GENE	LOCUS or SYNDROME	AMINO ACID CHANGE	NUCLEOTIDE CHANGE	EXON	ETHNICITY (Number of families)	REFERENCES
GJB3	DFNA2	R180X	538C>T		Chinese (1)	Xia 1998
		E183K	547G>A		Chinese (1)	Xia 1998
	Recessive Deafness	141delI	423delATT		Chinese (2)	Liu 2000
		I141V	423A>G		Chinese (2)	Liu 2000
	Neuropathy and Hearing Impairment	R32W	1227C>T	exon 2	Spanish (1)	Lopez-Bigas 2001*
			*Mutation was also found in some controls
			1610G>A	exon 2	Spanish (1)	Lopez-Bigas 2001
			1700C>T	exon 2	Spanish (1)	Lopez-Bigas 2001
		V200I	1731G>A	exon 2	Spanish (1)	Lopez-Bigas 2001
	Erythrokeratodermia Variabilis	G12R	34G>C		Swiss (1)	Richard 1998
		G12D	35G>A		European (1)	Richard 1998
		R32W	1227C>T		N/A (1)	Kelsell 2000
		L34P	101T>C		Israeli (1)	Gottfried 2002
		R42P	125G>C		N/A (1); Italian (1)	Wilgoss 1999; Richard 2000
		C86S	256T>A		Euroepan (2)	Richard 1998
		F137L	409T>C		British (1)	Richard 2000