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: 12-64878118-C-G Allele Count: 1   Sample Count: 2559   MAF: 1.954E-4   CADD Score: 28.0

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 aCc/aGc T343S CCDS8968.1 missense probably_damaging(0.999) deleterious(0.01)
TBK1 ENST00000545025 - - - noncoding exon - -
TBK1 ENST00000536906 - - - upstream - -