Table 4.

Frequencies of the sequence variations identified in the general population from Languedoc-Roussillon.

Name	Nucleotide change	Number of alleles	Number of chromosomes tested	Allele frequencies in % (95 % CI)	Carrier frequencies in % (95 % CI)
M34T	101T>C	81	7 032	1.15 (0.92–1.44)	2.3 (1.83–2.86)
35delG	c.35delG	96	12 586	0.76 (0.62–0.93)	1.53 (1.24–1.85)
R127H	380G>A	7	1 056	0.66 (0.29–1.42)	1.33 (0.58–2.82)
V37I	109G>A	30	7 032	0.43 (0.29–0.62)	0.85 (0.58–1.24)
V153I	457G>A	4	1 056	0.38 (0.12–1.04)	0.76 (0.14–1.79)
F83L	249C>G	3	1 056	0.28 (0.07–0.90)	0.57 (0.14–1.79)
V27I	79G>A	10	7 032	0.14 (0.07–0.27)	0.28 (0.14–0.58)
E114G	341A>G	1	1 056	0.09 (0.005–0.61)	0.19 (0.009–1.22)
DelE120	358-360delGAG	1	1 056	0.09 (0.005–0.61)	0.19 (0.009–1.22)
G160S	478G>A	1	1 056	0.09 (0.005–0.61)	0.19 (0.009–1.22)
D159D*	477C>T	1	1 056	0.09 (0.005–0.61)	0.19 (0.009–1.22)
W24X	71G>A	5	7 032	0.07 (0.03–0.18)	0.14 (0.06–0.36)
E47X	139G>T	4	7 032	0.06 (0.02–0.16)	0.11 (0.04–0.32)
Y68C*	203A>G	3	7 032	0.04 (0.01–0.14)	0.09 (0.02–0.28)
W44X	132G>A	1	7 032	0.014 (0.007–0.092)	0.03 (0.01–0.18)
R32H	95G>A	1	7 032	0.014 (0.007–0.092)	0.03 (0.01–0.18)
S19T	56G>C	1	7 032	0.014 (0.007–0.092)	0.03 (0.01–0.18)
IVS1-7G>A*		1	7 032	0.014 (0.007–0.092)	0.03 (0.01–0.18)
G4D*	11G>A	1	7 032	0.014 (0.007–0.092)	0.03 (0.01–0.18)
Q7Q*	21G>A	1	7 032	0.014 (0.007–0.092)	0.03 (0.01–0.18)
T26T*	78C>T	1	7 032	0.014 (0.007–0.092)	0.03 (0.01–0.18)
H67R*	200A>G	1	7 032	0.014 (0.007–0.092)	0.03 (0.01–0.18)

*: novel sequence changes.