| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5234011C>T | CA124663 | HBD | c.295G>A (p.Val99Met) c.92+331G>A (n.92+331G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5234011C= | CA1949564903 | HBD | c.295G= (p.Val99=) c.92+331G= (n.92+331G=) | dbSNP |
| 11 | g.5234011C>G | CA379276751 | HBD | c.295G>C (p.Val99Leu) c.92+331G>C (n.92+331G>C) | dbSNP gnomAD v4 |