| 基因名 | 突变 |
|---|---|
| DDX20(NM_007204,DEAD (Asp-Glu-Ala-Asp) box polypeptide 20,824aa) | g.1:112298764T>C,c.218T>C,p.V73A |
| DDX1(NM_004939,DEAD (Asp-Glu-Ala-Asp) box helicase 1,740aa) | g.2:15770968G>A,c.2161G>A,p.E721K |
| DDX1(NM_004939,DEAD (Asp-Glu-Ala-Asp) box helicase 1,740aa) | g.2:15767203C>G,c.1620C>G,p.F540L |
| DDX1(NM_004939,DEAD (Asp-Glu-Ala-Asp) box helicase 1,740aa) | g.2:15758349G>A,c.1161G>A,p.M387I |
| DDX1(NM_004939,DEAD (Asp-Glu-Ala-Asp) box helicase 1,740aa) | g.2:15753379C>T,c.988C>T,p.R330W |
| DDX1(NM_004939,DEAD (Asp-Glu-Ala-Asp) box helicase 1,740aa) | g.2:15746334T>G,c.763T>G,p.F255V |
| DDX1(NM_004939,DEAD (Asp-Glu-Ala-Asp) box helicase 1,740aa) | g.2:15746101T>C,c.653T>C,p.I218T |
| DDX1(NM_004939,DEAD (Asp-Glu-Ala-Asp) box helicase 1,740aa) | g.2:15744615G>C,c.607G>C,p.V203L |
| DDX1(NM_004939,DEAD (Asp-Glu-Ala-Asp) box helicase 1,740aa) | g.2:15737519C>G,c.183C>G,p.I61M |
| DDX1(NM_004939,DEAD (Asp-Glu-Ala-Asp) box helicase 1,740aa) | g.2:15735621A>G,c.76A>G,p.T26A |
| DDX1(NM_004939,DEAD (Asp-Glu-Ala-Asp) box helicase 1,740aa) | g.2:15735301G>A,c.49G>A,p.V17M |
| DDX19B(NM_007242,DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B,479aa) | g.16:70358574C>A,c.476C>A,p.A159E |
| DDX19B(NM_007242,DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B,479aa) | g.16:70358495A>G,c.397A>G,p.N133D |
| DDX19B(NM_007242,DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B,479aa) | g.16:70346548C>G,c.94C>G,p.P32A |
| DDX19A(NM_018332,DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A,478aa) | g.16:70399019G>A,c.589G>A,p.V197I |
| DDX19A(NM_018332,DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A,478aa) | g.16:70398489A>T,c.430A>T,p.T144S |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118588274T>C,c.1987T>C,p.S663P |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118583038A>G,c.1384A>G,p.N462D |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118582591C>T,c.1282C>T,p.L428F |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118582189G>A,c.1111G>A,p.V371I |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118582159A>G,c.1081A>G,p.M361V |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118579479A>G,c.793A>G,p.M265V |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118578770G>A,c.548G>A,p.C183Y |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118575304G>A,c.370G>A,p.D124N |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118575232A>G,c.298A>G,p.M100V |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118575215C>G,c.281C>G,p.T94S |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118575158_118575160del,c.224_226del,p.75_76del |
| DDX18(NM_006773,DEAD (Asp-Glu-Ala-Asp) box polypeptide 18,670aa) | g.2:118575022G>T,c.88G>T,p.A30S |