| Genename | Variants |
|---|---|
| AAAS(NM_015665,achalasia, adrenocortical insufficiency, alacrimia,546aa) | g.12:53708133C>G,c.638G>C,p.C213S |
| AAAS(NM_015665,achalasia, adrenocortical insufficiency, alacrimia,546aa) | g.12:53701317C>T,c.1597G>A,p.G533R |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137849888C>T,c.211G>A,p.V71I |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137849861C>T,c.238G>A,p.E80K |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137849815G>A,c.284C>T,p.P95L |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137849759C>T,c.340G>A,p.V114I |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137843708C>T,c.421G>A,p.A141T |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137843680G>A,c.449C>T,p.S150L |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137843567G>A,c.562C>T,p.R188W |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137843487G>T,c.642C>A,p.H214Q |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137843476G>T,c.653C>A,p.A218D |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137843333G>A,c.796C>T,p.R266X |
| A4GNT(NM_016161,alpha-1,4-N-acetylglucosaminyltransferase,340aa) | g.3:137843246G>T,c.883C>A,p.Q295K |
| A4GALT(NM_017436,alpha 1,4-galactosyltransferase,353aa) | g.22:43089858C>T,c.100G>A,p.V34I |
| A4GALT(NM_017436,alpha 1,4-galactosyltransferase,353aa) | g.22:43089849T>C,c.109A>G,p.M37V |
| A4GALT(NM_017436,alpha 1,4-galactosyltransferase,353aa) | g.22:43089755G>A,c.203C>T,p.T68I |
| A4GALT(NM_017436,alpha 1,4-galactosyltransferase,353aa) | g.22:43089600C>T,c.358G>A,p.G120S |
| A4GALT(NM_017436,alpha 1,4-galactosyltransferase,353aa) | g.22:43089288C>T,c.670G>A,p.E224K |
| A4GALT(NM_017436,alpha 1,4-galactosyltransferase,353aa) | g.22:43089066C>A,c.892G>T,p.D298Y |
| A4GALT(NM_017436,alpha 1,4-galactosyltransferase,353aa) | g.22:43089055G>C,c.903C>G,p.P301P |
| A3GALT2(NM_001080438,alpha 1,3-galactosyltransferase 2,340aa) | g.1:33778468C>T,c.47G>A,p.R16Q |
| A3GALT2(NM_001080438,alpha 1,3-galactosyltransferase 2,340aa) | g.1:33778153G>A,c.146C>T,p.S49L |
| A3GALT2(NM_001080438,alpha 1,3-galactosyltransferase 2,340aa) | g.1:33778143C>T,c.156G>A,p.M52I |
| A3GALT2(NM_001080438,alpha 1,3-galactosyltransferase 2,340aa) | g.1:33777681T>C,c.307A>G,p.I103V |
| A3GALT2(NM_001080438,alpha 1,3-galactosyltransferase 2,340aa) | g.1:33777670_33777673del,c.315_318del,p.105fs |
| A3GALT2(NM_001080438,alpha 1,3-galactosyltransferase 2,340aa) | g.1:33772924G>C,c.466C>G,p.R156G |
| A3GALT2(NM_001080438,alpha 1,3-galactosyltransferase 2,340aa) | g.1:33772793G>C,c.597C>G,p.D199E |
| A3GALT2(NM_001080438,alpha 1,3-galactosyltransferase 2,340aa) | g.1:33772792C>T,c.598G>A,p.V200M |