基因名 突变
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37092019G>A,c.2146G>A,p.V716M
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37090506C>A,c.2101C>A,p.Q701K
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37090476A>G,c.2071A>G,p.I691V
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37090411del,c.2006del,p.669fs
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37090087G>A,c.1976G>A,p.R659Q
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37090070G>T,c.1959G>T,p.L653L
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37089130_37089131AA>GC,c.1852_1853AA>GC,p.N618A
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37089020C>T,c.1742C>T,p.P581L
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37089011A>G,c.1733A>G,p.E578G
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37083821C>T,c.1730C>T,p.S577L
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37070390C>T,c.1525C>T,p.L509F
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37070354C>T,c.1489C>T,p.R497W
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37070352C>G,c.1487C>G,p.P496R
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37070349del,c.1484del,p.495fs
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37070348_37070349insC,c.1483_1484insC,p.495fs
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37067410G>A,c.1321G>A,p.A441T
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37067396del,c.1307del,p.436fs
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37067306G>A,c.1217G>A,p.S406N
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37067242C>T,c.1153C>T,p.R385C
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37067240T>A,c.1151T>A,p.V384D
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37067192C>T,c.1103C>T,p.S368L
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37061893T>C,c.977T>C,p.V326A
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37059009A>G,c.803A>G,p.E268G
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37053568A>G,c.655A>G,p.I219V
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37053562C>T,c.649C>T,p.R217C
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37053557A>G,c.644A>G,p.N215S
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37050348_37050349insA,c.497_498insA,p.166fs
MLH1(NM_000249,mutL homolog 1,756aa) g.3:37050315del,c.464del,p.155fs
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