| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51949717del | CA16041668 | ATP7B | c.*643del (n.*643del) c.*1554del (n.*1554del) c.2244+290del (n.2244+290del) c.2810del (p.Val937GlyfsTer5) c.2477del (p.Val826GlyfsTer5) c.2558del (p.Val853GlyfsTer5) c.2576del (p.Val859GlyfsTer5) c.1800+290del (n.1800+290del) c.1520del (p.Val507GlyfsTer5) c.771del n.3608del n.2155del c.2666del (p.Val889GlyfsTer5) n.212-3239del c.2714del (p.Val905GlyfsTer5) c.2774del (p.Val925GlyfsTer5) c.2324del (p.Val775GlyfsTer5) c.626del (p.Val209GlyfsTer5) c.2730+290del (n.2730+290del) c.2396del (p.Val799GlyfsTer5) c.1478del (p.Val493GlyfsTer5) n.3029del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51949717A= | CA3200933585 | ATP7B | c.*643T= (n.*643T=) c.*1554T= (n.*1554T=) c.2244+290T= (n.2244+290T=) c.2810T= (p.Val937=) c.2477T= (p.Val826=) c.2558T= (p.Val853=) c.2576T= (p.Val859=) c.1800+290T= (n.1800+290T=) c.1520T= (p.Val507=) c.771T= n.3608T= n.2155T= c.2666T= (p.Val889=) n.212-3239T= c.2714T= (p.Val905=) c.2774T= (p.Val925=) c.2324T= (p.Val775=) c.626T= (p.Val209=) c.2730+290T= (n.2730+290T=) c.2396T= (p.Val799=) c.1478T= (p.Val493=) n.3029T= | dbSNP |