基因名 突变
GCNT3(NM_004751,glucosaminyl (N-acetyl) transferase 3, mucin type,438aa) g.15:59910456C>T,c.19C>T,p.L7F
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10557444del,c.788del,p.263fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10557410del,c.754del,p.252fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10557297del,c.641del,p.214fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10557287del,c.631del,p.211fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10557272del,c.616del,p.206fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10557242del,c.586del,p.196fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10557039del,c.383del,p.128fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10556994del,c.338del,p.113fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10556969del,c.313del,p.105fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10556886del,c.230del,p.77fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10556818del,c.162del,p.54fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10556806del,c.150del,p.50fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10556749del,c.93del,p.31fs
GCNT2(NM_001491,glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),400aa) g.6:10556664T>C,c.8T>C,p.L3S
GCNT1(NM_001097634,glucosaminyl (N-acetyl) transferase 1, core 2,428aa) g.9:79118400C>T,c.1103C>T,p.P368L
GCNT1(NM_001097634,glucosaminyl (N-acetyl) transferase 1, core 2,428aa) g.9:79118081G>A,c.784G>A,p.V262I
GCNT1(NM_001097634,glucosaminyl (N-acetyl) transferase 1, core 2,428aa) g.9:79117770C>G,c.473C>G,p.S158C
GCNT1(NM_001097634,glucosaminyl (N-acetyl) transferase 1, core 2,428aa) g.9:79117751A>G,c.454A>G,p.I152V
GCNT1(NM_001097634,glucosaminyl (N-acetyl) transferase 1, core 2,428aa) g.9:79117571G>A,c.274G>A,p.D92N
GCNT1(NM_001097634,glucosaminyl (N-acetyl) transferase 1, core 2,428aa) g.9:79117388G>A,c.91G>A,p.V31I
GC(NM_000583,group-specific component (vitamin D binding protein),474aa) g.4:72649726C>T,c.10G>A,p.V4I
GC(NM_000583,group-specific component (vitamin D binding protein),474aa) g.4:72635115G>A,c.61C>T,p.R21W
GC(NM_000583,group-specific component (vitamin D binding protein),474aa) g.4:72635114C>T,c.62G>A,p.R21Q
GC(NM_000583,group-specific component (vitamin D binding protein),474aa) g.4:72623839C>T,c.751G>A,p.V251I
GC(NM_000583,group-specific component (vitamin D binding protein),474aa) g.4:72623829A>G,c.761T>C,p.L254P
GC(NM_000583,group-specific component (vitamin D binding protein),474aa) g.4:72622601T>C,c.862A>G,p.N288D
GC(NM_000583,group-specific component (vitamin D binding protein),474aa) g.4:72622499C>T,c.964G>A,p.E322K
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