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