NPPA and Schnyder corneal dystrophy: In two Brs patients, we first found the heterozygous p.R882X (Clinic/ACMG = VUS/VUS, No.1, VT, refused ICD therapy) of the NEBL gene (at the rs151012132 locus) and p.R107X (Clinic/ACMG = -/LP, No.3, VT, family history of SCD, refused ICD therapy) of the NPPA gene (Table 3), respectively, as truncating mutations, which were absent from or found with MAF (minor allele frequency) < 0.001 in the 1000genomes population.