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: 12-64879235-T-C Allele Count: 1   Sample Count: 2292   MAF: 2.182E-4   CADD Score: 15.71

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 aTt/aCt I397T CCDS8968.1 missense; splice region benign(0.023) tolerated(0.29)
TBK1 ENST00000536906 - - - splice region - -
TBK1 ENST00000545025 - - - splice region - -