| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51941108G>A | CA16041665 | ATP7B | c.*1179C>T (n.*1179C>T) c.*2273C>T (n.*2273C>T) c.2908C>T (p.Gln970Ter) c.3529C>T (p.Gln1177Ter) c.3196C>T (p.Gln1066Ter) c.3277C>T (p.Gln1093Ter) c.3295C>T (p.Gln1099Ter) n.3668C>T n.3892C>T c.2464C>T (p.Gln822Ter) c.2239C>T (p.Gln747Ter) c.3334C>T (p.Gln1112Ter) c.1307C>T c.*630C>T (n.*630C>T) n.4273C>T n.2874C>T c.3385C>T (p.Gln1129Ter) c.3433C>T (p.Gln1145Ter) c.3493C>T (p.Gln1165Ter) c.3043C>T (p.Gln1015Ter) c.1345C>T (p.Gln449Ter) c.1162C>T (p.Gln388Ter) c.3394C>T (p.Gln1132Ter) c.3346C>T (p.Gln1116Ter) c.3115C>T (p.Gln1039Ter) c.3016C>T (p.Gln1006Ter) c.2197C>T (p.Gln733Ter) n.3748C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51941108G= | CA2091559369 | ATP7B | c.*1179C= (n.*1179C=) c.*2273C= (n.*2273C=) c.2908C= (p.Gln970=) c.3529C= (p.Gln1177=) c.3196C= (p.Gln1066=) c.3277C= (p.Gln1093=) c.3295C= (p.Gln1099=) n.3668C= n.3892C= c.2464C= (p.Gln822=) c.2239C= (p.Gln747=) c.3334C= (p.Gln1112=) c.1307C= c.*630C= (n.*630C=) n.4273C= n.2874C= c.3385C= (p.Gln1129=) c.3433C= (p.Gln1145=) c.3493C= (p.Gln1165=) c.3043C= (p.Gln1015=) c.1345C= (p.Gln449=) c.1162C= (p.Gln388=) c.3394C= (p.Gln1132=) c.3346C= (p.Gln1116=) c.3115C= (p.Gln1039=) c.3016C= (p.Gln1006=) c.2197C= (p.Gln733=) n.3748C= | dbSNP |