Skip to main content
. 2017 Mar 20;18(4):320–323. doi: 10.1111/pedi.12512

Figure 1.

Figure 1

A, An integrative genomics viewer (IGV) screenshot showing the sequencing reads (grey bars) mapping to exon 8 of the CACNA1D gene located at genomic position g.53,673,804 on chromosome 3. The reference nucleotide sequence and the amino acid translation are provided under the sequencing reads. The heterozygous substitution of a guanine (G) to an adenine (A) at nucleotide position 1208 in 8 of the 18 sequencing reads is highlighted in green. B, The Sanger sequencing trace for the variant. The top trace is the reference while the bottom is the patient's sample. The heterozygous substitution of a guanine (G) to an adenine (A) is highlighted.