基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179465643T>C,c.55988A>G,p.N18663S
TTN(NM_001267550,titin,35991aa) g.2:179464527T>C,c.56101A>G,p.N18701D
TTN(NM_001267550,titin,35991aa) g.2:179464457T>C,c.56171A>G,p.K18724R
TTN(NM_001267550,titin,35991aa) g.2:179464365G>A,c.56263C>T,p.R18755C
TTN(NM_001267550,titin,35991aa) g.2:179463751C>T,c.56686G>A,p.V18896M
TTN(NM_001267550,titin,35991aa) g.2:179463477A>G,c.56960T>C,p.I18987T
TTN(NM_001267550,titin,35991aa) g.2:179462655A>G,c.57242T>C,p.I19081T
TTN(NM_001267550,titin,35991aa) g.2:179460311C>T,c.57770G>A,p.R19257Q
TTN(NM_001267550,titin,35991aa) g.2:179460285T>C,c.57796A>G,p.M19266V
TTN(NM_001267550,titin,35991aa) g.2:179459361C>T,c.57860G>A,p.R19287H
TTN(NM_001267550,titin,35991aa) g.2:179459250C>T,c.57971G>A,p.R19324Q
TTN(NM_001267550,titin,35991aa) g.2:179459149G>A,c.58072C>T,p.R19358C
TTN(NM_001267550,titin,35991aa) g.2:179458949C>T,c.58171G>A,p.D19391N
TTN(NM_001267550,titin,35991aa) g.2:179458894C>T,c.58226G>A,p.R19409H
TTN(NM_001267550,titin,35991aa) g.2:179458591C>T,c.58436G>A,p.R19479H
TTN(NM_001267550,titin,35991aa) g.2:179458351A>T,c.58676T>A,p.L19559Q
TTN(NM_001267550,titin,35991aa) g.2:179458059C>T,c.58876G>A,p.A19626T
TTN(NM_001267550,titin,35991aa) g.2:179457681A>G,c.59165T>C,p.V19722A
TTN(NM_001267550,titin,35991aa) g.2:179457147G>A,c.59585C>T,p.P19862L
TTN(NM_001267550,titin,35991aa) g.2:179456220C>T,c.60232G>A,p.V20078M
TTN(NM_001267550,titin,35991aa) g.2:179455631G>A,c.60821C>T,p.P20274L
TTN(NM_001267550,titin,35991aa) g.2:179455524G>A,c.60928C>T,p.R20310C
TTN(NM_001267550,titin,35991aa) g.2:179455520C>T,c.60932G>A,p.R20311Q
TTN(NM_001267550,titin,35991aa) g.2:179455176G>A,c.61276C>T,p.L20426F
TTN(NM_001267550,titin,35991aa) g.2:179454530C>T,c.61922G>A,p.R20641Q
TTN(NM_001267550,titin,35991aa) g.2:179454303T>C,c.62149A>G,p.R20717G
TTN(NM_001267550,titin,35991aa) g.2:179453906G>A,c.62546C>T,p.T20849M
TTN(NM_001267550,titin,35991aa) g.2:179453880T>C,c.62572A>G,p.T20858A
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