Hello,
I have found a variant, which is shown in Varsome as “Equivalent deletions”.
For example:
If I put query in Varsome —> PRSS56:c.1066del , it will show chromosome position “chr2-232523818-C-”.
Then I click to see frequencies in exome and link to gnomAD browser, it show : Deletion (1 base) :2-232523817-AC-A(GRCh38) .
I would like to know that “Allele Frequency” as it show in gnomAD, this frequency is include the count for all the position in the Equivalent deletions range or not.
Thank you.