| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5227020A>C | CA125299 | HBB | c.2T>G (p.Met1Arg) n.53T>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227020A>T | CA217115650 | HBB | c.2T>A (p.Met1Lys) n.53T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227020A>G | CA125301 | HBB | c.2T>C (p.Met1Thr) n.53T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227020A= | CA1949571301 | HBB | c.2T= (p.Met1=) n.53T= | dbSNP |