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 |