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Table 3 Representative gene mutations associated with diabetes 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
ABCC8 Heterozygous 43 105 C > T Val1573Ile rs8192690
ABCC8 Heterozygous 33 60 C > A Ala1369Ser rs757110
HNF1A Heterozygous 72 156 G > A Ser487Asn rs2464196
HNF1A Homozygous 130 131 T > C Leu551Ser rs1169304
HNF1A Homozygous 30 30 A > G Ser581Gly rs587778398
HNF1A Heterozygous 61 125 A > C Ile27Leu rs1169288
KCNJ11 Heterozygous 31 69 C > T Val250Ile rs5215
KCNJ11 Heterozygous 50 108 T > C Lys23Glu rs5219
MTNR1B Heterozygous 12 33 G > C Ala107Pro  
NKX6.1 Heterozygous 14 42 C insertion Leu80fs  
PAX4 Homozygous 31 31 T > C *341Trp rs712700
PAX4 Homozygous 13 13 T > G His319Pro rs712701
PCK1 Homozygous 53 53 G > C Val52Leu rs707555
TCF7L2 Heterozygous 73 143 C > A His475Gln Rs77961654
WFS1 Homozygous 200 200 G > A Val333Ile rs1801212
WFS1 Homozygous 153 153 G > A Arg611His rs734312