| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240871433G>A | CA343785 | AGXT | c.508G>A (p.Gly170Arg) n.528G>A n.245G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240871433G>C | CA68178405 | AGXT | c.508G>C (p.Gly170Arg) n.528G>C n.245G>C | ClinVar dbSNP |
| 2 | g.240871433G= | CA1339332124 | AGXT | c.508G= (p.Gly170=) n.528G= n.245G= | dbSNP |
| 2 | g.240871433G>T | CA351316118 | AGXT | c.508G>T (p.Gly170Trp) n.528G>T n.245G>T | dbSNP gnomAD v4 |