| 基因名 | 突变 |
|---|---|
| GNA14(NM_004297,guanine nucleotide binding protein (G protein), alpha 14,355aa) | g.9:80144028G>A,c.266C>T,p.A89V |
| GNA14(NM_004297,guanine nucleotide binding protein (G protein), alpha 14,355aa) | g.9:80046295G>A,c.535C>T,p.R179X |
| GNA14(NM_004297,guanine nucleotide binding protein (G protein), alpha 14,355aa) | g.9:80046273A>G,c.557T>C,p.I186T |
| GNA14(NM_004297,guanine nucleotide binding protein (G protein), alpha 14,355aa) | g.9:80040538C>G,c.817G>C,p.D273H |
| GNA13(NM_006572,guanine nucleotide binding protein (G protein), alpha 13,377aa) | g.17:63049709C>T,c.421G>A,p.V141I |
| GNA13(NM_006572,guanine nucleotide binding protein (G protein), alpha 13,377aa) | g.17:63049685T>C,c.445A>G,p.I149V |
| GNA13(NM_006572,guanine nucleotide binding protein (G protein), alpha 13,377aa) | g.17:63010848C>G,c.661G>C,p.V221L |
| GNA13(NM_006572,guanine nucleotide binding protein (G protein), alpha 13,377aa) | g.17:63010416T>A,c.1093A>T,p.T365S |
| GNA12(NM_007353,guanine nucleotide binding protein (G protein) alpha 12,381aa) | g.7:2771003C>T,c.958G>A,p.D320N |
| GNA11(NM_002067,guanine nucleotide binding protein (G protein), alpha 11 (Gq class),359aa) | g.19:3110203G>A,c.193G>A,p.A65T |
| GMPS(NM_003875,guanine monphosphate synthase,693aa) | g.3:155652820A>G,c.1792A>G,p.I598V |
| GMPS(NM_003875,guanine monphosphate synthase,693aa) | g.3:155649576A>C,c.1583A>C,p.Y528S |
| GMPS(NM_003875,guanine monphosphate synthase,693aa) | g.3:155615783A>G,c.277A>G,p.I93V |
| GMPR(NM_006877,guanosine monophosphate reductase,345aa) | g.6:16295417_16295418insC,c.1038insC,p.346fs |
| GMPR(NM_006877,guanosine monophosphate reductase,345aa) | g.6:16295347_16295348insACTC,c.968_969insACTC,p.323fs |
| GMPR(NM_006877,guanosine monophosphate reductase,345aa) | g.6:16295278A>T,c.899A>T,p.D300V |
| GMPR(NM_006877,guanosine monophosphate reductase,345aa) | g.6:16290776C>T,c.781C>T,p.R261W |
| GMPR(NM_006877,guanosine monophosphate reductase,345aa) | g.6:16290761T>A,c.766T>A,p.F256I |
| GMPR(NM_006877,guanosine monophosphate reductase,345aa) | g.6:16290732C>T,c.737C>T,p.S246L |
| GMPR(NM_006877,guanosine monophosphate reductase,345aa) | g.6:16286061C>A,c.692C>A,p.A231D |
| GMPR(NM_006877,guanosine monophosphate reductase,345aa) | g.6:16286054G>A,c.685G>A,p.A229T |
| GMPR(NM_006877,guanosine monophosphate reductase,345aa) | g.6:16279033G>A,c.566G>A,p.R189H |
| GMPR(NM_006877,guanosine monophosphate reductase,345aa) | g.6:16254925G>C,c.424G>C,p.V142L |
| GMPR2(NM_001002000,guanosine monophosphate reductase 2,348aa) | g.14:24707479G>A,c.725G>A,p.G242D |
| GMPR2(NM_001002000,guanosine monophosphate reductase 2,348aa) | g.14:24702776C>T,c.179C>T,p.T60I |
| GMPPB(NM_013334,GDP-mannose pyrophosphorylase B,387aa) | g.3:49760431G>C,c.376C>G,p.H126D |
| GMPPB(NM_013334,GDP-mannose pyrophosphorylase B,387aa) | g.3:49760039T>C,c.551A>G,p.Q184R |
| GMPPB(NM_013334,GDP-mannose pyrophosphorylase B,387aa) | g.3:49759537T>C,c.812A>G,p.N271S |