| 基因名 | 突变 |
|---|---|
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113603690C>T,c.1562G>A,p.R521H |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113603681G>A,c.1571C>T,p.P524L |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113602062C>T,c.1748G>A,p.R583Q |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113602036C>T,c.1774G>A,p.A592T |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113601061C>T,c.1957G>A,p.V653M |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113601055G>A,c.1963C>T,p.R655W |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113600940C>T,c.2078G>A,p.R693Q |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113600831C>G,c.2101G>C,p.G701R |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113600753G>A,c.2179C>T,p.R727W |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113599081C>T,c.2407G>A,p.G803S |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113596866G>A,c.2465C>T,p.P822L |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113596827C>T,c.2504G>A,p.R835H |
| DDX54(NM_001111322,DEAD (Asp-Glu-Ala-Asp) box polypeptide 54,882aa) | g.12:113596737C>A,c.2594G>T,p.G865V |
| DDX53(NM_182699,DEAD (Asp-Glu-Ala-Asp) box polypeptide 53,631aa) | g.X:23019399A>G,c.1225A>G,p.T409A |
| DDX53(NM_182699,DEAD (Asp-Glu-Ala-Asp) box polypeptide 53,631aa) | g.X:23019346G>T,c.1172G>T,p.R391M |
| DDX53(NM_182699,DEAD (Asp-Glu-Ala-Asp) box polypeptide 53,631aa) | g.X:23019317G>T,c.1143G>T,p.M381I |
| DDX53(NM_182699,DEAD (Asp-Glu-Ala-Asp) box polypeptide 53,631aa) | g.X:23018814C>T,c.640C>T,p.R214C |
| DDX53(NM_182699,DEAD (Asp-Glu-Ala-Asp) box polypeptide 53,631aa) | g.X:23018493G>T,c.319G>T,p.A107S |
| DDX53(NM_182699,DEAD (Asp-Glu-Ala-Asp) box polypeptide 53,631aa) | g.X:23018461T>C,c.287T>C,p.F96S |
| DDX53(NM_182699,DEAD (Asp-Glu-Ala-Asp) box polypeptide 53,631aa) | g.X:23018391G>C,c.217G>C,p.D73H |
| DDX53(NM_182699,DEAD (Asp-Glu-Ala-Asp) box polypeptide 53,631aa) | g.X:23018359T>C,c.185T>C,p.V62A |
| DDX52(NM_007010,DEAD (Asp-Glu-Ala-Asp) box polypeptide 52,599aa) | g.17:36003436T>C,c.14A>G,p.D5G |
| DDX52(NM_007010,DEAD (Asp-Glu-Ala-Asp) box polypeptide 52,599aa) | g.17:35988706T>C,c.758A>G,p.E253G |
| DDX52(NM_007010,DEAD (Asp-Glu-Ala-Asp) box polypeptide 52,599aa) | g.17:35985983T>C,c.1094A>G,p.K365R |
| DDX52(NM_007010,DEAD (Asp-Glu-Ala-Asp) box polypeptide 52,599aa) | g.17:35984410T>C,c.1207A>G,p.M403V |
| DDX52(NM_007010,DEAD (Asp-Glu-Ala-Asp) box polypeptide 52,599aa) | g.17:35981285A>G,c.1388T>C,p.I463T |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132628589C>T,c.253G>A,p.E85K |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132628281C>T,c.478G>A,p.G160S |