| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5234132G>A | CA5839947 | HBD | c.174C>T (p.Asn58=) c.92+210C>T (n.92+210C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234132G>T | CA124701 | HBD | c.174C>A (p.Asn58Lys) c.92+210C>A (n.92+210C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234132G= | CA1949565229 | HBD | c.174C= (p.Asn58=) c.92+210C= (n.92+210C=) | dbSNP |