基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179429612A>G,c.81247T>C,p.S27083P
TTN(NM_001267550,titin,35991aa) g.2:179429320A>G,c.81539T>C,p.I27180T
TTN(NM_001267550,titin,35991aa) g.2:179428960C>T,c.81899G>A,p.R27300H
TTN(NM_001267550,titin,35991aa) g.2:179428921C>T,c.81938G>A,p.G27313E
TTN(NM_001267550,titin,35991aa) g.2:179428778G>C,c.82081C>G,p.P27361A
TTN(NM_001267550,titin,35991aa) g.2:179428299G>T,c.82560C>A,p.N27520K
TTN(NM_001267550,titin,35991aa) g.2:179428171C>T,c.82688G>A,p.R27563H
TTN(NM_001267550,titin,35991aa) g.2:179428168G>A,c.82691C>T,p.A27564V
TTN(NM_001267550,titin,35991aa) g.2:179428061C>T,c.82798G>A,p.A27600T
TTN(NM_001267550,titin,35991aa) g.2:179428049C>T,c.82810G>A,p.G27604S
TTN(NM_001267550,titin,35991aa) g.2:179427796C>T,c.83063G>A,p.R27688H
TTN(NM_001267550,titin,35991aa) g.2:179427779G>A,c.83080C>T,p.R27694C
TTN(NM_001267550,titin,35991aa) g.2:179427587A>G,c.83272T>C,p.F27758L
TTN(NM_001267550,titin,35991aa) g.2:179427536T>C,c.83323A>G,p.I27775V
TTN(NM_001267550,titin,35991aa) g.2:179427508G>A,c.83351C>T,p.T27784M
TTN(NM_001267550,titin,35991aa) g.2:179427343C>T,c.83516G>A,p.R27839Q
TTN(NM_001267550,titin,35991aa) g.2:179426398G>A,c.84461C>T,p.P28154L
TTN(NM_001267550,titin,35991aa) g.2:179425988G>A,c.84871C>T,p.R28291C
TTN(NM_001267550,titin,35991aa) g.2:179425966C>T,c.84893G>A,p.R28298Q
TTN(NM_001267550,titin,35991aa) g.2:179425894C>T,c.84965G>A,p.R28322H
TTN(NM_001267550,titin,35991aa) g.2:179425768C>T,c.85091G>A,p.R28364Q
TTN(NM_001267550,titin,35991aa) g.2:179425453G>C,c.85406C>G,p.S28469C
TTN(NM_001267550,titin,35991aa) g.2:179425387C>T,c.85472G>A,p.R28491H
TTN(NM_001267550,titin,35991aa) g.2:179425208G>T,c.85651C>A,p.P28551T
TTN(NM_001267550,titin,35991aa) g.2:179424742C>T,c.86117G>A,p.R28706Q
TTN(NM_001267550,titin,35991aa) g.2:179424176C>T,c.86683G>A,p.V28895M
TTN(NM_001267550,titin,35991aa) g.2:179423251C>T,c.86935G>A,p.V28979I
TTN(NM_001267550,titin,35991aa) g.2:179422815A>G,c.87266T>C,p.M29089T
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