| 基因名 | 突变 |
|---|---|
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13150558A>C,c.3582T>G,p.S1194R |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13140144G>A,c.3845C>T,p.P1282L |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13140096G>A,c.3893C>T,p.P1298L |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13140094G>T,c.3895C>A,p.P1299T |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13140093G>C,c.3896C>G,p.P1299R |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13140093G>A,c.3896C>T,p.P1299L |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13140070C>T,c.3919G>A,p.E1307K |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13133878T>C,c.4409A>G,p.D1470G |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13123295T>C,c.4810A>G,p.T1604A |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13121768T>C,c.5201A>G,p.K1734R |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13119539G>T,c.5341C>A,p.R1781S |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13112024C>T,c.5636G>A,p.R1879K |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13110739C>A,c.5638G>T,p.V1880F |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13110699T>G,c.5678A>C,p.E1893A |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13110636T>A,c.5741A>T,p.Q1914L |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13108984C>A,c.5930G>T,p.G1977V |
| MPDZ(NM_003829,multiple PDZ domain protein,2041aa) | g.9:13107092C>T,c.5998G>A,p.G2000R |
| MPDU1(NM_004870,mannose-P-dolichol utilization defect 1,247aa) | g.17:7490810G>A,c.685G>A,p.A229T |
| MPDU1(NM_004870,mannose-P-dolichol utilization defect 1,247aa) | g.17:7490777G>T,c.652G>T,p.V218L |
| MPDU1(NM_004870,mannose-P-dolichol utilization defect 1,247aa) | g.17:7490231G>C,c.403G>C,p.A135P |
| MPDU1(NM_004870,mannose-P-dolichol utilization defect 1,247aa) | g.17:7490045C>T,c.338C>T,p.T113M |
| MPDU1(NM_004870,mannose-P-dolichol utilization defect 1,247aa) | g.17:7489394C>A,c.300C>A,p.F100L |
| MPDU1(NM_004870,mannose-P-dolichol utilization defect 1,247aa) | g.17:7489312G>A,c.218G>A,p.G73E |
| MPC2(NM_001143674,mitochondrial pyruvate carrier 2,127aa) | g.1:167905028C>T,c.52G>A,p.D18N |
| MPC2(NM_001143674,mitochondrial pyruvate carrier 2,127aa) | g.1:167905024T>C,c.56A>G,p.K19R |
| MPC1(NM_001270879,mitochondrial pyruvate carrier 1,66aa) | g.6:166779514C>T,c.124G>A,p.A42T |
| MPC1(NM_001270879,mitochondrial pyruvate carrier 1,66aa) | g.6:166779466G>A,c.172C>T,p.H58Y |
| MPC1L(NM_001195522,mitochondrial pyruvate carrier 1-like,136aa) | g.X:40482856T>G,c.39T>G,p.D13E |