| 基因名 | 突变 |
|---|---|
| ETFDH(NM_004453,electron-transferring-flavoprotein dehydrogenase,617aa) | g.4:159627430C>T,c.1375C>T,p.H459Y |
| ETFDH(NM_004453,electron-transferring-flavoprotein dehydrogenase,617aa) | g.4:159606351C>G,c.586C>G,p.P196A |
| ETFDH(NM_004453,electron-transferring-flavoprotein dehydrogenase,617aa) | g.4:159606289G>T,c.524G>T,p.R175L |
| ETFDH(NM_004453,electron-transferring-flavoprotein dehydrogenase,617aa) | g.4:159606289G>A,c.524G>A,p.R175H |
| ETFDH(NM_004453,electron-transferring-flavoprotein dehydrogenase,617aa) | g.4:159603560A>T,c.389A>T,p.D130V |
| ETFDH(NM_004453,electron-transferring-flavoprotein dehydrogenase,617aa) | g.4:159603421G>A,c.250G>A,p.A84T |
| ETFDH(NM_004453,electron-transferring-flavoprotein dehydrogenase,617aa) | g.4:159601726A>G,c.142A>G,p.I48V |
| ETFDH(NM_004453,electron-transferring-flavoprotein dehydrogenase,617aa) | g.4:159601676C>T,c.92C>T,p.T31I |
| ETFB(NM_001014763,electron-transfer-flavoprotein, beta polypeptide,346aa) | g.19:51857874_51857875insCCACAG,c.18_19insCTGTGG,p.6_7ins2aa |
| ETFB(NM_001014763,electron-transfer-flavoprotein, beta polypeptide,346aa) | g.19:51857774T>G,c.119A>C,p.E40A |
| ETFB(NM_001014763,electron-transfer-flavoprotein, beta polypeptide,346aa) | g.19:51857738G>A,c.155C>T,p.P52L |
| ETFB(NM_001014763,electron-transfer-flavoprotein, beta polypeptide,346aa) | g.19:51857688C>T,c.205G>A,p.G69R |
| ETFB(NM_001014763,electron-transfer-flavoprotein, beta polypeptide,346aa) | g.19:51857658C>T,c.235G>A,p.V79I |
| ETFB(NM_001014763,electron-transfer-flavoprotein, beta polypeptide,346aa) | g.19:51857614_51857615insG,c.278_279insC,p.93fs |
| ETFB(NM_001014763,electron-transfer-flavoprotein, beta polypeptide,346aa) | g.19:51850299G>A,c.725C>T,p.S242F |
| ETFB(NM_001014763,electron-transfer-flavoprotein, beta polypeptide,346aa) | g.19:51850290G>A,c.734C>T,p.T245M |
| ETFB(NM_001014763,electron-transfer-flavoprotein, beta polypeptide,346aa) | g.19:51850174C>T,c.850G>A,p.A284T |
| ETFA(NM_000126,electron-transfer-flavoprotein, alpha polypeptide,333aa) | g.15:76584773T>C,c.350A>G,p.K117R |
| ETFA(NM_000126,electron-transfer-flavoprotein, alpha polypeptide,333aa) | g.15:76578762G>A,c.512C>T,p.T171I |
| ETFA(NM_000126,electron-transfer-flavoprotein, alpha polypeptide,333aa) | g.15:76578741G>C,c.533C>G,p.T178R |
| ETFA(NM_000126,electron-transfer-flavoprotein, alpha polypeptide,333aa) | g.15:76523730T>G,c.826A>C,p.I276L |
| ETFA(NM_000126,electron-transfer-flavoprotein, alpha polypeptide,333aa) | g.15:76518234T>C,c.919A>G,p.I307V |
| ETF1(NM_001256302,eukaryotic translation termination factor 1,404aa) | g.5:137844473C>T,c.1017G>A,p.M339I |
| ETAA1(NM_019002,Ewing tumor-associated antigen 1,926aa) | g.2:67637150G>A,c.2761G>A,p.A921T |
| ETAA1(NM_019002,Ewing tumor-associated antigen 1,926aa) | g.2:67632125C>T,c.2311C>T,p.P771S |
| ETAA1(NM_019002,Ewing tumor-associated antigen 1,926aa) | g.2:67632104A>C,c.2290A>C,p.N764H |
| ETAA1(NM_019002,Ewing tumor-associated antigen 1,926aa) | g.2:67631958C>T,c.2144C>T,p.P715L |
| ETAA1(NM_019002,Ewing tumor-associated antigen 1,926aa) | g.2:67631831G>A,c.2017G>A,p.E673K |