| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240871398C>A | CA275695 | AGXT | c.473C>A (p.Ser158Ter) n.493C>A n.210C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.240871398C>T | CA275694 | AGXT | c.473C>T (p.Ser158Leu) n.493C>T n.210C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.240871398C= | CA1339332102 | AGXT | c.473C= (p.Ser158=) n.493C= n.210C= | dbSNP dbSNP |