| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225678C>A | CA125263 | HBB | c.364G>T (p.Glu122Ter) n.296G>T c.*180G>T (n.*180G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225678C>G | CA124824 | HBB | c.364G>C (p.Glu122Gln) n.296G>C c.*180G>C (n.*180G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225678C>T | CA125070 | HBB | c.364G>A (p.Glu122Lys) n.296G>A c.*180G>A (n.*180G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |