| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99884627C>T | CA16040838 | AGL | c.2605C>T (p.Gln869Ter) n.2816C>T c.2557C>T (p.Gln853Ter) c.2554C>T (p.Gln852Ter) c.865C>T (p.Gln289Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884627C= | CA1183930644 | AGL | c.2605C= (p.Gln869=) n.2816C= c.2557C= (p.Gln853=) c.2554C= (p.Gln852=) c.865C= (p.Gln289=) | dbSNP |