基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179414177G>A,c.92176C>T,p.P30726S
TTN(NM_001267550,titin,35991aa) g.2:179414162T>C,c.92191A>G,p.I30731V
TTN(NM_001267550,titin,35991aa) g.2:179413657A>G,c.92696T>C,p.I30899T
TTN(NM_001267550,titin,35991aa) g.2:179413654T>C,c.92699A>G,p.N30900S
TTN(NM_001267550,titin,35991aa) g.2:179413246A>G,c.93107T>C,p.M31036T
TTN(NM_001267550,titin,35991aa) g.2:179413187G>A,c.93166C>T,p.R31056X
TTN(NM_001267550,titin,35991aa) g.2:179412829C>T,c.93524G>A,p.R31175H
TTN(NM_001267550,titin,35991aa) g.2:179412628C>T,c.93725G>A,p.R31242H
TTN(NM_001267550,titin,35991aa) g.2:179412452C>T,c.93901G>A,p.V31301I
TTN(NM_001267550,titin,35991aa) g.2:179412337G>A,c.94016C>T,p.T31339I
TTN(NM_001267550,titin,35991aa) g.2:179412307C>T,c.94046G>A,p.R31349H
TTN(NM_001267550,titin,35991aa) g.2:179411327C>T,c.94828G>A,p.A31610T
TTN(NM_001267550,titin,35991aa) g.2:179411207A>T,c.94851T>A,p.D31617E
TTN(NM_001267550,titin,35991aa) g.2:179411011T>C,c.95047A>G,p.S31683G
TTN(NM_001267550,titin,35991aa) g.2:179410980G>T,c.95078C>A,p.A31693D
TTN(NM_001267550,titin,35991aa) g.2:179410693A>G,c.95270T>C,p.I31757T
TTN(NM_001267550,titin,35991aa) g.2:179410666G>A,c.95297C>T,p.S31766F
TTN(NM_001267550,titin,35991aa) g.2:179410282A>G,c.95555T>C,p.L31852P
TTN(NM_001267550,titin,35991aa) g.2:179408713A>G,c.96158T>C,p.I32053T
TTN(NM_001267550,titin,35991aa) g.2:179408641C>T,c.96230G>A,p.R32077Q
TTN(NM_001267550,titin,35991aa) g.2:179407482G>A,c.97099C>T,p.R32367C
TTN(NM_001267550,titin,35991aa) g.2:179407087C>T,c.97396G>A,p.E32466K
TTN(NM_001267550,titin,35991aa) g.2:179406191C>T,c.97613G>A,p.R32538H
TTN(NM_001267550,titin,35991aa) g.2:179406044C>T,c.97760G>A,p.R32587H
TTN(NM_001267550,titin,35991aa) g.2:179404688G>T,c.98104C>A,p.P32702T
TTN(NM_001267550,titin,35991aa) g.2:179404628T>A,c.98164A>T,p.I32722F
TTN(NM_001267550,titin,35991aa) g.2:179404550G>A,c.98242C>T,p.R32748C
TTN(NM_001267550,titin,35991aa) g.2:179404498G>C,c.98294C>G,p.A32765G
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