| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.145925920G>A | CA342738 | RBM8A | c.487C>T (p.Arg163Ter) n.846C>T c.484C>T (p.Arg162Ter) c.282C>T n.405C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.145925920G= | CA1144228958 | RBM8A | c.487C= (p.Arg163=) n.846C= c.484C= (p.Arg162=) c.282C= n.405C= | dbSNP |
| 1 | g.145925920G>C | CA342126755 | RBM8A | c.487C>G (p.Arg163Gly) n.846C>G c.484C>G (p.Arg162Gly) c.282C>G n.405C>G | dbSNP gnomAD v4 |