| 基因名 | 突变 |
|---|---|
| SLC1A5(NM_005628,solute carrier family 1 (neutral amino acid transporter), member 5,541aa) | g.19:47285802G>C,c.662C>G,p.P221R |
| SLC1A5(NM_005628,solute carrier family 1 (neutral amino acid transporter), member 5,541aa) | g.19:47285707C>T,c.757G>A,p.E253K |
| SLC1A5(NM_005628,solute carrier family 1 (neutral amino acid transporter), member 5,541aa) | g.19:47285694C>T,c.770G>A,p.R257H |
| SLC1A5(NM_005628,solute carrier family 1 (neutral amino acid transporter), member 5,541aa) | g.19:47280263T>G,c.1357A>C,p.I453L |
| SLC1A5(NM_005628,solute carrier family 1 (neutral amino acid transporter), member 5,541aa) | g.19:47278915C>A,c.1478G>T,p.S493I |
| SLC1A5(NM_005628,solute carrier family 1 (neutral amino acid transporter), member 5,541aa) | g.19:47278859C>G,c.1534G>C,p.V512L |
| SLC1A4(NM_003038,solute carrier family 1 (glutamate/neutral amino acid transporter), member 4,532aa) | g.2:65245365G>A,c.1195G>A,p.V399I |
| SLC1A4(NM_003038,solute carrier family 1 (glutamate/neutral amino acid transporter), member 4,532aa) | g.2:65245348T>C,c.1178T>C,p.I393T |
| SLC1A4(NM_003038,solute carrier family 1 (glutamate/neutral amino acid transporter), member 4,532aa) | g.2:65237843G>A,c.746G>A,p.R249H |
| SLC1A4(NM_003038,solute carrier family 1 (glutamate/neutral amino acid transporter), member 4,532aa) | g.2:65216998A>G,c.221A>G,p.Y74C |
| SLC1A4(NM_003038,solute carrier family 1 (glutamate/neutral amino acid transporter), member 4,532aa) | g.2:65216886G>C,c.109G>C,p.G37R |
| SLC1A4(NM_003038,solute carrier family 1 (glutamate/neutral amino acid transporter), member 4,532aa) | g.2:65216842C>T,c.65C>T,p.P22L |
| SLC1A4(NM_003038,solute carrier family 1 (glutamate/neutral amino acid transporter), member 4,532aa) | g.2:65216817G>A,c.40G>A,p.A14T |
| SLC1A3(NM_004172,solute carrier family 1 (glial high affinity glutamate transporter), member 3,542aa) | g.5:36679853G>A,c.985G>A,p.A329T |
| SLC1A3(NM_004172,solute carrier family 1 (glial high affinity glutamate transporter), member 3,542aa) | g.5:36679820A>G,c.952A>G,p.T318A |
| SLC1A3(NM_004172,solute carrier family 1 (glial high affinity glutamate transporter), member 3,542aa) | g.5:36679739G>A,c.871G>A,p.V291M |
| SLC1A3(NM_004172,solute carrier family 1 (glial high affinity glutamate transporter), member 3,542aa) | g.5:36677103G>A,c.677G>A,p.R226Q |
| SLC1A3(NM_004172,solute carrier family 1 (glial high affinity glutamate transporter), member 3,542aa) | g.5:36677083G>C,c.657G>C,p.E219D |
| SLC1A2(NM_004171,solute carrier family 1 (glial high affinity glutamate transporter), member 2,574aa) | g.11:35440498C>T,c.16G>A,p.G6S |
| SLC1A2(NM_004171,solute carrier family 1 (glial high affinity glutamate transporter), member 2,574aa) | g.11:35336644G>C,c.236C>G,p.A79G |
| SLC1A2(NM_004171,solute carrier family 1 (glial high affinity glutamate transporter), member 2,574aa) | g.11:35327771T>C,c.580A>G,p.K194E |
| SLC1A2(NM_004171,solute carrier family 1 (glial high affinity glutamate transporter), member 2,574aa) | g.11:35323146C>T,c.777G>A,p.M259I |
| SLC1A2(NM_004171,solute carrier family 1 (glial high affinity glutamate transporter), member 2,574aa) | g.11:35302526C>T,c.1309G>A,p.V437I |
| SLC1A2(NM_004171,solute carrier family 1 (glial high affinity glutamate transporter), member 2,574aa) | g.11:35287244G>A,c.1483C>T,p.H495Y |
| SLC1A2(NM_004171,solute carrier family 1 (glial high affinity glutamate transporter), member 2,574aa) | g.11:35282496T>C,c.1670A>G,p.N557S |
| SLC1A1(NM_004170,solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1,524aa) | g.9:4583075G>A,c.1231G>A,p.V411M |
| SLC1A1(NM_004170,solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1,524aa) | g.9:4576642G>A,c.1072G>A,p.V358M |
| SLC1A1(NM_004170,solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1,524aa) | g.9:4576045T>C,c.920T>C,p.I307T |