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Table 2 Loss-of-function mutations in candidate genes

From: Exome-based investigation of the genetic basis of human pigmentary glaucoma

     PDS Cohort Normal Controls   gnomAD
v2.1.1
   Loss of function mutation   n = 198 n = 359   European (non-Finnish)
Gene SNP ID Mutation Encoded protein Instances Genotype frequency Instances Genotype frequency P-value Genotype frequency
LYST NA NM_001301365.1:c.8501C > A p.Ser2834Ter 1 0.51% 0 0 0.36 0%
TYRP1 rs749735228 NM_00550.3:c.410_413dupGTAA p.Glu139Ter 1 0.51% 0 0 0.36 0.0017%
GPNMB rs758729806 NM_002510.3: c.310_323delAGATGCCAAAAGGA p.Lys107TrpfsTer6 0 0 1 0.28% > 0.99 0.16%