| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225683C>T | CA037352 | HBB | c.359G>A (p.Gly120Asp) n.291G>A c.*175G>A (n.*175G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225683C>A | CA124746 | HBB | c.359G>T (p.Gly120Val) n.291G>T c.*175G>T (n.*175G>T) | ClinVar dbSNP |
| 11 | g.5225683C>G | CA125341 | HBB | c.359G>C (p.Gly120Ala) n.291G>C c.*175G>C (n.*175G>C) | ClinVar dbSNP gnomAD v4 |