| 基因名 | 突变 |
|---|---|
| SMOC1(NM_001034852,SPARC related modular calcium binding 1,435aa) | g.14:70420190A>C,c.319A>C,p.K107Q |
| SMOC1(NM_001034852,SPARC related modular calcium binding 1,435aa) | g.14:70418985C>T,c.230C>T,p.P77L |
| SMOC1(NM_001034852,SPARC related modular calcium binding 1,435aa) | g.14:70418945G>A,c.190G>A,p.E64K |
| SMOC1(NM_001034852,SPARC related modular calcium binding 1,435aa) | g.14:70418871G>A,c.116G>A,p.R39H |
| SMNDC1(NM_005871,survival motor neuron domain containing 1,238aa) | g.10:112058461T>C,c.208A>G,p.T70A |
| SMN1(NM_000344,survival of motor neuron 1, telomeric,294aa) | g.5:69372372G>C,c.859G>C,p.G287R |
| SMLR1(NM_001195597,small leucine-rich protein 1,107aa) | g.6:131148737G>A,c.184G>A,p.V62M |
| SMLR1(NM_001195597,small leucine-rich protein 1,107aa) | g.6:131148657G>T,c.104G>T,p.W35L |
| SMLR1(NM_001195597,small leucine-rich protein 1,107aa) | g.6:131148644G>A,c.91G>A,p.V31M |
| SMKR1(NM_001195243,small lysine-rich protein 1,65aa) | g.7:129152191A>G,c.107A>G,p.Y36C |
| SMKR1(NM_001195243,small lysine-rich protein 1,65aa) | g.7:129152173C>T,c.89C>T,p.A30V |
| SMKR1(NM_001195243,small lysine-rich protein 1,65aa) | g.7:129152172G>A,c.88G>A,p.A30T |
| SMIM9(NM_001162936,small integral membrane protein 9,99aa) | g.X:154059109A>G,c.23T>C,p.I8T |
| SMIM8(NM_001042493,small integral membrane protein 8,97aa) | g.6:88049927C>T,c.229C>T,p.L77F |
| SMIM8(NM_001042493,small integral membrane protein 8,97aa) | g.6:88049888A>T,c.190A>T,p.I64F |
| SMIM7(NM_024104,small integral membrane protein 7,75aa) | g.19:16764936C>T,c.122G>A,p.G41D |
| SMIM7(NM_024104,small integral membrane protein 7,75aa) | g.19:16764907G>A,c.151C>T,p.L51F |
| SMIM7(NM_024104,small integral membrane protein 7,75aa) | g.19:16758065C>T,c.220G>A,p.G74S |
| SMIM6(NM_001162997,small integral membrane protein 6,62aa) | g.17:73643493G>T,c.37G>T,p.D13Y |
| SMIM5(NM_001162995,small integral membrane protein 5,77aa) | g.17:73636369G>A,c.88G>A,p.V30M |
| SMIM5(NM_001162995,small integral membrane protein 5,77aa) | g.17:73636303C>A,c.22C>A,p.Q8K |
| SMIM5(NM_001162995,small integral membrane protein 5,77aa) | g.17:73636294G>A,c.13G>A,p.D5N |
| SMIM3(NM_032947,small integral membrane protein 3,60aa) | g.5:150175153C>T,c.151C>T,p.R51W |
| SMIM3(NM_032947,small integral membrane protein 3,60aa) | g.5:150175148G>A,c.146G>A,p.R49H |
| SMIM3(NM_032947,small integral membrane protein 3,60aa) | g.5:150175109C>T,c.107C>T,p.S36L |
| SMIM3(NM_032947,small integral membrane protein 3,60aa) | g.5:150175003A>G,c.1A>G,p.M1V |
| SMIM2(NM_024058,small integral membrane protein 2,85aa) | g.13:44734986T>A,c.6A>T,p.E2D |
| SMIM2(NM_024058,small integral membrane protein 2,85aa) | g.13:44734949T>C,c.43A>G,p.R15G |