基因名 |
突变 |
XIRP1(NM_194293,xin actin-binding repeat containing 1,1843aa) |
g.3:39225448G>A,c.5489C>T,p.T1830M |
XIAP(NM_001167,X-linked inhibitor of apoptosis,497aa) |
g.X:123034511A>C,c.1268A>C,p.Q423P |
XIAP(NM_001167,X-linked inhibitor of apoptosis,497aa) |
g.X:123034343A>G,c.1100A>G,p.D367G |
XIAP(NM_001167,X-linked inhibitor of apoptosis,497aa) |
g.X:123022553C>G,c.962C>G,p.A321G |
XIAP(NM_001167,X-linked inhibitor of apoptosis,497aa) |
g.X:123020281C>G,c.769C>G,p.P257A |
XG(NM_001141919,Xg blood group,195aa) |
g.X:2724760T>C,c.392T>C,p.L131P |
XG(NM_001141919,Xg blood group,195aa) |
g.X:2724760del,c.392del,p.131fs |
XG(NM_001141919,Xg blood group,195aa) |
g.X:2700157G>A,c.178G>A,p.D60N |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31625983C>T,c.128G>A,p.C43Y |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31621475C>T,c.397G>A,p.E133K |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31620583C>T,c.446G>A,p.R149H |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31620547C>T,c.482G>A,p.R161Q |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31611143C>T,c.514G>A,p.G172R |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31610711G>A,c.617C>T,p.P206L |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31606648G>C,c.859C>G,p.L287V |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31604589C>T,c.1042G>A,p.V348I |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31600072G>C,c.1274C>G,p.S425C |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31598325C>T,c.1523G>A,p.R508Q |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31596756C>T,c.1669G>A,p.D557N |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31596748C>A,c.1677G>T,p.Q559H |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31596738C>G,c.1686+1G>C,p.562Donor |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31595154C>T,c.1796G>A,p.R599H |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31595130C>T,c.1820G>A,p.R607Q |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31593316C>T,c.1885G>A,p.V629I |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31593316C>A,c.1885G>T,p.V629F |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31593289C>T,c.1912G>A,p.A638T |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31593265T>C,c.1936A>G,p.I646V |
XDH(NM_000379,xanthine dehydrogenase,1333aa) |
g.2:31593231G>A,c.1970C>T,p.A657V |