Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.101144812G>A | CA144793 | NALCN | c.1924C>T (p.Gln642Ter) c.116C>T c.1840-20131C>T (n.1840-20131C>T) c.1837C>T (p.Gln613Ter) n.2078C>T c.1981C>T (p.Gln661Ter) c.1894C>T (p.Gln632Ter) c.1897-20131C>T (n.1897-20131C>T) c.1477C>T (p.Gln493Ter) c.1159C>T (p.Gln387Ter) | ClinVar dbSNP |
13 | g.101144812G>C | CA388671747 | NALCN | c.1924C>G (p.Gln642Glu) c.116C>G c.1840-20131C>G (n.1840-20131C>G) c.1837C>G (p.Gln613Glu) n.2078C>G c.1981C>G (p.Gln661Glu) c.1894C>G (p.Gln632Glu) c.1897-20131C>G (n.1897-20131C>G) c.1477C>G (p.Gln493Glu) c.1159C>G (p.Gln387Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |