Asymptomatic:1 CFTR-RD:1 | - | - | |
| Exon 10 | c.1278C>T | not reported | 0 | AG: 0.01 (50) AL: 0.00 (3) DG: 0.00 (-8) DL: 0.00 (13) | |||
| Exon 10 | c.1315C>T | P439S | VUS | CFTR-RD:1 | - | - | |
| Exon 10 | c.1327G>T | D443Y | disease-causing | Asymptomatic:5 CFTR-RD:63 Pending:3 | - | - | |
| Exon 10 | c.1331T>C | I444T | VUS | CFTR-RD:3 | - | - | |
| Exon 10 | c.1355A>C | Q452P | VUS | CF:2 Pending:1 | - | - | |
| Exon 10 | c.1358T>C | L453S | disease-causing | - | - | ||
| Exon 10 | c.1364C>A | A455E | disease-causing | CF:25 CFTR-RD:4 Pending:2 | - | - | |
| Exon 10 | c.1364C>T | A455V | VUS | Pending:1 | - | - | |
| Exon 10 | c.1365G>A | VUS | - | - | |||
| Exon 10 | c.1366G>T | V456F | VUS | - | - | ||
| Exon 10 | c.1367T>C | V456A | disease-causing | CF:1 CFTR-RD:2 | - | - | |
| Exon 10 | c.1373G>T | G458V | VUS | CF:2 CFTR-RD:1 | - | - | |
| Exon 10 | c.1388G>T | G463V | VUS | - | - | ||
| Exon 10 | c.1390A>C | K464Q | VUS | CF:1 | - | - | |
| Exon 10 | c.1392G>T | K464N | disease-causing | CF: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.1393-3C>A | VUS | Asymptomatic:1 | - | - | ||
| 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+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+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.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.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+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+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+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+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+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+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+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+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+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.1393-953G>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 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+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+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+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+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+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+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+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+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+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+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+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+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+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+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.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.1393-1644A>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.1393-2163A>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.1393-2896G>A | not reported | 0 | AG: 0.00 (-27) AL: 0.00 (-3) DG: 0.00 (46) DL: 0.00 (-44) | |||
| Intron 10 | c.1393-3150C>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.1393-3602G>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.1393-5301A>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) | ||
| Exon 11 | c.1397C>A | S466X(TAA) | disease-causing | - | - | ||
| Exon 11 | c.1397C>G | S466X(TAG) | disease-causing | CF:5 | - | - | |
| Exon 11 | c.1397C>T | S466L | VUS | CFTR-RD:1 | - | - | |
| Exon 11 | c.1399C>T | 1531C/T (L467F) | VUS | CF:9 CFTR-RD:5 | - | - | |
| Exon 11 | c.1405A>G | M469V | disease-causing | CFTR-RD:5 | - | - | |
| Exon 11 | c.1408A>G | M470V | non disease-causing | Asymptomatic:35 CF:345 CFTR-RD:532 Fetal bowel anomalies:11 Pending:59 | - | - | |
| Exon 11 | c.1408G>A | V470M | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.565414 | AG: 0.00 (21) AL: 0.00 (-1) DG: 0.00 (30) DL: 0.00 (-1) | |
| Exon 11 | c.1420G>A | E474K | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 11 | c.1429C>T | P477S | VUS | CFTR-RD:1 | - | - | |
| Exon 11 | c.1438G>A | G480S | VUS | Pending:1 | - | - | |
| Exon 11 | c.1438G>T | G480C | VUS | - | - | ||
| Exon 11 | c.1439G>A | G480D | VUS | Suspicion of CF:1 | CFTR-RD:1 | - | AG: 0.00 (-46) AL: 0.09 (41) DG: 0.00 (4) DL: 0.00 (-1) |
| Exon 11 | c.1453A>T | S485C | VUS | CFTR-RD:1 | - | - | |
| Exon 11 | c.1466C>A | S489X | disease-causing | CF:3 CFTR-RD:1 | - | - | |
| Exon 11 | c.1466C>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 11 | c.1471T>C | C491R | disease-causing | CF:3 CFTR-RD:1 Pending:1 | - | - | |
| Exon 11 | c.1475C>T | S492F | disease-causing | CF:6 CFTR-RD:1 | - | - | |
| Exon 11 | c.1477C>T | Q493X | disease-causing | CF:9 CFTR-RD:3 | - | - | |
| Exon 11 | c.1494G>C | M498I | VUS | CF:1 | - | - | |
| Exon 11 | c.1495C>T | VUS | CFTR-RD:2 | - | - | ||
| Exon 11 | c.1499G>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 11 | c.1501A>G | T501A | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 11 | c.1505T>C | I502T | disease-causing | - | - | ||
| Exon 11 | c.1516A>C | I506L | VUS | CFTR-RD:1 Pending:1 | - | - | |
| Exon 11 | c.1516A>G | I506V (1648A/G) | VUS | CF:1 CFTR-RD:3 Pending:1 | - | - | |
| Exon 11 | c.1517T>C | I506T | disease-causing | CF:1 | Asymptomatic:1 CF:6 CFTR-RD:1 Fetal bowel anomalies:1 | - | AG: 0.01 (-37) AL: 0.01 (31) DG: 0.00 (-37) DL: 0.00 (-4) |
| Exon 11 | c.1518C>G | 1650C/G | VUS | CF:1 | - | - | |
| Exon 11 | c.1523T>G | F508C | disease-causing | CF:1 | Asymptomatic:2 CF:8 CFTR-RD:33 Pending:1 | 0.000879 | AG: 0.03 (-43) AL: 0.01 (25) DG: 0.00 (-44) DL: 0.00 (-43) |
| Exon 11 | c.1538A>G | D513G | disease-causing | CFTR-RD:1 Pending:1 | - | - | |
| Exon 11 | c.1555A>G | S519G | VUS | CF:2 | - | - | |
| Exon 11 | c.1558G>A | V520I | VUS | Asymptomatic:1 | - | - | |
| Exon 11 | c.1558G>T | V520F | disease-causing | CF:1 | - | - | |
| Exon 11 | c.1562T>G | VUS | CF:1 | - | - | ||
| Exon 11 | c.1568C>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 11 | c.1573C>A | VUS | - | - | |||
| Exon 11 | c.1573C>T | Q525X | disease-causing | CF:1 | - | - | |
| Exon 11 | c.1580A>G | E527G | VUS | CFTR-RD:1 | - | - | |
| Exon 11 | c.1581A>G | E527E (1713A/G) | VUS | CF:1 CFTR-RD:1 | - | - | |
| Exon 11 | c.1583A>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 11 | c.1584G>A | E528E (1716G/A) | non disease-causing | Asymptomatic:2 CFTR-RD:1 Suspicion of CF:3 | Asymptomatic:1 CF:5 CFTR-RD:47 Fetal bowel anomalies:2 Pending:3 | 0.017193 | AG: 0.00 (0) AL: 0.01 (-36) DG: 0.00 (12) DL: 0.04 (0) |
