| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5234026A>T | CA379276784 | HBD | c.280T>A (p.Cys94Ser) c.92+316T>A (n.92+316T>A) | dbSNP |
| 11 | g.5234026A>C | CA124693 | HBD | c.280T>G (p.Cys94Gly) c.92+316T>G (n.92+316T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234026A= | CA1949564955 | HBD | c.280T= (p.Cys94=) c.92+316T= (n.92+316T=) | dbSNP |