| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5227006G>C | CA217115556 | HBB | c.16C>G (p.Pro6Ala) n.67C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5227006G>A | CA125420 | HBB | c.16C>T (p.Pro6Ser) n.67C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5227006G= | CA1949571122 | HBB | c.16C= (p.Pro6=) n.67C= | dbSNP |