| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43173728A>C | CA371116505 | HGSNAT | c.836A>C (p.Asp279Ala) c.*285A>C (n.*285A>C) c.77A>C (p.Asp26Ala) c.820+1342A>C (n.820+1342A>C) c.-14+1342A>C (n.-14+1342A>C) | ClinVar dbSNP |
| 8 | g.43173728A= | CA1779769530 | HGSNAT | c.836A= (p.Asp279=) c.*285A= (n.*285A=) c.77A= (p.Asp26=) c.820+1342A= (n.820+1342A=) c.-14+1342A= (n.-14+1342A=) | dbSNP |
| 8 | g.43173728A>G | CA371116506 | HGSNAT | c.836A>G (p.Asp279Gly) c.*285A>G (n.*285A>G) c.77A>G (p.Asp26Gly) c.820+1342A>G (n.820+1342A>G) c.-14+1342A>G (n.-14+1342A>G) | dbSNP gnomAD v4 |