| 基因名 | 突变 |
|---|---|
| DDX31(NM_022779,DEAD (Asp-Glu-Ala-Asp) box polypeptide 31,851aa) | g.9:135470414T>C,c.2395A>G,p.I799V |
| DDX28(NM_018380,DEAD (Asp-Glu-Ala-Asp) box polypeptide 28,540aa) | g.16:68057096T>C,c.10A>G,p.T4A |
| DDX28(NM_018380,DEAD (Asp-Glu-Ala-Asp) box polypeptide 28,540aa) | g.16:68056829C>T,c.277G>A,p.A93T |
| DDX28(NM_018380,DEAD (Asp-Glu-Ala-Asp) box polypeptide 28,540aa) | g.16:68056703G>A,c.403C>T,p.P135S |
| DDX28(NM_018380,DEAD (Asp-Glu-Ala-Asp) box polypeptide 28,540aa) | g.16:68056661C>A,c.445G>T,p.V149F |
| DDX28(NM_018380,DEAD (Asp-Glu-Ala-Asp) box polypeptide 28,540aa) | g.16:68056400C>G,c.706G>C,p.D236H |
| DDX28(NM_018380,DEAD (Asp-Glu-Ala-Asp) box polypeptide 28,540aa) | g.16:68056276A>G,c.830T>C,p.L277P |
| DDX28(NM_018380,DEAD (Asp-Glu-Ala-Asp) box polypeptide 28,540aa) | g.16:68056229C>T,c.877G>A,p.D293N |
| DDX28(NM_018380,DEAD (Asp-Glu-Ala-Asp) box polypeptide 28,540aa) | g.16:68055677T>C,c.1429A>G,p.T477A |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47859217G>A,c.2296G>A,p.G766S |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47855830G>A,c.1945G>A,p.E649K |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47852688C>T,c.1522C>T,p.R508C |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47851624C>T,c.1519C>T,p.R507W |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47851538G>A,c.1433G>A,p.R478H |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47850228C>T,c.1348C>T,p.R450W |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47849904C>T,c.1186C>T,p.R396C |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47845369A>G,c.917A>G,p.H306R |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47841699C>T,c.656C>T,p.S219L |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47841660G>T,c.617G>T,p.G206V |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47841503G>C,c.581G>C,p.R194P |
| DDX27(NM_017895,DEAD (Asp-Glu-Ala-Asp) box polypeptide 27,796aa) | g.20:47838088G>A,c.286G>A,p.D96N |
| DDX26B(NM_182540,DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B,861aa) | g.X:134715064G>A,c.2473G>A,p.A825T |
| DDX26B(NM_182540,DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B,861aa) | g.X:134713929C>G,c.2225C>G,p.A742G |
| DDX25(NM_013264,DEAD (Asp-Glu-Ala-Asp) box helicase 25,483aa) | g.11:125788678T>C,c.1194T>C,p.C398C |
| DDX25(NM_013264,DEAD (Asp-Glu-Ala-Asp) box helicase 25,483aa) | g.11:125788550G>A,c.1066G>A,p.V356M |
| DDX25(NM_013264,DEAD (Asp-Glu-Ala-Asp) box helicase 25,483aa) | g.11:125788533A>G,c.1049A>G,p.N350S |
| DDX25(NM_013264,DEAD (Asp-Glu-Ala-Asp) box helicase 25,483aa) | g.11:125781367A>G,c.784A>G,p.S262G |
| DDX25(NM_013264,DEAD (Asp-Glu-Ala-Asp) box helicase 25,483aa) | g.11:125776101G>A,c.308G>A,p.R103Q |