基因名 突变
SERAC1(NM_032861,serine active site containing 1,654aa) g.6:158537225C>G,c.1493G>C,p.S498T
SERAC1(NM_032861,serine active site containing 1,654aa) g.6:158532430G>A,c.1933C>T,p.R645C
SEPW1(NM_003009,selenoprotein W, 1,87aa) g.19:48284163C>T,c.97C>T,p.R33C
SEPT9(NM_006640,septin 9,568aa) g.17:75494705A>G,c.1672A>G,p.M558V
SEPT9(NM_006640,septin 9,568aa) g.17:75494678G>A,c.1645G>A,p.E549K
SEPT9(NM_006640,septin 9,568aa) g.17:75488774C>G,c.1398C>G,p.D466E
SEPT9(NM_006640,septin 9,568aa) g.17:75486856G>A,c.1241G>A,p.R414H
SEPT9(NM_006640,septin 9,568aa) g.17:75398774G>A,c.656G>A,p.R219Q
SEPT9(NM_006640,septin 9,568aa) g.17:75398578G>A,c.460G>A,p.V154I
SEPT9(NM_006640,septin 9,568aa) g.17:75398498C>T,c.380C>T,p.P127L
SEPT9(NM_006640,septin 9,568aa) g.17:75398281C>T,c.163C>T,p.P55S
SEPT9(NM_006640,septin 9,568aa) g.17:75398266G>A,c.148G>A,p.V50M
SEPT8(NM_015146,septin 8,429aa) g.5:132098270A>G,c.602T>C,p.I201T
SEPT8(NM_015146,septin 8,429aa) g.5:132097240T>G,c.872A>C,p.Q291P
SEPT8(NM_015146,septin 8,429aa) g.5:132097207C>T,c.905G>A,p.R302H
SEPT6(NM_145799,septin 6,427aa) g.X:118763453G>A,c.1108C>T,p.R370C
SEPT5(NM_001009939,septin 5,346aa) g.22:19707757G>A,c.385G>A,p.E129K
SEPT4(NM_080415,septin 4,274aa) g.17:56604215G>A,c.128C>T,p.P43L
SEPT3(NM_019106,septin 3,350aa) g.22:42390746G>A,c.1039G>A,p.D347N
SEPT3(NM_019106,septin 3,350aa) g.22:42383245G>A,c.367G>A,p.V123I
SEPT3(NM_019106,septin 3,350aa) g.22:42377715C>T,c.77C>T,p.A26V
SEPT2(NM_001008491,septin 2,361aa) g.2:242289575G>A,c.1072G>A,p.G358R
SEPT1(NM_052838,septin 1,414aa) g.16:30393435G>A,c.301C>T,p.R101C
SEPT1(NM_052838,septin 1,414aa) g.16:30393201C>T,c.326G>A,p.R109H
SEPT1(NM_052838,septin 1,414aa) g.16:30393171C>T,c.356G>A,p.R119Q
SEPT1(NM_052838,septin 1,414aa) g.16:30393159A>G,c.368T>C,p.I123T
SEPT1(NM_052838,septin 1,414aa) g.16:30393147C>A,c.380G>T,p.G127V
SEPT1(NM_052838,septin 1,414aa) g.16:30390818A>C,c.839T>G,p.V280G
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