| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5234098C>G | CA124649 | HBD | c.208G>C (p.Gly70Arg) c.92+244G>C (n.92+244G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5234098C>T | CA217123923 | HBD | c.208G>A (p.Gly70Ser) c.92+244G>A (n.92+244G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234098C= | CA1949565162 | HBD | c.208G= (p.Gly70=) c.92+244G= (n.92+244G=) | dbSNP |