| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51949710C>A | CA16041667 | ATP7B | c.*650G>T (n.*650G>T) c.*1561G>T (n.*1561G>T) c.2244+297G>T (n.2244+297G>T) c.2817G>T (p.Trp939Cys) c.2484G>T (p.Trp828Cys) c.2565G>T (p.Trp855Cys) c.2583G>T (p.Trp861Cys) c.1800+297G>T (n.1800+297G>T) c.1527G>T (p.Trp509Cys) c.778G>T n.3609+6G>T n.2162G>T c.2673G>T (p.Trp891Cys) n.212-3232G>T c.2721G>T (p.Trp907Cys) c.2781G>T (p.Trp927Cys) c.2331G>T (p.Trp777Cys) c.633G>T (p.Trp211Cys) c.2730+297G>T (n.2730+297G>T) c.2403G>T (p.Trp801Cys) c.1485G>T (p.Trp495Cys) n.3036G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.51949710C>G | CA388033509 | ATP7B | c.*650G>C (n.*650G>C) c.*1561G>C (n.*1561G>C) c.2244+297G>C (n.2244+297G>C) c.2817G>C (p.Trp939Cys) c.2484G>C (p.Trp828Cys) c.2565G>C (p.Trp855Cys) c.2583G>C (p.Trp861Cys) c.1800+297G>C (n.1800+297G>C) c.1527G>C (p.Trp509Cys) c.778G>C n.3609+6G>C n.2162G>C c.2673G>C (p.Trp891Cys) n.212-3232G>C c.2721G>C (p.Trp907Cys) c.2781G>C (p.Trp927Cys) c.2331G>C (p.Trp777Cys) c.633G>C (p.Trp211Cys) c.2730+297G>C (n.2730+297G>C) c.2403G>C (p.Trp801Cys) c.1485G>C (p.Trp495Cys) n.3036G>C | ClinVar dbSNP |