| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51950352T>C | CA145674 | ATP7B | c.*328A>G (n.*328A>G) c.*1239A>G (n.*1239A>G) c.2009A>G (p.Lys670Arg) c.2495A>G (p.Lys832Arg) c.2162A>G (p.Lys721Arg) c.2243A>G (p.Lys748Arg) c.2261A>G (p.Lys754Arg) c.1565A>G (p.Lys522Arg) c.1286-191A>G (n.1286-191A>G) c.456A>G n.3293A>G n.1840A>G c.2351A>G (p.Lys784Arg) n.212-3874A>G c.2399A>G (p.Lys800Arg) c.2459A>G (p.Lys820Arg) c.311A>G (p.Lys104Arg) c.2081A>G (p.Lys694Arg) c.1163A>G (p.Lys388Arg) n.2714A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51950352T>G | CA388016584 | ATP7B | c.*328A>C (n.*328A>C) c.*1239A>C (n.*1239A>C) c.2009A>C (p.Lys670Thr) c.2495A>C (p.Lys832Thr) c.2162A>C (p.Lys721Thr) c.2243A>C (p.Lys748Thr) c.2261A>C (p.Lys754Thr) c.1565A>C (p.Lys522Thr) c.1286-191A>C (n.1286-191A>C) c.456A>C n.3293A>C n.1840A>C c.2351A>C (p.Lys784Thr) n.212-3874A>C c.2399A>C (p.Lys800Thr) c.2459A>C (p.Lys820Thr) c.311A>C (p.Lys104Thr) c.2081A>C (p.Lys694Thr) c.1163A>C (p.Lys388Thr) n.2714A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.51950352T= | CA2091542418 | ATP7B | c.*328A= (n.*328A=) c.*1239A= (n.*1239A=) c.2009A= (p.Lys670=) c.2495A= (p.Lys832=) c.2162A= (p.Lys721=) c.2243A= (p.Lys748=) c.2261A= (p.Lys754=) c.1565A= (p.Lys522=) c.1286-191A= (n.1286-191A=) c.456A= n.3293A= n.1840A= c.2351A= (p.Lys784=) n.212-3874A= c.2399A= (p.Lys800=) c.2459A= (p.Lys820=) c.311A= (p.Lys104=) c.2081A= (p.Lys694=) c.1163A= (p.Lys388=) n.2714A= | dbSNP |
| 13 | g.51950352T>A | CA388016581 | ATP7B | c.*328A>T (n.*328A>T) c.*1239A>T (n.*1239A>T) c.2009A>T (p.Lys670Met) c.2495A>T (p.Lys832Met) c.2162A>T (p.Lys721Met) c.2243A>T (p.Lys748Met) c.2261A>T (p.Lys754Met) c.1565A>T (p.Lys522Met) c.1286-191A>T (n.1286-191A>T) c.456A>T n.3293A>T n.1840A>T c.2351A>T (p.Lys784Met) n.212-3874A>T c.2399A>T (p.Lys800Met) c.2459A>T (p.Lys820Met) c.311A>T (p.Lys104Met) c.2081A>T (p.Lys694Met) c.1163A>T (p.Lys388Met) n.2714A>T | dbSNP |