| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240871406G>C | CA275700 | AGXT | c.481G>C (p.Gly161Arg) n.501G>C n.218G>C | ClinVar dbSNP |
| 2 | g.240871406G>A | CA275698 | AGXT | c.481G>A (p.Gly161Ser) n.501G>A n.218G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240871406G>T | CA273897 | AGXT | c.481G>T (p.Gly161Cys) n.501G>T n.218G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |