| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133256031G>C | CA127357 | ABO | n.729C>G n.54-4879C>G c.28+19131C>G (n.28+19131C>G) n.711C>G c.697C>G (p.Pro233Ala) c.700C>G (p.Pro234Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133256031G= | CA1882580201 | ABO | n.729C= n.54-4879C= c.28+19131C= (n.28+19131C=) n.711C= c.697C= (p.Pro233=) c.700C= (p.Pro234=) | dbSNP |
| 9 | g.133256031G>A | CA375685507 | ABO | n.729C>T n.54-4879C>T c.28+19131C>T (n.28+19131C>T) n.711C>T c.697C>T (p.Pro233Ser) c.700C>T (p.Pro234Ser) | dbSNP gnomAD v4 |