A retrospective study of cases diagnosed with cystic fibrosis at a single care center in Syria

Egyptian Journal of Medical Human Genetics

Table 4 CFTR pathogenic variants that were detected in the sample, its classifications, the result of sweat chloride test, and the age at diagnosis

Number of patients	The pathogenic variant on the first allele	The first pathogenic variant class	The pathogenic variant on the second allele	The second pathogenic variant class	Sweat chloride values (mmol/l)	Age at diagnosis (months)
14	W1282X	I	W1282X	I	58±42	5.3±3.8
1	W1282X	I	R1162X	I	60	3
1	R1162X	I	R1162X	I	120	2.5
1	2183AA>G	I	2183AA>G	I	50	30
1	394delTT	I	394delTT	I	57	83
1	G542X	I	G542X	I	60	42
1	W1282X	I	F508del	II	65	4
1	2183AA>G	I	N1303K	II	61	7
3	CFTRdel2-3	I	G551D	III	84±8	4±1
1	W1282X	I	R334W	IV	96	2
2	CFTRdel2-3	I	R347P	IV	28±5	7±6
1	CFTRdel2-3	I	R334W	IV	89	6
1	CFTRdel2-3	I	3849+10Kb C>T	V	25	11
5	3199 del 6/I148T	II/polymorphism	3199 del 6/I148T	II/polymorphism	61±26	7±5
31	F508del	II	F508del	II	58±25	19±35
1	F508del	II	N1303K	II	60	3
4	G85E	II	G85E	II	47±15	4±1
6	N1303K	II	N1303K	II	70±23	30±47
1	R334W	IV	R347P	IV	35	1
4	R347P	IV	R347P	IV	53±29	2.5±1
3	1898+1G>A	V	1898+1G>A	V	68±39	9±2.5
1	R334W	IV	1898+1G>A	V	100	100
2	CFTRdel2-3	I	-	-	33±00	5.5±0.3
1	N1303K	II	-	-	60	3
1	R1162X	I	-	-	55	95
2	F508del	II	-	-	45±2	10±12
1	2789+5G >A	V	-	-	85	3
1	2184delA	I	-	-	35	1
2	R334W	IV	-	-	18.5	34±37
3	G85E	II	-	-	50	2.8±0.3