| 基因名 | 突变 |
|---|---|
| MAK16(NM_032509,MAK16 homolog (S. cerevisiae),300aa) | g.8:33346509C>T,c.244C>T,p.R82W |
| MAK16(NM_032509,MAK16 homolog (S. cerevisiae),300aa) | g.8:33346315G>A,c.239G>A,p.R80Q |
| MAGT1(NM_032121,magnesium transporter 1,367aa) | g.X:77150892G>A,c.112C>T,p.R38W |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35802870G>A,c.1666G>A,p.V556I |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35801492T>G,c.1562T>G,p.V521G |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35793500G>A,c.1120G>A,p.E374K |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35793405C>T,c.1025C>T,p.T342M |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35791279C>A,c.942C>A,p.D314E |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35791242T>A,c.905T>A,p.V302D |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35791178C>T,c.841C>T,p.R281W |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35790645C>A,c.604C>A,p.L202M |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35790554G>T,c.513G>T,p.E171D |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35790493C>T,c.452C>T,p.A151V |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35786878A>G,c.409A>G,p.I137V |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35786867G>A,c.398G>A,p.S133N |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35786788G>A,c.319G>A,p.V107I |
| MAG(NM_080600,myelin associated glycoprotein,582aa) | g.19:35786705A>G,c.236A>G,p.Q79R |
| MAGIX(NM_024859,MAGI family member, X-linked,334aa) | g.X:49022700T>C,c.967T>C,p.F323L |
| MAGIX(NM_024859,MAGI family member, X-linked,334aa) | g.X:49021537G>C,c.517G>C,p.V173L |
| MAGIX(NM_024859,MAGI family member, X-linked,334aa) | g.X:49021310G>A,c.389G>A,p.R130H |
| MAGIX(NM_024859,MAGI family member, X-linked,334aa) | g.X:49021256A>G,c.335A>G,p.H112R |
| MAGIX(NM_024859,MAGI family member, X-linked,334aa) | g.X:49021050A>G,c.202A>G,p.S68G |
| MAGIX(NM_024859,MAGI family member, X-linked,334aa) | g.X:49020240G>A,c.169G>A,p.A57T |
| MAGIX(NM_024859,MAGI family member, X-linked,334aa) | g.X:49019247G>A,c.20G>A,p.G7D |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114215353G>A,c.3035G>A,p.R1012Q |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114193693G>A,c.2305G>A,p.A769T |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114193691G>A,c.2303G>A,p.R768H |
| MAGI3(NM_152900,membrane associated guanylate kinase, WW and PDZ domain containing 3,1125aa) | g.1:114193690C>T,c.2302C>T,p.R768C |