| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225615C>G | CA125211 | HBB | c.427G>C (p.Ala143Pro) c.*243G>C (n.*243G>C) | ClinVar dbSNP |
| 11 | g.5225615C>T | CA217112293 | HBB | c.427G>A (p.Ala143Thr) c.*243G>A (n.*243G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225615C= | CA1949564247 | HBB | c.427G= (p.Ala143=) c.*243G= (n.*243G=) | dbSNP |