| 基因名 | 突变 |
|---|---|
| ELP2(NM_001242875,elongator acetyltransferase complex subunit 2,891aa) | g.18:33736490T>C,c.1532T>C,p.M511T |
| ELP2(NM_001242875,elongator acetyltransferase complex subunit 2,891aa) | g.18:33726295A>G,c.1271A>G,p.H424R |
| ELP2(NM_001242875,elongator acetyltransferase complex subunit 2,891aa) | g.18:33725931G>A,c.1108G>A,p.V370M |
| ELP2(NM_001242875,elongator acetyltransferase complex subunit 2,891aa) | g.18:33722921A>G,c.983A>G,p.E328G |
| ELP2(NM_001242875,elongator acetyltransferase complex subunit 2,891aa) | g.18:33722825G>A,c.887G>A,p.C296Y |
| ELP2(NM_001242875,elongator acetyltransferase complex subunit 2,891aa) | g.18:33719409G>T,c.551G>T,p.R184L |
| ELP2(NM_001242875,elongator acetyltransferase complex subunit 2,891aa) | g.18:33719385C>T,c.527C>T,p.T176I |
| ELP2(NM_001242875,elongator acetyltransferase complex subunit 2,891aa) | g.18:33718326A>C,c.382A>C,p.T128P |
| ELOVL7(NM_024930,ELOVL fatty acid elongase 7,281aa) | g.5:60083166T>C,c.59A>G,p.D20G |
| ELOVL7(NM_024930,ELOVL fatty acid elongase 7,281aa) | g.5:60067776G>A,c.209C>T,p.T70M |
| ELOVL7(NM_024930,ELOVL fatty acid elongase 7,281aa) | g.5:60067762T>C,c.223A>G,p.I75V |
| ELOVL7(NM_024930,ELOVL fatty acid elongase 7,281aa) | g.5:60060089G>A,c.464C>T,p.P155L |
| ELOVL7(NM_024930,ELOVL fatty acid elongase 7,281aa) | g.5:60050581G>A,c.716C>T,p.A239V |
| ELOVL7(NM_024930,ELOVL fatty acid elongase 7,281aa) | g.5:60050522G>A,c.775C>T,p.R259C |
| ELOVL5(NM_001242828,ELOVL fatty acid elongase 5,326aa) | g.6:53152683G>A,c.304C>T,p.Q102X |
| ELOVL5(NM_001242828,ELOVL fatty acid elongase 5,326aa) | g.6:53138061C>T,c.659G>A,p.R220H |
| ELOVL5(NM_001242828,ELOVL fatty acid elongase 5,326aa) | g.6:53135449T>C,c.779A>G,p.Y260C |
| ELOVL4(NM_022726,ELOVL fatty acid elongase 4,314aa) | g.6:80631513T>C,c.370A>G,p.I124V |
| ELOVL4(NM_022726,ELOVL fatty acid elongase 4,314aa) | g.6:80626470A>G,c.800T>C,p.I267T |
| ELOVL4(NM_022726,ELOVL fatty acid elongase 4,314aa) | g.6:80626456C>G,c.814G>C,p.E272Q |
| ELOVL4(NM_022726,ELOVL fatty acid elongase 4,314aa) | g.6:80626375T>C,c.895A>G,p.M299V |
| ELOVL3(NM_152310,ELOVL fatty acid elongase 3,270aa) | g.10:103988606G>A,c.410G>A,p.R137H |
| ELOVL3(NM_152310,ELOVL fatty acid elongase 3,270aa) | g.10:103988265G>A,c.325G>A,p.D109N |
| ELOVL3(NM_152310,ELOVL fatty acid elongase 3,270aa) | g.10:103988220C>T,c.280C>T,p.L94F |
| ELOVL2(NM_017770,ELOVL fatty acid elongase 2,296aa) | g.6:11005622C>T,c.238G>A,p.A80T |
| ELOVL2(NM_017770,ELOVL fatty acid elongase 2,296aa) | g.6:10990031C>T,c.670G>A,p.V224I |
| ELOVL2(NM_017770,ELOVL fatty acid elongase 2,296aa) | g.6:10989941C>T,c.760G>A,p.V254I |
| ELOVL2(NM_017770,ELOVL fatty acid elongase 2,296aa) | g.6:10984121T>C,c.784A>G,p.M262V |