基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179640850G>A,c.5741C>T,p.A1914V
TTN(NM_001267550,titin,35991aa) g.2:179640702del,c.5889del,p.1963fs
TTN(NM_001267550,titin,35991aa) g.2:179640598C>T,c.5993G>A,p.R1998H
TTN(NM_001267550,titin,35991aa) g.2:179640551T>C,c.6040A>G,p.T2014A
TTN(NM_001267550,titin,35991aa) g.2:179640550G>A,c.6041C>T,p.T2014I
TTN(NM_001267550,titin,35991aa) g.2:179640101C>T,c.6490G>A,p.A2164T
TTN(NM_001267550,titin,35991aa) g.2:179639854T>C,c.6584A>G,p.E2195G
TTN(NM_001267550,titin,35991aa) g.2:179639770T>A,c.6668A>T,p.H2223L
TTN(NM_001267550,titin,35991aa) g.2:179639660G>T,c.6778C>A,p.L2260I
TTN(NM_001267550,titin,35991aa) g.2:179638721C>T,c.7174G>A,p.G2392S
TTN(NM_001267550,titin,35991aa) g.2:179638249C>T,c.7534G>A,p.E2512K
TTN(NM_001267550,titin,35991aa) g.2:179637980C>T,c.7711G>A,p.E2571K
TTN(NM_001267550,titin,35991aa) g.2:179637861C>G,c.7830G>C,p.M2610I
TTN(NM_001267550,titin,35991aa) g.2:179635985G>A,c.8069C>T,p.T2690I
TTN(NM_001267550,titin,35991aa) g.2:179635205C>T,c.8314G>A,p.V2772M
TTN(NM_001267550,titin,35991aa) g.2:179634994C>G,c.8434G>C,p.V2812L
TTN(NM_001267550,titin,35991aa) g.2:179634961C>A,c.8467G>T,p.V2823F
TTN(NM_001267550,titin,35991aa) g.2:179634936C>T,c.8492G>A,p.S2831N
TTN(NM_001267550,titin,35991aa) g.2:179634520C>T,c.8788G>A,p.V2930I
TTN(NM_001267550,titin,35991aa) g.2:179632619C>T,c.9338G>A,p.R3113H
TTN(NM_001267550,titin,35991aa) g.2:179632598C>T,c.9359G>A,p.R3120Q
TTN(NM_001267550,titin,35991aa) g.2:179632508C>T,c.9449G>A,p.R3150Q
TTN(NM_001267550,titin,35991aa) g.2:179632496T>C,c.9461A>G,p.K3154R
TTN(NM_001267550,titin,35991aa) g.2:179631324G>A,c.9487C>T,p.R3163C
TTN(NM_001267550,titin,35991aa) g.2:179631323C>T,c.9488G>A,p.R3163H
TTN(NM_001267550,titin,35991aa) g.2:179631240G>C,c.9571C>G,p.Q3191E
TTN(NM_001267550,titin,35991aa) g.2:179629493A>C,c.9749T>G,p.V3250G
TTN(NM_001267550,titin,35991aa) g.2:179629461C>T,c.9781G>A,p.V3261M
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