| 基因名 | 突变 |
|---|---|
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77082333C>T,c.2134C>T,p.R712C |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77082174C>T,c.1975C>T,p.R659C |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77081788G>A,c.1787G>A,p.S596N |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77081423C>T,c.1699C>T,p.H567Y |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77081408G>C,c.1684G>C,p.G562R |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77081397G>A,c.1673G>A,p.R558Q |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77081388G>A,c.1664G>A,p.R555H |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77080700C>T,c.1523C>T,p.T508I |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77080651A>G,c.1474A>G,p.K492E |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77079864T>C,c.1273T>C,p.Y425H |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77079852G>A,c.1261G>A,p.V421I |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77079584G>A,c.1163G>A,p.R388H |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77079583C>T,c.1162C>T,p.R388C |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77079575G>A,c.1154G>A,p.R385Q |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77079117C>T,c.1054C>T,p.R352X |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77078069G>A,c.962G>A,p.R321H |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77077065G>A,c.782G>A,p.R261Q |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77077013G>A,c.730G>A,p.A244T |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77076432G>A,c.709G>A,p.E237K |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77076301C>G,c.578C>G,p.T193R |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77075669C>T,c.515C>T,p.P172L |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77075659G>A,c.505G>A,p.V169I |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77073901G>A,c.371G>A,p.R124Q |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77071040C>A,c.14C>A,p.A5E |
| ENDOV(NM_173627,endonuclease V,282aa) | g.17:78403575G>A,c.782G>A,p.S261N |
| ENDOV(NM_173627,endonuclease V,282aa) | g.17:78402430C>T,c.749C>T,p.S250L |
| ENDOV(NM_173627,endonuclease V,282aa) | g.17:78399397C>T,c.691C>T,p.R231W |
| ENDOV(NM_173627,endonuclease V,282aa) | g.17:78399337G>A,c.631G>A,p.V211M |