Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51958367dup | CA270732 | ATP7B | c.*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 |
13 | g.51958367del | CA250059968 | ATP7B | c.*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 |