| Genename | Variants |
|---|---|
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129811017C>T,c.205C>T,p.R69C |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129811015C>T,c.203C>T,p.T68M |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129810985C>T,c.173C>T,p.T58M |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129810973G>A,c.161G>A,p.R54Q |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129810202C>T,c.119C>T,p.P40L |
| ALG1L2(NM_001136152,ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2,215aa) | g.3:129800873C>T,c.14C>T,p.A5V |
| ALG14(NM_144988,ALG14, UDP-N-acetylglucosaminyltransferase subunit,216aa) | g.1:95538424C>T,c.31G>A,p.A11T |
| ALG14(NM_144988,ALG14, UDP-N-acetylglucosaminyltransferase subunit,216aa) | g.1:95538342C>A,c.113G>T,p.S38I |
| ALG14(NM_144988,ALG14, UDP-N-acetylglucosaminyltransferase subunit,216aa) | g.1:95492699C>T,c.406G>A,p.V136M |
| ALG13(NM_001257231,ALG13, UDP-N-acetylglucosaminyltransferase subunit,1059aa) | g.X:111003192C>T,c.3145C>T,p.P1049S |
| ALG13(NM_001257231,ALG13, UDP-N-acetylglucosaminyltransferase subunit,1059aa) | g.X:111000850A>G,c.2774A>G,p.Y925C |
| ALG13(NM_001257231,ALG13, UDP-N-acetylglucosaminyltransferase subunit,1059aa) | g.X:110980084C>T,c.2438C>T,p.S813F |
| ALG13(NM_001257231,ALG13, UDP-N-acetylglucosaminyltransferase subunit,1059aa) | g.X:110980018C>T,c.2372C>T,p.A791V |
| ALG13(NM_001257231,ALG13, UDP-N-acetylglucosaminyltransferase subunit,1059aa) | g.X:110970105A>G,c.1564A>G,p.M522V |
| ALG13(NM_001257231,ALG13, UDP-N-acetylglucosaminyltransferase subunit,1059aa) | g.X:110925461C>T,c.8C>T,p.T3I |
| ALG12(NM_024105,ALG12, alpha-1,6-mannosyltransferase,488aa) | g.22:50307162C>T,c.166G>A,p.D56N |
| ALG12(NM_024105,ALG12, alpha-1,6-mannosyltransferase,488aa) | g.22:50307086G>A,c.242C>T,p.A81V |
| ALG12(NM_024105,ALG12, alpha-1,6-mannosyltransferase,488aa) | g.22:50304192C>T,c.359G>A,p.R120Q |
| ALG12(NM_024105,ALG12, alpha-1,6-mannosyltransferase,488aa) | g.22:50303575G>A,c.631C>T,p.R211C |
| ALG12(NM_024105,ALG12, alpha-1,6-mannosyltransferase,488aa) | g.22:50301492G>A,c.869C>T,p.A290V |
| ALG12(NM_024105,ALG12, alpha-1,6-mannosyltransferase,488aa) | g.22:50298100G>C,c.1047C>G,p.I349M |
| ALG12(NM_024105,ALG12, alpha-1,6-mannosyltransferase,488aa) | g.22:50298014C>T,c.1133G>A,p.R378K |
| ALG12(NM_024105,ALG12, alpha-1,6-mannosyltransferase,488aa) | g.22:50297888T>C,c.1177A>G,p.I393V |
| ALG11(NM_001004127,ALG11, alpha-1,2-mannosyltransferase,492aa) | g.13:52598189A>G,c.323A>G,p.N108S |
| ALG11(NM_001004127,ALG11, alpha-1,2-mannosyltransferase,492aa) | g.13:52593128A>G,c.124A>G,p.I42V |
| ALG10(NM_032834,ALG10, alpha-1,2-glucosyltransferase,473aa) | g.12:34179746G>T,c.1318G>T,p.E440X |
| ALG10(NM_032834,ALG10, alpha-1,2-glucosyltransferase,473aa) | g.12:34179294C>G,c.866C>G,p.P289R |
| ALG10(NM_032834,ALG10, alpha-1,2-glucosyltransferase,473aa) | g.12:34176899G>T,c.174G>T,p.W58C |