| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43192413C>T | CA16043726 | HGSNAT | c.1360C>T (p.Gln454Ter) n.293C>T c.511C>T (p.Gln171Ter) c.464C>T c.1168C>T (p.Gln390Ter) c.496C>T (p.Gln166Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43192413C= | CA1779759982 | HGSNAT | c.1360C= (p.Gln454=) n.293C= c.511C= (p.Gln171=) c.464C= c.1168C= (p.Gln390=) c.496C= (p.Gln166=) | dbSNP |