基因名 突变
ESR2(NM_001040275,estrogen receptor 2 (ER beta),495aa) g.14:64723999G>A,c.1036C>T,p.R346C
ESR2(NM_001040275,estrogen receptor 2 (ER beta),495aa) g.14:64716397C>A,c.1092G>T,p.R364S
ESR2(NM_001040275,estrogen receptor 2 (ER beta),495aa) g.14:64701857G>C,c.1237C>G,p.L413V
ESR2(NM_001040275,estrogen receptor 2 (ER beta),495aa) g.14:64701824G>A,c.1270C>T,p.R424W
ESR2(NM_001040275,estrogen receptor 2 (ER beta),495aa) g.14:64701814G>A,c.1280C>T,p.A427V
ESR2(NM_001040275,estrogen receptor 2 (ER beta),495aa) g.14:64694285T>C,c.1454A>G,p.E485G
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152420095G>A,c.1782G>A,p.T594T
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152265522G>C,c.975G>C,p.P325P
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152265445C>T,c.898C>T,p.R300C
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152265443A>G,c.896A>G,p.K299R
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152265352C>T,c.805C>T,p.R269C
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152129484C>A,c.437C>A,p.P146Q
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152129480G>A,c.433G>A,p.G145S
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152129399T>C,c.352T>C,p.S118P
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152129308G>C,c.261G>C,p.A87A
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152129276G>A,c.229G>A,p.G77S
ESR1(NM_001122742,estrogen receptor 1,595aa) g.6:152129063C>T,c.16C>T,p.H6Y
ESPN(NM_031475,espin,854aa) g.1:6520154C>A,c.2513C>A,p.A838E
ESPN(NM_031475,espin,854aa) g.1:6512061G>A,c.2230G>A,p.D744N
ESPN(NM_031475,espin,854aa) g.1:6511900C>T,c.2069C>T,p.S690L
ESPN(NM_031475,espin,854aa) g.1:6511693C>T,c.1946C>T,p.T649M
ESPN(NM_031475,espin,854aa) g.1:6508872C>T,c.1636C>T,p.R546C
ESPN(NM_031475,espin,854aa) g.1:6505817C>T,c.1286C>T,p.T429I
ESPN(NM_031475,espin,854aa) g.1:6504556G>A,c.1006G>A,p.V336M
ESPN(NM_031475,espin,854aa) g.1:6504553C>T,c.1003C>T,p.R335C
ESPN(NM_031475,espin,854aa) g.1:6500839C>T,c.829C>T,p.H277Y
ESPN(NM_031475,espin,854aa) g.1:6500833C>G,c.823C>G,p.P275A
ESPN(NM_031475,espin,854aa) g.1:6500762G>A,c.752G>A,p.G251D
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