Table 2 of Iwanami, Mol Vis 2019; 25:766-779.


Table 2. Putative pathogenic missense variants.

ID Variant No. of subjects
  MAF MAF (Database) Reference ACMG
evidence ACMG class
RP KRP CT RP+KRP
Ex4-4 c.632G>A 2 1 0 0.0032 - 11 PS4, PP3 VUS
  p.(Cys211Tyr)              
Ex16-2 c.2528G>A 34 24 5 0.0693 0.0014 (1000genome) 8, 9 PS4, PM3, LP
(JV3) p.(Gly843Glu)       0.00002 (gnomAD) PP1, PP3  
            0.022 (HGVD)    
            0.017 (iJGVD)    
Ex23-1 c.3454G>A 1 0 0 0.0015 0.00011 (gnomAD) - PM2, PP3 VUS
  p.(Gly1152Arg)              
Ex32-2 c.6557G>A 6 3 0 0.0117 0.00004 (gnomAD) 3, 5, PS4, PM3, LP
(JV4) p.(Gly2186Glu)         9-11, PP1, PP3  
              31, 32    
Ex32-3 c.6563T>C 2 4 0 0.0064 - 11 PS4, PM3, LP
(JV5) p.(Ile2188Thr)           PP1  
Ex35-1 c.6844G>A 1 0 0 0.0015 0.0002 (1000genome) - PM2, PP3 VUS
  p.(Glu2282Lys)       0.000006 (gnomAD)    
Ex39-5 c.7713T>G 1 0 0 0.0011 - - PM2, PP3 VUS
  p.(Asn2571Lys)              
Ex40-1 c.7793G>A 1 1 0 0.0021 - 9, 10 PM2, PP3 VUS
  p.(Gly2598Asp)              
Ex44-3 c.8696C>G 0 1 0 0.0011 - - PM2, BP4 VUS
  p.(Ala2899Gly)              
Ex44-4 c.8759G>C 1 0 0 0.0011 - - PM2, PP3 VUS
  p.(Cys2920Ser)              
Ex44-6 c.9082G>T 1 0 0 0.0011 0.00001 (gnomAD) 12, 28 PM2, PM3, LP
  p.(Asp3028Tyr)           PP1, PP3  
Ex44-7 c.9094A>G 1 0 0 0.0011 - - PM2, BP4 VUS
  p.(Ile3032Val)              
Ex44-8 c.9164A>G 0 1 0 0.0011 0.00005 (ExAC) - PM2, PP3 VUS
  p.(Tyr3055Cys)       0.00001 (gnomAD)