| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44812319C>T | CA114292 | BCAM | c.361C>T (p.Arg121Ter) c.298C>T (p.Arg100Ter) n.356C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44812319C= | CA2338120149 | BCAM | c.361C= (p.Arg121=) c.298C= (p.Arg100=) n.356C= | dbSNP |
| 19 | g.44812319C>G | CA406314285 | BCAM | c.361C>G (p.Arg121Gly) c.298C>G (p.Arg100Gly) n.356C>G | dbSNP gnomAD v4 |