| 基因名 | 突变 |
|---|---|
| PHKA2(NM_000292,phosphorylase kinase, alpha 2 (liver),1235aa) | g.X:18917301G>A,c.3101C>T,p.S1034F |
| PHKA1(NM_002637,phosphorylase kinase, alpha 1 (muscle),1223aa) | g.X:71904407C>T,c.478G>A,p.D160N |
| PHKA1(NM_002637,phosphorylase kinase, alpha 1 (muscle),1223aa) | g.X:71830942C>T,c.2462G>A,p.R821H |
| PHKA1(NM_002637,phosphorylase kinase, alpha 1 (muscle),1223aa) | g.X:71813054T>C,c.3143A>G,p.D1048G |
| PHKA1(NM_002637,phosphorylase kinase, alpha 1 (muscle),1223aa) | g.X:71801001T>C,c.3523A>G,p.M1175V |
| PHIP(NM_017934,pleckstrin homology domain interacting protein,1821aa) | g.6:79708000A>C,c.1988T>G,p.V663G |
| PHIP(NM_017934,pleckstrin homology domain interacting protein,1821aa) | g.6:79692751G>A,c.2621C>T,p.T874I |
| PHIP(NM_017934,pleckstrin homology domain interacting protein,1821aa) | g.6:79675701A>G,c.3278T>C,p.L1093P |
| PHIP(NM_017934,pleckstrin homology domain interacting protein,1821aa) | g.6:79672862C>T,c.3487G>A,p.E1163K |
| PHIP(NM_017934,pleckstrin homology domain interacting protein,1821aa) | g.6:79657450C>T,c.4096G>A,p.V1366I |
| PHGR1(NM_001145643,proline/histidine/glycine-rich 1,82aa) | g.15:40648412C>T,c.157C>T,p.P53S |
| PHGR1(NM_001145643,proline/histidine/glycine-rich 1,82aa) | g.15:40648397G>C,c.142G>C,p.G48R |
| PHGR1(NM_001145643,proline/histidine/glycine-rich 1,82aa) | g.15:40648385G>A,c.130G>A,p.G44R |
| PHGDH(NM_006623,phosphoglycerate dehydrogenase,533aa) | g.1:120286620C>A,c.1559C>A,p.A520E |
| PHGDH(NM_006623,phosphoglycerate dehydrogenase,533aa) | g.1:120285626G>A,c.1406G>A,p.R469Q |
| PHGDH(NM_006623,phosphoglycerate dehydrogenase,533aa) | g.1:120284428G>T,c.1117G>T,p.A373S |
| PHGDH(NM_006623,phosphoglycerate dehydrogenase,533aa) | g.1:120279881A>T,c.937A>T,p.T313S |
| PHGDH(NM_006623,phosphoglycerate dehydrogenase,533aa) | g.1:120279854G>A,c.910G>A,p.V304M |
| PHGDH(NM_006623,phosphoglycerate dehydrogenase,533aa) | g.1:120278017C>T,c.743C>T,p.A248V |
| PHGDH(NM_006623,phosphoglycerate dehydrogenase,533aa) | g.1:120277956G>T,c.682G>T,p.G228W |
| PHGDH(NM_006623,phosphoglycerate dehydrogenase,533aa) | g.1:120277341C>G,c.595C>G,p.L199V |
| PHGDH(NM_006623,phosphoglycerate dehydrogenase,533aa) | g.1:120263880G>T,c.226G>T,p.A76S |
| PHF8(NM_015107,PHD finger protein 8,1024aa) | g.X:54048766A>T,c.219T>A,p.D73E |
| PHF8(NM_015107,PHD finger protein 8,1024aa) | g.X:53966879C>T,c.2720G>A,p.R907H |
| PHF7(NM_016483,PHD finger protein 7,381aa) | g.3:52457310A>C,c.1123A>C,p.N375H |
| PHF7(NM_016483,PHD finger protein 7,381aa) | g.3:52457263G>A,c.1076G>A,p.R359H |
| PHF7(NM_016483,PHD finger protein 7,381aa) | g.3:52448038C>G,c.68C>G,p.T23S |
| PHF3(NM_015153,PHD finger protein 3,2039aa) | g.6:64422984C>T,c.5500C>T,p.H1834Y |