| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5234080G>C | CA124687 | HBD | c.226C>G (p.Leu76Val) c.92+262C>G (n.92+262C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234080G= | CA1949565100 | HBD | c.226C= (p.Leu76=) c.92+262C= (n.92+262C=) | dbSNP |
| 11 | g.5234080G>A | CA472885971 | HBD | c.226C>T (p.Leu76=) c.92+262C>T (n.92+262C>T) | dbSNP gnomAD v4 |