| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5227005G>C | CA125231 | HBB | c.17C>G (p.Pro6Arg) n.68C>G | ClinVar dbSNP |
| 11 | g.5227005G>A | CA217115542 | HBB | c.17C>T (p.Pro6Leu) n.68C>T | dbSNP COSMIC |
| 11 | g.5227005G>T | CA379274994 | HBB | c.17C>A (p.Pro6His) n.68C>A | dbSNP gnomAD v4 |
| 11 | g.5227005G= | CA1949571105 | HBB | c.17C= (p.Pro6=) n.68C= | dbSNP |