| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214982225C>T | CA252477 | ABCA12 | c.4541G>A (p.Arg1514His) c.3587G>A (p.Arg1196His) n.4841G>A c.4550G>A (p.Arg1517His) n.5039G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.214982225C>A | CA350461705 | ABCA12 | c.4541G>T (p.Arg1514Leu) c.3587G>T (p.Arg1196Leu) n.4841G>T c.4550G>T (p.Arg1517Leu) n.5039G>T | dbSNP gnomAD v4 COSMIC |
| 2 | g.214982225C= | CA1327161848 | ABCA12 | c.4541G= (p.Arg1514=) c.3587G= (p.Arg1196=) n.4841G= c.4550G= (p.Arg1517=) n.5039G= | dbSNP |