| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44813527C>G | CA406316475 | BCAM | c.691C>G (p.Arg231Gly) c.628C>G (p.Arg210Gly) n.289C>G c.90C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44813527C>T | CA114288 | BCAM | c.691C>T (p.Arg231Ter) c.628C>T (p.Arg210Ter) n.289C>T c.90C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44813527C>A | CA507946514 | BCAM | c.691C>A (p.Arg231=) c.628C>A (p.Arg210=) n.289C>A c.90C>A | dbSNP gnomAD v4 |
| 19 | g.44813527C= | CA2338120912 | BCAM | c.691C= (p.Arg231=) c.628C= (p.Arg210=) n.289C= c.90C= | dbSNP |