Table 2 Information of MODY variants in the Tehran Cardiometabolic Genetic Study (TCGS) cohort.

MODY Subtype	chr:position:ref:alt	HGVS nomenclature	rs	Protein change	MAF-TCGS	Allele frequency-GnomAD	Impute info	Penetrance (%)	Diagnosis (n)	CADD phred	Consequence	ClinVar-clinical significance	REVEL	Alpha missense
HNF4A-MODY	chr20:44,413,696:G:A	NM_175914.5(HNF4A):c.322G > A	rs377476335	p.Val108Ile	0.000328	0.000009932	0.853567	100	DM	22.2	Missense	P	0.804	P
GCK-MODY	chr7:44,149,764:G:C	NM_000162.5(GCK):c.675C > G	rs772754004	p.Ile225Met	0.000711	6.196e-7	0.879049	61.5	DM (3) Pre DM (5) N.D (4) N.A (1)	6.324	Missense	P	0.805	P
HNF1A-MODY	chr12:120,994,313::C	NM_000545.8(HNF1A):c.863_864insC	rs766191969	p.Pro289fs	0.000355	0.00009529	0.992043	100	DM	–	Frameshift	P	–	–
HNF1B-MODY	chr17:37,739,468:G:A	NM_000458.4(HNF1B):c.516C > T	rs764561297	p.Tyr172 =	0.001422	0.00001487	0.954562	12.5	DM (1) Pre DM (5) N.D (2)	9.416	Synonymous	P	–	–
HNF1B-MODY	chr17:37,731,615:G:A †	NM_000458.4(HNF1B):c.1025C > T	rs780035561	p.Ser342Phe	0.000355	0.00004091	0.851708	100	DM	20.7	Missense	URA	–	B
CEL-MODY	chr9:133,071,270:C:CC	NM_001807.6(CEL):c.1776dup	rs193922638	p.Val593fs	0.000423	0.000004028	0.981079	0	Pre DM	17.15	Frameshift	LP	–	–
INS-MODY	chr11:2,160,956:G:A	NM_000207.3(INS):c.16C > T	rs121908278	p.Arg6Cys	0.001422	0.00001365	0.869638	38	DM (8) Pre DM (8) N.D (3) N.A (2)	21.2	Missense	P	0.458	B

^†Demonstrates the potentially causal MODY variant which showed complete disease penetrance (100%) and all the variant carriers were classified as diabetics based on phenotype data. Chr:Pos, Chromosome:Position of identified variant based on genome build GRCh38. Ref, reference allele. Alt, Alternative allele. MAF, Minor Allele Frequency. Penetrance is shown as the percentage of variant carriers with diabetes. Diagnosis is based on phenotype data. N, Number of subjects. DM, Diabetes Mellitus. Pre DM, Pre-diabetes. N.D, Non-Diabetics. N.A, Not Available glycemic data. CADD, Combined Annotation-Dependent Depletion Phred score. URA, Uncertain risk allele. P, Pathogenic. LP, Likely Pathogenic. B, Benign.

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