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. 2026 Jan 17;37(1):102825. doi: 10.1016/j.omtn.2025.102825

Figure 1.

Figure 1

Variant proportions by type

Created using data from the Human Gene Mutation Database, a pie chart indicating the proportion of all listed mutations attributed to each type of variant, in descending order of frequency. Nonsense variants, containing a PTC, are indicated to make up 10% of listed, pathogenic variants.