基因名 |
突变 |
WDR60(NM_018051,WD repeat domain 60,1066aa) |
g.7:158679717C>T,c.941C>T,p.A314V |
WDR60(NM_018051,WD repeat domain 60,1066aa) |
g.7:158672619A>G,c.818A>G,p.Q273R |
WDR60(NM_018051,WD repeat domain 60,1066aa) |
g.7:158672476C>G,c.675C>G,p.N225K |
WDR60(NM_018051,WD repeat domain 60,1066aa) |
g.7:158672379A>G,c.578A>G,p.Q193R |
WDR60(NM_018051,WD repeat domain 60,1066aa) |
g.7:158664253G>A,c.490G>A,p.V164I |
WDR60(NM_018051,WD repeat domain 60,1066aa) |
g.7:158664075_158664077del,c.312_314del,p.104_105del |
WDR60(NM_018051,WD repeat domain 60,1066aa) |
g.7:158663897C>T,c.134C>T,p.S45F |
WDR5(NM_017588,WD repeat domain 5,334aa) |
g.9:137020857A>G,c.784A>G,p.I262V |
WDR5(NM_017588,WD repeat domain 5,334aa) |
g.9:137005032G>T,c.33G>T,p.E11D |
WDR5B(NM_019069,WD repeat domain 5B,330aa) |
g.3:122134254G>A,c.122C>T,p.T41M |
WDR5B(NM_019069,WD repeat domain 5B,330aa) |
g.3:122134035G>T,c.341C>A,p.S114Y |
WDR5B(NM_019069,WD repeat domain 5B,330aa) |
g.3:122134032C>T,c.344G>A,p.G115E |
WDR5B(NM_019069,WD repeat domain 5B,330aa) |
g.3:122133480A>T,c.896T>A,p.V299D |
WDR59(NM_030581,WD repeat domain 59,974aa) |
g.16:74985405C>T,c.277G>A,p.G93S |
WDR59(NM_030581,WD repeat domain 59,974aa) |
g.16:74983666G>T,c.357C>A,p.D119E |
WDR59(NM_030581,WD repeat domain 59,974aa) |
g.16:74982420C>T,c.442G>A,p.V148I |
WDR59(NM_030581,WD repeat domain 59,974aa) |
g.16:74972084G>C,c.615C>G,p.H205Q |
WDR59(NM_030581,WD repeat domain 59,974aa) |
g.16:74957867T>C,c.686A>G,p.N229S |
WDR59(NM_030581,WD repeat domain 59,974aa) |
g.16:74949890G>C,c.1102C>G,p.L368V |
WDR59(NM_030581,WD repeat domain 59,974aa) |
g.16:74943471T>C,c.1570A>G,p.T524A |
WDR59(NM_030581,WD repeat domain 59,974aa) |
g.16:74921593C>A,c.2407G>T,p.G803C |
WDR59(NM_030581,WD repeat domain 59,974aa) |
g.16:74908169G>A,c.2863C>T,p.R955W |
WDR55(NM_017706,WD repeat domain 55,383aa) |
g.5:140049109A>G,c.1022A>G,p.K341R |
WDR55(NM_017706,WD repeat domain 55,383aa) |
g.5:140048707A>G,c.704A>G,p.Y235C |
WDR55(NM_017706,WD repeat domain 55,383aa) |
g.5:140048544C>T,c.629C>T,p.S210F |
WDR55(NM_017706,WD repeat domain 55,383aa) |
g.5:140048267T>C,c.451T>C,p.C151R |
WDR55(NM_017706,WD repeat domain 55,383aa) |
g.5:140047844G>A,c.217G>A,p.E73K |
WDR54(NM_032118,WD repeat domain 54,334aa) |
g.2:74652240T>C,c.674T>C,p.I225T |