| 基因名 | 突变 |
|---|---|
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55070089C>T,c.1223C>T,p.S408L |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55070053A>C,c.1187A>C,p.K396T |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55068354C>T,c.1042C>T,p.R348W |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55068351C>T,c.1039C>T,p.R347W |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55067039G>A,c.982G>A,p.A328T |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55066994C>T,c.937C>T,p.R313W |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55065042G>A,c.838G>A,p.D280N |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55064980G>A,c.776G>A,p.R259H |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55064970C>T,c.766C>T,p.R256W |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55062960G>A,c.636G>A,p.M212I |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55060362G>A,c.605G>A,p.G202D |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55060251C>T,c.494C>T,p.P165L |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55050418C>T,c.124C>T,p.R42W |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55050380C>T,c.86C>T,p.A29V |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55050361C>T,c.67C>T,p.R23W |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55050353G>A,c.59G>A,p.R20H |
| ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) | g.1:55014013C>T,c.31C>T,p.R11W |
| ACO2(NM_001098,aconitase 2, mitochondrial,780aa) | g.22:41919850G>T,c.1387G>T,p.G463W |
| ACO2(NM_001098,aconitase 2, mitochondrial,780aa) | g.22:41919850G>C,c.1387G>C,p.G463R |
| ACO2(NM_001098,aconitase 2, mitochondrial,780aa) | g.22:41916191A>G,c.1049A>G,p.N350S |
| ACO2(NM_001098,aconitase 2, mitochondrial,780aa) | g.22:41914532C>T,c.988C>T,p.P330S |
| ACO2(NM_001098,aconitase 2, mitochondrial,780aa) | g.22:41914494A>G,c.950A>G,p.N317S |
| ACO2(NM_001098,aconitase 2, mitochondrial,780aa) | g.22:41903841C>G,c.220C>G,p.L74V |
| ACO2(NM_001098,aconitase 2, mitochondrial,780aa) | g.22:41895745C>T,c.52C>T,p.R18W |
| ACO2(NM_001098,aconitase 2, mitochondrial,780aa) | g.22:41865176C>T,c.26C>T,p.T9I |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32450092C>T,c.2653C>T,p.R885C |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32449000C>A,c.2477C>A,p.A826D |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32448996G>C,c.2473G>C,p.D825H |