1)PolyPhen2 scores close to 1 are likely to be pathogenic (highlighted in bold). HumDiv-trained Polyphen-2 assumes even mildly deleterious alleles as damaging to evaluate rare alleles potentially invo
Blood DNA from up to 136 ARID patients were enriched in the targeted exons and deep sequenced. The aim is to unravel the variants in the specific linkage intervals and identify the causal mutations.
Additional file 1: Supplementary Table S1. Table S1: Details of clinical and molecular findings of the study cases. No OMIM phenotype*: Phenotype is not listed in OMIM. Likely pathogenic*: Upgraded to
Classifications for multifactorial likelihood as described in Plon et al. (3) and splicing as described in Spurdle et al. (32). Frequency data from 1000 Genomes and EVS datasets is available for a sub
