| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5227002T>C | CA217115521 | HBB | c.20A>G (p.Glu7Gly) n.71A>G | dbSNP |
| 11 | g.5227002T>G | CA124861 | HBB | c.20A>C (p.Glu7Ala) n.71A>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227002T>A | CA125138 | HBB | c.20A>T (p.Glu7Val) n.71A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5227002T= | CA1949571050 | HBB | c.20A= (p.Glu7=) n.71A= | dbSNP dbSNP |