Fig. 6
From: Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma
Germline heterozygous mutations in the proband and pedigree screening. A. a. FANCI (chr15.exon4:c.C257T:p.A86V); b. FANCI (chr15.exon22:c.G2225C:p.C742S); c. FANCJ/BRIP1 (chr17.exon19:c.T2755C:p.S919P), d. FANCA (chr16.exon9:c.A796G:p.T266A); e. FAN1 (chr15.exon2:c.G 698A:p.G233E) (corresponding non-tumor liver tissue). B. Pedigree map: the proband’s parents died from cardiovascular and cerebrovascular diseases; there was no obvious Fanconi’s anemia disease in the proband’s offspring and brothers. C. Siblings A and B, FAN1 (exon2:c.G698A:p.G233E) (blood)