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. 2014 Dec 2;83(23):2175–2182. doi: 10.1212/WNL.0000000000001053

Figure 1. Exome sequencing identifies mutation in CWF19L1.

Figure 1

(A) LOD scores on chromosome 10 from Merlin, using the Illumina Infinium HumanLinkage-12 Genotyping panel. (B) Flow chart variants obtained by exome sequencing data after each filtering step. (C) Sequence reads from whole-exome sequencing of one of the affected individuals indicating a homozygous C>T change. The sequence is in reverse orientation, thus there is a G>A change in a canonical splice donor site after exon 9. (D) Sanger chromatogram demonstrating mutation of the +1 site following exon 9 in affected individuals (arrowhead). Mother and father are heterozygous for the mutation (arrow). LOD = logarithm of the odds.