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Table 2 Results of bioinformatics analyses of the novel mutation in this study

From: A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report

Chr Start Ref Alt Function Gene BayanGene avsnp147 Frequency
1 25,812,784 C T exonic SELENON 1 rs767530943 0.000018
SIFT Polyphen2 LRT Mutation Taster Mutation Assessor FATHMM REVEL MCAP CADD _phred
D D N D M D 0.73 . 18.91