| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51950116G>A | CA252892 | ATP7B | c.*454C>T (n.*454C>T) c.*1365C>T (n.*1365C>T) c.2135C>T (p.Ala712Val) c.2621C>T (p.Ala874Val) c.2288C>T (p.Ala763Val) c.2369C>T (p.Ala790Val) c.2387C>T (p.Ala796Val) c.1691C>T (p.Ala564Val) c.1331C>T (p.Ala444Val) c.582C>T n.3419C>T n.1966C>T c.2477C>T (p.Ala826Val) n.212-3638C>T c.2525C>T (p.Ala842Val) c.2585C>T (p.Ala862Val) c.437C>T (p.Ala146Val) c.2207C>T (p.Ala736Val) c.1289C>T (p.Ala430Val) n.2840C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.51950116G>T | CA388034776 | ATP7B | c.*454C>A (n.*454C>A) c.*1365C>A (n.*1365C>A) c.2135C>A (p.Ala712Glu) c.2621C>A (p.Ala874Glu) c.2288C>A (p.Ala763Glu) c.2369C>A (p.Ala790Glu) c.2387C>A (p.Ala796Glu) c.1691C>A (p.Ala564Glu) c.1331C>A (p.Ala444Glu) c.582C>A n.3419C>A n.1966C>A c.2477C>A (p.Ala826Glu) n.212-3638C>A c.2525C>A (p.Ala842Glu) c.2585C>A (p.Ala862Glu) c.437C>A (p.Ala146Glu) c.2207C>A (p.Ala736Glu) c.1289C>A (p.Ala430Glu) n.2840C>A | ClinVar dbSNP |