| 11 | g.5232998C>T | CA124637 | HBD | c.410G>A (p.Gly137Asp)
c.316-200G>A (n.316-200G>A)
c.187G>A (p.Val63Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232998C= | CA1949563604 | HBD | c.410G= (p.Gly137=)
c.316-200G= (n.316-200G=)
c.187G= (p.Val63=)
| dbSNP |
