| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240871444C>A | CA275704 | AGXT | c.519C>A (p.Cys173Ter) n.539C>A n.256C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.240871444C>T | CA2209107 | AGXT | c.519C>T (p.Cys173=) n.539C>T n.256C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240871444C>G | CA2209106 | AGXT | c.519C>G (p.Cys173Trp) n.539C>G n.256C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |