| 基因名 | 突变 |
|---|---|
| DDX60L(NM_001012967,DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like,1706aa) | g.4:169282355T>C,c.4936A>G,p.M1646V |
| DDX5(NM_004396,DEAD (Asp-Glu-Ala-Asp) box helicase 5,614aa) | g.17:62500413T>G,c.234A>C,p.R78S |
| DDX5(NM_004396,DEAD (Asp-Glu-Ala-Asp) box helicase 5,614aa) | g.17:62496670A>C,c.1438T>G,p.S480A |
| DDX5(NM_004396,DEAD (Asp-Glu-Ala-Asp) box helicase 5,614aa) | g.17:62496134C>T,c.1752G>A,p.M584I |
| DDX5(NM_004396,DEAD (Asp-Glu-Ala-Asp) box helicase 5,614aa) | g.17:62496129T>C,c.1757A>G,p.N586S |
| DDX59(NM_001031725,DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,619aa) | g.1:200635721C>G,c.148G>C,p.A50P |
| DDX59(NM_001031725,DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,619aa) | g.1:200635618C>G,c.251G>C,p.S84T |
| DDX59(NM_001031725,DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,619aa) | g.1:200635550T>C,c.319A>G,p.I107V |
| DDX59(NM_001031725,DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,619aa) | g.1:200635541C>A,c.328G>T,p.V110F |
| DDX59(NM_001031725,DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,619aa) | g.1:200635460G>C,c.409C>G,p.L137V |
| DDX59(NM_001031725,DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,619aa) | g.1:200635333T>C,c.536A>G,p.E179G |
| DDX59(NM_001031725,DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,619aa) | g.1:200633073G>T,c.946C>A,p.L316I |
| DDX59(NM_001031725,DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,619aa) | g.1:200619667A>T,c.1200T>A,p.H400Q |
| DDX59(NM_001031725,DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,619aa) | g.1:200618279C>T,c.1390G>A,p.V464I |
| DDX59(NM_001031725,DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,619aa) | g.1:200617625C>T,c.1538G>A,p.S513N |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32526146G>A,c.19C>T,p.R7C |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32500893T>C,c.151A>G,p.M51V |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32500832C>T,c.212G>A,p.R71H |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32493767T>G,c.415A>C,p.I139L |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32492529G>A,c.431C>T,p.S144F |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32487627A>G,c.1217T>C,p.I406T |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32487576G>C,c.1268C>G,p.A423G |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32481339C>T,c.1637G>A,p.R546Q |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32480268G>A,c.1723C>T,p.R575X |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32480251A>T,c.1740T>A,p.D580E |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32472996C>T,c.1991G>A,p.R664H |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32467918G>A,c.2027C>T,p.P676L |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32466326G>A,c.2299C>T,p.R767C |