| Genename | Variants |
|---|---|
| ELOF1(NM_032377,elongation factor 1 homolog (S. cerevisiae),83aa) | g.19:11664885C>T,c.128G>A,p.R43H |
| ELN(NM_001278939,elastin,786aa) | g.7:73480328G>A,c.2272+1G>A,p.758Donor |
| ELN(NM_001278939,elastin,786aa) | g.7:73480029C>T,c.2185C>T,p.P729S |
| ELN(NM_001278939,elastin,786aa) | g.7:73474913C>A,c.1916C>A,p.T639N |
| ELN(NM_001278939,elastin,786aa) | g.7:73474880G>C,c.1883G>C,p.G628A |
| ELN(NM_001278939,elastin,786aa) | g.7:73474825G>C,c.1828G>C,p.G610R |
| ELN(NM_001278939,elastin,786aa) | g.7:73474798G>A,c.1801G>A,p.G601R |
| ELN(NM_001278939,elastin,786aa) | g.7:73471717G>A,c.1363G>A,p.A455T |
| ELN(NM_001278939,elastin,786aa) | g.7:73471008C>T,c.1322C>T,p.A441V |
| ELN(NM_001278939,elastin,786aa) | g.7:73470714G>A,c.1264G>A,p.G422S |
| ELN(NM_001278939,elastin,786aa) | g.7:73470702G>A,c.1252G>A,p.A418T |
| ELN(NM_001278939,elastin,786aa) | g.7:73470682T>G,c.1232T>G,p.V411G |
| ELN(NM_001278939,elastin,786aa) | g.7:73470612G>A,c.1162G>A,p.G388R |
| ELN(NM_001278939,elastin,786aa) | g.7:73467564G>A,c.1021G>A,p.V341I |
| ELN(NM_001278939,elastin,786aa) | g.7:73467535C>T,c.992C>T,p.P331L |
| ELN(NM_001278939,elastin,786aa) | g.7:73466295G>A,c.931G>A,p.A311T |
| ELN(NM_001278939,elastin,786aa) | g.7:73466133G>A,c.853G>A,p.V285M |
| ELN(NM_001278939,elastin,786aa) | g.7:73457316G>A,c.328G>A,p.A110T |
| ELN(NM_001278939,elastin,786aa) | g.7:73456989C>T,c.278C>T,p.P93L |
| ELN(NM_001278939,elastin,786aa) | g.7:73456970T>C,c.259T>C,p.F87L |
| ELN(NM_001278939,elastin,786aa) | g.7:73455561C>T,c.212C>T,p.A71V |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74206657C>T,c.55G>A,p.G19R |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74206611G>T,c.101C>A,p.P34H |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74206515del,c.197del,p.66fs |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74206012G>C,c.700C>G,p.P234A |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74205849A>C,c.863T>G,p.F288C |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74205656C>G,c.1056G>C,p.E352D |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74205652T>C,c.1060A>G,p.I354V |