| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51944145G>T | CA220309 | ATP7B | c.*894-1591C>A (n.*894-1591C>A) c.*1951C>A (n.*1951C>A) c.2586C>A (p.His862Gln) c.3207C>A (p.His1069Gln) c.2874C>A (p.His958Gln) c.2955C>A (p.His985Gln) c.2973C>A (p.His991Gln) n.3346C>A n.3570C>A c.2142C>A (p.His714Gln) c.1917C>A (p.His639Gln) c.3012C>A (p.His1004Gln) n.427C>A c.1022-1591C>A c.*308C>A (n.*308C>A) n.3951C>A n.2552C>A c.3063C>A (p.His1021Gln) c.3111C>A (p.His1037Gln) c.3171C>A (p.His1057Gln) c.2721C>A (p.His907Gln) c.1023C>A (p.His341Gln) c.877-1591C>A (n.877-1591C>A) c.3072C>A (p.His1024Gln) c.3061-1591C>A (n.3061-1591C>A) c.2793C>A (p.His931Gln) c.2731-1591C>A (n.2731-1591C>A) c.1875C>A (p.His625Gln) n.3426C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.51944145G>A | CA6988780 | ATP7B | c.*894-1591C>T (n.*894-1591C>T) c.*1951C>T (n.*1951C>T) c.2586C>T (p.His862=) c.3207C>T (p.His1069=) c.2874C>T (p.His958=) c.2955C>T (p.His985=) c.2973C>T (p.His991=) n.3346C>T n.3570C>T c.2142C>T (p.His714=) c.1917C>T (p.His639=) c.3012C>T (p.His1004=) n.427C>T c.1022-1591C>T c.*308C>T (n.*308C>T) n.3951C>T n.2552C>T c.3063C>T (p.His1021=) c.3111C>T (p.His1037=) c.3171C>T (p.His1057=) c.2721C>T (p.His907=) c.1023C>T (p.His341=) c.877-1591C>T (n.877-1591C>T) c.3072C>T (p.His1024=) c.3061-1591C>T (n.3061-1591C>T) c.2793C>T (p.His931=) c.2731-1591C>T (n.2731-1591C>T) c.1875C>T (p.His625=) n.3426C>T | ClinVar dbSNP ExAC gnomAD v2 |