Fig. 4
From: Graft versus host disease and microchimerism in a JAK3 deficient patient
Correlating Combined Annotation Dependent Depletion (CADD) scores with minor allele frequencies (MAF) for pathogenic JAK3 mutations in the proband and other variants (missense mutations, splice acceptor mutations, splice donor mutations, start losses and frameshift mutations) reported in the population databases (ExAC: http://exac.broadinstitute.org, n = 60,706 exomes and gnomAD: http://gnomad.broadinstitute.org, n = 123,136 exomes and 15,496 genomes). MSC mutation significance cutoff