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Table 3 List of all variants found in ATP7B gene by sequencing of all the exons and exon–intron boundaries in sample IV:5

From: Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

Nucleic acid alteration Amino acid alteration Location of gene Zygosity Chr. location RS ID 1000 Genomes freq
c.1924G>C p.Asp642His EX06 Het chr13:52,535,995 rs72552285 0
c.3809A>G p.Asn1270Ser EX18 Het chr13:52,511,706 rs121907990 0
c.3903 + 6C>T IN18 Het chr13:52,511,606 rs2282057 0.4753
c.3419 T>C p.Val1140Ala EX16 Het chr13:52,515,354 rs1801249 0.4652
c.3009G>A p.Ala1003Ala EX13 Het chr13:52,520,471 rs1801247 0.0568
c.2855G>A p.Arg952Lys EX12 Het chr13:52,523,808 rs732774 0.4725
c.2495A>G p.Lys832Arg EX10 Het chr13:52,524,488 rs1061472 0.4753
  1. chr chromosome, freq frequency, RS ID reference SNP cluster ID