| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225677T>A | CA124748 | HBB | c.365A>T (p.Glu122Val) n.297A>T c.*181A>T (n.*181A>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.5225677T>C | CA125362 | HBB | c.365A>G (p.Glu122Gly) n.297A>G c.*181A>G (n.*181A>G) | ClinVar dbSNP |
| 11 | g.5225677T>G | CA125410 | HBB | c.365A>C (p.Glu122Ala) n.297A>C c.*181A>C (n.*181A>C) | ClinVar dbSNP |