基因名 |
突变 |
WDR90(NM_145294,WD repeat domain 90,1748aa) |
g.16:703640G>A,c.1349G>A,p.R450Q |
WDR90(NM_145294,WD repeat domain 90,1748aa) |
g.16:703387C>T,c.1169C>T,p.A390V |
WDR90(NM_145294,WD repeat domain 90,1748aa) |
g.16:701731C>T,c.824C>T,p.T275M |
WDR90(NM_145294,WD repeat domain 90,1748aa) |
g.16:701656C>T,c.749C>T,p.P250L |
WDR90(NM_145294,WD repeat domain 90,1748aa) |
g.16:701217G>T,c.687G>T,p.L229F |
WDR90(NM_145294,WD repeat domain 90,1748aa) |
g.16:701102C>T,c.667C>T,p.R223W |
WDR90(NM_145294,WD repeat domain 90,1748aa) |
g.16:700644G>C,c.494G>C,p.S165T |
WDR90(NM_145294,WD repeat domain 90,1748aa) |
g.16:700622C>T,c.472C>T,p.R158W |
WDR89(NM_001258272,WD repeat domain 89,387aa) |
g.14:64066431C>T,c.230G>A,p.R77K |
WDR89(NM_001258272,WD repeat domain 89,387aa) |
g.14:64065769C>G,c.892G>C,p.G298R |
WDR89(NM_001258272,WD repeat domain 89,387aa) |
g.14:64065687C>T,c.974G>A,p.R325H |
WDR88(NM_173479,WD repeat domain 88,472aa) |
g.19:33666378G>C,c.1319G>C,p.C440S |
WDR88(NM_173479,WD repeat domain 88,472aa) |
g.19:33666345C>A,c.1286C>A,p.T429N |
WDR88(NM_173479,WD repeat domain 88,472aa) |
g.19:33651386G>A,c.1064G>A,p.R355Q |
WDR88(NM_173479,WD repeat domain 88,472aa) |
g.19:33651385C>T,c.1063C>T,p.R355W |
WDR88(NM_173479,WD repeat domain 88,472aa) |
g.19:33647379T>C,c.928T>C,p.C310R |
WDR88(NM_173479,WD repeat domain 88,472aa) |
g.19:33638586C>G,c.512C>G,p.A171G |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38385897C>T,c.329G>A,p.R110H |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38385614_38385616del,c.610_612del,p.204del |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38385577G>A,c.649C>T,p.L217F |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38385474C>T,c.752G>A,p.R251H |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38385387C>T,c.839G>A,p.R280Q |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38385207C>T,c.1019G>A,p.R340Q |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38385079C>T,c.1147G>A,p.E383K |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38384856C>T,c.1370G>A,p.R457Q |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38384838T>A,c.1388A>T,p.H463L |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38384689C>T,c.1537G>A,p.A513T |
WDR87(NM_031951,WD repeat domain 87,2873aa) |
g.19:38384574G>C,c.1652C>G,p.S551C |