Figure 5 | Scientific Reports

Figure 5

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

Figure 5

Mosaicism in multiple tissue types. Massively parallel sequencing reads visualized in the Integrative Genomics Viewer (IGV), showing the RHO variant c.404G > C p.(Arg135Pro) in a mosaic state in multiple tissues. (A) blood sample 1: variant allele frequency (VAF) of 31,97,279%. (B) blood sample 2: VAF of 30,4457%. (C) buccal mucosa sample 1: VAF of 40,9042%. (D) buccal mucosa sample 2: VAF of 25,0641%. (E) Sample of hair follicle: VAF of 41, 72,123%.

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