Table 2. Identified mutations in USH2A gene.

Family	Proband	Phen otype	Mutation	Type	Amino acid	Reported
F1	III-2	+	c.10450C>T	hetero	R3484X	Reported
			c.9469C>T	hetero	Q3157X	Reported
F2	III-2	+	c.5581G>A	hetero	G1861S	Novel
			c.15427C>T	hetero	R5143C	Novel
			c.8602delA	hetero	frameshift	Novel
F3	III-15	+	c.538T>T	hetero	S180P	Reported
			IVS48+1G>A	hetero	Splice site	Novel
F4	III-4	+	c.8212G>A	hetero	D2738N	Novel
			c.5528C>T	hetero	P1843L	Novel
F5	II-4	+	c.4383delT	homo	frameshift	Novel