| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.101143190G>A | CA16606743 | NALCN | c.2008C>T (p.Gln670Ter) c.200C>T c.1840-18509C>T (n.1840-18509C>T) c.1921C>T (p.Gln641Ter) n.32C>T n.2162C>T c.2065C>T (p.Gln689Ter) c.1978C>T (p.Gln660Ter) c.1897-18509C>T (n.1897-18509C>T) c.1561C>T (p.Gln521Ter) c.1243C>T (p.Gln415Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.101143190G= | CA2114416597 | NALCN | c.2008C= (p.Gln670=) c.200C= c.1840-18509C= (n.1840-18509C=) c.1921C= (p.Gln641=) n.32C= n.2162C= c.2065C= (p.Gln689=) c.1978C= (p.Gln660=) c.1897-18509C= (n.1897-18509C=) c.1561C= (p.Gln521=) c.1243C= (p.Gln415=) | dbSNP |