CFTR- France & CFTR-NGS catalog have retrieved 28 ISOSEMANTICS, which are displayed below:



CFTR-France & CFTR-NGS Variants listing:
#Exon/intron Name (HGVS) Legacy name Class in CFTR-France Report in CFTR-NGS Report in CFTR-France MAF (GnomAD) Splicing prediction (SpliceAI)
Exon 4 c.360G>A A120A (492G/A) VUSCFTR-RD:1
- -
Exon 6 c.627A>G A209A (759A/G) VUSCF:2
CF:3
CFTR-RD:1
Pending:2
2.1e-05 AG: 0.02 (-47)
AL: 0.00 (34)
DG: 0.00 (33)
DL: 0.00 (-10)
Exon 8 c.1116G>A VUSCFTR-RD:1
- -
Exon 9 c.1209G>A E403E (1341G/A) disease-causingCF:2
- -
Exon 11 c.1581A>G E527E (1713A/G) VUSCF:1
CFTR-RD:1
- -
Exon 11 c.1584G>A E528E (1716G/A) non disease-causingAsymptomatic:2
CFTR-RD:1
Suspicion of CF:3
Asymptomatic:1
CF:5
CFTR-RD:47
Fetal bowel anomalies:2
Pending:3
0.017193 AG: 0.00 (0)
AL: 0.01 (-36)
DG: 0.00 (12)
DL: 0.04 (0)
Exon 13 c.1731C>T Y577Y (1863C/T) VUS - -
Exon 14 c.1920T>C F640F (2052T/C) VUSCF:1
Pending:1
- -
Exon 14 c.2245C>T L749L (2377C/T) VUSCFTR-RD:1
- -
Exon 14 c.2259C>T S753S (2391C/T) VUSCF:1
- -
Exon 15 c.2559T>C I853I (2691T/C) VUSCFTR-RD:1
- -
Exon 15 c.2562T>C T854T (2694T/C) VUSCFTR-RD:2
- -
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
Asymptomatic:30
CF:235
CFTR-RD:445
Fetal bowel anomalies:4
Pending:63
0.429695 AG: 0.00 (0)
AL: 0.00 (10)
DG: 0.00 (0)
DL: 0.00 (-8)
Exon 15 c.2604A>G V868V (2736G/A) VUSCF:2
CFTR-RD:1
- -
Exon 17 c.2679G>T G893G (2811G/T) VUS - -
Exon 17 c.2898G>A T966T (3030G/A) non disease-causingSuspicion of CF:1
Asymptomatic:1
CF:3
CFTR-RD:8
Fetal bowel anomalies:2
Pending:1
0.008893 AG: 0.00 (11)
AL: 0.00 (-22)
DG: 0.00 (6)
DL: 0.01 (10)
Exon 18 c.2988G>A Q996Q (3120G/A) disease-causingCF:2
- -
Exon 20 c.3285A>T T1095T (3417A/T) VUSAsymptomatic:1
CF:3
CFTR-RD:4
Pending:1
- -
Exon 20 c.3288G>A VUSCFTR-RD:1
- -
Exon 21 c.3468G>A L1156L (3600G/A) disease-causingCF:3
CFTR-RD:2
- -
Exon 22 c.3681A>G L1227L (3813A/G) VUSCFTR-RD:1
- -
Exon 23 c.3837G>A L1279L (3969G/A) VUS - -
Exon 23 c.3870A>G P1290P (4002A/G) non disease-causingAsymptomatic:2
CFTR-RD:2
Suspicion of CF:1
Asymptomatic:2
CF:14
CFTR-RD:31
Pending:1
0.07428 AG: 0.00 (3)
AL: 0.00 (-26)
DG: 0.00 (32)
DL: 0.02 (3)
Exon 24 c.3897A>G T1299T (4029A/G) non disease-causingAsymptomatic:1
CF:6
CFTR-RD:5
- -
Exon 26 c.4188A>G T1396T (4320A/G) VUSCF:1
- -
Exon 26 c.4224G>A 4356G/A VUSCF:1
- -
Exon 27 c.4272C>T Y1424Y (4404C/T) non disease-causingSuspicion of CF:2
Asymptomatic:1
CF:9
CFTR-RD:8
0.006527 AG: 0.02 (-22)
AL: 0.00 (-29)
DG: 0.00 (-12)
DL: 0.00 (-4)
Exon 27 c.4389G>A Q1463Q (4521G/A) non disease-causingAsymptomatic:11
CF:8
CFTR-RD:9
Infertility:1
Pending (NBS):10
Suspicion of CF:17
Asymptomatic:27
CF:127
CFTR-RD:308
Pending:43
0.234066 AG: 0.00 (17)
AL: 0.00 (1)
DG: 0.00 (-23)
DL: 0.00 (33)





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