| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5234151G>C | CA124635 | HBD | c.155C>G (p.Pro52Arg) c.92+191C>G (n.92+191C>G) | ClinVar dbSNP |
| 11 | g.5234151G>A | CA379277036 | HBD | c.155C>T (p.Pro52Leu) c.92+191C>T (n.92+191C>T) | dbSNP gnomAD v4 |
| 11 | g.5234151G= | CA1949565277 | HBD | c.155C= (p.Pro52=) c.92+191C= (n.92+191C=) | dbSNP |