| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112472989G>A | CA261594 | PTPN11 | c.802G>A (p.Gly268Ser) c.688G>A (p.Gly230Ser) c.799G>A (p.Gly267Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112472989G>C | CA386788724 | PTPN11 | c.802G>C (p.Gly268Arg) c.688G>C (p.Gly230Arg) c.799G>C (p.Gly267Arg) | dbSNP |
| 12 | g.112472989G>T | CA261597 | PTPN11 | c.802G>T (p.Gly268Cys) c.688G>T (p.Gly230Cys) c.799G>T (p.Gly267Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112472989G= | CA2063770265 | PTPN11 | c.802G= (p.Gly268=) c.688G= (p.Gly230=) c.799G= (p.Gly267=) | dbSNP |