Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.49246763A>T | CA658683016 | CCDC22 | c.747A>T (p.Gln249His) c.744A>T (p.Gln248His) n.849A>T n.862A>T | dbSNP |
X | g.49246763A>G | CA329131474 | CCDC22 | c.747A>G (p.Gln249=) c.744A>G (p.Gln248=) n.849A>G n.862A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.49246763A>C | CA412936857 | CCDC22 | c.747A>C (p.Gln249His) c.744A>C (p.Gln248His) n.849A>C n.862A>C | dbSNP |