Details of the three gene variants, KIF7 rs138354681, GJA1 rs778110855, and PDE1C PP785745, respective amino acid changes, and their genotype distribution in the T21, T21 + CHD, T21 + VSD, T21 + AVSD, T21-CHD and D21 groups. Here, GJA1 is linked to familial atrioventricular septal defect.