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: 12-64854098-A-G Allele Count: 1   Sample Count: 2606   MAF: 1.919E-4   CADD Score: 7.899

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 Att/Gtt I73V CCDS8968.1 missense benign(0.013) tolerated(1)
TBK1 ENST00000538890 Att/Gtt I73V - missense benign(0.013) tolerated(1)
TBK1 ENST00000539810 Att/Gtt I21V - missense benign(0.013) tolerated(1)
TBK1 ENST00000540417 Att/Gtt I73V - missense benign(0.013) tolerated(1)