Appendix 1 of Jinda, Mol Vis 2016; 22:342-351.
This IGV snapshot shows the position of the homozygous G to A transition at nucleotide 3 (c.3G>A) in exon 1, which corresponds to genomic position 112,656,315 at chromosome 2. Vertical bars indicate read coverage. Horizontal bars represent 100 bp paired-end reads that mapped onto the human reference genome (hg19 build GRCh37). To access the data, click or select the words “Appendix 1.”