| 基因名 | 突变 |
|---|---|
| GPHN(NM_020806,gephyrin,769aa) | g.14:67147887G>T,c.127G>T,p.V43L |
| GPHN(NM_020806,gephyrin,769aa) | g.14:66975273A>T,c.28A>T,p.N10Y |
| GPHN(NM_020806,gephyrin,769aa) | g.14:66975271C>G,c.26C>G,p.T9S |
| GPHA2(NM_130769,glycoprotein hormone alpha 2,129aa) | g.11:64702860C>T,c.73G>A,p.E25K |
| GPHA2(NM_130769,glycoprotein hormone alpha 2,129aa) | g.11:64702830G>A,c.103C>T,p.P35S |
| GPHA2(NM_130769,glycoprotein hormone alpha 2,129aa) | g.11:64702594C>T,c.157G>A,p.V53M |
| GPHA2(NM_130769,glycoprotein hormone alpha 2,129aa) | g.11:64702316G>A,c.319C>T,p.R107W |
| GPER1(NM_001039966,G protein-coupled estrogen receptor 1,375aa) | g.7:1132483T>G,c.1119T>G,p.S373R |
| GPER1(NM_001039966,G protein-coupled estrogen receptor 1,375aa) | g.7:1132413G>A,c.1049G>A,p.R350H |
| GPER1(NM_001039966,G protein-coupled estrogen receptor 1,375aa) | g.7:1132328C>T,c.964C>T,p.L322F |
| GPER1(NM_001039966,G protein-coupled estrogen receptor 1,375aa) | g.7:1132260G>A,c.896G>A,p.R299H |
| GPER1(NM_001039966,G protein-coupled estrogen receptor 1,375aa) | g.7:1132193G>A,c.829G>A,p.V277I |
| GPER1(NM_001039966,G protein-coupled estrogen receptor 1,375aa) | g.7:1132107G>A,c.743G>A,p.R248H |
| GPER1(NM_001039966,G protein-coupled estrogen receptor 1,375aa) | g.7:1132095C>T,c.731C>T,p.A244V |
| GPER1(NM_001039966,G protein-coupled estrogen receptor 1,375aa) | g.7:1131411C>T,c.47C>T,p.P16L |
| GPER1(NM_001039966,G protein-coupled estrogen receptor 1,375aa) | g.7:1131378C>T,c.14C>T,p.S5F |
| GPD2(NM_001083112,glycerol-3-phosphate dehydrogenase 2 (mitochondrial),727aa) | g.2:157427743C>T,c.1706C>T,p.A569V |
| GPD2(NM_001083112,glycerol-3-phosphate dehydrogenase 2 (mitochondrial),727aa) | g.2:157427707G>A,c.1670G>A,p.R557H |
| GPD2(NM_001083112,glycerol-3-phosphate dehydrogenase 2 (mitochondrial),727aa) | g.2:157426696G>A,c.1574G>A,p.R525H |
| GPD2(NM_001083112,glycerol-3-phosphate dehydrogenase 2 (mitochondrial),727aa) | g.2:157425931A>C,c.1357A>C,p.K453Q |
| GPD2(NM_001083112,glycerol-3-phosphate dehydrogenase 2 (mitochondrial),727aa) | g.2:157414068G>A,c.1139G>A,p.R380H |
| GPD2(NM_001083112,glycerol-3-phosphate dehydrogenase 2 (mitochondrial),727aa) | g.2:157414025A>G,c.1096A>G,p.I366V |
| GPD2(NM_001083112,glycerol-3-phosphate dehydrogenase 2 (mitochondrial),727aa) | g.2:157406249G>A,c.791G>A,p.R264H |
| GPD2(NM_001083112,glycerol-3-phosphate dehydrogenase 2 (mitochondrial),727aa) | g.2:157369961C>T,c.614C>T,p.P205L |
| GPD2(NM_001083112,glycerol-3-phosphate dehydrogenase 2 (mitochondrial),727aa) | g.2:157352676A>G,c.223A>G,p.I75V |
| GPD1(NM_005276,glycerol-3-phosphate dehydrogenase 1 (soluble),349aa) | g.12:50501871G>A,c.911G>A,p.R304Q |
| GPD1(NM_005276,glycerol-3-phosphate dehydrogenase 1 (soluble),349aa) | g.12:50501810A>G,c.850A>G,p.I284V |
| GPD1(NM_005276,glycerol-3-phosphate dehydrogenase 1 (soluble),349aa) | g.12:50501543G>A,c.806G>A,p.R269Q |