| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112477651T>A | CA297085 | PTPN11 | c.854T>A (p.Phe285Tyr) c.740T>A (p.Phe247Tyr) c.851T>A (p.Phe284Tyr) | ClinVar dbSNP |
| 12 | g.112477651T>G | CA261603 | PTPN11 | c.854T>G (p.Phe285Cys) c.740T>G (p.Phe247Cys) c.851T>G (p.Phe284Cys) | ClinVar dbSNP |
| 12 | g.112477651T>C | CA204408 | PTPN11 | c.854T>C (p.Phe285Ser) c.740T>C (p.Phe247Ser) c.851T>C (p.Phe284Ser) | ClinVar dbSNP COSMIC |