Similar patterns of germline variants in USP9X in females with congenital anomalies and developmental delay and somatic mutations in leukemia samples from males and females. (A) Germline SVs in USP9X. The intragenic deletion reported here is highlighted. (B) Sequence variants in USP9X previously reported in female patients. Nonsense variants are shown in purple, frameshift in yellow, missense in red, inframe deletions in blue and splice site alterations in green. (C) Somatic mutations in USP9X previously reported in patients with B-ALL. Mutation type denoted by the same colors.