Supplementary Figure 1: Identification of a partial deletion of MMP21 in family 2 by WGS. | Nature Genetics

Supplementary Figure 1: Identification of a partial deletion of MMP21 in family 2 by WGS.

From: MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Supplementary Figure 1

IGV screenshot of WGS reads aligned to the MMP21 locus on chromosome 10 in individuals F2-II:4 (proband), F2-II:3 (affected brother), F2-I:2 (unaffected mother) and F2-I:1 (unaffected father). Red stretched paired reads flank the deleted region chr10:127,460,915–127,466,819 in individuals F2-II:4, F2-II:3 and F2-I:2. The position of a frameshift mutation (c.365delT, p.Met122Serfs*55) is boxed in F2-II:4, F2-II:3 and F2-I:1 in exon 2 of MMP21. Genome coordinates are GRCh37/hg19.

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