| 基因名 | 突变 |
|---|---|
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94841861G>A,c.367G>A,p.A123T |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94841776C>G,c.282C>G,p.S94R |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94841702G>A,c.208G>A,p.G70R |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94841691G>A,c.197G>A,p.R66Q |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94841690C>T,c.196C>T,p.R66W |
| MCTP2(NM_018349,multiple C2 domains, transmembrane 2,878aa) | g.15:94841634G>A,c.140G>A,p.R47H |
| MCTP1(NM_024717,multiple C2 domains, transmembrane 1,999aa) | g.5:94620102G>A,c.178C>T,p.P60S |
| MCTP1(NM_024717,multiple C2 domains, transmembrane 1,999aa) | g.5:94619585G>A,c.695C>T,p.T232M |
| MCTP1(NM_024717,multiple C2 domains, transmembrane 1,999aa) | g.5:94259704A>T,c.1235T>A,p.V412D |
| MCTP1(NM_024717,multiple C2 domains, transmembrane 1,999aa) | g.5:94253672C>T,c.1279G>A,p.G427S |
| MCTP1(NM_024717,multiple C2 domains, transmembrane 1,999aa) | g.5:94253639T>C,c.1312A>G,p.R438G |
| MCTP1(NM_024717,multiple C2 domains, transmembrane 1,999aa) | g.5:94230358C>T,c.1835G>A,p.R612K |
| MCTP1(NM_024717,multiple C2 domains, transmembrane 1,999aa) | g.5:94208847G>A,c.2033C>T,p.T678M |
| MCTP1(NM_024717,multiple C2 domains, transmembrane 1,999aa) | g.5:94204093T>A,c.2381A>T,p.Y794F |
| MCRS1(NM_006337,microspherule protein 1,462aa) | g.12:49953742C>T,c.890G>A,p.R297Q |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6303053G>A,c.1810G>A,p.G604R |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6303002A>G,c.1759A>G,p.I587V |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302832A>T,c.1589A>T,p.E530V |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302612G>A,c.1369G>A,p.E457K |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302594G>A,c.1351G>A,p.E451K |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302418A>G,c.1175A>G,p.D392G |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302295G>T,c.1052G>T,p.S351I |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302183G>C,c.940G>C,p.D314H |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302178C>A,c.935C>A,p.T312N |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302154G>T,c.911G>T,p.R304I |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302106C>A,c.863C>A,p.P288H |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302033A>G,c.790A>G,p.I264V |
| MCPH1(NM_001172574,microcephalin 1,610aa) | g.8:6302026T>A,c.783T>A,p.D261E |