Table 1.

List of protein truncating variants identified in monogenic diabetes genes in which heterozygous protein truncating variants are known to be pathogenic for diabetes. None of the variants were present in the ExAC database

			Counts
Gene	DNA change	AA change	Cases	Early onset	Controls	dbSNP 144	ACMG classa
GCK	c.871A > T	p.K291*	1	1	0	rs193922335	5
GCK	c.1340_1368del	p.R447fs	1	1	0	─	4
GCK	c.863 + 1G > T	p.?	1	0	0	─	4
HNF1A	c.994delG	p.E332fs	1	1	0	─	4
HNF1A	c.955 + 1G > T	p.?	1	1	0	─	4
HNF1A	c.1730_1733dupACCT	p.Q579fs	1	0	0	─	4
HNF1B	c.1005dupC	p.H336fs	1	1	0	─	4
PPARG	c.465delC	p.H155fs	1	0	0	─	4

Reference sequences: GCK, NM_000162; HNF1A, NM_000545; HNF1B, NM_000458; PPARG, NM_005037

^aACMG classification: 5 = pathogenic, 4 = likely pathogenic, and 3 = uncertain significance

AA amino acid, ACMG American College of Medical Genetics, dbSNP Single Nucleotide Polymorphism Database