Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.58444158C>T | CA10654767 | KIAA0586 | n.480C>T c.535C>T (p.Gln179Ter) n.1336C>T c.790C>T (p.Gln264Ter) c.745C>T (p.Gln249Ter) n.696C>T c.*356C>T (n.*356C>T) n.1022C>T c.949C>T (p.Gln317Ter) c.658C>T (p.Gln220Ter) n.380C>T c.370C>T (p.Gln124Ter) c.913C>T (p.Gln305Ter) c.394C>T (p.Gln132Ter) | ClinVar dbSNP gnomAD v4 |
14 | g.58444158C>A | CA389863031 | KIAA0586 | n.480C>A c.535C>A (p.Gln179Lys) n.1336C>A c.790C>A (p.Gln264Lys) c.745C>A (p.Gln249Lys) n.696C>A c.*356C>A (n.*356C>A) n.1022C>A c.949C>A (p.Gln317Lys) c.658C>A (p.Gln220Lys) n.380C>A c.370C>A (p.Gln124Lys) c.913C>A (p.Gln305Lys) c.394C>A (p.Gln132Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |