| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5233059G>C | CA5839898 | HBD | c.349C>G (p.Arg117Gly) c.316-261C>G (n.316-261C>G) c.126C>G (p.Pro42=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5233059G>A | CA124675 | HBD | c.349C>T (p.Arg117Cys) c.316-261C>T (n.316-261C>T) c.126C>T (p.Pro42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |