| 基因名 | 突变 |
|---|---|
| EHMT1(NM_024757,euchromatic histone-lysine N-methyltransferase 1,1298aa) | g.9:140611491G>A,c.499G>A,p.A167T |
| EHMT1(NM_024757,euchromatic histone-lysine N-methyltransferase 1,1298aa) | g.9:140611146G>A,c.154G>A,p.G52S |
| EHMT1(NM_024757,euchromatic histone-lysine N-methyltransferase 1,1298aa) | g.9:140611140G>A,c.148G>A,p.A50T |
| EHMT1(NM_024757,euchromatic histone-lysine N-methyltransferase 1,1298aa) | g.9:140605429C>T,c.32C>T,p.A11V |
| EHMT1(NM_024757,euchromatic histone-lysine N-methyltransferase 1,1298aa) | g.9:140605420C>T,c.23C>T,p.A8V |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184953127C>T,c.14G>A,p.G5E |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184947298G>T,c.97C>A,p.L33I |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184922506A>C,c.320T>G,p.I107S |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184922401T>A,c.425A>T,p.Q142L |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184922351G>C,c.475C>G,p.L159V |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184922294C>T,c.532G>A,p.A178T |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184911123C>T,c.775G>A,p.G259S |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184910916G>A,c.982C>T,p.R328C |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184910535G>A,c.1363C>T,p.R455X |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184910534C>T,c.1364G>A,p.R455Q |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184910322G>A,c.1576C>T,p.R526C |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184910289G>A,c.1609C>T,p.R537C |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184910248A>C,c.1650T>G,p.I550M |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184910133G>T,c.1765C>A,p.Q589K |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184910078G>A,c.1820C>T,p.S607F |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184910069T>A,c.1829A>T,p.N610I |
| EHHADH(NM_001166415,enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase,627aa) | g.3:184910042A>G,c.1856T>C,p.L619S |
| EHF(NM_001206616,ets homologous factor,322aa) | g.11:34680178G>A,c.772G>A,p.V258I |
| EHF(NM_001206616,ets homologous factor,322aa) | g.11:34668175C>T,c.353C>T,p.A118V |
| EHF(NM_001206616,ets homologous factor,322aa) | g.11:34668154G>A,c.332G>A,p.S111N |
| EHF(NM_001206616,ets homologous factor,322aa) | g.11:34654157_34654158insG,c.21_22insG,p.7fs |
| EHD4(NM_139265,EH-domain containing 4,541aa) | g.15:42235339T>C,c.437A>G,p.N146S |
| EHD4(NM_139265,EH-domain containing 4,541aa) | g.15:42235316C>T,c.460G>A,p.V154I |