| 基因名 | 突变 |
|---|---|
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1219769G>A,c.1528G>A,p.G510S |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1219662C>T,c.1421C>T,p.T474M |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1219647T>C,c.1406T>C,p.I469T |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1216996C>T,c.1109C>T,p.S370F |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1216788G>A,c.1003G>A,p.D335N |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1216767C>T,c.982C>T,p.R328C |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1214087C>T,c.794C>T,p.P265L |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1213668G>A,c.754G>A,p.V252I |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1213653G>A,c.739G>A,p.A247T |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1212453G>A,c.517G>A,p.D173N |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1208876C>T,c.218C>T,p.P73L |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1201935G>A,c.170G>A,p.R57H |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1201812C>T,c.47C>T,p.P16L |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1201806G>A,c.41G>A,p.R14Q |
| SLC6A19(NM_001003841,solute carrier family 6 (neutral amino acid transporter), member 19,634aa) | g.5:1201793G>A,c.28G>A,p.G10S |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1244801_1244802insCTG,c.1575_1576insCTG,p.525_526ins1aa |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1244758G>A,c.1532G>A,p.R511Q |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1244478G>A,c.1486G>A,p.G496R |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1244425C>T,c.1433C>T,p.P478L |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1244328G>A,c.1337-1G>A,p.446Acceptor |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1243748A>G,c.1210A>G,p.M404V |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1243716A>T,c.1178A>T,p.D393V |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1240757C>G,c.957C>G,p.Y319X |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1240749A>G,c.949A>G,p.N317D |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1239671C>T,c.839C>T,p.S280L |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1239581_1239582insC,c.749_750insC,p.250fs |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1239577C>T,c.745C>T,p.Q249X |
| SLC6A18(NM_182632,solute carrier family 6 (neutral amino acid transporter), member 18,628aa) | g.5:1235744G>A,c.588G>A,p.M196I |