| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177325C>A | CA393995875 | HBA1 | c.343C>A (p.Pro115Thr) c.247C>A (p.Pro83Thr) n.479C>A | dbSNP gnomAD v4 |
| 16 | g.177325C>G | CA276417150 | HBA1 | c.343C>G (p.Pro115Ala) c.247C>G (p.Pro83Ala) n.479C>G | dbSNP gnomAD v4 |
| 16 | g.177325C>T | CA125963 | HBA1 | c.343C>T (p.Pro115Ser) c.247C>T (p.Pro83Ser) n.479C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.177325C= | CA2200883264 | HBA1 | c.343C= (p.Pro115=) c.247C= (p.Pro83=) n.479C= | dbSNP |