Fig. 4
From: Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them
Phasing of the allelic relationships between c.4196del and c.6353G > A variants in RP1 using long-read sequencing. In long-read allele phasing, c.4196del and c.6353G > A variants are on the same allele and are trans with AluY insertion. The dotted boxes show the allelic relationships of AluY (red box) with c.4196del and c.6353G > A (blue boxes) of RP1. The position of each variant is indicated by an arrowhead.
