| 基因名 | 突变 |
|---|---|
| NR1I3(NM_001077482,nuclear receptor subfamily 1, group I, member 3,357aa) | g.1:161202999C>T,c.368G>A,p.R123H |
| NR1I3(NM_001077482,nuclear receptor subfamily 1, group I, member 3,357aa) | g.1:161202642A>G,c.503T>C,p.M168T |
| NR1I3(NM_001077482,nuclear receptor subfamily 1, group I, member 3,357aa) | g.1:161201121C>T,c.692G>A,p.R231H |
| NR1I3(NM_001077482,nuclear receptor subfamily 1, group I, member 3,357aa) | g.1:161200610G>A,c.937C>T,p.R313W |
| NR1I2(NM_003889,nuclear receptor subfamily 1, group I, member 2,434aa) | g.3:119536042G>A,c.1288G>A,p.G430S |
| NR1I2(NM_003889,nuclear receptor subfamily 1, group I, member 2,434aa) | g.3:119535949G>A,c.1195G>A,p.E399K |
| NR1I2(NM_003889,nuclear receptor subfamily 1, group I, member 2,434aa) | g.3:119533864G>A,c.833G>A,p.G278E |
| NR1I2(NM_003889,nuclear receptor subfamily 1, group I, member 2,434aa) | g.3:119526203G>A,c.106G>A,p.G36R |
| NR1I2(NM_003889,nuclear receptor subfamily 1, group I, member 2,434aa) | g.3:119526176C>T,c.79C>T,p.P27S |
| NR1H4(NM_001206977,nuclear receptor subfamily 1, group H, member 4,476aa) | g.12:100928727G>T,c.658G>T,p.A220S |
| NR1H4(NM_001206977,nuclear receptor subfamily 1, group H, member 4,476aa) | g.12:100926308T>C,c.518T>C,p.M173T |
| NR1H3(NM_005693,nuclear receptor subfamily 1, group H, member 3,447aa) | g.11:47290222C>G,c.1319C>G,p.S440C |
| NR1H3(NM_005693,nuclear receptor subfamily 1, group H, member 3,447aa) | g.11:47290159G>A,c.1256G>A,p.S419N |
| NR1H3(NM_005693,nuclear receptor subfamily 1, group H, member 3,447aa) | g.11:47289906T>A,c.1197T>A,p.H399Q |
| NR1H3(NM_005693,nuclear receptor subfamily 1, group H, member 3,447aa) | g.11:47282915C>T,c.623C>T,p.P208L |
| NR1H3(NM_005693,nuclear receptor subfamily 1, group H, member 3,447aa) | g.11:47282116C>T,c.389C>T,p.A130V |
| NR1H3(NM_005693,nuclear receptor subfamily 1, group H, member 3,447aa) | g.11:47282024C>T,c.297C>T,p.S99S |
| NR1H2(NM_007121,nuclear receptor subfamily 1, group H, member 2,460aa) | g.19:50881832G>C,c.526G>C,p.E176Q |
| NR1H2(NM_007121,nuclear receptor subfamily 1, group H, member 2,460aa) | g.19:50881822_50881823insCAG,c.516_517insCAG,p.172_173ins1aa |
| NR1H2(NM_007121,nuclear receptor subfamily 1, group H, member 2,460aa) | g.19:50881821_50881822insACA,c.515_516insACA,p.172ins1aa |
| NR1H2(NM_007121,nuclear receptor subfamily 1, group H, member 2,460aa) | g.19:50881820A>C,c.514A>C,p.K172Q |
| NR1H2(NM_007121,nuclear receptor subfamily 1, group H, member 2,460aa) | g.19:50881820_50881821insAAC,c.514_515insAAC,p.172ins1aa |
| NR1H2(NM_007121,nuclear receptor subfamily 1, group H, member 2,460aa) | g.19:50881460C>T,c.236C>T,p.P79L |
| NR1H2(NM_007121,nuclear receptor subfamily 1, group H, member 2,460aa) | g.19:50881010G>A,c.64G>A,p.G22S |
| NR1D2(NM_005126,nuclear receptor subfamily 1, group D, member 2,579aa) | g.3:24009322G>A,c.1351G>A,p.A451T |
| NR1D2(NM_005126,nuclear receptor subfamily 1, group D, member 2,579aa) | g.3:24006477T>A,c.1156T>A,p.L386M |
| NR1D2(NM_005126,nuclear receptor subfamily 1, group D, member 2,579aa) | g.3:24003646A>C,c.696A>C,p.Q232H |
| NR1D2(NM_005126,nuclear receptor subfamily 1, group D, member 2,579aa) | g.3:24001231A>G,c.442A>G,p.I148V |