基因名 突变
GRB10(NM_001001555,growth factor receptor-bound protein 10,536aa) g.7:50742212G>A,c.109C>T,p.P37S
GRB10(NM_001001555,growth factor receptor-bound protein 10,536aa) g.7:50737469G>C,c.280C>G,p.P94A
GRB10(NM_001001555,growth factor receptor-bound protein 10,536aa) g.7:50737467_50737468insG,c.281_282insC,p.94fs
GRASP(NM_181711,GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein,395aa) g.12:52408901A>G,c.1106A>G,p.K369R
GRASP(NM_181711,GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein,395aa) g.12:52408888C>G,c.1093C>G,p.L365V
GRASP(NM_181711,GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein,395aa) g.12:52408879G>A,c.1084G>A,p.G362S
GRASP(NM_181711,GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein,395aa) g.12:52402998C>T,c.271C>T,p.L91F
GRAP(NM_006613,GRB2-related adaptor protein,217aa) g.17:18925337G>A,c.589C>T,p.R197W
GRAP2(NM_004810,GRB2-related adaptor protein 2,330aa) g.22:40366924C>T,c.829C>T,p.R277W
GRAP2(NM_004810,GRB2-related adaptor protein 2,330aa) g.22:40364122G>A,c.536G>A,p.R179Q
GRAP2(NM_004810,GRB2-related adaptor protein 2,330aa) g.22:40364052C>T,c.466C>T,p.R156W
GRAMD4(NM_015124,GRAM domain containing 4,578aa) g.22:47064743C>T,c.1022C>T,p.A341V
GRAMD4(NM_015124,GRAM domain containing 4,578aa) g.22:47057282G>A,c.409G>A,p.E137K
GRAMD3(NM_001146321,GRAM domain containing 3,440aa) g.5:125824532A>C,c.1229A>C,p.N410T
GRAMD3(NM_001146321,GRAM domain containing 3,440aa) g.5:125821441A>G,c.1058A>G,p.H353R
GRAMD3(NM_001146321,GRAM domain containing 3,440aa) g.5:125802027G>A,c.226G>A,p.E76K
GRAMD2(NM_001012642,GRAM domain containing 2,354aa) g.15:72462255C>T,c.67G>A,p.A23T
GRAMD2(NM_001012642,GRAM domain containing 2,354aa) g.15:72462219G>T,c.103C>A,p.P35T
GRAMD2(NM_001012642,GRAM domain containing 2,354aa) g.15:72459404C>A,c.402G>T,p.M134I
GRAMD2(NM_001012642,GRAM domain containing 2,354aa) g.15:72457714G>C,c.581C>G,p.S194X
GRAMD2(NM_001012642,GRAM domain containing 2,354aa) g.15:72455757C>G,c.806G>C,p.G269A
GRAMD2(NM_001012642,GRAM domain containing 2,354aa) g.15:72454690A>G,c.985T>C,p.Y329H
GRAMD1C(NM_017577,GRAM domain containing 1C,662aa) g.3:113659167G>A,c.1883G>A,p.R628Q
GRAMD1C(NM_017577,GRAM domain containing 1C,662aa) g.3:113659100A>G,c.1816A>G,p.M606V
GRAMD1C(NM_017577,GRAM domain containing 1C,662aa) g.3:113656962G>A,c.1663G>A,p.V555I
GRAMD1C(NM_017577,GRAM domain containing 1C,662aa) g.3:113652386G>A,c.1238G>A,p.R413Q
GRAMD1C(NM_017577,GRAM domain containing 1C,662aa) g.3:113634682A>C,c.1087A>C,p.I363L
GRAMD1C(NM_017577,GRAM domain containing 1C,662aa) g.3:113634592C>T,c.997C>T,p.R333C
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