Reduced allelic expression of GATA2 in MonoMAC patients. (A) Genomic vs cDNA GATA2 sequence for patients 23.I.1, 7.I.1, 29.I.1, 28.I.1, and a healthy control. Shown is a portion of the transcript in which the patient is heterozygous at the genomic level with reduced or absent expression of 1 allele by full-length cDNA sequence. Y, S refer to base calls of mixed nucleotide bases at a single site, C/T and C/G, respectively. (B) Quantitation of relative peak heights of patient’s mutant allele as a percentage of the combined peak height at that site.