Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.67711453C>G | CA413423060 | AR | c.*285C>G (n.*285C>G) c.1937C>G (p.Ala646Gly) c.564C>G (n.564C>G) c.341C>G (p.Ala114Gly) c.1367C>G (p.Ala456Gly) | dbSNP |
X | g.67711453C>T | CA413423061 | AR | c.*285C>T (n.*285C>T) c.1937C>T (p.Ala646Val) c.564C>T (n.564C>T) c.341C>T (p.Ala114Val) c.1367C>T (p.Ala456Val) | dbSNP |
X | g.67711453C>A | CA120795 | AR | c.*285C>A (n.*285C>A) c.1937C>A (p.Ala646Asp) c.564C>A (n.564C>A) c.341C>A (p.Ala114Asp) c.1367C>A (p.Ala456Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |