基因名 突变
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23641001C>G,c.2474G>C,p.R825T
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23637715G>A,c.2590C>T,p.P864S
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23637562C>T,c.2743G>A,p.A915T
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23635370C>T,c.2794G>A,p.V932M
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23635348A>C,c.2816T>G,p.L939W
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23634293C>T,c.2993G>A,p.G998E
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23632770del,c.3026del,p.1009fs
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23632742C>G,c.3054G>C,p.E1018D
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23619310A>T,c.3225T>A,p.S1075R
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23619278C>T,c.3257G>A,p.R1086Q
PALB2(NM_024675,partner and localizer of BRCA2,1186aa) g.16:23614844del,c.3497del,p.1166fs
PAK7(NM_020341,p21 protein (Cdc42/Rac)-activated kinase 7,719aa) g.20:9561429C>T,c.353G>A,p.G118D
PAK7(NM_020341,p21 protein (Cdc42/Rac)-activated kinase 7,719aa) g.20:9561223G>C,c.559C>G,p.P187A
PAK7(NM_020341,p21 protein (Cdc42/Rac)-activated kinase 7,719aa) g.20:9560961T>C,c.821A>G,p.N274S
PAK7(NM_020341,p21 protein (Cdc42/Rac)-activated kinase 7,719aa) g.20:9547022C>G,c.1000G>C,p.D334H
PAK7(NM_020341,p21 protein (Cdc42/Rac)-activated kinase 7,719aa) g.20:9547018C>G,c.1004G>C,p.R335P
PAK7(NM_020341,p21 protein (Cdc42/Rac)-activated kinase 7,719aa) g.20:9543622C>T,c.1532G>A,p.S511N
PAK7(NM_020341,p21 protein (Cdc42/Rac)-activated kinase 7,719aa) g.20:9538335C>A,c.1663G>T,p.A555S
PAK7(NM_020341,p21 protein (Cdc42/Rac)-activated kinase 7,719aa) g.20:9523244C>T,c.1993G>A,p.D665N
PAK7(NM_020341,p21 protein (Cdc42/Rac)-activated kinase 7,719aa) g.20:9520228A>C,c.2041T>G,p.L681V
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40565098A>G,c.1388A>G,p.N463S
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40564840G>A,c.1274G>A,p.R425Q
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40564693C>T,c.1127C>T,p.A376V
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40564675C>T,c.1109C>T,p.P370L
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40564576C>T,c.1010C>T,p.P337L
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40564566C>T,c.1000C>T,p.R334C
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40558623G>A,c.785G>A,p.R262Q
PAK6(NM_001276718,p21 protein (Cdc42/Rac)-activated kinase 6,636aa) g.15:40558502C>T,c.664C>T,p.H222Y
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