| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99902776C>T | CA341743 | AGL | c.3682C>T (p.Arg1228Ter) n.3893C>T c.3634C>T (p.Arg1212Ter) c.3631C>T (p.Arg1211Ter) c.1942C>T (p.Arg648Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99902776C>A | CA967172 | AGL | c.3682C>A (p.Arg1228=) n.3893C>A c.3634C>A (p.Arg1212=) c.3631C>A (p.Arg1211=) c.1942C>A (p.Arg648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |