| 基因名 | 突变 |
|---|---|
| HES3(NM_001024598,hairy and enhancer of split 3 (Drosophila),186aa) | g.1:6305201A>C,c.195A>C,p.Q65H |
| HES3(NM_001024598,hairy and enhancer of split 3 (Drosophila),186aa) | g.1:6304454A>G,c.29A>G,p.N10S |
| HES2(NM_019089,hairy and enhancer of split 2 (Drosophila),173aa) | g.1:6479040G>A,c.415C>T,p.P139S |
| HERPUD2(NM_022373,HERPUD family member 2,406aa) | g.7:35709854G>T,c.310C>A,p.H104N |
| HERPUD2(NM_022373,HERPUD family member 2,406aa) | g.7:35709842C>T,c.322G>A,p.A108T |
| HERPUD2(NM_022373,HERPUD family member 2,406aa) | g.7:35709841G>C,c.323C>G,p.A108G |
| HERPUD2(NM_022373,HERPUD family member 2,406aa) | g.7:35707069G>A,c.469C>T,p.H157Y |
| HERPUD2(NM_022373,HERPUD family member 2,406aa) | g.7:35678023G>A,c.554C>T,p.A185V |
| HERPUD2(NM_022373,HERPUD family member 2,406aa) | g.7:35677978T>A,c.599A>T,p.H200L |
| HERPUD2(NM_022373,HERPUD family member 2,406aa) | g.7:35674884T>C,c.802A>G,p.N268D |
| HERPUD1(NM_014685,homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1,391aa) | g.16:56973986G>A,c.734G>A,p.R245Q |
| HERPUD1(NM_014685,homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1,391aa) | g.16:56969380A>G,c.293A>G,p.N98S |
| HERPUD1(NM_014685,homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1,391aa) | g.16:56969148G>A,c.149G>A,p.R50H |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89361055A>G,c.2585A>G,p.Y862C |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89358115C>T,c.2476C>T,p.R826C |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89358080A>C,c.2441A>C,p.D814A |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89352440A>C,c.2233A>C,p.M745L |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89345760C>T,c.1841C>T,p.T614I |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89338731G>T,c.1713G>T,p.K571N |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89326026A>G,c.1093-2A>G,p.365Acceptor |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89319296T>C,c.1027T>C,p.F343L |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89318061C>T,c.946C>T,p.P316S |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89317197C>T,c.790C>T,p.R264C |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89314687G>A,c.712G>A,p.V238M |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89311994T>A,c.627T>A,p.S209R |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89311962T>C,c.595T>C,p.C199R |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89306664C>G,c.373C>G,p.L125V |
| HERC6(NM_017912,HECT and RLD domain containing E3 ubiquitin protein ligase family member 6,1022aa) | g.4:89306659T>C,c.368T>C,p.M123T |