Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.176947del | CA718606357 | HBA1 | c.114del (p.Thr39ProfsTer11) c.18del (p.Thr7ProfsTer11) n.250del n.83del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.176945_176947del | CA276416661 | HBA1 | c.112_114del (p.Pro38del) c.16_18del (p.Pro6del) n.248_250del n.81_83del | dbSNP |