| 基因名 | 突变 |
|---|---|
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63982745C>A,c.5932G>T,p.A1978S |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63981888C>T,c.5948G>A,p.R1983H |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63970456T>C,c.6658A>G,p.I2220V |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63970338C>T,c.6776G>A,p.R2259H |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63970149C>T,c.6965G>A,p.R2322Q |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63967224A>G,c.7163T>C,p.L2388P |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63967131C>T,c.7256G>A,p.R2419Q |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63961833T>C,c.8110A>G,p.I2704V |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63958339_63958340insC,c.8333_8334insG,p.2778fs |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63958229C>T,c.8444G>A,p.G2815E |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63950887G>A,c.9455C>T,p.S3152F |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63950849C>A,c.9493G>T,p.A3165S |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63937724C>T,c.11036G>A,p.R3679H |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63937264C>T,c.11111G>A,p.R3704H |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63937209C>G,c.11166G>C,p.E3722D |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63935703C>T,c.11231G>A,p.R3744Q |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63927008C>T,c.12494G>A,p.R4165H |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63926054G>A,c.12686C>T,p.S4229L |
| HERC1(NM_003922,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,4861aa) | g.15:63915039C>T,c.13663G>A,p.A4555T |
| HEPN1(NM_001037558,hepatocellular carcinoma, down-regulated 1,88aa) | g.11:124789828A>T,c.182A>T,p.H61L |
| HEPN1(NM_001037558,hepatocellular carcinoma, down-regulated 1,88aa) | g.11:124789755T>C,c.109T>C,p.W37R |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65486284G>T,c.3409G>T,p.V1137L |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65475998C>G,c.2884C>G,p.L962V |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65428056C>G,c.2693C>G,p.S898C |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65423236G>A,c.2270G>A,p.S757N |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65418789G>A,c.1945G>A,p.A649T |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65417725G>C,c.1864G>C,p.D622H |
| HEPH(NM_138737,hephaestin,1212aa) | g.X:65417719G>A,c.1858G>A,p.G620S |