基因名 突变
MARC1(NM_022746,mitochondrial amidoxime reducing component 1,337aa) g.1:220971349A>G,c.746A>G,p.Y249C
MARC1(NM_022746,mitochondrial amidoxime reducing component 1,337aa) g.1:220971339T>A,c.736T>A,p.C246S
MARC1(NM_022746,mitochondrial amidoxime reducing component 1,337aa) g.1:220971267G>A,c.664G>A,p.A222T
MARC1(NM_022746,mitochondrial amidoxime reducing component 1,337aa) g.1:220970101C>T,c.566C>T,p.P189L
MARC1(NM_022746,mitochondrial amidoxime reducing component 1,337aa) g.1:220970095T>A,c.560T>A,p.M187K
MARC1(NM_022746,mitochondrial amidoxime reducing component 1,337aa) g.1:220970028A>G,c.493A>G,p.T165A
MARC1(NM_022746,mitochondrial amidoxime reducing component 1,337aa) g.1:220969992G>A,c.457G>A,p.G153S
MARC1(NM_022746,mitochondrial amidoxime reducing component 1,337aa) g.1:220964889G>A,c.332G>A,p.R111H
MARC1(NM_022746,mitochondrial amidoxime reducing component 1,337aa) g.1:220964843G>C,c.286G>C,p.V96L
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44096073G>A,c.2092G>A,p.V698I
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44073950G>A,c.1747G>A,p.V583M
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44073923G>A,c.1720G>A,p.A574T
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44068850G>A,c.1405G>A,p.A469T
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44068827G>A,c.1382G>A,p.G461E
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44067400T>C,c.1339T>C,p.S447P
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44067382T>C,c.1321T>C,p.Y441H
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44067341C>T,c.1280C>T,p.S427F
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44064409G>A,c.1130G>A,p.R377H
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44061278C>T,c.1108C>T,p.R370W
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44061123C>T,c.953C>T,p.S318L
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44061036T>C,c.866T>C,p.V289A
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44061023G>A,c.853G>A,p.D285N
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44060859A>G,c.689A>G,p.Q230R
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44060841T>G,c.671T>G,p.V224G
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44060793G>A,c.623G>A,p.G208D
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44060775C>T,c.605C>T,p.P202L
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44060588C>T,c.418C>T,p.P140S
MAPT(NM_001123066,microtubule-associated protein tau,776aa) g.17:44055782G>A,c.349G>A,p.E117K
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