Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.176736A>T | CA125721 | HBA1 | c.20A>T (p.Asp7Val) c.-28A>T (n.-28A>T) n.39A>T | ClinVar dbSNP |
16 | g.176736A>C | CA125877 | HBA1 | c.20A>C (p.Asp7Ala) c.-28A>C (n.-28A>C) n.39A>C | ClinVar dbSNP |
16 | g.176736A>G | CA125903 | HBA1 | c.20A>G (p.Asp7Gly) c.-28A>G (n.-28A>G) n.39A>G | ClinVar dbSNP gnomAD v4 |