| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99900712A>T | CA341331218 | AGL | c.3439A>T (p.Arg1147Ter) n.3650A>T c.3391A>T (p.Arg1131Ter) c.3388A>T (p.Arg1130Ter) c.1699A>T (p.Arg567Ter) | ClinVar dbSNP |
| 1 | g.99900712A>G | CA114767 | AGL | c.3439A>G (p.Arg1147Gly) n.3650A>G c.3391A>G (p.Arg1131Gly) c.3388A>G (p.Arg1130Gly) c.1699A>G (p.Arg567Gly) | ClinVar dbSNP gnomAD v4 |