基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179442081G>A,c.68981C>T,p.T22994I
TTN(NM_001267550,titin,35991aa) g.2:179441985A>G,c.69077T>C,p.F23026S
TTN(NM_001267550,titin,35991aa) g.2:179441932G>A,c.69130C>T,p.P23044S
TTN(NM_001267550,titin,35991aa) g.2:179441917T>C,c.69145A>G,p.I23049V
TTN(NM_001267550,titin,35991aa) g.2:179441295T>C,c.69676A>G,p.S23226G
TTN(NM_001267550,titin,35991aa) g.2:179441038C>T,c.69821G>A,p.G23274D
TTN(NM_001267550,titin,35991aa) g.2:179440955C>T,c.69904G>A,p.V23302I
TTN(NM_001267550,titin,35991aa) g.2:179440696C>T,c.70163G>A,p.R23388Q
TTN(NM_001267550,titin,35991aa) g.2:179440163C>G,c.70696G>C,p.G23566R
TTN(NM_001267550,titin,35991aa) g.2:179439952C>T,c.70907G>A,p.R23636H
TTN(NM_001267550,titin,35991aa) g.2:179439907A>C,c.70952T>G,p.I23651S
TTN(NM_001267550,titin,35991aa) g.2:179439518C>T,c.71341G>A,p.V23781I
TTN(NM_001267550,titin,35991aa) g.2:179439490C>T,c.71369G>A,p.R23790H
TTN(NM_001267550,titin,35991aa) g.2:179439154A>G,c.71705T>C,p.I23902T
TTN(NM_001267550,titin,35991aa) g.2:179438866C>T,c.71993G>A,p.R23998H
TTN(NM_001267550,titin,35991aa) g.2:179438746G>A,c.72113C>T,p.T24038M
TTN(NM_001267550,titin,35991aa) g.2:179438713A>G,c.72146T>C,p.L24049P
TTN(NM_001267550,titin,35991aa) g.2:179438633A>C,c.72226T>G,p.L24076V
TTN(NM_001267550,titin,35991aa) g.2:179438557G>T,c.72302C>A,p.T24101N
TTN(NM_001267550,titin,35991aa) g.2:179438501G>A,c.72358C>T,p.L24120F
TTN(NM_001267550,titin,35991aa) g.2:179438273G>A,c.72586C>T,p.R24196C
TTN(NM_001267550,titin,35991aa) g.2:179438093T>C,c.72766A>G,p.N24256D
TTN(NM_001267550,titin,35991aa) g.2:179438057G>A,c.72802C>T,p.R24268C
TTN(NM_001267550,titin,35991aa) g.2:179438056C>T,c.72803G>A,p.R24268H
TTN(NM_001267550,titin,35991aa) g.2:179437928T>C,c.72931A>G,p.T24311A
TTN(NM_001267550,titin,35991aa) g.2:179437691T>C,c.73168A>G,p.T24390A
TTN(NM_001267550,titin,35991aa) g.2:179437255G>T,c.73604C>A,p.S24535Y
TTN(NM_001267550,titin,35991aa) g.2:179436865G>A,c.73994C>T,p.T24665M
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