| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177326C>T | CA125843 | HBA1 | c.344C>T (p.Pro115Leu) c.248C>T (p.Pro83Leu) n.480C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.177326C>G | CA125699 | HBA1 | c.344C>G (p.Pro115Arg) c.248C>G (p.Pro83Arg) n.480C>G | ClinVar dbSNP |
| 16 | g.177326C= | CA2200883265 | HBA1 | c.344C= (p.Pro115=) c.248C= (p.Pro83=) n.480C= | dbSNP |