基因名 突变
KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) g.7:142641420T>A,c.1481A>T,p.E494V
KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) g.7:142640925G>A,c.1537C>T,p.R513W
KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) g.7:142640596T>G,c.1680A>C,p.P560P
KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) g.7:142640415G>A,c.1719C>T,p.G573G
KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) g.7:142640408C>G,c.1726G>C,p.G576R
KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) g.7:142640113A>G,c.1790T>C,p.L597P
KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) g.7:142640004T>C,c.1899A>G,p.L633L
KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) g.7:142639969G>A,c.1934C>T,p.A645V
KEL(NM_000420,Kell blood group, metallo-endopeptidase,732aa) g.7:142639595G>A,c.1963C>T,p.R655W
KEAP1(NM_203500,kelch-like ECH-associated protein 1,624aa) g.19:10610685C>T,c.25G>A,p.G9R
KEAP1(NM_203500,kelch-like ECH-associated protein 1,624aa) g.19:10610439C>T,c.271G>A,p.A91T
KEAP1(NM_203500,kelch-like ECH-associated protein 1,624aa) g.19:10602472A>G,c.1106T>C,p.V369A
KDSR(NM_002035,3-ketodihydrosphingosine reductase,332aa) g.18:61018218A>G,c.512T>C,p.V171A
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55984959C>G,c.170G>C,p.R57T
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55984825T>C,c.304A>G,p.K102E
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55984813G>A,c.316C>T,p.R106W
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55981531C>T,c.406G>A,p.V136M
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55979558C>T,c.889G>A,p.V297I
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55979552G>A,c.895C>T,p.R299W
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55972974T>A,c.1416A>T,p.Q472H
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55972946A>G,c.1444T>C,p.C482R
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55972029C>T,c.1615G>A,p.G539R
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55968660G>A,c.2003C>T,p.T668M
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55968597G>A,c.2066C>T,p.T689M
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55964435T>C,c.2378A>G,p.N793S
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55964373C>T,c.2440G>A,p.D814N
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55963927G>A,c.2516C>T,p.P839L
KDR(NM_002253,kinase insert domain receptor (a type III receptor tyrosine kinase),1356aa) g.4:55963919G>A,c.2524C>T,p.R842C
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