| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5232968T>A | CA5839884 | HBD | c.440A>T (p.His147Leu) c.316-170A>T (n.316-170A>T) c.217A>T (p.Ile73Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5232968T>C | CA124697 | HBD | c.440A>G (p.His147Arg) c.316-170A>G (n.316-170A>G) c.217A>G (p.Ile73Val) | ClinVar dbSNP |
| 11 | g.5232968T= | CA1949563492 | HBD | c.440A= (p.His147=) c.316-170A= (n.316-170A=) c.217A= (p.Ile73=) | dbSNP |