| HGVS (amino-acid) | Matching Registered Transcripts | 
|---|---|
| NP_001364226.1:p.Val250Ile | 
                     
                       CA172316
                       
                    
                        NM_001377297.1:c.748G>A
                       
                    
                       CA2573146242
                       
              
                        NM_001377297.1:c.747_748delinsAA
                       
                     |