基因名 突变
TTN(NM_001267550,titin,35991aa) g.2:179582535G>A,c.25066C>T,p.R8356C
TTN(NM_001267550,titin,35991aa) g.2:179582327C>T,c.25274G>A,p.S8425N
TTN(NM_001267550,titin,35991aa) g.2:179582063A>T,c.25398T>A,p.D8466E
TTN(NM_001267550,titin,35991aa) g.2:179581971C>T,c.25490G>A,p.R8497H
TTN(NM_001267550,titin,35991aa) g.2:179581864T>C,c.25597A>G,p.I8533V
TTN(NM_001267550,titin,35991aa) g.2:179581835C>A,c.25626G>T,p.Q8542H
TTN(NM_001267550,titin,35991aa) g.2:179580340C>A,c.25801G>T,p.V8601F
TTN(NM_001267550,titin,35991aa) g.2:179579977G>A,c.25936C>T,p.R8646C
TTN(NM_001267550,titin,35991aa) g.2:179579769C>T,c.26144G>A,p.C8715Y
TTN(NM_001267550,titin,35991aa) g.2:179579093T>C,c.26408A>G,p.N8803S
TTN(NM_001267550,titin,35991aa) g.2:179579037C>T,c.26464G>A,p.A8822T
TTN(NM_001267550,titin,35991aa) g.2:179578857G>A,c.26528C>T,p.T8843M
TTN(NM_001267550,titin,35991aa) g.2:179578704G>A,c.26681C>T,p.P8894L
TTN(NM_001267550,titin,35991aa) g.2:179578012T>C,c.26849A>G,p.Y8950C
TTN(NM_001267550,titin,35991aa) g.2:179577998T>C,c.26863A>G,p.I8955V
TTN(NM_001267550,titin,35991aa) g.2:179576016A>C,c.27947T>G,p.L9316R
TTN(NM_001267550,titin,35991aa) g.2:179576011C>A,c.27952G>T,p.V9318F
TTN(NM_001267550,titin,35991aa) g.2:179575969C>T,c.27994G>A,p.V9332M
TTN(NM_001267550,titin,35991aa) g.2:179575951C>T,c.28012G>A,p.G9338S
TTN(NM_001267550,titin,35991aa) g.2:179575562G>A,c.28262C>T,p.T9421M
TTN(NM_001267550,titin,35991aa) g.2:179575511C>T,c.28313G>A,p.R9438Q
TTN(NM_001267550,titin,35991aa) g.2:179574581G>A,c.28465C>T,p.R9489W
TTN(NM_001267550,titin,35991aa) g.2:179574539C>T,c.28507G>A,p.V9503I
TTN(NM_001267550,titin,35991aa) g.2:179574499C>T,c.28547G>A,p.R9516H
TTN(NM_001267550,titin,35991aa) g.2:179574325G>C,c.28721C>G,p.S9574C
TTN(NM_001267550,titin,35991aa) g.2:179574313G>A,c.28733C>T,p.T9578M
TTN(NM_001267550,titin,35991aa) g.2:179572475C>T,c.28819G>A,p.V9607M
TTN(NM_001267550,titin,35991aa) g.2:179572445C>T,c.28849G>A,p.E9617K
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