Fig. 1From: Clinical challenges in interpreting multiple pathogenic mutations in single patientsPedigree for Family 1. The arrow indicates Patient 1, the proband and index case for Family 1. Her genetic testing revealed: BAP 1: Exon 12 c.1185dupA (p.Asp396Argfs*2), pathogenic MSH6: Intron 9 c.4002-2A > G (splice acceptor), likely pathogenic. RECQL4: Exon 14 c.2296C > T (p.Gln757*), pathogenic (heterozygous). All other family members declined genetic testingBack to article page