| 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.1585-3T>C | VUS | Asymptomatic:2 Pending:1 | - | - | ||
| Intron 11 | c.1585-8G>A | 1717-8G>A | disease-causing | CF:5 | - | - | |
| Intron 11 | c.1584+12T>C | 1716+12T/C | VUS | CF:2 | - | - | |
| Intron 11 | c.1584+64T>C | VUS | Asymptomatic:1 | - | - | ||
| Intron 11 | c.1584+77A>G | 1716+ 77A/G | VUS | Pending:1 | - | - | |
| Intron 11 | c.1585-84A>C | VUS | CFTR-RD:1 | - | - | ||
| 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+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+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.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.1585-889G>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.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+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+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+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+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+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+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+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+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+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+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.1585-1361A>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.1585-1522C>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.1585-2813T>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.1585-2915T>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.1585-3353G>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.1585-4029G>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.1585-4203A>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.1585-4416C>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.1585-5555A>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.1585-6356C>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.1585-7958C>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.1585-8364A>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.1585-9049G>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.1585-9212G>A | VUS | CF:1 | - | - | ||
| 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.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.1585-9395C>G | VUS | CFTR-RD:1 | - | - | ||
| 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.1585-9418T>C | VUS | CFTR-RD:1 | - | - | ||
| Intron 11 | c.1585-9449C>A | VUS | Asymptomatic:2 CFTR-RD:2 | - | - | ||
| 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 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+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+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+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.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.1585-11125T>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.1585-12202G>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.1585-13322T>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.1585-13644G>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) | ||
| Exon 12 | c.1601C>A | A534E | VUS | Asymptomatic:2 CFTR-RD:2 | - | - | |
| Exon 12 | c.1603G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 12 | c.1609G>A | D537N | disease-causing | Pending (NBS):1 | - | AG: 0.00 (-31) AL: 0.00 (-24) DG: 0.00 (-32) DL: 0.00 (42) | |
| Exon 12 | c.1616T>C | I539T | VUS | - | - | ||
| Exon 12 | c.1624G>T | G542X | disease-causing | Asymptomatic:1 CF:1 CFTR-RD:1 | Asymptomatic:1 CF:163 CFTR-RD:46 Fetal bowel anomalies:4 Pending:12 | 0.000286 | AG: 0.00 (-46) AL: 0.13 (-39) DG: 0.00 (-47) DL: 0.00 (27) |
| Exon 12 | c.1630G>A | G544S | VUS | CFTR-RD:1 | - | - | |
| Exon 12 | c.1631G>T | G544V | VUS | CFTR-RD:2 | - | - | |
| Exon 12 | c.1645A>C | S549R(A>C) | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 12 | c.1646G>A | S549N | disease-causing | CF:2 CFTR-RD:3 | - | - | |
| Exon 12 | c.1647T>G | S549R(T>G) | disease-causing | CF:4 | - | - | |
| Exon 12 | c.1651G>A | G551S | disease-causing | - | - | ||
| Exon 12 | c.1652G>A | G551D | disease-causing | Suspicion of CF:3 | Asymptomatic:3 CF:73 CFTR-RD:10 Pending:9 | 0.0003 | AG: 0.00 (-48) AL: 0.00 (27) DG: 0.01 (27) DL: 0.00 (-1) |
| Exon 12 | c.1654C>T | Q552X | disease-causing | CF:1 | - | - | |
| Exon 12 | c.1655A>C | Q552P | VUS | CF:1 Pending:1 | - | - | |
| Exon 12 | c.1657C>G | R553G | VUS | Pending:1 | - | - | |
| Exon 12 | c.1657C>T | R553X | disease-causing | Asymptomatic:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:1 | Asymptomatic:1 CF:56 CFTR-RD:19 Fetal bowel anomalies:2 Pending:3 | 0.000126 | AG: 0.00 (22) AL: 0.00 (-5) DG: 0.00 (-6) DL: 0.21 (22) |
| Exon 12 | c.1658G>A | R553Q | VUS | - | - | ||
| Exon 12 | c.1661C>A | A554E | VUS | - | - | ||
| Exon 12 | c.1666A>G | I556V | disease-causing | Asymptomatic:1 | Asymptomatic:1 CFTR-RD:2 | 0.001165 | AG: 0.00 (1) AL: 0.00 (10) DG: 0.00 (8) DL: 0.00 (13) |
| Exon 12 | c.1673T>C | L558S | disease-causing | CF:6 CFTR-RD:1 | - | - | |
| Exon 12 | c.1675G>A | A559T | disease-causing | CF:2 Pending:2 | - | - | |
| Exon 12 | c.1679G>A | R560K | disease-causing | CF:6 | - | - | |
| Intron 12 | c.1679+1G>C | 1811+1G>C | disease-causing | CF:3 | - | - | |
| Intron 12 | c.1679+9C>G | VUS | - | - | |||
| Intron 12 | c.1680-1G>A | 1812-1G>A | disease-causing | CF:4 | - | - | |
| Intron 12 | c.1679+18G>A | 1811+18G->A | VUS | - | - | ||
| Intron 12 | c.1680-99T>C | 1812- 99 T- >C | VUS | CFTR-RD:2 | - | - | |
| 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 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:77 CFTR-RD:233 Fetal bowel anomalies:2 Pending:46 | 0.551573 | AG: 0.00 (10) AL: 0.00 (-8) DG: 0.00 (-19) DL: 0.02 (-13) |
| Intron 12 | c.1680-871A>G | VUS | CFTR-RD:2 | - | - | ||
| 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.1680-981T>C | VUS | CF:1 | - | - | ||
| 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) | ||
| Exon 13 | c.1680A>C | R560S | disease-causing | CF:2 | - | - | |
| Exon 13 | c.1682C>A | A561E | disease-causing | CF:1 | - | - | |
| Exon 13 | c.1684G>A | V562I | VUS | CFTR-RD:1 | Asymptomatic:1 CF:5 CFTR-RD:33 Pending:2 | - | AG: 0.03 (-2) AL: 0.42 (1) DG: 0.00 (31) DL: 0.00 (1) |
| Exon 13 | c.1684G>C | V562L | VUS | CFTR-RD:3 | - | - | |
| Exon 13 | c.1687T>A | Y563N | disease-causing | CF:1 | - | - | |
| Exon 13 | c.1690A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 13 | c.1694A>G | D565G | disease-causing | - | - | ||
| Exon 13 | c.1695T>G | VUS | CF:1 CFTR-RD:1 | - | - | ||
| Exon 13 | c.1696G>A | A566T | VUS | Asymptomatic:1 CFTR-RD:1 Pending:1 | - | - | |
| Exon 13 | c.1704G>T | L568F | VUS | CFTR-RD:3 | - | - | |
| Exon 13 | c.1705T>C | Y569H | disease-causing | CF:2 | - | - | |
| Exon 13 | c.1705T>G | Y569D | disease-causing | CF:1 | - | - | |
| Exon 13 | c.1706A>G | Y569C | VUS | CF:1 | - | - | |
| Exon 13 | c.1707T>A | Y569X | disease-causing | CF:1 | - | - | |
| Exon 13 | c.1720C>T | P574S | VUS | CFTR-RD:2 Pending:1 | - | - | |
| Exon 13 | c.1721C>A | P574H | disease-causing | CF:1 CFTR-RD:2 Pending:1 | - | - | |
| Exon 13 | c.1721C>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 13 | c.1723T>G | F575V | VUS | CFTR-RD:1 | - | - | |
| Exon 13 | c.1724T>A | F575Y | disease-causing | CFTR-RD:1 Pending:2 | - | - | |
| Exon 13 | c.1727G>C | G576A | disease-causing | Asymptomatic:16 CF:5 CFTR-RD:93 Fetal bowel anomalies:1 Pending:8 | - | - | |
| Exon 13 | c.1730A>T | Y577F | VUS | - | - | ||
| Exon 13 | c.1731C>T | Y577Y (1863C/T) | VUS | - | - | ||
| Exon 13 | c.1736A>G | D579G | disease-causing | CFTR-RD:1 | - | - | |
| Exon 13 | c.1745C>T | T582I | disease-causing | Suspicion of CF:1 | CF:1 CFTR-RD:2 Pending:1 | 3.5e-05 | AG: 0.00 (21) AL: 0.03 (-9) DG: 0.00 (-9) DL: 0.27 (21) |
| Exon 13 | c.1753G>T | E585X | disease-causing | CF:10 CFTR-RD:1 Fetal bowel anomalies:1 Pending:2 | - | - | |
| Exon 13 | c.1759T>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 13 | c.1762G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 13 | c.1763A>T | E588V | disease-causing | - | - | ||
| Exon 13 | c.1766G>A | S589N | VUS | - | - | ||
| 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+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+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+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) | ||
| Exon 14 | c.1769G>A | VUS | Pending:1 | - | - | ||
| Exon 14 | c.1781T>C | L594P | VUS | - | - | ||
| Exon 14 | c.1783A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 14 | c.1784T>C | M595T | VUS | CF:1 | - | - | |
| Exon 14 | c.1792A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 14 | c.1792A>T | K598X | disease-causing | CF:1 | - | - | |
| Exon 14 | c.1798A>G | R600G | VUS | CF:3 | - | - | |
| Exon 14 | c.1800G>T | VUS | CF:1 | - | - | ||
| Exon 14 | c.1801A>T | I601F | disease-causing | CF:2 CFTR-RD:4 Fetal bowel anomalies:1 Pending:5 | - | - | |
| Exon 14 | c.1802T>C | VUS | CF:1 Pending:2 | - | - | ||
| Exon 14 | c.1811C>T | T604I | disease-causing | CF:2 Pending:1 | - | - | |
| Exon 14 | c.1819A>G | VUS | - | - | |||
| Exon 14 | c.1826A>G | H609R | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 14 | c.1826A>T | H609L | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.1841A>G | D614G | disease-causing | CFTR-RD:4 Pending:2 | - | - | |
| Exon 14 | c.1847T>C | VUS | - | - | |||
| Exon 14 | c.1853T>A | I618N | VUS | CF:1 | - | - | |
| Exon 14 | c.1853T>C | I618T | disease-causing | - | - | ||
| Exon 14 | c.1853T>G | I618S | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.1865G>A | G622D | disease-causing | Asymptomatic:1 CF:3 CFTR-RD:16 Fetal bowel anomalies:3 Pending:2 | - | - | |
| Exon 14 | c.1882G>A | G628R(G->A) | disease-causing | CF:1 | - | - | |
| Exon 14 | c.1882G>C | G628R(G->C) | disease-causing | - | - | ||
| Exon 14 | c.1897C>T | VUS | Asymptomatic:1 CFTR-RD:1 | - | - | ||
| Exon 14 | c.1900C>T | Q634X | disease-causing | - | - | ||
| Exon 14 | c.1920T>C | F640F (2052T/C) | VUS | CF:1 Pending:1 | - | - | |
| Exon 14 | c.1966G>T | E656X | disease-causing | CF:2 | - | - | |
| Exon 14 | c.1970G>A | VUS | Asymptomatic:1 | - | - | ||
| Exon 14 | c.1990G>C | E664Q | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.1990G>T | E664X | disease-causing | CF:2 | - | - | |
| Exon 14 | c.2002C>T | R668C | disease-causing | Suspicion of CF:1 | Asymptomatic:17 CF:7 CFTR-RD:96 Fetal bowel anomalies:1 Pending:7 | 0.006121 | AG: 0.24 (13) AL: 0.22 (-40) DG: 0.00 (13) DL: 0.00 (-40) |
| Exon 14 | c.2017G>T | G673X | disease-causing | CF:2 | - | - | |
| Exon 14 | c.2052A>G | not reported | Suspicion of CF:2 | 3.5e-05 | AG: 0.10 (-37) AL: 0.03 (16) DG: 0.00 (-37) DL: 0.00 (16) | ||
| Exon 14 | c.2057C>A | S686Y | VUS | Asymptomatic:2 CFTR-RD:1 | - | - | |
| Exon 14 | c.2065C>T | Q689X | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2074G>C | E692Q | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2096A>G | VUS | Asymptomatic:1 | - | - | ||
| Exon 14 | c.2125C>T | R709X | disease-causing | CF:6 CFTR-RD:3 | - | - | |
| Exon 14 | c.2128A>T | K710X | disease-causing | Asymptomatic:1 CF:11 CFTR-RD:2 | - | - | |
| Exon 14 | c.2145A>C | Q715H | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2168G>T | G723V | VUS | Asymptomatic:1 | - | - | |
| Exon 14 | c.2173G>A | E725K | VUS | Asymptomatic:1 CF:1 CFTR-RD:1 Pending:1 | - | - | |
| Exon 14 | c.2179G>T | D727Y | not reported | Pending (NBS):1 | - | AG: 0.00 (19) AL: 0.01 (-30) DG: 0.00 (-2) DL: 0.00 (-30) | |
| Exon 14 | c.2192C>T | VUS | - | - | |||
| Exon 14 | c.2195T>G | L732X | disease-causing | CF:3 CFTR-RD:1 | - | - | |
| Exon 14 | c.2210C>T | S737F | VUS | Pending (NBS):1 | Pending:2 | 1.4e-05 | AG: 0.00 (6) AL: 0.00 (-12) DG: 0.00 (23) DL: 0.00 (-7) |
| Exon 14 | c.2233G>T | G745X(Gly745X) | disease-causing | CF:3 | - | - | |
| Exon 14 | c.2245C>T | L749L (2377C/T) | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2249C>T | P750L | disease-causing | Asymptomatic:1 CFTR-RD:7 | - | - | |
| Exon 14 | c.2252G>T | R751L | VUS | - | - | ||
| Exon 14 | c.2259C>T | S753S (2391C/T) | VUS | CF:1 | - | - | |
| Exon 14 | c.2260G>A | V754M | non disease-causing | Asymptomatic:2 CF:3 CFTR-RD:9 Pending:1 | - | - | |
| Exon 14 | c.2290C>T | R764X | disease-causing | CF:6 CFTR-RD:3 | - | - | |
| Exon 14 | c.2295G>T | VUS | Asymptomatic:1 Pending:1 | - | - | ||
| Exon 14 | c.2297G>A | R766K | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2299C>T | Q767X | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2327C>G | S776X | disease-causing | Suspicion of CF:1 | CF:1 | - | AG: 0.02 (-40) AL: 0.00 (3) DG: 0.00 (1) DL: 0.00 (11) |
| Exon 14 | c.2335C>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 14 | c.2353C>T | R785X | disease-causing | CF:4 CFTR-RD:1 | - | - | |
| Exon 14 | c.2374C>G | R792G | VUS | - | - | ||
| Exon 14 | c.2374C>T | R792X | disease-causing | CF:10 Fetal bowel anomalies:1 | - | - | |
| Exon 14 | c.2378A>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 14 | c.2395C>A | Q799K | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2417A>G | D806G | VUS | CFTR-RD:2 | - | - | |
