| 基因名 | 突变 |
|---|---|
| SLC27A5(NM_012254,solute carrier family 27 (fatty acid transporter), member 5,690aa) | g.19:59022995G>A,c.328C>T,p.R110W |
| SLC27A5(NM_012254,solute carrier family 27 (fatty acid transporter), member 5,690aa) | g.19:59022682G>A,c.641C>T,p.A214V |
| SLC27A5(NM_012254,solute carrier family 27 (fatty acid transporter), member 5,690aa) | g.19:59022243C>T,c.743G>A,p.R248H |
| SLC27A5(NM_012254,solute carrier family 27 (fatty acid transporter), member 5,690aa) | g.19:59021241C>T,c.1030G>A,p.V344I |
| SLC27A5(NM_012254,solute carrier family 27 (fatty acid transporter), member 5,690aa) | g.19:59012675C>T,c.1160G>A,p.R387Q |
| SLC27A5(NM_012254,solute carrier family 27 (fatty acid transporter), member 5,690aa) | g.19:59012027C>T,c.1229G>A,p.G410E |
| SLC27A5(NM_012254,solute carrier family 27 (fatty acid transporter), member 5,690aa) | g.19:59010910A>G,c.1616T>C,p.M539T |
| SLC27A5(NM_012254,solute carrier family 27 (fatty acid transporter), member 5,690aa) | g.19:59009949G>C,c.2006C>G,p.A669G |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131118049G>A,c.1748G>A,p.R583H |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131118033C>T,c.1732C>T,p.R578C |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131117417C>G,c.1410C>G,p.N470K |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131117383G>A,c.1376G>A,p.R459H |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131115733G>A,c.1237G>A,p.V413M |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131115443A>G,c.1127A>G,p.H376R |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131115368A>G,c.1052A>G,p.N351S |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131110892G>A,c.625G>A,p.G209S |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131107754G>A,c.482G>A,p.R161Q |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131107720G>A,c.448G>A,p.G150S |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131107679G>A,c.407G>A,p.R136H |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131107634G>A,c.362G>A,p.R121Q |
| SLC27A4(NM_005094,solute carrier family 27 (fatty acid transporter), member 4,643aa) | g.9:131107537G>A,c.265G>A,p.D89N |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153752449G>A,c.2164G>A,p.A722T |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153752441G>A,c.2156G>A,p.R719Q |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153752395G>A,c.2110G>A,p.V704I |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153752365G>A,c.2080G>A,p.D694N |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153752324C>G,c.2039C>G,p.T680S |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751933G>A,c.2000G>A,p.R667Q |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153751927G>A,c.1994G>A,p.R665Q |