| 基因名 | 突变 |
|---|---|
| SLC43A1(NM_003627,solute carrier family 43 (amino acid system L transporter), member 1,559aa) | g.11:57256737T>C,c.1322A>G,p.N441S |
| SLC41A3(NM_017836,solute carrier family 41, member 3,487aa) | g.3:125786879T>C,c.184A>G,p.T62A |
| SLC41A3(NM_017836,solute carrier family 41, member 3,487aa) | g.3:125786852C>T,c.211G>A,p.V71M |
| SLC41A3(NM_017836,solute carrier family 41, member 3,487aa) | g.3:125741740T>G,c.634A>C,p.K212Q |
| SLC41A3(NM_017836,solute carrier family 41, member 3,487aa) | g.3:125735698G>T,c.766C>A,p.L256M |
| SLC41A3(NM_017836,solute carrier family 41, member 3,487aa) | g.3:125735679G>A,c.785C>T,p.A262V |
| SLC41A3(NM_017836,solute carrier family 41, member 3,487aa) | g.3:125735629C>T,c.835G>A,p.V279M |
| SLC41A3(NM_017836,solute carrier family 41, member 3,487aa) | g.3:125734388C>T,c.919G>A,p.V307I |
| SLC41A3(NM_017836,solute carrier family 41, member 3,487aa) | g.3:125734340A>T,c.967T>A,p.C323S |
| SLC41A3(NM_017836,solute carrier family 41, member 3,487aa) | g.3:125726062T>C,c.1261A>G,p.I421V |
| SLC41A3(NM_017836,solute carrier family 41, member 3,487aa) | g.3:125726016T>C,c.1307A>G,p.Q436R |
| SLC41A2(NM_032148,solute carrier family 41 (magnesium transporter), member 2,573aa) | g.12:105322200C>T,c.106G>A,p.D36N |
| SLC41A2(NM_032148,solute carrier family 41 (magnesium transporter), member 2,573aa) | g.12:105289078T>A,c.709A>T,p.I237L |
| SLC41A1(NM_173854,solute carrier family 41 (magnesium transporter), member 1,513aa) | g.1:205779560T>C,c.10A>G,p.K4E |
| SLC41A1(NM_173854,solute carrier family 41 (magnesium transporter), member 1,513aa) | g.1:205779431C>T,c.139G>A,p.V47I |
| SLC41A1(NM_173854,solute carrier family 41 (magnesium transporter), member 1,513aa) | g.1:205767910C>T,c.731G>A,p.R244H |
| SLC41A1(NM_173854,solute carrier family 41 (magnesium transporter), member 1,513aa) | g.1:205767816C>A,c.825G>T,p.W275C |
| SLC40A1(NM_014585,solute carrier family 40 (iron-regulated transporter), member 1,571aa) | g.2:190430214G>A,c.626C>T,p.S209L |
| SLC40A1(NM_014585,solute carrier family 40 (iron-regulated transporter), member 1,571aa) | g.2:190430188C>T,c.652G>A,p.V218M |
| SLC40A1(NM_014585,solute carrier family 40 (iron-regulated transporter), member 1,571aa) | g.2:190428912C>T,c.800G>A,p.G267D |
| SLC40A1(NM_014585,solute carrier family 40 (iron-regulated transporter), member 1,571aa) | g.2:190428661T>C,c.1051A>G,p.I351V |
| SLC40A1(NM_014585,solute carrier family 40 (iron-regulated transporter), member 1,571aa) | g.2:190428456G>A,c.1256C>T,p.T419I |
| SLC40A1(NM_014585,solute carrier family 40 (iron-regulated transporter), member 1,571aa) | g.2:190426750C>T,c.1570G>A,p.V524I |
| SLC40A1(NM_014585,solute carrier family 40 (iron-regulated transporter), member 1,571aa) | g.2:190426666C>T,c.1654G>A,p.A552T |
| SLC40A1(NM_014585,solute carrier family 40 (iron-regulated transporter), member 1,571aa) | g.2:190426660C>T,c.1660G>A,p.G554S |
| SLC3A2(NM_001012662,solute carrier family 3 (amino acid transporter heavy chain), member 2,631aa) | g.11:62656158C>T,c.1889C>T,p.A630V |
| SLC3A2(NM_001012662,solute carrier family 3 (amino acid transporter heavy chain), member 2,631aa) | g.11:62655822G>A,c.1553G>A,p.G518D |
| SLC3A2(NM_001012662,solute carrier family 3 (amino acid transporter heavy chain), member 2,631aa) | g.11:62652950G>T,c.1319G>T,p.R440M |