Table 1

Genetic variants found in monogenic diabetes genes

Patient IDGeneTranscript IDCDS changeAA changeHom/hetAge of diagnosis (years)Family historyHbA1c % (mmol/mol)FCP (pmol/L)SNP 138maxMAFExACgnomADPathogenicity
1HNF1ANM_000545.5c.1192C>Gp.Q398EHet20NoNANA0D, D, N, D, D
2HNF1ANM_000545.5c.865delCp.P289fsHet12Yes9.1 (76)NA0.00070.00020.00006272NA, NA, NA, NA, NA
3HNF1ANM_000545.5c.686G>Ap.R229QHet16No9.8 (84)734.80D, D, D, D, D
4HNF1ANM_000545.5c.1512C>Ap.S504RHet4No12.3 (111)49.560.00010.000008134D, P, D, D, D
5HNF1ANM_000545.5c.956-1G>C.(splicing)Het12No7.4 (57)6.80NA, NA, NA, D, NA
6HNF1ANM_000545.5c. 347C>Tp.A116VHet18NoNA426.24D, D, D, D, D
7WFS1NM_006005.3c.1096_1097 insAGGACAGCAAGp.Q366fsHet9No15.6 (147)170.160NA, NA, NA, NA, NA
c.1376T>Gp.L459R0D, D, D, D, D
8WFS1NM_006005.3c.472G>Ap.E158KHet18NoNA111.70.00020.000016590.0000204T, D, D, D, D
c.985T>Ap.F329Irs1888485170.0020.00010.0002D, D, D, D, D
9WFS1NM_006005.3c.1892C>Tp.S631FHom5NoNA69.930D, P, D, D, D
10WFS1NM_006005.3c.472G>Ap.E158KHet22NoNANA0.00020.000016590.0000204T, D, D, D, D
c.985T>Ap.F329Irs1888485170.0020.00010.0002D, D, D, D, D
11ABCC8NM_000352.3c.1834G>Ap.E612KHet29YesNA170.90.000030060.000016520.000008143T, B, D, D, D
12ABCC8NM_000352.3c.1811T>Cp.L604PHet14No14.2 (132)NA0T, D, D, D, D
c.793C>Tp.R265W0D, D, N, D, D
13INSNM_000207.2c.94G>Ap.G32SHet7Yes16 (151)166.5rs803566640D, D, D, D, D
14GCKNM_000162.3c.665T>Ap.V222DHet3Yes6.1 (43)3140D, D, D, D, D
15GCKNM_000162.3c.661G>Ap.E221KHet36NoNANArs1939223170T, D, D, D, D
16NEUROD1NM_002500.4c.316G>Ap.A106THet13YesNA399.60D, D, D, D, D
17HNF1BNM_000458.2WGDWGDHet25Yes8.4 (68)NANA, NA, NA, NA, NA
18HNF1BNM_000458.2WGDWGDHet14No13.7 (126)480NA, NA, NA, NA, NA
  • Fasting C-peptide (FCP), pmol/L. In the pathogenicity column, the results of evaluation algorithms are indicated in single-letter codes in this order: For SIFT (scale-invariant feature transform), D, deleterious; T, tolerated. For Polyphen-2, D, probably damaging; P, possibly damaging; B, benign. For LRT (likelihood ratio test), D, deleterious; N, neutral. For MutationTaster, D, disease causing; N, polymorphism. For LR, D, deleterious; T, tolerated. Reference list for previous reports of some mutations is provided in Supplementary Table 4. CDS, coding DNA sequence; gnomAD, Genome Aggregation Database; hom, homozygous; het, heterozygous, ID, identification number; maxMAF, maximum MAF; NA, not available; SNP, single nucleotide polymorphism; WGD, whole gene deletion.