| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133256205G>C | CA5305815 | ABO | n.555C>G n.54-5053C>G n.481C>G c.28+18957C>G (n.28+18957C>G) n.537C>G c.523C>G (p.Arg175Gly) c.526C>G (p.Arg176Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256205G>A | CA5305816 | ABO | n.555C>T n.54-5053C>T n.481C>T c.28+18957C>T (n.28+18957C>T) n.537C>T c.523C>T (p.Arg175Cys) c.526C>T (p.Arg176Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256205G= | CA1882580643 | ABO | n.555C= n.54-5053C= n.481C= c.28+18957C= (n.28+18957C=) n.537C= c.523C= (p.Arg175=) c.526C= (p.Arg176=) | ClinVar dbSNP |