| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219213310C>T | CA144713 | ABCB6,ATG9A | c.1736G>A (p.Gly579Glu) c.1598G>A (p.Gly533Glu) c.1279G>A c.4461G>A c.812G>A n.111G>A n.2049G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.219213310C= | CA1329114191 | ABCB6,ATG9A | c.1736G= (p.Gly579=) c.1598G= (p.Gly533=) c.1279G= c.4461G= c.812G= n.111G= n.2049G= | dbSNP |