基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179600549G>C,c.14624C>G,p.A4875G
TTN(NM_001267550,titin,35991aa) g.2:179600475C>T,c.14698G>A,p.A4900T
TTN(NM_001267550,titin,35991aa) g.2:179600408C>T,c.14765G>A,p.S4922N
TTN(NM_001267550,titin,35991aa) g.2:179600303G>C,c.14870C>G,p.T4957S
TTN(NM_001267550,titin,35991aa) g.2:179599667G>C,c.14984C>G,p.P4995R
TTN(NM_001267550,titin,35991aa) g.2:179599611T>A,c.15040A>T,p.T5014S
TTN(NM_001267550,titin,35991aa) g.2:179599473C>T,c.15178G>A,p.V5060I
TTN(NM_001267550,titin,35991aa) g.2:179599473C>G,c.15178G>C,p.V5060L
TTN(NM_001267550,titin,35991aa) g.2:179598563C>T,c.15553G>A,p.V5185I
TTN(NM_001267550,titin,35991aa) g.2:179598097C>T,c.15923G>A,p.R5308Q
TTN(NM_001267550,titin,35991aa) g.2:179597992G>A,c.16028C>T,p.S5343F
TTN(NM_001267550,titin,35991aa) g.2:179597812C>T,c.16091G>A,p.R5364H
TTN(NM_001267550,titin,35991aa) g.2:179597600C>T,c.16303G>A,p.V5435M
TTN(NM_001267550,titin,35991aa) g.2:179597397C>G,c.16391G>C,p.G5464A
TTN(NM_001267550,titin,35991aa) g.2:179597259T>C,c.16529A>G,p.Y5510C
TTN(NM_001267550,titin,35991aa) g.2:179597239A>C,c.16549T>G,p.S5517A
TTN(NM_001267550,titin,35991aa) g.2:179596668G>A,c.16934C>T,p.P5645L
TTN(NM_001267550,titin,35991aa) g.2:179596554T>C,c.17048A>G,p.Y5683C
TTN(NM_001267550,titin,35991aa) g.2:179595849C>T,c.17543G>A,p.G5848E
TTN(NM_001267550,titin,35991aa) g.2:179595389T>A,c.17871A>T,p.Q5957H
TTN(NM_001267550,titin,35991aa) g.2:179595372T>C,c.17888A>G,p.E5963G
TTN(NM_001267550,titin,35991aa) g.2:179594601A>C,c.18379T>G,p.C6127G
TTN(NM_001267550,titin,35991aa) g.2:179594573C>T,c.18407G>A,p.R6136Q
TTN(NM_001267550,titin,35991aa) g.2:179594107G>C,c.18776C>G,p.T6259S
TTN(NM_001267550,titin,35991aa) g.2:179594059T>C,c.18824A>G,p.N6275S
TTN(NM_001267550,titin,35991aa) g.2:179593872A>G,c.18893T>C,p.I6298T
TTN(NM_001267550,titin,35991aa) g.2:179593503G>T,c.19150C>A,p.P6384T
TTN(NM_001267550,titin,35991aa) g.2:179593449T>C,c.19204A>G,p.M6402V
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