Genetic segregation analysis and in silico mutation prediction analyses of SNP variants identified by exome sequencing. Only the homozygous THPO variant (c.CGT>TGT;p.Arg17C) segregated with the aplastic anemia phenotype in the proband (II.1) and her asymptomatic affected brother (II.2) as shown in A and B. Amino acid substitution is highlighted in green under the affected codon.