| 基因名 | 突变 |
|---|---|
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98237004G>A,c.473C>T,p.S158F |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98230371G>A,c.1730C>T,p.T577M |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98228403T>A,c.2006A>T,p.E669V |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98224877del,c.2246del,p.749fs |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98224802T>A,c.2321A>T,p.Y774F |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98215264C>T,c.3229G>A,p.A1077T |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98207864A>G,c.3752T>C,p.I1251T |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98205572C>A,c.3993G>T,p.R1331S |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98205532T>C,c.4033A>G,p.I1345V |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98193992C>T,c.4679G>A,p.R1560Q |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98193990G>A,c.4681C>T,p.H1561Y |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98192286C>T,c.4931G>A,p.R1644Q |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98192268G>A,c.4949C>T,p.T1650M |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98192167G>A,c.5050C>T,p.P1684S |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98192166G>T,c.5051C>A,p.P1684H |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98192165_98192167del,c.5050_5052del,p.1684del |
| CHD1(NM_001270,chromodomain helicase DNA binding protein 1,1710aa) | g.5:98192095G>A,c.5122C>T,p.R1708W |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146767149G>T,c.2653G>T,p.A885S |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146765379A>G,c.2479A>G,p.I827V |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146763171T>A,c.2328T>A,p.S776R |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146759404A>G,c.2312A>G,p.K771R |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146759364C>T,c.2272C>T,p.R758X |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146759320C>G,c.2228C>G,p.S743C |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146758054G>A,c.2098G>A,p.G700R |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146757131A>G,c.1985A>G,p.K662R |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146757092A>C,c.1946A>C,p.E649A |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146747796C>T,c.1414C>T,p.R472X |
| CHD1L(NM_004284,chromodomain helicase DNA binding protein 1-like,897aa) | g.1:146747766A>G,c.1386-2A>G,p.462Acceptor |