Figure 2. Novel mutations in MYOC.
A: At the top, the sequence chromatogram is showing the
heterozygous mutation, c.24C>A, which causes the codon change UGC to
UGA, resulting in C8X; at the bottom, the chromatograph shows the wild
type sequence. B: The top sequence chromatogram shows the
heterozygous mutation, c.1001T>C, which is causing codon change CUU
to CCU, resulting in L334P; the bottom chromatograph illustrates the
wild type sequence.