| 基因名 | 突变 |
|---|---|
| SETD8(NM_020382,SET domain containing (lysine methyltransferase) 8,352aa) | g.12:123889486G>C,c.713G>C,p.R238P |
| SETD8(NM_020382,SET domain containing (lysine methyltransferase) 8,352aa) | g.12:123879707G>C,c.403G>C,p.A135P |
| SETD8(NM_020382,SET domain containing (lysine methyltransferase) 8,352aa) | g.12:123879668G>C,c.364G>C,p.G122R |
| SETD8(NM_020382,SET domain containing (lysine methyltransferase) 8,352aa) | g.12:123879666A>G,c.362A>G,p.K121R |
| SETD8(NM_020382,SET domain containing (lysine methyltransferase) 8,352aa) | g.12:123875330G>A,c.286G>A,p.E96K |
| SETD8(NM_020382,SET domain containing (lysine methyltransferase) 8,352aa) | g.12:123874000C>T,c.31C>T,p.R11C |
| SETD7(NM_030648,SET domain containing (lysine methyltransferase) 7,366aa) | g.4:140444512C>T,c.640G>A,p.E214K |
| SETD7(NM_030648,SET domain containing (lysine methyltransferase) 7,366aa) | g.4:140439117T>C,c.842A>G,p.Y281C |
| SETD6(NM_001160305,SET domain containing 6,473aa) | g.16:58552845C>T,c.1334C>T,p.A445V |
| SETD6(NM_001160305,SET domain containing 6,473aa) | g.16:58552671A>G,c.1160A>G,p.Q387R |
| SETD6(NM_001160305,SET domain containing 6,473aa) | g.16:58552315_58552316del,c.984_985del,p.328fs |
| SETD6(NM_001160305,SET domain containing 6,473aa) | g.16:58552045C>G,c.883C>G,p.H295D |
| SETD6(NM_001160305,SET domain containing 6,473aa) | g.16:58550780C>G,c.740C>G,p.A247G |
| SETD6(NM_001160305,SET domain containing 6,473aa) | g.16:58549984G>A,c.317G>A,p.G106D |
| SETD6(NM_001160305,SET domain containing 6,473aa) | g.16:58549792A>G,c.125A>G,p.E42G |
| SETD5(NM_001080517,SET domain containing 5,1442aa) | g.3:9517606G>A,c.4160G>A,p.R1387Q |
| SETD5(NM_001080517,SET domain containing 5,1442aa) | g.3:9517561C>T,c.4115C>T,p.T1372I |
| SETD5(NM_001080517,SET domain containing 5,1442aa) | g.3:9517444G>A,c.3998G>A,p.S1333N |
| SETD5(NM_001080517,SET domain containing 5,1442aa) | g.3:9517387T>C,c.3941T>C,p.F1314S |
| SETD5(NM_001080517,SET domain containing 5,1442aa) | g.3:9517369C>T,c.3923C>T,p.T1308I |
| SETD5(NM_001080517,SET domain containing 5,1442aa) | g.3:9516183A>G,c.3548A>G,p.K1183R |
| SETD5(NM_001080517,SET domain containing 5,1442aa) | g.3:9515062A>G,c.3338A>G,p.H1113R |
| SETD5(NM_001080517,SET domain containing 5,1442aa) | g.3:9512345C>G,c.2927C>G,p.A976G |
| SETD5(NM_001080517,SET domain containing 5,1442aa) | g.3:9506285T>C,c.2653T>C,p.Y885H |
| SETD5(NM_001080517,SET domain containing 5,1442aa) | g.3:9489593G>C,c.2006G>C,p.G669A |
| SETD4(NM_017438,SET domain containing 4,440aa) | g.21:37417981C>T,c.625G>A,p.V209M |
| SETD4(NM_017438,SET domain containing 4,440aa) | g.21:37416208G>A,c.773C>T,p.T258M |
| SETD4(NM_017438,SET domain containing 4,440aa) | g.21:37416145C>T,c.836G>A,p.R279Q |