基因名 突变
LRRN1(NM_020873,leucine rich repeat neuronal 1,716aa) g.3:3887508C>G,c.1183C>G,p.L395V
LRRN1(NM_020873,leucine rich repeat neuronal 1,716aa) g.3:3887313C>T,c.988C>T,p.R330C
LRRN1(NM_020873,leucine rich repeat neuronal 1,716aa) g.3:3887238C>T,c.913C>T,p.R305C
LRRN1(NM_020873,leucine rich repeat neuronal 1,716aa) g.3:3886806C>A,c.481C>A,p.H161N
LRRN1(NM_020873,leucine rich repeat neuronal 1,716aa) g.3:3886665G>A,c.340G>A,p.G114R
LRRN1(NM_020873,leucine rich repeat neuronal 1,716aa) g.3:3886395G>A,c.70G>A,p.E24K
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40761466G>A,c.7483G>A,p.V2495I
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40758652T>C,c.7190T>C,p.M2397T
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40757328G>A,c.7153G>A,p.G2385R
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40753202T>G,c.6984T>G,p.N2328K
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40753146A>G,c.6928A>G,p.T2310A
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40745381C>T,c.6422C>T,p.T2141M
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40740686A>G,c.6241A>G,p.N2081D
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40728833G>A,c.5822G>A,p.R1941H
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40713901T>A,c.4939T>A,p.S1647T
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40713899T>C,c.4937T>C,p.M1646T
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40713845G>C,c.4883G>C,p.R1628P
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40713845G>A,c.4883G>A,p.R1628H
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40707861C>T,c.4624C>T,p.P1542S
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40707778G>A,c.4541G>A,p.R1514Q
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40704425A>C,c.4510A>C,p.I1504L
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40704363G>A,c.4448G>A,p.R1483Q
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40704252C>T,c.4337C>T,p.P1446L
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40702911G>A,c.4193G>A,p.R1398H
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40702471C>A,c.4162C>A,p.L1388I
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40702420A>G,c.4111A>G,p.I1371V
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40702283G>A,c.3974G>A,p.R1325Q
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40702269G>T,c.3960G>T,p.R1320S
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