| 基因名 | 突变 |
|---|---|
| DHX9(NM_001357,DEAH (Asp-Glu-Ala-His) box helicase 9,1270aa) | g.1:182856561G>A,c.3805G>A,p.G1269S |
| DHX9(NM_001357,DEAH (Asp-Glu-Ala-His) box helicase 9,1270aa) | g.1:182850454A>G,c.2680A>G,p.I894V |
| DHX8(NM_004941,DEAH (Asp-Glu-Ala-His) box polypeptide 8,1220aa) | g.17:41598230G>A,c.3049G>A,p.V1017I |
| DHX8(NM_004941,DEAH (Asp-Glu-Ala-His) box polypeptide 8,1220aa) | g.17:41585021A>G,c.2074A>G,p.I692V |
| DHX8(NM_004941,DEAH (Asp-Glu-Ala-His) box polypeptide 8,1220aa) | g.17:41584374G>A,c.1732G>A,p.V578I |
| DHX8(NM_004941,DEAH (Asp-Glu-Ala-His) box polypeptide 8,1220aa) | g.17:41570144G>A,c.599G>A,p.R200Q |
| DHX8(NM_004941,DEAH (Asp-Glu-Ala-His) box polypeptide 8,1220aa) | g.17:41570077C>T,c.532C>T,p.R178X |
| DHX8(NM_004941,DEAH (Asp-Glu-Ala-His) box polypeptide 8,1220aa) | g.17:41570072G>A,c.527G>A,p.R176Q |
| DHX8(NM_004941,DEAH (Asp-Glu-Ala-His) box polypeptide 8,1220aa) | g.17:41568557A>C,c.332A>C,p.E111A |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40263464G>A,c.220C>T,p.R74C |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40263458T>C,c.226A>G,p.T76A |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40263400C>T,c.284G>A,p.R95Q |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40261296G>A,c.670C>T,p.R224C |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40258005G>A,c.1000C>T,p.R334C |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40257876G>A,c.1129C>T,p.R377C |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40257163T>C,c.1274A>G,p.Q425R |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40257055T>C,c.1382A>G,p.N461S |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40256924C>T,c.1423G>A,p.D475N |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40256863A>G,c.1484T>C,p.I495T |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40255812C>T,c.1568G>A,p.R523Q |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40255749C>T,c.1631G>A,p.R544Q |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40255743T>C,c.1637A>G,p.Q546R |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40254239C>A,c.1846G>T,p.G616W |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40253856G>A,c.1960C>T,p.R654C |
| DHX58(NM_024119,DEXH (Asp-Glu-X-His) box polypeptide 58,678aa) | g.17:40253855C>T,c.1961G>A,p.R654H |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39095468C>T,c.80G>A,p.R27K |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39095433C>T,c.115G>A,p.G39S |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39095411_39095413del,c.135_137del,p.45_46del |