| 基因名 | 突变 |
|---|---|
| SLC17A6(NM_020346,solute carrier family 17 (vesicular glutamate transporter), member 6,582aa) | g.11:22397575A>T,c.1222A>T,p.T408S |
| SLC17A6(NM_020346,solute carrier family 17 (vesicular glutamate transporter), member 6,582aa) | g.11:22387218C>A,c.874C>A,p.L292I |
| SLC17A5(NM_012434,solute carrier family 17 (acidic sugar transporter), member 5,495aa) | g.6:74363525C>T,c.85G>A,p.A29T |
| SLC17A5(NM_012434,solute carrier family 17 (acidic sugar transporter), member 5,495aa) | g.6:74351582G>T,c.357C>A,p.Y119X |
| SLC17A5(NM_012434,solute carrier family 17 (acidic sugar transporter), member 5,495aa) | g.6:74351571T>C,c.368A>G,p.Q123R |
| SLC17A5(NM_012434,solute carrier family 17 (acidic sugar transporter), member 5,495aa) | g.6:74331619C>T,c.886G>A,p.V296I |
| SLC17A5(NM_012434,solute carrier family 17 (acidic sugar transporter), member 5,495aa) | g.6:74310100C>T,c.1324G>A,p.V442I |
| SLC17A4(NM_005495,solute carrier family 17, member 4,497aa) | g.6:25779337C>T,c.1415C>T,p.S472L |
| SLC17A4(NM_005495,solute carrier family 17, member 4,497aa) | g.6:25778182C>T,c.1297C>T,p.Q433X |
| SLC17A4(NM_005495,solute carrier family 17, member 4,497aa) | g.6:25776949G>A,c.1114G>A,p.A372T |
| SLC17A4(NM_005495,solute carrier family 17, member 4,497aa) | g.6:25776868A>G,c.1033A>G,p.I345V |
| SLC17A4(NM_005495,solute carrier family 17, member 4,497aa) | g.6:25776845C>T,c.1010C>T,p.P337L |
| SLC17A4(NM_005495,solute carrier family 17, member 4,497aa) | g.6:25773853C>T,c.938C>T,p.A313V |
| SLC17A4(NM_005495,solute carrier family 17, member 4,497aa) | g.6:25773744T>G,c.829T>G,p.C277G |
| SLC17A4(NM_005495,solute carrier family 17, member 4,497aa) | g.6:25773605G>A,c.809G>A,p.C270Y |
| SLC17A4(NM_005495,solute carrier family 17, member 4,497aa) | g.6:25769360G>A,c.239G>A,p.R80Q |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25862466C>T,c.298G>A,p.A100T |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25862139C>T,c.422G>A,p.R141Q |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25851102C>A,c.716G>T,p.G239V |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25851049C>A,c.769G>T,p.V257F |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25850845C>T,c.835G>A,p.G279R |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25850130C>T,c.1174G>A,p.G392S |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25850094A>T,c.1210T>A,p.C404S |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25850091C>T,c.1213G>A,p.G405R |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25849654G>A,c.1310C>T,p.S437L |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25845699C>T,c.1408G>A,p.V470I |
| SLC17A3(NM_001098486,solute carrier family 17 (organic anion transporter), member 3,498aa) | g.6:25845613T>G,c.1494A>C,p.L498F |
| SLC17A2(NM_005835,solute carrier family 17, member 2,436aa) | g.6:25926018C>T,c.7G>A,p.G3R |