| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51949772G>C | CA252895 | ATP7B | c.*588C>G (n.*588C>G) c.*1499C>G (n.*1499C>G) c.2244+235C>G (n.2244+235C>G) c.2755C>G (p.Arg919Gly) c.2422C>G (p.Arg808Gly) c.2503C>G (p.Arg835Gly) c.2521C>G (p.Arg841Gly) c.1800+235C>G (n.1800+235C>G) c.1465C>G (p.Arg489Gly) c.716C>G n.3553C>G n.2100C>G c.2611C>G (p.Arg871Gly) n.212-3294C>G c.2659C>G (p.Arg887Gly) c.2719C>G (p.Arg907Gly) c.2269C>G (p.Arg757Gly) c.571C>G (p.Arg191Gly) c.2730+235C>G (n.2730+235C>G) c.2341C>G (p.Arg781Gly) c.1423C>G (p.Arg475Gly) n.2974C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.51949772G>T | CA484024530 | ATP7B | c.*588C>A (n.*588C>A) c.*1499C>A (n.*1499C>A) c.2244+235C>A (n.2244+235C>A) c.2755C>A (p.Arg919=) c.2422C>A (p.Arg808=) c.2503C>A (p.Arg835=) c.2521C>A (p.Arg841=) c.1800+235C>A (n.1800+235C>A) c.1465C>A (p.Arg489=) c.716C>A n.3553C>A n.2100C>A c.2611C>A (p.Arg871=) n.212-3294C>A c.2659C>A (p.Arg887=) c.2719C>A (p.Arg907=) c.2269C>A (p.Arg757=) c.571C>A (p.Arg191=) c.2730+235C>A (n.2730+235C>A) c.2341C>A (p.Arg781=) c.1423C>A (p.Arg475=) n.2974C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.51949772G>A | CA6988915 | ATP7B | c.*588C>T (n.*588C>T) c.*1499C>T (n.*1499C>T) c.2244+235C>T (n.2244+235C>T) c.2755C>T (p.Arg919Trp) c.2422C>T (p.Arg808Trp) c.2503C>T (p.Arg835Trp) c.2521C>T (p.Arg841Trp) c.1800+235C>T (n.1800+235C>T) c.1465C>T (p.Arg489Trp) c.716C>T n.3553C>T n.2100C>T c.2611C>T (p.Arg871Trp) n.212-3294C>T c.2659C>T (p.Arg887Trp) c.2719C>T (p.Arg907Trp) c.2269C>T (p.Arg757Trp) c.571C>T (p.Arg191Trp) c.2730+235C>T (n.2730+235C>T) c.2341C>T (p.Arg781Trp) c.1423C>T (p.Arg475Trp) n.2974C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |