| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225671G>T | CA125490 | HBB | c.371C>A (p.Thr124Asn) n.303C>A c.*187C>A (n.*187C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225671G>A | CA125227 | HBB | c.371C>T (p.Thr124Ile) n.303C>T c.*187C>T (n.*187C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225671G= | CA1949564832 | HBB | c.371C= (p.Thr124=) n.303C= c.*187C= (n.*187C=) | dbSNP |