| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219216027C>T | CA212650 | ABCB6,ATG9A | c.1124G>A (p.Arg375Gln) c.986G>A (p.Arg329Gln) c.667G>A c.542+337G>A c.3849G>A c.353-1529G>A c.460G>A (n.460G>A) n.262G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219216027C= | CA1329114430 | ABCB6,ATG9A | c.1124G= (p.Arg375=) c.986G= (p.Arg329=) c.667G= c.542+337G= c.3849G= c.353-1529G= c.460G= (n.460G=) n.262G= | dbSNP |