基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179535019G>A,c.35312C>T,p.P11771L
TTN(NM_001267550,titin,35991aa) g.2:179529213T>C,c.36254A>G,p.Q12085R
TTN(NM_001267550,titin,35991aa) g.2:179528807T>A,c.36299A>T,p.E12100V
TTN(NM_001267550,titin,35991aa) g.2:179528759T>C,c.36347A>G,p.E12116G
TTN(NM_001267550,titin,35991aa) g.2:179528378C>T,c.36508G>A,p.E12170K
TTN(NM_001267550,titin,35991aa) g.2:179528377T>A,c.36509A>T,p.E12170V
TTN(NM_001267550,titin,35991aa) g.2:179528068C>A,c.36625G>T,p.V12209L
TTN(NM_001267550,titin,35991aa) g.2:179528017T>C,c.36676A>G,p.K12226E
TTN(NM_001267550,titin,35991aa) g.2:179527095G>A,c.37009C>T,p.P12337S
TTN(NM_001267550,titin,35991aa) g.2:179526524G>A,c.37247C>T,p.S12416L
TTN(NM_001267550,titin,35991aa) g.2:179523514T>A,c.37461A>T,p.E12487D
TTN(NM_001267550,titin,35991aa) g.2:179518979A>G,c.38336T>C,p.V12779A
TTN(NM_001267550,titin,35991aa) g.2:179518937T>C,c.38378A>G,p.K12793R
TTN(NM_001267550,titin,35991aa) g.2:179518003A>G,c.38753T>C,p.L12918S
TTN(NM_001267550,titin,35991aa) g.2:179517632G>A,c.38902C>T,p.P12968S
TTN(NM_001267550,titin,35991aa) g.2:179517605G>A,c.38929C>T,p.P12977S
TTN(NM_001267550,titin,35991aa) g.2:179517262T>C,c.39050A>G,p.E13017G
TTN(NM_001267550,titin,35991aa) g.2:179516261G>T,c.39466C>A,p.P13156T
TTN(NM_001267550,titin,35991aa) g.2:179515979G>A,c.39616C>T,p.P13206S
TTN(NM_001267550,titin,35991aa) g.2:179515483G>C,c.39704C>G,p.P13235R
TTN(NM_001267550,titin,35991aa) g.2:179514942_179514959del,c.39749_39766del,p.13250_13256del
TTN(NM_001267550,titin,35991aa) g.2:179510706G>A,c.40349C>T,p.P13450L
TTN(NM_001267550,titin,35991aa) g.2:179504795G>A,c.40766C>T,p.P13589L
TTN(NM_001267550,titin,35991aa) g.2:179500729C>T,c.41569G>A,p.A13857T
TTN(NM_001267550,titin,35991aa) g.2:179500307G>A,c.41744C>T,p.A13915V
TTN(NM_001267550,titin,35991aa) g.2:179500008G>A,c.41908C>T,p.P13970S
TTN(NM_001267550,titin,35991aa) g.2:179499530T>C,c.42071A>G,p.H14024R
TTN(NM_001267550,titin,35991aa) g.2:179499204C>T,c.42304G>A,p.A14102T
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