| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.101068026A>C | CA10581441 | NALCN | c.4338T>G (p.Ile1446Met) c.4059T>G (p.Ile1353Met) c.4425T>G (p.Ile1475Met) c.4251T>G (p.Ile1417Met) c.4395T>G (p.Ile1465Met) c.4308T>G (p.Ile1436Met) c.4116T>G (p.Ile1372Met) c.3891T>G (p.Ile1297Met) c.3573T>G (p.Ile1191Met) c.4482T>G (p.Ile1494Met) | ClinVar dbSNP |
| 13 | g.101068026A= | CA2114382569 | NALCN | c.4338T= (p.Ile1446=) c.4059T= (p.Ile1353=) c.4425T= (p.Ile1475=) c.4251T= (p.Ile1417=) c.4395T= (p.Ile1465=) c.4308T= (p.Ile1436=) c.4116T= (p.Ile1372=) c.3891T= (p.Ile1297=) c.3573T= (p.Ile1191=) c.4482T= (p.Ile1494=) | dbSNP |