| 基因名 | 突变 |
|---|---|
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133901944C>T,c.1108C>T,p.R370C |
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133901939G>T,c.1103G>T,p.G368V |
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133901860G>A,c.1024G>A,p.G342S |
| PHF15(NM_015288,PHD finger protein 15,790aa) | g.5:133895561C>T,c.353C>T,p.P118L |
| PHF14(NM_014660,PHD finger protein 14,888aa) | g.7:11022560C>G,c.674C>G,p.S225C |
| PHF14(NM_014660,PHD finger protein 14,888aa) | g.7:11022230A>G,c.344A>G,p.K115R |
| PHF13(NM_153812,PHD finger protein 13,300aa) | g.1:6680083A>G,c.362A>G,p.K121R |
| PHF13(NM_153812,PHD finger protein 13,300aa) | g.1:6676902T>G,c.125T>G,p.I42S |
| PHF12(NM_001033561,PHD finger protein 12,1004aa) | g.17:27248751T>C,c.791A>G,p.N264S |
| PHF12(NM_001033561,PHD finger protein 12,1004aa) | g.17:27240970T>C,c.1220A>G,p.N407S |
| PHF12(NM_001033561,PHD finger protein 12,1004aa) | g.17:27240924G>C,c.1266C>G,p.H422Q |
| PHF12(NM_001033561,PHD finger protein 12,1004aa) | g.17:27239701T>G,c.1888A>C,p.S630R |
| PHF12(NM_001033561,PHD finger protein 12,1004aa) | g.17:27238135T>C,c.2210A>G,p.N737S |
| PHF12(NM_001033561,PHD finger protein 12,1004aa) | g.17:27233340T>C,c.2876A>G,p.Q959R |
| PHF11(NM_001040443,PHD finger protein 11,331aa) | g.13:50097317G>A,c.577G>A,p.E193K |
| PHF10(NM_018288,PHD finger protein 10,498aa) | g.6:170110361C>T,c.1084G>A,p.V362I |
| PHF10(NM_018288,PHD finger protein 10,498aa) | g.6:170105737T>C,c.1197A>G,p.I399M |
| PHF10(NM_018288,PHD finger protein 10,498aa) | g.6:170104181C>T,c.1415G>A,p.R472H |
| PHEX(NM_000444,phosphate regulating endopeptidase homolog, X-linked,749aa) | g.X:22051133G>C,c.10G>C,p.E4Q |
| PHC3(NM_024947,polyhomeotic homolog 3 (Drosophila),995aa) | g.3:169846735T>C,c.1525A>G,p.I509V |
| PHC3(NM_024947,polyhomeotic homolog 3 (Drosophila),995aa) | g.3:169846663T>C,c.1597A>G,p.M533V |
| PHC3(NM_024947,polyhomeotic homolog 3 (Drosophila),995aa) | g.3:169840427T>C,c.1894A>G,p.I632V |
| PHC3(NM_024947,polyhomeotic homolog 3 (Drosophila),995aa) | g.3:169835124T>C,c.2083A>G,p.S695G |
| PHC3(NM_024947,polyhomeotic homolog 3 (Drosophila),995aa) | g.3:169831270T>A,c.2231A>T,p.K744I |
| PHC3(NM_024947,polyhomeotic homolog 3 (Drosophila),995aa) | g.3:169831268T>C,c.2233A>G,p.K745E |
| PHC3(NM_024947,polyhomeotic homolog 3 (Drosophila),995aa) | g.3:169820645C>T,c.2546G>A,p.R849H |
| PHC2(NM_198040,polyhomeotic homolog 2 (Drosophila),858aa) | g.1:33841025C>T,c.116G>A,p.R39H |
| PHC2(NM_198040,polyhomeotic homolog 2 (Drosophila),858aa) | g.1:33837982C>T,c.241G>A,p.A81T |