Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.51937679C>T | CA388022671 | ATP7B | c.*1350G>A (n.*1350G>A) c.*2444G>A (n.*2444G>A) c.3079G>A (p.Val1027Ile) c.3700G>A (p.Val1234Ile) c.3367G>A (p.Val1123Ile) c.3448G>A (p.Val1150Ile) n.941G>A c.3466G>A (p.Val1156Ile) n.3839G>A n.566G>A c.2635G>A (p.Val879Ile) c.2410G>A (p.Val804Ile) c.3505G>A (p.Val1169Ile) c.1478G>A c.*801G>A (n.*801G>A) n.4444G>A n.3045G>A c.3556G>A (p.Val1186Ile) c.3604G>A (p.Val1202Ile) c.3664G>A (p.Val1222Ile) c.3214G>A (p.Val1072Ile) c.1516G>A (p.Val506Ile) c.1333G>A (p.Val445Ile) c.3565G>A (p.Val1189Ile) c.3517G>A (p.Val1173Ile) c.3286G>A (p.Val1096Ile) c.3187G>A (p.Val1063Ile) c.2368G>A (p.Val790Ile) n.3919G>A | dbSNP |
13 | g.51937679C>A | CA260146 | ATP7B | c.*1350G>T (n.*1350G>T) c.*2444G>T (n.*2444G>T) c.3079G>T (p.Val1027Phe) c.3700G>T (p.Val1234Phe) c.3367G>T (p.Val1123Phe) c.3448G>T (p.Val1150Phe) n.941G>T c.3466G>T (p.Val1156Phe) n.3839G>T n.566G>T c.2635G>T (p.Val879Phe) c.2410G>T (p.Val804Phe) c.3505G>T (p.Val1169Phe) c.1478G>T c.*801G>T (n.*801G>T) n.4444G>T n.3045G>T c.3556G>T (p.Val1186Phe) c.3604G>T (p.Val1202Phe) c.3664G>T (p.Val1222Phe) c.3214G>T (p.Val1072Phe) c.1516G>T (p.Val506Phe) c.1333G>T (p.Val445Phe) c.3565G>T (p.Val1189Phe) c.3517G>T (p.Val1173Phe) c.3286G>T (p.Val1096Phe) c.3187G>T (p.Val1063Phe) c.2368G>T (p.Val790Phe) n.3919G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |