| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44812188G>A | CA114284 | BCAM | c.230G>A (p.Arg77His) c.205-38G>A (n.205-38G>A) n.225G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44812188G>C | CA9504299 | BCAM | c.230G>C (p.Arg77Pro) c.205-38G>C (n.205-38G>C) n.225G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44812188G= | CA2338120296 | BCAM | c.230G= (p.Arg77=) c.205-38G= (n.205-38G=) n.225G= | dbSNP |