| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112489078G>A | CA261549 | PTPN11 | c.1502G>A (p.Arg501Lys) n.167G>A c.1388G>A (p.Arg463Lys) c.1224+6873G>A (n.1224+6873G>A) n.746G>A n.711G>A c.*48G>A (n.*48G>A) c.1514G>A (p.Arg505Lys) c.515G>A (p.Arg172Lys) c.1400G>A (p.Arg467Lys) c.1511G>A (p.Arg504Lys) c.1499G>A (p.Arg500Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112489078G= | CA2063740970 | PTPN11 | c.1502G= (p.Arg501=) n.167G= c.1388G= (p.Arg463=) c.1224+6873G= (n.1224+6873G=) n.746G= n.711G= c.*48G= (n.*48G=) c.1514G= (p.Arg505=) c.515G= (p.Arg172=) c.1400G= (p.Arg467=) c.1511G= (p.Arg504=) c.1499G= (p.Arg500=) | dbSNP |