| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235744148G>C | CA347103 | LYST | c.2657C>G (p.Ser886Ter) c.77C>G (p.Ser26Ter) c.*3406C>G (n.*3406C>G) c.1691C>G (p.Ser564Ter) c.116C>G (p.Ser39Ter) c.2462C>G (p.Ser821Ter) c.7982C>G (p.Ser2661Ter) c.8144C>G (p.Ser2715Ter) c.8006C>G (p.Ser2669Ter) c.5807C>G (p.Ser1936Ter) n.8326C>G n.8164C>G n.7613C>G | ClinVar dbSNP |
| 1 | g.235744148G= | CA2486626464 | LYST | c.2657C= (p.Ser886=) c.77C= (p.Ser26=) c.*3406C= (n.*3406C=) c.1691C= (p.Ser564=) c.116C= (p.Ser39=) c.2462C= (p.Ser821=) c.7982C= (p.Ser2661=) c.8144C= (p.Ser2715=) c.8006C= (p.Ser2669=) c.5807C= (p.Ser1936=) n.8326C= n.8164C= n.7613C= | dbSNP |