基因名 突变
PGA5(NM_014224,pepsinogen 5, group I (pepsinogen A),388aa) g.11:61018712G>A,c.1126G>A,p.D376N
PGA5(NM_014224,pepsinogen 5, group I (pepsinogen A),388aa) g.11:61017460G>A,c.991G>A,p.V331M
PGA5(NM_014224,pepsinogen 5, group I (pepsinogen A),388aa) g.11:61017410T>A,c.941T>A,p.I314N
PGA5(NM_014224,pepsinogen 5, group I (pepsinogen A),388aa) g.11:61017259G>A,c.892G>A,p.G298R
PGA5(NM_014224,pepsinogen 5, group I (pepsinogen A),388aa) g.11:61017205A>G,c.838A>G,p.T280A
PGA5(NM_014224,pepsinogen 5, group I (pepsinogen A),388aa) g.11:61017184C>T,c.817C>T,p.Q273X
PGA5(NM_014224,pepsinogen 5, group I (pepsinogen A),388aa) g.11:61017160A>G,c.793A>G,p.T265A
PGA5(NM_014224,pepsinogen 5, group I (pepsinogen A),388aa) g.11:61015898A>C,c.664A>C,p.K222Q
PGA3(NM_001079807,pepsinogen 3, group I (pepsinogen A),388aa) g.11:60971611G>A,c.89G>A,p.R30H
PGA3(NM_001079807,pepsinogen 3, group I (pepsinogen A),388aa) g.11:60971041A>G,c.5A>G,p.K2R
PFN4(NM_199346,profilin family, member 4,129aa) g.2:24344065G>A,c.223C>T,p.R75W
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3178021C>T,c.2192C>T,p.T731M
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3178017C>A,c.2188C>A,p.Q730K
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3176765C>T,c.2089C>T,p.R697W
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3172020C>T,c.1669C>T,p.R557C
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3162192G>A,c.1615G>A,p.D539N
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3162130A>G,c.1553A>G,p.E518G
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3151656T>A,c.1049T>A,p.M350K
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3151613G>A,c.1006G>A,p.V336I
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3149415C>T,c.760C>T,p.R254W
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3145991G>A,c.451G>A,p.V151M
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3143746G>A,c.430G>A,p.G144S
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3143603G>A,c.287G>A,p.R96Q
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3143193G>C,c.240+1G>C,p.80Donor
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3143179G>A,c.227G>A,p.R76Q
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3143161G>A,c.209G>A,p.R70H
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3141487C>T,c.103C>T,p.R35W
PFKP(NM_001242339,phosphofructokinase, platelet,776aa) g.10:3124587C>T,c.16C>T,p.R6C
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