| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254409C>A | CA217121305 | HBG2 | c.198G>T (p.Lys66Asn) c.33G>T (p.Lys11Asn) c.1744G>T (n.1744G>T) c.168G>T (p.Lys56Asn) c.*67G>T (n.*67G>T) c.157C>A (p.Leu53Ile) | dbSNP |
| 11 | g.5254409C>G | CA124502 | HBG2 | c.198G>C (p.Lys66Asn) c.33G>C (p.Lys11Asn) c.1744G>C (n.1744G>C) c.168G>C (p.Lys56Asn) c.*67G>C (n.*67G>C) c.157C>G (p.Leu53Val) | ClinVar dbSNP gnomAD v4 |