| 基因名 | 突变 |
|---|---|
| GBP1(NM_002053,guanylate binding protein 1, interferon-inducible,592aa) | g.1:89519071T>A,c.1746A>T,p.K582N |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136037790G>A,c.10C>T,p.R4W |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136037753G>A,c.47C>T,p.A16V |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136037742G>A,c.58C>T,p.L20F |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136031315T>C,c.197A>G,p.Y66C |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136029645G>T,c.363C>A,p.Y121X |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136029611C>T,c.397G>A,p.E133K |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136029586C>T,c.422G>A,p.R141Q |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136029520C>T,c.488G>A,p.R163Q |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136029494C>A,c.514G>T,p.G172C |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136029373C>T,c.635G>A,p.R212Q |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136029301C>T,c.707G>A,p.R236H |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136029280C>T,c.728G>A,p.R243H |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136029274C>T,c.734G>A,p.R245H |
| GBGT1(NM_021996,globoside alpha-1,3-N-acetylgalactosaminyltransferase 1,347aa) | g.9:136029007C>T,c.1001G>A,p.R334H |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104142056G>A,c.5543G>A,p.R1848H |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104140977C>T,c.5264C>T,p.P1755L |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104140350G>A,c.5077G>A,p.G1693S |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104136853G>A,c.4447G>A,p.V1483M |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104136425G>A,c.4153G>A,p.D1385N |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104136332G>A,c.4060G>A,p.V1354I |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104135315C>T,c.3857C>T,p.T1286I |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104129716A>G,c.3311A>G,p.K1104R |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104129130A>G,c.3133A>G,p.K1045E |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104127254A>C,c.2576A>C,p.K859T |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104126256G>A,c.2423G>A,p.R808H |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104125332T>C,c.2282T>C,p.I761T |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104123072C>T,c.1933C>T,p.H645Y |