| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5227003C>G | CA124989 | HBB | c.19G>C (p.Glu7Gln) n.70G>C | ClinVar dbSNP |
| 11 | g.5227003C>A | CA379274985 | HBB | c.19G>T (p.Glu7Ter) n.70G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.5227003C>T | CA124780 | HBB | c.19G>A (p.Glu7Lys) n.70G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5227003C= | CA1949571074 | HBB | c.19G= (p.Glu7=) n.70G= | dbSNP dbSNP |