| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214937608G>A | CA2090634 | ABCA12,SNHG31 | c.7444C>T (p.Arg2482Ter) c.6490C>T (p.Arg2164Ter) n.7744C>T n.322-10217G>A c.7453C>T (p.Arg2485Ter) n.7942C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.214937608G= | CA1327142819 | ABCA12,SNHG31 | c.7444C= (p.Arg2482=) c.6490C= (p.Arg2164=) n.7744C= n.322-10217G= c.7453C= (p.Arg2485=) n.7942C= | dbSNP |