| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.87925524C>T | CA377785003 | PTEN | c.176C>T (p.Ser59Leu) n.911C>T c.165-5522C>T (n.165-5522C>T) c.10C>T c.*211C>T (n.*211C>T) c.*287C>T (n.*287C>T) c.45C>T c.695C>T (p.Ser232Leu) n.2C>T c.74C>T (p.Ser25Leu) c.-541-5522C>T (n.-541-5522C>T) c.80C>T (p.Ser27Leu) n.888C>T | dbSNP gnomAD v4 COSMIC |
| 10 | g.87925524C>G | CA16613155 | PTEN | c.176C>G (p.Ser59Ter) n.911C>G c.165-5522C>G (n.165-5522C>G) c.10C>G c.*211C>G (n.*211C>G) c.*287C>G (n.*287C>G) c.45C>G c.695C>G (p.Ser232Ter) n.2C>G c.74C>G (p.Ser25Ter) c.-541-5522C>G (n.-541-5522C>G) c.80C>G (p.Ser27Ter) n.888C>G | ClinVar dbSNP gnomAD v2 COSMIC |
| 10 | g.87925524C>A | CA377785002 | PTEN | c.176C>A (p.Ser59Ter) n.911C>A c.165-5522C>A (n.165-5522C>A) c.10C>A c.*211C>A (n.*211C>A) c.*287C>A (n.*287C>A) c.45C>A c.695C>A (p.Ser232Ter) n.2C>A c.74C>A (p.Ser25Ter) c.-541-5522C>A (n.-541-5522C>A) c.80C>A (p.Ser27Ter) n.888C>A | ClinVar dbSNP gnomAD v4 COSMIC |