| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225663C>G | CA125507 | HBB | c.379G>C (p.Val127Leu) n.311G>C c.*195G>C (n.*195G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225663C>A | CA379273693 | HBB | c.379G>T (p.Val127Leu) n.311G>T c.*195G>T (n.*195G>T) | dbSNP |
| 11 | g.5225663C= | CA1949564751 | HBB | c.379G= (p.Val127=) n.311G= c.*195G= (n.*195G=) | dbSNP |