| Exon 14 | c.2421A>G | I807M ; 2553A/G | disease-causing | Asymptomatic:2 CFTR-RD:7 | - | - | |
| Exon 14 | c.2428A>G | R810G | VUS | CFTR-RD:2 Pending:1 | - | - | |
| Exon 14 | c.2450G>T | VUS | - | - | |||
| Exon 14 | c.2464G>A | E822K | VUS | - | - | ||
| Exon 14 | c.2464G>T | E822X | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2476G>A | E826K | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2479G>T | E827X | disease-causing | CF:3 | - | - | |
| Exon 14 | c.2483A>G | D828G | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2488A>T | K830X | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| 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+5G>T | VUS | - | - | |||
| Intron 14 | c.2491-51T>C | 2623-51T>C | VUS | Pending:1 | - | - | |
| 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.2491-92T>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 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.2491-784C>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.2490+1034G>A | not reported | Asymptomatic:1 | - | AG: 0.01 (-50) AL: 0.00 (0) DG: 0.00 (47) DL: 0.00 (-1) | ||
| Exon 15 | c.2491G>T | E831X | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 15 | c.2496C>A | C832X | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 15 | c.2502T>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 15 | c.2506G>T | D836Y | VUS | Asymptomatic:2 CFTR-RD:2 | - | - | |
| Exon 15 | c.2522C>G | P841R | VUS | CFTR-RD:1 | - | - | |
| Exon 15 | c.2537G>A | W846X | disease-causing | CF:1 Pending:1 | - | - | |
| Exon 15 | c.2538G>A | W846X (2670TGG>TGA) | disease-causing | CF:26 CFTR-RD:3 Pending:3 | - | - | |
| Exon 15 | c.2540A>G | VUS | - | - | |||
| Exon 15 | c.2547C>A | Y849X | disease-causing | - | - | ||
| Exon 15 | c.2551C>T | R851X | disease-causing | CF:2 CFTR-RD:2 | - | - | |
| Exon 15 | c.2552G>T | R851L | VUS | CF:1 CFTR-RD:2 | - | - | |
| Exon 15 | c.2556T>G | Y852X | disease-causing | - | - | ||
| Exon 15 | c.2559T>C | I853I (2691T/C) | VUS | CFTR-RD:1 | - | - | |
| Exon 15 | c.2562T>C | T854T (2694T/C) | VUS | CFTR-RD:2 | - | - | |
| Exon 15 | c.2562T>G | T854T (2694T/G) | non disease-causing | Asymptomatic:13 CF:5 CFTR-RD:12 Infertility:1 Pending (NBS):11 Suspicion of CF:24 | Asymptomatic:30 CF:234 CFTR-RD:445 Fetal bowel anomalies:4 Pending:64 | 0.429695 | AG: 0.00 (0) AL: 0.00 (10) DG: 0.00 (0) DL: 0.00 (-8) |
| Exon 15 | c.2563G>A | V855I | VUS | CFTR-RD:1 | - | - | |
| Exon 15 | c.2596T>C | C866R | VUS | CFTR-RD:1 | - | - | |
| Exon 15 | c.2597G>A | C866Y | VUS | - | - | ||
| Exon 15 | c.2598C>G | C866W | VUS | CFTR-RD:1 | - | - | |
| Exon 15 | c.2600T>A | L867X | disease-causing | - | - | ||
| Exon 15 | c.2604A>G | V868V (2736G/A) | VUS | CF:2 CFTR-RD:1 | - | - | |
| Intron 15 | c.2619+3A>G | 2751+3A>G | VUS | CFTR-RD:1 | - | - | |
| Intron 15 | c.2620-6T>C | 2752-6T->C | non disease-causing | 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.2620-26A>G | 2752-26A>G | non disease-causing | Asymptomatic:3 CFTR-RD: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+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.2620-180G>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.2620-367A>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.2620-900T>A | not reported | CF:1 | 0.001081 | AG: 0.00 (-3) AL: 0.00 (-24) DG: 0.00 (-3) DL: 0.00 (39) | ||
| Intron 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+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+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+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.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.2620-1372A>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.2620-1849C>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.2620-3342A>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) | ||
| Exon 16 | c.2645G>A | W882X | disease-causing | CF: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.2658-2A>G | 2790-2A>G | VUS | Asymptomatic:1 Pending: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.2658-77T>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) | ||
| Exon 17 | c.2668C>T | Q890X | disease-causing | CF:2 | - | - | |
| Exon 17 | c.2669A>G | Q890R | VUS | Asymptomatic:1 | - | - | |
| Exon 17 | c.2672A>G | D891G | VUS | CFTR-RD:1 | - | - | |
| Exon 17 | c.2679G>T | G893G (2811G/T) | VUS | - | - | ||
| Exon 17 | c.2695A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 17 | c.2699A>C | N900T | VUS | Asymptomatic:1 | - | - | |
| Exon 17 | c.2706C>G | S902R | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 17 | c.2719A>G | 2851A/G | VUS | Asymptomatic:1 CFTR-RD:1 | - | - | |
| Exon 17 | c.2723C>A | T908N | disease-causing | CFTR-RD:2 | - | - | |
| Exon 17 | c.2735C>A | S912X | disease-causing | CF:1 | - | - | |
| Exon 17 | c.2735C>G | S912W | VUS | CFTR-RD:1 | - | - | |
| Exon 17 | c.2735C>T | S912L | VUS | Asymptomatic:1 CF:1 CFTR-RD:2 Fetal bowel anomalies:1 | - | - | |
| Exon 17 | c.2739T>A | Y913X | disease-causing | CFTR-RD:1 | - | - | |
| Exon 17 | c.2743G>C | V915L | VUS | Asymptomatic:2 | - | - | |
| Exon 17 | c.2754T>G | I918M | VUS | CFTR-RD:1 | - | - | |
| Exon 17 | c.2756A>G | Y919C | VUS | Asymptomatic:2 Pending:1 | - | - | |
| Exon 17 | c.2758G>A | V920M | VUS | CF:2 CFTR-RD:5 Pending:1 | - | - | |
| Exon 17 | c.2758G>T | V920L | VUS | CFTR-RD:2 | - | - | |
| Exon 17 | c.2770G>A | D924N | VUS | CF:1 CFTR-RD:2 Pending:1 | - | - | |
| Exon 17 | c.2770G>C | VUS | Pending:1 | - | - | ||
| Exon 17 | c.2780T>C | L927P | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 17 | c.2797A>G | R933G | disease-causing | CF:2 CFTR-RD:3 Pending:1 | - | - | |
| Exon 17 | c.2813T>G | V938G | disease-causing | CFTR-RD:8 | - | - | |
| Exon 17 | c.2816A>G | H939R | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 17 | c.2834C>T | S945L | disease-causing | CF:15 CFTR-RD:9 Pending:3 | - | - | |
| Exon 17 | c.2846A>G | H949R | VUS | CFTR-RD:1 | - | - | |
| Exon 17 | c.2846A>T | H949L | VUS | CFTR-RD:2 | - | - | |
| Exon 17 | c.2851A>G | VUS | Fetal bowel anomalies:1 | - | - | ||
| Exon 17 | c.2855T>C | M952T | VUS | CFTR-RD:1 Pending (NBS):1 | Asymptomatic:1 CFTR-RD:2 Pending:1 | 0.000181 | AG: 0.00 (-24) AL: 0.00 (21) DG: 0.00 (49) DL: 0.00 (-44) |
| Exon 17 | c.2856G>C | M952I | disease-causing | CFTR-RD:11 | - | - | |
| Exon 17 | c.2876C>T | A959V | VUS | - | - | ||
| Exon 17 | c.2898G>A | T966T (3030G/A) | non disease-causing | Suspicion of CF:1 | Asymptomatic:1 CF:3 CFTR-RD:8 Fetal bowel anomalies:2 Pending:1 | 0.008893 | AG: 0.00 (11) AL: 0.00 (-22) DG: 0.00 (6) DL: 0.01 (10) |
| Exon 17 | c.2900T>C | L967S | VUS | Asymptomatic:3 CF:3 CFTR-RD:4 Fetal bowel anomalies:1 Pending:6 | - | - | |
| Exon 17 | c.2908G>C | G970R | disease-causing | CF:4 CFTR-RD:1 | - | - | |
| Intron 17 | c.2908+1G>A | disease-causing | CF:2 | - | - | ||
| Intron 17 | c.2908+4C>A | VUS | CFTR-RD:1 | - | - | ||
| Intron 17 | c.2908+19G>A | VUS | CFTR-RD:1 | - | - | ||
| Intron 17 | c.2909-15T>C | VUS | CFTR-RD:1 | - | - | ||
| Intron 17 | c.2909-15T>G | 3041-15T>G | disease-causing | CF:1 CFTR-RD:1 Pending:1 | - | - | |
| Intron 17 | c.2909-36T>G | VUS | Asymptomatic:1 | - | - | ||
| 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:31 CFTR-RD:120 Pending:21 | 0.162344 | AG: 0.00 (22) AL: 0.00 (-11) DG: 0.00 (-7) DL: 0.00 (-5) |
| 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+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.2909-746A>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) | ||
| Exon 18 | c.2909G>A | G970D | VUS | CF:2 | - | - | |
| Exon 18 | c.2909G>T | VUS | Pending:1 | - | - | ||
| Exon 18 | c.2930C>T | S977F | disease-causing | Asymptomatic:1 CF:4 CFTR-RD:10 Pending:3 | - | - | |
| Exon 18 | c.2936A>C | D979A | VUS | CFTR-RD:1 | - | - | |
| Exon 18 | c.2936A>T | D979V | disease-causing | CF:1 | - | - | |
| Exon 18 | c.2939T>A | I980K | disease-causing | Asymptomatic:1 CFTR-RD:9 | - | - | |
| Exon 18 | c.2940A>G | I980M | VUS | CFTR-RD:1 | - | - | |
| Exon 18 | c.2946T>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 18 | c.2953G>C | D985H | VUS | CF:1 | - | - | |
| Exon 18 | c.2953G>T | D985Y | VUS | CF:1 | - | - | |
| Exon 18 | c.2957T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 18 | c.2973A>G | I991M | VUS | CFTR-RD:1 | - | - | |
| Exon 18 | c.2977G>T | D993Y | disease-causing | CF:7 | - | - | |
| Exon 18 | c.2978A>G | D993G | VUS | - | - | ||
| Exon 18 | c.2981T>G | F994C | VUS | CFTR-RD:1 | - | - | |
| Exon 18 | c.2987A>T | VUS | - | - | |||
| Exon 18 | c.2988G>A | Q996Q (3120G/A) | 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.2989-3C>G | 3121-3C>G | VUS | CF:1 | - | - | |
| Intron 18 | c.2989-35G>A | VUS | CF:1 | - | - | ||
| Intron 18 | c.2989-69C>G | VUS | Pending:1 | - | - | ||
| 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.2989-303T>C | VUS | - | - | |||
| 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.2989-357C>T | VUS | Pending: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.2989-731T>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.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+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.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) | ||
| Exon 19 | c.2991G>C | L997F | disease-causing | CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | Asymptomatic:8 CF:2 CFTR-RD:88 Fetal bowel anomalies:1 Pending:8 | 0.002068 | AG: 0.00 (26) AL: 0.00 (-2) DG: 0.00 (9) DL: 0.00 (26) |
| Exon 19 | c.3014T>G | I1005R | VUS | CF:2 | - | - | |
| Exon 19 | c.3017C>A | A1006E | disease-causing | CF:1 | - | - | |
| Exon 19 | c.3038C>A | P1013H | VUS | CFTR-RD:3 Pending:1 | - | - | |
| Exon 19 | c.3038C>T | P1013L | VUS | CFTR-RD:1 | - | - | |
| Exon 19 | c.3041A>G | Y1014C | VUS | CFTR-RD:1 Pending:1 | - | - | |
| Exon 19 | c.3047T>C | F1016S | disease-causing | - | - | ||
| Exon 19 | c.3059T>A | V1020E | VUS | CF:1 | - | - | |
| Exon 19 | c.3080T>C | I1027T | VUS | Suspicion of CF:1 | CF:24 CFTR-RD:22 Pending:2 | 0.00037 | AG: 0.04 (-21) AL: 0.00 (35) DG: 0.00 (-21) DL: 0.00 (-17) |
| Exon 19 | c.3083T>G | M1028R | VUS | CFTR-RD:4 | - | - | |
| Exon 19 | c.3095A>G | Y1032C | disease-causing | Asymptomatic:1 CFTR-RD:5 Pending:1 | - | - | |
| Exon 19 | c.3107C>A | T1036N | disease-causing | - | - | ||
| Exon 19 | c.3124C>T | Q1042X | disease-causing | CF:1 Fetal bowel anomalies:1 | - | - | |
| Exon 19 | c.3131A>G | VUS | CF:1 | - | - | ||
| Intron 19 | c.3139+1G>A | 3271+1G>A | disease-causing | CF:4 | - | - | |
| Intron 19 | c.3139+16T>A | VUS | CFTR-RD: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.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.3140-26A>G | 3272-26A>G | disease-causing | Asymptomatic:2 CF:30 CFTR-RD:17 Pending:8 | - | - | |
| Intron 19 | c.3140-33A>G | 3272-33A/G | VUS | CFTR-RD:1 | - | - | |
| 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+101C>G | 3271+101C/G | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3148C>G | P1050A | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3151A>G | I1051V | VUS | Asymptomatic:1 | - | - | |
| Exon 20 | c.3154T>G | F1052V | disease-causing | Pending (NBS):1 | Asymptomatic:3 CFTR-RD:5 Pending:2 | 0.000384 | AG: 0.04 (-10) AL: 0.05 (20) DG: 0.00 (-1) DL: 0.00 (-14) |
| Exon 20 | c.3158C>T | T1053I | VUS | - | - | ||
| Exon 20 | c.3160C>G | H1054D | disease-causing | CF:11 CFTR-RD:2 Pending:1 | - | - | |
| Exon 20 | c.3160C>T | VUS | CFTR-RD:3 | - | - | ||
| Exon 20 | c.3170C>G | VUS | CF:1 CFTR-RD:3 | - | - | ||
| Exon 20 | c.3179A>C | K1060T | VUS | - | - | ||
| Exon 20 | c.3181G>A | VUS | - | - | |||
| Exon 20 | c.3181G>C | G1061R | disease-causing | CF:4 Pending:1 | - | - | |
| Exon 20 | c.3189G>A | W1063X | disease-causing | CF:3 | - | - | |
| Exon 20 | c.3194T>C | L1065P | disease-causing | CF:4 | - | - | |
| Exon 20 | c.3196C>T | R1066C | disease-causing | CF:15 CFTR-RD:4 Pending:1 | - | - | |
| Exon 20 | c.3197G>A | R1066H | disease-causing | CF:5 | - | - | |
| Exon 20 | c.3197G>C | R1066P | disease-causing | CF:1 | - | - | |
| Exon 20 | c.3197G>T | R1066L | disease-causing | CF:2 | - | - | |
| Exon 20 | c.3199G>A | A1067T | VUS | CFTR-RD:2 Fetal bowel anomalies:1 | - | - | |
| Exon 20 | c.3200C>T | A1067V | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3205G>A | G1069R | disease-causing | CFTR-RD:9 | - | - | |
| Exon 20 | c.3208C>T | R1070W | disease-causing | Asymptomatic:1 CF:4 CFTR-RD:13 Pending:2 | - | - | |
| Exon 20 | c.3209G>A | R1070Q | disease-causing | CF:2 | - | - | |
| Exon 20 | c.3211C>T | Q1071X | disease-causing | CFTR-RD:1 | - | - | |
| Exon 20 | c.3222T>A | F1074L | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3230T>C | L1077P | disease-causing | CF:2 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 20 | c.3233T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 20 | c.3238A>C | K1080Q | VUS | - | - | ||
| Exon 20 | c.3241G>C | A1081P | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3254A>C | H1085P | VUS | - | - | ||
| Exon 20 | c.3254A>G | H1085R | disease-causing | CF:3 | - | - | |
