| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225668G>C | CA124981 | HBB | c.374C>G (p.Pro125Arg) n.306C>G c.*190C>G (n.*190C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225668G>A | CA125462 | HBB | c.374C>T (p.Pro125Leu) n.306C>T c.*190C>T (n.*190C>T) | ClinVar dbSNP |
| 11 | g.5225668G>T | CA125219 | HBB | c.374C>A (p.Pro125Gln) n.306C>A c.*190C>A (n.*190C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225668G= | CA1949564803 | HBB | c.374C= (p.Pro125=) n.306C= c.*190C= (n.*190C=) | dbSNP |