| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44813547C>A | CA114290 | BCAM | c.711C>A (p.Cys237Ter) c.648C>A (p.Cys216Ter) n.309C>A c.110C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.44813547C>T | CA9504504 | BCAM | c.711C>T (p.Cys237=) c.648C>T (p.Cys216=) n.309C>T c.110C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44813547C= | CA2338120923 | BCAM | c.711C= (p.Cys237=) c.648C= (p.Cys216=) n.309C= c.110C= | dbSNP |