基因名 突变
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2021421G>T,c.961G>T,p.V321L
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2020571G>A,c.940G>A,p.A314T
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2020568C>T,c.937C>T,p.R313C
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2020542C>T,c.911C>T,p.T304M
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2020437C>T,c.806C>T,p.S269L
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2017449G>A,c.706G>A,p.G236R
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2017399C>T,c.656C>T,p.A219V
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2007336A>G,c.623A>G,p.N208S
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2005883C>T,c.545C>T,p.T182M
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2005813C>T,c.475C>T,p.R159W
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2005591C>G,c.389C>G,p.A130G
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2005572G>A,c.370G>A,p.D124N
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2000428G>T,c.260G>T,p.S87I
MYOM2(NM_003970,myomesin 2,1465aa) g.8:2000409G>A,c.241G>A,p.E81K
MYOM2(NM_003970,myomesin 2,1465aa) g.8:1998978C>A,c.98C>A,p.A33E
MYOM2(NM_003970,myomesin 2,1465aa) g.8:1998956C>T,c.76C>T,p.R26W
MYOM2(NM_003970,myomesin 2,1465aa) g.8:1998941C>T,c.61C>T,p.R21C
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3215158C>G,c.64G>C,p.V22L
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3215083T>C,c.139A>G,p.S47G
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3188978G>A,c.539C>T,p.T180I
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3188976A>G,c.541T>C,p.S181P
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3188927G>A,c.590C>T,p.T197M
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3188873G>A,c.644C>T,p.T215M
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3188778C>T,c.739G>A,p.E247K
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3187488G>A,c.919C>T,p.R307C
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3176070C>T,c.992G>A,p.R331Q
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3176040C>G,c.1022G>C,p.G341A
MYOM1(NM_003803,myomesin 1,1685aa) g.18:3164335G>C,c.1442C>G,p.T481R
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