| 基因名 | 突变 |
|---|---|
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56526308G>A,c.1088G>A,p.R363H |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56525330A>G,c.784A>G,p.M262V |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56525298T>C,c.752T>C,p.I251T |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56524623C>G,c.481C>G,p.L161V |
| ESYT1(NM_001184796,extended synaptotagmin-like protein 1,1114aa) | g.12:56522188G>A,c.85G>A,p.A29T |
| ESX1(NM_153448,ESX homeobox 1,406aa) | g.X:103495552T>C,c.578A>G,p.K193R |
| ESX1(NM_153448,ESX homeobox 1,406aa) | g.X:103495289G>A,c.841C>T,p.R281C |
| ESX1(NM_153448,ESX homeobox 1,406aa) | g.X:103495262G>A,c.868C>T,p.R290C |
| ESX1(NM_153448,ESX homeobox 1,406aa) | g.X:103495256C>T,c.874G>A,p.A292T |
| ESX1(NM_153448,ESX homeobox 1,406aa) | g.X:103495190T>G,c.940A>C,p.T314P |
| ESX1(NM_153448,ESX homeobox 1,406aa) | g.X:103495171G>C,c.959C>G,p.P320R |
| ESX1(NM_153448,ESX homeobox 1,406aa) | g.X:103495088G>C,c.1042C>G,p.L348V |
| ESRRG(NM_001243509,estrogen-related receptor gamma,435aa) | g.1:216850741G>A,c.80C>T,p.T27M |
| ESRRG(NM_001243509,estrogen-related receptor gamma,435aa) | g.1:216737648C>T,c.706G>A,p.D236N |
| ESRRG(NM_001243509,estrogen-related receptor gamma,435aa) | g.1:216680496C>T,c.1093G>A,p.V365I |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76966357T>C,c.1448T>C,p.L483P |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76966347C>T,c.1438C>T,p.P480S |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76966318C>T,c.1409C>T,p.P470L |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76966275T>C,c.1366T>C,p.F456L |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76964736G>A,c.1237G>A,p.V413I |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76964665C>T,c.1166C>T,p.T389M |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76964655C>T,c.1156C>T,p.P386S |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76964643C>T,c.1144C>T,p.R382C |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76948407G>A,c.563G>A,p.R188Q |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76948406C>T,c.562C>T,p.R188W |
| ESRRB(NM_004452,estrogen-related receptor beta,508aa) | g.14:76905712A>G,c.16A>G,p.R6G |
| ESRRA(NM_004451,estrogen-related receptor alpha,423aa) | g.11:64083331C>T,c.1165C>T,p.R389C |
| ESRRA(NM_004451,estrogen-related receptor alpha,423aa) | g.11:64083328C>T,c.1162C>T,p.L388F |