Open rileyhgrant opened 9 months ago
From browser meeting, MS: on region page you can see it, it's a splice donor so its right on the exon boundary, and it being such a long deletion may take it outside of the region of exons in the gene
There's a whole region not on the gene page (...74, ...72). To troubleshoot more.
Katie brought to our attention that in EFL1:
This long deletion variant exists in genomes only, and can be found by searching for it: https://gnomad.broadinstitute.org/variant/15-82225077-TCCGTGCCCCCCCTACCCACAGCCCAACTGCATCCCACCAAACATACACCATATTCCTAGCCCAGCCCAACTTTCCCCTTTCCCTTA-T?dataset=gnomad_r4
However, it does not show up in the Gene page variant table https://gnomad.broadinstitute.org/gene/ENSG00000140598?dataset=gnomad_r4