| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.87925529C>A | CA377785012 | PTEN | c.181C>A (p.His61Asn) n.916C>A c.165-5517C>A (n.165-5517C>A) c.15C>A c.*216C>A (n.*216C>A) c.*292C>A (n.*292C>A) c.50C>A c.700C>A (p.His234Asn) n.7C>A c.79C>A (p.His27Asn) c.-541-5517C>A (n.-541-5517C>A) c.85C>A (p.His29Asn) n.893C>A | ClinVar dbSNP gnomAD v4 |
| 10 | g.87925529C>G | CA000330 | PTEN | c.181C>G (p.His61Asp) n.916C>G c.165-5517C>G (n.165-5517C>G) c.15C>G c.*216C>G (n.*216C>G) c.*292C>G (n.*292C>G) c.50C>G c.700C>G (p.His234Asp) n.7C>G c.79C>G (p.His27Asp) c.-541-5517C>G (n.-541-5517C>G) c.85C>G (p.His29Asp) n.893C>G | ClinVar dbSNP |
| 10 | g.87925529C= | CA1926162820 | PTEN | c.181C= (p.His61=) n.916C= c.165-5517C= (n.165-5517C=) c.15C= c.*216C= (n.*216C=) c.*292C= (n.*292C=) c.50C= c.700C= (p.His234=) n.7C= c.79C= (p.His27=) c.-541-5517C= (n.-541-5517C=) c.85C= (p.His29=) n.893C= | dbSNP |