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. Author manuscript; available in PMC: 2021 Dec 22.
Published in final edited form as: HGG Adv. 2021 Aug 10;2(4):100049. doi: 10.1016/j.xhgg.2021.100049

Figure 1. Recorded AHDC1 missense cases and protein sequence mutability.

Figure 1.

(A) A total of 10 individuals with de novo or suspected de novo missense mutations in AHDC1 are shown.

(B) The AHDC1 missense mutations are scored using the missense tolerance ratio score. A lower score indicates a higher intolerance to missense mutations based on sequence conservation of population controls from gnomAD.