| 基因名 | 突变 |
|---|---|
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:41010109T>C,c.3208A>G,p.I1070V |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:41010097T>A,c.3220A>T,p.I1074F |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:41008780A>G,c.3536T>C,p.L1179P |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:41008777G>A,c.3539C>T,p.T1180I |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:41005697A>T,c.3800T>A,p.L1267Q |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:41000446C>T,c.4358G>A,p.R1453H |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:41000383C>A,c.4421G>T,p.R1474L |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:40999870G>T,c.4494C>A,p.N1498K |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:40998779T>C,c.4586A>G,p.D1529G |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:40998774C>T,c.4591G>A,p.V1531I |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:40998245C>T,c.4667G>A,p.R1556H |
| MROH2B(NM_173489,maestro heat-like repeat family member 2B,1585aa) | g.5:40998236G>A,c.4676C>T,p.P1559L |
| MROH1(NM_032450,maestro heat-like repeat family member 1,1641aa) | g.8:145278084C>T,c.1289C>T,p.A430V |
| MROH1(NM_032450,maestro heat-like repeat family member 1,1641aa) | g.8:145246735G>A,c.832G>A,p.A278T |
| MROH1(NM_032450,maestro heat-like repeat family member 1,1641aa) | g.8:145246717G>A,c.814G>A,p.A272T |
| MROH1(NM_032450,maestro heat-like repeat family member 1,1641aa) | g.8:145235357G>A,c.493G>A,p.V165I |
| MROH1(NM_032450,maestro heat-like repeat family member 1,1641aa) | g.8:145235171C>T,c.391C>T,p.R131C |
| MROH1(NM_032450,maestro heat-like repeat family member 1,1641aa) | g.8:145234485C>T,c.296C>T,p.T99M |
| MROH1(NM_032450,maestro heat-like repeat family member 1,1641aa) | g.8:145223329C>T,c.154C>T,p.R52W |
| MROH1(NM_032450,maestro heat-like repeat family member 1,1641aa) | g.8:145223288C>T,c.113C>T,p.A38V |
| MROH1(NM_032450,maestro heat-like repeat family member 1,1641aa) | g.8:145223222C>T,c.47C>T,p.A16V |
| MROH1(NM_032450,maestro heat-like repeat family member 1,1641aa) | g.8:145223221G>A,c.46G>A,p.A16T |
| MRM1(NM_024864,mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae),353aa) | g.17:34964403C>T,c.838C>T,p.R280W |
| MRM1(NM_024864,mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae),353aa) | g.17:34958598G>C,c.359G>C,p.C120S |
| MRM1(NM_024864,mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae),353aa) | g.17:34958573C>G,c.334C>G,p.R112G |
| MRM1(NM_024864,mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae),353aa) | g.17:34958466C>G,c.227C>G,p.A76G |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13883034G>A,c.1049G>A,p.R350Q |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13882941G>C,c.956G>C,p.G319A |