We also noted wide variation across genes in the fractional contribution of missense versus LoF variants to the P/LP category (Figures 5E and S4D). Some genes have exclusively missense mutations (ACTG1, PRPS1, COCH [MIM: 603196], and AIFM1) while other genes were enriched in LoF mutations (TCOF1, LOXHD1 [MIM: 613072], ADGRV1, EYA1, and PCDH15). A more detailed analysis of the different types of mutations within the LoF group revealed greater variability in the fractions of nonsense, splice-site, and frameshift indels across genes (Figures 5E and S4D). For example, the majority of LoF mutations in LOXHD1 are nonsense, whereas for COL11A1 (MIM: 120280) they are splice sites.