| 基因名 | 突变 |
|---|---|
| MPZL2(NM_005797,myelin protein zero-like 2,215aa) | g.11:118133308C>T,c.281G>A,p.R94Q |
| MPZL2(NM_005797,myelin protein zero-like 2,215aa) | g.11:118133258A>G,c.331T>C,p.W111R |
| MPZL2(NM_005797,myelin protein zero-like 2,215aa) | g.11:118133174G>A,c.415C>T,p.R139W |
| MPZL2(NM_005797,myelin protein zero-like 2,215aa) | g.11:118133173C>T,c.416G>A,p.R139Q |
| MPZL2(NM_005797,myelin protein zero-like 2,215aa) | g.11:118130916A>G,c.437T>C,p.V146A |
| MPZL2(NM_005797,myelin protein zero-like 2,215aa) | g.11:118130809G>A,c.544C>T,p.R182X |
| MPZL1(NM_003953,myelin protein zero-like 1,269aa) | g.1:167757139C>T,c.791C>T,p.A264V |
| MPV17(NM_002437,MpV17 mitochondrial inner membrane protein,176aa) | g.2:27545324G>C,c.61C>G,p.L21V |
| MPV17(NM_002437,MpV17 mitochondrial inner membrane protein,176aa) | g.2:27535086T>C,c.404A>G,p.Y135C |
| MPV17L2(NM_032683,MPV17 mitochondrial membrane protein-like 2,206aa) | g.19:18305801G>T,c.469G>T,p.V157L |
| MPV17L2(NM_032683,MPV17 mitochondrial membrane protein-like 2,206aa) | g.19:18304731C>T,c.245C>T,p.S82L |
| MPV17L2(NM_032683,MPV17 mitochondrial membrane protein-like 2,206aa) | g.19:18304700A>G,c.214A>G,p.M72V |
| MPV17L2(NM_032683,MPV17 mitochondrial membrane protein-like 2,206aa) | g.19:18304123G>A,c.32G>A,p.R11H |
| MPST(NM_001130517,mercaptopyruvate sulfurtransferase,297aa) | g.22:37425508G>A,c.847G>A,p.A283T |
| MPST(NM_001130517,mercaptopyruvate sulfurtransferase,297aa) | g.22:37420713G>A,c.457G>A,p.E153K |
| MPST(NM_001130517,mercaptopyruvate sulfurtransferase,297aa) | g.22:37420423G>T,c.167G>T,p.G56V |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17076120G>A,c.2420G>A,p.R807H |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17075181del,c.2311+2del,p.771Donordel |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17064600G>A,c.2093G>A,p.R698Q |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17062289C>G,c.2019C>G,p.H673Q |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17062065C>G,c.1795C>G,p.L599V |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17062053C>T,c.1783C>T,p.R595C |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17062002C>T,c.1732C>T,p.P578S |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17061916G>A,c.1646G>A,p.R549H |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17050673G>A,c.1247G>A,p.R416K |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17046967C>T,c.1133C>T,p.T378M |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17046024C>A,c.980C>A,p.P327Q |
| MPRIP(NM_201274,myosin phosphatase Rho interacting protein,1025aa) | g.17:17039562_17039564del,c.534_536del,p.178_179del |