Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51958367dupCA270732ATP7Bc.*137dup (n.*137dup)
c.*1048dup (n.*1048dup)
c.1870-755dup (n.1870-755dup)
c.2304dup (p.Met769HisfsTer26)
c.1971dup (p.Met658HisfsTer26)
c.2052dup (p.Met685HisfsTer26)
c.2122-755dup (n.2122-755dup)
c.1426-755dup (n.1426-755dup)
c.1286-8201dup (n.1286-8201dup)
c.265dup
n.2399dup
n.1649dup
c.2160dup (p.Met721HisfsTer26)
n.212-11884dup
c.2208dup (p.Met737HisfsTer26)
c.2268dup (p.Met757HisfsTer26)
c.120dup (p.Met41HisfsTer26)
c.1890dup (p.Met631HisfsTer26)
c.972dup (p.Met325HisfsTer26)
n.2523dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.51958367delCA250059968ATP7Bc.*137del (n.*137del)
c.*1048del (n.*1048del)
c.1870-755del (n.1870-755del)
c.2304del (p.Met769CysfsTer?)
c.1971del (p.Met658CysfsTer?)
c.2052del (p.Met685CysfsTer?)
c.2122-755del (n.2122-755del)
c.1426-755del (n.1426-755del)
c.1286-8201del (n.1286-8201del)
c.265del
n.2399del
n.1649del
c.2160del (p.Met721CysfsTer?)
n.212-11884del
c.2208del (p.Met737CysfsTer?)
c.2268del (p.Met757CysfsTer?)
c.120del (p.Met41CysfsTer?)
c.1890del (p.Met631CysfsTer?)
c.972del (p.Met325CysfsTer?)
n.2523del
ClinVar dbSNP gnomAD v4

Number of alleles fetched