Fig. 3

Pathogenic variants allele distribution. A Top 20 pathogenic variants in gnomAD. B Frequency of the pathogenic/likely pathogenic variants with population specificity in gnomAD. AAA, African/African American. AJ, Ashkenazi Jewish. EA, East Asian. ENF, European (non-Finnish). FIN, Finnish. LAA, Latino/Admixed American. SA, South Asian. C SMPD1 mutation allele frequency in two data sources. Huabiao, the public project database of whole exomes of the Chinese Han. EA, data from east Asia of the gnomAD