| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177111G>T | CA125697 | HBA1 | c.278G>T (p.Arg93Leu) c.182G>T (p.Arg61Leu) n.414G>T n.247G>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.177111G>C | CA276417011 | HBA1 | c.278G>C (p.Arg93Pro) c.182G>C (p.Arg61Pro) n.414G>C n.247G>C | dbSNP gnomAD v4 |
| 16 | g.177111G>A | CA125771 | HBA1 | c.278G>A (p.Arg93Gln) c.182G>A (p.Arg61Gln) n.414G>A n.247G>A | ClinVar dbSNP |