Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A


Note This screen lists all Ensembl-based annotations for the selected variant. This includes annotations with overlapping genes.

Variant: 12-64882311-CAG-C Allele Count: 1   Sample Count: 2599   MAF: 1.924E-4   CADD Score: 35.0

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 - 462-463 CCDS8968.1 frameshift - -
TBK1 ENST00000536906 - - - noncoding exon - -
TBK1 ENST00000545025 - - - downstream - -