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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Fig. 3

Overview of known and novel variants in COL9A3 at the cDNA and protein levels. All variants have been reported by HGMD Professional 2020.1.and classified as pathogenic in ClinVar or are reported but have not yet been classified in ClinVar. The black words indicate heterozygous variants, the blue words show homozygous variants and the green words show the heterozygous compound variants. A Variants on cDNA level; B variants on protein level

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172