Fig. 2

Protein changing variants seen per kilobase sequenced for diagnostic genes. A lower number of variants per kilobase sequenced suggests a higher intolerance to protein altering mutations for the gene, but may also be affected by lower ascertainment in regions that are difficult to sequence. Diagnostic DSD genes are graphed alphabetically; differing colors are used only for clarity. A small number of genes are excluded because they experienced artificially low variant counts due to technical reasons, including poor sequencing performance (CYP21A2, CDKN1C, LHX3), omission from sequencing in some samples (CYB5A), or difficulties in annotating variants accurately (SRD5A2)