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: 12-64889308-G-A Allele Count: 1   Sample Count: 2452   MAF: 2.039E-4   CADD Score: 12.35

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 Gac/Aac D523N CCDS8968.1 missense benign(0) tolerated(0.52)
TBK1 ENST00000541805 - - - noncoding exon - -
TBK1 ENST00000545392 - - - upstream - -