Table 2. Variations in GJB2, GJB3, GJB6, SLC26A4 and SLC26A5 genes identified in the subjects.

Gene	Nucleotide change	Amino acid change	Domain	Mutation type	Category	Patients (n)			Controls (n)
						Homo	Hetero	Allele frequency(%)	Homo	Hetero	Allele frequency(%)
GJB2	79G>A	V27I	TM1	Missense	Polymorphism	4	10	6.67	13	20	17.04
	79G>A+341A>G	V27I+E114G	TM1+IC2	Missense	Undefined	3	2	2.96	1	1	1.11
	79G>A+109G>A	V27I+V37I	TM1	Missense	Undefined	0	1	0.37	0	0	0.00
	109G>A	V37I	TM1	Missense	Undefined	2	5	3.33	0	3	1.11
	101T>C	M34T	TM1	Missense	Polymorphism	0	1	0.37	0	0	0.00
	176-191del16	176-191del16	EC1	Deletion	Pathogenic	0	1	0.37	0	1	0.37
	235delC	235delC	TM2	Deletion	Pathogenic	18	19	20.37	0	2	0.74
	299-300delAT	299-300delAT	IC2	Deletion	Pathogenic	0	6	2.22	0	1	0.37
	341A>G	E114G	IC2	Missense	Polymorphism	3	7	4.81	1	5	2.59
	368C>A	T123N	IC2	Missense	Pathogenic	1	1	1.11	0	1	0.37
	504insAAGG	504insAAGG	EC2	Insertion	Pathogenic	0	2	0.74	0	0	0.00
	608TC>AA	I203K	TM4	Missense	Polymorphism	0	2	0.74	0	8	2.96
GJB3	357C>T	N119N	IC2	Samesense	Polymorphism	0	2	0.74	0	0	0.00
	866G>A		3′UTR	Missense	Polymorphism	0	6	2.22	0	1	0.37
GJB6	232 kb del	Frameshift	TM3	Deletion	Pathogenic	4	1	3.33	0	0	0.00
SLC26A4	IVS7-2A>G	Splice site	intravening	Missense	Pathogenic	7	11	9.26	0	0	0.00
	IVS7-2A>G+	Splice site + H723R	sequence7	Missense	Pathogenic	0	2	0.74	0	0	0.00
	2168A>G		intravening
	2167 C>G	H723D	sequence7 STAS	Missense	Pathogenic	0	1	0.37	0	0	0.00
SLC26A5	IVS2-2A>G	Splice site	intravening sequence2	Missense	Pathogenic	0	0	0.00	0	0	0.00

UTR: untranslated region; IC: intracellular; TM: transmembrane; EC: extracellular; STAS: sulfate transporter and anti-sigma antagonist