基因名 突变
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128485240C>T,c.3721C>T,p.R1241C
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128484968G>A,c.3449G>A,p.R1150Q
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128483877G>C,c.2839G>C,p.G947R
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128483506G>A,c.2686G>A,p.G896R
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128482976C>T,c.2518C>T,p.R840C
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128482959C>T,c.2501C>T,p.T834M
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128482291G>A,c.2128G>A,p.D710N
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128482288G>A,c.2125G>A,p.A709T
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128481578A>C,c.2078A>C,p.D693A
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128481541G>A,c.2041G>A,p.G681S
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128481334G>A,c.1924G>A,p.V642I
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128480724C>G,c.1672C>G,p.R558G
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128480652G>A,c.1600G>A,p.E534K
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128480629G>A,c.1577G>A,p.R526Q
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128478800G>A,c.1354G>A,p.V452M
FLNC(NM_001458,filamin C, gamma,2725aa) g.7:128478071C>T,c.1000C>T,p.R334C
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58155386C>T,c.7580C>T,p.S2527L
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58154337G>A,c.7462G>A,p.G2488S
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58148900C>A,c.7134C>A,p.F2378L
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58145395G>A,c.7096G>A,p.V2366M
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58145348T>C,c.7049T>C,p.I2350T
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58140638A>T,c.6848A>T,p.Y2283F
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58140611A>G,c.6821A>G,p.H2274R
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58140580C>T,c.6790C>T,p.P2264S
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58140563C>G,c.6773C>G,p.S2258C
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58139323C>T,c.6682C>T,p.R2228W
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58139231C>T,c.6590C>T,p.T2197M
FLNB(NM_001164317,filamin B, beta,2633aa) g.3:58135649G>A,c.6257G>A,p.G2086D
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