Figure 4 | Scientific Reports

Figure 4

From: Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Figure 4

Genomic testing. (Left) Whole exome sequencing reads visualized in the Integrative Genomics Viewer (IGV), showing the RHO variant c.404G > C p.(Arg135Pro) in a mosaic state (variant allele frequency [VAF] of ~ 21%) in the mother (II.1) (top). Sanger sequencing confirmation of the mosaic variant is shown at the bottom. (Right) IGV view of the RHO variant c.404G > C p.(Arg135Pro) in a heterozygous state (VAF: ~ 47%) in the son (III.1) (top). Sanger sequencing confirmation of the heterozygous variant is shown at the bottom (III.1).

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