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 |