| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133256085A>T | CA5305779 | ABO | n.675T>A n.54-4933T>A c.28+19077T>A (n.28+19077T>A) n.657T>A c.643T>A (p.Phe215Ile) c.646T>A (p.Phe216Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256085A>C | CA375685781 | ABO | n.675T>G n.54-4933T>G c.28+19077T>G (n.28+19077T>G) n.657T>G c.643T>G (p.Phe215Val) c.646T>G (p.Phe216Val) | dbSNP |