| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225601G>C | CA125513 | HBB | c.441C>G (p.His147Gln) c.*257C>G (n.*257C>G) | ClinVar dbSNP |
| 11 | g.5225601G>T | CA125360 | HBB | c.441C>A (p.His147Gln) c.*257C>A (n.*257C>A) | ClinVar dbSNP |
| 11 | g.5225601G= | CA1949564056 | HBB | c.441C= (p.His147=) c.*257C= (n.*257C=) | dbSNP |
| 11 | g.5225601G>A | CA472638257 | HBB | c.441C>T (p.His147=) c.*257C>T (n.*257C>T) | dbSNP gnomAD v4 |