| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240878128G>T | CA2209388 | AGXT | c.1049G>T (p.Gly350Val) n.827G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240878128G>A | CA274217 | AGXT | c.1049G>A (p.Gly350Asp) n.827G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240878128G= | CA1339335804 | AGXT | c.1049G= (p.Gly350=) n.827G= | dbSNP |