| 基因名 | 突变 |
|---|---|
| SLC1A1(NM_004170,solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1,524aa) | g.9:4544624T>A,c.149T>A,p.F50Y |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228566932G>A,c.103C>T,p.L35F |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228564172C>A,c.259G>T,p.G87C |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228564096A>G,c.335T>C,p.F112S |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228564010C>T,c.421G>A,p.G141S |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228563911C>T,c.520G>A,p.V174I |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228563810T>C,c.621A>G,p.I207M |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228563652T>A,c.779A>T,p.D260V |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228563530T>C,c.901A>G,p.I301V |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228560753C>T,c.1024G>A,p.D342N |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228560728A>G,c.1049T>C,p.V350A |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228560713A>G,c.1064T>C,p.V355A |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228560645T>C,c.1132A>G,p.I378V |
| SLC19A3(NM_025243,solute carrier family 19 (thiamine transporter), member 3,496aa) | g.2:228552261A>G,c.1343T>C,p.V448A |
| SLC19A2(NM_006996,solute carrier family 19 (thiamine transporter), member 2,497aa) | g.1:169454826G>C,c.179C>G,p.P60R |
| SLC19A2(NM_006996,solute carrier family 19 (thiamine transporter), member 2,497aa) | g.1:169446881T>C,c.319A>G,p.S107G |
| SLC19A2(NM_006996,solute carrier family 19 (thiamine transporter), member 2,497aa) | g.1:169437392A>G,c.1322T>C,p.I441T |
| SLC19A2(NM_006996,solute carrier family 19 (thiamine transporter), member 2,497aa) | g.1:169435182C>T,c.1399G>A,p.A467T |
| SLC19A1(NM_194255,solute carrier family 19 (folate transporter), member 1,591aa) | g.21:46957794T>C,c.80A>G,p.H27R |
| SLC19A1(NM_194255,solute carrier family 19 (folate transporter), member 1,591aa) | g.21:46957690C>T,c.184G>A,p.E62K |
| SLC19A1(NM_194255,solute carrier family 19 (folate transporter), member 1,591aa) | g.21:46951801G>A,c.451C>T,p.R151C |
| SLC19A1(NM_194255,solute carrier family 19 (folate transporter), member 1,591aa) | g.21:46950811C>A,c.1024G>T,p.V342F |
| SLC19A1(NM_194255,solute carrier family 19 (folate transporter), member 1,591aa) | g.21:46945774A>G,c.1250T>C,p.I417T |
| SLC19A1(NM_194255,solute carrier family 19 (folate transporter), member 1,591aa) | g.21:46935981C>T,c.1367G>A,p.R456Q |
| SLC19A1(NM_194255,solute carrier family 19 (folate transporter), member 1,591aa) | g.21:46935970G>A,c.1378C>T,p.R460W |
| SLC19A1(NM_194255,solute carrier family 19 (folate transporter), member 1,591aa) | g.21:46935942G>A,c.1406C>T,p.A469V |
| SLC18B1(NM_052831,solute carrier family 18, subfamily B, member 1,456aa) | g.6:133119568G>T,c.28C>A,p.P10T |
| SLC18B1(NM_052831,solute carrier family 18, subfamily B, member 1,456aa) | g.6:133119564C>A,c.32G>T,p.R11L |