| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133255928C>A | CA375685067 | ABO | n.832G>T n.54-4776G>T c.28+19234G>T (n.28+19234G>T) n.814G>T c.800G>T (p.Gly267Val) c.803G>T (p.Gly268Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133255928C>G | CA040524 | ABO | n.832G>C n.54-4776G>C c.28+19234G>C (n.28+19234G>C) n.814G>C c.800G>C (p.Gly267Ala) c.803G>C (p.Gly268Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |