catalog






The CFTR-NGS catalog has retrieved 1639 SUBSTITUTIONS, which are displayed below:



CFTR-NGS Variants listing:
#Exon/intron Name (HGVS) Legacy name Class in CFTR-France Report in CFTR-NGS MAF (GnomAD) Splicing prediction (SpliceAI)
UTR 5 c.-118G>A non disease-causing - -
UTR 5 c.-85C>G 48C/G non disease-causing - -
UTR 5 c.-8G>C 125G/C non disease-causingAsymptomatic:1
CF:1
CFTR-RD:1
Pending (NBS):3
Suspicion of CF:4
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 - -
UTR 5 c.-165G>A -33G>A VUS - -
UTR 5 c.-226G>T VUS - -
UTR 5 c.-234T>A -102T>A VUS - -
UTR 5 c.-274C>A VUS - -
UTR 5 c.-288G>C VUS - -
UTR 5 c.-2C>T VUS - -
UTR 5 c.-330T>G VUS - -
UTR 5 c.-34C>T 99C/T VUS - -
UTR 5 c.-461A>G -329A/G VUS - -
UTR 5 c.-4G>C 129G/C VUS - -
UTR 5 c.-730A>G VUS - -
UTR 5 c.-812T>G -741T>G VUS - -
Exon 1 c.1A>G M1V disease-causing - -
Exon 1 c.2T>A M1K disease-causing - -
Exon 1 c.2T>C M1T disease-causing - -
Exon 1 c.3G>A M1I(ATA) disease-causing - -
Exon 1 c.4C>T Q2X (together with R3W) disease-causing - -
Exon 1 c.7A>T Q2X (together with R3W) VUS - -
Exon 1 c.8G>T R3M VUS - -
Exon 1 c.11C>A S4X disease-causing - -
Exon 1 c.14C>T P5L disease-causing - -
Exon 1 c.26C>T VUS - -
Exon 1 c.31G>A 163G/A VUS - -
Exon 1 c.37T>C VUS - -
Exon 1 c.38C>T S13F disease-causing - -
Exon 1 c.40A>T K14X disease-causing - -
Exon 1 c.44T>C L15P disease-causing - -
Intron 1 c.53+1G>T 185+1G>T disease-causing - -
Intron 1 c.53+4A>T 185+4A>T VUS - -
Intron 1 c.54-13C>G 186-13C>G VUS - -
Intron 1 c.53+241A>C not reportedCF:1
- AG: 0.00 (13)
AL: 0.00 (-45)
DG: 0.01 (13)
DL: 0.00 (-7)
Intron 1 c.53+400G>A not reportedPending (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 reportedCFTR-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 reportedCFTR-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 reportedCF: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 VUSAsymptomatic:11
CF:13
CFTR-RD:10
Pending (NBS):13
Suspicion of CF:12
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 reportedAsymptomatic: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 reportedSuspicion 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 reportedPending (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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedPending (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 reportedAsymptomatic: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 reportedCF: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 reportedCFTR-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-causingCF:3
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 reportedInfertility: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 reportedPending (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 reportedCF: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 reportedCF: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 reportedInfertility:1
- AG: 0.00 (2)
AL: 0.00 (50)
DG: 0.00 (-37)
DL: 0.00 (9)
Intron 1 c.53+5420G>A not reportedCF: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 reportedCFTR-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 reportedAsymptomatic: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 reportedSuspicion 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 reportedCFTR-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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCF: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 reportedCF: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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic:1
- AG: 0.00 (-9)
AL: 0.00 (-42)
DG: 0.00 (-14)
DL: 0.00 (11)
Intron 1 c.54-3873A>G not reportedAsymptomatic:1
- AG: 0.00 (49)
AL: 0.00 (-48)
DG: 0.00 (49)
DL: 0.00 (1)
Intron 1 c.54-3874C>T not reportedAsymptomatic:1
- AG: 0.00 (3)
AL: 0.00 (-47)
DG: 0.00 (-2)
DL: 0.00 (2)
Intron 1 c.54-3936G>A not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedPending (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 reportedAsymptomatic: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 reportedCF: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 reportedSuspicion 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 reportedSuspicion 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 reportedCFTR-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 reportedAsymptomatic: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 reportedCF: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic:1
- AG: 0.00 (16)
AL: 0.00 (22)
DG: 0.00 (-6)
DL: 0.00 (22)
Intron 1 c.54-7449T>G not reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedPending (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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 - -
Exon 2 c.79G>T G27X disease-causing - -
Exon 2 c.80G>A G27E VUS - -
Exon 2 c.91C>T R31C ; 223C/T VUSCFTR-RD:1
Pending (NBS):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 - -
Exon 2 c.106G>A D36N VUS - -
Exon 2 c.122C>G P41R VUS - -
Exon 2 c.125C>T S42F VUS - -
Exon 2 c.131A>G D44G disease-causing - -
Exon 2 c.137C>A A46D disease-causing - -
Exon 2 c.137C>T A46V VUS - -
Exon 2 c.148T>C S50P disease-causing - -
Exon 2 c.154A>T K52X disease-causing - -
Exon 2 c.157T>G VUS - -
Exon 2 c.164G>A R55K VUS - -
Intron 2 c.164+1G>C 296+1G>C disease-causing - -
Intron 2 c.165-2A>C disease-causing - -
Intron 2 c.165-2A>G 297-2A>G disease-causing - -
Intron 2 c.165-3C>T 297-3C>T disease-causing - -
Intron 2 c.164+28A>G 296+ 28A- >G VUS - -
Intron 2 c.164+208T>C not reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedCFTR-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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF:1
- AG: 0.00 (-3)
AL: 0.00 (-13)
DG: 0.00 (-2)
DL: 0.00 (-1)
Intron 2 c.165-2072C>T not reportedPending (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 reportedSuspicion 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 - -
Exon 3 c.169T>G W57G disease-causing - -
Exon 3 c.170G>A W57X(TAG) disease-causing - -
Exon 3 c.171G>A W57X(TGA) disease-causing - -
Exon 3 c.173A>G D58G VUS - -
Exon 3 c.178G>A E60K disease-causing - -
Exon 3 c.178G>T E60X disease-causing - -
Exon 3 c.200C>T P67L disease-causing - -
Exon 3 c.202A>G K68E VUS - -
Exon 3 c.215C>A A72D VUS - -
Exon 3 c.220C>T R74W disease-causingCFTR-RD:1
Suspicion of CF:1
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 - -
Exon 3 c.223C>T R75X disease-causing - -
Exon 3 c.224G>A R75Q non disease-causingCFTR-RD:1
Pending (NBS):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 - -
Exon 3 c.228T>G VUS - -
Exon 3 c.235T>C W79R VUS - -
Exon 3 c.236G>A W79X disease-causing - -
Exon 3 c.244A>G M82V VUS - -
Exon 3 c.250T>C Y84H VUS - -
Exon 3 c.254G>A G85E disease-causingCF: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 - -
Exon 3 c.258C>G I86M VUS - -
Exon 3 c.259T>C F87L VUS - -
Exon 3 c.263T>G L88X disease-causing - -
Exon 3 c.266A>G Y89C VUS - -
Exon 3 c.271G>A G91R disease-causing - -
Intron 3 c.273+1G>A 405+1G>A disease-causing - -
Intron 3 c.273+4A>G 405+ 4A- >G VUS - -
Intron 3 c.274-1G>C 406-1G>C disease-causing - -
Intron 3 c.274-1G>T 406-1G>T disease-causing - -
Intron 3 c.274-2A>G 406- 2A- >G disease-causing - -
Intron 3 c.274-6T>C 406-6T>C VUS - -
Intron 3 c.273+27A>G VUS - -
Intron 3 c.273+46T>G 405+46G/T non disease-causing - -
Intron 3 c.273+86T>G not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedPending (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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedCFTR-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 reportedCFTR-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 reportedInfertility: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic:1
- AG: 0.00 (2)
AL: 0.00 (6)
DG: 0.00 (-39)
DL: 0.00 (0)
Intron 3 c.273+6381G>A not reportedSuspicion 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 reportedCFTR-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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic:1
- AG: 0.00 (-27)
AL: 0.00 (-43)
DG: 0.00 (30)
DL: 0.00 (-45)
Intron 3 c.273+7727T>G not reportedAsymptomatic: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 reportedCF: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 reportedSuspicion 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 reportedAsymptomatic:1
- AG: 0.00 (9)
AL: 0.00 (47)
DG: 0.00 (9)
DL: 0.00 (-37)
Intron 3 c.273+9019G>C not reportedInfertility: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedCF: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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedInfertility: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 reportedAsymptomatic: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 reportedAsymptomatic:1
- AG: 0.00 (-5)
AL: 0.00 (47)
DG: 0.00 (17)
DL: 0.00 (0)
Intron 3 c.274-8813T>C not reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedSuspicion 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 reportedCF: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 reportedAsymptomatic: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 - -
Exon 4 c.274G>T E92X disease-causing - -
Exon 4 c.278T>G VUS - -
Exon 4 c.283A>G VUS - -
Exon 4 c.287C>A A96E VUS - -
Exon 4 c.293A>G Q98R disease-causing - -
Exon 4 c.296C>G P99R disease-causing - -
Exon 4 c.296C>T P99L disease-causing - -
Exon 4 c.298C>G VUS - -
Exon 4 c.302T>C L101S VUS - -
Exon 4 c.305T>C L102P VUS - -
Exon 4 c.314T>A I105N VUS - -
Exon 4 c.323C>T S108F disease-causing - -
Exon 4 c.325T>A Y109N VUS - -
Exon 4 c.326A>G Y109C VUS - -
Exon 4 c.327T>A Y109X disease-causing - -
Exon 4 c.328G>C D110H disease-causing - -
Exon 4 c.330C>A D110E disease-causing - -
Exon 4 c.331C>G P111A disease-causing - -
Exon 4 c.332C>T P111L disease-causing - -
Exon 4 c.334G>A VUS - -
Exon 4 c.346G>A E116K disease-causing - -
Exon 4 c.349C>G R117G disease-causing - -
Exon 4 c.349C>T R117C disease-causing - -
Exon 4 c.350G>A R117H disease-causingCF:1
CFTR-RD:1
Pending (NBS):1
Suspicion of CF:2
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 - -
Exon 4 c.350G>T R117L disease-causing - -
Exon 4 c.355A>G I119V VUS - -
Exon 4 c.357C>G I119M VUS - -
Exon 4 c.357C>T VUS - -
Exon 4 c.358G>A A120T VUS - -
Exon 4 c.359C>T A120V VUS - -
Exon 4 c.360G>A A120A (492G/A) VUS - -
Exon 4 c.365A>G Y122C VUS - -
Exon 4 c.366T>A Y122X disease-causing - -
Exon 4 c.377G>A G126D disease-causing - -
Exon 4 c.410T>G L137R VUS - -
Exon 4 c.415C>T VUS - -
Exon 4 c.416A>G H139R disease-causing - -
Exon 4 c.422C>A A141D VUS - -
Exon 4 c.433C>G VUS - -
Exon 4 c.437A>G H146R VUS - -
Exon 4 c.443T>C I148T non disease-causing - -
Exon 4 c.445G>A G149R disease-causing - -
Exon 4 c.451C>A Q151K VUS - -
Exon 4 c.454A>G M152V disease-causing - -
Exon 4 c.454A>T M152L VUS - -
Exon 4 c.472A>C S158R VUS - -
Exon 4 c.472A>G VUS - -
Exon 4 c.473G>A S158N VUS - -
Exon 4 c.473G>C S158T VUS - -
Exon 4 c.476T>C L159S VUS - -
Exon 4 c.481T>A Y161N VUS - -
Exon 4 c.481T>G Y161D disease-causing - -
Exon 4 c.482A>C Y161S VUS - -
Exon 4 c.487A>C VUS - -
Intron 4 c.489+1G>T 621+1G>T disease-causing - -
Intron 4 c.489+2T>C 621+2T>C disease-causing - -
Intron 4 c.489+2T>G 621+2T>G disease-causing - -
Intron 4 c.489+3A>G 621+3A>G disease-causing - -
Intron 4 c.490-3T>G disease-causing - -
Intron 4 c.489+33T>C VUS - -
Intron 4 c.489+76T>C VUS - -
Intron 4 c.489+91A>G not reportedCF: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 reportedAsymptomatic: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 reportedSuspicion 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 - -
Intron 4 c.490-263T>C not reportedSuspicion 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 reportedAsymptomatic: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 reportedCF:1
- AG: 0.00 (-39)
AL: 0.00 (11)
DG: 0.00 (17)
DL: 0.00 (-40)
Intron 4 c.490-875T>G not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 - -
Exon 5 c.494T>C L165S disease-causing - -
Exon 5 c.500T>G VUS - -
Exon 5 c.508C>T R170C VUS - -
Exon 5 c.509G>A R170H disease-causing - -
Exon 5 c.523A>G I175V disease-causing - -
Exon 5 c.527G>T VUS - -
Exon 5 c.532G>A G178R disease-causing - -
Exon 5 c.533G>A G178E VUS - -
Exon 5 c.535C>A Q179K VUS - -
Exon 5 c.544A>C VUS - -
Exon 5 c.547C>A L183I VUS - -
Exon 5 c.558C>A N186K VUS - -
Exon 5 c.571T>G disease-causing - -
Exon 5 c.574G>A D192N VUS - -
Exon 5 c.575A>G D192G disease-causing - -
Exon 5 c.577G>A E193K disease-causing - -
Exon 5 c.577G>T E193X disease-causing - -
Intron 5 c.579+1G>T 711+1G>T disease-causing - -
Intron 5 c.579+3A>G 711+3A>G disease-causing - -
Intron 5 c.579+5G>A 711+ 5G- >A disease-causing - -
Intron 5 c.580-1G>T 712-1G>T disease-causing - -
Intron 5 c.580-62T>G VUS - -
Intron 5 c.580-90C>T VUS - -
Intron 5 c.580-92T>A 712-92T/A VUS - -
Intron 5 c.579+372T>C not reportedPending (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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 - -
Exon 6 c.595C>T H199Y disease-causing - -
Exon 6 c.596A>G H199R disease-causing - -
Exon 6 c.598T>A F200I disease-causing - -
Exon 6 c.601G>A V201M disease-causingCFTR-RD:1
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 - -
Exon 6 c.613C>T P205S disease-causing - -
Exon 6 c.617T>C VUS - -
Exon 6 c.617T>G L206W disease-causing - -
Exon 6 c.618G>T L206F VUS - -
Exon 6 c.619C>T Q207X disease-causing - -
Exon 6 c.627A>G A209A (759A/G) VUSCF: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 - -
Exon 6 c.650A>G E217G VUS - -
Exon 6 c.658C>T Q220X disease-causing - -
Exon 6 c.674G>A VUS - -
Exon 6 c.680T>C VUS - -
Exon 6 c.680T>G L227R disease-causing - -
Exon 6 c.695T>A V232D disease-causing - -
Exon 6 c.701C>A VUS - -
Exon 6 c.709C>G Q237E disease-causing - -
Exon 6 c.710A>T VUS - -
Exon 6 c.711G>C Q237H VUS - -
Exon 6 c.715G>A G239R VUS - -
Exon 6 c.721G>T VUS - -
Exon 6 c.731T>A M244K VUS - -
Intron 6 c.743+40A>G 875+40A/G non disease-causingAsymptomatic:4
CF:3
CFTR-RD:4
Infertility:1
Pending (NBS):8
Suspicion of CF:3
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 reportedInfertility: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 - -
Exon 7 c.769G>T E257X disease-causing - -
Exon 7 c.772A>G R258G disease-causingAsymptomatic:1
0.000112 AG: 0.00 (-28)
AL: 0.01 (-26)
DG: 0.00 (-6)
DL: 0.00 (5)
Exon 7 c.774A>C VUS - -
Exon 7 c.794T>G M265R disease-causing - -
Exon 7 c.808C>T Q270X disease-causing - -
Exon 7 c.825C>G Y275X disease-causing - -
Exon 7 c.837A>T E279D VUS - -
Exon 7 c.846A>T E282D VUS - -
Exon 7 c.859A>T N287Y VUS - -
Exon 7 c.861C>G VUS - -
Exon 7 c.868C>T Q290X disease-causing - -
Intron 7 c.869+5G>A disease-causing - -
Intron 7 c.869+5G>T VUS - -
Intron 7 c.869+8G>T VUS - -
Intron 7 c.869+11C>T 1001+11C/T non disease-causingAsymptomatic:11
CF:13
CFTR-RD:10
Pending (NBS):13
Suspicion of CF:12
0.075448 AG: 0.00 (-41)
AL: 0.00 (-11)
DG: 0.00 (-7)
DL: 0.00 (16)
Intron 7 c.869+88T>A VUSAsymptomatic:1
CFTR-RD: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 - -
Intron 7 c.869+233C>A not reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedInfertility:1
- AG: 0.00 (42)
AL: 0.00 (29)
DG: 0.00 (-1)
DL: 0.00 (4)
Intron 7 c.869+1481A>G not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedSuspicion 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 - -
Intron 7 c.870-1101T>C VUS - -
Intron 7 c.870-1125A>G VUS - -
Intron 7 c.870-1225G>A not reportedAsymptomatic: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 reportedAsymptomatic: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 - -
Exon 8 c.874G>T E292X disease-causing - -
Exon 8 c.890G>A R297Q VUS - -
Exon 8 c.899C>A VUS - -
Exon 8 c.902A>G Y301C VUS - -
Exon 8 c.912C>G Y304X disease-causing - -
Exon 8 c.920G>A S307N VUS - -
Exon 8 c.926C>G A309G VUS - -
Exon 8 c.933C>A F311L(C->A) disease-causing - -
Exon 8 c.933C>G F311L disease-causing - -
Exon 8 c.941G>A G314E disease-causing - -
Exon 8 c.941G>C VUS - -
Exon 8 c.941G>T G314V VUS - -
Exon 8 c.958T>G L320V VUS - -
Exon 8 c.959T>A L320X disease-causing - -
Exon 8 c.964G>A V322M (1096(G/A)) VUS - -
Exon 8 c.965T>C V322A VUS - -
Exon 8 c.979C>G L327V VUS - -
Exon 8 c.980T>G L327R VUS - -
Exon 8 c.1000C>T R334W disease-causing - -
Exon 8 c.1001G>A R334Q disease-causing - -
Exon 8 c.1001G>T R334L disease-causing - -
Exon 8 c.1007T>A I336K disease-causing - -
Exon 8 c.1013C>T T338I disease-causing - -
Exon 8 c.1021T>C S341P disease-causing - -
Exon 8 c.1037T>C L346P disease-causing - -
Exon 8 c.1039C>T R347C VUS - -
Exon 8 c.1040G>A R347H disease-causing - -
Exon 8 c.1040G>C R347P disease-causing - -
Exon 8 c.1040G>T R347L disease-causing - -
Exon 8 c.1043T>A M348K VUS - -
Exon 8 c.1046C>T A349V VUS - -
Exon 8 c.1052C>G T351S VUS - -
Exon 8 c.1054C>G R352G VUS - -
Exon 8 c.1054C>T R352W disease-causing - -
Exon 8 c.1055G>A R352Q disease-causing - -
Exon 8 c.1057C>T Q353X disease-causing - -
Exon 8 c.1064C>T VUS - -
Exon 8 c.1069G>A A357T VUSPending (NBS):1
- AG: 0.00 (13)
AL: 0.00 (0)
DG: 0.03 (13)
DL: 0.00 (-22)
Exon 8 c.1070C>T A357V VUS - -
Exon 8 c.1076A>G Q359R disease-causing - -
Exon 8 c.1081T>A W361R(T>A) VUS - -
Exon 8 c.1081T>C W361R(T>C) disease-causing - -
Exon 8 c.1090T>C S364P VUS - -
Exon 8 c.1116G>A VUS - -
Intron 8 c.1116+1G>A 1248+1G>A disease-causingCF: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 - -
Intron 8 c.1116+31A>C 1248+31 A/C VUS - -
Intron 8 c.1116+592C>T not reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedPending (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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 - -
Exon 9 c.1125A>C L375F VUS - -
Exon 9 c.1135G>A E379K VUS - -
Exon 9 c.1139A>G Y380C VUS - -
Exon 9 c.1163C>T T388M VUS - -
Exon 9 c.1175T>G V392G disease-causing - -
Exon 9 c.1177G>C V393L VUS - -
Exon 9 c.1202G>A W401X(TAG) disease-causing - -
Exon 9 c.1203G>A W401X(TGA) disease-causing - -
Exon 9 c.1209G>A E403E (1341G/A) disease-causing - -
Exon 9 c.1209G>C E403D disease-causing - -
Intron 9 c.1209+1G>A 1341+1G>A disease-causing - -
Intron 9 c.1209+2T>G disease-causing - -
Intron 9 c.1210-6T>A VUS - -
Intron 9 c.1209+18A>C 1341+18A>C VUS - -
Intron 9 c.1209+28C>T VUS - -
Intron 9 c.1210-32T>G not reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic:1
- AG: 0.00 (2)
AL: 0.00 (16)
DG: 0.00 (28)
DL: 0.00 (27)
Intron 9 c.1209+425C>T not reportedCF: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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedSuspicion 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 - -
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 - -
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 - -
Exon 10 c.1327G>T D443Y disease-causing - -
Exon 10 c.1331T>C I444T VUS - -
Exon 10 c.1355A>C Q452P VUS - -
Exon 10 c.1358T>C L453S disease-causing - -
Exon 10 c.1364C>A A455E disease-causing - -
Exon 10 c.1364C>T A455V VUS - -
Exon 10 c.1365G>A VUS - -
Exon 10 c.1366G>T V456F VUS - -
Exon 10 c.1367T>C V456A disease-causing - -
Exon 10 c.1373G>T G458V VUS - -
Exon 10 c.1388G>T G463V VUS - -
Exon 10 c.1390A>C K464Q VUS - -
Exon 10 c.1392G>T K464N disease-causing - -
Intron 10 c.1393-1G>A 1525- 1G- >A disease-causing - -
Intron 10 c.1393-2A>G 1525-2A>G disease-causing - -
Intron 10 c.1393-3C>A VUS - -
Intron 10 c.1392+41G>A not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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-causingAsymptomatic:15
CF:14
CFTR-RD:13
Pending (NBS):15
Suspicion of CF:16
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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedPending (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 reportedAsymptomatic: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 reportedCF: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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedPending (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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedPending (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 reportedCF:3
- AG: 0.00 (9)
AL: 0.00 (1)
DG: 0.00 (-7)
DL: 0.00 (-1)
Intron 10 c.1392+4130A>G not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedCF: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedInfertility: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic:1
- AG: 0.00 (-16)
AL: 0.00 (12)
DG: 0.00 (-22)
DL: 0.00 (4)
Intron 10 c.1393-1104C>T not reportedCFTR-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 reportedAsymptomatic:1
- AG: 0.00 (-45)
AL: 0.00 (0)
DG: 0.00 (-2)
DL: 0.00 (50)
Intron 10 c.1393-1775C>A not reportedCFTR-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 reportedPending (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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedInfertility: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 reportedPending (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 reportedAsymptomatic: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 reportedCFTR-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 reportedCFTR-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 reportedCFTR-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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 - -
Exon 11 c.1397C>T S466L VUS - -
Exon 11 c.1399C>T 1531C/T (L467F) VUS - -
Exon 11 c.1405A>G M469V disease-causing - -
Exon 11 c.1408A>G M470V non disease-causing - -
Exon 11 c.1408G>A V470M not reportedAsymptomatic: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 - -
Exon 11 c.1429C>T P477S VUS - -
Exon 11 c.1438G>A G480S VUS - -
Exon 11 c.1438G>T G480C VUS - -
Exon 11 c.1439G>A G480D VUSSuspicion of CF:1
- AG: 0.00 (-46)
AL: 0.09 (41)
DG: 0.00 (4)
DL: 0.00 (-1)
Exon 11 c.1453A>T S485C VUS - -
Exon 11 c.1466C>A S489X disease-causing - -
Exon 11 c.1466C>T VUS - -
Exon 11 c.1471T>C C491R disease-causing - -
Exon 11 c.1475C>T S492F disease-causing - -
Exon 11 c.1477C>T Q493X disease-causing - -
Exon 11 c.1494G>C M498I VUS - -
Exon 11 c.1495C>T VUS - -
Exon 11 c.1499G>T VUS - -
Exon 11 c.1501A>G T501A disease-causing - -
Exon 11 c.1505T>C I502T disease-causing - -
Exon 11 c.1516A>C I506L VUS - -
Exon 11 c.1516A>G I506V (1648A/G) VUS - -
Exon 11 c.1517T>C I506T disease-causingCF: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 - -
Exon 11 c.1523T>G F508C disease-causingCF: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 - -
Exon 11 c.1555A>G S519G VUS - -
Exon 11 c.1558G>A V520I VUS - -
Exon 11 c.1558G>T V520F disease-causing - -
Exon 11 c.1562T>G VUS - -
Exon 11 c.1568C>A VUS - -
Exon 11 c.1573C>A VUS - -
Exon 11 c.1573C>T Q525X disease-causing - -
Exon 11 c.1580A>G E527G VUS - -
Exon 11 c.1581A>G E527E (1713A/G) VUS - -
Exon 11 c.1583A>C VUS - -
Exon 11 c.1584G>A E528E (1716G/A) non disease-causingAsymptomatic:2
CFTR-RD:1
Suspicion of CF: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 - -
Intron 11 c.1584+2T>C 1716+2T>C disease-causing - -
Intron 11 c.1585-1G>A 1717-1G>A disease-causingAsymptomatic:1
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 - -
Intron 11 c.1585-8G>A 1717-8G>A disease-causing - -
Intron 11 c.1584+12T>C 1716+12T/C VUS - -
Intron 11 c.1584+64T>C VUS - -
Intron 11 c.1584+77A>G 1716+ 77A/G VUS - -
Intron 11 c.1585-84A>C VUS - -
Intron 11 c.1584+475T>C not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic:1
- -
Intron 11 c.1585-889G>A not reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedPending (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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedCFTR-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 reportedSuspicion 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 reportedSuspicion 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 reportedPending (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 reportedPending (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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedPending (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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedPending (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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedSuspicion 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 reportedCF:1
- AG: 0.00 (-21)
AL: 0.00 (1)
DG: 0.00 (46)
DL: 0.00 (1)
Intron 11 c.1585-7357G>T not reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-RD:1
- -
Intron 11 c.1585-8612G>A not reportedCFTR-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 reportedPending (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 - -
Intron 11 c.1585-9218G>A non disease-causingAsymptomatic:24
CF:17
CFTR-RD:20
Infertility:1
Pending (NBS):17
Suspicion of CF:33
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 reportedSuspicion 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 - -
Intron 11 c.1585-9412A>G disease-causingAsymptomatic:1
CF:3
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 - -
Intron 11 c.1585-9449C>A VUS - -
Intron 11 c.1585-9634T>A not reportedAsymptomatic: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 reportedCFTR-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 reportedCF:1
- AG: 0.00 (-27)
AL: 0.00 (-6)
DG: 0.00 (40)
DL: 0.00 (-32)
Intron 11 c.1585-9806T>C not reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedCF: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 reportedCF: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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedSuspicion 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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedCFTR-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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 - -
Exon 12 c.1603G>A VUS - -
Exon 12 c.1609G>A D537N disease-causingPending (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-causingAsymptomatic:1
CF:1
CFTR-RD:1
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 - -
Exon 12 c.1631G>T G544V VUS - -
Exon 12 c.1645A>C S549R(A>C) disease-causing - -
Exon 12 c.1646G>A S549N disease-causing - -
Exon 12 c.1647T>G S549R(T>G) disease-causing - -
Exon 12 c.1651G>A G551S disease-causing - -
Exon 12 c.1652G>A G551D disease-causingSuspicion of CF:3
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 - -
Exon 12 c.1655A>C Q552P VUS - -
Exon 12 c.1657C>G R553G VUS - -
Exon 12 c.1657C>T R553X disease-causingAsymptomatic:1
CFTR-RD:1
Pending (NBS):2
Suspicion of CF:1
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-causingAsymptomatic:1
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 - -
Exon 12 c.1675G>A A559T disease-causing - -
Exon 12 c.1679G>A R560K disease-causing - -
Intron 12 c.1679+1G>C 1811+1G>C disease-causing - -
Intron 12 c.1679+9C>G VUS - -
Intron 12 c.1680-1G>A 1812-1G>A disease-causing - -
Intron 12 c.1679+18G>A 1811+18G->A VUS - -
Intron 12 c.1680-99T>C 1812- 99 T- >C VUS - -
Intron 12 c.1680-124T>C not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 - -
Intron 12 c.1680-870T>A 1811+1650T>A non disease-causingAsymptomatic:24
CF:17
CFTR-RD:20
Infertility:1
Pending (NBS):17
Suspicion of CF:33
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 - -
Intron 12 c.1680-877G>T 1811+1643G->T disease-causing - -
Intron 12 c.1680-883A>G disease-causingAsymptomatic:2
CF:1
- 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 - -
Intron 12 c.1680-981T>C VUS - -
Intron 12 c.1679+1125C>G not reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 - -
Exon 13 c.1682C>A A561E disease-causing - -
Exon 13 c.1684G>A V562I VUSCFTR-RD:1
- AG: 0.03 (-2)
AL: 0.42 (1)
DG: 0.00 (31)
DL: 0.00 (1)
Exon 13 c.1684G>C V562L VUS - -
Exon 13 c.1687T>A Y563N disease-causing - -
Exon 13 c.1690A>G VUS - -
Exon 13 c.1694A>G D565G disease-causing - -
Exon 13 c.1695T>G VUS - -
Exon 13 c.1696G>A A566T VUS - -
Exon 13 c.1704G>T L568F VUS - -
Exon 13 c.1705T>C Y569H disease-causing - -
Exon 13 c.1705T>G Y569D disease-causing - -
Exon 13 c.1706A>G Y569C VUS - -
Exon 13 c.1707T>A Y569X disease-causing - -
Exon 13 c.1720C>T P574S VUS - -
Exon 13 c.1721C>A P574H disease-causing - -
Exon 13 c.1721C>G VUS - -
Exon 13 c.1723T>G F575V VUS - -
Exon 13 c.1724T>A F575Y disease-causing - -
Exon 13 c.1727G>C G576A disease-causing - -
Exon 13 c.1730A>T Y577F VUS - -
Exon 13 c.1731C>T Y577Y (1863C/T) VUS - -
Exon 13 c.1736A>G D579G disease-causing - -
Exon 13 c.1745C>T T582I disease-causingSuspicion of CF: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 - -
Exon 13 c.1759T>A VUS - -
Exon 13 c.1762G>A VUS - -
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 - -
Intron 13 c.1766+1G>C 1898+1G>C disease-causing - -
Intron 13 c.1766+3A>C 1898+3A>C disease-causing - -
Intron 13 c.1766+3A>G 1898+3A>G disease-causing - -
Intron 13 c.1766+5G>A 1898+5G>A disease-causing - -
Intron 13 c.1766+5G>T 1898+5G>T disease-causing - -
Intron 13 c.1766+73T>G 1898+73T>G VUSSuspicion of CF:1
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 - -
Intron 13 c.1767-58G>C VUS - -
Intron 13 c.1766+152T>A 1898+152T/A non disease-causingAsymptomatic:14
CF:7
CFTR-RD:12
Infertility:1
Pending (NBS):11
Suspicion of CF:24
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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 - -
Exon 14 c.1781T>C L594P VUS - -
Exon 14 c.1783A>G VUS - -
Exon 14 c.1784T>C M595T VUS - -
Exon 14 c.1792A>G VUS - -
Exon 14 c.1792A>T K598X disease-causing - -
Exon 14 c.1798A>G R600G VUS - -
Exon 14 c.1800G>T VUS - -
Exon 14 c.1801A>T I601F disease-causing - -
Exon 14 c.1802T>C VUS - -
Exon 14 c.1811C>T T604I disease-causing - -
Exon 14 c.1819A>G VUS - -
Exon 14 c.1826A>G H609R disease-causing - -
Exon 14 c.1826A>T H609L VUS - -
Exon 14 c.1841A>G D614G disease-causing - -
Exon 14 c.1847T>C VUS - -
Exon 14 c.1853T>A I618N VUS - -
Exon 14 c.1853T>C I618T disease-causing - -
Exon 14 c.1853T>G I618S VUS - -
Exon 14 c.1865G>A G622D disease-causing - -
Exon 14 c.1882G>A G628R(G->A) disease-causing - -
Exon 14 c.1882G>C G628R(G->C) disease-causing - -
Exon 14 c.1897C>T VUS - -
Exon 14 c.1900C>T Q634X disease-causing - -
Exon 14 c.1920T>C F640F (2052T/C) VUS - -
Exon 14 c.1966G>T E656X disease-causing - -
Exon 14 c.1970G>A VUS - -
Exon 14 c.1990G>C E664Q VUS - -
Exon 14 c.1990G>T E664X disease-causing - -
Exon 14 c.2002C>T R668C disease-causingSuspicion of CF:1
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 - -
Exon 14 c.2052A>G not reportedSuspicion 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 - -
Exon 14 c.2065C>T Q689X disease-causing - -
Exon 14 c.2074G>C E692Q VUS - -
Exon 14 c.2096A>G VUS - -
Exon 14 c.2125C>T R709X disease-causing - -
Exon 14 c.2128A>T K710X disease-causing - -
Exon 14 c.2145A>C Q715H VUS - -
Exon 14 c.2168G>T G723V VUS - -
Exon 14 c.2173G>A E725K VUS - -
Exon 14 c.2179G>T D727Y not reportedPending (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 - -
Exon 14 c.2210C>T S737F VUSPending (NBS):1
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 - -
Exon 14 c.2245C>T L749L (2377C/T) VUS - -
Exon 14 c.2249C>T P750L disease-causing - -
Exon 14 c.2252G>T R751L VUS - -
Exon 14 c.2259C>T S753S (2391C/T) VUS - -
Exon 14 c.2260G>A V754M non disease-causing - -
Exon 14 c.2290C>T R764X disease-causing - -
Exon 14 c.2295G>T VUS - -
Exon 14 c.2297G>A R766K VUS - -
Exon 14 c.2299C>T Q767X disease-causing - -
Exon 14 c.2327C>G S776X disease-causingSuspicion of CF:1
- AG: 0.02 (-40)
AL: 0.00 (3)
DG: 0.00 (1)
DL: 0.00 (11)
Exon 14 c.2335C>A VUS - -
Exon 14 c.2353C>T R785X disease-causing - -
Exon 14 c.2374C>G R792G VUS - -
Exon 14 c.2374C>T R792X disease-causing - -
Exon 14 c.2378A>T VUS - -
Exon 14 c.2395C>A Q799K VUS - -
Exon 14 c.2417A>G D806G VUS - -
Exon 14 c.2421A>G I807M ; 2553A/G disease-causing - -
Exon 14 c.2428A>G R810G VUS - -
Exon 14 c.2450G>T VUS - -
Exon 14 c.2464G>A E822K VUS - -
Exon 14 c.2464G>T E822X disease-causing - -
Exon 14 c.2476G>A E826K VUS - -
Exon 14 c.2479G>T E827X disease-causing - -
Exon 14 c.2483A>G D828G VUS - -
Exon 14 c.2488A>T K830X disease-causing - -
Intron 14 c.2490+1G>A 2622+1G>A disease-causing - -
Intron 14 c.2490+2T>C 2622+2T>C VUS - -
Intron 14 c.2490+5G>T VUS - -
Intron 14 c.2491-51T>C 2623-51T>C VUS - -
Intron 14 c.2491-64A>G not reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedInfertility:1
- AG: 0.00 (0)
AL: 0.00 (-49)
DG: 0.00 (-2)
DL: 0.00 (22)
Intron 14 c.2491-808G>A not reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 - -
Exon 15 c.2496C>A C832X disease-causing - -
Exon 15 c.2502T>G VUS - -
Exon 15 c.2506G>T D836Y VUS - -
Exon 15 c.2522C>G P841R VUS - -
Exon 15 c.2537G>A W846X disease-causing - -
Exon 15 c.2538G>A W846X (2670TGG>TGA) disease-causing - -
Exon 15 c.2540A>G VUS - -
Exon 15 c.2547C>A Y849X disease-causing - -
Exon 15 c.2551C>T R851X disease-causing - -
Exon 15 c.2552G>T R851L VUS - -
Exon 15 c.2556T>G Y852X disease-causing - -
Exon 15 c.2559T>C I853I (2691T/C) VUS - -
Exon 15 c.2562T>C T854T (2694T/C) VUS - -
Exon 15 c.2562T>G T854T (2694T/G) non disease-causingAsymptomatic:13
CF:5
CFTR-RD:12
Infertility:1
Pending (NBS):11
Suspicion of CF:24
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 - -
Exon 15 c.2596T>C C866R VUS - -
Exon 15 c.2597G>A C866Y VUS - -
Exon 15 c.2598C>G C866W VUS - -
Exon 15 c.2600T>A L867X disease-causing - -
Exon 15 c.2604A>G V868V (2736G/A) VUS - -
Intron 15 c.2619+3A>G 2751+3A>G VUS - -
Intron 15 c.2620-6T>C 2752-6T->C non disease-causing - -
Intron 15 c.2619+62T>C VUS - -
Intron 15 c.2620-15C>G 2752-15C/G VUSAsymptomatic:2
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 - -
Intron 15 c.2620-22A>G 2752-22A/G VUS - -
Intron 15 c.2620-26A>G 2752-26A>G non disease-causing - -
Intron 15 c.2619+106T>A VUSAsymptomatic:2
CF:1
CFTR-RD:1
Pending (NBS):2
Suspicion of CF:5
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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedSuspicion 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 reportedCFTR-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 reportedSuspicion 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 reportedSuspicion 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 reportedCF: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedPending (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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic:1
- AG: 0.00 (49)
AL: 0.00 (-46)
DG: 0.00 (11)
DL: 0.00 (48)
Intron 15 c.2620-1021T>C not reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedSuspicion 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 reportedCFTR-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 reportedCFTR-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 reportedAsymptomatic: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 reportedSuspicion 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 reportedCF: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 - -
Intron 16 c.2657+5G>A 2789+5G>A disease-causing - -
Intron 16 c.2658-1G>C 2790-1G>C disease-causing - -
Intron 16 c.2658-1G>T 2790-1G>T disease-causing - -
Intron 16 c.2658-2A>G 2790-2A>G VUS - -
Intron 16 c.2657+66C>T VUS - -
Intron 16 c.2658-13A>G VUS - -
Intron 16 c.2658-21G>A 2790-21G/A VUS - -
Intron 16 c.2658-77T>A VUS - -
Intron 16 c.2657+285C>A not reportedSuspicion 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 - -
Exon 17 c.2669A>G Q890R VUS - -
Exon 17 c.2672A>G D891G VUS - -
Exon 17 c.2679G>T G893G (2811G/T) VUS - -
Exon 17 c.2695A>G VUS - -
Exon 17 c.2699A>C N900T VUS - -
Exon 17 c.2706C>G S902R disease-causing - -
Exon 17 c.2719A>G 2851A/G VUS - -
Exon 17 c.2723C>A T908N disease-causing - -
Exon 17 c.2735C>A S912X disease-causing - -
Exon 17 c.2735C>G S912W VUS - -
Exon 17 c.2735C>T S912L VUS - -
Exon 17 c.2739T>A Y913X disease-causing - -
Exon 17 c.2743G>C V915L VUS - -
Exon 17 c.2754T>G I918M VUS - -
Exon 17 c.2756A>G Y919C VUS - -
Exon 17 c.2758G>A V920M VUS - -
Exon 17 c.2758G>T V920L VUS - -
Exon 17 c.2770G>A D924N VUS - -
Exon 17 c.2770G>C VUS - -
Exon 17 c.2780T>C L927P disease-causing - -
Exon 17 c.2797A>G R933G disease-causing - -
Exon 17 c.2813T>G V938G disease-causing - -
Exon 17 c.2816A>G H939R disease-causing - -
Exon 17 c.2834C>T S945L disease-causing - -
Exon 17 c.2846A>G H949R VUS - -
Exon 17 c.2846A>T H949L VUS - -
Exon 17 c.2851A>G VUS - -
Exon 17 c.2855T>C M952T VUSCFTR-RD:1
Pending (NBS):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 - -
Exon 17 c.2876C>T A959V VUS - -
Exon 17 c.2898G>A T966T (3030G/A) non disease-causingSuspicion of CF: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 - -
Exon 17 c.2908G>C G970R disease-causing - -
Intron 17 c.2908+1G>A disease-causing - -
Intron 17 c.2908+4C>A VUS - -
Intron 17 c.2908+19G>A VUS - -
Intron 17 c.2909-15T>C VUS - -
Intron 17 c.2909-15T>G 3041-15T>G disease-causing - -
Intron 17 c.2909-36T>G VUS - -
Intron 17 c.2909-71G>C 3041-71G/C non disease-causingCFTR-RD:1
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-causingAsymptomatic:11
CF:8
CFTR-RD:9
Infertility:1
Pending (NBS):10
Suspicion of CF:16
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 reportedCFTR-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 reportedSuspicion 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 reportedSuspicion 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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 - -
Exon 18 c.2909G>T VUS - -
Exon 18 c.2930C>T S977F disease-causing - -
Exon 18 c.2936A>C D979A VUS - -
Exon 18 c.2936A>T D979V disease-causing - -
Exon 18 c.2939T>A I980K disease-causing - -
Exon 18 c.2940A>G I980M VUS - -
Exon 18 c.2946T>G VUS - -
Exon 18 c.2953G>C D985H VUS - -
Exon 18 c.2953G>T D985Y VUS - -
Exon 18 c.2957T>C VUS - -
Exon 18 c.2973A>G I991M VUS - -
Exon 18 c.2977G>T D993Y disease-causing - -
Exon 18 c.2978A>G D993G VUS - -
Exon 18 c.2981T>G F994C VUS - -
Exon 18 c.2987A>T VUS - -
Exon 18 c.2988G>A Q996Q (3120G/A) disease-causing - -
Intron 18 c.2988+1G>A 3120+1G>A disease-causingSuspicion of CF:1
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 - -
Intron 18 c.2989-2A>G 3121-2A>G disease-causing - -
Intron 18 c.2989-3C>G 3121-3C>G VUS - -
Intron 18 c.2989-35G>A VUS - -
Intron 18 c.2989-69C>G VUS - -
Intron 18 c.2988+444G>T not reportedCFTR-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 reportedAsymptomatic: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-causingCF:2
- AG: 0.23 (-35)
AL: 0.00 (25)
DG: 0.55 (-2)
DL: 0.00 (-36)
Intron 18 c.2989-357C>T VUS - -
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 reportedCFTR-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 reportedAsymptomatic: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 reportedCFTR-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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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-causingCFTR-RD:1
Pending (NBS):1
Suspicion of CF:2
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 - -
Exon 19 c.3017C>A A1006E disease-causing - -
Exon 19 c.3038C>A P1013H VUS - -
Exon 19 c.3038C>T P1013L VUS - -
Exon 19 c.3041A>G Y1014C VUS - -
Exon 19 c.3047T>C F1016S disease-causing - -
Exon 19 c.3059T>A V1020E VUS - -
Exon 19 c.3080T>C I1027T VUSSuspicion of CF:1
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 - -
Exon 19 c.3095A>G Y1032C disease-causing - -
Exon 19 c.3107C>A T1036N disease-causing - -
Exon 19 c.3124C>T Q1042X disease-causing - -
Exon 19 c.3131A>G VUS - -
Intron 19 c.3139+1G>A 3271+1G>A disease-causing - -
Intron 19 c.3139+16T>A VUS - -
Intron 19 c.3139+18C>T 3271+18C/T non disease-causingSuspicion of CF: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-causingSuspicion of CF:1
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 - -
Intron 19 c.3140-16T>A VUS - -
Intron 19 c.3140-25T>A VUS - -
Intron 19 c.3140-26A>G 3272-26A>G disease-causing - -
Intron 19 c.3140-33A>G 3272-33A/G VUS - -
Intron 19 c.3140-92T>C 3272-93T/C non disease-causingAsymptomatic:1
Suspicion of CF:2
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 - -
Exon 20 c.3148C>G P1050A VUS - -
Exon 20 c.3151A>G I1051V VUS - -
Exon 20 c.3154T>G F1052V disease-causingPending (NBS):1
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 - -
Exon 20 c.3160C>T VUS - -
Exon 20 c.3170C>G VUS - -
Exon 20 c.3179A>C K1060T VUS - -
Exon 20 c.3181G>A VUS - -
Exon 20 c.3181G>C G1061R disease-causing - -
Exon 20 c.3189G>A W1063X disease-causing - -
Exon 20 c.3194T>C L1065P disease-causing - -
Exon 20 c.3196C>T R1066C disease-causing - -
Exon 20 c.3197G>A R1066H disease-causing - -
Exon 20 c.3197G>C R1066P disease-causing - -
Exon 20 c.3197G>T R1066L disease-causing - -
Exon 20 c.3199G>A A1067T VUS - -
Exon 20 c.3200C>T A1067V VUS - -
Exon 20 c.3205G>A G1069R disease-causing - -
Exon 20 c.3208C>T R1070W disease-causing - -
Exon 20 c.3209G>A R1070Q disease-causing - -
Exon 20 c.3211C>T Q1071X disease-causing - -
Exon 20 c.3222T>A F1074L VUS - -
Exon 20 c.3230T>C L1077P disease-causing - -
Exon 20 c.3233T>C VUS - -
Exon 20 c.3238A>C K1080Q VUS - -
Exon 20 c.3241G>C A1081P VUS - -
Exon 20 c.3254A>C H1085P VUS - -
Exon 20 c.3254A>G H1085R disease-causing - -
Exon 20 c.3256A>G T1086A VUS - -
Exon 20 c.3257C>T T1086I VUS - -
Exon 20 c.3262A>G N1088D VUS - -
Exon 20 c.3266G>A W1089X disease-causing - -
Exon 20 c.3274T>C Y1092H VUS - -
Exon 20 c.3276C>A Y1092X(C>A) disease-causing - -
Exon 20 c.3276C>G Y1092X(C>G) disease-causing - -
Exon 20 c.3285A>T T1095T (3417A/T) VUS - -
Exon 20 c.3288G>A VUS - -
Exon 20 c.3290G>A R1097H VUS - -
Exon 20 c.3292T>C W1098R disease-causing - -
Exon 20 c.3293G>A W1098X(TAG) disease-causing - -
Exon 20 c.3294G>A W1098X(TGA) disease-causing - -
Exon 20 c.3294G>C disease-causingPending (NBS):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 - -
Exon 20 c.3299A>C Q1100P VUS - -
Exon 20 c.3302T>A M1101K disease-causing - -
Exon 20 c.3302T>G M1101R disease-causing - -
Exon 20 c.3304A>T R1102X disease-causing - -
Exon 20 c.3310G>T E1104X disease-causing - -
Exon 20 c.3322G>C V1108L VUS - -
Exon 20 c.3340G>C V1114L VUS - -
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 - -
Intron 20 c.3367+37G>A 3499+37G/A non disease-causing - -
Intron 20 c.3367+45T>C 3499+45T/C VUS - -
Intron 20 c.3367+196C>T not reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedSuspicion 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-causingAsymptomatic:11
CF:8
CFTR-RD:9
Infertility:1
Pending (NBS):10
Suspicion of CF:17
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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic:1
- AG: 0.00 (17)
AL: 0.00 (-2)
DG: 0.00 (-2)
DL: 0.00 (35)
Exon 21 c.3380G>A G1127E VUS - -
Exon 21 c.3382A>G VUS - -
Exon 21 c.3382A>T R1128X disease-causing - -
Exon 21 c.3406G>A A1136T VUS - -
Exon 21 c.3409A>G M1137V VUS - -
Exon 21 c.3410T>G M1137R disease-causing - -
Exon 21 c.3415A>G I1139V disease-causing - -
Exon 21 c.3422G>A VUS - -
Exon 21 c.3443A>G N1148S VUS - -
Exon 21 c.3454G>C D1152H disease-causingCF:2
Suspicion of CF:1
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 - -
Exon 21 c.3460G>A VUS - -
Exon 21 c.3461A>G D1154G disease-causing - -
Exon 21 c.3461A>T VUS - -
Exon 21 c.3468G>A L1156L (3600G/A) disease-causing - -
Intron 21 c.3468+2T>C 3600+2T>C disease-causing - -
Intron 21 c.3468+5G>A 3600+5G>A VUS - -
Intron 21 c.3468+51C>A VUS - -
Intron 21 c.3468+70T>C VUS - -
Intron 21 c.3468+85T>C not reportedSuspicion 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 - -
Intron 21 c.3469-20T>C 3601-20T>C VUS - -
Intron 21 c.3469-65C>A 3601-65C/A non disease-causingAsymptomatic:11
CF:8
CFTR-RD:9
Infertility:1
Pending (NBS):10
Suspicion of CF:16
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 reportedAsymptomatic: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 reportedPending (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 reportedAsymptomatic: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 reportedSuspicion 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 reportedCF: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 reportedCF:1
- AG: 0.00 (45)
AL: 0.00 (-18)
DG: 0.00 (-24)
DL: 0.00 (-18)
Intron 21 c.3468+1241C>G not reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedAsymptomatic: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 reportedCFTR-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 reportedSuspicion 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 reportedCFTR-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 reportedCFTR-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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedSuspicion 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 reportedCFTR-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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedSuspicion 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-causingCF:1
- AG: 0.00 (-1)
AL: 0.00 (12)
DG: 0.98 (-1)
DL: 0.02 (-11)
Intron 21 c.3469-1374A>C VUS - -
Intron 21 c.3469-1473A>G VUS - -
Intron 21 c.3469-1606C>T not reportedAsymptomatic: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 reportedCFTR-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 reportedCFTR-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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedCFTR-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 reportedCF: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 reportedAsymptomatic: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 reportedPending (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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic:1
- AG: 0.00 (41)
AL: 0.00 (-45)
DG: 0.00 (41)
DL: 0.00 (-6)
Intron 21 c.3469-6154A>G not reportedCFTR-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 reportedSuspicion 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 reportedAsymptomatic: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 - -
Exon 22 c.3472C>T R1158X disease-causingCF:1
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 - -
Exon 22 c.3475T>C S1159P disease-causing - -
Exon 22 c.3476C>T S1159F disease-causing - -
Exon 22 c.3484C>T R1162X disease-causing - -
Exon 22 c.3485G>T 3617G/T disease-causingCFTR-RD:1
Pending (NBS):1
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 - -
Exon 22 c.3562T>C S1188P VUS - -
Exon 22 c.3587C>G S1196X disease-causing - -
Exon 22 c.3590A>T VUS - -
Exon 22 c.3611G>A W1204X(3743G>A) disease-causing - -
Exon 22 c.3612G>A W1204X(3744G>A) disease-causing - -
Exon 22 c.3617C>A S1206X(C>A) disease-causing - -
Exon 22 c.3617C>G S1206X disease-causing - -
Exon 22 c.3628A>G VUS - -
Exon 22 c.3681A>G L1227L (3813A/G) VUS - -
Exon 22 c.3689T>C I1230T VUS - -
Exon 22 c.3700A>G I1234V disease-causing - -
Exon 22 c.3705T>G S1235R VUS - -
Exon 22 c.3712C>T Q1238X disease-causing - -
Exon 22 c.3713A>G Q1238R VUS - -
Exon 22 c.3717G>A 3849G>A disease-causing - -
Intron 22 c.3717+1G>A 3849+ 1G- >A disease-causing - -
Intron 22 c.3717+4A>G 3849+4A>G disease-causing - -
Intron 22 c.3718-1G>A 3850-1G>A disease-causing - -
Intron 22 c.3717+40A>G 3849+40A>G disease-causing - -
Intron 22 c.3717+45G>A 3849+45G>A VUS - -
Intron 22 c.3717+68A>G VUS - -
Intron 22 c.3718-24G>A VUSCFTR-RD:1
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 - -
Intron 22 c.3718-79T>C 3850-79T/C VUS - -
Intron 22 c.3717+372A>G not reportedCFTR-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 reportedSuspicion 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 reportedSuspicion 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 reportedCFTR-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 reportedCF:1
- AG: 0.00 (-10)
AL: 0.00 (42)
DG: 0.00 (-10)
DL: 0.00 (-11)
Intron 22 c.3718-950T>C not reportedSuspicion 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 reportedAsymptomatic: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 reportedCFTR-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 reportedCFTR-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 reportedCFTR-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 reportedSuspicion 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 reportedCFTR-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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedCF: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 reportedSuspicion 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 reportedCFTR-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 reportedAsymptomatic:1
- AG: 0.00 (5)
AL: 0.00 (-1)
DG: 0.00 (5)
DL: 0.00 (-1)
Intron 22 c.3717+6146T>G not reportedSuspicion 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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedCFTR-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 reportedCFTR-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 reportedCF: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 reportedSuspicion 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 reportedCFTR-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 reportedSuspicion 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 reportedCFTR-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 reportedSuspicion 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-causingSuspicion of CF:1
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 - -
Intron 22 c.3718-3345G>A not reportedSuspicion 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 reportedCFTR-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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedInfertility: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 reportedCFTR-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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic:1
- AG: 0.00 (2)
AL: 0.00 (44)
DG: 0.00 (2)
DL: 0.00 (-40)
Intron 22 c.3718-5374A>G not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic:3
- AG: 0.00 (-34)
AL: 0.00 (35)
DG: 0.00 (-37)
DL: 0.00 (-9)
Intron 22 c.3718-5408G>T not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedCFTR-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 reportedCFTR-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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedInfertility: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-causingPending (NBS):1
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 - -
Exon 23 c.3745G>A G1249R disease-causing - -
Exon 23 c.3746G>A G1249E disease-causing - -
Exon 23 c.3752G>A S1251N disease-causing - -
Exon 23 c.3754A>C T1252P VUS - -
Exon 23 c.3806T>A I1269N disease-causing - -
Exon 23 c.3808G>A D1270N disease-causingCFTR-RD:1
Suspicion of CF:1
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 - -
Exon 23 c.3824A>T VUS - -
Exon 23 c.3837G>A L1279L (3969G/A) VUS - -
Exon 23 c.3838C>T Q1280X disease-causing - -
Exon 23 c.3844T>C W1282R VUS - -
Exon 23 c.3846G>A W1282X disease-causingAsymptomatic:1
CFTR-RD:1
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 - -
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 - -
Exon 23 c.3854C>T VUS - -
Exon 23 c.3857T>C F1286S disease-causing - -
Exon 23 c.3868C>A P1290T VUS - -
Exon 23 c.3870A>G P1290P (4002A/G) non disease-causingAsymptomatic:2
CFTR-RD:2
Suspicion of CF: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 - -
Intron 23 c.3873+1G>A 4005+1G>A disease-causingSuspicion of CF:1
- AG: 0.00 (28)
AL: 0.00 (-30)
DG: 0.07 (28)
DL: 0.98 (-1)
Intron 23 c.3874-1G>A disease-causing - -
Intron 23 c.3874-4A>G 4006-4A>G VUS - -
Intron 23 c.3874-14C>G 4006- 14C- >G VUS - -
Intron 23 c.3874-71A>G VUS - -
Intron 23 c.3873+112A>C VUS - -
Intron 23 c.3873+117T>G not reportedAsymptomatic: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 reportedCF: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 - -
Intron 23 c.3874-172C>G VUS - -
Intron 23 c.3874-200G>A 4006-200G/A non disease-causingAsymptomatic:10
CF:7
CFTR-RD:8
Infertility:1
Pending (NBS):8
Suspicion of CF:14
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 reportedCFTR-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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedCFTR-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 reportedSuspicion 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 reportedCFTR-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 reportedSuspicion 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 reportedCFTR-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 reportedPending (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 reportedAsymptomatic: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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic:1
- AG: 0.00 (-25)
AL: 0.00 (25)
DG: 0.00 (3)
DL: 0.00 (-1)
Intron 23 c.3874-3538A>G not reportedAsymptomatic:1
- AG: 0.00 (-39)
AL: 0.00 (2)
DG: 0.00 (-9)
DL: 0.00 (-7)
Intron 23 c.3874-3564A>G not reportedAsymptomatic: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 reportedSuspicion 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-causingCF: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 reportedSuspicion 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 reportedSuspicion 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 reportedSuspicion 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 reportedAsymptomatic: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 - -
Exon 24 c.3897A>G T1299T (4029A/G) non disease-causing - -
Exon 24 c.3907A>C N1303H VUS - -
Exon 24 c.3908A>T N1303I disease-causing - -
Exon 24 c.3909C>G N1303K disease-causingAsymptomatic:3
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 - -
Exon 24 c.3923A>C VUS - -
Exon 24 c.3927G>T Q1309H VUS - -
Exon 24 c.3935A>G D1312G VUS - -
Exon 24 c.3937C>A Q1313K VUS - -
Exon 24 c.3937C>T Q1313X disease-causing - -
Exon 24 c.3953T>C V1318A VUS - -
Intron 24 c.3963+2T>A 4095+ 2T- >A disease-causing - -
Intron 24 c.3964-3C>G 4096-3C>G disease-causing - -
Intron 24 c.3963+47A>T VUS - -
Intron 24 c.3963+69A>G non disease-causingCFTR-RD:1
- AG: 0.00 (41)
AL: 0.00 (12)
DG: 0.00 (-36)
DL: 0.00 (26)
Intron 24 c.3964-93T>G VUS - -
Intron 24 c.3963+307G>A not reportedAsymptomatic: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 reportedCF: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedCFTR-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-causingAsymptomatic:11
CF:8
CFTR-RD:9
Infertility:1
Pending (NBS):10
Suspicion of CF:17
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 reportedSuspicion 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 reportedPending (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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCFTR-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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic:2
- AG: 0.00 (-35)
AL: 0.00 (-50)
DG: 0.00 (22)
DL: 0.00 (-35)
Intron 24 c.3963+4382C>T not reportedSuspicion 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 reportedSuspicion 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 reportedCFTR-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 reportedCF: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 reportedCF: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedCF: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 reportedPending (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 reportedSuspicion 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 reportedAsymptomatic: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 reportedSuspicion 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 reportedCFTR-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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedSuspicion 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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedInfertility:1
- AG: 0.00 (-21)
AL: 0.00 (14)
DG: 0.00 (13)
DL: 0.00 (14)
Intron 24 c.3964-5308G>A not reportedAsymptomatic: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 - -
Exon 25 c.3983T>C VUS - -
Exon 25 c.4004T>C L1335P disease-causing - -
Exon 25 c.4015C>T L1339F VUS - -
Exon 25 c.4027G>A VUS - -
Exon 25 c.4046G>A G1349D disease-causing - -
Exon 25 c.4051A>T K1351X disease-causing - -
Exon 25 c.4054C>T Q1352X disease-causing - -
Exon 25 c.4056G>C Q1352H(G>C) disease-causing - -
Exon 25 c.4056G>T Q1352H(G>T) VUS - -
Exon 25 c.4061T>C VUS - -
Exon 25 c.4064G>T VUS - -
Exon 25 c.4085G>A VUS - -
Exon 25 c.4091C>T A1364V VUS - -
Exon 25 c.4097T>A I1366N disease-causing - -
Exon 25 c.4097T>C I1366T disease-causing - -
Exon 25 c.4124A>C H1375P disease-causing - -
Exon 25 c.4124A>G VUS - -
Exon 25 c.4127T>C VUS - -
Exon 25 c.4129G>C D1377H disease-causing - -
Intron 25 c.4136+5G>A disease-causing - -
Intron 25 c.4137-89A>G VUS - -
Intron 25 c.4137-94T>A VUS - -
Intron 25 c.4136+192G>A not reportedSuspicion 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 reportedAsymptomatic: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 - -
Intron 25 c.4137-139G>A 4269-139G/A non disease-causingAsymptomatic:11
CF:8
CFTR-RD:9
Infertility:1
Pending (NBS):10
Suspicion of CF:17
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 - -
Exon 26 c.4144C>T Q1382X disease-causing - -
Exon 26 c.4147A>G VUS - -
Exon 26 c.4168C>T Q1390X disease-causing - -
Exon 26 c.4186A>C T1396P VUS - -
Exon 26 c.4188A>G T1396T (4320A/G) VUS - -
Exon 26 c.4202A>G E1401G VUS - -
Exon 26 c.4220T>C M1407T VUS - -
Exon 26 c.4224G>A 4356G/A VUS - -
Exon 26 c.4225G>A E1409K VUS - -
Exon 26 c.4231C>T Q1411X disease-causing - -
Exon 26 c.4234C>T Q1412X disease-causing - -
Intron 26 c.4242+1G>A 4374+1G>A disease-causing - -
Intron 26 c.4243-2A>C VUS - -
Intron 26 c.4242+13A>G 4374+13A/G non disease-causingSuspicion of CF:1
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 - -
Intron 26 c.4242+67G>A not reportedCF: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 - -
Intron 26 c.4243-20A>G VUS - -
Intron 26 c.4243-35del 4375-36delT VUS - -
Intron 26 c.4242+198T>C not reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 reportedAsymptomatic: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 - -
Exon 27 c.4272C>T Y1424Y (4404C/T) non disease-causingSuspicion of CF:2
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 - -
Exon 27 c.4276T>C S1426P disease-causing - -
Exon 27 c.4277C>T S1426F VUS - -
Exon 27 c.4297G>A VUS - -
Exon 27 c.4333G>A D1445N VUS - -
Exon 27 c.4357C>T R1453W VUS - -
Exon 27 c.4364C>G S1455X disease-causing - -
Exon 27 c.4389G>A Q1463Q (4521G/A) non disease-causingAsymptomatic:11
CF:8
CFTR-RD:9
Infertility:1
Pending (NBS):10
Suspicion of CF:17
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 - -
Exon 27 c.4426C>T Q1476X disease-causing - -
Exon 27 c.4439T>C L1480P VUS - -
UTR 3 c.*1251C>T VUS - -
UTR 3 c.*133T>A VUS - -
UTR 3 c.*2G>C VUS - -
UTR 3 c.*47G>T VUS - -
UTR 3 c.4442A>G VUS - -





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