基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179571595C>T,c.29128G>A,p.V9710I
TTN(NM_001267550,titin,35991aa) g.2:179571448A>G,c.29153T>C,p.I9718T
TTN(NM_001267550,titin,35991aa) g.2:179571418T>C,c.29183A>G,p.N9728S
TTN(NM_001267550,titin,35991aa) g.2:179569387T>A,c.29812A>T,p.T9938S
TTN(NM_001267550,titin,35991aa) g.2:179569261C>T,c.29938G>A,p.A9980T
TTN(NM_001267550,titin,35991aa) g.2:179567340G>A,c.30274C>T,p.H10092Y
TTN(NM_001267550,titin,35991aa) g.2:179566921G>A,c.30485C>T,p.T10162M
TTN(NM_001267550,titin,35991aa) g.2:179563642C>A,c.30683-1G>T,p.10228Acceptor
TTN(NM_001267550,titin,35991aa) g.2:179560847C>T,c.30952G>A,p.E10318K
TTN(NM_001267550,titin,35991aa) g.2:179559353C>T,c.31399G>A,p.V10467I
TTN(NM_001267550,titin,35991aa) g.2:179558721T>C,c.31441A>G,p.T10481A
TTN(NM_001267550,titin,35991aa) g.2:179558366T>C,c.31564A>G,p.I10522V
TTN(NM_001267550,titin,35991aa) g.2:179556770T>G,c.31735A>C,p.K10579Q
TTN(NM_001267550,titin,35991aa) g.2:179554305C>T,c.31864G>A,p.G10622R
TTN(NM_001267550,titin,35991aa) g.2:179553804C>T,c.32071G>A,p.A10691T
TTN(NM_001267550,titin,35991aa) g.2:179553415G>A,c.32186C>T,p.T10729M
TTN(NM_001267550,titin,35991aa) g.2:179549988G>A,c.32462C>T,p.P10821L
TTN(NM_001267550,titin,35991aa) g.2:179549707G>A,c.32480C>T,p.A10827V
TTN(NM_001267550,titin,35991aa) g.2:179549407G>A,c.32624C>T,p.P10875L
TTN(NM_001267550,titin,35991aa) g.2:179549131C>T,c.32648G>A,p.R10883K
TTN(NM_001267550,titin,35991aa) g.2:179547564C>G,c.32954G>C,p.R10985P
TTN(NM_001267550,titin,35991aa) g.2:179547465C>T,c.33053G>A,p.R11018Q
TTN(NM_001267550,titin,35991aa) g.2:179546396G>A,c.33164C>T,p.P11055L
TTN(NM_001267550,titin,35991aa) g.2:179545859C>T,c.33287G>A,p.R11096H
TTN(NM_001267550,titin,35991aa) g.2:179544983C>G,c.33416G>C,p.R11139T
TTN(NM_001267550,titin,35991aa) g.2:179543195C>T,c.33856G>A,p.E11286K
TTN(NM_001267550,titin,35991aa) g.2:179539812T>G,c.34566A>C,p.E11522D
TTN(NM_001267550,titin,35991aa) g.2:179535861T>G,c.35264A>C,p.K11755T
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