| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10689746G>A | CA10581451 | PIEZO2 | c.*508C>T (n.*508C>T) n.2145C>T c.602C>T (n.602C>T) c.7406C>T (p.Thr2469Met) c.7067C>T (p.Thr2356Met) c.6920C>T (p.Thr2307Met) c.938C>T (p.Thr313Met) c.7142C>T (p.Thr2381Met) c.7273C>T (n.7273C>T) c.7199C>T (p.Thr2400Met) c.7109C>T (p.Thr2370Met) c.7016C>T (p.Thr2339Met) c.7160C>T (p.Thr2387Met) n.8196C>T | ClinVar dbSNP COSMIC COSMIC |
| 18 | g.10689746G= | CA2284417856 | PIEZO2 | c.*508C= (n.*508C=) n.2145C= c.602C= (n.602C=) c.7406C= (p.Thr2469=) c.7067C= (p.Thr2356=) c.6920C= (p.Thr2307=) c.938C= (p.Thr313=) c.7142C= (p.Thr2381=) c.7273C= (n.7273C=) c.7199C= (p.Thr2400=) c.7109C= (p.Thr2370=) c.7016C= (p.Thr2339=) c.7160C= (p.Thr2387=) n.8196C= | dbSNP |