| 基因名 | 突变 |
|---|---|
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20491926G>A,c.1313G>A,p.R438Q |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20489919G>A,c.1201G>A,p.V401I |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20489898A>C,c.1180A>C,p.I394L |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20487000G>A,c.1003G>A,p.V335I |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20482927G>C,c.810G>C,p.L270F |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20482523del,c.725del,p.242fs |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20482463G>C,c.665G>C,p.S222T |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20480944G>A,c.499G>A,p.V167M |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20480836C>G,c.391C>G,p.L131V |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20477021G>A,c.360G>A,p.W120X |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20477004C>T,c.343C>T,p.R115X |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20476960C>T,c.299C>T,p.A100V |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20476893G>A,c.232G>A,p.E78K |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20476852T>C,c.191T>C,p.L64P |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20476840C>T,c.179C>T,p.A60V |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20471487G>C,c.51G>C,p.Q17H |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20471450G>A,c.14G>A,p.R5Q |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20702423G>A,c.88C>T,p.R30W |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20693767G>A,c.422C>T,p.A141V |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20693743T>A,c.446A>T,p.D149V |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20693663C>G,c.526G>C,p.A176P |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20693591G>A,c.598C>T,p.R200X |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20682893G>A,c.712C>T,p.H238Y |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20681267C>T,c.794G>A,p.C265Y |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20648694T>C,c.1196A>G,p.Q399R |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20638592T>C,c.1346A>G,p.N449S |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20638535C>T,c.1403G>A,p.S468N |
| ACSM1(NM_052956,acyl-CoA synthetase medium-chain family member 1,577aa) | g.16:20636837T>C,c.1435A>G,p.I479V |