| 基因名 | 突变 |
|---|---|
| PPOX(NM_001122764,protoporphyrinogen oxidase,477aa) | g.1:161139738G>A,c.911G>A,p.R304H |
| PPOX(NM_001122764,protoporphyrinogen oxidase,477aa) | g.1:161138933C>G,c.767C>G,p.P256R |
| PPME1(NM_001271593,protein phosphatase methylesterase 1,400aa) | g.11:73950180G>C,c.713G>C,p.C238S |
| PPME1(NM_001271593,protein phosphatase methylesterase 1,400aa) | g.11:73915417G>A,c.215G>A,p.S72N |
| PPME1(NM_001271593,protein phosphatase methylesterase 1,400aa) | g.11:73882500C>T,c.34C>T,p.R12C |
| PPM1N(NM_001080401,protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative),430aa) | g.19:46003246C>T,c.979C>T,p.P327S |
| PPM1N(NM_001080401,protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative),430aa) | g.19:46002583C>A,c.853C>A,p.L285M |
| PPM1N(NM_001080401,protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative),430aa) | g.19:46002446A>C,c.716A>C,p.K239T |
| PPM1N(NM_001080401,protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative),430aa) | g.19:46002245C>T,c.515C>T,p.P172L |
| PPM1N(NM_001080401,protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative),430aa) | g.19:46002007C>T,c.277C>T,p.P93S |
| PPM1M(NM_144641,protein phosphatase, Mg2+/Mn2+ dependent, 1M,459aa) | g.3:52283798C>T,c.1348C>T,p.H450Y |
| PPM1M(NM_144641,protein phosphatase, Mg2+/Mn2+ dependent, 1M,459aa) | g.3:52283774G>A,c.1324G>A,p.V442I |
| PPM1M(NM_144641,protein phosphatase, Mg2+/Mn2+ dependent, 1M,459aa) | g.3:52282458C>G,c.903C>G,p.H301Q |
| PPM1M(NM_144641,protein phosphatase, Mg2+/Mn2+ dependent, 1M,459aa) | g.3:52281195G>A,c.548G>A,p.R183K |
| PPM1K(NM_152542,protein phosphatase, Mg2+/Mn2+ dependent, 1K,372aa) | g.4:89199638C>T,c.98G>A,p.R33Q |
| PPM1K(NM_152542,protein phosphatase, Mg2+/Mn2+ dependent, 1K,372aa) | g.4:89199528G>A,c.208C>T,p.R70C |
| PPM1K(NM_152542,protein phosphatase, Mg2+/Mn2+ dependent, 1K,372aa) | g.4:89199384C>G,c.352G>C,p.D118H |
| PPM1K(NM_152542,protein phosphatase, Mg2+/Mn2+ dependent, 1K,372aa) | g.4:89189930T>C,c.670A>G,p.I224V |
| PPM1K(NM_152542,protein phosphatase, Mg2+/Mn2+ dependent, 1K,372aa) | g.4:89186166G>A,c.974C>T,p.A325V |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113257762G>T,c.162C>A,p.S54R |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113255655T>G,c.442-2A>C,p.148Acceptor |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113255456C>A,c.639G>T,p.L213F |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113255389C>T,c.706G>A,p.V236I |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113255031A>G,c.778T>C,p.C260R |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113254648A>G,c.872T>C,p.I291T |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113254613G>A,c.907C>T,p.R303C |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113254612C>T,c.908G>A,p.R303H |
| PPM1J(NM_005167,protein phosphatase, Mg2+/Mn2+ dependent, 1J,505aa) | g.1:113253948C>G,c.986G>C,p.R329T |