| 基因名 | 突变 |
|---|---|
| PPFIA1(NM_003626,protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1,1202aa) | g.11:70118372G>A,c.94G>A,p.A32T |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76813090A>C,c.97T>G,p.Y33D |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76813080C>T,c.107G>A,p.R36H |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76813062C>T,c.125G>A,p.R42H |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76811175G>T,c.352C>A,p.R118S |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76809463C>T,c.436G>A,p.V146I |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76809396G>A,c.503C>T,p.T168I |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76805745A>G,c.746+2T>C,p.249Donor |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76804137T>C,c.875A>G,p.H292R |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76797756T>C,c.1004A>G,p.N335S |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76797597C>T,c.1163G>A,p.R388Q |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76797580C>G,c.1180G>C,p.V394L |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76797526C>T,c.1234G>A,p.E412K |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76794345T>G,c.1441A>C,p.M481L |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76788564C>T,c.1658G>A,p.R553K |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76788541C>T,c.1681G>A,p.A561T |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76788499T>A,c.1723A>T,p.S575C |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76787475G>A,c.1787C>T,p.A596V |
| PPEF2(NM_006239,protein phosphatase, EF-hand calcium binding domain 2,753aa) | g.4:76782056C>T,c.2026G>A,p.E676K |
| PPEF1(NM_006240,protein phosphatase, EF-hand calcium binding domain 1,653aa) | g.X:18845519A>G,c.1876A>G,p.I626V |
| PPEF1(NM_006240,protein phosphatase, EF-hand calcium binding domain 1,653aa) | g.X:18842182G>A,c.1643G>A,p.R548H |
| PPEF1(NM_006240,protein phosphatase, EF-hand calcium binding domain 1,653aa) | g.X:18824596G>A,c.1327G>A,p.G443S |
| PPEF1(NM_006240,protein phosphatase, EF-hand calcium binding domain 1,653aa) | g.X:18802071A>G,c.817A>G,p.I273V |
| PPCS(NM_024664,phosphopantothenoylcysteine synthetase,311aa) | g.1:42925526G>A,c.865G>A,p.V289I |
| PPCS(NM_024664,phosphopantothenoylcysteine synthetase,311aa) | g.1:42922564C>T,c.328C>T,p.P110S |
| PPCDC(NM_021823,phosphopantothenoylcysteine decarboxylase,204aa) | g.15:75341523G>A,c.562G>A,p.V188M |
| PPCDC(NM_021823,phosphopantothenoylcysteine decarboxylase,204aa) | g.15:75340919G>A,c.386G>A,p.R129H |
| PPCDC(NM_021823,phosphopantothenoylcysteine decarboxylase,204aa) | g.15:75336760A>G,c.265A>G,p.I89V |