基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179481222C>T,c.48296G>A,p.R16099Q
TTN(NM_001267550,titin,35991aa) g.2:179480475T>C,c.48353A>G,p.D16118G
TTN(NM_001267550,titin,35991aa) g.2:179480434G>A,c.48394C>T,p.R16132C
TTN(NM_001267550,titin,35991aa) g.2:179479652G>A,c.48682C>T,p.R16228C
TTN(NM_001267550,titin,35991aa) g.2:179479607G>A,c.48727C>T,p.P16243S
TTN(NM_001267550,titin,35991aa) g.2:179479288A>G,c.48953T>C,p.I16318T
TTN(NM_001267550,titin,35991aa) g.2:179478952C>T,c.49172G>A,p.R16391Q
TTN(NM_001267550,titin,35991aa) g.2:179477529C>G,c.49919G>C,p.S16640T
TTN(NM_001267550,titin,35991aa) g.2:179477267T>G,c.49985A>C,p.N16662T
TTN(NM_001267550,titin,35991aa) g.2:179476314C>G,c.50642G>C,p.G16881A
TTN(NM_001267550,titin,35991aa) g.2:179476242C>T,c.50714G>A,p.R16905H
TTN(NM_001267550,titin,35991aa) g.2:179475078T>C,c.51175A>G,p.I17059V
TTN(NM_001267550,titin,35991aa) g.2:179474668G>A,c.51482C>T,p.A17161V
TTN(NM_001267550,titin,35991aa) g.2:179474015C>T,c.52022G>A,p.R17341Q
TTN(NM_001267550,titin,35991aa) g.2:179473407C>T,c.52331G>A,p.R17444H
TTN(NM_001267550,titin,35991aa) g.2:179473201G>T,c.52409C>A,p.P17470Q
TTN(NM_001267550,titin,35991aa) g.2:179472319C>T,c.53096G>A,p.R17699H
TTN(NM_001267550,titin,35991aa) g.2:179472292T>A,c.53123A>T,p.K17708I
TTN(NM_001267550,titin,35991aa) g.2:179472256A>G,c.53159T>C,p.I17720T
TTN(NM_001267550,titin,35991aa) g.2:179472223A>G,c.53192T>C,p.I17731T
TTN(NM_001267550,titin,35991aa) g.2:179471822C>T,c.53507G>A,p.R17836H
TTN(NM_001267550,titin,35991aa) g.2:179471768A>T,c.53561T>A,p.I17854N
TTN(NM_001267550,titin,35991aa) g.2:179469756G>A,c.54148C>T,p.R18050C
TTN(NM_001267550,titin,35991aa) g.2:179468771G>A,c.54643C>T,p.R18215C
TTN(NM_001267550,titin,35991aa) g.2:179468753T>C,c.54661A>G,p.I18221V
TTN(NM_001267550,titin,35991aa) g.2:179468729C>T,c.54685G>A,p.V18229M
TTN(NM_001267550,titin,35991aa) g.2:179465706A>T,c.55925T>A,p.L18642Q
TTN(NM_001267550,titin,35991aa) g.2:179465658C>T,c.55973G>A,p.R18658Q
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