Data Browser v1

Examples - Gene: DNM1, Region: 15:26792932-26818879, Variant: 9-140043500-G-A


Note This screen lists all Ensembl-based annotations for the selected variant. This includes annotations with overlapping genes.

Variant: 9-130982295-G-C Allele Count: 1   Sample Count: 335   MAF: 0.0015   CADD Score: 19.61

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
DNM1 ENST00000372923 aaG/aaC K206N CCDS6895.1 missense probably_damaging(0.999) deleterious(0)
DNM1 ENST00000341179 aaG/aaC K206N CCDS43882.1 missense probably_damaging(0.998) deleterious(0)
DNM1 ENST00000393594 aaG/aaC K206N - missense probably_damaging(0.999) deleterious(0)
DNM1 ENST00000475805 aaG/aaC K206N - missense probably_damaging(0.999) deleterious(0)
DNM1 ENST00000486160 aaG/aaC K206N - missense probably_damaging(0.999) deleterious(0)
DNM1 ENST00000441149 - - - noncoding exon - -
DNM1 ENST00000482638 - - - upstream - -