Figure 1.
Mosaic missense variant in ACTR3B identified in blood and tissue of twin 2-1. IGV reads show that the variant c.1066G>A, p.Gly356Arg in ACTR3B has an allele frequency of about 39% in uterine tissue and an allele frequency of about 11% in blood of the affected twin 2-1, while blood of twin 2-2 only has 1 supporting read.
