| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240877534C>G | CA275809 | AGXT | c.847-3C>G (n.847-3C>G) n.622C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240877534C>A | CA68180578 | AGXT | c.847-3C>A (n.847-3C>A) n.622C>A | dbSNP gnomAD v4 |
| 2 | g.240877534C>T | CA2209324 | AGXT | c.847-3C>T (n.847-3C>T) n.622C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |