| 基因名 | 突变 |
|---|---|
| DOLK(NM_014908,dolichol kinase,538aa) | g.9:131708268C>T,c.1315G>A,p.V439I |
| DOLK(NM_014908,dolichol kinase,538aa) | g.9:131708133T>C,c.1450A>G,p.I484V |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3495193G>A,c.1480G>A,p.V494I |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3495182C>T,c.1469C>T,p.S490L |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3495170C>T,c.1457C>T,p.P486L |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3495119C>A,c.1406C>A,p.P469H |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3495095G>A,c.1382G>A,p.G461D |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3495064C>T,c.1351C>T,p.R451W |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3495026C>T,c.1313C>T,p.T438M |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494971C>G,c.1258C>G,p.P420A |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494956C>T,c.1243C>T,p.P415S |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494939G>A,c.1226G>A,p.R409H |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494938C>T,c.1225C>T,p.R409C |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494884G>A,c.1171G>A,p.G391R |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494804G>A,c.1091G>A,p.R364Q |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494632G>A,c.919G>A,p.A307T |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494600A>G,c.887A>G,p.Q296R |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494560G>A,c.847G>A,p.A283T |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494529C>G,c.816C>G,p.H272Q |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494495G>A,c.782G>A,p.R261H |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3494494C>T,c.781C>T,p.R261C |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3491503C>T,c.752C>T,p.A251V |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3491503_3491511del,c.752_760del,p.251_254del |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3491439C>T,c.688C>T,p.R230C |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3475345C>T,c.313C>T,p.R105C |
| DOK7(NM_173660,docking protein 7,504aa) | g.4:3475166C>T,c.134C>T,p.S45L |
| DOK6(NM_152721,docking protein 6,331aa) | g.18:67508570C>T,c.947C>T,p.S316L |
| DOK6(NM_152721,docking protein 6,331aa) | g.18:67508509C>T,c.886C>T,p.R296C |