| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.32997307T>C | CA114671 | GLB1 | c.1772A>G (p.Tyr591Cys) c.1379A>G (p.Tyr460Cys) c.1682A>G (p.Tyr561Cys) c.1916A>G (p.Tyr639Cys) c.1734+16749A>G (n.1734+16749A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.32997307T>G | CA72667244 | GLB1 | c.1772A>C (p.Tyr591Ser) c.1379A>C (p.Tyr460Ser) c.1682A>C (p.Tyr561Ser) c.1916A>C (p.Tyr639Ser) c.1734+16749A>C (n.1734+16749A>C) | ClinVar dbSNP |
| 3 | g.32997307T= | CA1355976981 | GLB1 | c.1772A= (p.Tyr591=) c.1379A= (p.Tyr460=) c.1682A= (p.Tyr561=) c.1916A= (p.Tyr639=) c.1734+16749A= (n.1734+16749A=) | dbSNP |