| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240869357G>C | CA2209057 | AGXT | c.353G>C (p.Arg118Pro) n.373G>C n.405+876C>G | ClinVar dbSNP ExAC |
| 2 | g.240869357G>A | CA275679 | AGXT | c.353G>A (p.Arg118His) n.373G>A n.405+876C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.240869357G= | CA1339331022 | AGXT | c.353G= (p.Arg118=) n.373G= n.405+876C= | dbSNP |