| Genename | Variants |
|---|---|
| ECM1(NM_001202858,extracellular matrix protein 1,567aa) | g.1:150483520G>A,c.635G>A,p.R212H |
| ECM1(NM_001202858,extracellular matrix protein 1,567aa) | g.1:150483355C>T,c.470C>T,p.T157M |
| ECM1(NM_001202858,extracellular matrix protein 1,567aa) | g.1:150482470del,c.377del,p.126fs |
| ECM1(NM_001202858,extracellular matrix protein 1,567aa) | g.1:150482173G>A,c.158G>A,p.R53Q |
| ECM1(NM_001202858,extracellular matrix protein 1,567aa) | g.1:150482145G>A,c.130G>A,p.A44T |
| ECM1(NM_001202858,extracellular matrix protein 1,567aa) | g.1:150482013C>T,c.77C>T,p.T26M |
| ECI2(NM_001166010,enoyl-CoA delta isomerase 2,364aa) | g.6:4133857T>C,c.49A>G,p.M17V |
| ECI2(NM_001166010,enoyl-CoA delta isomerase 2,364aa) | g.6:4133855C>T,c.51G>A,p.M17I |
| ECI2(NM_001166010,enoyl-CoA delta isomerase 2,364aa) | g.6:4130617T>C,c.400A>G,p.I134V |
| ECI2(NM_001166010,enoyl-CoA delta isomerase 2,364aa) | g.6:4126459T>C,c.494A>G,p.Y165C |
| ECI2(NM_001166010,enoyl-CoA delta isomerase 2,364aa) | g.6:4126379C>T,c.574G>A,p.V192I |
| ECI2(NM_001166010,enoyl-CoA delta isomerase 2,364aa) | g.6:4125551T>C,c.638A>G,p.N213S |
| ECI2(NM_001166010,enoyl-CoA delta isomerase 2,364aa) | g.6:4117676T>C,c.805A>G,p.M269V |
| ECI2(NM_001166010,enoyl-CoA delta isomerase 2,364aa) | g.6:4116262G>A,c.941C>T,p.A314V |
| ECI1(NM_001919,enoyl-CoA delta isomerase 1,302aa) | g.16:2296927G>A,c.227C>T,p.T76M |
| ECI1(NM_001919,enoyl-CoA delta isomerase 1,302aa) | g.16:2296877C>T,c.277G>A,p.G93S |
| ECI1(NM_001919,enoyl-CoA delta isomerase 1,302aa) | g.16:2294549C>T,c.299G>A,p.R100H |
| ECI1(NM_001919,enoyl-CoA delta isomerase 1,302aa) | g.16:2294514C>T,c.334G>A,p.E112K |
| ECI1(NM_001919,enoyl-CoA delta isomerase 1,302aa) | g.16:2293209C>T,c.580G>A,p.E194K |
| ECI1(NM_001919,enoyl-CoA delta isomerase 1,302aa) | g.16:2290128G>A,c.761C>T,p.T254I |
| ECI1(NM_001919,enoyl-CoA delta isomerase 1,302aa) | g.16:2290104G>A,c.785C>T,p.T262M |
| ECHS1(NM_004092,enoyl CoA hydratase, short chain, 1, mitochondrial,290aa) | g.10:135186806A>G,c.32T>C,p.V11A |
| ECHS1(NM_004092,enoyl CoA hydratase, short chain, 1, mitochondrial,290aa) | g.10:135184126G>A,c.224C>T,p.T75I |
| ECHS1(NM_004092,enoyl CoA hydratase, short chain, 1, mitochondrial,290aa) | g.10:135182452C>T,c.489G>A,p.P163P |
| ECHDC3(NM_024693,enoyl CoA hydratase domain containing 3,303aa) | g.10:11805494C>T,c.863C>T,p.T288M |
| ECHDC3(NM_024693,enoyl CoA hydratase domain containing 3,303aa) | g.10:11805487G>A,c.856G>A,p.G286S |
| ECHDC3(NM_024693,enoyl CoA hydratase domain containing 3,303aa) | g.10:11805335G>A,c.704G>A,p.R235Q |
| ECHDC3(NM_024693,enoyl CoA hydratase domain containing 3,303aa) | g.10:11805311C>T,c.680C>T,p.A227V |