基因名 突变
ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) g.6:170160783A>G,c.788A>G,p.K263R
ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) g.6:170156524G>A,c.406G>A,p.A136T
ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) g.6:170155481G>A,c.278G>A,p.R93Q
ERMARD(NM_018341,ER membrane-associated RNA degradation,678aa) g.6:170155477A>G,c.274A>G,p.I92V
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43308650G>A,c.1175G>A,p.R392H
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43308524G>A,c.1049G>A,p.R350H
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43308451A>G,c.976A>G,p.N326D
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43308367T>C,c.892T>C,p.Y298H
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43308310G>A,c.835G>A,p.V279I
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43308263G>A,c.788G>A,p.G263E
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43305712C>T,c.646C>T,p.R216W
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43296780G>A,c.427G>A,p.V143I
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43296765A>G,c.412A>G,p.T138A
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43296595G>A,c.242G>A,p.R81Q
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43296577A>G,c.224A>G,p.Q75R
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43296522G>A,c.169G>A,p.G57R
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43296492G>A,c.139G>A,p.E47K
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43296456G>A,c.103G>A,p.G35S
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43296195C>T,c.76C>T,p.H26Y
ERMAP(NM_001017922,erythroblast membrane-associated protein (Scianna blood group),475aa) g.1:43296130C>T,c.11C>T,p.A4V
ERLIN2(NM_007175,ER lipid raft associated 2,339aa) g.8:37597911G>A,c.136G>A,p.G46S
ERLIN1(NM_006459,ER lipid raft associated 1,348aa) g.10:101912064T>C,c.871A>G,p.I291V
ERLIN1(NM_006459,ER lipid raft associated 1,348aa) g.10:101911920T>C,c.1015A>G,p.N339D
ERLEC1(NM_015701,endoplasmic reticulum lectin 1,483aa) g.2:54040084A>G,c.1102-2A>G,p.368Acceptor
ERLEC1(NM_015701,endoplasmic reticulum lectin 1,483aa) g.2:54036357G>A,c.1048G>A,p.G350S
ERLEC1(NM_015701,endoplasmic reticulum lectin 1,483aa) g.2:54035538A>C,c.982A>C,p.K328Q
ERLEC1(NM_015701,endoplasmic reticulum lectin 1,483aa) g.2:54035508G>C,c.952G>C,p.V318L
ERLEC1(NM_015701,endoplasmic reticulum lectin 1,483aa) g.2:54028956G>A,c.856G>A,p.V286M
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