Fig. 3

Genotype and conservation of proband’s mutations in NUP93: a. Table with Hg19 position, c, change; ExAC, Exome Aggregation Consortium; gnomAD, Genome Aggregation Database; p. change, exon number, mean allele frequency, pathogenicity prediction scores, and segregation for the two mutant alleles in our proband. b. Sanger tracing for proband, mother and father for each allele. c. Conservation through phylogeny for the two mutated alleles of NUP93