Forty-eight rare coding variants shared by affected individuals from at least two families but absent in all the unaffected ones.

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.
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