| 基因名 | 突变 |
|---|---|
| LEPREL1(NM_018192,leprecan-like 1,708aa) | g.3:189838208C>T,c.313G>A,p.A105T |
| LEPREL1(NM_018192,leprecan-like 1,708aa) | g.3:189838142G>A,c.379C>T,p.R127C |
| LEPREL1(NM_018192,leprecan-like 1,708aa) | g.3:189713157C>A,c.555G>T,p.Q185H |
| LEPREL1(NM_018192,leprecan-like 1,708aa) | g.3:189711924T>A,c.782A>T,p.E261V |
| LEPREL1(NM_018192,leprecan-like 1,708aa) | g.3:189706762G>A,c.889C>T,p.R297C |
| LEPREL1(NM_018192,leprecan-like 1,708aa) | g.3:189706735G>A,c.916C>T,p.P306S |
| LEPREL1(NM_018192,leprecan-like 1,708aa) | g.3:189702346C>T,c.1222G>A,p.E408K |
| LEPREL1(NM_018192,leprecan-like 1,708aa) | g.3:189700879A>G,c.1280T>C,p.M427T |
| LEPREL1(NM_018192,leprecan-like 1,708aa) | g.3:189690780C>T,c.1582G>A,p.A528T |
| LEPREL1(NM_018192,leprecan-like 1,708aa) | g.3:189681806T>C,c.1975A>G,p.K659E |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43232562C>G,c.81G>C,p.E27D |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43232504C>A,c.139G>T,p.A47S |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43232217C>A,c.426G>T,p.K142N |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43224641C>G,c.822G>C,p.Q274H |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43223489C>T,c.1045G>A,p.G349R |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43220600C>T,c.1285G>A,p.E429K |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43220563T>C,c.1322A>G,p.D441G |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43218013G>A,c.1501C>T,p.R501W |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43217997G>C,c.1517C>G,p.P506R |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43215952G>A,c.1625C>T,p.T542M |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43215930C>T,c.1647G>A,p.M549I |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43213903T>G,c.1806A>C,p.K602N |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43213068G>T,c.1930C>A,p.Q644K |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43212930G>C,c.2068C>G,p.R690G |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43212926G>A,c.2072C>T,p.A691V |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43212869A>T,c.2129T>A,p.F710Y |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43212750C>T,c.2248G>A,p.G750R |
| LEPRE1(NM_001243246,leucine proline-enriched proteoglycan (leprecan) 1,804aa) | g.1:43212714C>T,c.2284G>A,p.D762N |