基因名 突变
CHRNA6(NM_004198,cholinergic receptor, nicotinic, alpha 6 (neuronal),494aa) g.8:42620320C>G,c.107G>C,p.R36T
CHRNA6(NM_004198,cholinergic receptor, nicotinic, alpha 6 (neuronal),494aa) g.8:42620289G>C,c.138C>G,p.N46K
CHRNA6(NM_004198,cholinergic receptor, nicotinic, alpha 6 (neuronal),494aa) g.8:42612158C>T,c.287G>A,p.R96H
CHRNA6(NM_004198,cholinergic receptor, nicotinic, alpha 6 (neuronal),494aa) g.8:42612154C>G,c.291G>C,p.W97C
CHRNA6(NM_004198,cholinergic receptor, nicotinic, alpha 6 (neuronal),494aa) g.8:42611864del,c.478del,p.160fs
CHRNA6(NM_004198,cholinergic receptor, nicotinic, alpha 6 (neuronal),494aa) g.8:42611387C>T,c.955G>A,p.V319M
CHRNA6(NM_004198,cholinergic receptor, nicotinic, alpha 6 (neuronal),494aa) g.8:42611231G>A,c.1111C>T,p.P371S
CHRNA6(NM_004198,cholinergic receptor, nicotinic, alpha 6 (neuronal),494aa) g.8:42611074G>A,c.1268C>T,p.S423L
CHRNA6(NM_004198,cholinergic receptor, nicotinic, alpha 6 (neuronal),494aa) g.8:42611032T>C,c.1310A>G,p.Q437R
CHRNA6(NM_004198,cholinergic receptor, nicotinic, alpha 6 (neuronal),494aa) g.8:42611002T>C,c.1340A>G,p.N447S
CHRNA5(NM_000745,cholinergic receptor, nicotinic, alpha 5 (neuronal),468aa) g.15:78885574T>A,c.1386T>A,p.H462Q
CHRNA5(NM_000745,cholinergic receptor, nicotinic, alpha 5 (neuronal),468aa) g.15:78882925G>A,c.1192G>A,p.D398N
CHRNA5(NM_000745,cholinergic receptor, nicotinic, alpha 5 (neuronal),468aa) g.15:78882821T>A,c.1088T>A,p.L363Q
CHRNA5(NM_000745,cholinergic receptor, nicotinic, alpha 5 (neuronal),468aa) g.15:78882331A>G,c.598A>G,p.I200V
CHRNA5(NM_000745,cholinergic receptor, nicotinic, alpha 5 (neuronal),468aa) g.15:78880752G>A,c.400G>A,p.V134I
CHRNA5(NM_000745,cholinergic receptor, nicotinic, alpha 5 (neuronal),468aa) g.15:78873282C>G,c.236C>G,p.A79G
CHRNA5(NM_000745,cholinergic receptor, nicotinic, alpha 5 (neuronal),468aa) g.15:78873257_78873261del,c.211_215del,p.71fs
CHRNA5(NM_000745,cholinergic receptor, nicotinic, alpha 5 (neuronal),468aa) g.15:78873213A>T,c.167A>T,p.Q56L
CHRNA4(NM_000744,cholinergic receptor, nicotinic, alpha 4 (neuronal),627aa) g.20:61991033G>T,c.95C>A,p.T32N
CHRNA4(NM_000744,cholinergic receptor, nicotinic, alpha 4 (neuronal),627aa) g.20:61987415G>A,c.295C>T,p.R99C
CHRNA4(NM_000744,cholinergic receptor, nicotinic, alpha 4 (neuronal),627aa) g.20:61981756C>T,c.1007G>A,p.R336H
CHRNA4(NM_000744,cholinergic receptor, nicotinic, alpha 4 (neuronal),627aa) g.20:61981753G>A,c.1010C>T,p.T337M
CHRNA4(NM_000744,cholinergic receptor, nicotinic, alpha 4 (neuronal),627aa) g.20:61981702C>T,c.1061G>A,p.R354H
CHRNA4(NM_000744,cholinergic receptor, nicotinic, alpha 4 (neuronal),627aa) g.20:61981676C>T,c.1087G>A,p.V363M
CHRNA4(NM_000744,cholinergic receptor, nicotinic, alpha 4 (neuronal),627aa) g.20:61981625T>C,c.1138A>G,p.S380G
CHRNA4(NM_000744,cholinergic receptor, nicotinic, alpha 4 (neuronal),627aa) g.20:61981411G>A,c.1352C>T,p.P451L
CHRNA4(NM_000744,cholinergic receptor, nicotinic, alpha 4 (neuronal),627aa) g.20:61981303C>T,c.1460G>A,p.R487Q
CHRNA4(NM_000744,cholinergic receptor, nicotinic, alpha 4 (neuronal),627aa) g.20:61981213G>A,c.1550C>T,p.S517L
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