| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5234193C>T | CA124691 | HBD | c.113G>A (p.Trp38Ter) c.92+149G>A (n.92+149G>A) | ClinVar dbSNP |
| 11 | g.5234193C>G | CA379277123 | HBD | c.113G>C (p.Trp38Ser) c.92+149G>C (n.92+149G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5234193C= | CA1949565373 | HBD | c.113G= (p.Trp38=) c.92+149G= (n.92+149G=) | dbSNP |