| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.176946C>T | CA276416673 | HBA1 | c.113C>T (p.Pro38Leu) c.17C>T (p.Pro6Leu) n.249C>T n.82C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.176946C>G | CA125686 | HBA1 | c.113C>G (p.Pro38Arg) c.17C>G (p.Pro6Arg) n.249C>G n.82C>G | ClinVar dbSNP |
| 16 | g.176946C= | CA2200882986 | HBA1 | c.113C= (p.Pro38=) c.17C= (p.Pro6=) n.249C= n.82C= | dbSNP |