| 基因名 | 突变 |
|---|---|
| ACSM3(NM_005622,acyl-CoA synthetase medium-chain family member 3,586aa) | g.16:20781489T>C,c.133T>C,p.S45P |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20576106C>T,c.62G>A,p.R21H |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20570756A>G,c.191T>C,p.L64P |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20570661T>C,c.286A>G,p.I96V |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20563528T>C,c.832A>G,p.T278A |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20559777T>C,c.913A>G,p.I305V |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20559726C>T,c.964G>A,p.D322N |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20559457A>G,c.1025T>C,p.L342P |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20559410G>A,c.1072C>T,p.R358X |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20559403A>G,c.1079T>C,p.F360S |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20556528C>T,c.1232G>A,p.G411D |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20556498C>T,c.1262G>A,p.G421D |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20554560T>A,c.1306A>T,p.N436Y |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20554542A>G,c.1324T>C,p.W442R |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20554485G>A,c.1381C>T,p.R461W |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20554273G>A,c.1472C>T,p.T491M |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20552094A>G,c.1511T>C,p.V504A |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20551995G>A,c.1610C>T,p.P537L |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20551976C>G,c.1629G>C,p.K543N |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20548662G>C,c.1652C>G,p.P551R |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20548591G>A,c.1723C>T,p.R575C |
| ACSM2B(NM_182617,acyl-CoA synthetase medium-chain family member 2B,577aa) | g.16:20548590C>T,c.1724G>A,p.R575H |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20497993C>T,c.1727C>T,p.A576V |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20497944C>T,c.1678C>T,p.R560X |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20494408C>T,c.1538C>T,p.S513L |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20492206C>T,c.1472C>T,p.T491M |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20492000A>G,c.1387A>G,p.N463D |
| ACSM2A(NM_001010845,acyl-CoA synthetase medium-chain family member 2A,577aa) | g.16:20491952C>T,c.1339C>T,p.R447W |