基因名 |
突变 |
TSPYL2(NM_022117,TSPY-like 2,693aa) |
g.X:53115159G>A,c.1585G>A,p.E529K |
TSPYL2(NM_022117,TSPY-like 2,693aa) |
g.X:53115120G>A,c.1546G>A,p.E516K |
TSPYL2(NM_022117,TSPY-like 2,693aa) |
g.X:53114823G>A,c.1249G>A,p.G417S |
TSPYL2(NM_022117,TSPY-like 2,693aa) |
g.X:53112164C>T,c.484C>T,p.P162S |
TSPYL2(NM_022117,TSPY-like 2,693aa) |
g.X:53112090C>T,c.410C>T,p.S137L |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116600927G>A,c.67C>T,p.Q23X |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116600810G>A,c.184C>T,p.P62S |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116600774C>G,c.220G>C,p.A74P |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116600621C>A,c.373G>T,p.V125F |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116600616C>A,c.378G>T,p.Q126H |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116600466_116600467insACC,c.527_528insGGT,p.176ins1aa |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116600465T>C,c.529A>G,p.K177E |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116600465_116600466insCAC,c.528_529insGTG,p.176_177ins1aa |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116600458C>A,c.536G>T,p.G179V |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116600453C>T,c.541G>A,p.A181T |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116599896G>T,c.1098C>A,p.F366L |
TSPYL1(NM_003309,TSPY-like 1,437aa) |
g.6:116599859T>C,c.1135A>G,p.T379A |
TSPO(NM_001256530,translocator protein (18kDa),169aa) |
g.22:43558972G>A,c.485G>A,p.R162H |
TSPO(NM_001256530,translocator protein (18kDa),169aa) |
g.22:43558926A>G,c.439A>G,p.T147A |
TSPO(NM_001256530,translocator protein (18kDa),169aa) |
g.22:43557085G>C,c.210G>C,p.E70D |
TSPO2(NM_001010873,translocator protein 2,170aa) |
g.6:41011758C>T,c.395C>T,p.A132V |
TSPO2(NM_001010873,translocator protein 2,170aa) |
g.6:41011375G>C,c.253G>C,p.V85L |
TSPO2(NM_001010873,translocator protein 2,170aa) |
g.6:41010518G>A,c.-21+1G>A,p.5'UTRDonor |
TSPEAR(NM_001272037,thrombospondin-type laminin G domain and EAR repeats,601aa) |
g.21:45953767C>T,c.139G>A,p.D47N |
TSPEAR(NM_001272037,thrombospondin-type laminin G domain and EAR repeats,601aa) |
g.21:45953710G>A,c.196C>T,p.R66C |
TSPEAR(NM_001272037,thrombospondin-type laminin G domain and EAR repeats,601aa) |
g.21:45953695C>T,c.211G>A,p.G71S |
TSPEAR(NM_001272037,thrombospondin-type laminin G domain and EAR repeats,601aa) |
g.21:45953608C>T,c.298G>A,p.V100I |
TSPEAR(NM_001272037,thrombospondin-type laminin G domain and EAR repeats,601aa) |
g.21:45950952G>A,c.403C>T,p.R135W |