Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51937570T>ACA6988565ATP7Bc.*1459A>T (n.*1459A>T)
c.*2553A>T (n.*2553A>T)
c.3188A>T (p.Asn1063Ile)
c.3809A>T (p.Asn1270Ile)
c.3476A>T (p.Asn1159Ile)
c.3557A>T (p.Asn1186Ile)
n.1050A>T
c.3575A>T (p.Asn1192Ile)
n.3948A>T
n.675A>T
c.2744A>T (p.Asn915Ile)
c.2519A>T (p.Asn840Ile)
c.3614A>T (p.Asn1205Ile)
c.1587A>T
c.*910A>T (n.*910A>T)
n.4553A>T
n.3154A>T
c.3665A>T (p.Asn1222Ile)
c.3713A>T (p.Asn1238Ile)
c.3773A>T (p.Asn1258Ile)
c.3323A>T (p.Asn1108Ile)
c.1625A>T (p.Asn542Ile)
c.1442A>T (p.Asn481Ile)
c.3674A>T (p.Asn1225Ile)
c.3626A>T (p.Asn1209Ile)
c.3395A>T (p.Asn1132Ile)
c.3296A>T (p.Asn1099Ile)
c.2477A>T (p.Asn826Ile)
n.4028A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937570T>CCA252896ATP7Bc.*1459A>G (n.*1459A>G)
c.*2553A>G (n.*2553A>G)
c.3188A>G (p.Asn1063Ser)
c.3809A>G (p.Asn1270Ser)
c.3476A>G (p.Asn1159Ser)
c.3557A>G (p.Asn1186Ser)
n.1050A>G
c.3575A>G (p.Asn1192Ser)
n.3948A>G
n.675A>G
c.2744A>G (p.Asn915Ser)
c.2519A>G (p.Asn840Ser)
c.3614A>G (p.Asn1205Ser)
c.1587A>G
c.*910A>G (n.*910A>G)
n.4553A>G
n.3154A>G
c.3665A>G (p.Asn1222Ser)
c.3713A>G (p.Asn1238Ser)
c.3773A>G (p.Asn1258Ser)
c.3323A>G (p.Asn1108Ser)
c.1625A>G (p.Asn542Ser)
c.1442A>G (p.Asn481Ser)
c.3674A>G (p.Asn1225Ser)
c.3626A>G (p.Asn1209Ser)
c.3395A>G (p.Asn1132Ser)
c.3296A>G (p.Asn1099Ser)
c.2477A>G (p.Asn826Ser)
n.4028A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched