| 基因名 | 突变 |
|---|---|
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132627365G>A,c.578C>T,p.T193I |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132627363C>T,c.580G>A,p.E194K |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132626859C>T,c.779G>A,p.S260N |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132626711G>T,c.841C>A,p.H281N |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132626668T>C,c.884A>G,p.Q295R |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132626452G>A,c.938C>T,p.S313F |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132626425G>A,c.965C>T,p.A322V |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132626395G>A,c.995C>T,p.T332I |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132625901G>A,c.1169C>T,p.A390V |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132624707C>T,c.1711G>A,p.V571M |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132624701C>T,c.1717G>A,p.G573S |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132624677C>T,c.1741G>A,p.D581N |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132624440G>A,c.1805C>T,p.T602I |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132624434T>C,c.1811A>G,p.Q604R |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132624310C>T,c.1844G>A,p.R615K |
| DDX51(NM_175066,DEAD (Asp-Glu-Ala-Asp) box polypeptide 51,666aa) | g.12:132624262C>T,c.1892G>A,p.R631Q |
| DDX50(NM_024045,DEAD (Asp-Glu-Ala-Asp) box polypeptide 50,737aa) | g.10:70706259G>A,c.2087G>A,p.R696Q |
| DDX50(NM_024045,DEAD (Asp-Glu-Ala-Asp) box polypeptide 50,737aa) | g.10:70695798A>G,c.1558A>G,p.M520V |
| DDX50(NM_024045,DEAD (Asp-Glu-Ala-Asp) box polypeptide 50,737aa) | g.10:70673018C>T,c.740C>T,p.T247I |
| DDX50(NM_024045,DEAD (Asp-Glu-Ala-Asp) box polypeptide 50,737aa) | g.10:70666543A>C,c.164A>C,p.D55A |
| DDX4(NM_024415,DEAD (Asp-Glu-Ala-Asp) box polypeptide 4,724aa) | g.5:55088580A>G,c.1414A>G,p.K472E |
| DDX4(NM_024415,DEAD (Asp-Glu-Ala-Asp) box polypeptide 4,724aa) | g.5:55086421T>C,c.1190T>C,p.V397A |
| DDX4(NM_024415,DEAD (Asp-Glu-Ala-Asp) box polypeptide 4,724aa) | g.5:55081694A>G,c.859A>G,p.I287V |
| DDX4(NM_024415,DEAD (Asp-Glu-Ala-Asp) box polypeptide 4,724aa) | g.5:55081677A>G,c.842A>G,p.H281R |
| DDX4(NM_024415,DEAD (Asp-Glu-Ala-Asp) box polypeptide 4,724aa) | g.5:55081662T>C,c.827T>C,p.V276A |
| DDX4(NM_024415,DEAD (Asp-Glu-Ala-Asp) box polypeptide 4,724aa) | g.5:55075860G>A,c.463G>A,p.G155S |
| DDX4(NM_024415,DEAD (Asp-Glu-Ala-Asp) box polypeptide 4,724aa) | g.5:55063760A>G,c.386A>G,p.K129R |
| DDX4(NM_024415,DEAD (Asp-Glu-Ala-Asp) box polypeptide 4,724aa) | g.5:55034832T>G,c.41T>G,p.M14R |