| 基因名 | 突变 |
|---|---|
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6299654T>C,c.647T>C,p.I216T |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6296560G>A,c.523G>A,p.A175T |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6296550G>T,c.513G>T,p.R171S |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6296482G>A,c.445G>A,p.V149I |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6296481T>G,c.444T>G,p.D148E |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6289091G>A,c.305G>A,p.S102N |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6272353A>G,c.182A>G,p.D61G |
| MCOLN3(NM_018298,mucolipin 3,553aa) | g.1:85510931A>G,c.113T>C,p.M38T |
| MCOLN3(NM_018298,mucolipin 3,553aa) | g.1:85506725C>T,c.364G>A,p.V122M |
| MCOLN3(NM_018298,mucolipin 3,553aa) | g.1:85499850G>T,c.481C>A,p.H161N |
| MCOLN3(NM_018298,mucolipin 3,553aa) | g.1:85499832T>C,c.499A>G,p.N167D |
| MCOLN3(NM_018298,mucolipin 3,553aa) | g.1:85498408G>C,c.703C>G,p.L235V |
| MCOLN3(NM_018298,mucolipin 3,553aa) | g.1:85486956G>A,c.1324C>T,p.R442C |
| MCOLN3(NM_018298,mucolipin 3,553aa) | g.1:85484931G>T,c.1537C>A,p.Q513K |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85431375G>A,c.94C>T,p.R32C |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85431291G>A,c.178C>T,p.R60C |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85418130G>A,c.649C>T,p.R217W |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85417961G>A,c.712C>T,p.R238C |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85417927G>A,c.746C>T,p.T249M |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85412716T>A,c.847A>T,p.T283S |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85405370A>G,c.976T>C,p.F326L |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85405361T>A,c.985A>T,p.K329X |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85405253T>C,c.1093A>G,p.M365V |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85405238T>G,c.1108A>C,p.K370Q |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85397238T>C,c.1349A>G,p.N450S |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85397136C>T,c.1451G>A,p.R484H |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85397076G>A,c.1511C>T,p.A504V |
| MCOLN2(NM_153259,mucolipin 2,566aa) | g.1:85395250C>G,c.1655G>C,p.C552S |