| 基因名 | 突变 |
|---|---|
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40050314G>A,c.4961C>T,p.S1654F |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40049873T>C,c.5402A>G,p.N1801S |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40049586T>C,c.5689A>G,p.T1897A |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40049579T>A,c.5696A>T,p.N1899I |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40049450T>A,c.5825A>T,p.H1942L |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40049424C>T,c.5851G>A,p.E1951K |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40049349C>T,c.5926G>A,p.A1976T |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40049339C>T,c.5936G>A,p.G1979D |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40045231G>C,c.6483C>G,p.H2161Q |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40043893C>T,c.6872G>A,p.R2291Q |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40040870G>A,c.7165C>T,p.R2389C |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40033295T>C,c.8086A>G,p.R2696G |
| CHD6(NM_032221,chromodomain helicase DNA binding protein 6,2715aa) | g.20:40033292C>T,c.8089G>A,p.E2697K |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6215713G>A,c.452C>T,p.S151L |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6215695G>A,c.470C>T,p.T157M |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6206882G>A,c.1433C>T,p.T478M |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6206323C>T,c.1751G>A,p.R584H |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6194223G>A,c.3109C>T,p.R1037W |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6184131T>A,c.4576A>T,p.T1526S |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6184092A>G,c.4615T>C,p.S1539P |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6184059G>A,c.4648C>T,p.P1550S |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6181605C>A,c.4728G>T,p.M1576I |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6172260T>C,c.5080A>G,p.K1694E |
| CHD5(NM_015557,chromodomain helicase DNA binding protein 5,1954aa) | g.1:6171835G>A,c.5249C>T,p.T1750M |
| CHD4(NM_001273,chromodomain helicase DNA binding protein 4,1912aa) | g.12:6711555C>T,c.209G>A,p.R70H |
| CHD4(NM_001273,chromodomain helicase DNA binding protein 4,1912aa) | g.12:6711326G>A,c.238C>T,p.R80W |
| CHD4(NM_001273,chromodomain helicase DNA binding protein 4,1912aa) | g.12:6711259C>T,c.305G>A,p.R102H |
| CHD4(NM_001273,chromodomain helicase DNA binding protein 4,1912aa) | g.12:6711147C>A,c.417G>T,p.E139D |