基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179593352C>T,c.19301G>A,p.S6434N
TTN(NM_001267550,titin,35991aa) g.2:179593070A>C,c.19481T>G,p.L6494R
TTN(NM_001267550,titin,35991aa) g.2:179591917T>C,c.20175A>G,p.I6725M
TTN(NM_001267550,titin,35991aa) g.2:179590564C>T,c.20485G>A,p.G6829S
TTN(NM_001267550,titin,35991aa) g.2:179590329C>T,c.20602G>A,p.G6868R
TTN(NM_001267550,titin,35991aa) g.2:179589241G>A,c.20861C>T,p.A6954V
TTN(NM_001267550,titin,35991aa) g.2:179589058G>A,c.21044C>T,p.A7015V
TTN(NM_001267550,titin,35991aa) g.2:179588622C>T,c.21364G>A,p.A7122T
TTN(NM_001267550,titin,35991aa) g.2:179587955G>T,c.21779C>A,p.S7260Y
TTN(NM_001267550,titin,35991aa) g.2:179587130C>G,c.22384G>C,p.D7462H
TTN(NM_001267550,titin,35991aa) g.2:179586756C>T,c.22634G>A,p.R7545Q
TTN(NM_001267550,titin,35991aa) g.2:179586723C>T,c.22667G>A,p.R7556H
TTN(NM_001267550,titin,35991aa) g.2:179586604C>G,c.22786G>C,p.D7596H
TTN(NM_001267550,titin,35991aa) g.2:179585717C>T,c.23029G>A,p.G7677R
TTN(NM_001267550,titin,35991aa) g.2:179585312G>A,c.23177C>T,p.S7726L
TTN(NM_001267550,titin,35991aa) g.2:179585257G>C,c.23232C>G,p.N7744K
TTN(NM_001267550,titin,35991aa) g.2:179585187C>T,c.23302G>A,p.D7768N
TTN(NM_001267550,titin,35991aa) g.2:179585181C>T,c.23308G>A,p.G7770R
TTN(NM_001267550,titin,35991aa) g.2:179585136A>G,c.23353T>C,p.C7785R
TTN(NM_001267550,titin,35991aa) g.2:179584914C>G,c.23455G>C,p.E7819Q
TTN(NM_001267550,titin,35991aa) g.2:179584831G>C,c.23538C>G,p.F7846L
TTN(NM_001267550,titin,35991aa) g.2:179584152G>A,c.23965C>T,p.R7989C
TTN(NM_001267550,titin,35991aa) g.2:179584042A>C,c.24075T>G,p.I8025M
TTN(NM_001267550,titin,35991aa) g.2:179583496T>G,c.24431A>C,p.E8144A
TTN(NM_001267550,titin,35991aa) g.2:179582913C>T,c.24820G>A,p.E8274K
TTN(NM_001267550,titin,35991aa) g.2:179582853T>C,c.24880A>G,p.R8294G
TTN(NM_001267550,titin,35991aa) g.2:179582760T>C,c.24973A>G,p.K8325E
TTN(NM_001267550,titin,35991aa) g.2:179582537G>T,c.25064C>A,p.A8355E
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