| 基因名 | 突变 |
|---|---|
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89300101A>G,c.28A>G,p.R10G |
| HERC5(NM_016323,HECT and RLD domain containing E3 ubiquitin protein ligase 5,1024aa) | g.4:89426973G>C,c.3019G>C,p.E1007Q |
| HERC5(NM_016323,HECT and RLD domain containing E3 ubiquitin protein ligase 5,1024aa) | g.4:89425519G>C,c.2719G>C,p.D907H |
| HERC5(NM_016323,HECT and RLD domain containing E3 ubiquitin protein ligase 5,1024aa) | g.4:89425507G>A,c.2707G>A,p.E903K |
| HERC5(NM_016323,HECT and RLD domain containing E3 ubiquitin protein ligase 5,1024aa) | g.4:89408247G>A,c.1879G>A,p.V627I |
| HERC5(NM_016323,HECT and RLD domain containing E3 ubiquitin protein ligase 5,1024aa) | g.4:89407282G>A,c.1754G>A,p.C585Y |
| HERC5(NM_016323,HECT and RLD domain containing E3 ubiquitin protein ligase 5,1024aa) | g.4:89397091A>G,c.1492A>G,p.M498V |
| HERC5(NM_016323,HECT and RLD domain containing E3 ubiquitin protein ligase 5,1024aa) | g.4:89390392C>T,c.1219C>T,p.R407W |
| HERC5(NM_016323,HECT and RLD domain containing E3 ubiquitin protein ligase 5,1024aa) | g.4:89385130G>C,c.905G>C,p.C302S |
| HERC5(NM_016323,HECT and RLD domain containing E3 ubiquitin protein ligase 5,1024aa) | g.4:89380549C>A,c.317C>A,p.A106E |
| HERC5(NM_016323,HECT and RLD domain containing E3 ubiquitin protein ligase 5,1024aa) | g.4:89380540A>G,c.308A>G,p.D103G |
| HERC4(NM_022079,HECT and RLD domain containing E3 ubiquitin protein ligase 4,1057aa) | g.10:69832756C>T,c.110G>A,p.R37Q |
| HERC4(NM_022079,HECT and RLD domain containing E3 ubiquitin protein ligase 4,1057aa) | g.10:69785435_69785436insA,c.778-2insT,p.260Acceptorins |
| HERC4(NM_022079,HECT and RLD domain containing E3 ubiquitin protein ligase 4,1057aa) | g.10:69750901C>T,c.1327G>A,p.V443I |
| HERC4(NM_022079,HECT and RLD domain containing E3 ubiquitin protein ligase 4,1057aa) | g.10:69749996G>C,c.1605C>G,p.N535K |
| HERC4(NM_022079,HECT and RLD domain containing E3 ubiquitin protein ligase 4,1057aa) | g.10:69714743T>C,c.2194A>G,p.I732V |
| HERC4(NM_022079,HECT and RLD domain containing E3 ubiquitin protein ligase 4,1057aa) | g.10:69682825C>T,c.3037G>A,p.G1013R |
| HERC4(NM_022079,HECT and RLD domain containing E3 ubiquitin protein ligase 4,1057aa) | g.10:69682728A>T,c.3134T>A,p.I1045N |
| HERC3(NM_014606,HECT and RLD domain containing E3 ubiquitin protein ligase 3,1050aa) | g.4:89625427G>C,c.2836G>C,p.E946Q |
| HERC3(NM_014606,HECT and RLD domain containing E3 ubiquitin protein ligase 3,1050aa) | g.4:89625388A>T,c.2797A>T,p.M933L |
| HERC3(NM_014606,HECT and RLD domain containing E3 ubiquitin protein ligase 3,1050aa) | g.4:89607946A>G,c.2567A>G,p.N856S |
| HERC3(NM_014606,HECT and RLD domain containing E3 ubiquitin protein ligase 3,1050aa) | g.4:89599209G>A,c.2120G>A,p.R707H |
| HERC3(NM_014606,HECT and RLD domain containing E3 ubiquitin protein ligase 3,1050aa) | g.4:89599150C>G,c.2061C>G,p.F687L |
| HERC3(NM_014606,HECT and RLD domain containing E3 ubiquitin protein ligase 3,1050aa) | g.4:89597527C>A,c.1978C>A,p.Q660K |
| HERC3(NM_014606,HECT and RLD domain containing E3 ubiquitin protein ligase 3,1050aa) | g.4:89597486A>T,c.1937A>T,p.D646V |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28566562G>C,c.18C>G,p.F6L |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28566548T>C,c.32A>G,p.Q11R |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28518136G>A,c.815C>T,p.T272M |