| 基因名 | 突变 |
|---|---|
| PHF21B(NM_138415,PHD finger protein 21B,531aa) | g.22:45312345C>T,c.379G>A,p.G127S |
| PHF21B(NM_138415,PHD finger protein 21B,531aa) | g.22:45312306C>T,c.418G>A,p.A140T |
| PHF21B(NM_138415,PHD finger protein 21B,531aa) | g.22:45291957C>T,c.838G>A,p.A280T |
| PHF21B(NM_138415,PHD finger protein 21B,531aa) | g.22:45291948C>T,c.847G>A,p.V283I |
| PHF21B(NM_138415,PHD finger protein 21B,531aa) | g.22:45283971C>T,c.1069G>A,p.A357T |
| PHF21B(NM_138415,PHD finger protein 21B,531aa) | g.22:45281325C>T,c.1358G>A,p.R453Q |
| PHF21B(NM_138415,PHD finger protein 21B,531aa) | g.22:45279003G>A,c.1559C>T,p.T520I |
| PHF21A(NM_001101802,PHD finger protein 21A,680aa) | g.11:45987000C>T,c.859G>A,p.V287I |
| PHF21A(NM_001101802,PHD finger protein 21A,680aa) | g.11:45975130C>T,c.1040G>A,p.R347H |
| PHF21A(NM_001101802,PHD finger protein 21A,680aa) | g.11:45967492A>G,c.1348T>C,p.S450P |
| PHF21A(NM_001101802,PHD finger protein 21A,680aa) | g.11:45955628T>C,c.1934A>G,p.N645S |
| PHF21A(NM_001101802,PHD finger protein 21A,680aa) | g.11:45955605C>T,c.1957G>A,p.A653T |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34528813C>A,c.2740C>A,p.L914I |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34526962C>T,c.2644C>T,p.R882C |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34526960C>T,c.2642C>T,p.P881L |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34526801G>A,c.2483G>A,p.R828H |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34526668C>G,c.2350C>G,p.H784D |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34505413T>G,c.1833T>G,p.D611E |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34502107G>A,c.1813G>A,p.V605M |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34487325G>T,c.1316G>T,p.G439V |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34459706C>T,c.1237C>T,p.P413S |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34459679A>G,c.1210A>G,p.M404V |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34451106G>A,c.592G>A,p.G198R |
| PHF20(NM_016436,PHD finger protein 20,1012aa) | g.20:34430526G>A,c.115G>A,p.E39K |
| PHF20L1(NM_016018,PHD finger protein 20-like 1,1017aa) | g.8:133844543G>A,c.1808G>A,p.R603Q |
| PHF20L1(NM_016018,PHD finger protein 20-like 1,1017aa) | g.8:133829692G>A,c.1481G>A,p.R494H |
| PHF20L1(NM_016018,PHD finger protein 20-like 1,1017aa) | g.8:133826943A>G,c.992A>G,p.N331S |
| PHF20L1(NM_016018,PHD finger protein 20-like 1,1017aa) | g.8:133816235G>A,c.679G>A,p.V227I |