| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112488466C>T | CA220134 | PTPN11 | c.1403C>T (p.Thr468Met) n.68C>T c.1289C>T (p.Thr430Met) c.1224+6261C>T (n.1224+6261C>T) n.647C>T n.612C>T c.1380-558C>T (n.1380-558C>T) c.1415C>T (p.Thr472Met) c.416C>T (p.Thr139Met) c.1301C>T (p.Thr434Met) c.1412C>T (p.Thr471Met) c.1400C>T (p.Thr467Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112488466C>G | CA386778248 | PTPN11 | c.1403C>G (p.Thr468Arg) n.68C>G c.1289C>G (p.Thr430Arg) c.1224+6261C>G (n.1224+6261C>G) n.647C>G n.612C>G c.1380-558C>G (n.1380-558C>G) c.1415C>G (p.Thr472Arg) c.416C>G (p.Thr139Arg) c.1301C>G (p.Thr434Arg) c.1412C>G (p.Thr471Arg) c.1400C>G (p.Thr467Arg) | dbSNP |
| 12 | g.112488466C>A | CA386778245 | PTPN11 | c.1403C>A (p.Thr468Lys) n.68C>A c.1289C>A (p.Thr430Lys) c.1224+6261C>A (n.1224+6261C>A) n.647C>A n.612C>A c.1380-558C>A (n.1380-558C>A) c.1415C>A (p.Thr472Lys) c.416C>A (p.Thr139Lys) c.1301C>A (p.Thr434Lys) c.1412C>A (p.Thr471Lys) c.1400C>A (p.Thr467Lys) | dbSNP |