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Table 2 Representative gene mutations involved in urate metabolism found in this case

From: Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion

Gene Zygosity Read count Read coverage Mutation Amino acid change SNV
SLC22A12 Heterozygous 49 109 G > A Glu110Lys  
SLC22A12 Homozygous 129 129 G > A Trp258* rs121907892
SLC2A9 Heterozygous 19 34 C > T Gly25Arg rs2276961
SLC2A9 Heterozygous 84 190 C > T Arg265His rs3733591
ABCG2 Heterozygous 35 83 G > T Gln141Lys rs2231142
SLC17A1 Homozygous 26 26 G > A Thr269Ile rs1169288