Genename Variants
F13A1(NM_000129,coagulation factor XIII, A1 polypeptide,732aa) g.6:6152140C>T,c.1951G>A,p.V651I
F13A1(NM_000129,coagulation factor XIII, A1 polypeptide,732aa) g.6:6152137C>G,c.1954G>C,p.E652Q
F13A1(NM_000129,coagulation factor XIII, A1 polypeptide,732aa) g.6:6145997C>T,c.2054G>A,p.R685Q
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176836473G>A,c.56C>T,p.S19L
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176832982G>A,c.196C>T,p.R66W
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176832166G>C,c.418C>G,p.L140V
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176831826C>G,c.619G>C,p.A207P
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176831558G>A,c.742C>T,p.R248W
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176831085G>T,c.1025C>A,p.P342Q
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176831085G>A,c.1025C>T,p.P342L
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176831083C>G,c.1027G>C,p.A343P
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176830348G>A,c.1438C>T,p.P480S
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176830269del,c.1517del,p.506fs
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176829670C>T,c.1561G>A,p.E521K
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176829661C>A,c.1570G>T,p.V524L
F12(NM_000505,coagulation factor XII (Hageman factor),615aa) g.5:176829328A>G,c.1813T>C,p.Y605H
F11R(NM_016946,F11 receptor,299aa) g.1:160970508G>A,c.301C>T,p.R101W
F11R(NM_016946,F11 receptor,299aa) g.1:160970427C>T,c.382G>A,p.V128M
F11R(NM_016946,F11 receptor,299aa) g.1:160969444C>T,c.788G>A,p.R263Q
F11(NM_000128,coagulation factor XI,625aa) g.4:187209733G>A,c.1843G>A,p.V615M
F11(NM_000128,coagulation factor XI,625aa) g.4:187208888G>A,c.1627G>A,p.E543K
F11(NM_000128,coagulation factor XI,625aa) g.4:187207644G>A,c.1556G>A,p.W519X
F11(NM_000128,coagulation factor XI,625aa) g.4:187207634G>A,c.1546G>A,p.V516M
F11(NM_000128,coagulation factor XI,625aa) g.4:187205392A>C,c.1282A>C,p.T428P
F11(NM_000128,coagulation factor XI,625aa) g.4:187201219A>T,c.809A>T,p.K270I
F11(NM_000128,coagulation factor XI,625aa) g.4:187196994A>G,c.539A>G,p.K180R
F11(NM_000128,coagulation factor XI,625aa) g.4:187195378A>G,c.434A>G,p.H145R
F10(NM_000504,coagulation factor X,488aa) g.13:113798236G>A,c.574G>A,p.G192R
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org