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. 2023 Jul 27;110(8):1249–1265. doi: 10.1016/j.ajhg.2023.06.014

Figure 3.

Figure 3

Types of P/LP variants identified in HOP

(A) The type of variant identified for all 277 unique P/LP variants found in HOP.

(B) The type of P/LP variant identified per gene in HOP. Deletions, duplications, or insertions leading to a direct nonsense variant are categorized as nonsense. Frameshift variants contain deletions, duplications, and insertions that lead to a frameshift. Intronic variants contain deletions or substitutions that occur outside of the canonical splice sites.