| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226728A>T | CA125350 | HBB | c.164T>A (p.Val55Asp) n.96T>A n.215T>A c.148T>A (p.Leu50Ile) | ClinVar dbSNP |
| 11 | g.5226728A>G | CA379273916 | HBB | c.164T>C (p.Val55Ala) n.96T>C n.215T>C c.148T>C (p.Leu50=) | ClinVar dbSNP |
| 11 | g.5226728A= | CA1949568923 | HBB | c.164T= (p.Val55=) n.96T= n.215T= c.148T= (p.Leu50=) | dbSNP |