| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225675A>C | CA217112599 | HBB | c.367T>G (p.Phe123Val) n.299T>G c.*183T>G (n.*183T>G) | dbSNP |
| 11 | g.5225675A>G | CA125484 | HBB | c.367T>C (p.Phe123Leu) n.299T>C c.*183T>C (n.*183T>C) | ClinVar dbSNP |
| 11 | g.5225675A>T | CA217112611 | HBB | c.367T>A (p.Phe123Ile) n.299T>A c.*183T>A (n.*183T>A) | dbSNP |