| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70766128C>T | CA16042597 | AUTS2 | c.1483C>T (p.Arg495Ter) c.-183C>T (n.-183C>T) c.109C>T (p.Arg37Ter) c.1480C>T (p.Arg494Ter) c.327C>T c.108C>T n.90C>T c.739C>T (p.Arg247Ter) c.1192C>T (p.Arg398Ter) c.1009C>T (p.Arg337Ter) c.982C>T (p.Arg328Ter) | ClinVar dbSNP |
| 7 | g.70766128C= | CA1716165932 | AUTS2 | c.1483C= (p.Arg495=) c.-183C= (n.-183C=) c.109C= (p.Arg37=) c.1480C= (p.Arg494=) c.327C= c.108C= n.90C= c.739C= (p.Arg247=) c.1192C= (p.Arg398=) c.1009C= (p.Arg337=) c.982C= (p.Arg328=) | dbSNP |