| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254292C>G | CA124564 | HBG2 | c.315G>C (p.Lys105Asn) c.150G>C (p.Lys50Asn) c.285G>C (p.Lys95Asn) c.*184G>C (n.*184G>C) c.43-3C>G (n.43-3C>G) | ClinVar dbSNP |
| 11 | g.5254292C= | CA1949577206 | HBG2 | c.315G= (p.Lys105=) c.150G= (p.Lys50=) c.285G= (p.Lys95=) c.*184G= (n.*184G=) c.43-3C= (n.43-3C=) | dbSNP |