Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51937679C>TCA388022671ATP7Bc.*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
13g.51937679C>ACA260146ATP7Bc.*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

Number of alleles fetched