| 基因名 | 突变 |
|---|---|
| MGAT5B(NM_001199172,mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B,792aa) | g.17:74878346C>T,c.295C>T,p.R99W |
| MGAT5B(NM_001199172,mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B,792aa) | g.17:74878259G>A,c.208G>A,p.V70I |
| MGAT4C(NM_013244,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative),478aa) | g.12:86377390T>G,c.206A>C,p.Y69S |
| MGAT4C(NM_013244,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative),478aa) | g.12:86377322C>T,c.274G>A,p.A92T |
| MGAT4C(NM_013244,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative),478aa) | g.12:86373221G>C,c.1283C>G,p.T428S |
| MGAT4C(NM_013244,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative),478aa) | g.12:86373159T>C,c.1345A>G,p.I449V |
| MGAT4B(NM_054013,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B,563aa) | g.5:179229039A>C,c.73T>G,p.W25G |
| MGAT4B(NM_054013,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B,563aa) | g.5:179229032G>A,c.80C>T,p.T27I |
| MGAT4B(NM_054013,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B,563aa) | g.5:179228891T>C,c.221A>G,p.K74R |
| MGAT4B(NM_054013,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B,563aa) | g.5:179228880C>T,c.232G>A,p.E78K |
| MGAT4B(NM_054013,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B,563aa) | g.5:179228694T>C,c.329A>G,p.E110G |
| MGAT4B(NM_054013,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B,563aa) | g.5:179228377G>A,c.560C>T,p.P187L |
| MGAT4B(NM_054013,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B,563aa) | g.5:179228375G>C,c.562C>G,p.Q188E |
| MGAT4B(NM_054013,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B,563aa) | g.5:179228369T>C,c.568A>G,p.K190E |
| MGAT4B(NM_054013,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B,563aa) | g.5:179227545G>T,c.703C>A,p.H235N |
| MGAT4B(NM_054013,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B,563aa) | g.5:179226507G>A,c.1085C>T,p.A362V |
| MGAT4A(NM_012214,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A,535aa) | g.2:99342785C>T,c.11G>A,p.R4H |
| MGAT4A(NM_012214,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A,535aa) | g.2:99294901G>A,c.128C>T,p.A43V |
| MGAT4A(NM_012214,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A,535aa) | g.2:99294838G>A,c.191C>T,p.T64M |
| MGAT4A(NM_012214,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A,535aa) | g.2:99271976T>C,c.706A>G,p.T236A |
| MGAT4A(NM_012214,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A,535aa) | g.2:99260459T>A,c.947A>T,p.Y316F |
| MGAT4A(NM_012214,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A,535aa) | g.2:99256280T>C,c.1313A>G,p.N438S |
| MGAT4A(NM_012214,mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A,535aa) | g.2:99242245T>C,c.1522A>G,p.I508V |
| MGAT3(NM_002409,mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase,533aa) | g.22:39884925C>T,c.1573C>T,p.R525W |
| MGAT3(NM_002409,mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase,533aa) | g.22:39884878C>T,c.1526C>T,p.A509V |
| MGAT3(NM_002409,mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase,533aa) | g.22:39884847G>C,c.1495G>C,p.D499H |
| MGAT3(NM_002409,mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase,533aa) | g.22:39884765G>C,c.1413G>C,p.E471D |
| MGAT3(NM_002409,mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase,533aa) | g.22:39883576A>G,c.224A>G,p.Y75C |