| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219210036G>C | CA129261 | ABCB6,ATG9A | c.2431C>G (p.Leu811Val) c.2293C>G (p.Leu765Val) c.1974C>G c.419C>G c.4981C>G n.698C>G n.504C>G n.2744C>G | ClinVar dbSNP |
| 2 | g.219210036G= | CA1329111501 | ABCB6,ATG9A | c.2431C= (p.Leu811=) c.2293C= (p.Leu765=) c.1974C= c.419C= c.4981C= n.698C= n.504C= n.2744C= | dbSNP |