Mutation information
Coding de novo mutations (DNMs)
Impact details in
mRNA and protein level
Chr Position Variant Exonic func Case or control Primary phenotype Potential severity level View in
UCSC Genome Browser
LoF SIFT Polyphen2 GERP++ CADD ClinVar Mutation site in
protein structure
Sample ID Study Validation 1000G_ALL ExAC_Freq gnomAD_exome_ALL gnomAD_genome_ALL DeepSea_Score
* Red font means the presented values are counted towords severity level assessment. "." in the cell means "N/A" for values. For more details on annotation category, see document.
Non-coding de novo mutations (DNMs)
Chr Position Variant Func.refGene View in
UCSC Genome Browser
Case or control Primary Phenotype Sample ID Study Validation 1000G_ALL CADD_phred GnomAD_genome_ALL Enhancer_ID Enhancer_chr Enhancer_start Enhancer_end Enhancer_target_geneID Promoter_ID Promoter_chr Promoter_start Promoter_end Promoter_target_geneid Promoter_gene_symbol DeepSea_Score
More details on annotation category, see document.
De novo copy number variations (CNVs)
Chr CNV_ID Band Mutation type Start End Disorder Patient ID Study Of probands Of controls Gene symbols