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. 2022 Mar 21;31(16):2728–2737. doi: 10.1093/hmg/ddac066

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© The Author(s) 2022. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Copy number analysis profiles for the eight RCC tumours with somatic ELOC variants from the 100,000 Genomes Project using Battenberg caller (subclonal copy number caller) (56). The ELOC c.236A>G (p.Tyr79Cys) missense variant was identified in cases 1–4, cases 5–7 had a non-codon 79 missense ELOC variant [NM_005648.4:c.274G>A (p.Glu92Lys), NM_005648.4:c.311T>A (p.Leu104Gln), NM_005648.4:c.74A>T (p.Asp25Val)] and case 8 harboured anin-frame deletion [NM_005648.4:c.261_272del (p.Thr88_Pro91del)].