| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225657C>G | CA125498 | HBB | c.385G>C (p.Ala129Pro) n.317G>C c.*201G>C (n.*201G>C) | ClinVar dbSNP |
| 11 | g.5225657C>T | CA5839695 | HBB | c.385G>A (p.Ala129Thr) n.317G>A c.*201G>A (n.*201G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225657C= | CA1949564663 | HBB | c.385G= (p.Ala129=) n.317G= c.*201G= (n.*201G=) | dbSNP |