| Genename | Variants |
|---|---|
| EDN2(NM_001956,endothelin 2,178aa) | g.1:41946790G>A,c.419C>T,p.T140I |
| EDN2(NM_001956,endothelin 2,178aa) | g.1:41945114G>A,c.503C>T,p.P168L |
| EDN1(NM_001955,endothelin 1,212aa) | g.6:12296268C>T,c.607C>T,p.R203C |
| EDN1(NM_001955,endothelin 1,212aa) | g.6:12296255G>T,c.594G>T,p.K198N |
| EDN1(NM_001955,endothelin 1,212aa) | g.6:12296217G>A,c.556G>A,p.V186I |
| EDN1(NM_001955,endothelin 1,212aa) | g.6:12294603_12294605del,c.499_501del,p.167del |
| EDN1(NM_001955,endothelin 1,212aa) | g.6:12294253C>T,c.313C>T,p.R105C |
| EDN1(NM_001955,endothelin 1,212aa) | g.6:12292628C>T,c.119C>T,p.T40I |
| EDN1(NM_001955,endothelin 1,212aa) | g.6:12292615G>A,c.106G>A,p.G36R |
| EDN1(NM_001955,endothelin 1,212aa) | g.6:12292599G>A,c.90G>A,p.A30A |
| EDIL3(NM_005711,EGF-like repeats and discoidin I-like domains 3,480aa) | g.5:83525675G>A,c.224C>T,p.A75V |
| EDIL3(NM_005711,EGF-like repeats and discoidin I-like domains 3,480aa) | g.5:83433086C>T,c.442G>A,p.E148K |
| EDIL3(NM_005711,EGF-like repeats and discoidin I-like domains 3,480aa) | g.5:83362312C>G,c.765G>C,p.K255N |
| EDIL3(NM_005711,EGF-like repeats and discoidin I-like domains 3,480aa) | g.5:83360606T>C,c.865A>G,p.I289V |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184723731G>C,c.50C>G,p.A17G |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184723721T>G,c.60A>C,p.R20S |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184703729T>C,c.394A>G,p.R132G |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184702008G>A,c.575C>T,p.P192L |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184681584T>G,c.1519A>C,p.I507L |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184681571T>C,c.1532A>G,p.N511S |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184679653G>A,c.1720C>T,p.P574S |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184679637C>T,c.1736G>A,p.R579K |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184672098G>A,c.2236C>T,p.P746S |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184663558T>C,c.2438A>G,p.Q813R |
| EDEM3(NM_025191,ER degradation enhancer, mannosidase alpha-like 3,932aa) | g.1:184663537A>C,c.2459T>G,p.I820S |
| EDEM2(NM_018217,ER degradation enhancer, mannosidase alpha-like 2,578aa) | g.20:33722573G>A,c.670C>T,p.R224C |
| EDEM2(NM_018217,ER degradation enhancer, mannosidase alpha-like 2,578aa) | g.20:33719583C>T,c.706G>A,p.G236S |
| EDEM2(NM_018217,ER degradation enhancer, mannosidase alpha-like 2,578aa) | g.20:33714106G>A,c.917C>T,p.T306I |