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Combined sequence and CNV analysis (e.g. DECIPHER patient 273915). (A) Both CNV and sequence variants are shown in tabular form. The sequence variant summary information includes calculated consequences and transcript-based HGVS nomenclature. (B) Data from Ensembl VEP for all possible transcripts at given genomic position, with predicted consequences using SIFT (21) and PolyPhen (22). Transcript chosen by the depositor is shown in bold.
