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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