| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.230995876G>A | CA186075 | ARV1 | c.565G>A (p.Gly189Arg) c.445G>A (p.Gly149Arg) c.624G>A c.555G>A c.117G>A c.493G>A (p.Gly165Arg) n.930G>A n.596G>A c.664G>A (p.Gly222Arg) n.622G>A c.688G>A (p.Gly230Arg) n.712G>A n.577G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230995876G= | CA1148225989 | ARV1 | c.565G= (p.Gly189=) c.445G= (p.Gly149=) c.624G= c.555G= c.117G= c.493G= (p.Gly165=) n.930G= n.596G= c.664G= (p.Gly222=) n.622G= c.688G= (p.Gly230=) n.712G= n.577G= | dbSNP |