基因名 突变
HIF1A(NM_001530,hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor),826aa) g.14:62203623G>A,c.1045G>A,p.D349N
HIF1A(NM_001530,hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor),826aa) g.14:62203617C>G,c.1039C>G,p.Q347E
HIF1A(NM_001530,hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor),826aa) g.14:62187212G>C,c.148G>C,p.V50L
HID1(NM_030630,HID1 domain containing,788aa) g.17:72959177C>A,c.388-1G>T,p.130Acceptor
HID1(NM_030630,HID1 domain containing,788aa) g.17:72958366G>A,c.574C>T,p.H192Y
HID1(NM_030630,HID1 domain containing,788aa) g.17:72958339C>T,c.601G>A,p.D201N
HID1(NM_030630,HID1 domain containing,788aa) g.17:72947697C>T,c.2335G>A,p.D779N
HIC2(NM_015094,hypermethylated in cancer 2,615aa) g.22:21800610G>C,c.1426G>C,p.A476P
HIC2(NM_015094,hypermethylated in cancer 2,615aa) g.22:21800485C>T,c.1301C>T,p.T434M
HIC2(NM_015094,hypermethylated in cancer 2,615aa) g.22:21800451G>A,c.1267G>A,p.A423T
HIC2(NM_015094,hypermethylated in cancer 2,615aa) g.22:21800277G>A,c.1093G>A,p.E365K
HIC2(NM_015094,hypermethylated in cancer 2,615aa) g.22:21800269C>T,c.1085C>T,p.P362L
HIC2(NM_015094,hypermethylated in cancer 2,615aa) g.22:21800049G>A,c.865G>A,p.V289I
HIC2(NM_015094,hypermethylated in cancer 2,615aa) g.22:21799758C>T,c.574C>T,p.P192S
HIC2(NM_015094,hypermethylated in cancer 2,615aa) g.22:21799519C>T,c.335C>T,p.A112V
HIC1(NM_006497,hypermethylated in cancer 1,714aa) g.17:1961863C>T,c.1879C>T,p.P627S
HIC1(NM_006497,hypermethylated in cancer 1,714aa) g.17:1961035C>G,c.1051C>G,p.P351A
HIC1(NM_006497,hypermethylated in cancer 1,714aa) g.17:1960939C>G,c.955C>G,p.L319V
HIBCH(NM_014362,3-hydroxyisobutyryl-CoA hydrolase,386aa) g.2:191184475A>G,c.2T>C,p.M1T
HIBCH(NM_014362,3-hydroxyisobutyryl-CoA hydrolase,386aa) g.2:191161633T>C,c.125A>G,p.K42R
HIBCH(NM_014362,3-hydroxyisobutyryl-CoA hydrolase,386aa) g.2:191161622T>C,c.136A>G,p.T46A
HIBCH(NM_014362,3-hydroxyisobutyryl-CoA hydrolase,386aa) g.2:191125911C>G,c.488G>C,p.C163S
HIBCH(NM_014362,3-hydroxyisobutyryl-CoA hydrolase,386aa) g.2:191110893C>T,c.796G>A,p.D266N
HIBADH(NM_152740,3-hydroxyisobutyrate dehydrogenase,336aa) g.7:27570942C>A,c.721G>T,p.A241S
HIATL1(NM_032558,hippocampus abundant transcript-like 1,506aa) g.9:97221596C>T,c.1423C>T,p.R475W
HIATL1(NM_032558,hippocampus abundant transcript-like 1,506aa) g.9:97220715C>T,c.1238C>T,p.P413L
HIATL1(NM_032558,hippocampus abundant transcript-like 1,506aa) g.9:97209190A>G,c.815A>G,p.Y272C
HIATL1(NM_032558,hippocampus abundant transcript-like 1,506aa) g.9:97207424G>C,c.689G>C,p.W230S
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