| 基因名 | 突变 |
|---|---|
| EDEM2(NM_018217,ER degradation enhancer, mannosidase alpha-like 2,578aa) | g.20:33711831T>C,c.976A>G,p.I326V |
| EDEM2(NM_018217,ER degradation enhancer, mannosidase alpha-like 2,578aa) | g.20:33706492C>T,c.1145G>A,p.R382H |
| EDEM2(NM_018217,ER degradation enhancer, mannosidase alpha-like 2,578aa) | g.20:33703607C>T,c.1366G>A,p.A456T |
| EDEM2(NM_018217,ER degradation enhancer, mannosidase alpha-like 2,578aa) | g.20:33703523C>T,c.1450G>A,p.A484T |
| EDEM1(NM_014674,ER degradation enhancer, mannosidase alpha-like 1,657aa) | g.3:5257572G>A,c.1943G>A,p.R648Q |
| EDEM1(NM_014674,ER degradation enhancer, mannosidase alpha-like 1,657aa) | g.3:5257521G>A,c.1892G>A,p.R631H |
| EDEM1(NM_014674,ER degradation enhancer, mannosidase alpha-like 1,657aa) | g.3:5255108G>A,c.1785G>A,p.W595X |
| EDEM1(NM_014674,ER degradation enhancer, mannosidase alpha-like 1,657aa) | g.3:5255095G>C,c.1772G>C,p.R591P |
| EDEM1(NM_014674,ER degradation enhancer, mannosidase alpha-like 1,657aa) | g.3:5255025G>A,c.1702G>A,p.V568I |
| EDEM1(NM_014674,ER degradation enhancer, mannosidase alpha-like 1,657aa) | g.3:5252833A>G,c.1612A>G,p.I538V |
| EDEM1(NM_014674,ER degradation enhancer, mannosidase alpha-like 1,657aa) | g.3:5249916G>T,c.1477G>T,p.E493X |
| EDEM1(NM_014674,ER degradation enhancer, mannosidase alpha-like 1,657aa) | g.3:5244678G>A,c.886G>A,p.D296N |
| EDEM1(NM_014674,ER degradation enhancer, mannosidase alpha-like 1,657aa) | g.3:5236907A>G,c.523A>G,p.I175V |
| EDEM1(NM_014674,ER degradation enhancer, mannosidase alpha-like 1,657aa) | g.3:5229860C>G,c.370C>G,p.P124A |
| EDDM3B(NM_022360,epididymal protein 3B,147aa) | g.14:21238578G>A,c.269G>A,p.R90Q |
| EDDM3B(NM_022360,epididymal protein 3B,147aa) | g.14:21238437G>A,c.128G>A,p.R43Q |
| EDDM3B(NM_022360,epididymal protein 3B,147aa) | g.14:21238410T>C,c.101T>C,p.M34T |
| EDDM3B(NM_022360,epididymal protein 3B,147aa) | g.14:21238322C>G,c.13C>G,p.L5V |
| EDDM3A(NM_006683,epididymal protein 3A,147aa) | g.14:21216143A>T,c.404A>T,p.N135I |
| EDDM3A(NM_006683,epididymal protein 3A,147aa) | g.14:21215923G>T,c.184G>T,p.G62C |
| EDDM3A(NM_006683,epididymal protein 3A,147aa) | g.14:21215833G>C,c.94G>C,p.E32Q |
| EDC4(NM_014329,enhancer of mRNA decapping 4,1401aa) | g.16:67917000G>C,c.3769G>C,p.A1257P |
| EDC4(NM_014329,enhancer of mRNA decapping 4,1401aa) | g.16:67914848C>T,c.2486C>T,p.T829I |
| EDC4(NM_014329,enhancer of mRNA decapping 4,1401aa) | g.16:67914730G>A,c.2368G>A,p.G790S |
| EDC4(NM_014329,enhancer of mRNA decapping 4,1401aa) | g.16:67913976G>A,c.1954G>A,p.E652K |
| EDC4(NM_014329,enhancer of mRNA decapping 4,1401aa) | g.16:67913804A>G,c.1873A>G,p.S625G |
| EDC4(NM_014329,enhancer of mRNA decapping 4,1401aa) | g.16:67911677A>G,c.823A>G,p.S275G |
| EDC4(NM_014329,enhancer of mRNA decapping 4,1401aa) | g.16:67907241C>G,c.77C>G,p.A26G |