基因名 突变
TC2N(NM_152332,tandem C2 domains, nuclear,490aa) g.14:92251540C>T,c.1328G>A,p.R443Q
TC2N(NM_152332,tandem C2 domains, nuclear,490aa) g.14:92249535C>G,c.1382G>C,p.S461T
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139719829C>T,c.1535C>T,p.P512L
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139717608G>A,c.1505G>A,p.R502Q
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139715645C>A,c.1352C>A,p.T451N
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139715641G>A,c.1348G>A,p.E450K
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139715581G>A,c.1288G>A,p.A430T
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139715566C>T,c.1273C>T,p.R425C
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139715531G>A,c.1238G>A,p.R413Q
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139706982G>A,c.1229G>A,p.R410K
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139706955C>T,c.1202C>T,p.T401M
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139706915G>A,c.1162G>A,p.E388K
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139661964C>G,c.1069C>G,p.L357V
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139661778G>A,c.883G>A,p.V295M
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139653196A>C,c.483A>C,p.E161D
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139636076G>A,c.423G>A,p.M141I
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139611038G>T,c.254G>T,p.R85L
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139575408C>T,c.211C>T,p.L71F
TBXAS1(NM_001130966,thromboxane A synthase 1 (platelet),534aa) g.7:139572123G>A,c.182G>A,p.R61H
TBXA2R(NM_001060,thromboxane A2 receptor,343aa) g.19:3599923C>T,c.710G>A,p.R237Q
TBXA2R(NM_001060,thromboxane A2 receptor,343aa) g.19:3599870T>C,c.763A>G,p.S255G
TBXA2R(NM_001060,thromboxane A2 receptor,343aa) g.19:3595923G>A,c.795C>T,p.I265I
TBXA2R(NM_001060,thromboxane A2 receptor,343aa) g.19:3595794A>G,c.924T>C,p.Y308Y
TBX6(NM_004608,T-box 6,436aa) g.16:30100485C>T,c.400G>A,p.E134K
TBX6(NM_004608,T-box 6,436aa) g.16:30100451G>A,c.434C>T,p.P145L
TBX6(NM_004608,T-box 6,436aa) g.16:30100401C>T,c.484G>A,p.G162S
TBX6(NM_004608,T-box 6,436aa) g.16:30100111C>T,c.671G>A,p.R224Q
TBX6(NM_004608,T-box 6,436aa) g.16:30100082C>G,c.700G>C,p.G234R
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org