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Variant inclusion list

Variants that are in the curated list of variants below will be prioritised if they are present, providing they pass at least the variant filter status filter (Criterion 1) and segregate with the disease (Criterion 4):

Variant Gene
chr1:94010911:T:A ABCA4
chr9:34649445:A:G GALT
chr9:34646575:CCAGT:C GALT
chr11:89284793:G:A TYR