基因名 突变
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196799394A>G,c.3392T>C,p.I1131T
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196788373_196788374insT,c.3770_3771insA,p.1257fs
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196788362T>A,c.3782A>T,p.D1261V
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196771409G>A,c.4309C>T,p.R1437X
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196765098G>A,c.4456C>T,p.R1486C
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196762444T>C,c.4594A>G,p.I1532V
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196759927G>A,c.4669C>T,p.P1557S
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196759828C>T,c.4768G>A,p.E1590K
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196759792G>A,c.4804C>T,p.R1602C
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196753672G>C,c.5080C>G,p.P1694A
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196750930C>A,c.5473G>T,p.D1825Y
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196749512T>C,c.5560A>G,p.I1854V
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196749503C>T,c.5569G>A,p.V1857I
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196749422G>A,c.5650C>T,p.R1884X
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196740524T>C,c.6161A>G,p.Y2054C
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196740420T>C,c.6265A>G,p.M2089V
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196738365T>C,c.6340A>G,p.T2114A
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196737115C>T,c.6492G>A,p.M2164I
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196729724G>A,c.6655C>T,p.R2219C
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196729660T>C,c.6719A>G,p.Y2240C
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196729589C>A,c.6790G>T,p.D2264Y
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196729430G>A,c.6949C>T,p.R2317X
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196728931C>T,c.7448G>A,p.R2483Q
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196728886A>G,c.7493T>C,p.I2498T
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196726484C>T,c.7693G>A,p.E2565K
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196726471G>A,c.7706C>T,p.T2569I
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196726465T>C,c.7712A>G,p.K2571R
DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) g.2:196723203C>A,c.8062G>T,p.A2688S
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