Table 3.

Representative gene mutations associated with diabetes found in this case

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