Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.177105A>G | CA276416999 | HBA1 | c.272A>G (p.Lys91Arg) c.176A>G (p.Lys59Arg) n.408A>G n.241A>G | dbSNP |
16 | g.177105A>C | CA125783 | HBA1 | c.272A>C (p.Lys91Thr) c.176A>C (p.Lys59Thr) n.408A>C n.241A>C | ClinVar dbSNP gnomAD v4 |
16 | g.177105A>T | CA125749 | HBA1 | c.272A>T (p.Lys91Met) c.176A>T (p.Lys59Met) n.408A>T n.241A>T | ClinVar dbSNP |