Figure 3

Nine samples were identified to have a likely causal tri-allelic genotype for albinism within TYR. For 55 patients which did not have likely causal genotypes with assumed pathogenic or assumed likely pathogenic variants, nine were identified to have tri-allelic causal genotypes in TYR. All TYR variants identified as assumed pathogenic or assumed likely pathogenic with the addition of S192Y and R402Q are listed. Position, location of 5′ base of variant in hg38; Alt, alternative allele; Variant type, consequence of the variant (s = synonymous, ns = nonsynonymous, sp = splicing, sg = stopgain); AAchange; avsnp144, dbSNP144 rsID; ExAC ALL, Alternate allele frequency from ExAC database (all populations); CADD Phred, Combined Annotation Dependent Depletion score (Phred scale); MaxEntScan diff, the difference in score between MaxEntScan reference allele and alternative allele; ClinSig, clinical significance (clinvar); InterVar, pathogenicity category according to InterVar interpretation; HGMD 2016 class, HGMD annotation for pathogenicity; Samples, orange indicates heterozygous variants, red indicates homozygous variants. Samples are ordered by phenotypic group, ‘c’ was used to indicate a likely causal variant, and grey highlights the common variants involved in the tri-allelic genotype outlined by Norman et al. (S192Y and R402Q).