基因名 突变
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87684200G>A,c.3874G>A,p.E1292K
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87684148G>T,c.3822G>T,p.W1274C
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87684111A>G,c.3785A>G,p.N1262S
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87683889C>T,c.3563C>T,p.T1188I
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87674183G>A,c.3188G>A,p.G1063E
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87674174A>G,c.3179A>G,p.H1060R
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87672235G>T,c.3124G>T,p.D1042Y
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87671916C>T,c.2944C>T,p.R982W
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87666225A>G,c.2594A>G,p.H865R
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87653856G>T,c.1795G>T,p.D599Y
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87653802G>A,c.1741G>A,p.G581R
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87653616C>T,c.1672C>T,p.R558W
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87643531A>G,c.1552A>G,p.R518G
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87643478G>C,c.1499G>C,p.R500P
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87643398A>T,c.1419A>T,p.L473F
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87638230G>T,c.1345G>T,p.V449L
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87622856G>A,c.1097G>A,p.R366Q
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87622808C>G,c.1049C>G,p.A350G
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87622802G>C,c.1043G>C,p.S348T
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87622724G>A,c.965G>A,p.R322H
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87622624G>A,c.865G>A,p.G289S
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87622465G>A,c.706G>A,p.G236R
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87614795G>A,c.602G>A,p.R201Q
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87593550A>G,c.148A>G,p.I50V
PTPN13(NM_080685,protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase),2490aa) g.4:87556416G>A,c.7G>A,p.V3M
PTPN12(NM_002835,protein tyrosine phosphatase, non-receptor type 12,780aa) g.7:77265144G>A,c.2120G>A,p.R707Q
PTPN12(NM_002835,protein tyrosine phosphatase, non-receptor type 12,780aa) g.7:77265140G>A,c.2116G>A,p.E706K
PTPN12(NM_002835,protein tyrosine phosphatase, non-receptor type 12,780aa) g.7:77261719C>T,c.2051C>T,p.S684L
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