基因名 突变
SMAP1(NM_001281439,small ArfGAP 1,436aa) g.6:71569066_71569067insCAT,c.1223_1224insCAT,p.408ins1aa
SMAP1(NM_001281439,small ArfGAP 1,436aa) g.6:71567717G>C,c.973G>C,p.A325P
SMAP1(NM_001281439,small ArfGAP 1,436aa) g.6:71567702G>A,c.958G>A,p.V320M
SMAP1(NM_001281439,small ArfGAP 1,436aa) g.6:71546702C>T,c.554C>T,p.A185V
SMAP1(NM_001281439,small ArfGAP 1,436aa) g.6:71508379A>G,c.434A>G,p.K145R
SMAP1(NM_001281439,small ArfGAP 1,436aa) g.6:71377781C>A,c.55C>A,p.L19I
SMAGP(NM_001031628,small cell adhesion glycoprotein,97aa) g.12:51640611_51640613del,c.37_39del,p.13del
SMAGP(NM_001031628,small cell adhesion glycoprotein,97aa) g.12:51639784T>C,c.235A>G,p.I79V
SMAGP(NM_001031628,small cell adhesion glycoprotein,97aa) g.12:51639768C>A,c.251G>T,p.S84I
SMAD9(NM_001127217,SMAD family member 9,467aa) g.13:37453610G>A,c.217C>T,p.R73C
SMAD9(NM_001127217,SMAD family member 9,467aa) g.13:37447031G>T,c.434C>A,p.P145Q
SMAD9(NM_001127217,SMAD family member 9,467aa) g.13:37446983C>T,c.482G>A,p.R161H
SMAD9(NM_001127217,SMAD family member 9,467aa) g.13:37446866G>C,c.599C>G,p.S200C
SMAD9(NM_001127217,SMAD family member 9,467aa) g.13:37441448G>T,c.743C>A,p.T248K
SMAD9(NM_001127217,SMAD family member 9,467aa) g.13:37439889C>T,c.788G>A,p.R263Q
SMAD9(NM_001127217,SMAD family member 9,467aa) g.13:37439785T>C,c.892A>G,p.I298V
SMAD9(NM_001127217,SMAD family member 9,467aa) g.13:37427805G>C,c.1011C>G,p.H337Q
SMAD7(NM_005904,SMAD family member 7,426aa) g.18:46476680C>T,c.115G>A,p.G39R
SMAD7(NM_005904,SMAD family member 7,426aa) g.18:46474757T>C,c.664A>G,p.T222A
SMAD7(NM_005904,SMAD family member 7,426aa) g.18:46468896C>T,c.697G>A,p.A233T
SMAD7(NM_005904,SMAD family member 7,426aa) g.18:46448211G>A,c.812C>T,p.T271M
SMAD6(NM_005585,SMAD family member 6,496aa) g.15:67073679G>A,c.1297G>A,p.G433S
SMAD6(NM_005585,SMAD family member 6,496aa) g.15:67073638C>T,c.1256C>T,p.A419V
SMAD6(NM_005585,SMAD family member 6,496aa) g.15:67004029C>G,c.841C>G,p.R281G
SMAD6(NM_005585,SMAD family member 6,496aa) g.15:66995958G>A,c.362G>A,p.C121Y
SMAD6(NM_005585,SMAD family member 6,496aa) g.15:66995820G>A,c.224G>A,p.R75Q
SMAD6(NM_005585,SMAD family member 6,496aa) g.15:66995657G>A,c.61G>A,p.D21N
SMAD4(NM_005359,SMAD family member 4,552aa) g.18:48604773del,c.1595del,p.532fs
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