| 基因名 | 突变 |
|---|---|
| WARS(NM_004184,tryptophanyl-tRNA synthetase,471aa) | g.14:100826940C>T,c.373G>A,p.G125S |
| WARS(NM_004184,tryptophanyl-tRNA synthetase,471aa) | g.14:100808859G>A,c.989C>T,p.P330L |
| WARS(NM_004184,tryptophanyl-tRNA synthetase,471aa) | g.14:100803422C>T,c.1231G>A,p.D411N |
| WARS(NM_004184,tryptophanyl-tRNA synthetase,471aa) | g.14:100801301C>A,c.1327G>T,p.A443S |
| WARS2(NM_201263,tryptophanyl tRNA synthetase 2, mitochondrial,220aa) | g.1:119683231A>C,c.37T>G,p.W13G |
| WARS2(NM_201263,tryptophanyl tRNA synthetase 2, mitochondrial,220aa) | g.1:119619122C>G,c.199G>C,p.D67H |
| WAPAL(NM_015045,wings apart-like homolog (Drosophila),1190aa) | g.10:88277664T>C,c.163A>G,p.I55V |
| WAPAL(NM_015045,wings apart-like homolog (Drosophila),1190aa) | g.10:88277457C>T,c.370G>A,p.V124I |
| WAPAL(NM_015045,wings apart-like homolog (Drosophila),1190aa) | g.10:88259561G>A,c.1439C>T,p.T480I |
| WAPAL(NM_015045,wings apart-like homolog (Drosophila),1190aa) | g.10:88259492G>A,c.1508C>T,p.S503F |
| WAPAL(NM_015045,wings apart-like homolog (Drosophila),1190aa) | g.10:88213060C>T,c.2866G>A,p.G956S |
| WAC(NM_016628,WW domain containing adaptor with coiled-coil,647aa) | g.10:28900846C>A,c.1432C>A,p.P478T |
| WAC(NM_016628,WW domain containing adaptor with coiled-coil,647aa) | g.10:28897120A>G,c.925A>G,p.T309A |
| WAC(NM_016628,WW domain containing adaptor with coiled-coil,647aa) | g.10:28884820A>G,c.769A>G,p.T257A |
| WAC(NM_016628,WW domain containing adaptor with coiled-coil,647aa) | g.10:28824618A>G,c.206A>G,p.Y69C |
| WAC(NM_016628,WW domain containing adaptor with coiled-coil,647aa) | g.10:28824557G>A,c.145G>A,p.A49T |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6232308C>T,c.55G>A,p.G19R |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6230369del,c.191del,p.64fs |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6220078_6220079insA,c.276_277insT,p.92fs |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6204738G>A,c.545C>T,p.S182L |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6204737C>T,c.546G>A,p.S182S |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6182828A>T,c.954T>A,p.N318K |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6173538G>A,c.1306C>T,p.R436C |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6173514C>T,c.1330G>A,p.V444I |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6173433C>T,c.1411G>A,p.V471I |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6172202T>C,c.1451A>G,p.H484R |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6172134T>C,c.1519A>G,p.R507G |
| VWF(NM_000552,von Willebrand factor,2813aa) | g.12:6167138G>A,c.1606C>T,p.L536F |