| 基因名 | 突变 |
|---|---|
| MST1L(NM_001271733,macrophage stimulating 1-like,689aa) | g.1:17083872G>A,c.1925C>T,p.P642L |
| MST1L(NM_001271733,macrophage stimulating 1-like,689aa) | g.1:17083837T>C,c.1960A>G,p.K654E |
| MST1L(NM_001271733,macrophage stimulating 1-like,689aa) | g.1:17083816G>A,c.1981C>T,p.R661X |
| MST1L(NM_001271733,macrophage stimulating 1-like,689aa) | g.1:17083807T>C,c.1990A>G,p.T664A |
| MST1L(NM_001271733,macrophage stimulating 1-like,689aa) | g.1:17083782A>C,c.2015T>G,p.F672C |
| MST1L(NM_001271733,macrophage stimulating 1-like,689aa) | g.1:17083776C>A,c.2021G>T,p.R674L |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75188040C>T,c.3G>A,p.M1I |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75188033G>A,c.10C>T,p.R4W |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75188021G>A,c.22C>T,p.R8X |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75187870G>A,c.173C>T,p.S58L |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75187483G>A,c.265C>T,p.R89X |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75187395G>A,c.353C>T,p.S118F |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75186082C>T,c.556G>A,p.D186N |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75186024A>G,c.614T>C,p.V205A |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75185749G>A,c.889C>T,p.R297C |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75185748C>T,c.890G>A,p.R297H |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75185671T>C,c.967A>G,p.I323V |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75184940G>A,c.1079C>T,p.S360F |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75184463A>C,c.1231T>G,p.S411A |
| MSS51(NM_001024593,MSS51 mitochondrial translational activator,460aa) | g.10:75184444A>G,c.1250T>C,p.L417P |
| MSRB3(NM_001193460,methionine sulfoxide reductase B3,185aa) | g.12:65857067G>A,c.523G>A,p.A175T |
| MSRB2(NM_012228,methionine sulfoxide reductase B2,182aa) | g.10:23408330C>T,c.394C>T,p.R132C |
| MSRB2(NM_012228,methionine sulfoxide reductase B2,182aa) | g.10:23408243A>C,c.307A>C,p.K103Q |
| MSRB2(NM_012228,methionine sulfoxide reductase B2,182aa) | g.10:23393091A>G,c.137A>G,p.E46G |
| MSRB1(NM_016332,methionine sulfoxide reductase B1,116aa) | g.16:1989135G>T,c.329C>A,p.T110N |
| MSRA(NM_001199729,methionine sulfoxide reductase A,169aa) | g.8:9953554G>A,c.-132+1G>A,p.5'UTRDonor |
| MSRA(NM_001199729,methionine sulfoxide reductase A,169aa) | g.8:10285703G>A,c.391G>A,p.E131K |
| MSRA(NM_001199729,methionine sulfoxide reductase A,169aa) | g.8:10177398C>T,c.244C>T,p.R82C |