| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240868893C>A | CA2208963 | AGXT | c.28C>A (p.Pro10Thr) n.48C>A n.405+1340G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240868893C>G | CA2208964 | AGXT | c.28C>G (p.Pro10Ala) n.48C>G n.405+1340G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240868893C>T | CA275619 | AGXT | c.28C>T (p.Pro10Ser) n.48C>T n.405+1340G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |