Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A


Gene: DAO Variant Count: 20   RVIS Percentile: 17.1621%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
12-109278847-G-A DAO ENST00000228476 R22H missense 1 2637 1.896E-4 14.5
12-109278895-G-A DAO ENST00000228476 R38H missense 1 2629 1.902E-4 20.8
12-109278977-G-A DAO ENST00000228476 - splice donor 1 2557 1.955E-4 23.8
12-109281234-G-A DAO ENST00000228476 S68N missense 1 2615 1.912E-4 0.274
12-109281299-T-G DAO ENST00000228476 F90V missense 1 2629 1.902E-4 18.78
12-109281310-G-A DAO ENST00000228476 93S synonymous 352 2609 0.0675 8.622
12-109281331-A-G DAO ENST00000228476 100E synonymous 4 2625 7.619E-4 0.103
12-109281340-G-A DAO ENST00000228476 103P synonymous; splice region 1 2625 1.905E-4 7.432
12-109283278-C-T DAO ENST00000228476 R115W missense 1 2634 1.898E-4 31.0
12-109286788-G-A DAO ENST00000228476 161Q synonymous 1 2631 1.9E-4 4.74
12-109286807-G-A DAO ENST00000228476 E168K missense 1 2625 1.905E-4 23.2
12-109288070-A-G DAO ENST00000228476 N180S missense 1 2435 2.053E-4 23.6
12-109288126-C-T DAO ENST00000228476 R199W missense 3 2328 6.443E-4 35.0
12-109288127-G-A DAO ENST00000228476 R199Q missense 1 2314 2.161E-4 32.0
12-109292469-C-T DAO ENST00000228476 T237I missense 1 2638 1.895E-4 25.2
12-109292482-C-T DAO ENST00000228476 241I synonymous 7 2637 0.0013 9.087
12-109293229-G-A DAO ENST00000228476 R297H missense 1 2602 1.922E-4 5.639
12-109294206-C-A DAO ENST00000228476 313G synonymous 1 2597 1.925E-4 1.903
12-109294259-G-A DAO ENST00000228476 G331E missense 1 2588 1.932E-4 23.9
12-109294301-C-T DAO ENST00000228476 S345F missense 2 2582 3.873E-4 25.4