Table 1.

GCK variants in this study. Protein and nucleotide effect are annotated according to RefSeq NM_000162. Position called with human reference genome hg19. Classification refers to the classification in ClinVar, if the variant is known, otherwise manually classified according to the ACMG Standards and Guidelines [20]. MAF is the frequency in GnomAD. MAF = Minor Allele Frequency in the Genome Aggregation Database [19], MODY = Maturity Onset Diabetes of the Young, VUS = Variant of Uncertain Significance.

Protein Effect	Nucleotide Effect	Position	Classification	MAF	Previosuly seen in MODY?
p.D4N	c.10G > A	7_44228543_C_T	VUS	0.00003	No
p.G72R	c.214G > A	7_44192019_C_T	Pathogenic	0.000004	Yes [3]
p.G72R	c.214G > C	7_44192019_C_G	Pathogenic	0	No
p.E120K	c.358G > A	7_44191875_C_T	VUS	0.000004	No
p.C220Y	c.659G > A	7_44189379_C_T	Likely Pathogenic	0	No
p.T228M	c.683C > T	7_44187429_G_A	Pathogenic	0.000004	Yes [3]
p.G246A	c.737G > C	7_44187375_C_G	VUS	0	Yes [30]
p.T342P	c.1024A > C	7_44185325_T_G	Benign	0.000008	Previously [3,27]