基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179650715C>T,c.2230G>A,p.A744T
TTN(NM_001267550,titin,35991aa) g.2:179650587G>C,c.2358C>G,p.H786Q
TTN(NM_001267550,titin,35991aa) g.2:179650412G>A,c.2428C>T,p.R810C
TTN(NM_001267550,titin,35991aa) g.2:179650408G>A,c.2432C>T,p.T811I
TTN(NM_001267550,titin,35991aa) g.2:179648886C>T,c.2686G>A,p.V896I
TTN(NM_001267550,titin,35991aa) g.2:179648805C>T,c.2767G>A,p.E923K
TTN(NM_001267550,titin,35991aa) g.2:179647637C>T,c.2996G>A,p.R999H
TTN(NM_001267550,titin,35991aa) g.2:179647631A>C,c.3002T>G,p.M1001R
TTN(NM_001267550,titin,35991aa) g.2:179647297C>T,c.3133G>A,p.V1045M
TTN(NM_001267550,titin,35991aa) g.2:179645962C>G,c.3409G>C,p.G1137R
TTN(NM_001267550,titin,35991aa) g.2:179644855T>C,c.3601A>G,p.K1201E
TTN(NM_001267550,titin,35991aa) g.2:179644035G>A,c.3884C>T,p.S1295L
TTN(NM_001267550,titin,35991aa) g.2:179643775C>T,c.4034G>A,p.G1345D
TTN(NM_001267550,titin,35991aa) g.2:179643632T>C,c.4177A>G,p.I1393V
TTN(NM_001267550,titin,35991aa) g.2:179642665G>A,c.4246C>T,p.R1416C
TTN(NM_001267550,titin,35991aa) g.2:179642650G>A,c.4261C>T,p.R1421W
TTN(NM_001267550,titin,35991aa) g.2:179642589C>G,c.4322G>C,p.R1441P
TTN(NM_001267550,titin,35991aa) g.2:179642583A>G,c.4328T>C,p.L1443P
TTN(NM_001267550,titin,35991aa) g.2:179642552T>A,c.4359A>T,p.R1453S
TTN(NM_001267550,titin,35991aa) g.2:179641975C>T,c.4715G>A,p.R1572Q
TTN(NM_001267550,titin,35991aa) g.2:179641619T>C,c.4972A>G,p.R1658G
TTN(NM_001267550,titin,35991aa) g.2:179641600C>T,c.4991G>A,p.R1664Q
TTN(NM_001267550,titin,35991aa) g.2:179641543C>T,c.5048G>A,p.R1683Q
TTN(NM_001267550,titin,35991aa) g.2:179641505C>T,c.5086G>A,p.D1696N
TTN(NM_001267550,titin,35991aa) g.2:179641360G>A,c.5231C>T,p.P1744L
TTN(NM_001267550,titin,35991aa) g.2:179641277T>C,c.5314A>G,p.S1772G
TTN(NM_001267550,titin,35991aa) g.2:179641127T>G,c.5464A>C,p.M1822L
TTN(NM_001267550,titin,35991aa) g.2:179640851C>T,c.5740G>A,p.A1914T
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