| 基因名 | 突变 |
|---|---|
| VSX2(NM_182894,visual system homeobox 2,361aa) | g.14:74727407G>A,c.871G>A,p.D291N |
| VSX2(NM_182894,visual system homeobox 2,361aa) | g.14:74727398C>T,c.862C>T,p.R288W |
| VSX2(NM_182894,visual system homeobox 2,361aa) | g.14:74706508G>A,c.244G>A,p.G82R |
| VSX1(NM_001256272,visual system homeobox 1,301aa) | g.20:25062650G>A,c.83C>T,p.P28L |
| VSX1(NM_001256272,visual system homeobox 1,301aa) | g.20:25062342G>T,c.391C>A,p.R131S |
| VSX1(NM_001256272,visual system homeobox 1,301aa) | g.20:25060143G>C,c.432C>G,p.D144E |
| VSX1(NM_001256272,visual system homeobox 1,301aa) | g.20:25060096C>T,c.479G>A,p.G160D |
| VSX1(NM_001256272,visual system homeobox 1,301aa) | g.20:25060096C>A,c.479G>T,p.G160V |
| VSX1(NM_001256272,visual system homeobox 1,301aa) | g.20:25059497C>A,c.595G>T,p.V199L |
| VSX1(NM_001256272,visual system homeobox 1,301aa) | g.20:25058398T>C,c.731A>G,p.H244R |
| VSTM5(NM_001144871,V-set and transmembrane domain containing 5,200aa) | g.11:93583617G>A,c.52C>T,p.L18F |
| VSTM5(NM_001144871,V-set and transmembrane domain containing 5,200aa) | g.11:93583590G>A,c.79C>T,p.R27C |
| VSTM5(NM_001144871,V-set and transmembrane domain containing 5,200aa) | g.11:93554242C>G,c.339G>C,p.R113S |
| VSTM4(NM_001031746,V-set and transmembrane domain containing 4,320aa) | g.10:50315999C>T,c.97G>A,p.V33M |
| VSTM4(NM_001031746,V-set and transmembrane domain containing 4,320aa) | g.10:50315938C>T,c.158G>A,p.R53Q |
| VSTM4(NM_001031746,V-set and transmembrane domain containing 4,320aa) | g.10:50315893A>G,c.203T>C,p.F68S |
| VSTM4(NM_001031746,V-set and transmembrane domain containing 4,320aa) | g.10:50315851C>T,c.245G>A,p.R82Q |
| VSTM4(NM_001031746,V-set and transmembrane domain containing 4,320aa) | g.10:50315822G>A,c.274C>T,p.R92C |
| VSTM4(NM_001031746,V-set and transmembrane domain containing 4,320aa) | g.10:50315810G>A,c.286C>T,p.R96W |
| VSTM4(NM_001031746,V-set and transmembrane domain containing 4,320aa) | g.10:50315648C>T,c.448G>A,p.E150K |
| VSTM4(NM_001031746,V-set and transmembrane domain containing 4,320aa) | g.10:50285339C>T,c.559G>A,p.V187M |
| VSTM4(NM_001031746,V-set and transmembrane domain containing 4,320aa) | g.10:50227774A>T,c.884T>A,p.I295N |
| VSTM2L(NM_080607,V-set and transmembrane domain containing 2 like,204aa) | g.20:36572542A>G,c.502A>G,p.N168D |
| VSTM2L(NM_080607,V-set and transmembrane domain containing 2 like,204aa) | g.20:36572456C>T,c.416C>T,p.T139I |
| VSTM2L(NM_080607,V-set and transmembrane domain containing 2 like,204aa) | g.20:36560190C>T,c.275C>T,p.A92V |
| VSTM2L(NM_080607,V-set and transmembrane domain containing 2 like,204aa) | g.20:36560117G>A,c.202G>A,p.G68S |
| VSTM2L(NM_080607,V-set and transmembrane domain containing 2 like,204aa) | g.20:36560072C>T,c.157C>T,p.R53W |
| VSTM2L(NM_080607,V-set and transmembrane domain containing 2 like,204aa) | g.20:36531798G>A,c.46G>A,p.A16T |