| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225610G>T | CA217112246 | HBB | c.432C>A (p.His144Gln) c.*248C>A (n.*248C>A) | dbSNP COSMIC |
| 11 | g.5225610G>C | CA217112242 | HBB | c.432C>G (p.His144Gln) c.*248C>G (n.*248C>G) | dbSNP |
| 11 | g.5225610G>A | CA342872 | HBB | c.432C>T (p.His144=) c.*248C>T (n.*248C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225610G= | CA1949564183 | HBB | c.432C= (p.His144=) c.*248C= (n.*248C=) | dbSNP |