Genename |
Variants |
BEST1(NM_001139443,bestrophin 1,604aa) |
g.11:61724418C>T,c.404C>T,p.A135V |
BEND7(NM_152751,BEN domain containing 7,468aa) |
g.10:13542069T>A,c.1A>T,p.M1L |
BEND7(NM_152751,BEN domain containing 7,468aa) |
g.10:13541909G>T,c.161C>A,p.P54Q |
BEND7(NM_152751,BEN domain containing 7,468aa) |
g.10:13541789G>A,c.281C>T,p.T94M |
BEND7(NM_152751,BEN domain containing 7,468aa) |
g.10:13534729A>T,c.563T>A,p.M188K |
BEND7(NM_152751,BEN domain containing 7,468aa) |
g.10:13534652C>T,c.640G>A,p.V214I |
BEND5(NM_024603,BEN domain containing 5,421aa) |
g.1:49224862T>C,c.455A>G,p.H152R |
BEND5(NM_024603,BEN domain containing 5,421aa) |
g.1:49224701G>A,c.616C>T,p.R206W |
BEND5(NM_024603,BEN domain containing 5,421aa) |
g.1:49201983C>T,c.1036G>A,p.V346I |
BEND4(NM_207406,BEN domain containing 4,534aa) |
g.4:42145924T>C,c.575A>G,p.N192S |
BEND4(NM_207406,BEN domain containing 4,534aa) |
g.4:42145806T>C,c.693A>G,p.I231M |
BEND4(NM_207406,BEN domain containing 4,534aa) |
g.4:42145546_42145548del,c.951_953del,p.317_318del |
BEND4(NM_207406,BEN domain containing 4,534aa) |
g.4:42127637T>C,c.1109A>G,p.Q370R |
BEND4(NM_207406,BEN domain containing 4,534aa) |
g.4:42127607G>A,c.1139C>T,p.P380L |
BEND4(NM_207406,BEN domain containing 4,534aa) |
g.4:42122301T>G,c.1157A>C,p.Q386P |
BEND4(NM_207406,BEN domain containing 4,534aa) |
g.4:42122289T>C,c.1169A>G,p.N390S |
BEND4(NM_207406,BEN domain containing 4,534aa) |
g.4:42119584G>C,c.1556C>G,p.S519C |
BEND4(NM_207406,BEN domain containing 4,534aa) |
g.4:42119545G>T,c.1595C>A,p.S532Y |
BEND3(NM_001080450,BEN domain containing 3,828aa) |
g.6:107420474A>C,c.16T>G,p.F6V |
BEND3(NM_001080450,BEN domain containing 3,828aa) |
g.6:107392066T>C,c.329A>G,p.N110S |
BEND3(NM_001080450,BEN domain containing 3,828aa) |
g.6:107391697G>C,c.698C>G,p.P233R |
BEND3(NM_001080450,BEN domain containing 3,828aa) |
g.6:107391056G>A,c.1339C>T,p.R447W |
BEND3(NM_001080450,BEN domain containing 3,828aa) |
g.6:107390134G>A,c.2261C>T,p.A754V |
BEND2(NM_153346,BEN domain containing 2,799aa) |
g.X:18234674C>G,c.205G>C,p.D69H |
BEND2(NM_153346,BEN domain containing 2,799aa) |
g.X:18231932G>A,c.338C>T,p.P113L |
BEND2(NM_153346,BEN domain containing 2,799aa) |
g.X:18230715A>C,c.462T>G,p.F154L |
BEND2(NM_153346,BEN domain containing 2,799aa) |
g.X:18221945G>A,c.583C>T,p.H195Y |
BEND2(NM_153346,BEN domain containing 2,799aa) |
g.X:18221858C>T,c.670G>A,p.G224S |