| 基因名 | 突变 |
|---|---|
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70987379T>C,c.239A>G,p.D80G |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70972015G>A,c.784C>T,p.R262X |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70970463T>C,c.935A>G,p.N312S |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70963392T>C,c.1168A>G,p.M390V |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70961757C>T,c.1227G>A,p.M409I |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70961649T>G,c.1335A>C,p.Q445H |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70960979C>T,c.2005G>A,p.V669I |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70960730T>G,c.2254A>C,p.N752H |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70960582A>G,c.2402T>C,p.I801T |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70960331C>T,c.2653G>A,p.V885I |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70960282G>A,c.2702C>T,p.T901I |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70960222G>A,c.2762C>T,p.S921L |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70960058C>T,c.2926G>A,p.V976I |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70959871A>G,c.3113T>C,p.I1038T |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70959823T>G,c.3161A>C,p.E1054A |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70959808A>G,c.3176T>C,p.L1059S |
| UACA(NM_001008224,uveal autoantigen with coiled-coil domains and ankyrin repeats,1403aa) | g.15:70957107T>C,c.3968A>G,p.N1323S |
| U2SURP(NM_001080415,U2 snRNP-associated SURP domain containing,1029aa) | g.3:142756112C>T,c.2156C>T,p.T719I |
| U2AF1(NM_001025204,U2 small nuclear RNA auxiliary factor 1,167aa) | g.21:44513271C>T,c.445G>A,p.G149S |
| U2AF1L4(NM_001040425,U2 small nuclear RNA auxiliary factor 1-like 4,181aa) | g.19:36235028C>T,c.250G>A,p.G84R |
| TYW5(NM_001039693,tRNA-yW synthesizing protein 5,315aa) | g.2:200813126T>C,c.148A>G,p.S50G |
| TYW5(NM_001039693,tRNA-yW synthesizing protein 5,315aa) | g.2:200797806C>T,c.932G>A,p.S311N |
| TYW5(NM_001039693,tRNA-yW synthesizing protein 5,315aa) | g.2:200797798A>C,c.940T>G,p.S314A |
| TYW3(NM_138467,tRNA-yW synthesizing protein 3 homolog (S. cerevisiae),259aa) | g.1:75229789G>A,c.772G>A,p.D258N |
| TYW3(NM_138467,tRNA-yW synthesizing protein 3 homolog (S. cerevisiae),259aa) | g.1:75229621A>T,c.604A>T,p.T202S |
| TYW3(NM_138467,tRNA-yW synthesizing protein 3 homolog (S. cerevisiae),259aa) | g.1:75229588T>C,c.571T>C,p.C191R |
| TYW3(NM_138467,tRNA-yW synthesizing protein 3 homolog (S. cerevisiae),259aa) | g.1:75214441A>G,c.361A>G,p.M121V |
| TYW3(NM_138467,tRNA-yW synthesizing protein 3 homolog (S. cerevisiae),259aa) | g.1:75199023A>C,c.95A>C,p.E32A |