Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112473023A>G | CA220149 | PTPN11 | c.836A>G (p.Tyr279Cys) c.722A>G (p.Tyr241Cys) c.833A>G (p.Tyr278Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.112473023A>C | CA344998 | PTPN11 | c.836A>C (p.Tyr279Ser) c.722A>C (p.Tyr241Ser) c.833A>C (p.Tyr278Ser) | ClinVar dbSNP |
12 | g.112473023A= | CA2063770339 | PTPN11 | c.836A= (p.Tyr279=) c.722A= (p.Tyr241=) c.833A= (p.Tyr278=) | dbSNP |