| Genename | Variants |
|---|---|
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:663011G>A,c.1922G>A,p.R641Q |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:663010C>T,c.1921C>T,p.R641W |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:662873C>T,c.1784C>T,p.A595V |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:662729C>T,c.1640C>T,p.P547L |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:662695C>T,c.1606C>T,p.H536Y |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:662412G>C,c.1323G>C,p.E441D |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:661656A>G,c.1232A>G,p.K411R |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:660088T>C,c.998T>C,p.V333A |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:658950A>G,c.869A>G,p.Q290R |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:657415G>A,c.805G>A,p.G269R |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:657404G>A,c.794G>A,p.R265Q |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:657244G>C,c.762G>C,p.E254D |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:653514C>T,c.361C>T,p.R121C |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:644394C>T,c.232C>T,p.P78S |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:644337G>A,c.175G>A,p.G59S |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47247085G>A,c.1696G>A,p.A566T |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47247014G>A,c.1625G>A,p.R542Q |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47246956C>T,c.1567C>T,p.R523W |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47246212G>A,c.1445G>A,p.R482Q |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47246166G>A,c.1399G>A,p.V467M |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47246163T>C,c.1396T>C,p.C466R |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47243524T>C,c.1183T>C,p.Y395H |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47237991G>A,c.934G>A,p.D312N |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47230176G>A,c.548G>A,p.R183H |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47219405C>T,c.404C>T,p.P135L |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47218799G>A,c.385G>A,p.D129N |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47218740C>T,c.326C>T,p.P109L |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47210552T>G,c.165T>G,p.F55L |