| 基因名 | 突变 |
|---|---|
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201407372G>A,c.458G>A,p.R153H |
| SGOL2(NM_152524,shugoshin-like 2 (S. pombe),1265aa) | g.2:201397724G>A,c.26G>A,p.G9D |
| SGOL1(NM_001199251,shugoshin-like 1 (S. pombe),527aa) | g.3:20225453T>C,c.67A>G,p.K23E |
| SGOL1(NM_001199251,shugoshin-like 1 (S. pombe),527aa) | g.3:20225414G>A,c.106C>T,p.R36C |
| SGOL1(NM_001199251,shugoshin-like 1 (S. pombe),527aa) | g.3:20216484G>A,c.539C>T,p.S180F |
| SGOL1(NM_001199251,shugoshin-like 1 (S. pombe),527aa) | g.3:20216443T>C,c.580A>G,p.S194G |
| SGOL1(NM_001199251,shugoshin-like 1 (S. pombe),527aa) | g.3:20216374C>A,c.649G>T,p.A217S |
| SGOL1(NM_001199251,shugoshin-like 1 (S. pombe),527aa) | g.3:20216337del,c.686del,p.229fs |
| SGOL1(NM_001199251,shugoshin-like 1 (S. pombe),527aa) | g.3:20216058T>G,c.965A>C,p.Q322P |
| SGOL1(NM_001199251,shugoshin-like 1 (S. pombe),527aa) | g.3:20212547G>T,c.1460C>A,p.P487H |
| SGOL1(NM_001199251,shugoshin-like 1 (S. pombe),527aa) | g.3:20212227C>T,c.1553G>A,p.R518H |
| SGMS2(NM_152621,sphingomyelin synthase 2,365aa) | g.4:108829849C>T,c.856C>T,p.R286X |
| SGMS2(NM_152621,sphingomyelin synthase 2,365aa) | g.4:108829730G>A,c.737G>A,p.R246H |
| SGMS2(NM_152621,sphingomyelin synthase 2,365aa) | g.4:108824510C>T,c.695C>T,p.T232M |
| SGMS1(NM_147156,sphingomyelin synthase 1,413aa) | g.10:52103737T>G,c.138A>C,p.K46N |
| SGK2(NM_016276,serum/glucocorticoid regulated kinase 2,427aa) | g.20:42200700G>T,c.700G>T,p.V234L |
| SGK2(NM_016276,serum/glucocorticoid regulated kinase 2,427aa) | g.20:42196324G>A,c.286G>A,p.D96N |
| SGK2(NM_016276,serum/glucocorticoid regulated kinase 2,427aa) | g.20:42196316C>T,c.278C>T,p.T93M |
| SGK2(NM_016276,serum/glucocorticoid regulated kinase 2,427aa) | g.20:42194989T>A,c.34T>A,p.S12T |
| SGK1(NM_001143676,serum/glucocorticoid regulated kinase 1,526aa) | g.6:134583262T>C,c.94A>G,p.M32V |
| SGK1(NM_001143676,serum/glucocorticoid regulated kinase 1,526aa) | g.6:134583213G>A,c.143C>T,p.S48F |
| SGK1(NM_001143676,serum/glucocorticoid regulated kinase 1,526aa) | g.6:134583160G>C,c.196C>G,p.Q66E |
| SGK1(NM_001143676,serum/glucocorticoid regulated kinase 1,526aa) | g.6:134583141T>C,c.215A>G,p.H72R |
| SGK1(NM_001143676,serum/glucocorticoid regulated kinase 1,526aa) | g.6:134491422G>A,c.1565C>T,p.T522M |
| SGIP1(NM_032291,SH3-domain GRB2-like (endophilin) interacting protein 1,828aa) | g.1:67206364T>C,c.2258T>C,p.L753S |
| SGIP1(NM_032291,SH3-domain GRB2-like (endophilin) interacting protein 1,828aa) | g.1:67205121A>T,c.2135A>T,p.D712V |
| SGIP1(NM_032291,SH3-domain GRB2-like (endophilin) interacting protein 1,828aa) | g.1:67155874C>G,c.1445C>G,p.S482C |
| SGIP1(NM_032291,SH3-domain GRB2-like (endophilin) interacting protein 1,828aa) | g.1:67147839C>T,c.1102C>T,p.R368C |