Summary of exome sequencing results from ANCL.

Chr: chromosome; Position (bp) is according to Human Genome build 37 (hg37); Reference base: reference allele according to hg37; Variant: nucleotide found by exome sequencing; Gene: official Symbol provide by HGNC; AA Substitution: amino acid change resulting from the observed variant; Type of change: predicted change in the gene sequence; Protein prediction: based on Polyphen analyses of the predicted effect of the substitution on protein function; Segregation pattern: present in all affected tested.