Table 2

List of identified rare non-silent genetic variants of monogenic diabetes

IDChrGene namePositioncDNA changeAmino acid changedbSNP IDASN AF (1000 genomes)East Asian AF (gnomAD)EffectPathogenicity
P0711ABCC817 452 377c.1801G>Ap.Val601IleMissenseUncertain significance
P1011ABCC817 491 753c.307C>Tp.His103Tyrrs7512097340.0004MissenseUncertain significance
P1013PDX128 494 372c.97C>Gp.Pro33Ala0.003MissenseUncertain significance
P1411INS-IGF22 182 149c.53G>Ap.Gly18GluMissenseUncertain significance
P177PAX4127 253 857c.491G>Ap.Arg164Gln0.000MissenseUncertain significance
P2812HNF1A121 437 271c.1630G>Ap.Ala544Thrrs1939225850.0010.0009MissenseUncertain significance
P35MMT-TL13243m.3243A>Grs199474657tRNA variantPathogenic
  • ASN AF, alternative allele frequency in Asian subjects; Chr, chromosome; dbSNP ID, NCBI Short Genetic Variations database ID.