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: 12-64891810-T-A Allele Count: 1   Sample Count: 2594   MAF: 1.928E-4   CADD Score: 32.0

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 aTt/aAt I710N CCDS8968.1 missense possibly_damaging(0.818) deleterious(0)
TBK1 ENST00000541805 - - - downstream - -
TBK1 ENST00000545392 - - - downstream - -