USH2A and congenital heart disease: These mutations are located in exonic regions and belong to non-synonymous SNVs, including rs201584759 in GABRP, rs200602523 in GJB4, rs199568901 in RTTN, and rs144768593 in USH2A. Additionally, functional annotation analysis indicated that GABRP was significantly associated with congenital heart disease and developmental disorder, while GJB4 was involved in cardiomyopathy.