| 基因名 | 突变 |
|---|---|
| PHF20L1(NM_016018,PHD finger protein 20-like 1,1017aa) | g.8:133811393C>T,c.482C>T,p.S161L |
| PHF1(NM_024165,PHD finger protein 1,567aa) | g.6:33383606A>G,c.1435A>G,p.I479V |
| PHF1(NM_024165,PHD finger protein 1,567aa) | g.6:33382902A>G,c.1220A>G,p.H407R |
| PHF1(NM_024165,PHD finger protein 1,567aa) | g.6:33382863G>A,c.1181G>A,p.R394H |
| PHF1(NM_024165,PHD finger protein 1,567aa) | g.6:33382862C>T,c.1180C>T,p.R394C |
| PHF1(NM_024165,PHD finger protein 1,567aa) | g.6:33382818G>A,c.1136G>A,p.R379K |
| PHF1(NM_024165,PHD finger protein 1,567aa) | g.6:33382581C>G,c.1024C>G,p.P342A |
| PHF1(NM_024165,PHD finger protein 1,567aa) | g.6:33382288G>A,c.911G>A,p.R304K |
| PHF1(NM_024165,PHD finger protein 1,567aa) | g.6:33380066G>A,c.26G>A,p.R9H |
| PHF19(NM_015651,PHD finger protein 19,580aa) | g.9:123620470G>A,c.1495C>T,p.P499S |
| PHF17(NM_199320,PHD finger protein 17,842aa) | g.4:129793277G>A,c.2389G>A,p.D797N |
| PHF17(NM_199320,PHD finger protein 17,842aa) | g.4:129793242C>T,c.2354C>T,p.P785L |
| PHF17(NM_199320,PHD finger protein 17,842aa) | g.4:129792873A>G,c.1985A>G,p.N662S |
| PHF17(NM_199320,PHD finger protein 17,842aa) | g.4:129792810G>A,c.1922G>A,p.R641H |
| PHF17(NM_199320,PHD finger protein 17,842aa) | g.4:129792588C>T,c.1700C>T,p.P567L |
| PHF17(NM_199320,PHD finger protein 17,842aa) | g.4:129789121A>T,c.1614A>T,p.R538S |
| PHF17(NM_199320,PHD finger protein 17,842aa) | g.4:129770150G>T,c.312G>T,p.E104D |
| PHF17(NM_199320,PHD finger protein 17,842aa) | g.4:129767579A>G,c.188A>G,p.Q63R |
| PHF16(NM_014735,PHD finger protein 16,823aa) | g.X:46918243T>C,c.2236T>C,p.F746L |
| PHF16(NM_014735,PHD finger protein 16,823aa) | g.X:46915586C>G,c.1546C>G,p.Q516E |
| PHF16(NM_014735,PHD finger protein 16,823aa) | g.X:46884166C>A,c.325C>A,p.P109T |
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133914984C>T,c.2350C>T,p.R784C |
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133914948C>G,c.2314C>G,p.R772G |
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133914787G>A,c.2153G>A,p.R718Q |
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133914651C>T,c.2017C>T,p.P673S |
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133914618G>A,c.1984G>A,p.G662R |
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133914474G>A,c.1840G>A,p.G614R |
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133914417C>G,c.1783C>G,p.R595G |