| 基因名 | 突变 |
|---|---|
| LRRC36(NM_018296,leucine rich repeat containing 36,754aa) | g.16:67401292G>A,c.1127G>A,p.C376Y |
| LRRC36(NM_018296,leucine rich repeat containing 36,754aa) | g.16:67401279G>A,c.1114G>A,p.A372T |
| LRRC36(NM_018296,leucine rich repeat containing 36,754aa) | g.16:67400940C>T,c.775C>T,p.R259C |
| LRRC36(NM_018296,leucine rich repeat containing 36,754aa) | g.16:67397580G>C,c.665G>C,p.R222P |
| LRRC36(NM_018296,leucine rich repeat containing 36,754aa) | g.16:67381484G>T,c.478G>T,p.V160L |
| LRRC36(NM_018296,leucine rich repeat containing 36,754aa) | g.16:67360826G>A,c.61G>A,p.E21K |
| LRRC34(NM_001172780,leucine rich repeat containing 34,361aa) | g.3:169525227G>A,c.431C>T,p.A144V |
| LRRC34(NM_001172780,leucine rich repeat containing 34,361aa) | g.3:169524668C>T,c.496G>A,p.E166K |
| LRRC34(NM_001172780,leucine rich repeat containing 34,361aa) | g.3:169518455T>C,c.745A>G,p.S249G |
| LRRC34(NM_001172780,leucine rich repeat containing 34,361aa) | g.3:169514620C>A,c.821G>T,p.C274F |
| LRRC34(NM_001172780,leucine rich repeat containing 34,361aa) | g.3:169514606T>C,c.835A>G,p.K279E |
| LRRC34(NM_001172780,leucine rich repeat containing 34,361aa) | g.3:169514585A>T,c.856T>A,p.L286I |
| LRRC34(NM_001172780,leucine rich repeat containing 34,361aa) | g.3:169514551C>T,c.890G>A,p.R297H |
| LRRC34(NM_001172780,leucine rich repeat containing 34,361aa) | g.3:169514149A>G,c.917T>C,p.I306T |
| LRRC34(NM_001172780,leucine rich repeat containing 34,361aa) | g.3:169514077G>A,c.989C>T,p.S330F |
| LRRC34(NM_001172780,leucine rich repeat containing 34,361aa) | g.3:169514073_169514077del,c.989_993del,p.330fs |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76372296G>A,c.341C>T,p.A114V |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76372263C>T,c.374G>A,p.R125H |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76372210G>A,c.427C>T,p.R143W |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76372209C>T,c.428G>A,p.R143Q |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76371946C>G,c.691G>C,p.E231Q |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76371849G>A,c.788C>T,p.A263V |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76371705C>G,c.932G>C,p.G311A |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76371565G>A,c.1072C>T,p.R358C |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76371418C>T,c.1219G>A,p.A407T |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76371375C>T,c.1262G>A,p.R421Q |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76371301G>A,c.1336C>T,p.R446C |
| LRRC32(NM_005512,leucine rich repeat containing 32,662aa) | g.11:76371228T>C,c.1409A>G,p.E470G |