| 基因名 | 突变 |
|---|---|
| ACSM5(NM_017888,acyl-CoA synthetase medium-chain family member 5,579aa) | g.16:20435314C>T,c.844C>T,p.L282F |
| ACSM5(NM_017888,acyl-CoA synthetase medium-chain family member 5,579aa) | g.16:20435240G>A,c.770G>A,p.R257Q |
| ACSM5(NM_017888,acyl-CoA synthetase medium-chain family member 5,579aa) | g.16:20432665C>G,c.709C>G,p.P237A |
| ACSM5(NM_017888,acyl-CoA synthetase medium-chain family member 5,579aa) | g.16:20432605A>G,c.649A>G,p.M217V |
| ACSM5(NM_017888,acyl-CoA synthetase medium-chain family member 5,579aa) | g.16:20430678G>A,c.544G>A,p.E182K |
| ACSM5(NM_017888,acyl-CoA synthetase medium-chain family member 5,579aa) | g.16:20429546C>T,c.370C>T,p.R124W |
| ACSM5(NM_017888,acyl-CoA synthetase medium-chain family member 5,579aa) | g.16:20429391G>A,c.215G>A,p.R72H |
| ACSM5(NM_017888,acyl-CoA synthetase medium-chain family member 5,579aa) | g.16:20423000G>A,c.194G>A,p.R65Q |
| ACSM5(NM_017888,acyl-CoA synthetase medium-chain family member 5,579aa) | g.16:20422851C>A,c.45C>A,p.N15K |
| ACSM4(NM_001080454,acyl-CoA synthetase medium-chain family member 4,580aa) | g.12:7479600C>A,c.1565C>A,p.A522E |
| ACSM4(NM_001080454,acyl-CoA synthetase medium-chain family member 4,580aa) | g.12:7477186C>T,c.1528C>T,p.R510C |
| ACSM4(NM_001080454,acyl-CoA synthetase medium-chain family member 4,580aa) | g.12:7476145T>G,c.1297T>G,p.S433A |
| ACSM4(NM_001080454,acyl-CoA synthetase medium-chain family member 4,580aa) | g.12:7476127C>T,c.1279C>T,p.R427W |
| ACSM4(NM_001080454,acyl-CoA synthetase medium-chain family member 4,580aa) | g.12:7475130C>T,c.1118C>T,p.T373M |
| ACSM4(NM_001080454,acyl-CoA synthetase medium-chain family member 4,580aa) | g.12:7475081C>T,c.1069C>T,p.Q357X |
| ACSM4(NM_001080454,acyl-CoA synthetase medium-chain family member 4,580aa) | g.12:7469737G>A,c.625G>A,p.A209T |
| ACSM4(NM_001080454,acyl-CoA synthetase medium-chain family member 4,580aa) | g.12:7463324G>T,c.602G>T,p.S201I |
| ACSM4(NM_001080454,acyl-CoA synthetase medium-chain family member 4,580aa) | g.12:7457072C>T,c.145C>T,p.P49S |
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20802007C>G,c.1323C>G,p.Y441X |
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20796395T>C,c.1109T>C,p.L370P |
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20796387G>C,c.1101G>C,p.K367N |
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20793084A>G,c.994A>G,p.M332V |
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20793081C>T,c.991C>T,p.R331X |
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20792321G>C,c.808G>C,p.D270H |
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20792316C>G,c.803C>G,p.P268R |
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20792122C>T,c.725C>T,p.P242L |
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20788887T>C,c.623T>C,p.L208P |
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20787240T>C,c.299T>C,p.L100P |