| 
                  NM_005551.5:c.748C>T
                    
                              MANE Select
                      
               | 
              
                  
                    NP_005542.1:p.Arg250Trp
                      
                  
               | 
            
            
              | 
                  ENST00000325321.8:c.748C>T
                    
                        MANE Select
                      
               | 
              
                  
                    ENSP00000313581.2:p.Arg250Trp
                      
                  
               | 
            
            
              | 
                  NM_001002231.2:c.*113C>T
               | 
              
                  
                    NP_001002231.1:n.*113C>T
                  
               | 
            
            
              | 
                  NM_001002231.3:c.*113C>T
               | 
              
                  
                    NP_001002231.1:n.*113C>T
                  
               | 
            
            
              | 
                  NM_001256080.1:c.442C>T
               | 
              
                  
                    NP_001243009.1:p.Arg148Trp
                      
                  
               | 
            
            
              | 
                  NM_001256080.2:c.442C>T
               | 
              
                  
                    NP_001243009.1:p.Arg148Trp
                      
                  
               | 
            
            
              | 
                  NM_005551.4:c.748C>T
               | 
              
                  
                    NP_005542.1:p.Arg250Trp
                      
                  
               | 
            
            
              | 
                  NR_045762.1:n.813C>T
               | 
              
                  
               | 
            
            
              | 
                  NR_045762.2:n.807C>T
               | 
              
                  
               | 
            
            
              | 
                  NR_045763.1:n.875C>T
               | 
              
                  
               | 
            
            
              | 
                  NR_045763.2:n.869C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000325321.7:c.748C>T
               | 
              
                  
                    ENSP00000313581.2:p.Arg250Trp
                      
                  
               | 
            
            
              | 
                  ENST00000358049.8:c.*113C>T
               | 
              
                  
                    ENSP00000350748.3:n.*113C>T
                  
               | 
            
            
              | 
                  ENST00000391810.6:c.442C>T
               | 
              
                  
                    ENSP00000375686.2:p.Arg148Trp
                      
                  
               | 
            
            
              | 
                  ENST00000594174.5:c.*624C>T
               | 
              
                  
                    ENSP00000472095.1:n.*624C>T
                  
               | 
            
            
              | 
                  ENST00000595050.1:c.466C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000595173.1:n.983C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000597439.1:c.*277C>T
               | 
              
                  
                    ENSP00000471214.1:n.*277C>T
                  
               | 
            
            
              | 
                  ENST00000597461.1:n.431C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000597911.1:c.327C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000599121.5:c.*438C>T
               | 
              
                  
                    ENSP00000472499.1:n.*438C>T
                  
               | 
            
            
              | 
                  ENST00000600755.5:n.890C>T
               | 
              
                  
               | 
            
            
              | 
                  ENST00000600866.1:n.730C>T
               | 
              
                  
               | 
            
            
              | 
                  XM_006723206.1:c.835C>T
               | 
              
                  
                    XP_006723269.1:p.Arg279Trp
                      
                  
               | 
            
            
              | 
                  XM_006723208.1:c.529C>T
               | 
              
                  
                    XP_006723271.1:p.Arg177Trp
                      
                  
               | 
            
            
              | 
                  XM_011526943.1:c.843C>T
               | 
              
                  
                    XP_011525245.1:p.Thr281=
                  
               | 
            
            
              | 
                  XM_011526944.1:c.798C>T
               | 
              
                  
                    XP_011525246.1:p.Thr266=
                  
               | 
            
            
              | 
                  XM_011526949.1:c.537C>T
               | 
              
                  
                    XP_011525251.1:p.Thr179=
                  
               |