| 基因名 | 突变 |
|---|---|
| LCA5L(NM_152505,Leber congenital amaurosis 5-like,670aa) | g.21:40800371C>T,c.49G>A,p.G17S |
| LCA5L(NM_152505,Leber congenital amaurosis 5-like,670aa) | g.21:40800311C>T,c.109G>A,p.D37N |
| LCA5L(NM_152505,Leber congenital amaurosis 5-like,670aa) | g.21:40800130T>C,c.290A>G,p.K97R |
| LCA5L(NM_152505,Leber congenital amaurosis 5-like,670aa) | g.21:40794945G>C,c.794C>G,p.S265C |
| LCA5L(NM_152505,Leber congenital amaurosis 5-like,670aa) | g.21:40792687T>A,c.920A>T,p.Q307L |
| LCA5L(NM_152505,Leber congenital amaurosis 5-like,670aa) | g.21:40781998C>T,c.1189G>A,p.D397N |
| LCA5L(NM_152505,Leber congenital amaurosis 5-like,670aa) | g.21:40781985T>C,c.1202A>G,p.K401R |
| LCA5L(NM_152505,Leber congenital amaurosis 5-like,670aa) | g.21:40778182C>T,c.1639G>A,p.G547S |
| LCA5L(NM_152505,Leber congenital amaurosis 5-like,670aa) | g.21:40777929G>A,c.1892C>T,p.S631L |
| LCA5L(NM_152505,Leber congenital amaurosis 5-like,670aa) | g.21:40777845G>A,c.1976C>T,p.S659L |
| LBX2(NM_001009812,ladybird homeobox 2,194aa) | g.2:74729881G>T,c.106C>A,p.R36S |
| LBX2(NM_001009812,ladybird homeobox 2,194aa) | g.2:74725437C>G,c.202G>C,p.G68R |
| LBX2(NM_001009812,ladybird homeobox 2,194aa) | g.2:74725178G>A,c.461C>T,p.S154F |
| LBX2(NM_001009812,ladybird homeobox 2,194aa) | g.2:74725103G>C,c.536C>G,p.P179R |
| LBX1(NM_006562,ladybird homeobox 1,281aa) | g.10:102987253G>A,c.620C>T,p.A207V |
| LBX1(NM_006562,ladybird homeobox 1,281aa) | g.10:102987097G>A,c.776C>T,p.T259M |
| LBR(NM_002296,lamin B receptor,615aa) | g.1:225607144C>T,c.461G>A,p.S154N |
| LBR(NM_002296,lamin B receptor,615aa) | g.1:225607100G>A,c.505C>T,p.R169C |
| LBR(NM_002296,lamin B receptor,615aa) | g.1:225607006G>T,c.599C>A,p.T200N |
| LBR(NM_002296,lamin B receptor,615aa) | g.1:225600341T>C,c.899A>G,p.Y300C |
| LBR(NM_002296,lamin B receptor,615aa) | g.1:225600276C>T,c.964G>A,p.V322M |
| LBR(NM_002296,lamin B receptor,615aa) | g.1:225600245G>A,c.995C>T,p.A332V |
| LBR(NM_002296,lamin B receptor,615aa) | g.1:225599137C>T,c.1090G>A,p.A364T |
| LBR(NM_002296,lamin B receptor,615aa) | g.1:225594518G>T,c.1331C>A,p.T444N |
| LBR(NM_002296,lamin B receptor,615aa) | g.1:225594450T>A,c.1399A>T,p.I467F |
| LBR(NM_002296,lamin B receptor,615aa) | g.1:225592364C>T,c.1528G>A,p.A510T |
| LBP(NM_004139,lipopolysaccharide binding protein,481aa) | g.20:37002589G>A,c.1333G>A,p.A445T |
| LBP(NM_004139,lipopolysaccharide binding protein,481aa) | g.20:37001761T>C,c.1306T>C,p.F436L |