| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219218166T>C | CA144712 | ABCB6,ATG9A | c.508A>G (p.Ser170Gly) c.189A>G c.261A>G c.3047A>G c.311A>G c.25A>G (p.Ser9Gly) | ClinVar dbSNP |
| 2 | g.219218166T= | CA1329115464 | ABCB6,ATG9A | c.508A= (p.Ser170=) c.189A= c.261A= c.3047A= c.311A= c.25A= (p.Ser9=) | dbSNP |