| Genename | Variants |
|---|---|
| LCE1D(NM_178352,late cornified envelope 1D,114aa) | g.1:152770521G>A,c.251G>A,p.R84H |
| LCE1D(NM_178352,late cornified envelope 1D,114aa) | g.1:152770503G>A,c.233G>A,p.R78H |
| LCE1D(NM_178352,late cornified envelope 1D,114aa) | g.1:152770475G>A,c.205G>A,p.G69S |
| LCE1D(NM_178352,late cornified envelope 1D,114aa) | g.1:152770454G>A,c.184G>A,p.G62S |
| LCE1D(NM_178352,late cornified envelope 1D,114aa) | g.1:152770446A>G,c.176A>G,p.N59S |
| LCE1C(NM_178351,late cornified envelope 1C,118aa) | g.1:152777908C>T,c.47G>A,p.C16Y |
| LCE1C(NM_178351,late cornified envelope 1C,118aa) | g.1:152777656G>A,c.299C>T,p.S100L |
| LCE1B(NM_178349,late cornified envelope 1B,118aa) | g.1:152785170G>A,c.248G>A,p.R83H |
| LCE1B(NM_178349,late cornified envelope 1B,118aa) | g.1:152785067G>A,c.145G>A,p.G49R |
| LCE1A(NM_178348,late cornified envelope 1A,110aa) | g.1:152800168C>T,c.220C>T,p.R74C |
| LCE1A(NM_178348,late cornified envelope 1A,110aa) | g.1:152800124G>T,c.176G>T,p.G59V |
| LCE1A(NM_178348,late cornified envelope 1A,110aa) | g.1:152800123G>A,c.175G>A,p.G59S |
| LCAT(NM_000229,lecithin-cholesterol acyltransferase,440aa) | g.16:67976824G>A,c.367C>T,p.R123C |
| LCAT(NM_000229,lecithin-cholesterol acyltransferase,440aa) | g.16:67976320A>T,c.694T>A,p.S232T |
| LCAT(NM_000229,lecithin-cholesterol acyltransferase,440aa) | g.16:67973962G>A,c.1168C>T,p.P390S |
| LCAT(NM_000229,lecithin-cholesterol acyltransferase,440aa) | g.16:67973863G>A,c.1267C>T,p.R423C |
| LCAT(NM_000229,lecithin-cholesterol acyltransferase,440aa) | g.16:67973820G>A,c.1310C>T,p.P437L |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80228541A>G,c.71T>C,p.L24S |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80228535T>G,c.77A>C,p.D26A |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80228502G>A,c.110C>T,p.S37L |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80223368C>T,c.281G>A,p.R94Q |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80223311T>C,c.338A>G,p.N113S |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80223158T>C,c.491A>G,p.H164R |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80223015C>G,c.634G>C,p.A212P |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80202321C>T,c.902G>A,p.R301H |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80198894C>T,c.1138G>A,p.G380R |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80197173G>A,c.1642C>T,p.P548S |
| LCA5(NM_181714,Leber congenital amaurosis 5,697aa) | g.6:80196848C>T,c.1967G>A,p.G656D |