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Hello, I'm trying to understand the output I got for a site with multiple alleles (REF: ACCG ALT: GCCA,GCCG)
It was classified as a frameshift variant despite the variants having the same number of nucleotides as the reference. Here is an excerpt of the INFO column for this variant:
Hello, I'm trying to understand the output I got for a site with multiple alleles (REF: ACCG ALT: GCCA,GCCG)
It was classified as a frameshift variant despite the variants having the same number of nucleotides as the reference. Here is an excerpt of the INFO column for this variant:
frameshift_variant&missense_variant | HIGH | MITF | MITF | transcript | XM_034440584.1 |protein_coding | 11/11 |c.1518_1521delCGGTinsTGGC"
Is this a misclassification/bug ?
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