基因名 突变
RCN3(NM_020650,reticulocalbin 3, EF-hand calcium binding domain,328aa) g.19:50040307G>A,c.463G>A,p.V155M
RCN2(NM_001271837,reticulocalbin 2, EF-hand calcium binding domain,335aa) g.15:77227960A>G,c.344A>G,p.D115G
RCN1(NM_002901,reticulocalbin 1, EF-hand calcium binding domain,331aa) g.11:32125978A>G,c.956A>G,p.N319S
RCN1(NM_002901,reticulocalbin 1, EF-hand calcium binding domain,331aa) g.11:32125919G>T,c.897G>T,p.K299N
RCN1(NM_002901,reticulocalbin 1, EF-hand calcium binding domain,331aa) g.11:32122121G>A,c.655G>A,p.G219R
RCN1(NM_002901,reticulocalbin 1, EF-hand calcium binding domain,331aa) g.11:32122109A>G,c.643A>G,p.I215V
RCN1(NM_002901,reticulocalbin 1, EF-hand calcium binding domain,331aa) g.11:32119904G>A,c.457G>A,p.A153T
RCN1(NM_002901,reticulocalbin 1, EF-hand calcium binding domain,331aa) g.11:32118781A>G,c.346A>G,p.I116V
RCN1(NM_002901,reticulocalbin 1, EF-hand calcium binding domain,331aa) g.11:32118697G>T,c.262G>T,p.V88F
RCL1(NM_005772,RNA terminal phosphate cyclase-like 1,373aa) g.9:4860267C>T,c.1114C>T,p.L372F
RCL1(NM_005772,RNA terminal phosphate cyclase-like 1,373aa) g.9:4860138C>T,c.985C>T,p.R329W
RCL1(NM_005772,RNA terminal phosphate cyclase-like 1,373aa) g.9:4844659T>G,c.845T>G,p.L282R
RCL1(NM_005772,RNA terminal phosphate cyclase-like 1,373aa) g.9:4841290A>G,c.643A>G,p.I215V
RCL1(NM_005772,RNA terminal phosphate cyclase-like 1,373aa) g.9:4833154G>A,c.385G>A,p.V129I
RCL1(NM_005772,RNA terminal phosphate cyclase-like 1,373aa) g.9:4826961C>G,c.312C>G,p.C104W
RCL1(NM_005772,RNA terminal phosphate cyclase-like 1,373aa) g.9:4826888T>C,c.239T>C,p.L80P
RCE1(NM_005133,RCE1 homolog, prenyl protein protease (S. cerevisiae),329aa) g.11:66610978G>C,c.52G>C,p.E18Q
RCCD1(NM_033544,RCC1 domain containing 1,376aa) g.15:91504956C>T,c.1088C>T,p.P363L
RCCD1(NM_033544,RCC1 domain containing 1,376aa) g.15:91503181T>G,c.731T>G,p.L244R
RCCD1(NM_033544,RCC1 domain containing 1,376aa) g.15:91500905T>C,c.629T>C,p.L210P
RCCD1(NM_033544,RCC1 domain containing 1,376aa) g.15:91500475C>A,c.299C>A,p.A100E
RCCD1(NM_033544,RCC1 domain containing 1,376aa) g.15:91499986G>T,c.22G>T,p.A8S
RCC2(NM_018715,regulator of chromosome condensation 2,522aa) g.1:17764763A>G,c.248T>C,p.V83A
RCC2(NM_018715,regulator of chromosome condensation 2,522aa) g.1:17748785T>C,c.658A>G,p.T220A
RCC2(NM_018715,regulator of chromosome condensation 2,522aa) g.1:17739674C>A,c.1208G>T,p.G403V
RCC1(NM_001048199,regulator of chromosome condensation 1,421aa) g.1:28862780C>T,c.824C>T,p.P275L
RCC1(NM_001048199,regulator of chromosome condensation 1,421aa) g.1:28862470A>G,c.749A>G,p.Y250C
RCBTB2(NM_001268,regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2,551aa) g.13:49089459A>C,c.231T>G,p.C77W
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