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: 12-64889303-A-G Allele Count: 1   Sample Count: 2439   MAF: 2.05E-4   CADD Score: 19.65

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 gAt/gGt D521G CCDS8968.1 missense benign(0.375) tolerated(0.1)
TBK1 ENST00000541805 - - - noncoding exon - -
TBK1 ENST00000545392 - - - upstream - -