| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112488445C>G | CA284665 | PTPN11 | c.1382C>G (p.Ala461Gly) n.47C>G c.1268C>G (p.Ala423Gly) c.1224+6240C>G (n.1224+6240C>G) n.626C>G n.591C>G c.1380-579C>G (n.1380-579C>G) c.1394C>G (p.Ala465Gly) c.395C>G (p.Ala132Gly) c.1280C>G (p.Ala427Gly) c.1391C>G (p.Ala464Gly) c.1379C>G (p.Ala460Gly) | ClinVar dbSNP COSMIC |
| 12 | g.112488445C>T | CA386778105 | PTPN11 | c.1382C>T (p.Ala461Val) n.47C>T c.1268C>T (p.Ala423Val) c.1224+6240C>T (n.1224+6240C>T) n.626C>T n.591C>T c.1380-579C>T (n.1380-579C>T) c.1394C>T (p.Ala465Val) c.395C>T (p.Ala132Val) c.1280C>T (p.Ala427Val) c.1391C>T (p.Ala464Val) c.1379C>T (p.Ala460Val) | ClinVar dbSNP |