| 基因名 | 突变 |
|---|---|
| SMCR9(NM_001243312,Smith-Magenis syndrome chromosome region, candidate 9,180aa) | g.17:17326363G>A,c.178G>A,p.V60I |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18226071G>A,c.2501G>A,p.R834H |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18226070C>T,c.2500C>T,p.R834C |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18226056G>A,c.2486G>A,p.R829H |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18225983C>A,c.2413C>A,p.R805S |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18221250A>G,c.2147A>G,p.Q716R |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18221231G>A,c.2128G>A,p.A710T |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18221142G>A,c.2039G>A,p.S680N |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18221048G>A,c.1945G>A,p.A649T |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18221010A>G,c.1907A>G,p.N636S |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18220889G>T,c.1786G>T,p.V596L |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18220770G>A,c.1667G>A,p.R556H |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18220761G>A,c.1658G>A,p.G553E |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18220721G>T,c.1618G>T,p.A540S |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18220674C>T,c.1571C>T,p.P524L |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18220268A>G,c.1165A>G,p.I389V |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18220133A>G,c.1030A>G,p.M344V |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18220101A>G,c.998A>G,p.Q333R |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18220086C>A,c.983C>A,p.T328N |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18219711A>C,c.608A>C,p.D203A |
| SMCR8(NM_144775,Smith-Magenis syndrome chromosome region, candidate 8,937aa) | g.17:18219538G>T,c.435G>T,p.E145D |
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18168066del,c.1353del,p.451fs |
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18167941G>A,c.1228G>A,p.G410S |
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18167897A>C,c.1184A>C,p.E395A |
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18167837G>A,c.1124G>A,p.R375Q |
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18167816C>T,c.1103C>T,p.S368L |
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18167741G>A,c.1028G>A,p.R343Q |
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18167684G>A,c.971G>A,p.G324E |