| 基因名 | 突变 |
|---|---|
| DDX49(NM_019070,DEAD (Asp-Glu-Ala-Asp) box polypeptide 49,483aa) | g.19:19039030C>T,c.1357C>T,p.R453X |
| DDX49(NM_019070,DEAD (Asp-Glu-Ala-Asp) box polypeptide 49,483aa) | g.19:19038997C>T,c.1324C>T,p.R442C |
| DDX49(NM_019070,DEAD (Asp-Glu-Ala-Asp) box polypeptide 49,483aa) | g.19:19038959G>A,c.1286G>A,p.R429H |
| DDX49(NM_019070,DEAD (Asp-Glu-Ala-Asp) box polypeptide 49,483aa) | g.19:19038789C>A,c.1207C>A,p.H403N |
| DDX49(NM_019070,DEAD (Asp-Glu-Ala-Asp) box polypeptide 49,483aa) | g.19:19035740G>A,c.979G>A,p.G327R |
| DDX49(NM_019070,DEAD (Asp-Glu-Ala-Asp) box polypeptide 49,483aa) | g.19:19033442G>A,c.665G>A,p.R222H |
| DDX49(NM_019070,DEAD (Asp-Glu-Ala-Asp) box polypeptide 49,483aa) | g.19:19032766G>A,c.440G>A,p.R147H |
| DDX49(NM_019070,DEAD (Asp-Glu-Ala-Asp) box polypeptide 49,483aa) | g.19:19032682G>A,c.356G>A,p.R119Q |
| DDX49(NM_019070,DEAD (Asp-Glu-Ala-Asp) box polypeptide 49,483aa) | g.19:19031448C>T,c.175C>T,p.P59S |
| DDX49(NM_019070,DEAD (Asp-Glu-Ala-Asp) box polypeptide 49,483aa) | g.19:19030611G>A,c.61G>A,p.G21S |
| DDX47(NM_016355,DEAD (Asp-Glu-Ala-Asp) box polypeptide 47,455aa) | g.12:12982475G>A,c.1355G>A,p.R452Q |
| DDX47(NM_016355,DEAD (Asp-Glu-Ala-Asp) box polypeptide 47,455aa) | g.12:12982394G>A,c.1274G>A,p.R425Q |
| DDX47(NM_016355,DEAD (Asp-Glu-Ala-Asp) box polypeptide 47,455aa) | g.12:12982358A>G,c.1238A>G,p.E413G |
| DDX47(NM_016355,DEAD (Asp-Glu-Ala-Asp) box polypeptide 47,455aa) | g.12:12980308T>A,c.1235T>A,p.M412K |
| DDX47(NM_016355,DEAD (Asp-Glu-Ala-Asp) box polypeptide 47,455aa) | g.12:12980305G>A,c.1232G>A,p.R411Q |
| DDX47(NM_016355,DEAD (Asp-Glu-Ala-Asp) box polypeptide 47,455aa) | g.12:12980304C>T,c.1231C>T,p.R411X |
| DDX47(NM_016355,DEAD (Asp-Glu-Ala-Asp) box polypeptide 47,455aa) | g.12:12977604A>G,c.1028A>G,p.H343R |
| DDX47(NM_016355,DEAD (Asp-Glu-Ala-Asp) box polypeptide 47,455aa) | g.12:12976194A>G,c.691A>G,p.K231E |
| DDX47(NM_016355,DEAD (Asp-Glu-Ala-Asp) box polypeptide 47,455aa) | g.12:12976179T>C,c.676T>C,p.C226R |
| DDX47(NM_016355,DEAD (Asp-Glu-Ala-Asp) box polypeptide 47,455aa) | g.12:12975000A>C,c.544A>C,p.M182L |
| DDX46(NM_014829,DEAD (Asp-Glu-Ala-Asp) box polypeptide 46,1031aa) | g.5:134099619C>T,c.43C>T,p.R15W |
| DDX43(NM_018665,DEAD (Asp-Glu-Ala-Asp) box polypeptide 43,648aa) | g.6:74125888A>G,c.1886A>G,p.Q629R |
| DDX43(NM_018665,DEAD (Asp-Glu-Ala-Asp) box polypeptide 43,648aa) | g.6:74125875A>G,c.1873A>G,p.K625E |
| DDX43(NM_018665,DEAD (Asp-Glu-Ala-Asp) box polypeptide 43,648aa) | g.6:74124378G>A,c.1714G>A,p.V572I |
| DDX43(NM_018665,DEAD (Asp-Glu-Ala-Asp) box polypeptide 43,648aa) | g.6:74123695C>T,c.1499C>T,p.A500V |
| DDX43(NM_018665,DEAD (Asp-Glu-Ala-Asp) box polypeptide 43,648aa) | g.6:74111631_74111633del,c.486_488del,p.162_163del |
| DDX43(NM_018665,DEAD (Asp-Glu-Ala-Asp) box polypeptide 43,648aa) | g.6:74107437T>A,c.276T>A,p.N92K |
| DDX43(NM_018665,DEAD (Asp-Glu-Ala-Asp) box polypeptide 43,648aa) | g.6:74104860T>G,c.232T>G,p.F78V |