| Exon 20 | c.3256A>G | T1086A | VUS | Asymptomatic:1 | - | - | |
| Exon 20 | c.3257C>T | T1086I | VUS | CF:1 | - | - | |
| Exon 20 | c.3262A>G | N1088D | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3266G>A | W1089X | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 20 | c.3274T>C | Y1092H | VUS | CF:2 CFTR-RD:1 | - | - | |
| Exon 20 | c.3276C>A | Y1092X(C>A) | disease-causing | CF:22 CFTR-RD:8 | - | - | |
| Exon 20 | c.3276C>G | Y1092X(C>G) | disease-causing | - | - | ||
| Exon 20 | c.3285A>T | T1095T (3417A/T) | VUS | Asymptomatic:1 CF:3 CFTR-RD:4 Pending:1 | - | - | |
| Exon 20 | c.3288G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 20 | c.3290G>A | R1097H | VUS | Asymptomatic:1 | - | - | |
| Exon 20 | c.3292T>C | W1098R | disease-causing | CF:1 | - | - | |
| Exon 20 | c.3293G>A | W1098X(TAG) | disease-causing | - | - | ||
| Exon 20 | c.3294G>A | W1098X(TGA) | disease-causing | CF:2 | - | - | |
| Exon 20 | c.3294G>C | disease-causing | Pending (NBS):1 | Pending:1 | - | AG: 0.00 (17) AL: 0.00 (-1) DG: 0.00 (45) DL: 0.00 (-1) | |
| Exon 20 | c.3297C>A | F1099L | disease-causing | CFTR-RD:1 | - | - | |
| Exon 20 | c.3299A>C | Q1100P | VUS | - | - | ||
| Exon 20 | c.3302T>A | M1101K | disease-causing | CF:5 | - | - | |
| Exon 20 | c.3302T>G | M1101R | disease-causing | - | - | ||
| Exon 20 | c.3304A>T | R1102X | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 20 | c.3310G>T | E1104X | disease-causing | CF:11 CFTR-RD:1 | - | - | |
| Exon 20 | c.3322G>C | V1108L | VUS | Asymptomatic:1 CFTR-RD:2 | - | - | |
| Exon 20 | c.3340G>C | V1114L | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3344C>A | T1115N | not reported | 7e-06 | AG: 0.00 (24) AL: 0.00 (1) DG: 0.00 (-5) DL: 0.02 (23) | ||
| Exon 20 | c.3353C>T | S1118F | disease-causing | CFTR-RD:1 | - | - | |
| Intron 20 | c.3367+37G>A | 3499+37G/A | non disease-causing | CF:1 CFTR-RD:2 | - | - | |
| Intron 20 | c.3367+45T>C | 3499+45T/C | VUS | - | - | ||
| 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+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+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+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+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+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.3368-140A>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.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.3368-932C>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 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.3368-1285C>T | not reported | Asymptomatic:1 | - | AG: 0.00 (17) AL: 0.00 (-2) DG: 0.00 (-2) DL: 0.00 (35) | ||
| Exon 21 | c.3380G>A | G1127E | VUS | Asymptomatic:1 CFTR-RD:2 | - | - | |
| Exon 21 | c.3382A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 21 | c.3382A>T | R1128X | disease-causing | - | - | ||
| Exon 21 | c.3406G>A | A1136T | VUS | CFTR-RD:1 | - | - | |
| Exon 21 | c.3409A>G | M1137V | VUS | CFTR-RD:2 | - | - | |
| Exon 21 | c.3410T>G | M1137R | disease-causing | - | - | ||
| Exon 21 | c.3415A>G | I1139V | disease-causing | Asymptomatic:1 CFTR-RD:4 | - | - | |
| Exon 21 | c.3422G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 21 | c.3443A>G | N1148S | VUS | CF:1 | - | - | |
| Exon 21 | c.3454G>C | D1152H | disease-causing | CF:2 Suspicion of CF:1 | Asymptomatic:4 CF:31 CFTR-RD:72 Pending:9 | 0.000321 | AG: 0.00 (-47) AL: 0.00 (1) DG: 0.00 (14) DL: 0.00 (2) |
| Exon 21 | c.3458T>A | V1153E | disease-causing | Asymptomatic:1 CFTR-RD:5 Pending:1 | - | - | |
| Exon 21 | c.3460G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 21 | c.3461A>G | D1154G | disease-causing | CFTR-RD:2 | - | - | |
| Exon 21 | c.3461A>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 21 | c.3468G>A | L1156L (3600G/A) | disease-causing | CF:3 CFTR-RD:2 | - | - | |
| Intron 21 | c.3468+2T>C | 3600+2T>C | disease-causing | CFTR-RD:1 | - | - | |
| Intron 21 | c.3468+5G>A | 3600+5G>A | VUS | CF:2 | - | - | |
| Intron 21 | c.3468+51C>A | VUS | CFTR-RD:1 | - | - | ||
| Intron 21 | c.3468+70T>C | VUS | CFTR-RD: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.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.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+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+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.3469-337G>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.3469-904C>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 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+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+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+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+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+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.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.3469-1304C>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.3469-1374A>C | VUS | Asymptomatic:2 | - | - | ||
| Intron 21 | c.3469-1473A>G | VUS | CF: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.3469-3450T>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.3469-5141T>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) | ||
| Exon 22 | c.3471G>A | M1157I | VUS | CFTR-RD:1 | - | - | |
| Exon 22 | c.3472C>T | R1158X | disease-causing | CF:1 | CF:7 CFTR-RD:1 Pending:2 | 2.8e-05 | AG: 0.00 (11) AL: 0.00 (-3) DG: 0.00 (-3) DL: 0.04 (45) |
| Exon 22 | c.3473G>T | R1158L | VUS | CFTR-RD:1 | - | - | |
| Exon 22 | c.3475T>C | S1159P | disease-causing | - | - | ||
| Exon 22 | c.3476C>T | S1159F | disease-causing | Asymptomatic:1 CF:2 | - | - | |
| Exon 22 | c.3484C>T | R1162X | disease-causing | Asymptomatic:1 CF:26 CFTR-RD:4 Fetal bowel anomalies:1 Pending:2 | - | - | |
| Exon 22 | c.3485G>T | 3617G/T | disease-causing | CFTR-RD:1 Pending (NBS):1 | Asymptomatic:4 CFTR-RD:7 Pending:2 | 0.000663 | AG: 0.00 (30) AL: 0.01 (-16) DG: 0.00 (30) DL: 0.11 (32) |
| Exon 22 | c.3503A>G | D1168G | VUS | CF:1 | - | - | |
| Exon 22 | c.3562T>C | S1188P | VUS | CFTR-RD:1 | - | - | |
| Exon 22 | c.3587C>G | S1196X | disease-causing | CF:1 | - | - | |
| Exon 22 | c.3590A>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 22 | c.3611G>A | W1204X(3743G>A) | disease-causing | CF:3 Fetal bowel anomalies:1 Pending:1 | - | - | |
| Exon 22 | c.3612G>A | W1204X(3744G>A) | disease-causing | - | - | ||
| Exon 22 | c.3617C>A | S1206X(C>A) | disease-causing | CF:4 | - | - | |
| Exon 22 | c.3617C>G | S1206X | disease-causing | - | - | ||
| Exon 22 | c.3628A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 22 | c.3681A>G | L1227L (3813A/G) | VUS | CFTR-RD:1 | - | - | |
