| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240869191G>C | CA275642 | AGXT | c.187G>C (p.Gly63Arg) n.207G>C n.405+1042C>G | ClinVar dbSNP |
| 2 | g.240869191G>A | CA351313392 | AGXT | c.187G>A (p.Gly63Ser) n.207G>A n.405+1042C>T | dbSNP |
| 2 | g.240869191G= | CA1339330930 | AGXT | c.187G= (p.Gly63=) n.207G= n.405+1042C= | dbSNP |