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. 2023 May 26;10:323. doi: 10.1038/s41597-023-02244-6

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 8 — Variants in genes associated with monogenic diabetes observed in nPOD donors with T1D. Variants in genes associated with autoimmune diabetes (orange: AIRE, FOXP3, IL2RA, ITCH, LRBA, SKAP2, STAT1, and STAT3), or MODY and neonatal diabetes (blue: GCK, HNF1A, HNF4A, HNF1B, ABCC8, KCNJ11, and INS)^39,64–66 were observed from WES data of 141 nPOD cases with T1D. (a) Distribution of variant types. (b) Frequency of variants in the Genome Aggregation Database (gnomAD)⁴⁷. (c) Variants with a Combined Annotation Dependent Depletion (CADD) score > 20⁴⁶, predicting the variant is deleterious to protein function. (d) Combining these tools can help identify variants that are predicted to be both rare (<0.01%) and deleterious. Total number of variants shown above bars.