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: 12-64889553-G-A Allele Count: 1   Sample Count: 2294   MAF: 2.18E-4   CADD Score: 28.7

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 cGt/cAt R573H CCDS8968.1 missense; splice region probably_damaging(0.917) tolerated(0.07)
TBK1 ENST00000541805 - - - noncoding exon - -
TBK1 ENST00000545392 - - - upstream - -