| Exon 22 | c.3689T>C | I1230T | VUS | - | - | ||
| Exon 22 | c.3700A>G | I1234V | disease-causing | CF:6 CFTR-RD:1 | - | - | |
| Exon 22 | c.3705T>G | S1235R | VUS | Asymptomatic:17 CF:5 CFTR-RD:33 Pending:1 | - | - | |
| Exon 22 | c.3712C>T | Q1238X | disease-causing | CF:1 | - | - | |
| Exon 22 | c.3713A>G | Q1238R | VUS | Fetal bowel anomalies:1 | - | - | |
| Intron 22 | c.3717+1G>A | 3849+ 1G- >A | disease-causing | CF:1 | - | - | |
| 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.3717+40A>G | 3849+40A>G | disease-causing | CF:2 CFTR-RD:5 Pending:4 | - | - | |
| Intron 22 | c.3717+45G>A | 3849+45G>A | VUS | Asymptomatic:1 CFTR-RD:4 Fetal bowel anomalies:1 | - | - | |
| Intron 22 | c.3717+68A>G | 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+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+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+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.3718-668T>A | not reported | CF:1 | - | AG: 0.00 (-10) AL: 0.00 (42) DG: 0.00 (-10) DL: 0.00 (-11) | ||
| Intron 22 | c.3718-950T>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 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+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+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+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+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+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.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.3718-1529C>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.3718-2477C>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.3718-2487A>T | VUS | CFTR-RD:1 | - | - | ||
| 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.3718-3630G>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.3718-3927G>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.3718-4566G>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.3718-5334A>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.3718-5374A>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.3718-5386A>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.3718-5884G>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.3718-6421T>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.3718-6979T>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) | ||
| Exon 23 | c.3719T>G | V1240G | disease-causing | - | - | ||
| Exon 23 | c.3731G>A | G1244E | disease-causing | Pending (NBS):1 | CF:11 CFTR-RD:4 Fetal bowel anomalies:1 Pending:2 | 7e-06 | AG: 0.01 (-13) AL: 0.00 (-41) DG: 0.00 (4) DL: 0.00 (-14) |
| Exon 23 | c.3737C>T | T1246I | disease-causing | CF:1 CFTR-RD:2 | - | - | |
| Exon 23 | c.3745G>A | G1249R | disease-causing | CF:7 CFTR-RD:1 | - | - | |
| Exon 23 | c.3746G>A | G1249E | disease-causing | CF:1 | - | - | |
| Exon 23 | c.3752G>A | S1251N | disease-causing | CF:16 CFTR-RD:2 | - | - | |
| Exon 23 | c.3754A>C | T1252P | VUS | CF:1 | - | - | |
| Exon 23 | c.3806T>A | I1269N | disease-causing | - | - | ||
| Exon 23 | c.3808G>A | D1270N | disease-causing | CFTR-RD:1 Suspicion of CF:1 | Asymptomatic:7 CF:3 CFTR-RD:47 Pending:11 | 0.004392 | AG: 0.00 (36) AL: 0.00 (-41) DG: 0.00 (3) DL: 0.00 (40) |
| Exon 23 | c.3822G>A | W1274X | disease-causing | CF:1 | - | - | |
| Exon 23 | c.3824A>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 23 | c.3837G>A | L1279L (3969G/A) | VUS | - | - | ||
| Exon 23 | c.3838C>T | Q1280X | disease-causing | CF:1 | - | - | |
| Exon 23 | c.3844T>C | W1282R | VUS | - | - | ||
| Exon 23 | c.3846G>A | W1282X | disease-causing | Asymptomatic:1 CFTR-RD:1 | Asymptomatic:1 CF:57 CFTR-RD:20 Fetal bowel anomalies:2 | 0.000335 | AG: 0.00 (27) AL: 0.00 (-2) DG: 0.00 (-35) DL: 0.01 (27) |
| Exon 23 | c.3846G>T | W1282C | VUS | CFTR-RD:1 | - | - | |
| Exon 23 | c.3848G>T | R1283M | VUS | - | - | ||
| Exon 23 | c.3849G>C | R1283S(G->C) | VUS | - | - | ||
| Exon 23 | c.3849G>T | R1283S(G->T) | VUS | - | - | ||
| Exon 23 | c.3854C>G | A1285G | VUS | CFTR-RD:1 | - | - | |
| Exon 23 | c.3854C>T | VUS | CF:1 | - | - | ||
| Exon 23 | c.3857T>C | F1286S | disease-causing | CF:2 | - | - | |
| Exon 23 | c.3868C>A | P1290T | VUS | Asymptomatic:1 | - | - | |
| Exon 23 | c.3870A>G | P1290P (4002A/G) | non disease-causing | Asymptomatic:2 CFTR-RD:2 Suspicion of CF:1 | Asymptomatic:2 CF:14 CFTR-RD:31 Pending:1 | 0.07428 | AG: 0.00 (3) AL: 0.00 (-26) DG: 0.00 (32) DL: 0.02 (3) |
| Exon 23 | c.3872A>G | Q1291R | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| 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.3874-4A>G | 4006-4A>G | VUS | CFTR-RD:2 | - | - | |
| Intron 23 | c.3874-14C>G | 4006- 14C- >G | VUS | CFTR-RD:1 | - | - | |
| Intron 23 | c.3874-71A>G | VUS | CFTR-RD:1 | - | - | ||
| Intron 23 | c.3873+112A>C | VUS | CF: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+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.3874-105T>G | non disease-causing | Asymptomatic:2 CF:3 CFTR-RD:4 Pending:3 | - | - | ||
| Intron 23 | c.3874-172C>G | VUS | - | - | |||
| 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.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.3874-510T>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 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+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+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+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+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.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.3874-2719T>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.3874-3325A>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.3874-3356T>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.3874-3524A>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.3874-3534G>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.3874-3564A>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.3874-3854C>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.3874-4522A>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.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.3874-4805C>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) | ||
| Exon 24 | c.3878T>G | V1293G | VUS | - | - | ||
| Exon 24 | c.3896C>T | T1299I | VUS | CF:1 CFTR-RD:2 | - | - | |
| Exon 24 | c.3897A>G | T1299T (4029A/G) | non disease-causing | Asymptomatic:1 CF:6 CFTR-RD:5 | - | - | |
| Exon 24 | c.3907A>C | N1303H | VUS | CF:1 | - | - | |
| Exon 24 | c.3908A>T | N1303I | disease-causing | CFTR-RD:7 Pending:4 | - | - | |
