| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21848201G>A | CA235870 | ABCC9 | c.2815C>T (p.Arg939Trp) n.392C>T c.*1913C>T (n.*1913C>T) n.2316C>T c.2764C>T (p.Arg922Trp) c.1696C>T (p.Arg566Trp) c.2776C>T (p.Arg926Trp) c.2674C>T (p.Arg892Trp) c.1948C>T (p.Arg650Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.21848201G>T | CA478871463 | ABCC9 | c.2815C>A (p.Arg939=) n.392C>A c.*1913C>A (n.*1913C>A) n.2316C>A c.2764C>A (p.Arg922=) c.1696C>A (p.Arg566=) c.2776C>A (p.Arg926=) c.2674C>A (p.Arg892=) c.1948C>A (p.Arg650=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |