Figure 2: Minigene assay. (A) Expression of FANCLΔ4 and FANCL isoforms obtained from 8 different plasmids (constructs) containing specific genomic variants. (B) Based on data observed in (A), FANCLΔ4/FANCL expression ratios are normalized in respect to the wildtype (WT) plasmid. (C) And (D) show the result of the reverse mutagenesis on the c.217-11T/C variation (rs79588315) to reestablish the WT sequence illustrated in copy number and FANCLΔ4/FANCL expression ratios, respectively.