| 基因名 | 突变 |
|---|---|
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751914del,c.1981del,p.661fs |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751869G>T,c.1936G>T,p.A646S |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751343G>A,c.1769G>A,p.R590H |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751342C>T,c.1768C>T,p.R590C |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751330C>T,c.1756C>T,p.R586C |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751312G>A,c.1738G>A,p.D580N |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751311C>G,c.1737C>G,p.C579W |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751267C>T,c.1693C>T,p.R565W |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751247A>G,c.1673A>G,p.K558R |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750994G>A,c.1553G>A,p.R518Q |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750964G>C,c.1523G>C,p.R508P |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750802G>A,c.1468G>A,p.A490T |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750797G>A,c.1463G>A,p.R488Q |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750769G>A,c.1435G>A,p.V479M |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750719G>A,c.1385G>A,p.R462H |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750715C>T,c.1381C>T,p.R461W |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750707G>A,c.1373G>A,p.R458H |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750689G>A,c.1355G>A,p.R452H |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750682G>A,c.1348G>A,p.G450R |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750665G>A,c.1331G>A,p.R444Q |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750664C>T,c.1330C>T,p.R444W |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750653_153750654insC,c.1319_1320insC,p.440fs |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750650G>A,c.1316G>A,p.R439H |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750339G>A,c.1280G>A,p.R427Q |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750324T>C,c.1265T>C,p.I422T |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153750267C>T,c.1208C>T,p.S403L |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153749555C>T,c.1036C>T,p.R346W |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153749538G>T,c.1019G>T,p.G340V |