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This document discusses multiple genetic variants, including mutations like p.Ile70Val and p.Leu847Argfs*83, that occur in the 5' and 3' untranslated regions (UTRs) of specific genes. Additionally, it highlights various coding sequence alterations, such as p.Thr412Asnfs*2, and their potential impacts on protein function. The analysis encompasses a comprehensive review of the genetic landscape, providing insights into gene expression regulation and potential implications for genetic disorders. The variation details are explored across multiple relevant gene constructs.
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A. p.Ile70Val 5’UTR p.Leu847Argfs*83 3’UTR 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 p.Thr412Asnfs*2 5’UTR 3’UTR 1 2 3 4 5 6 7 8 9 10 11 12 13 14 S P EC1 EC2 EC3 EC4 EA TM IA ICS 5’UTR 3’UTR S P EC1 EC2 EC3 EC4 EA TM IA ICS LD RUD TD 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 B. C.