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: 12-64860723-G-A Allele Count: 1   Sample Count: 2600   MAF: 1.923E-4   CADD Score: 34.0

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 cGt/cAt R134H CCDS8968.1 missense probably_damaging(0.999) deleterious(0)
TBK1 ENST00000538890 - - - downstream - -
TBK1 ENST00000539810 - - - downstream - -
TBK1 ENST00000540417 - - - downstream - -