| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226962G>C | CA217115328 | HBB | c.60C>G (p.Asn20Lys) n.111C>G | dbSNP |
| 11 | g.5226962G>A | CA5839815 | HBB | c.60C>T (p.Asn20=) n.111C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5226962G>T | CA124826 | HBB | c.60C>A (p.Asn20Lys) n.111C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |