| 基因名 | 突变 |
|---|---|
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32466325C>T,c.2300G>A,p.R767H |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32466308C>T,c.2317G>A,p.E773K |
| DDX58(NM_014314,DEAD (Asp-Glu-Ala-Asp) box polypeptide 58,925aa) | g.9:32457338A>G,c.2560T>C,p.S854P |
| DDX56(NM_019082,DEAD (Asp-Glu-Ala-Asp) box helicase 56,547aa) | g.7:44613265G>A,c.139C>T,p.L47F |
| DDX56(NM_019082,DEAD (Asp-Glu-Ala-Asp) box helicase 56,547aa) | g.7:44613229C>T,c.175G>A,p.A59T |
| DDX56(NM_019082,DEAD (Asp-Glu-Ala-Asp) box helicase 56,547aa) | g.7:44611981C>T,c.610G>A,p.V204I |
| DDX56(NM_019082,DEAD (Asp-Glu-Ala-Asp) box helicase 56,547aa) | g.7:44611235T>C,c.746A>G,p.Y249C |
| DDX56(NM_019082,DEAD (Asp-Glu-Ala-Asp) box helicase 56,547aa) | g.7:44611163C>T,c.818G>A,p.R273Q |
| DDX56(NM_019082,DEAD (Asp-Glu-Ala-Asp) box helicase 56,547aa) | g.7:44611157C>T,c.824G>A,p.R275H |
| DDX56(NM_019082,DEAD (Asp-Glu-Ala-Asp) box helicase 56,547aa) | g.7:44611109T>G,c.872A>C,p.E291A |
| DDX56(NM_019082,DEAD (Asp-Glu-Ala-Asp) box helicase 56,547aa) | g.7:44611095A>G,c.886T>C,p.S296P |
| DDX56(NM_019082,DEAD (Asp-Glu-Ala-Asp) box helicase 56,547aa) | g.7:44610412C>T,c.955G>A,p.V319I |
| DDX56(NM_019082,DEAD (Asp-Glu-Ala-Asp) box helicase 56,547aa) | g.7:44608766C>T,c.1256G>A,p.R419Q |
| DDX55(NM_020936,DEAD (Asp-Glu-Ala-Asp) box polypeptide 55,600aa) | g.12:124104551A>G,c.1667A>G,p.N556S |
| DDX55(NM_020936,DEAD (Asp-Glu-Ala-Asp) box polypeptide 55,600aa) | g.12:124103253C>T,c.1202C>T,p.A401V |
| DDX55(NM_020936,DEAD (Asp-Glu-Ala-Asp) box polypeptide 55,600aa) | g.12:124097777G>A,c.802G>A,p.E268K |
| DDX55(NM_020936,DEAD (Asp-Glu-Ala-Asp) box polypeptide 55,600aa) | g.12:124097766A>G,c.791A>G,p.N264S |
| DDX55(NM_020936,DEAD (Asp-Glu-Ala-Asp) box polypeptide 55,600aa) | g.12:124093367T>G,c.542T>G,p.F181C |
| DDX55(NM_020936,DEAD (Asp-Glu-Ala-Asp) box polypeptide 55,600aa) | g.12:124092033G>C,c.301G>C,p.V101L |
| DDX55(NM_020936,DEAD (Asp-Glu-Ala-Asp) box polypeptide 55,600aa) | g.12:124086736T>G,c.41T>G,p.V14G |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113623241C>G,c.16G>C,p.G6R |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113623217G>C,c.40C>G,p.R14G |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113618781C>T,c.257G>A,p.R86H |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113618755_113618756insCTT,c.282_283insAAG,p.94_95ins1aa |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113612859C>T,c.856G>A,p.V286M |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113612455T>C,c.1058A>G,p.Y353C |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113610227T>C,c.1210A>G,p.I404V |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113607677C>T,c.1312G>A,p.A438T |