GENE	LOCUS or SYNDROME	AMINO ACID CHANGE	NUCLEOTIDE CHANGE	EXON	ETHNICITY (Number of families)	REFERENCES
EYA1	Brachiooto Syndrome	99	297delCCGTACGG	exon 4	N/A (1)	Vincent 1997
		292	870insGT	exon 9	N/A (1)	Vincent 1997
	Brachiootorenal Syndrome	130	387insT	exon 5	N/A (1)	Rickard 2000
		Y244X	732C>A	exon 8	N/A (1)	Rickard 2000
			755insC	exon 8	N/A (1)	Abdelhak 1997a
		R261X	781C>T	exon 8	Caucasian (1)	Kumar 1998
		R265X	790C>T	exon 8	N/A (2)	Rickard 2000
		R275X	823C>T	exon 8	N/A (1)	Abdelhak 1997a
			IVS8-1G>A		N/A (1)	Rickard 2000
			del 5.6 kb	in8-ex9	N/A (1)	Abdelhak 1997b
			insAlu seq.	exon 10	N/A (1)	Abdelhak 1997b
			IVS10+1G>T		N/A (1)	Rickard 2000
			del 5.8-7 kb	exon 11-15	N/A (1)	Abdelhak 1997a
			del 20-37 kb	exon 11-16	N/A (1)	Abdelhak 1997b
			1042 inv. 23bp	exon 11	N/A (1)	Rickard 2000
		416	1251delTinsCC	exon 12	N/A (1)	Abdelhak 1997a
		G393S	1325G>A	exon 12	Japanese (1)	Azuma 2000
		R407Q	G>A	exon 12	N/A (1)	Kumar 1997
			1359insC	exon 13	N/A (1)	Abdelhak 1997a
		S454P	1360T>C	exon 13	N/A (1); N/A (1)	Abdelhak 1997b; Kumar 1997
		457	1372delTinsAGAGC	exon 13	N/A (1); N/A (1)	Abdelhak 1997a; Rickard 2000
			IVS14+2T>G		N/A (1); N/A (1)	Abdelhak 1997a; Rickard 2000
		L472R	1414T>G	exon 14	N/A (1)	Abdelhak 1997b
		503	1501delAAAG	exon 15	Caucasian (1)	Kumar 1998
			1555insTTGT	exon 15	N/A (1)	Abdelhak 1997a
		530	1592delC	exon 15	Caucasian (1)	Kumar 1998
			IVS15+5G>C		N/A (1)	Abdelhak 1997b
		L549P	1649T>C	exon 16	N/A (1)	Rickard 2000
		X559Y	1680A>C	exon 16	N/A (1)	Rickard 2000
	Iris Anomaly	E330K	1136G>A	exon 10	Japansese (1)	Azuma 2000
	Peters' anomaly with cataracts	R514G	1688A>G	exon 15	Japanese (1)	Azuma 2000