| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.11025794C>T | CA16617799 | SLC6A1 | c.943C>T (p.Gln315Ter) c.871C>T (p.Gln291Ter) n.4486C>T n.1262C>T c.511C>T (p.Gln171Ter) c.337C>T (p.Gln113Ter) c.*254C>T (n.*254C>T) n.703C>T c.680C>T c.448C>T (p.Gln150Ter) n.3239C>T | ClinVar dbSNP |
| 3 | g.11025794C= | CA1345468921 | SLC6A1 | c.943C= (p.Gln315=) c.871C= (p.Gln291=) n.4486C= n.1262C= c.511C= (p.Gln171=) c.337C= (p.Gln113=) c.*254C= (n.*254C=) n.703C= c.680C= c.448C= (p.Gln150=) n.3239C= | dbSNP |