基因名 突变
SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) g.16:51171069C>T,c.3638G>A,p.R1213H
SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) g.16:51171055C>T,c.3652G>A,p.V1218M
SALL1(NM_001127892,sal-like 1 (Drosophila),1227aa) g.16:51171034C>T,c.3673G>A,p.V1225I
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234255548T>C,c.1208T>C,p.V403A
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234255547G>A,c.1207G>A,p.V403I
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234255507T>A,c.1167T>A,p.D389E
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234243649C>T,c.848C>T,p.T283M
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234243621C>T,c.820C>T,p.P274S
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234237235C>A,c.624C>A,p.H208Q
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234237189G>A,c.578G>A,p.R193Q
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234235800G>A,c.469G>A,p.A157T
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234229468C>T,c.374C>T,p.T125M
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234229395G>A,c.301G>A,p.A101T
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234229344C>T,c.250C>T,p.R84C
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234229320A>G,c.226A>G,p.I76V
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234227405G>A,c.145G>A,p.V49M
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234224752T>C,c.107T>C,p.I36T
SAG(NM_000541,S-antigen; retina and pineal gland (arrestin),405aa) g.2:234217866G>A,c.31G>A,p.E11K
SAGE1(NM_018666,sarcoma antigen 1,904aa) g.X:134994561A>G,c.2603A>G,p.K868R
SAGE1(NM_018666,sarcoma antigen 1,904aa) g.X:134994005T>C,c.2414T>C,p.L805S
SAGE1(NM_018666,sarcoma antigen 1,904aa) g.X:134993814T>G,c.2223T>G,p.N741K
SAGE1(NM_018666,sarcoma antigen 1,904aa) g.X:134992279T>G,c.1814T>G,p.F605C
SAGE1(NM_018666,sarcoma antigen 1,904aa) g.X:134990272G>A,c.1184G>A,p.R395H
SAGE1(NM_018666,sarcoma antigen 1,904aa) g.X:134990000C>T,c.1159C>T,p.H387Y
SAGE1(NM_018666,sarcoma antigen 1,904aa) g.X:134989946G>A,c.1105G>A,p.G369R
SAGE1(NM_018666,sarcoma antigen 1,904aa) g.X:134989589C>T,c.995C>T,p.P332L
SAGE1(NM_018666,sarcoma antigen 1,904aa) g.X:134989150A>T,c.802A>T,p.I268F
SAGE1(NM_018666,sarcoma antigen 1,904aa) g.X:134989130G>A,c.782G>A,p.G261D
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