基因名 突变
CHRM4(NM_000741,cholinergic receptor, muscarinic 4,479aa) g.11:46407321C>T,c.787G>A,p.A263T
CHRM4(NM_000741,cholinergic receptor, muscarinic 4,479aa) g.11:46407144C>T,c.964G>A,p.A322T
CHRM4(NM_000741,cholinergic receptor, muscarinic 4,479aa) g.11:46407008A>G,c.1100T>C,p.M367T
CHRM4(NM_000741,cholinergic receptor, muscarinic 4,479aa) g.11:46406991C>T,c.1117G>A,p.V373M
CHRM3(NM_000740,cholinergic receptor, muscarinic 3,590aa) g.1:240072517C>A,c.1766C>A,p.A589D
CHRM3(NM_000740,cholinergic receptor, muscarinic 3,590aa) g.1:240071991G>A,c.1240G>A,p.V414M
CHRM3(NM_000740,cholinergic receptor, muscarinic 3,590aa) g.1:240071808G>A,c.1057G>A,p.D353N
CHRM3(NM_000740,cholinergic receptor, muscarinic 3,590aa) g.1:240071680G>A,c.929G>A,p.R310H
CHRM3(NM_000740,cholinergic receptor, muscarinic 3,590aa) g.1:240071579G>C,c.828G>C,p.E276D
CHRM3(NM_000740,cholinergic receptor, muscarinic 3,590aa) g.1:240070944G>A,c.193G>A,p.V65I
CHRM3(NM_000740,cholinergic receptor, muscarinic 3,590aa) g.1:240070882G>A,c.131G>A,p.R44Q
CHRM3(NM_000740,cholinergic receptor, muscarinic 3,590aa) g.1:240070851G>A,c.100G>A,p.V34I
CHRM3(NM_000740,cholinergic receptor, muscarinic 3,590aa) g.1:240070830G>T,c.79G>T,p.A27S
CHRM2(NM_001006630,cholinergic receptor, muscarinic 2,466aa) g.7:136701002G>A,c.1390G>A,p.A464T
CHRM2(NM_001006630,cholinergic receptor, muscarinic 2,466aa) g.7:136700726C>G,c.1114C>G,p.P372A
CHRM2(NM_001006630,cholinergic receptor, muscarinic 2,466aa) g.7:136700603A>T,c.991A>T,p.T331S
CHRM2(NM_001006630,cholinergic receptor, muscarinic 2,466aa) g.7:136700385A>G,c.773A>G,p.N258S
CHRM2(NM_001006630,cholinergic receptor, muscarinic 2,466aa) g.7:136700315C>A,c.703C>A,p.L235M
CHRM2(NM_001006630,cholinergic receptor, muscarinic 2,466aa) g.7:136700303G>A,c.691G>A,p.V231I
CHRM1(NM_000738,cholinergic receptor, muscarinic 1,460aa) g.11:62677762C>T,c.811G>A,p.A271T
CHRFAM7A(NM_139320,CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion,412a g.15:30665281_30665282del,c.227_228del,p.76fs
CHRFAM7A(NM_139320,CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion,412a g.15:30665201T>C,c.308A>G,p.N103S
CHRFAM7A(NM_139320,CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion,412a g.15:30664460C>T,c.413G>A,p.R138H
CHRFAM7A(NM_139320,CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion,412a g.15:30659641C>T,c.700G>A,p.G234R
CHRD(NM_003741,chordin,955aa) g.3:184106783C>T,c.2812C>T,p.P938S
CHRD(NM_003741,chordin,955aa) g.3:184104688C>T,c.2252C>T,p.P751L
CHRD(NM_003741,chordin,955aa) g.3:184104310G>A,c.1963G>A,p.G655R
CHRD(NM_003741,chordin,955aa) g.3:184103903A>C,c.1888A>C,p.M630L
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