| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5232980G>T | CA124643 | HBD | c.428C>A (p.Ala143Asp) c.316-182C>A (n.316-182C>A) c.205C>A (p.Leu69Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5232980G>A | CA379276398 | HBD | c.428C>T (p.Ala143Val) c.316-182C>T (n.316-182C>T) c.205C>T (p.Leu69Phe) | dbSNP gnomAD v2 gnomAD v4 |