Exome sequencing. (A-B) Sequence tags. (A) New York HX patient II-10 (exon 46). Eight of 19 full-length reads have a C instead of an A (G replacing T on opposite strand), leading to a missense mutation, Met to Arg at amino acid 2225. (B) Canadian HX patient IV-4 (exon 51). Ten of 20 full-length reads have a T instead of a C (A replacing G on opposite strand), leading to a missense mutation, Arg to His at amino acid 2456. (C-D) Sanger sequencing confirmation of FAM38A gene mutations. (C) New York kindred. Top: Partial exon 46 wild-type sequence. Middle: corresponding sequence from a New York family HX heterozygote. Bottom: corresponding from a New York family HX homozygote. (D) Canadian kindred. Top: partial exon 51 wild-type sequence. Bottom: corresponding sequence from a Canadian HX heterozygote. The .bam file yielding the sequence traces from exome sequencing in panels A and B places the FAM38A gene in reverse complement orientation. The letters K and R are designations in the IUPAC code where K represents the nucleotides G or T and R represents the nucleotides A or G.