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Why is the result of the autopvs1. py annotation mutation different from that of the query on the website

Open Sh1von opened this issue 2 years ago • 0 comments

demo = AutoPVS1('13-113149093-G-A', 'GRCh38') print(demo.hgvs_c, demo.hgvs_p, demo.consequence, demo.pvs1.criterion, demo.pvs1.strength_raw, demo.pvs1.strength) NM_000504.4:c.1043G>A NP_000495.1:p.Trp348Ter nonsense NF5 Strength.Strong Strength.Moderate http://autopvs1.genetics.bgi.com/variant/hg38/13-31247103-C-T

My version of VEP is 108.2. Do I have to change to 104?

Sh1von avatar Feb 23 '23 07:02 Sh1von