| 基因名 | 突变 |
|---|---|
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7751859_7751864del,c.2253_2258del,p.751_753del |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7751815C>T,c.2209C>T,p.P737S |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7751576C>T,c.1970C>T,p.P657L |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7751531C>T,c.1925C>T,p.P642L |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7751491C>T,c.1885C>T,p.R629W |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7751477G>A,c.1871G>A,p.R624H |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7751431G>A,c.1825G>A,p.A609T |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7751266A>G,c.1660A>G,p.S554G |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7751138C>A,c.1532C>A,p.P511H |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7751050C>T,c.1444C>T,p.P482S |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7750936A>G,c.1330A>G,p.S444G |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7750903T>C,c.1297T>C,p.S433P |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7750745G>A,c.1232G>A,p.R411Q |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7750516C>G,c.1003C>G,p.P335A |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7750436C>T,c.923C>T,p.S308L |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7750430G>A,c.917G>A,p.R306Q |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7750177_7750178insACCACC,c.752_753insACCACC,p.251ins2aa |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7750010G>C,c.663G>C,p.E221D |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7749972G>T,c.625G>T,p.V209L |
| KDM6B(NM_001080424,lysine (K)-specific demethylase 6B,1682aa) | g.17:7749954C>G,c.607C>G,p.P203A |
| KDM6A(NM_021140,lysine (K)-specific demethylase 6A,1401aa) | g.X:44950030A>G,c.3799A>G,p.I1267V |
| KDM6A(NM_021140,lysine (K)-specific demethylase 6A,1401aa) | g.X:44929077C>A,c.2177C>A,p.T726K |
| KDM6A(NM_021140,lysine (K)-specific demethylase 6A,1401aa) | g.X:44928980G>A,c.2080G>A,p.A694T |
| KDM5D(NM_001146705,lysine (K)-specific demethylase 5D,1570aa) | g.Y:21906413G>A,c.8C>T,p.P3L |
| KDM5D(NM_001146705,lysine (K)-specific demethylase 5D,1570aa) | g.Y:21897363T>A,c.808A>T,p.T270S |
| KDM5D(NM_001146705,lysine (K)-specific demethylase 5D,1570aa) | g.Y:21869923C>T,c.3389G>A,p.S1130N |
| KDM5C(NM_004187,lysine (K)-specific demethylase 5C,1560aa) | g.X:53227681T>C,c.2507A>G,p.Q836R |
| KDM5C(NM_004187,lysine (K)-specific demethylase 5C,1560aa) | g.X:53223419G>A,c.3940C>T,p.R1314W |