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2.1. Variant and Transcript Annotations

EB Elena Bueno-Martínez
LS Lara Sanoguera-Miralles
AV Alberto Valenzuela-Palomo
VL Víctor Lorca
AG Alicia Gómez-Sanz
SC Sara Carvalho
JA Jamie Allen
MI Mar Infante
PP Pedro Pérez-Segura
CL Conxi Lázaro
DE Douglas F. Easton
PD Peter Devilee
MV Maaike P. G. Vreeswijk
MH Miguel de la Hoya
EV Eladio A. Velasco
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Forty-seven variants from the intron–exon boundaries (3′ splice-site: intron/exon [IVS-10_IVS-1/2nt]; 5′ splice-site: exon/intron [2nt/IVS+1_IVS+10]) [16] and 34 from RAD51D exon 3 were collected from the BRIDGES sequencing data [5]. RNA outcomes and predicted protein products were described according to the Human Genome Variation Society guidelines (http://varnomen.hgvs.org/, accessed on 1 April 2021) using Ensembl reference transcript ID ENST00000345365.10 (GenBank NM_002878.3). To simplify, we also annotated splicing events, as previously described [17].

Copyright and License information:  ©2021 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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