| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99875394C>T | CA114765 | AGL | c.1222C>T (p.Arg408Ter) n.1433C>T c.1174C>T (p.Arg392Ter) c.1171C>T (p.Arg391Ter) n.481C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99875394C= | CA1141373046 | AGL | c.1222C= (p.Arg408=) n.1433C= c.1174C= (p.Arg392=) c.1171C= (p.Arg391=) n.481C= | dbSNP |