Homozygous 22,216 bp deletion

Reference: Mendonca, L. O. et al. Deficiency of interleukin-1 receptor Antagonist (DIRA): report of the first Indian patient and a novel deletion affecting IL1RN. Journal of Clinical Immunology 37, 445–451 (2017).

Homozygous stop variant c.62C>G

WT vs. Mutant Base-Pair Probabilities

Reference: Kuemmerle‐Deschner, J. et al. New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation. Rheumatology 59, 3259–3263 (2020).

c.396delC, stop codon c534 position

WT vs. Mutant Base-Pair Probabilities

Reference: Sözeri, B., Gerçeker-Türk, B., Yıldız-Atıkan, B., Mir, S. & Berdeli, A. A novel mutation of interleukin-1 receptor antagonist (il1rn) in a dira patient from turkey: diagnosis and treatment. The Turkish Journal of Pediatrics 60, 588–592 (2018).

c.213_227delAGATGTGGTACCCAT

WT vs. Mutant Base-Pair Probabilities

Reference: Jesus, A. A. et al. A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: Description of two unrelated cases from Brazil. Arthritis and Rheumatism 63, 4007–4017 (2011).

c.229G>T

WT vs. Mutant Base-Pair Probabilities

Reference: Aksentijevich, I. et al. An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist. New England Journal of Medicine 360, 2426–2437 (2009).

c.355C>T

WT vs. Mutant Base-Pair Probabilities

Reference: Altiok, E. et al. A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset. Clinical Immunology 145, 77–81 (2012).

c.160C>T

WT vs. Mutant Base-Pair Probabilities

Reference: Aksentijevich, I. et al. An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist. New England Journal of Medicine 360, 2426–2437 (2009).

c.156_157del

WT vs. Mutant Base-Pair Probabilities

Reference: Aksentijevich, I. et al. An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist. New England Journal of Medicine 360, 2426–2437 (2009).

c.76C>T

WT vs. Mutant Base-Pair Probabilities

Reference: Ulusoy, E. et al. Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report. Journal of Medical Case Reports 9, (2015).

c.229G>T and c.140delC

WT vs. Mutant Base-Pair Probabilities

Reference: Stenerson, M. et al. The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. Arthritis and Rheumatism 63, 4018–4022 (2011).

c.133C>T

WT vs. Mutant Base-Pair Probabilities

Reference: Mendonça, L. O. et al. A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA). Pediatric Rheumatology Online Journal 18, (2020).

c.156del

WT vs. Mutant Base-Pair Probabilities

Reference: Ziaee, V. et al. Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA). Journal of Clinical Immunology 40, 637–642 (2020).

c.364C>T

WT vs. Mutant Base-Pair Probabilities

Reference: Abdwani, R., Abdalla, E., Masilhi, B. A., Shalaby, A. & Al‐Maawali, A. Novel mutation in interleukin 1 receptor antagonist associated with chronic diarrhoea in infancy. Journal of Paediatrics and Child Health 58, 186–188 (2021).

c.318+2T>G

WT vs. Mutant Base-Pair Probabilities

Reference: Urbaneja, E. et al. Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist. Frontiers in Immunology 15, (2024).

c.116+774del2593

WT vs. Mutant Base-Pair Probabilities

Reference: Urbaneja, E. et al. Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist. Frontiers in Immunology 15, (2024).