| 基因名 | 突变 |
|---|---|
| MAN1C1(NM_020379,mannosidase, alpha, class 1C, member 1,630aa) | g.1:26110236G>A,c.1849G>A,p.V617M |
| MAN1C1(NM_020379,mannosidase, alpha, class 1C, member 1,630aa) | g.1:26109124G>A,c.1699G>A,p.D567N |
| MAN1C1(NM_020379,mannosidase, alpha, class 1C, member 1,630aa) | g.1:26107481G>A,c.1528G>A,p.V510M |
| MAN1C1(NM_020379,mannosidase, alpha, class 1C, member 1,630aa) | g.1:26104773G>A,c.1435G>A,p.A479T |
| MAN1C1(NM_020379,mannosidase, alpha, class 1C, member 1,630aa) | g.1:26104629G>C,c.1291G>C,p.G431R |
| MAN1C1(NM_020379,mannosidase, alpha, class 1C, member 1,630aa) | g.1:26073242G>A,c.721G>A,p.A241T |
| MAN1C1(NM_020379,mannosidase, alpha, class 1C, member 1,630aa) | g.1:25944454C>G,c.166C>G,p.P56A |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:140002963G>A,c.2020G>A,p.D674N |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:140001888G>A,c.1753G>A,p.V585M |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:140001753G>A,c.1618G>A,p.G540S |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:140001194G>A,c.1499G>A,p.R500Q |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:140000755A>G,c.1433A>G,p.K478R |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:139996099G>A,c.1229G>A,p.R410H |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:139996098C>T,c.1228C>T,p.R410C |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:139992294T>G,c.635T>G,p.V212G |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:139992291C>T,c.632C>T,p.A211V |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:139990813C>T,c.590C>T,p.P197L |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:139990809C>T,c.586C>T,p.R196C |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:139983339A>G,c.347A>G,p.E116G |
| MAN1B1(NM_016219,mannosidase, alpha, class 1B, member 1,699aa) | g.9:139981627A>G,c.176A>G,p.N59S |
| MAN1A2(NM_006699,mannosidase, alpha, class 1A, member 2,641aa) | g.1:118065541G>A,c.1888G>A,p.A630T |
| MAN1A1(NM_005907,mannosidase, alpha, class 1A, member 1,653aa) | g.6:119669741C>T,c.490G>A,p.D164N |
| MAN1A1(NM_005907,mannosidase, alpha, class 1A, member 1,653aa) | g.6:119623261G>C,c.708C>G,p.I236M |
| MAN1A1(NM_005907,mannosidase, alpha, class 1A, member 1,653aa) | g.6:119510904C>T,c.1471G>A,p.E491K |
| MAN1A1(NM_005907,mannosidase, alpha, class 1A, member 1,653aa) | g.6:119501004C>G,c.1942G>C,p.V648L |
| MAMSTR(NM_182574,MEF2 activating motif and SAP domain containing transcriptional regulator,312aa) | g.19:49217732C>T,c.305G>A,p.G102D |
| MAMSTR(NM_182574,MEF2 activating motif and SAP domain containing transcriptional regulator,312aa) | g.19:49217181G>A,c.536C>T,p.S179L |
| MAMSTR(NM_182574,MEF2 activating motif and SAP domain containing transcriptional regulator,312aa) | g.19:49216607G>A,c.856C>T,p.P286S |