| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10671578del | CA10581450 | PIEZO2 | c.*1649del (n.*1649del) n.3290del n.2445del c.1743del (n.1743del) c.8547del (p.Tyr2850IlefsTer7) c.8019del (p.Tyr2674IlefsTer7) c.8061del (p.Tyr2688IlefsTer7) c.8208del (p.Tyr2737IlefsTer7) c.2079del (p.Tyr694IlefsTer7) c.8283del (p.Tyr2762IlefsTer7) c.8414del (n.8414del) c.58+1112del (n.58+1112del) c.8340del (p.Tyr2781IlefsTer7) c.8250del (p.Tyr2751IlefsTer7) c.8157del (p.Tyr2720IlefsTer7) c.8301del (p.Tyr2768IlefsTer7) | ClinVar dbSNP |
| 18 | g.10671578T= | CA3229057865 | PIEZO2 | c.*1649A= (n.*1649A=) n.3290A= n.2445A= c.1743A= (n.1743A=) c.8547A= (p.Leu2849=) c.8019A= (p.Leu2673=) c.8061A= (p.Leu2687=) c.8208A= (p.Leu2736=) c.2079A= (p.Leu693=) c.8283A= (p.Leu2761=) c.8414A= (n.8414A=) c.58+1112A= (n.58+1112A=) c.8340A= (p.Leu2780=) c.8250A= (p.Leu2750=) c.8157A= (p.Leu2719=) c.8301A= (p.Leu2767=) | dbSNP dbSNP |