| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112489092C>G | CA386779877 | PTPN11 | c.1516C>G (p.Gln506Glu) n.181C>G c.1402C>G (p.Gln468Glu) c.1224+6887C>G (n.1224+6887C>G) n.760C>G n.725C>G c.*62C>G (n.*62C>G) c.1528C>G (p.Gln510Glu) c.529C>G (p.Gln177Glu) c.1414C>G (p.Gln472Glu) c.1525C>G (p.Gln509Glu) c.1513C>G (p.Gln505Glu) | dbSNP |
| 12 | g.112489092C>A | CA386779876 | PTPN11 | c.1516C>A (p.Gln506Lys) n.181C>A c.1402C>A (p.Gln468Lys) c.1224+6887C>A (n.1224+6887C>A) n.760C>A n.725C>A c.*62C>A (n.*62C>A) c.1528C>A (p.Gln510Lys) c.529C>A (p.Gln177Lys) c.1414C>A (p.Gln472Lys) c.1525C>A (p.Gln509Lys) c.1513C>A (p.Gln505Lys) | dbSNP |
| 12 | g.112489092C>T | CA129800 | PTPN11 | c.1516C>T (p.Gln506Ter) n.181C>T c.1402C>T (p.Gln468Ter) c.1224+6887C>T (n.1224+6887C>T) n.760C>T n.725C>T c.*62C>T (n.*62C>T) c.1528C>T (p.Gln510Ter) c.529C>T (p.Gln177Ter) c.1414C>T (p.Gln472Ter) c.1525C>T (p.Gln509Ter) c.1513C>T (p.Gln505Ter) | ClinVar dbSNP |