基因名 突变
HNF4A(NM_001258355,hepatocyte nuclear factor 4, alpha,467aa) g.20:43058189C>T,c.1288C>T,p.P430S
HNF4A(NM_001258355,hepatocyte nuclear factor 4, alpha,467aa) g.20:43052672A>G,c.886A>G,p.S296G
HNF4A(NM_001258355,hepatocyte nuclear factor 4, alpha,467aa) g.20:43048414G>A,c.769G>A,p.V257M
HNF4A(NM_001258355,hepatocyte nuclear factor 4, alpha,467aa) g.20:43043289C>T,c.614C>T,p.P205L
HNF4A(NM_001258355,hepatocyte nuclear factor 4, alpha,467aa) g.20:43042364C>T,c.395C>T,p.T132I
HNF4A(NM_001258355,hepatocyte nuclear factor 4, alpha,467aa) g.20:43034701C>T,c.98C>T,p.T33M
HNF1B(NM_000458,HNF1 homeobox B,557aa) g.17:36104803C>A,c.73G>T,p.V25L
HNF1B(NM_000458,HNF1 homeobox B,557aa) g.17:36104563C>T,c.313G>A,p.E105K
HNF1B(NM_000458,HNF1 homeobox B,557aa) g.17:36091625G>C,c.1006C>G,p.H336D
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121438953C>G,c.1854C>G,p.I618M
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121437410G>A,c.1748G>A,p.R583Q
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121437382A>G,c.1720A>G,p.S574G
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121437110A>G,c.1541A>G,p.H514R
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121435427G>A,c.1460G>A,p.S487N
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121434501T>C,c.1265T>C,p.L422P
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121434361del,c.1125del,p.375fs
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121434086C>T,c.977C>T,p.A326V
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121432117G>C,c.864G>C,p.G288G
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121431382A>G,c.586A>G,p.T196A
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121416864C>T,c.293C>T,p.A98V
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121416756A>G,c.185A>G,p.N62S
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121416697del,c.126del,p.42fs
HNF1A(NM_000545,HNF1 homeobox A,631aa) g.12:121416650A>C,c.79A>C,p.I27L
HN1(NM_001002033,hematological and neurological expressed 1,108aa) g.17:73143679G>C,c.131C>G,p.A44G
HN1(NM_001002033,hematological and neurological expressed 1,108aa) g.17:73142764G>A,c.175C>T,p.H59Y
HN1L(NM_144570,hematological and neurological expressed 1-like,190aa) g.16:1748853G>A,c.427G>A,p.G143S
HMX3(NM_001105574,H6 family homeobox 3,357aa) g.10:124897149G>A,c.976G>A,p.A326T
HMX3(NM_001105574,H6 family homeobox 3,357aa) g.10:124896817G>A,c.644G>A,p.G215D
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