Fig. 1From: Predicting the combined effect of multiple genetic variantsAn example of variant classification in terms of genotypes. The colored sticks on the gene represent variants at different locations. Colors represent different classes of variants. The format v1:T;A|A means variant v1’s ancestral allele is T and the genotype is A|A, the same as other variants. The boxes on the transcripts represent exon regions. The gene and the transcripts share the same coordinate systemBack to article page