Table 1 Intragenic Variants in TLK2 (GenBank: NM_006852.3), Inheritance, and Presence in ExAC and gnomAD Databases Identified balanced translocation (n = 1) is not included in this table. Abbreviations: cMAF, cumulative minor allele frequency; LOF, loss-of-function a Variant reported previously1 b Recurrent de novo variant identified in two unrelated individuals