| Genename | Variants |
|---|---|
| BEX1(NM_018476,brain expressed, X-linked 1,125aa) | g.X:102318130C>G,c.73G>C,p.E25Q |
| BEX1(NM_018476,brain expressed, X-linked 1,125aa) | g.X:102318089C>G,c.114G>C,p.L38F |
| BET1L(NM_016526,Bet1 golgi vesicular membrane trafficking protein-like,102aa) | g.11:205559A>G,c.220T>C,p.C74R |
| BEST4(NM_153274,bestrophin 4,473aa) | g.1:45253091C>T,c.200G>A,p.R67Q |
| BEST4(NM_153274,bestrophin 4,473aa) | g.1:45252159T>C,c.457A>G,p.T153A |
| BEST4(NM_153274,bestrophin 4,473aa) | g.1:45250007C>G,c.1297G>C,p.V433L |
| BEST3(NM_032735,bestrophin 3,668aa) | g.12:70091493T>C,c.86A>G,p.Y29C |
| BEST3(NM_032735,bestrophin 3,668aa) | g.12:70091452A>G,c.127T>C,p.Y43H |
| BEST3(NM_032735,bestrophin 3,668aa) | g.12:70087477G>T,c.458C>A,p.T153K |
| BEST3(NM_032735,bestrophin 3,668aa) | g.12:70065214T>G,c.1094A>C,p.Q365P |
| BEST3(NM_032735,bestrophin 3,668aa) | g.12:70048829T>C,c.1865A>G,p.E622G |
| BEST3(NM_032735,bestrophin 3,668aa) | g.12:70048824A>T,c.1870T>A,p.S624T |
| BEST2(NM_017682,bestrophin 2,509aa) | g.19:12868839C>G,c.1478C>G,p.A493G |
| BEST2(NM_017682,bestrophin 2,509aa) | g.19:12868805A>G,c.1444A>G,p.S482G |
| BEST2(NM_017682,bestrophin 2,509aa) | g.19:12868577G>C,c.1216G>C,p.A406P |
| BEST2(NM_017682,bestrophin 2,509aa) | g.19:12867052C>T,c.1046C>T,p.A349V |
| BEST2(NM_017682,bestrophin 2,509aa) | g.19:12864136A>G,c.215A>G,p.Y72C |
| BEST2(NM_017682,bestrophin 2,509aa) | g.19:12863429G>A,c.23G>A,p.R8Q |
| BEST1(NM_001139443,bestrophin 1,604aa) | g.11:61730553T>C,c.1747T>C,p.S583P |
| BEST1(NM_001139443,bestrophin 1,604aa) | g.11:61730485T>C,c.1679T>C,p.L560P |
| BEST1(NM_001139443,bestrophin 1,604aa) | g.11:61730184G>A,c.1378G>A,p.D460N |
| BEST1(NM_001139443,bestrophin 1,604aa) | g.11:61730145T>C,c.1339T>C,p.S447P |
| BEST1(NM_001139443,bestrophin 1,604aa) | g.11:61730100G>A,c.1294G>A,p.V432I |
| BEST1(NM_001139443,bestrophin 1,604aa) | g.11:61727485C>T,c.890C>T,p.A297V |
| BEST1(NM_001139443,bestrophin 1,604aa) | g.11:61727364G>A,c.769G>A,p.V257M |
| BEST1(NM_001139443,bestrophin 1,604aa) | g.11:61725666C>T,c.583C>T,p.R195W |
| BEST1(NM_001139443,bestrophin 1,604aa) | g.11:61725631C>T,c.548C>T,p.A183V |
| BEST1(NM_001139443,bestrophin 1,604aa) | g.11:61724458G>A,c.444G>A,p.Q148Q |