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. 2018 Sep 20;89(5):621–627. doi: 10.1111/cen.13841

Figure 1.

Figure 1

KMT2D variant hg19/GRCh37:g.49420017_49420018del/NM_003482:c.15731_15732del/p.Lys5244Serfs*13. Visualized in integrative genomics viewer (IGV). It shows the sequencing reads. (horizontal grey bars) mapping to exon 48 of the KMT2D gene located at genomic position 49,420,017 on chromosome 12. The reference nucleotide sequence and the amino acid translation are provided under the sequencing reads. The heterozygous deletion of TT is illustrated by ‐2‐ and is present in 15 of the 25 sequencing reads present at this position. The deletion causes a frameshift.