基因名 突变
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145435570G>A,c.1349G>A,p.R450Q
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145428677T>G,c.1191T>G,p.D397E
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145427383G>A,c.1108G>A,p.V370M
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145427353G>A,c.1078G>A,p.A360T
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145393594A>C,c.1029A>C,p.K343N
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145393493C>T,c.928C>T,p.R310W
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145393410C>T,c.845C>T,p.T282M
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145393364C>T,c.799C>T,p.R267C
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145393322G>T,c.757G>T,p.A253S
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145393322G>A,c.757G>A,p.A253T
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145383627A>G,c.655A>G,p.I219V
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145379844G>A,c.602G>A,p.R201Q
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145379762T>G,c.520T>G,p.F174V
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145379706G>A,c.464G>A,p.R155Q
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145317835G>A,c.344G>A,p.R115Q
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145317685C>T,c.194C>T,p.A65V
SH3RF2(NM_152550,SH3 domain containing ring finger 2,729aa) g.5:145317541A>G,c.50A>G,p.E17G
SH3RF1(NM_020870,SH3 domain containing ring finger 1,888aa) g.4:170077770C>G,c.454G>C,p.D152H
SH3RF1(NM_020870,SH3 domain containing ring finger 1,888aa) g.4:170043342C>T,c.1255G>A,p.A419T
SH3RF1(NM_020870,SH3 domain containing ring finger 1,888aa) g.4:170038932C>T,c.1519G>A,p.A507T
SH3RF1(NM_020870,SH3 domain containing ring finger 1,888aa) g.4:170038869C>T,c.1582G>A,p.V528M
SH3RF1(NM_020870,SH3 domain containing ring finger 1,888aa) g.4:170038691C>T,c.1760G>A,p.R587H
SH3RF1(NM_020870,SH3 domain containing ring finger 1,888aa) g.4:170037595del,c.1964del,p.655fs
SH3RF1(NM_020870,SH3 domain containing ring finger 1,888aa) g.4:170037572G>A,c.1987C>T,p.P663S
SH3RF1(NM_020870,SH3 domain containing ring finger 1,888aa) g.4:170028304T>C,c.2192A>G,p.K731R
SH3RF1(NM_020870,SH3 domain containing ring finger 1,888aa) g.4:170028151G>A,c.2345C>T,p.T782M
SH3RF1(NM_020870,SH3 domain containing ring finger 1,888aa) g.4:170028027C>G,c.2469G>C,p.L823F
SH3PXD2B(NM_001017995,SH3 and PX domains 2B,911aa) g.5:171849481G>A,c.95C>T,p.T32M
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