Genename |
Variants |
ADAMTS13(NM_139025,ADAM metallopeptidase with thrombospondin type 1 motif, 13,1427aa) |
g.9:136297737C>G,c.1016C>G,p.T339R |
ADAMTS13(NM_139025,ADAM metallopeptidase with thrombospondin type 1 motif, 13,1427aa) |
g.9:136291362G>A,c.583G>A,p.V195I |
ADAMTS13(NM_139025,ADAM metallopeptidase with thrombospondin type 1 motif, 13,1427aa) |
g.9:136291103G>A,c.460G>A,p.V154I |
ADAMTS13(NM_139025,ADAM metallopeptidase with thrombospondin type 1 motif, 13,1427aa) |
g.9:136290672G>A,c.354G>A,p.P118P |
ADAMTS13(NM_139025,ADAM metallopeptidase with thrombospondin type 1 motif, 13,1427aa) |
g.9:136289599G>A,c.330+1G>A,p.110Donor |
ADAMTS13(NM_139025,ADAM metallopeptidase with thrombospondin type 1 motif, 13,1427aa) |
g.9:136289443C>T,c.175C>T,p.R59C |
ADAMTS13(NM_139025,ADAM metallopeptidase with thrombospondin type 1 motif, 13,1427aa) |
g.9:136287582C>T,c.19C>T,p.R7W |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33891937G>A,c.25C>T,p.L9F |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33891894G>A,c.68C>T,p.A23V |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33891849G>T,c.113C>A,p.P38Q |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33881252G>A,c.461C>T,p.T154M |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33751626C>G,c.517G>C,p.D173H |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33751608C>T,c.535G>A,p.V179M |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33658404C>T,c.1075G>A,p.E359K |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33658326G>A,c.1153C>T,p.P385S |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33643559A>T,c.1496T>A,p.L499Q |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33637760G>A,c.1810C>T,p.R604W |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33614379C>T,c.2491G>A,p.G831S |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33596127G>A,c.2566C>T,p.R856C |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33577096T>C,c.3035A>G,p.N1012S |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33577067C>T,c.3064G>A,p.V1022I |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33576629C>G,c.3502G>C,p.D1168H |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33576602A>G,c.3529T>C,p.W1177R |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33576443C>T,c.3688G>A,p.E1230K |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33549435G>C,c.4179C>G,p.D1393E |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33549422G>A,c.4192C>T,p.R1398W |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33549421C>T,c.4193G>A,p.R1398Q |
ADAMTS12(NM_030955,ADAM metallopeptidase with thrombospondin type 1 motif, 12,1594aa) |
g.5:33549383T>C,c.4231A>G,p.I1411V |