
| 基因名 | 突变 |
|---|---|
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28518112C>A,c.839G>T,p.S280I |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28517492C>A,c.952G>T,p.D318Y |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28515989T>C,c.1109A>G,p.N370S |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28515893C>T,c.1205G>A,p.R402H |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28502335T>C,c.2389A>G,p.M797V |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28501349C>T,c.2632G>A,p.V878M |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28501123G>C,c.2766C>G,p.N922K |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28493800G>A,c.3133C>T,p.R1045C |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28493737A>G,c.3196T>C,p.Y1066H |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28482253G>C,c.3859C>G,p.Q1287E |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28479425G>A,c.4009C>T,p.L1337F |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28478342C>T,c.4625G>A,p.R1542H |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28475625G>A,c.4697C>T,p.T1566M |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28474686G>C,c.5040C>G,p.S1680R |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28474400C>G,c.5213G>C,p.W1738S |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28474388T>A,c.5225A>T,p.N1742I |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28473387G>A,c.5441C>T,p.T1814M |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28460885C>T,c.6092G>A,p.R2031Q |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28459403C>T,c.6374G>A,p.R2125Q |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28459401G>A,c.6376C>T,p.R2126C |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28459400C>A,c.6377G>T,p.R2126L |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28459244A>C,c.6533T>G,p.F2178C |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28459094C>T,c.6580G>A,p.D2194N |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28447562A>G,c.7411T>C,p.S2471P |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28446643T>C,c.7675A>G,p.S2559G |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28437288G>A,c.8270C>T,p.A2757V |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28437229T>C,c.8329A>G,p.M2777V |
| HERC2(NM_004667,HECT and RLD domain containing E3 ubiquitin protein ligase 2,4834aa) | g.15:28427617G>A,c.8867C>T,p.T2956M |