基因名 突变
C9orf171(NM_207417,chromosome 9 open reading frame 171,320aa) g.9:135374888G>A,c.533G>A,p.R178H
C9orf171(NM_207417,chromosome 9 open reading frame 171,320aa) g.9:135374854G>C,c.499G>C,p.G167R
C9orf171(NM_207417,chromosome 9 open reading frame 171,320aa) g.9:135374839G>A,c.484G>A,p.G162R
C9orf171(NM_207417,chromosome 9 open reading frame 171,320aa) g.9:135374764G>A,c.409G>A,p.G137R
C9orf171(NM_207417,chromosome 9 open reading frame 171,320aa) g.9:135374091G>A,c.313G>A,p.G105S
C9orf171(NM_207417,chromosome 9 open reading frame 171,320aa) g.9:135285840C>T,c.182C>T,p.P61L
C9orf170(NM_001001709,chromosome 9 open reading frame 170,121aa) g.9:89771588A>G,c.269A>G,p.K90R
C9orf170(NM_001001709,chromosome 9 open reading frame 170,121aa) g.9:89771581G>C,c.262G>C,p.D88H
C9orf170(NM_001001709,chromosome 9 open reading frame 170,121aa) g.9:89771569G>A,c.250G>A,p.V84I
C9orf169(NM_199001,chromosome 9 open reading frame 169,144aa) g.9:140120438C>A,c.365C>A,p.P122H
C9orf169(NM_199001,chromosome 9 open reading frame 169,144aa) g.9:140120396C>T,c.323C>T,p.A108V
C9orf169(NM_199001,chromosome 9 open reading frame 169,144aa) g.9:140120188T>A,c.115T>A,p.S39T
C9orf169(NM_199001,chromosome 9 open reading frame 169,144aa) g.9:140120111C>T,c.38C>T,p.A13V
C9orf163(NM_152571,chromosome 9 open reading frame 163,203aa) g.9:139379174G>A,c.274G>A,p.V92M
C9orf163(NM_152571,chromosome 9 open reading frame 163,203aa) g.9:139378914T>C,c.14T>C,p.L5P
C9orf156(NM_016481,chromosome 9 open reading frame 156,441aa) g.9:100684757A>G,c.19T>C,p.S7P
C9orf156(NM_016481,chromosome 9 open reading frame 156,441aa) g.9:100678527C>T,c.170G>A,p.R57Q
C9orf156(NM_016481,chromosome 9 open reading frame 156,441aa) g.9:100675724T>C,c.368A>G,p.N123S
C9orf156(NM_016481,chromosome 9 open reading frame 156,441aa) g.9:100672512C>T,c.796G>A,p.V266M
C9orf156(NM_016481,chromosome 9 open reading frame 156,441aa) g.9:100672338C>T,c.970G>A,p.V324M
C9orf153(NM_001276367,chromosome 9 open reading frame 153,95aa) g.9:88842804C>T,c.208G>A,p.A70T
C9orf152(NM_001012993,chromosome 9 open reading frame 152,239aa) g.9:112969745del,c.115del,p.39fs
C9orf152(NM_001012993,chromosome 9 open reading frame 152,239aa) g.9:112969733G>A,c.127C>T,p.R43X
C9orf152(NM_001012993,chromosome 9 open reading frame 152,239aa) g.9:112963497G>A,c.451C>T,p.L151F
C9orf152(NM_001012993,chromosome 9 open reading frame 152,239aa) g.9:112963307G>T,c.641C>A,p.A214D
C9orf142(NM_183241,chromosome 9 open reading frame 142,204aa) g.9:139888246G>A,c.604G>A,p.D202N
C9orf142(NM_183241,chromosome 9 open reading frame 142,204aa) g.9:139887803G>C,c.430G>C,p.E144Q
C9orf142(NM_183241,chromosome 9 open reading frame 142,204aa) g.9:139887676C>G,c.402C>G,p.S134R
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