| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219210799C>T | CA212652 | ABCB6,ATG9A | c.2168G>A (p.Arg723Gln) c.2030G>A (p.Arg677Gln) c.1711G>A c.156G>A c.4718G>A n.200G>A n.241G>A n.718G>A n.2481G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219210799C= | CA1329111913 | ABCB6,ATG9A | c.2168G= (p.Arg723=) c.2030G= (p.Arg677=) c.1711G= c.156G= c.4718G= n.200G= n.241G= n.718G= n.2481G= | dbSNP |