| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34237544G>A | CA16041716 | SLC12A6 | c.2809C>T (p.Arg937Ter) c.2656C>T (p.Arg886Ter) c.2632C>T (p.Arg878Ter) c.2764C>T (p.Arg922Ter) c.2782C>T (p.Arg928Ter) n.172C>T n.486C>T c.*18C>T (n.*18C>T) c.2245C>T (p.Arg749Ter) c.2662C>T (p.Arg888Ter) n.2815C>T n.4059C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.34237544G= | CA3212402671 | SLC12A6 | c.2809C= (p.Arg937=) c.2656C= (p.Arg886=) c.2632C= (p.Arg878=) c.2764C= (p.Arg922=) c.2782C= (p.Arg928=) n.172C= n.486C= c.*18C= (n.*18C=) c.2245C= (p.Arg749=) c.2662C= (p.Arg888=) n.2815C= n.4059C= | dbSNP |