| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112450397A>C | CA282079 | PTPN11 | c.217A>C (p.Thr73Pro) c.214A>C (p.Thr72Pro) | ClinVar dbSNP |
| 12 | g.112450397A>T | CA386777860 | PTPN11 | c.217A>T (p.Thr73Ser) c.214A>T (p.Thr72Ser) | dbSNP |
| 12 | g.112450397A= | CA2063740214 | PTPN11 | c.217A= (p.Thr73=) c.214A= (p.Thr72=) | dbSNP |
| 12 | g.112450397A>G | CA386777857 | PTPN11 | c.217A>G (p.Thr73Ala) c.214A>G (p.Thr72Ala) | ClinVar dbSNP gnomAD v4 |