Research Article
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
Table 2
Variants identified by WES in combination with skeletal dysplasia-related gene-filtering in the proband.
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Italicized words: mutations identified in this study; D: disease causing; B: benign; T: tolerated; P: polymorphism; AR: autosomal recessive; AD: autosomal dominant. Pathogenic: PVS1> PS1>…> PS4> PM1-6> PP1-5; benign: BA1> BS1-4> BP1-7. PVS: pathogenic very strong; PS: pathogenic strong; PM: pathogenic moderate; PP: pathogenic supporting; BA: benign stand-alone; BS, benign strong; BP, benign supporting. |