| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33051791A>G | CA150630 | GLB1 | c.922T>C (p.Phe308Leu) c.529T>C (p.Phe177Leu) c.832T>C (p.Phe278Leu) c.445T>C (p.Phe149Leu) n.297T>C n.325T>C n.448T>C c.1066T>C (p.Phe356Leu) | ClinVar dbSNP |
| 3 | g.33051791A= | CA1356000965 | GLB1 | c.922T= (p.Phe308=) c.529T= (p.Phe177=) c.832T= (p.Phe278=) c.445T= (p.Phe149=) n.297T= n.325T= n.448T= c.1066T= (p.Phe356=) | dbSNP |