Fig. 2.

Identification of a small fraction of ABO*A1.02 in dizygotic twins (patient 2, A; patient 3, B) with the major genotype ABO*B.01/O.01.02. The black arrows indicate three variants (c.261 G, c.297A, and c.467C>T) located on ABO*A1.02. The VAFs of c.297A, c.467C>T unique to ABO*A1.02 were as follows: c.297A: 5.8% for patient 2 (47 of 809 reads) and 3.8% for patient 3 (35 of 918 reads); c.467C>T: 4.8% for patient 2 (34 of 709 reads) and 3.2% for patient 3 (27 of 851 reads). The red boxes indicate that c.297A is in cis with c.261 G. *c.261 G has no genomic coordinate on hg19, as the O allele containing c.261delG is used as a reference on hg19. Therefore, the A or B allele containing c.261 G appears to have an insertion (chr9:136132908_136132909insC), whereas the O allele containing c.261delG appears to have no variant.