| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5232765C>T | CA124679 | HBD | c.349G>A (p.Gly117Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5232765C>A | CA379276214 | HBD | c.349G>T (p.Gly117Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5232765C>G | CA379276215 | HBD | c.349G>C (p.Gly117Arg) | dbSNP |
| 11 | g.5232765C= | CA1949563051 | HBD | c.349G= (p.Gly117=) | dbSNP |