Figure 3. Direct sequencing analysis of the coding region of the USH2A gene. A: Left, heterozygous one base insertion mutation c.99_100insT (p.R34fs) detected in patient 073036; right, the corresponding
wild-type sequence. B: left, Sequence shows the heterozygous one base deletion mutation c.8483delC (p.S2828fs) identified in patient 073041 and
right, the corresponding wild type sequence. C: Sequence presents the heterozygous nonsense mutation c.9450G>A (p.W3150X) detected in patient 073041. D: Sequence shows the heterozygous missense mutation c.11806A>C (p.T3936P) identified in patient 073021. E: upper, Sequence presents the heterozygous splicing site mutation c.8559-2A>G identified in patient 073021, lower, the corresponding
complimentary strand sequence.