| 基因名 | 突变 |
|---|---|
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30975586A>G,c.811A>G,p.T271A |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30975493G>A,c.718G>A,p.G240S |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30974856C>T,c.620C>T,p.S207L |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42643270G>T,c.4398G>T,p.E1466D |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42618609C>T,c.4160C>T,p.T1387M |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42618578G>C,c.4129G>C,p.V1377L |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42618545G>A,c.4096G>A,p.A1366T |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42618483C>G,c.4034C>G,p.T1345R |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42533084C>T,c.3779C>T,p.T1260M |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42532898C>T,c.3593C>T,p.P1198L |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42532693C>A,c.3388C>A,p.P1130T |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42532606G>A,c.3301G>A,p.V1101I |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42532604A>G,c.3299A>G,p.H1100R |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42532538C>T,c.3233C>T,p.T1078M |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42532504G>A,c.3199G>A,p.G1067S |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42531367G>A,c.2062G>A,p.V688I |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42531184C>T,c.1879C>T,p.R627C |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42531133G>A,c.1828G>A,p.V610I |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42530795C>T,c.1490C>T,p.P497L |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42530684A>G,c.1379A>G,p.K460R |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42530582C>T,c.1277C>T,p.A426V |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42530062G>A,c.757G>A,p.A253T |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42529996G>C,c.691G>C,p.V231L |
| SETBP1(NM_015559,SET binding protein 1,1596aa) | g.18:42281472G>A,c.161G>A,p.R54H |
| SESTD1(NM_178123,SEC14 and spectrin domains 1,696aa) | g.2:180056547G>T,c.22C>A,p.P8T |
| SESTD1(NM_178123,SEC14 and spectrin domains 1,696aa) | g.2:180014052C>T,c.553G>A,p.D185N |
| SESTD1(NM_178123,SEC14 and spectrin domains 1,696aa) | g.2:179988465A>G,c.1259T>C,p.L420P |
| SESTD1(NM_178123,SEC14 and spectrin domains 1,696aa) | g.2:179979910C>T,c.1721G>A,p.R574Q |