基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179629358G>A,c.9884C>T,p.T3295M
TTN(NM_001267550,titin,35991aa) g.2:179629334G>A,c.9908C>T,p.P3303L
TTN(NM_001267550,titin,35991aa) g.2:179628918C>T,c.10100G>A,p.R3367Q
TTN(NM_001267550,titin,35991aa) g.2:179623851C>T,c.10163G>A,p.R3388Q
TTN(NM_001267550,titin,35991aa) g.2:179623758C>T,c.10256G>A,p.S3419N
TTN(NM_001267550,titin,35991aa) g.2:179621503C>T,c.10700G>A,p.S3567N
TTN(NM_001267550,titin,35991aa) g.2:179621477C>T,c.10726G>A,p.A3576T
TTN(NM_001267550,titin,35991aa) g.2:179621272C>T,c.10931G>A,p.S3644N
TTN(NM_001267550,titin,35991aa) g.2:179621236G>A,c.10967C>T,p.T3656M
TTN(NM_001267550,titin,35991aa) g.2:179621140A>G,c.11063T>C,p.F3688S
TTN(NM_001267550,titin,35991aa) g.2:179620951C>T,c.11252G>A,p.G3751D
TTN(NM_001267550,titin,35991aa) g.2:179620948C>G,c.11254+1G>C,p.3752Donor
TTN(NM_001267550,titin,35991aa) g.2:179606538G>A,c.11422C>T,p.P3808S
TTN(NM_001267550,titin,35991aa) g.2:179605991G>A,c.11969C>T,p.P3990L
TTN(NM_001267550,titin,35991aa) g.2:179605964T>C,c.11996A>G,p.N3999S
TTN(NM_001267550,titin,35991aa) g.2:179605815G>A,c.12145C>T,p.P4049S
TTN(NM_001267550,titin,35991aa) g.2:179605725T>C,c.12235A>G,p.I4079V
TTN(NM_001267550,titin,35991aa) g.2:179605380T>A,c.12580A>T,p.I4194F
TTN(NM_001267550,titin,35991aa) g.2:179605005C>T,c.12955G>A,p.A4319T
TTN(NM_001267550,titin,35991aa) g.2:179604366T>G,c.13594A>C,p.T4532P
TTN(NM_001267550,titin,35991aa) g.2:179604160T>G,c.13800A>C,p.L4600F
TTN(NM_001267550,titin,35991aa) g.2:179604101C>T,c.13859G>A,p.G4620D
TTN(NM_001267550,titin,35991aa) g.2:179603991T>G,c.13969A>C,p.N4657H
TTN(NM_001267550,titin,35991aa) g.2:179603955C>T,c.14005G>A,p.E4669K
TTN(NM_001267550,titin,35991aa) g.2:179602991C>T,c.14189G>A,p.R4730Q
TTN(NM_001267550,titin,35991aa) g.2:179602948G>T,c.14232C>A,p.D4744E
TTN(NM_001267550,titin,35991aa) g.2:179602841C>T,c.14339G>A,p.S4780N
TTN(NM_001267550,titin,35991aa) g.2:179600648C>T,c.14525G>A,p.R4842K
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