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: 12-64875801-C-T Allele Count: 1   Sample Count: 2393   MAF: 2.089E-4   CADD Score: 23.6

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 aCt/aTt T331I CCDS8968.1 missense; splice region probably_damaging(0.939) deleterious(0)
TBK1 ENST00000536906 - - - upstream - -
TBK1 ENST00000545025 - - - upstream - -