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. 2006 Sep;8(4):499–503. doi: 10.2353/jmoldx.2006.050146

Table 1.

Mutations Identified in Sardinian Population

Mutation Chromosomes (%) Exon/intron
F508del 88 (50) 10
T338I 34 (19.31) 7
2183AA>G 10 (5.68) 13
G542X 9 (5.11) 11
c.54-5811_164+2186del-8108ins182 6 (3.4) Intron 1/intron 2
N1303K 4 (2.27) 21
G1244E 3 (1.7) 20
1706del17bp 2 (1.13) 10
3849+10KbC>T 2 (1.13) Intron19
991del5bp 2 (1.13) 6b
S912X 2 (1.13) 15
G576A 1 (0.57) 12
1717–1G>A 1 (0.57) Intron 10
621+1G>T 1 (0.57) Intron 4
G85E 1 (0.57) 3
L375F 1 (0.57) 8
4016insT 1 (0.57) 21
H1054D 1 (0.57) 17
711+3A>G 1 (0.57) Intron 5
D1270N − R74W 1 (0.57) 20–3
2184insA 1 (0.57) 13
L997F 1 (0.57) 17a
R1066H 1 (0.57) 17a
1001+3A>T 1 (0.57) Intron 6b
Defined 175 (99.4)
Undefined 1(0.57)
Total 176 (99.97)

The novel mutation detected in this study is evidenced in bold.