Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.176735G>T | CA125925 | HBA1 | c.19G>T (p.Asp7Tyr) c.-29G>T (n.-29G>T) n.38G>T | ClinVar dbSNP gnomAD v4 |
16 | g.176735G>A | CA125717 | HBA1 | c.19G>A (p.Asp7Asn) c.-29G>A (n.-29G>A) n.38G>A | ClinVar dbSNP gnomAD v4 |
16 | g.176735G>C | CA276416417 | HBA1 | c.19G>C (p.Asp7His) c.-29G>C (n.-29G>C) n.38G>C | ClinVar dbSNP |