Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.67721909C>T | CA413426801 | AR | c.*743C>T (n.*743C>T) c.2395C>T (p.Gln799Ter) c.1022C>T (n.1022C>T) c.2174-1777C>T (n.2174-1777C>T) c.799C>T (p.Gln267Ter) c.1825C>T (p.Gln609Ter) | dbSNP |
X | g.67721909C>G | CA120774 | AR | c.*743C>G (n.*743C>G) c.2395C>G (p.Gln799Glu) c.1022C>G (n.1022C>G) c.2174-1777C>G (n.2174-1777C>G) c.799C>G (p.Gln267Glu) c.1825C>G (p.Gln609Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.67721909C>A | CA413426798 | AR | c.*743C>A (n.*743C>A) c.2395C>A (p.Gln799Lys) c.1022C>A (n.1022C>A) c.2174-1777C>A (n.2174-1777C>A) c.799C>A (p.Gln267Lys) c.1825C>A (p.Gln609Lys) | dbSNP |