| 基因名 | 突变 |
|---|---|
| DDX17(NM_001098504,DEAD (Asp-Glu-Ala-Asp) box helicase 17,731aa) | g.22:38902067G>A,c.176C>T,p.P59L |
| DDX17(NM_001098504,DEAD (Asp-Glu-Ala-Asp) box helicase 17,731aa) | g.22:38897266C>T,c.307G>A,p.G103S |
| DDX17(NM_001098504,DEAD (Asp-Glu-Ala-Asp) box helicase 17,731aa) | g.22:38895423G>A,c.520C>T,p.H174Y |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31256546G>A,c.2572G>A,p.V858I |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31256517C>T,c.2543C>T,p.A848V |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31254052G>C,c.2040G>C,p.E680D |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31253621G>A,c.1928G>A,p.R643H |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31250896C>T,c.1840C>T,p.R614W |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31250875G>C,c.1819G>C,p.A607P |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31249886C>T,c.1724C>T,p.T575M |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31249861C>G,c.1699C>G,p.Q567E |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31249858A>G,c.1696A>G,p.I566V |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31249855C>T,c.1693C>T,p.H565Y |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31249834C>T,c.1672C>T,p.R558X |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31246230G>T,c.1341G>T,p.L447F |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31244713C>T,c.1150C>T,p.R384W |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31244705C>T,c.1142C>T,p.A381V |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31244701G>A,c.1138G>A,p.A380T |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31244665C>T,c.1102C>T,p.P368S |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31242395G>A,c.851G>A,p.R284H |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31242362A>G,c.818A>G,p.K273R |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31242358G>A,c.814G>A,p.V272M |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31242081G>A,c.788G>A,p.R263Q |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31238059A>G,c.637A>G,p.R213G |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31237978C>T,c.556C>T,p.R186W |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31237967C>T,c.545C>T,p.P182L |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31237542G>A,c.419G>A,p.R140Q |
| DDX11(NM_030653,DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11,906aa) | g.12:31236988G>A,c.386G>A,p.R129Q |