| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226743G>A | CA124995 | HBB | c.149C>T (p.Ser50Phe) n.81C>T n.200C>T c.133C>T (p.Pro45Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5226743G>C | CA125514 | HBB | c.149C>G (p.Ser50Cys) n.81C>G n.200C>G c.133C>G (p.Pro45Ala) | ClinVar dbSNP |
| 11 | g.5226743G= | CA1949569032 | HBB | c.149C= (p.Ser50=) n.81C= n.200C= c.133C= (p.Pro45=) | dbSNP |