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MUTATIONTASTER

MutationTaster

Free web-based application to evaluate DNA variants for their disease-causing potential

MutationTaster is a free web-based application to evaluate DNA sequence variants for their disease-causing potential. The software performs a battery of

MutationTaster

CHARGE syndrome

Medical condition

listed in public databases. and predicted to be deleterious by CADD and MutationTaster. Phenotypic variability further complicates diagnosis, with no clear

CHARGE syndrome

CHARGE_syndrome

SNP annotation

(SNVs). Classical bioinformatics tools, such as SIFT, Polyphen and MutationTaster, successfully predict the functional consequence of non-synonymous substitution

SNP annotation

SNP_annotation

Single-nucleotide polymorphism

Single nucleotide in genomic DNA at which different sequence alternatives exist

those in distantly related species. SNAP2 SuSPect PolyPhen-2 PredictSNP MutationTaster: official website Variant Effect Predictor from the Ensembl project

Single-nucleotide polymorphism

Single-nucleotide_polymorphism

ANNOVAR

Bioinformatics software

1000 Genomes Project LRT ClinVar dbSNP MutationTaster CADD avSNP GERP++ DANN dbNSFP ExAC COSMIC SIFT ESP (Exome Sequencing Project) ICGC PolyPhen 2 gnomAD

ANNOVAR

Dysosteosclerosis

Medical condition

reported to be present in multiple patients and ranked disease-causing by MutationTaster. This insertion mutation is located in the loop within transmembrane

Dysosteosclerosis