Workflow from Scientific Research

Pedigree, IGV view, and Sanger traces for Family 7. In addition to the c.700_723delins, p.R234_P241delinsLTS variant, Sanger traces for the nearby c.778G>A:p.G260R variant are shown. Allele 1 in LAT1763 is shown to be WT for the c.700_723 locus, while containing the c.778G>A variant. Allele 2 was shown to contain the c.700_723delins, p.R234_P241delinsLTS variant while being WT at the c.778G>A locus, confirming these variant alleles are in a trans configuration.

DOI