| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5253360T>G | CA124498 | HBG2 | c.361A>C (p.Lys121Gln) c.196A>C (p.Lys66Gln) c.315+932A>C (n.315+932A>C) c.331A>C (p.Lys111Gln) | ClinVar dbSNP |
| 11 | g.5253360T= | CA1949575503 | HBG2 | c.361A= (p.Lys121=) c.196A= (p.Lys66=) c.315+932A= (n.315+932A=) c.331A= (p.Lys111=) | dbSNP |