Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51949772G>CCA252895ATP7Bc.2755C>G (p.Arg919Gly)
c.2244+235C>G (p.=)
c.2422C>G (p.Arg808Gly)
c.2659C>G (p.Arg887Gly)
c.2521C>G (p.Arg841Gly)
c.2503C>G (p.Arg835Gly)
c.2719C>G (p.Arg907Gly)
c.2269C>G (p.Arg757Gly)
c.571C>G (p.Arg191Gly)
c.2730+235C>G (p.=)
c.2341C>G (p.Arg781Gly)
c.1423C>G (p.Arg475Gly)
n.2974C>G
c.1465C>G (p.Arg489Gly)
n.716C>G
n.3553C>G
n.2100C>G
c.2611C>G (p.Arg871Gly)
n.212-3294C>G
ClinVar dbSNP ExAC gnomAD COSMIC
13g.51949772G>ACA6988915ATP7Bc.2755C>T (p.Arg919Trp)
c.2244+235C>T (p.=)
c.2422C>T (p.Arg808Trp)
c.2659C>T (p.Arg887Trp)
c.2521C>T (p.Arg841Trp)
c.2503C>T (p.Arg835Trp)
c.2719C>T (p.Arg907Trp)
c.2269C>T (p.Arg757Trp)
c.571C>T (p.Arg191Trp)
c.2730+235C>T (p.=)
c.2341C>T (p.Arg781Trp)
c.1423C>T (p.Arg475Trp)
n.2974C>T
c.1465C>T (p.Arg489Trp)
n.716C>T
n.3553C>T
n.2100C>T
c.2611C>T (p.Arg871Trp)
n.212-3294C>T
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched