catalog






The CFTR-NGS catalog has retrieved 13 INSERTIONS, 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)
Intron 4 c.489+562_489+563insAACCCA not reported - -
Intron 4 c.489+564_489+565insAGAACCTACTCTGC not reported - -
Intron 9 c.1209+2120_1209+2121insAAG not reportedSuspicion of CF:1
0.001431 -
Intron 16 c.2657+2_2657+3insA 2789+2insA disease-causing - -
Exon 17 c.2737_2738insG 2869insG disease-causing - -
Exon 18 c.2919_2920ins121 disease-causing - -
Intron 18 c.2989-1846_2989-1845insG not reportedAsymptomatic:1
0.021518 AG: 0.00 (46)
AL: 0.00 (-30)
DG: 0.00 (46)
DL: 0.00 (23)
Intron 20 c.3367+228_3367+229insGT not reportedSuspicion of CF:1
0.000321 -
Exon 20 c.3191_3192insTTTTAAGCTTAAAAGG disease-causing - -
Intron 20 c.3367+453_3367+454insCACAGACA not reportedSuspicion of CF:1
- -
Intron 21 c.3468+1526_3468+1527insC not reportedPending (NBS):1
0.00476 AG: 0.00 (9)
AL: 0.00 (-23)
DG: 0.00 (-25)
DL: 0.00 (-35)
Intron 22 c.3718-5371_3718-5370insGCCT not reported - -
Intron 23 c.3874-3565_3874-3564insGT not reportedSuspicion of CF:1
0.008796 -





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