| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.32997308A>T | CA114669 | GLB1 | c.1771T>A (p.Tyr591Asn) c.1378T>A (p.Tyr460Asn) c.1681T>A (p.Tyr561Asn) c.1915T>A (p.Tyr639Asn) c.1734+16748T>A (n.1734+16748T>A) | ClinVar dbSNP |
| 3 | g.32997308A>G | CA2299298 | GLB1 | c.1771T>C (p.Tyr591His) c.1378T>C (p.Tyr460His) c.1681T>C (p.Tyr561His) c.1915T>C (p.Tyr639His) c.1734+16748T>C (n.1734+16748T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |