Fig. 6. Mutational spectra in recent medulloblastoma predisposition genes.

Upper diagram shows the ELP1 gene, with the upper tract representing the loss-of-function variants found in gnomAD v2.1 and the lower tract showing the loss-of-function variants found among patients with medulloblastoma by Waszak et al.⁷³. Variants are expanded in the upper tract when they overlap with variants in the lower tract. Lower diagram shows the GPR161 gene with the upper tract representing the loss-of-function variants found in gnomAD v2.1 and the lower tract showing the loss-of-function variants found among patients with medulloblastoma. Variants are expanded in the upper tract when they overlap with variants in the lower tract. Variant color; orange, nonsense, purple, splice, red, frameshift. Source data are provided as a Source Data file.