| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240875126G>C | CA2209211 | AGXT | c.698G>C (p.Arg233Pro) n.350G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.240875126G>T | CA275732 | AGXT | c.698G>T (p.Arg233Leu) n.350G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.240875126G>A | CA253545 | AGXT | c.698G>A (p.Arg233His) n.350G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |