| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112488454G>C | CA220131 | PTPN11 | c.1391G>C (p.Gly464Ala) n.56G>C c.1277G>C (p.Gly426Ala) c.1224+6249G>C (n.1224+6249G>C) n.635G>C n.600G>C c.1380-570G>C (n.1380-570G>C) c.1403G>C (p.Gly468Ala) c.404G>C (p.Gly135Ala) c.1289G>C (p.Gly430Ala) c.1400G>C (p.Gly467Ala) c.1388G>C (p.Gly463Ala) | ClinVar dbSNP |
| 12 | g.112488454G>A | CA386778160 | PTPN11 | c.1391G>A (p.Gly464Asp) n.56G>A c.1277G>A (p.Gly426Asp) c.1224+6249G>A (n.1224+6249G>A) n.635G>A n.600G>A c.1380-570G>A (n.1380-570G>A) c.1403G>A (p.Gly468Asp) c.404G>A (p.Gly135Asp) c.1289G>A (p.Gly430Asp) c.1400G>A (p.Gly467Asp) c.1388G>A (p.Gly463Asp) | dbSNP COSMIC |
| 12 | g.112488454G>T | CA386778175 | PTPN11 | c.1391G>T (p.Gly464Val) n.56G>T c.1277G>T (p.Gly426Val) c.1224+6249G>T (n.1224+6249G>T) n.635G>T n.600G>T c.1380-570G>T (n.1380-570G>T) c.1403G>T (p.Gly468Val) c.404G>T (p.Gly135Val) c.1289G>T (p.Gly430Val) c.1400G>T (p.Gly467Val) c.1388G>T (p.Gly463Val) | dbSNP |