Hi, After WES, I got medical report with this mutation (see below). I am trying to find it on UCSC Genome Browser on Human Feb. 2009 (GRCh37/hg19) Assembly, but I get CTC (Leu) in position chr17:10,428,335-10,428,337, no Glu or Val. Can somebody please point me what am I doing wrong?
MYH2 17:10428336 - AD missense_variant NM_017534.5 c.4709A>T p.(Glu1570Val)
Mutation nomenclature is based on GenBank accession NM_017534.5 (MYH2) with nucleotide one being the first nucleotide of the translation initiation codon ATG. Clean sequence reads of each sample was mapped to the human reference genome (GRCh37/hg19). Burrows-Wheeler Aligner (BWA) software was used to do the alignment. Local realignment around indels and base quality score recalibration were performed using GATK, with duplicate reads removed by Picard tools. The sequencing depth and coverage for each individual were calculated based on the alignments.
