Figure 3
Compound heterozygosity of a point mutation and a large exonic deletion detected by our coverage depth analysis. (a) The panel arrangement is the same as in Figure 2. (b) Point mutations detected by massively parallel sequencing (top) and confirmed by Sanger sequence analysis (bottom). (c) Diagram illustrating the trans configuration of the compound heterozygosity. The coding exons containing the point mutations in P9 and P10 are not deleted in the other mutant allele; therefore, sequencing shows heterozygous. In P11, however, the heterozygous point mutation is located in an exon that is deleted in the other allele; therefore, sequencing shows apparent homozygosity.
