| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5234426T>A | CA217124417 | HBD | c.8A>T (p.His3Leu) | dbSNP |
| 11 | g.5234426T>G | CA379277330 | HBD | c.8A>C (p.His3Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5234426T>C | CA124659 | HBD | c.8A>G (p.His3Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5234426T= | CA1949565906 | HBD | c.8A= (p.His3=) | dbSNP |