| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51950132C>T | CA271172 | ATP7B | c.*438G>A (n.*438G>A) c.*1349G>A (n.*1349G>A) c.2119G>A (p.Gly707Arg) c.2605G>A (p.Gly869Arg) c.2272G>A (p.Gly758Arg) c.2353G>A (p.Gly785Arg) c.2371G>A (p.Gly791Arg) c.1675G>A (p.Gly559Arg) c.1315G>A (p.Gly439Arg) c.566G>A n.3403G>A n.1950G>A c.2461G>A (p.Gly821Arg) n.212-3654G>A c.2509G>A (p.Gly837Arg) c.2569G>A (p.Gly857Arg) c.421G>A (p.Gly141Arg) c.2191G>A (p.Gly731Arg) c.1273G>A (p.Gly425Arg) n.2824G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51950132C>A | CA6988948 | ATP7B | c.*438G>T (n.*438G>T) c.*1349G>T (n.*1349G>T) c.2119G>T (p.Gly707Ter) c.2605G>T (p.Gly869Ter) c.2272G>T (p.Gly758Ter) c.2353G>T (p.Gly785Ter) c.2371G>T (p.Gly791Ter) c.1675G>T (p.Gly559Ter) c.1315G>T (p.Gly439Ter) c.566G>T n.3403G>T n.1950G>T c.2461G>T (p.Gly821Ter) n.212-3654G>T c.2509G>T (p.Gly837Ter) c.2569G>T (p.Gly857Ter) c.421G>T (p.Gly141Ter) c.2191G>T (p.Gly731Ter) c.1273G>T (p.Gly425Ter) n.2824G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51950132C= | CA2091542046 | ATP7B | c.*438G= (n.*438G=) c.*1349G= (n.*1349G=) c.2119G= (p.Gly707=) c.2605G= (p.Gly869=) c.2272G= (p.Gly758=) c.2353G= (p.Gly785=) c.2371G= (p.Gly791=) c.1675G= (p.Gly559=) c.1315G= (p.Gly439=) c.566G= n.3403G= n.1950G= c.2461G= (p.Gly821=) n.212-3654G= c.2509G= (p.Gly837=) c.2569G= (p.Gly857=) c.421G= (p.Gly141=) c.2191G= (p.Gly731=) c.1273G= (p.Gly425=) n.2824G= | dbSNP |