Fig. 2
From: Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
The variants in STAG1 and STAG2. a Single-nucleotide variants (SNVs)/indels in STAG1. b SNVs/indels and one copy-number variant (CNV) deletion in STAG2. For panels a and b, the white segment represents the full-length protein, and the black segments represent protein domains; the missense variants are annotated above the segment, while the putative loss-of-function (LoF) variants (including the CNVs deletion in STAG2) are underneath; the variants colored in red are reported in the current study. The boxed variant (p.A638Vfs*10) in panel b is reported as a research variant. c Diagram showing the CNV deletions overlapping STAG1 reported in DECIPHER and the current study. The red segments represent the deletions, which are divided in two groups: DECIPHER and Current Study. The bottom panel shows genes in the region. STAG1 is highlighted in red. d Photographs showing the front and side facial profiles of patients 8 and 9 with de novo variants in STAG2. The patient numbers and variants are listed under the photograph
