Welcome to our Wilson Disease Mutation Database
Result(1610)
cDNA change    
Protein alteration    
Genomic reference    
RS ID    
Location    
Protein area    
Variation type    
SIFT    
PolyPhen-2    
ACMG classification    
Pubmed ID    
 n.a
 p.Leu517-fs
 n.a
 n.a
 exon4
 /
 Frameshift
 n.a
 n.a
 Pathogenic
  30232804
 n.a
 Exon 4 deletion
 n.a
 n.a
 exon4
 /
 Large fragment deletion
 n.a
 n.a
 Pathogenic
  34400371
 n.a
 Exon 4 deletion
 n.a
 n.a
 exon4
 /
 Large fragment deletion
 n.a
 n.a
 Pathogenic
  22677543
 n.a
 p.Leu748His-fs
 n.a
 n.a
 exon8
 /
 Frameshift
 n.a
 n.a
 Pathogenic
  30232804
 n.a
 p.Leu748fs
 n.a
 n.a
 exon8
 /
 Frameshift
 n.a
 n.a
 Pathogenic
  20958917
 ?
 p.Ala887Leu
 /
 /
 exon11
 A-domain/TM5
 Missense
 /
 /
 Uncertain significance
  36253962
 n.a
 Exon 1_21 deletion
 n.a
 n.a
 exon1_21
 /
 Large fragment deletion
 n.a
 n.a
 Pathogenic
  36096368
 n.a
 Exon 10_21 deletion
 n.a
 n.a
 exon10_21
 /
 Large fragment deletion
 n.a
 n.a
 Pathogenic
  36096368
 n.a
 Exon 10_21 deletion
 n.a
 n.a
 exon10_21
 /
 Large fragment deletion
 n.a
 n.a
 Pathogenic
  38964899
 n.a
 Exon 10_11 deletion
 n.a
 n.a
 exon10_11
 /
 Large fragment deletion
 n.a
 n.a
 Pathogenic
  38847512
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