基因名 突变
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48030706_48030707insT,c.3320_3321insT,p.1107fs
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48030692del,c.3306del,p.1102fs
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48030685C>T,c.3299C>T,p.T1100M
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48030646C>A,c.3260C>A,p.P1087H
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48030640del,c.3254del,p.1085fs
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48030639_48030640insC,c.3253_3254insC,p.1085fs
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48030631C>T,c.3245C>T,p.P1082L
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48030630C>T,c.3244C>T,p.P1082S
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48030592G>A,c.3206G>A,p.G1069E
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48030588C>T,c.3202C>T,p.R1068X
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48027834T>G,c.2712T>G,p.D904E
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48027824G>A,c.2702G>A,p.R901H
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48027755T>C,c.2633T>C,p.V878A
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48027683A>T,c.2561A>T,p.K854M
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48027295A>G,c.2173A>G,p.I725V
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48027195_48027196insA,c.2073_2074insA,p.691fs
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48027059A>G,c.1937A>G,p.K646R
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48027016del,c.1894del,p.632fs
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48026852G>A,c.1730G>A,p.R577H
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48026153del,c.1031del,p.344fs
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48025857del,c.735del,p.245fs
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48025785A>C,c.663A>C,p.E221D
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48025764C>T,c.642C>T,p.Y214Y
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48010488G>A,c.116G>A,p.G39E
MSH6(NM_000179,mutS homolog 6,1360aa) g.2:48010479C>T,c.107C>T,p.A36V
MSH5(NM_002441,mutS homolog 5,834aa) g.6:31729925C>T,c.2356C>T,p.P786S
MSH5(NM_002441,mutS homolog 5,834aa) g.6:31729904C>T,c.2335C>T,p.R779C
MSH5(NM_002441,mutS homolog 5,834aa) g.6:31729376C>T,c.2165C>T,p.P722L
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