| 基因名 | 突变 |
|---|---|
| SHQ1(NM_018130,SHQ1, H/ACA ribonucleoprotein assembly factor,577aa) | g.3:72799481C>T,c.1688G>A,p.R563H |
| SHPRH(NM_001042683,SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase,1683aa) | g.6:146276263C>A,c.196G>T,p.A66S |
| SHPRH(NM_001042683,SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase,1683aa) | g.6:146275983T>G,c.476A>C,p.D159A |
| SHPRH(NM_001042683,SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase,1683aa) | g.6:146268741A>C,c.1100T>G,p.L367R |
| SHPRH(NM_001042683,SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase,1683aa) | g.6:146264742A>C,c.1775T>G,p.F592C |
| SHPRH(NM_001042683,SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase,1683aa) | g.6:146243968G>A,c.3550C>T,p.R1184C |
| SHPRH(NM_001042683,SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase,1683aa) | g.6:146243916T>C,c.3602A>G,p.N1201S |
| SHPRH(NM_001042683,SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase,1683aa) | g.6:146242473C>T,c.3838G>A,p.V1280M |
| SHPRH(NM_001042683,SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase,1683aa) | g.6:146214448T>G,c.4777A>C,p.I1593L |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3533592G>C,c.217C>G,p.L73V |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3533577G>A,c.232C>T,p.R78X |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3533547C>T,c.262G>A,p.G88R |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3527384G>A,c.452C>T,p.T151M |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3526660G>A,c.620C>T,p.T207M |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3526637C>T,c.643G>A,p.E215K |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3524695G>A,c.659C>T,p.S220L |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3524663C>T,c.691G>A,p.A231T |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3524660C>T,c.694G>A,p.E232K |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3518813G>A,c.842C>T,p.S281L |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3518700C>T,c.955G>A,p.A319T |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3514054T>C,c.1237A>G,p.M413V |
| SHPK(NM_013276,sedoheptulokinase,478aa) | g.17:3514028G>C,c.1263C>G,p.D421E |
| SHOX2(NM_003030,short stature homeobox 2,355aa) | g.3:157817720C>T,c.703G>A,p.A235T |
| SHOX2(NM_003030,short stature homeobox 2,355aa) | g.3:157816016G>A,c.868C>T,p.P290S |
| SHOX2(NM_003030,short stature homeobox 2,355aa) | g.3:157816010G>C,c.874C>G,p.L292V |
| SHOX2(NM_003030,short stature homeobox 2,355aa) | g.3:157816003G>A,c.881C>T,p.A294V |
| SHMT2(NM_001166357,serine hydroxymethyltransferase 2 (mitochondrial),483aa) | g.12:57627830C>T,c.1261C>T,p.R421W |
| SHMT2(NM_001166357,serine hydroxymethyltransferase 2 (mitochondrial),483aa) | g.12:57627816G>A,c.1247G>A,p.R416H |