基因名 突变
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145299787T>G,c.836T>G,p.L279W
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145298186C>G,c.598C>G,p.P200A
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145297661C>A,c.536C>A,p.A179D
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145297627G>A,c.502G>A,p.E168K
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145296478G>T,c.400G>T,p.D134Y
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145296451G>C,c.373G>C,p.E125Q
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145296448T>A,c.370T>A,p.Y124N
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145296424G>T,c.346G>T,p.G116W
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145296373G>T,c.295G>T,p.V99F
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145295521C>T,c.274C>T,p.L92F
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145293566G>A,c.161G>A,p.R54Q
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145293515A>G,c.110A>G,p.N37S
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145293510C>G,c.105C>G,p.F35L
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145293498G>C,c.93G>C,p.K31N
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145293490G>C,c.85G>C,p.A29P
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145293469G>C,c.64G>C,p.E22Q
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145293428G>C,c.23G>C,p.W8S
NBPF10(NM_001039703,neuroblastoma breakpoint family, member 10,3626aa) g.1:145293425C>A,c.20C>A,p.P7H
NBN(NM_002485,nibrin,754aa) g.8:90995016A>C,c.105T>G,p.I35M
NBN(NM_002485,nibrin,754aa) g.8:90993640C>T,c.283G>A,p.D95N
NBN(NM_002485,nibrin,754aa) g.8:90990527G>A,c.505C>T,p.R169C
NBN(NM_002485,nibrin,754aa) g.8:90990521T>C,c.511A>G,p.I171V
NBN(NM_002485,nibrin,754aa) g.8:90990479C>G,c.553G>C,p.E185Q
NBN(NM_002485,nibrin,754aa) g.8:90983460G>A,c.643C>T,p.R215W
NBN(NM_002485,nibrin,754aa) g.8:90982691G>A,c.797C>T,p.P266L
NBN(NM_002485,nibrin,754aa) g.8:90971041C>T,c.1036G>A,p.V346M
NBN(NM_002485,nibrin,754aa) g.8:90970986A>G,c.1091T>C,p.V364A
NBN(NM_002485,nibrin,754aa) g.8:90967721A>G,c.1187T>C,p.L396P
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