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. 2022 Mar 9;12(3):423. doi: 10.3390/jpm12030423

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© 2022 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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Characterization of high confidence knockouts (KOs) in the MEV database. (a) Distribution of unique (present in MEV database only) and reported (present in both MEV database and gnomAD) knockouts. (b) Effects of unique KOs variants. Number of variants = Number of stops gained, frameshift, splice acceptor, stop lost, and splice donor variants. (c) Distribution of unique KOs genes in different disease databases (ClinVar, HGMD, and OMIM). Number of variants = Number of variants in OMIM, CLinVar, and HGMD. Number of genes = Number of genes in Unique KOs.