基因名 突变
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40699593C>G,c.3784C>G,p.P1262A
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40693014G>A,c.3451G>A,p.A1151T
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40692281G>T,c.3333G>T,p.Q1111H
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40692148G>A,c.3200G>A,p.R1067Q
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40688702C>T,c.2864C>T,p.S955L
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40687431G>A,c.2774G>A,p.C925Y
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40687426G>C,c.2769G>C,p.Q923H
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40687418G>A,c.2761G>A,p.V921I
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40677699C>T,c.2264C>T,p.P755L
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40671989A>G,c.2167A>G,p.I723V
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40671945_40671946insA,c.2123_2124insA,p.708fs
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40657700C>G,c.1653C>G,p.N551K
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40646786C>T,c.1256C>T,p.A419V
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40645130del,c.1055del,p.352fs
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40645075G>A,c.1000G>A,p.E334K
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40634411C>T,c.698C>T,p.A233V
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40634404T>C,c.691T>C,p.S231P
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40634345C>T,c.632C>T,p.A211V
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40626185A>G,c.347A>G,p.Q116R
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40626182A>C,c.344A>C,p.H115P
LRRK2(NM_198578,leucine-rich repeat kinase 2,2527aa) g.12:40619082G>A,c.149G>A,p.R50H
LRRK1(NM_024652,leucine-rich repeat kinase 1,2015aa) g.15:101609021C>T,c.6016C>T,p.R2006W
LRRK1(NM_024652,leucine-rich repeat kinase 1,2015aa) g.15:101609009G>A,c.6004G>A,p.E2002K
LRRK1(NM_024652,leucine-rich repeat kinase 1,2015aa) g.15:101608958G>A,c.5953G>A,p.V1985I
LRRK1(NM_024652,leucine-rich repeat kinase 1,2015aa) g.15:101606889G>A,c.5813G>A,p.G1938D
LRRK1(NM_024652,leucine-rich repeat kinase 1,2015aa) g.15:101606370G>A,c.5728G>A,p.V1910M
LRRK1(NM_024652,leucine-rich repeat kinase 1,2015aa) g.15:101606290C>T,c.5648C>T,p.T1883M
LRRK1(NM_024652,leucine-rich repeat kinase 1,2015aa) g.15:101606215G>A,c.5573G>A,p.S1858N
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