| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226737G>C | CA125213 | HBB | c.155C>G (p.Pro52Arg) n.87C>G n.206C>G c.139C>G (p.Leu47Val) | ClinVar dbSNP |
| 11 | g.5226737G>T | CA217114329 | HBB | c.155C>A (p.Pro52His) n.87C>A n.206C>A c.139C>A (p.Leu47Met) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5226737G= | CA1949568993 | HBB | c.155C= (p.Pro52=) n.87C= n.206C= c.139C= (p.Leu47=) | dbSNP |
| 11 | g.5226737G>A | CA379274427 | HBB | c.155C>T (p.Pro52Leu) n.87C>T n.206C>T c.139C>T (p.Leu47=) | dbSNP gnomAD v4 COSMIC |