Forty-eight rare coding variants shared by affected individuals from at least two families but absent in all the unaffected ones.
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The rare variants validated by Sanger sequencing are shown in bold font. The variants excluded by Sanger sequencing or KASP genotyping are underlined. cytoBand: Chromosome Band; AA change: amino acid change; Alt: Alternative; Ref: Reference; +: alt; -: ref; 1000g 2016apr_all: 1000 Genomes Project version 2015 August data; ExAC_all: Exome Aggregation Consortium Browser v3.1; SIFT score predicts whether an amino acid substitution affects protein function; PolyPhen-2: Polymorphism Phenotyping v2, predicts possible impact of an amino acid substitution on the structure and function of a human protein; SNV: single nucleotide variants. (XLSX)
创建时间：
2020-12-23
