| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240869246C>T | CA275652 | AGXT | c.242C>T (p.Ser81Leu) n.262C>T n.405+987G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.240869246C>A | CA275649 | AGXT | c.242C>A (p.Ser81Ter) n.262C>A n.405+987G>T | ClinVar dbSNP |
| 2 | g.240869246C= | CA1339330953 | AGXT | c.242C= (p.Ser81=) n.262C= n.405+987G= | dbSNP |
| 2 | g.240869246C>G | CA351313529 | AGXT | c.242C>G (p.Ser81Trp) n.262C>G n.405+987G>C | ClinVar dbSNP |