基因名 突变
DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) g.6:38702357C>T,c.718C>T,p.R240C
DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) g.6:38697703C>T,c.551C>T,p.A184V
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196922836T>A,c.20A>T,p.K7I
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196912179G>C,c.295C>G,p.Q99E
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196912113G>A,c.361C>T,p.R121X
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196892746C>T,c.424G>A,p.A142T
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196892701T>C,c.469A>G,p.I157V
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196892695T>C,c.475A>G,p.K159E
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196891613T>C,c.538A>G,p.M180V
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196889160G>A,c.736C>T,p.R246C
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196883925C>T,c.838G>A,p.A280T
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196877557T>C,c.943A>G,p.I315V
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196866433A>C,c.1139T>G,p.M380R
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196865507A>G,c.1274T>C,p.I425T
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196852887C>T,c.1420G>A,p.E474K
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196852767C>T,c.1540G>A,p.A514T
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196851911G>A,c.1633C>T,p.R545C
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196851910C>T,c.1634G>A,p.R545H
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196851900C>T,c.1644G>A,p.M548I
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196851841C>T,c.1703G>A,p.C568Y
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196837129G>C,c.1895C>G,p.S632C
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196837093T>C,c.1931A>G,p.N644S
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196834805C>T,c.2072G>A,p.R691Q
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196825402T>C,c.2473A>G,p.K825E
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196825359G>C,c.2516C>G,p.P839R
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196825238C>A,c.2637G>T,p.M879I
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196822063C>T,c.3000G>A,p.M1000I
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196822004A>G,c.3059T>C,p.I1020T
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