Appendix 4 of Tracewska, Mol Vis 2021; 27:457-465.


Appendix 4. Investigated variants identified in the cohort.

To access the data, click or select the words “Appendix 4.” ADA - a splicing prediction score derived from database of all potential human SNVs within splicing consensus regions and their functional annotations, alt - alteration, CADD - Combined Annotation Dependent Depletion, chr - chromosome, clinvar - Genomic variation as it relats to human health, DANN - deleterious annotation of genetic variants using neural networks, DM - disease-causing mutations, DFP - disease-associated polymorphism with additional supporting functional evidence, HGMD - Human Gene Mutation Database, LASSIE - Linear Allele-Specific Selection InferencE, ref - reference, 1Compound heterozygous alterations were detected in ABCA4 gene, which is most probably a chance finding due to high frequency of the variants.