| 基因名 | 突变 |
|---|---|
| MON1A(NM_032355,MON1 secretory trafficking family member A,652aa) | g.3:49946527C>T,c.1879G>A,p.V627I |
| MOK(NM_014226,MOK protein kinase,419aa) | g.14:102729910C>T,c.256G>A,p.D86N |
| MOK(NM_014226,MOK protein kinase,419aa) | g.14:102729886G>A,c.280C>T,p.R94X |
| MOK(NM_014226,MOK protein kinase,419aa) | g.14:102729881A>G,c.283+2T>C,p.95Donor |
| MOK(NM_014226,MOK protein kinase,419aa) | g.14:102717236C>T,c.503G>A,p.R168Q |
| MOK(NM_014226,MOK protein kinase,419aa) | g.14:102700028T>C,c.689A>G,p.K230R |
| MOK(NM_014226,MOK protein kinase,419aa) | g.14:102698948C>T,c.790G>A,p.A264T |
| MOK(NM_014226,MOK protein kinase,419aa) | g.14:102698912C>T,c.826G>A,p.A276T |
| MOK(NM_014226,MOK protein kinase,419aa) | g.14:102698111G>A,c.914C>T,p.P305L |
| MOK(NM_014226,MOK protein kinase,419aa) | g.14:102698079_102698080insGA,c.945_946insTC,p.315fs |
| MOK(NM_014226,MOK protein kinase,419aa) | g.14:102695693T>C,c.1193A>G,p.Q398R |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74692290G>C,c.85C>G,p.R29G |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74692191C>T,c.184G>A,p.V62M |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74690429C>T,c.664G>A,p.G222R |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74690378C>T,c.715G>A,p.D239N |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74690080C>G,c.836G>C,p.S279T |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74690039G>A,c.877C>T,p.P293S |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74690035G>A,c.881C>T,p.P294L |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74689855C>T,c.1061G>A,p.G354D |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74689671G>C,c.1245C>G,p.I415M |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74689432C>T,c.1484G>A,p.R495Q |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74689335G>T,c.1581C>A,p.D527E |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74689078C>T,c.1838G>A,p.R613Q |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74688899C>T,c.2017G>A,p.V673I |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74688884G>A,c.2032C>T,p.R678W |
| MOGS(NM_006302,mannosyl-oligosaccharide glucosidase,837aa) | g.2:74688563C>T,c.2353G>A,p.G785S |
| MOG(NM_206809,myelin oligodendrocyte glycoprotein,247aa) | g.6:29638163G>A,c.698G>A,p.R233Q |
| MOG(NM_206809,myelin oligodendrocyte glycoprotein,247aa) | g.6:29634012A>G,c.520A>G,p.I174V |