基因名 突变
HIGD1C(NM_001109619,HIG1 hypoxia inducible domain family, member 1C,97aa) g.12:51364227G>A,c.232G>A,p.V78I
HIGD1C(NM_001109619,HIG1 hypoxia inducible domain family, member 1C,97aa) g.12:51354842G>A,c.186G>A,p.M62I
HIGD1C(NM_001109619,HIG1 hypoxia inducible domain family, member 1C,97aa) g.12:51354780T>C,c.124T>C,p.C42R
HIGD1C(NM_001109619,HIG1 hypoxia inducible domain family, member 1C,97aa) g.12:51347833C>T,c.52C>T,p.R18X
HIGD1C(NM_001109619,HIG1 hypoxia inducible domain family, member 1C,97aa) g.12:51347786C>T,c.5C>T,p.S2F
HIGD1B(NM_016438,HIG1 hypoxia inducible domain family, member 1B,99aa) g.17:42927723G>A,c.259G>A,p.D87N
HIGD1B(NM_016438,HIG1 hypoxia inducible domain family, member 1B,99aa) g.17:42927721G>A,c.257G>A,p.S86N
HIGD1B(NM_016438,HIG1 hypoxia inducible domain family, member 1B,99aa) g.17:42926663C>T,c.142C>T,p.R48W
HIGD1A(NM_001099668,HIG1 hypoxia inducible domain family, member 1A,107aa) g.3:42845676T>C,c.8A>G,p.Q3R
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46832665C>T,c.1636C>T,p.R546W
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46832597G>A,c.1568G>A,p.R523Q
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46832596C>T,c.1567C>T,p.R523W
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46828843T>C,c.1381T>C,p.F461L
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46825149A>G,c.1255A>G,p.I419V
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46823803C>T,c.1123C>T,p.P375S
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46823777C>A,c.1097C>A,p.A366D
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46823702A>G,c.1022A>G,p.Q341R
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46812490C>T,c.638C>T,p.P213L
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46812451C>T,c.599C>T,p.A200V
HIF3A(NM_152794,hypoxia inducible factor 3, alpha subunit,667aa) g.19:46811935A>C,c.458A>C,p.K153T
HIF1AN(NM_017902,hypoxia inducible factor 1, alpha subunit inhibitor,349aa) g.10:102295836C>G,c.121C>G,p.P41A
HIF1A(NM_001530,hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor),826aa) g.14:62207731G>C,c.1918G>C,p.A640P
HIF1A(NM_001530,hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor),826aa) g.14:62207705G>A,c.1892G>A,p.R631H
HIF1A(NM_001530,hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor),826aa) g.14:62207654C>T,c.1841C>T,p.A614V
HIF1A(NM_001530,hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor),826aa) g.14:62207575G>A,c.1762G>A,p.A588T
HIF1A(NM_001530,hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor),826aa) g.14:62207557C>T,c.1744C>T,p.P582S
HIF1A(NM_001530,hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor),826aa) g.14:62204819G>T,c.1264G>T,p.D422Y
HIF1A(NM_001530,hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor),826aa) g.14:62204808C>T,c.1253C>T,p.T418I
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