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. 2021 Nov 8;13(12):e14397. doi: 10.15252/emmm.202114397

Figure EV1. Exome sequence analysis.

Figure EV1

  1. Table detailing the homozygous regions identified in the two affected first cousin individuals.
  2. Read depth image from exome sequence data from the affected individual (II‐1) demonstrating absences of sequence reads encompassing exons 2 and 3 of UQCRH (upper panel) and evidence of sequence reads for both exons in an unrelated control (lower panel).
  3. Log2 ratio SNP microarray results show the absence of signal for a single probe between exons two and three of UQCRH (indicated by a red circle) in an affected individual (II‐1) upper track and evidence of two copies of this probe in their unaffected sibling (II‐2) in the lower track.