| Genename | Variants |
|---|---|
| ALG9(NM_001077691,ALG9, alpha-1,2-mannosyltransferase,447aa) | g.11:111680496A>C,c.1091T>G,p.I364S |
| ALG9(NM_001077691,ALG9, alpha-1,2-mannosyltransferase,447aa) | g.11:111657228G>A,c.1237C>T,p.R413W |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77838424T>C,c.154A>G,p.I52V |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77835244G>A,c.191C>T,p.T64M |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77835070C>T,c.365G>A,p.R122H |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77832207T>C,c.382A>G,p.I128V |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77832129C>T,c.460G>A,p.G154R |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77832110C>T,c.478+1G>A,p.160Donor |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77830292A>G,c.482T>C,p.I161T |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77825320T>C,c.665A>G,p.N222S |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77825316T>G,c.669A>C,p.K223N |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77823791C>T,c.803G>A,p.R268Q |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77820546G>C,c.980C>G,p.T327R |
| ALG8(NM_001007027,ALG8, alpha-1,3-glucosyltransferase,467aa) | g.11:77815059A>G,c.1316T>C,p.I439T |
| ALG6(NM_013339,ALG6, alpha-1,3-glucosyltransferase,507aa) | g.1:63902663G>A,c.1496G>A,p.S499N |
| ALG6(NM_013339,ALG6, alpha-1,3-glucosyltransferase,507aa) | g.1:63902524C>G,c.1357C>G,p.L453V |
| ALG6(NM_013339,ALG6, alpha-1,3-glucosyltransferase,507aa) | g.1:63881552C>T,c.911C>T,p.S304F |
| ALG6(NM_013339,ALG6, alpha-1,3-glucosyltransferase,507aa) | g.1:63872032T>C,c.391T>C,p.Y131H |
| ALG5(NM_013338,ALG5, dolichyl-phosphate beta-glucosyltransferase,324aa) | g.13:37524085C>T,c.969G>A,p.M323I |
| ALG3(NM_001006941,ALG3, alpha-1,3- mannosyltransferase,390aa) | g.3:183963381T>C,c.175A>G,p.I59V |
| ALG3(NM_001006941,ALG3, alpha-1,3- mannosyltransferase,390aa) | g.3:183963134C>T,c.313G>A,p.V105I |
| ALG3(NM_001006941,ALG3, alpha-1,3- mannosyltransferase,390aa) | g.3:183961666G>A,c.701C>T,p.A234V |
| ALG3(NM_001006941,ALG3, alpha-1,3- mannosyltransferase,390aa) | g.3:183960671C>T,c.940G>A,p.V314I |
| ALG3(NM_001006941,ALG3, alpha-1,3- mannosyltransferase,390aa) | g.3:183960348G>A,c.1127C>T,p.P376L |
| ALG2(NM_033087,ALG2, alpha-1,3/1,6-mannosyltransferase,416aa) | g.9:101984160C>G,c.17G>C,p.G6A |
| ALG2(NM_033087,ALG2, alpha-1,3/1,6-mannosyltransferase,416aa) | g.9:101984147G>C,c.30C>G,p.D10E |
| ALG2(NM_033087,ALG2, alpha-1,3/1,6-mannosyltransferase,416aa) | g.9:101984146A>G,c.31T>C,p.S11P |
| ALG2(NM_033087,ALG2, alpha-1,3/1,6-mannosyltransferase,416aa) | g.9:101984010G>A,c.167C>T,p.P56L |