Additional file 1 of A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

Additional file 1. Rare protein-changing genetic variants identified in the proband by whole exome sequencing. The table provides information on missense, nonsense, frameshift and splicing genetic variants with gnomAD exome allele frequency < 0.001. The data on the rare variants include genomic coordinates, “rs” ID, homo-/heterozygosity state, allele frequencies based on gnomAD and Kaviar, gene description and tissue specificity including cardiac and muscle specific expression (GTEx), associated clinical conditions, CADD and other predictors of variant functional effect.