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Two SMCHD1 variants in trans in Rf385. Sanger sequence tracks from Rf385 family members showing that the two variants are located in trans. Individuals 385–203 and 385–206 carry both SMCHD1 variants (c.2941T>G and c.5596C>G), both indicated with an arrow. Individual 385–101 carries only the SMCHD1 variant in exon 24. Individual 385–102 carries only the SMCHD1 variant in exon 45. Individual 385–202 carries the reference nucleotide for both variants.
