Figure 4.
Functional consequences of CHM1 heterozygous variants not in repetitive sequence (HNR variants). Approximately 97% of HNR variants are intergenic or intronic. Of the remaining 3% of other variants, ∼48% are in the 3′ or 5′ UTR, 17% are silent, and 35% are coding (missense, nonsense, essential splice site).
