Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5227013A>G | CA200319 | HBB | c.9T>C (p.His3=) n.60T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5227013A>T | CA125078 | HBB | c.9T>A (p.His3Gln) n.60T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5227013A>C | CA217115595 | HBB | c.9T>G (p.His3Gln) n.60T>G | dbSNP gnomAD v4 |