| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219216028G>A | CA212651 | ABCB6,ATG9A | c.1123C>T (p.Arg375Trp) c.985C>T (p.Arg329Trp) c.666C>T c.542+336C>T c.3848C>T c.353-1530C>T c.459C>T (n.459C>T) n.261C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.219216028G= | CA1329114432 | ABCB6,ATG9A | c.1123C= (p.Arg375=) c.985C= (p.Arg329=) c.666C= c.542+336C= c.3848C= c.353-1530C= c.459C= (n.459C=) n.261C= | dbSNP dbSNP |