| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10696257G>A | CA10581452 | PIEZO2 | c.*109C>T (n.*109C>T) n.1746C>T c.7007C>T (p.Ser2336Leu) c.6668C>T (p.Ser2223Leu) c.6521C>T (p.Ser2174Leu) c.539C>T (p.Ser180Leu) c.6743C>T (p.Ser2248Leu) c.6874C>T (n.6874C>T) c.6800C>T (p.Ser2267Leu) c.6710C>T (p.Ser2237Leu) c.6617C>T (p.Ser2206Leu) c.6761C>T (p.Ser2254Leu) n.7797C>T | ClinVar dbSNP COSMIC COSMIC |
| 18 | g.10696257G= | CA2284420970 | PIEZO2 | c.*109C= (n.*109C=) n.1746C= c.7007C= (p.Ser2336=) c.6668C= (p.Ser2223=) c.6521C= (p.Ser2174=) c.539C= (p.Ser180=) c.6743C= (p.Ser2248=) c.6874C= (n.6874C=) c.6800C= (p.Ser2267=) c.6710C= (p.Ser2237=) c.6617C= (p.Ser2206=) c.6761C= (p.Ser2254=) n.7797C= | dbSNP |