| Exon 24 | c.3909C>G | N1303K | disease-causing | Asymptomatic:3 | Asymptomatic:5 CF:121 CFTR-RD:35 Fetal bowel anomalies:5 Pending:7 | 0.000161 | AG: 0.00 (-6) AL: 0.00 (-31) DG: 0.00 (-6) DL: 0.00 (-15) |
| Exon 24 | c.3915T>A | D1305E | VUS | CFTR-RD:1 | - | - | |
| Exon 24 | c.3923A>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 24 | c.3927G>T | Q1309H | VUS | CFTR-RD:1 | - | - | |
| Exon 24 | c.3935A>G | D1312G | VUS | Asymptomatic:1 CFTR-RD:2 | - | - | |
| Exon 24 | c.3937C>A | Q1313K | VUS | CF:2 | - | - | |
| Exon 24 | c.3937C>T | Q1313X | disease-causing | CF:5 CFTR-RD:1 Pending:1 | - | - | |
| Exon 24 | c.3953T>C | V1318A | VUS | CFTR-RD:1 | - | - | |
| 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.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.3964-93T>G | VUS | CFTR-RD:1 | - | - | ||
| 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+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+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+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.3964-180T>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.3964-283T>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.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.3964-576G>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 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+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+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+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+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+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+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.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.3964-1350T>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.3964-1832A>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.3964-2756C>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.3964-3671G>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.3964-3993C>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.3964-4255A>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.3964-4554A>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.3964-4961C>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) | ||
| Exon 25 | c.3971T>C | L1324P | VUS | CF:1 Pending:1 | - | - | |
| Exon 25 | c.3983T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 25 | c.4004T>C | L1335P | disease-causing | CF:1 | - | - | |
| Exon 25 | c.4015C>T | L1339F | VUS | CFTR-RD:1 | - | - | |
| Exon 25 | c.4027G>A | VUS | - | - | |||
| Exon 25 | c.4046G>A | G1349D | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 25 | c.4051A>T | K1351X | disease-causing | CF:1 | - | - | |
| Exon 25 | c.4054C>T | Q1352X | disease-causing | CF:1 | - | - | |
| Exon 25 | c.4056G>C | Q1352H(G>C) | disease-causing | Asymptomatic:2 CFTR-RD:9 | - | - | |
| Exon 25 | c.4056G>T | Q1352H(G>T) | VUS | Asymptomatic:1 CFTR-RD:4 | - | - | |
| Exon 25 | c.4061T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 25 | c.4064G>T | VUS | Pending:1 | - | - | ||
| Exon 25 | c.4085G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 25 | c.4091C>T | A1364V | VUS | CFTR-RD:1 | - | - | |
| Exon 25 | c.4097T>A | I1366N | disease-causing | - | - | ||
| Exon 25 | c.4097T>C | I1366T | disease-causing | CFTR-RD:8 Pending:2 | - | - | |
| Exon 25 | c.4124A>C | H1375P | disease-causing | - | - | ||
| Exon 25 | c.4124A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 25 | c.4127T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 25 | c.4129G>C | D1377H | disease-causing | CFTR-RD:2 | - | - | |
| Intron 25 | c.4136+5G>A | disease-causing | 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 25 | c.4137-116G>T | VUS | - | - | |||
| Intron 25 | c.4137-136A>G | VUS | CF:1 CFTR-RD:1 | - | - | ||
| 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:23 CFTR-RD:122 Pending:18 | 0.235764 | AG: 0.00 (2) AL: 0.00 (-37) DG: 0.00 (2) DL: 0.00 (38) |
| Exon 26 | c.4139C>T | T1380I | VUS | CFTR-RD:1 | - | - | |
| Exon 26 | c.4144C>T | Q1382X | disease-causing | CF:1 | - | - | |
| Exon 26 | c.4147A>G | VUS | Asymptomatic:1 | - | - | ||
| Exon 26 | c.4168C>T | Q1390X | disease-causing | CF:1 | - | - | |
| Exon 26 | c.4186A>C | T1396P | VUS | CFTR-RD:1 | - | - | |
| Exon 26 | c.4188A>G | T1396T (4320A/G) | VUS | CF:1 | - | - | |
| Exon 26 | c.4202A>G | E1401G | VUS | CFTR-RD:1 | - | - | |
| Exon 26 | c.4220T>C | M1407T | VUS | - | - | ||
| Exon 26 | c.4224G>A | 4356G/A | VUS | CF:1 | - | - | |
| Exon 26 | c.4225G>A | E1409K | VUS | CFTR-RD:1 Pending:1 | - | - | |
| Exon 26 | c.4231C>T | Q1411X | disease-causing | CF:1 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 26 | c.4234C>T | Q1412X | disease-causing | CF:1 | - | - | |
| Intron 26 | c.4242+1G>A | 4374+1G>A | disease-causing | Asymptomatic:2 CF:3 | - | - | |
| Intron 26 | c.4243-2A>C | VUS | Pending:1 | - | - | ||
| 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+65G>A | VUS | CF:1 | - | - | ||
| 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) | ||
| 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.4243-35del | 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) | ||
| Exon 27 | c.4264C>T | R1422W | VUS | CF:1 | - | - | |
| Exon 27 | c.4272C>T | Y1424Y (4404C/T) | non disease-causing | Suspicion of CF:2 | Asymptomatic:1 CF:9 CFTR-RD:8 | 0.006527 | AG: 0.02 (-22) AL: 0.00 (-29) DG: 0.00 (-12) DL: 0.00 (-4) |
| Exon 27 | c.4275T>A | D1425E | VUS | Asymptomatic:1 | - | - | |
| Exon 27 | c.4276T>C | S1426P | disease-causing | CFTR-RD:1 | - | - | |
| Exon 27 | c.4277C>T | S1426F | VUS | CFTR-RD:1 | - | - | |
| Exon 27 | c.4297G>A | VUS | CFTR-RD:2 | - | - | ||
| Exon 27 | c.4333G>A | D1445N | VUS | CFTR-RD:4 | - | - | |
| Exon 27 | c.4357C>T | R1453W | VUS | CFTR-RD:1 | - | - | |
| Exon 27 | c.4364C>G | S1455X | disease-causing | CFTR-RD:1 | - | - | |
| Exon 27 | c.4389G>A | Q1463Q (4521G/A) | non disease-causing | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:17 | Asymptomatic:27 CF:126 CFTR-RD:308 Pending:44 | 0.234066 | AG: 0.00 (17) AL: 0.00 (1) DG: 0.00 (-23) DL: 0.00 (33) |
| Exon 27 | c.4417G>T | E1473X | VUS | CFTR-RD:1 | - | - | |
| Exon 27 | c.4426C>T | Q1476X | disease-causing | Asymptomatic:1 CF:1 CFTR-RD:10 Pending:1 | - | - | |
| Exon 27 | c.4439T>C | L1480P | VUS | CFTR-RD:1 | - | - | |
| UTR 3 | c.*1251C>T | VUS | CFTR-RD:2 | - | - | ||
| UTR 3 | c.*133T>A | VUS | CF:1 | - | - | ||
| UTR 3 | c.*2G>C | VUS | Pending:1 | - | - | ||
| UTR 3 | c.*47G>T | VUS | CFTR-RD:1 | - | - | ||
| UTR 3 | c.4442A>G | VUS | CF:1 CFTR-RD:1 | - | - |