| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225662A>T | CA124912 | HBB | c.380T>A (p.Val127Glu) n.312T>A c.*196T>A (n.*196T>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225662A>C | CA125340 | HBB | c.380T>G (p.Val127Gly) n.312T>G c.*196T>G (n.*196T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225662A>G | CA124740 | HBB | c.380T>C (p.Val127Ala) n.312T>C c.*196T>C (n.*196T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |