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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No matching records found | |||||||||||||||||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||||||||||||||||||
Chr | CNV_ID | Band | Mutation type | Start | End | Disorder | Patient ID | Study | Of probands | Of controls | Gene symbols |
|---|---|---|---|---|---|---|---|---|---|---|---|
| No matching records found | |||||||||||