| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240868897C>T | CA200272 | AGXT | c.32C>T (p.Pro11Leu) n.52C>T n.405+1336G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240868897C>G | CA275621 | AGXT | c.32C>G (p.Pro11Arg) n.52C>G n.405+1336G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240868897C>A | CA275544 | AGXT | c.32C>A (p.Pro11His) n.52C>A n.405+1336G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |