Figure 3. Number of variants in PANK2 reported pathogenic and predicted pathogenic.
A Literature B. Literature plus those predicted pathogenic in gnomAD.
The black bars indicate the number of PANK2 missense variants and the white bars indicate the number of loss of function variants. EUR is Non-Finnish European, FIN is Finnish, AFR is African, LAT is Latino, EAS is East Asian, and SAS is Southeast Asian.