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: 12-64868152-G-A Allele Count: 2   Sample Count: 2572   MAF: 3.888E-4   CADD Score: 34.0

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 cGt/cAt R228H CCDS8968.1 missense probably_damaging(1) deleterious(0)