Appendix 4 of
Li, Mol Vis 2021; 27:309-322. Appendix 4 of
Li, Mol Vis 2021; 27:309-322.
Appendix 4. The distribution and allele frequency of missense variants from our cohort and HGMD.
To access the data, click or select the words “Appendix 4.” (A) Missense variants with MAF <0.01 identified in the gnomAD database. (B) Missense variants within the connexin domain and predicted as damaging ones through at least four in-silico tools from the gnomAD database (above), HGMD and our cohort (below). (C) Missense variants within the connexin domain. (D) Missense variants predicted as damaging ones through at least four in-silico tools. (E) Missense variants from inhouse data and HGMD related (above) and irrelevant (below) to the ocular signs.