| 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 |
| 11 | g.5233059G>T | CA379276608 | HBD | c.349C>A (p.Arg117Ser) c.316-261C>A (n.316-261C>A) c.126C>A (p.Pro42=) | dbSNP |
| 11 | g.5233059G= | CA1949563709 | HBD | c.349C= (p.Arg117=) c.316-261C= (n.316-261C=) c.126C= (p.Pro42=) | dbSNP |