Figure 2

The paired-end mapping read-track displaying reads and detected variants in the second patient. The potentially important findings from WES data analysis is presented in the CLC genomics workbench software. (A) hg38 sequence track with WES mapped reads track; (B) hg38 sequence track with RNA-Seq mapped reads track; (C) Gene expression track; (D) gene, mRNA and CDS tracks; (E) the variant genomic coordinate on hg38 and the variant name. P2: patient No.2.