| 基因名 | 突变 |
|---|---|
| GRIN3A(NM_133445,glutamate receptor, ionotropic, N-methyl-D-aspartate 3A,1115aa) | g.9:104335719A>G,c.3085T>C,p.F1029L |
| GRIN3A(NM_133445,glutamate receptor, ionotropic, N-methyl-D-aspartate 3A,1115aa) | g.9:104335682C>T,c.3122G>A,p.R1041Q |
| GRIN3A(NM_133445,glutamate receptor, ionotropic, N-methyl-D-aspartate 3A,1115aa) | g.9:104335661_104335662insG,c.3142_3143insC,p.1048fs |
| GRIN3A(NM_133445,glutamate receptor, ionotropic, N-methyl-D-aspartate 3A,1115aa) | g.9:104335619T>C,c.3185A>G,p.N1062S |
| GRIN3A(NM_133445,glutamate receptor, ionotropic, N-methyl-D-aspartate 3A,1115aa) | g.9:104335586T>A,c.3218A>T,p.N1073I |
| GRIN3A(NM_133445,glutamate receptor, ionotropic, N-methyl-D-aspartate 3A,1115aa) | g.9:104335536G>A,c.3268C>T,p.R1090C |
| GRIN2D(NM_000836,glutamate receptor, ionotropic, N-methyl D-aspartate 2D,1336aa) | g.19:48947132G>A,c.3949G>A,p.G1317S |
| GRIN2D(NM_000836,glutamate receptor, ionotropic, N-methyl D-aspartate 2D,1336aa) | g.19:48908522G>A,c.997G>A,p.A333T |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72851210C>T,c.22G>A,p.A8T |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72851140G>A,c.92C>T,p.T31M |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72851086C>T,c.146G>A,p.R49H |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72851075G>C,c.157C>G,p.Q53E |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72851041G>A,c.191C>T,p.P64L |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72851039G>A,c.193C>T,p.L65F |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72848552T>A,c.598A>T,p.T200S |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72848365G>A,c.785C>T,p.T262I |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72846819G>A,c.1201C>T,p.R401W |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72846500C>T,c.1336G>A,p.V446M |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72846368C>T,c.1468G>A,p.V490I |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72845955G>A,c.1609C>T,p.R537C |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72843052C>T,c.2009G>A,p.R670Q |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72842993G>A,c.2068C>T,p.R690W |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72840546C>T,c.2452G>A,p.V818I |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72839130_72839131insGCTCCGGGG,c.3145_3146insCCCCGGAGC,p.1049ins3aa |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72838813C>T,c.3463G>A,p.A1155T |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72838738C>G,c.3538G>C,p.G1180R |
| GRIN2C(NM_000835,glutamate receptor, ionotropic, N-methyl D-aspartate 2C,1233aa) | g.17:72838649C>A,c.3627G>T,p.R1209S |
| GRIN2B(NM_000834,glutamate receptor, ionotropic, N-methyl D-aspartate 2B,1484aa) | g.12:14019091C>T,c.52G>A,p.V18I |