| 基因名 | 突变 |
|---|---|
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153748239G>A,c.407G>A,p.R136Q |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153748161G>C,c.329G>C,p.G110A |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153748103A>G,c.271A>G,p.R91G |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153747981C>T,c.149C>T,p.A50V |
| SLC27A3(NM_024330,solute carrier family 27 (fatty acid transporter), member 3,730aa) | g.1:153747978C>T,c.146C>T,p.A49V |
| SLC27A2(NM_003645,solute carrier family 27 (fatty acid transporter), member 2,620aa) | g.15:50526123T>A,c.1614T>A,p.D538E |
| SLC27A2(NM_003645,solute carrier family 27 (fatty acid transporter), member 2,620aa) | g.15:50521203G>T,c.1519G>T,p.V507F |
| SLC27A2(NM_003645,solute carrier family 27 (fatty acid transporter), member 2,620aa) | g.15:50519322G>T,c.1404G>T,p.M468I |
| SLC27A2(NM_003645,solute carrier family 27 (fatty acid transporter), member 2,620aa) | g.15:50518218G>A,c.1201G>A,p.V401M |
| SLC27A2(NM_003645,solute carrier family 27 (fatty acid transporter), member 2,620aa) | g.15:50494779A>G,c.784A>G,p.I262V |
| SLC27A2(NM_003645,solute carrier family 27 (fatty acid transporter), member 2,620aa) | g.15:50474766A>C,c.142A>C,p.K48Q |
| SLC27A1(NM_198580,solute carrier family 27 (fatty acid transporter), member 1,646aa) | g.19:17615407G>A,c.1927G>A,p.A643T |
| SLC27A1(NM_198580,solute carrier family 27 (fatty acid transporter), member 1,646aa) | g.19:17615314C>T,c.1834C>T,p.R612C |
| SLC27A1(NM_198580,solute carrier family 27 (fatty acid transporter), member 1,646aa) | g.19:17615285C>T,c.1805C>T,p.T602M |
| SLC27A1(NM_198580,solute carrier family 27 (fatty acid transporter), member 1,646aa) | g.19:17612186C>T,c.1741C>T,p.R581W |
| SLC27A1(NM_198580,solute carrier family 27 (fatty acid transporter), member 1,646aa) | g.19:17597661A>T,c.457A>T,p.M153L |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205902109C>T,c.229G>A,p.G77S |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205901160G>T,c.380C>A,p.T127N |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205901152C>T,c.388G>A,p.V130I |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205901061A>G,c.479T>C,p.V160A |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205901026C>T,c.514G>A,p.V172M |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205898477A>G,c.725T>C,p.I242T |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205897130A>G,c.1001T>C,p.I334T |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205897047C>T,c.1084G>A,p.D362N |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205892259C>T,c.1724G>A,p.R575Q |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205892250C>T,c.1733G>A,p.R578K |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205890932G>A,c.1817C>T,p.P606L |
| SLC26A9(NM_052934,solute carrier family 26 (anion exchanger), member 9,791aa) | g.1:205889325C>T,c.2089G>A,p.V697I |